### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NSD1) # 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}}" "NSD1" "nuclear receptor binding SET domain protein 1" "5" "q35" "unknown" "NG_009821.1" "UD_132085345883" "" "http://www.LOVD.nl/NSD1" "" "1" "14234" "64324" "606681" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/NSD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2008-01-01 00:00:00" "00006" "2016-10-25 09:13:04" "03840" "2021-10-29 23:15:34" ## 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}}" "00000150" "NSD1" "nuclear receptor binding SET domain protein 1, transcript variant 2" "002" "NM_022455.4" "" "NP_071900.2" "" "" "" "-138" "12845" "8091" "176560833" "176727214" "00002" "2012-05-11 13:12:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{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" "" "" "00133" "WVS" "Weaver syndrome (WVS)" "" "277590" "" "" "" "00006" "2013-05-17 15:33:21" "00006" "2015-12-08 23:54:35" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00231" "BWS" "Beckwith-Wiedemann syndrome (BWS)" "" "130650" "" "" "" "00006" "2013-10-09 19:27:53" "00006" "2015-02-20 12:56:57" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "04599" "SOTOS-1" "Sotos syndrome, type 1 (SOTOS-1)" "AD" "117550" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2019-12-04 11:17:51" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05245" "SOTOS" "Sotos syndrome (SOTOS)" "" "" "" "neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation" "" "00006" "2017-03-24 10:45:23" "00006" "2017-03-24 12:27:24" "05330" "TSC" "tuberous sclerosis (TSC)" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "NSD1" "00139" "NSD1" "00231" "NSD1" "00908" "NSD1" "04599" "NSD1" "05245" ## Individuals ## Do not remove or alter this header ## ## Count = 321 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000102" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "" "" "" "" "" "00024241" "" "" "" "1" "" "00006" "{PMID:Gilissen 2014:24896178}" "" "" "" "" "" "0" "" "" "" "" "00036397" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036398" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036399" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036400" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036401" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036402" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050392" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050396" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050475" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080945" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00081055" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00081819" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101249" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101250" "" "" "" "1" "" "00006" 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"" "M" "" "" "" "0" "" "" "" "" "00101268" "" "" "" "1" "" "00485" "in dbSNP" "" "" "" "Germany" "" "0" "" "" "" "" "00101269" "" "" "" "1" "" "00485" "" "brother, who stutters since 2y and suffers from allergic asthma; cousin mothers line amily suffers from epilepsy" "" "" "Germany" "" "0" "" "" "" "" "00101270" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101271" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101272" "" "" "" "1" "" "01353" "" "" "M" "" "" "" "0" "" "" "" "" "00101273" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101274" "" "" "" "1" "" "01353" "" "" "F" "" "Denmark" "" "0" "" "" "" "" "00101275" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101276" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101277" "" "" "" "1" "" "00006" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00101278" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101279" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101280" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101281" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101282" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101283" "" "" "" "1" "" "01353" "" "" "M" "" "" "" "0" "" "" "" "" "00101284" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101285" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101286" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101287" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101288" "" "" "" "1" "" "00006" "" "" "M" "" "Denmark" "" "0" "" "" "" "" "00101289" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101290" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101291" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101292" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101293" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101294" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101295" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101296" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101297" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101298" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101299" "" "" "" "1" "" "00006" "" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00101300" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101301" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101302" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101303" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101304" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101305" "" "" "" "1" "" "01353" "" "" "F" "" "Netherlands" "" "0" "" "" "Netherlands" "" "00101306" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101307" "" "" "" "1" "" "01353" "" "" "M" "" "Canada" "" "0" "" "" "" "" "00101308" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101309" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101310" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101311" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101312" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101313" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101314" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101315" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101316" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101317" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101318" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101319" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101320" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101321" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101322" "" "" "" "1" "" "00006" "{PMID:Kurotaki 2002:11896389}, {PMID:Nagai 2003:12676901}, {OMIM606681:0002}" "" "" "" "Japan" "" "0" "" "" "" "" "00101323" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101324" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101325" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101326" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101327" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101328" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101329" "" "" "" "1" "" "00006" "{PMID:Kurotaki 2002:11896389}, {PMID:Nagai 2003:12676901}, {OMIM606681:0003}" "" "" "" "Japan" "" "0" "" "" "" "" "00101330" "" "" "" "1" "" "00485" "" "" "" "" "Germany" "" "0" "" "" "" "" "00101331" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101332" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101333" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101334" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101335" "" "" "" "1" "" 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2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101353" "" "" "" "1" "" "00006" "{PMID:Kurotaki 2002:11896389}, {PMID:Nagai 2003:12676901}" "" "" "" "Japan" "" "0" "" "" "" "11896389-Pat" "00101354" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101355" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101356" "" "" "" "1" "" "00006" "{PMID:Kurotaki 2002:11896389}" "" "" "" "Japan" "" "0" "" "" "" "11896389-Pat" "00101357" "" "" "" "19" "" "00006" "{PMID:Kurotaki 2002:11896389}" "" "" "" "Japan" "" "0" "" "" "" "" "00101358" "" "" "" "1" "" "00006" "{PMID:Kurotaki 2002:11896389}" "" "" "" "Japan" "" "0" "" "" "" "" "00101359" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00101360" "" "" "" "1" "" "01945" "" "" "F" "no" "Germany" "" "0" "" "" "" "" "00101361" "" "" "" "1" "" "01945" "" "" "M" "no" "Germany" "" "0" "" "" "German" "" "00101362" "" "" "" "1" "" "01353" "" "" "F" "" "" "" "0" "" "" "" "" "00101363" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00101364" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00101365" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00101366" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101367" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101368" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101369" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101370" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101371" "" "" "" "1" "" "00006" "{PMID:Douglas 2003:12464997}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00147126" "" "" "" "1" "" "02357" "{PMID:Han 2018:30631761}" "" "" "" "Korea" "" "0" "" "" "" "30631761-Pat69_S7" "00154967" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00269348" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00269369" "" "" "" "1" "" "01401" "" "" "M" "?" "Italy" "" "0" "" "" "Caucasian" "" "00269370" "" "" "" "1" "" "01401" "" "" "M" "?" "Italy" "" "0" "" "" "Caucasian" "" "00269594" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00269595" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00269598" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00276093" "" "" "" "1" "" "01401" "" "" "F" "yes" "Italy" "" "0" "" "" "Caucasian" "" "00276096" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00276100" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00276108" "" "" "" "1" "" "01401" "" "" "" "" "" "" "0" "" "" "" "" "00276110" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00276111" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00289347" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00289364" "" "" "" "1" "" "01401" "" "" "" "" "Italy" "" "" "" "" "Caucasian" "" "00289365" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "" "" "00289366" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "" "" "" "Caucasian" "" "00289367" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "" "" "00289368" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "" "" "00289369" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "" "" "00293810" "" "" "" "131" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293811" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293812" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293813" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293814" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293815" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293817" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293819" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293820" "" "" "" "266" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295313" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295552" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295988" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296667" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00299692" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00302567" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00302571" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "Caucasian" "" "00302572" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00302573" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "Caucasian" "" "00302574" "" "" "" "1" "" "01401" "" "" "M" "" "(Italy)" "" "" "" "" "Caucasian" "" "00302679" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "Caucasian" "" "00302724" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302823" "" "" "" "1" "" "01401" "" "" "M" "?" "Italy" "" "0" "" "" "Caucasian" "" "00302834" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "" "" "" "Caucasian" "" "00302843" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302844" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302845" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302846" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302847" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302848" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302850" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302851" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302852" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302855" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "Caucasian" "" "00302856" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "Ivumir" "Caucasian" "" "00302857" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302858" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302859" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302860" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "" "" "" "Caucasian" "" "00302861" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "" "" "" "Caucasian" "" "00302862" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302863" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302864" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00302865" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302867" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302868" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00302869" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00303082" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00303083" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "" "" "" "Caucasian" "" "00303084" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "" "" "" "Caucasian" "" "00303085" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "" "" "" "Caucasian" "" "00303086" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "" "" "" "Caucasian" "" "00303091" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "" "" "" "Caucasian" "" "00303092" "" "" "" "1" "" "01401" "" "" "M" "no" "Australia" "" "" "" "" "Caucasian" "" "00303363" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303365" "" "" "" "1" "" "01401" "" "" "?" "" "Italy" "" "0" "" "" "Caucasian" "" "00303366" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303367" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303368" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303522" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00303523" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303524" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00303525" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303526" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00303567" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00303569" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303570" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303571" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303572" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303573" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303574" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303575" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303576" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303577" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303578" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00303579" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303580" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303581" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303582" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00303583" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303584" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00303607" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303608" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303609" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303610" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303611" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00303612" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303613" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303614" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303615" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303616" "" "" "" "1" "" "01401" "" "" "M" "no" "Egypt" "" "0" "" "" "" "" "00303617" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303965" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303966" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303967" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303968" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303969" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303970" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303971" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303972" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "‎Arab-Berber" "" "00303973" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303974" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303975" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00303978" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303979" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303980" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303981" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303982" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303983" "" "" "" "1" "" "01401" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00303984" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303985" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303986" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303987" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "‎Arab-Berber" "" "00303988" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303989" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303990" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303991" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303992" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303993" "" "" "" "1" "" "01401" "" "twins" "M" "" "Italy" "" "0" "" "" "Caucasian" "" "00303994" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303995" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00303996" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00305024" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305025" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306159" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00307673" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00307674" "" "" "" "1" "" "01401" "" "" "F" "no" "Italy" "" "0" "" "" "Caucasian" "" "00307675" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00307676" "" "" "" "1" "" "01401" "" "" "F" "" "Italy" "" "0" "" "" "Caucasian" "" "00307677" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00307678" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00307684" "" "" "" "1" "" "01401" "" "" "M" "no" "Italy" "" "0" "" "" "Caucasian" "" "00307685" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307755" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411100" "00307809" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411386" "00311028" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00311479" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270118" "00311480" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "272559" "00311481" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "258293" "00311482" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "273621" "00311483" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "276919" "00311484" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "259520" "00311485" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "274262" "00311486" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "277112" "00311487" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "258465" "00311488" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "273386" "00315007" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1203" "00315008" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1285" "00320144" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00331530" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "08DG-00226" "00331531" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "12DG2136" "00331532" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "no" "" "" "0" "" "" "" "14DG0664" "00361593" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "08DG-00226" "00374346" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5906" "00374422" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-453" "00374423" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5998" "00374424" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-342" "00374425" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-695" "00374615" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3715" "00374797" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3225" "00382961" "" "" "" "1" "" "01401" "" "" "M" "no" "(Italy)" "" "" "" "" "Caucasian" "" "00387681" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "80" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 318 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00024241" "00000" "00036398" "00198" "00036399" "00198" "00036400" "00198" "00050392" "00198" "00050396" "00198" "00050475" "00198" "00080945" "04599" "00081055" "04599" "00081819" "04599" "00101249" "00000" "00101250" "00000" "00101251" "00000" "00101252" "00000" "00101253" "00000" "00101254" "00000" "00101255" "00000" "00101256" "00000" "00101257" "00000" "00101258" "00000" "00101259" "00000" "00101260" "00000" "00101261" "00000" "00101262" "00000" "00101263" "00000" "00101264" "00000" "00101265" "00000" "00101266" "00198" "00101267" "00198" "00101268" "00198" "00101269" "00198" "00101270" "00198" "00101271" "00198" "00101272" "00198" "00101273" "00198" "00101274" "00198" "00101275" "00198" "00101276" "00198" "00101277" "00198" "00101278" "00198" "00101279" "00198" "00101280" "00198" "00101281" "00198" "00101282" "00198" "00101283" "00198" "00101284" "00198" "00101285" "00198" "00101286" "00198" "00101287" "00198" "00101288" "00198" "00101289" "00198" "00101290" "00198" "00101291" "00198" "00101292" "00198" "00101293" "00198" "00101294" "00198" "00101295" "00198" "00101296" "00198" "00101297" "00198" "00101298" "00198" "00101299" "00198" "00101300" "00198" "00101301" "00198" "00101302" "00198" "00101303" "00198" "00101304" "00198" "00101305" "00198" "00101306" "00198" "00101307" "00198" "00101308" "00198" "00101309" "00198" "00101310" "00198" "00101311" "00198" "00101312" "00198" "00101313" "00198" "00101314" "00198" "00101315" "00198" "00101316" "00198" "00101317" "00198" "00101318" "00198" "00101319" "00198" "00101320" "00198" "00101321" "05245" "00101322" "05245" "00101323" "05245" "00101324" "05245" "00101325" "05245" "00101326" "05245" "00101327" "05245" "00101328" "05245" "00101329" "05245" "00101330" "05245" "00101331" "05245" "00101332" "05245" "00101333" "05245" "00101334" "05245" "00101335" "05245" "00101336" "05245" "00101337" "05245" "00101338" "05245" "00101339" "05245" "00101340" "05245" "00101341" "05245" "00101342" "05245" "00101343" "05245" "00101344" "05245" "00101345" "05245" "00101346" "05245" "00101347" "05245" "00101348" "05245" "00101349" "05245" "00101350" "05245" "00101351" "05245" "00101352" "05245" "00101353" "05245" "00101354" "05245" "00101355" "05245" "00101356" "05245" "00101357" "05245" "00101358" "05245" "00101359" "05245" "00101360" "05245" "00101361" "05245" "00101362" "05245" "00101363" "05245" "00101364" "05245" "00101365" "05245" "00101366" "05245" "00101367" "05245" "00101368" "05245" "00101369" "00133" "00101370" "00133" "00101371" "00133" "00147126" "05162" "00154967" "00198" "00269348" "00198" "00269369" "05245" "00269370" "04599" "00269594" "04599" "00269595" "04599" "00269598" "04599" "00276093" "04599" "00276096" "04599" "00276100" "04599" "00276108" "04599" "00276110" "04599" "00276111" "04599" "00289347" "00198" "00289364" "04599" "00289365" "04599" "00289366" "04599" "00289367" "04599" "00289368" "04599" "00289369" "04599" "00293810" "00198" "00293811" "00198" "00293812" "00198" "00293813" "00198" "00293814" "00198" "00293815" "00198" "00293817" "00198" "00293819" "00198" "00293820" "00198" "00295313" "00198" "00295552" "00198" "00295988" "00198" "00296667" "00198" "00299692" "00198" "00302567" "05245" "00302571" "04599" "00302572" "04599" "00302573" "04599" "00302574" "04599" "00302679" "04599" "00302724" "04599" "00302823" "04599" "00302834" "04599" "00302843" "04599" "00302844" "04599" "00302845" "04599" "00302846" "04599" "00302847" "04599" "00302848" "04599" "00302850" "04599" "00302851" "04599" "00302852" "04599" "00302855" "04599" "00302856" "04599" "00302857" "04599" "00302858" "04599" "00302859" "04599" "00302860" "04599" "00302861" "04599" "00302862" "04599" "00302863" "04599" "00302864" "04599" "00302865" "04599" "00302867" "04599" "00302868" "04599" "00302869" "04599" "00303082" "04599" "00303083" "04599" "00303084" "04599" "00303085" "04599" "00303086" "04599" "00303091" "04599" "00303092" "04599" "00303363" "04599" "00303365" "04599" "00303366" "04599" "00303367" "04599" "00303368" "04599" "00303522" "04599" "00303523" "04599" "00303524" "04599" "00303525" "04599" "00303526" "04599" "00303567" "04599" "00303569" "04599" "00303570" "04599" "00303571" "04599" "00303572" "04599" "00303573" "04599" "00303574" "04599" "00303575" "04599" "00303576" "04599" "00303577" "04599" "00303578" "04599" "00303579" "04599" "00303580" "04599" "00303581" "04599" "00303582" "04599" "00303583" "04599" "00303584" "04599" "00303607" "04599" "00303608" "04599" "00303609" "04599" "00303610" "04599" "00303611" "04599" "00303612" "04599" "00303613" "04599" "00303614" "04599" "00303615" "04599" "00303616" "04599" "00303617" "04599" "00303965" "04599" "00303966" "04599" "00303967" "04599" "00303968" "04599" "00303969" "04599" "00303970" "04599" "00303971" "04599" "00303972" "04599" "00303973" "04599" "00303974" "04599" "00303975" "04599" "00303978" "04599" "00303979" "04599" "00303980" "04599" "00303981" "04599" "00303982" "04599" "00303983" "04599" "00303984" "04599" "00303985" "04599" "00303986" "04599" "00303987" "04599" "00303988" "04599" "00303989" "04599" "00303990" "04599" "00303991" "04599" "00303992" "04599" "00303993" "04599" "00303994" "04599" "00303995" "04599" "00303996" "04599" "00305024" "00198" "00305025" "00198" "00306159" "00198" "00307673" "04599" "00307674" "04599" "00307675" "04599" "00307676" "04599" "00307677" "04599" "00307678" "04599" "00307684" "04599" "00307685" "00198" "00307755" "00139" "00307809" "00139" "00311028" "00198" "00311479" "00198" "00311480" "00198" "00311481" "00198" "00311482" "00198" "00311483" "00198" "00311484" "00198" "00311485" "00198" "00311486" "00198" "00311487" "00198" "00311488" "00198" "00315007" "00198" "00315008" "00198" "00320144" "00198" "00331530" "05517" "00331531" "05517" "00331532" "05517" "00361593" "00139" "00374346" "00198" "00374422" "00198" "00374423" "00198" "00374424" "00198" "00374425" "00198" "00374615" "00198" "00374797" "00198" "00382961" "04599" "00387681" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00133, 00138, 00139, 00198, 00231, 00908, 04214, 04599, 05162, 05245, 05330, 05378, 05517 ## Count = 241 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Growth}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Kidney/Anomaly}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Disease/Status}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037004" "00198" "00050392" "00006" "Isolated (sporadic)" "" "overgrowth, dyslexia, specific learning disability, macrocephaly, migraine without aura, tall stature" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037008" "00198" "00050396" "00006" "Isolated (sporadic)" "" "large fleshy ears, pigmented nevi, small nail, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037087" "00198" "00050475" "00006" "Isolated (sporadic)" "" "intellectual disability, tall stature, abnormality of the curvature of the vertebral column, thin corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060514" "04599" "00080945" "01758" "Isolated (sporadic)" "" "Sotos syndrome 1 (OMIM:117550)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060624" "04599" "00081055" "01758" "Isolated (sporadic)" "" "Sotos syndrome 1 (OMIM:117550)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061470" "04599" "00081819" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079492" "00198" "00101266" "01353" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079493" "00198" "00101267" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079494" "00198" "00101269" "00485" "Familial" "" "muscular hypotonia, infant reluctance to drink, psychomotor retarded, macrosomy, slurred speech (contents hard to make sense of), slightly down-slanting eyes, hypertelorism, ear pretty low-set, plump auricles" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079495" "00198" "00101270" "00485" "Unknown" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079496" "00198" "00101271" "00485" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079497" "00198" "00101272" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079498" "00198" "00101273" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079499" "00198" "00101279" "00485" "Unknown" "" "muscular hypotonia, pretty tall, narrow long face (s)light bitemporal impressions, Orbitaregion rather flattened, forehead prominent (light head-on bossing), ocular region impresses (little bit deep-recumbent eyes, temporally easily down sloping eyelid axis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079500" "00198" "00101282" "00485" "Unknown" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079501" "00198" "00101284" "00485" "Familial" "" "macrocephaly, dysmorphic signs and attention deficits" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079502" "00198" "00101285" "00485" "Familial" "" "tallness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079503" "00198" "00101286" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079504" "00198" "00101287" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079505" "00198" "00101289" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079506" "00198" "00101290" "00485" "Unknown" "" "tallness, small cleft palate and innate neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079507" "00198" "00101291" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079508" "00198" "00101292" "00485" "Unknown" "" "hypotonia, sensomotor retardation, dysmorphic signs, prominent forehead, epicanthus, flat root of nose, dental stance anomalies" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079509" "00198" "00101294" "00485" "Unknown" "" "combined retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079510" "00198" "00101295" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079511" "00198" "00101296" "00485" "Unknown" "" "developmental retardation, especially of language development, macrosomy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079512" "00198" "00101297" "00485" "Unknown" "" "tallness, psychomotor retardation, accelerated bone ageing, slight dilatation of the lateral ventriculus, as well as anomalies of the midline" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079513" "00198" "00101298" "00485" "Unknown" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079514" "00198" "00101301" "00485" "Unknown" "" "mental retardation as well as retardation of language development, 2 affected sisters" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079515" "00198" "00101304" "00485" "Unknown" "" "mental retardation as well as retardation of language development, 2 affected sisters" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079516" "00198" "00101305" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079517" "00198" "00101307" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079518" "00198" "00101308" "00485" "Unknown" "" "tallness with accelerated bone ageing" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079519" "00198" "00101309" "00485" "Unknown" "" "tallness, retardation of language development" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079520" "00198" "00101311" "00485" "Unknown" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079521" "00198" "00101312" "00485" "Familial" "" "psychomotor retardation, macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079522" "00198" "00101313" "00485" "Familial" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079523" "00198" "00101314" "00485" "Familial" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079524" "00198" "00101315" "00485" "Familial" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079525" "00198" "00101316" "00485" "Familial" "" "combined retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079526" "00198" "00101317" "00485" "Familial" "" "tallness, adipositas, macrocephaly, as well as, psychic peculiarities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079527" "00198" "00101320" "00485" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079528" "05245" "00101346" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079529" "05245" "00101347" "00485" "Unknown" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079530" "05245" "00101348" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079531" "05245" "00101349" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079532" "05245" "00101350" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079533" "05245" "00101351" "00485" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079534" "05245" "00101352" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079535" "05245" "00101353" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079536" "05245" "00101354" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079537" "05245" "00101355" "00006" "Isolated (sporadic)" "" "classic Sotos" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079538" "05245" "00101356" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079539" "05245" "00101357" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079540" "05245" "00101358" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079541" "05245" "00101360" "01945" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079542" "05245" "00101361" "01945" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079543" "05245" "00101362" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079544" "05245" "00101366" "00006" "Isolated (sporadic)" "" "Sotos-like" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079545" "05245" "00101367" "00006" "Isolated (sporadic)" "" "Sotos-like" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079546" "05245" "00101368" "00006" "Isolated (sporadic)" "" "Sotos-like" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079547" "05245" "00101321" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079548" "05245" "00101322" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079549" "05245" "00101323" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079550" "05245" "00101324" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079551" "05245" "00101325" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079552" "05245" "00101326" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079553" "05245" "00101327" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079554" "05245" "00101328" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079555" "05245" "00101329" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079556" "05245" "00101330" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079557" "05245" "00101331" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079558" "05245" "00101332" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079559" "05245" "00101333" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079560" "05245" "00101334" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079561" "05245" "00101335" "00485" "Unknown" "" "no clinical information available (sample from collaborating lab)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079562" "05245" "00101336" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079563" "05245" "00101337" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079564" "05245" "00101338" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079565" "05245" "00101339" "00485" "Unknown" "" "motor retardation, macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079566" "05245" "00101340" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079567" "05245" "00101341" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079568" "05245" "00101342" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079569" "05245" "00101343" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079570" "05245" "00101344" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079571" "05245" "00101345" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079572" "00000" "00101260" "00485" "Unknown" "" "not affected" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079573" "00133" "00101369" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079574" "00133" "00101371" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127699" "00198" "00154967" "01807" "Unknown" "" "HP:0001249 (Intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156516" "00198" "00036398" "01164" "Unknown" "" "multiple abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple abnormalities" "" "0000156517" "00198" "00036399" "01164" "Unknown" "" "Sotos syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "0000156518" "00198" "00036400" "01164" "Unknown" "" "severe Muscelhypotonie (floppy infant), akzeleriertes Kopfwachstum, kraniofazial:prominente Stirn, flacher Nasenrücken, leicht nach lateral abfallende Lidachse" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "muscular hypotonia" "" "0000171222" "05162" "00147126" "02357" "Isolated (sporadic)" "" "developmental delay, intellectual disability, no epilepsy, overgrowth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000207180" "00198" "00269348" "01164" "Unknown" "" "Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000207248" "05245" "00269369" "01401" "Isolated (sporadic)" "00y05m" "Dolichocephaly HP:0000268\r\nFrontal bossing HP:0002007\r\nHigh anterior hairline HP:0009890\r\nDownslanted palpebral fissures HP:0000494\r\nHigh-arched palate HP:0000218\r\nPointed chin HP:0000307\r\nAbnormal cardiac septum morphology HP:0001671\r\nNeonatal hypotonia HP:0001319\r\nNeonatal hypoglycemia HP:0001998" "00y00m01d" "" "" "" "" "" "" "" "" "coviello" "" "" "" "" "" "" "" "" "Sotos syndrome" "Suspected Sotos syndrome" "" "0000207249" "04599" "00269370" "01401" "Isolated (sporadic)" "00y11m" "dolichocephaly (HP:0000268), frontal bossing (HP:0002007), high anterior hairline (HP:0009890), downslanted palpebral fissures (HP:0000494), pointed chin (HP:0000307)" "" "" "" "" "" "" "" "01y09m" "" "" "" "" "" "" "" "" "" "" "SOTOS1" "Suspected Sotos syndrome" "" "0000207399" "04599" "00269594" "01401" "Isolated (sporadic)" "" "Aortic root aneurysm HP:0002616" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000207400" "04599" "00269595" "01401" "Isolated (sporadic)" "" "Aortic dilatation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000207401" "04599" "00269598" "01401" "Unknown" "" "Aortic dilatation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "" "0000222966" "00198" "00289347" "01164" "Unknown" "" "Motor delay (HP:0001270); Hydrocephalus (HP:0000238); Hemangioma (HP:0001028); Muscular hypotonia (HP:0001252); Macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223117" "00198" "00295552" "01164" "Unknown" "" "Abnormality of the face (HP:0000271); Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223455" "00198" "00295988" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Neurodevelopmental abnormality (HP:0012759); Growth abnormality (HP:0001507); Macrocephaly (HP:0000256); Abnormality of the skull (HP:0000929); Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224068" "00198" "00296667" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Abnormality of body height (HP:0000002); Macrocephaly (HP:0000256); Abnormality of the skull (HP:0000929); Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000226997" "00198" "00299692" "01164" "Unknown" "" "Large for gestational age (HP:0001520); Macrocephaly (HP:0000256); Increased body weight (HP:0004324); Abnormality of the skull (HP:0000929)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229760" "04599" "00302571" "01401" "Isolated (sporadic)" "" "Prominent forehead,Long face, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229761" "04599" "00302572" "01401" "Isolated (sporadic)" "" "Overgrowth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229762" "04599" "00302573" "01401" "Isolated (sporadic)" "" "Overgrowth,long face, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229763" "04599" "00302679" "01401" "Isolated (sporadic)" "" "Behavioral abnormality,long face,macrocephaly,overgrowth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229808" "04599" "00302724" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229905" "04599" "00302823" "01401" "Isolated (sporadic)" "" "Macrocephaly, Intellectual disability, Coarctation of aorta" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229915" "04599" "00302834" "01401" "Isolated (sporadic)" "" "Long face, Overgrowth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229924" "04599" "00302843" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229925" "04599" "00302844" "01401" "Isolated (sporadic)" "" "Poor coordination,Long face, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229926" "04599" "00302845" "01401" "Isolated (sporadic)" "" "Long face, seizures," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229927" "04599" "00302846" "01401" "Isolated (sporadic)" "" "Behavioral abnormality, intellectual disability, long face,muscular hypotonia\r\n\r\n\r\n," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229928" "04599" "00302847" "01401" "Isolated (sporadic)" "" "Long face, behavioral abnormality, poor coordination, intellectual disability,abnormality of the cardiovascular system,abnormality of the kidney" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229929" "04599" "00302848" "01401" "Isolated (sporadic)" "" "Poor coordination, long face" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229931" "04599" "00302850" "01401" "Isolated (sporadic)" "" "Long face, intellectual disability," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229932" "04599" "00302851" "01401" "Isolated (sporadic)" "" "Long face, overgrowth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229933" "04599" "00302852" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229936" "04599" "00302855" "01401" "Isolated (sporadic)" "" "Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229937" "04599" "00302856" "01401" "Isolated (sporadic)" "" "Behavioral abnormality(HP:0000708),poor motor coordination (HP:0002275),long face (HP:0000276),postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249),Abnormality of the kidney(HP:0000077),Hydronephrosis HP:0000126,Hypoplasia of the corpus callosum (HP:0002079)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229938" "04599" "00302857" "01401" "Isolated (sporadic)" "" "Infantile muscular hypotonia( HP:0008947),Hypoplasia of the corpus callosum (HP:0002079)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229939" "04599" "00302858" "01401" "Complex" "" "Long face (HP:0000276), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229940" "04599" "00302859" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229941" "04599" "00302860" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229942" "04599" "00302862" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229943" "04599" "00302863" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229944" "04599" "00302864" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249),Infantile muscular hypotonia( HP:0008947),Hypoplasia of the corpus callosum (HP:0002079),Pes planus (HP:0001763)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229945" "04599" "00302865" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Abnormality of the kidney(HP:0000077)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229946" "04599" "00302867" "01401" "Isolated (sporadic)" "" "Postnatal macrocephaly (HP:0005490),Behavioral abnormality(HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229947" "04599" "00302868" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Postnatal macrocephaly (HP:0005490)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230165" "04599" "00303082" "01401" "Isolated (sporadic)" "" "Behavioral abnormality(HP:0000708), Poor motor coordination (HP:0002275), Postnatal macrocephaly (HP:0005490), Bone overgrowth( HP:0100774)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230166" "04599" "00303083" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Intellectual disability (HP:0001249), Abnormality of the cardiovascular system (HP:0001626), Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230167" "04599" "00303084" "01401" "Isolated (sporadic)" "" "Abnormality of the cardiovascular system (HP:0001626),Hypoplasia of the corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230168" "04599" "00303085" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230169" "04599" "00303086" "01401" "Isolated (sporadic)" "" "Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230175" "04599" "00303091" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230176" "04599" "00303092" "01401" "Isolated (sporadic)" "" "Postnatal macrocephaly (HP:0005490)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230441" "04599" "00303363" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230442" "04599" "00303366" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Postnatal macrocephaly (HP:0005490), Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230443" "04599" "00303367" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275), Bone overgrowth( HP:0100774), Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230444" "04599" "00303368" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249), Hypoplasia of the corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230599" "04599" "00303522" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275), Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230600" "04599" "00303523" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275), Bone overgrowth( HP:0100774), Hypoplasia of the corpus callosum, Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230601" "04599" "00303524" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230602" "04599" "00303526" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Bone overgrowth( HP:0100774)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230633" "04599" "00303567" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Postnatal macrocephaly (HP:0005490)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230635" "04599" "00303569" "01401" "Isolated (sporadic)" "" "Bone overgrowth( HP:0100774)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230636" "04599" "00303570" "01401" "Isolated (sporadic)" "" "Postnatal macrocephaly (HP:0005490),Intellectual disability (HP:0001249),Seizures (HP:0001250),Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230637" "04599" "00303571" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230638" "04599" "00303572" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230639" "04599" "00303573" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230640" "04599" "00303574" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230641" "04599" "00303575" "01401" "Isolated (sporadic)" "" "Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230642" "04599" "00303577" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230643" "04599" "00303578" "01401" "Isolated (sporadic)" "" "Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230644" "04599" "00303579" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230645" "04599" "00303581" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230646" "04599" "00303583" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230647" "04599" "00303576" "01401" "Isolated (sporadic)" "" "Behavioral abnormality(HP:0000708),Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230668" "04599" "00303580" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230669" "04599" "00303582" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Bone overgrowth( HP:0100774),Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230670" "04599" "00303584" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Bone overgrowth( HP:0100774),Abnormality of the kidney(HP:0000077)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230671" "04599" "00303607" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230672" "04599" "00303608" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230673" "04599" "00303609" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230674" "04599" "00303610" "01401" "Isolated (sporadic)" "" "Behavioral abnormality(HP:0000708) ,Poor motor coordination (HP:0002275),Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230675" "04599" "00303611" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230676" "04599" "00303612" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230677" "04599" "00303613" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230678" "04599" "00303614" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230679" "04599" "00303615" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Bone overgrowth( HP:0100774)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230680" "04599" "00303616" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230681" "04599" "00303617" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231024" "04599" "00303965" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231025" "04599" "00303966" "01401" "Isolated (sporadic)" "" "Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231026" "04599" "00303967" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231027" "04599" "00303968" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231028" "04599" "00303969" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Postnatal macrocephaly (HP:0005490),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231029" "04599" "00303970" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231030" "04599" "00303971" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231031" "04599" "00303973" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231032" "04599" "00303974" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774),Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231033" "04599" "00303975" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231036" "04599" "00303978" "01401" "Isolated (sporadic)" "" "Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231037" "04599" "00303979" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231038" "04599" "00303980" "01401" "Isolated (sporadic)" "" "Hypoplasia of the corpus callosum (HP:0002079),Abnormality of the cardiovascular system (HP:0001626),Long face (HP:0000276),Poor motor coordination (HP:0002275)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231039" "04599" "00303981" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231040" "04599" "00303982" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231041" "04599" "00303983" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231042" "04599" "00303984" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231043" "04599" "00303985" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231044" "04599" "00303986" "01401" "Isolated (sporadic)" "" "Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249),Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231045" "04599" "00303987" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231046" "04599" "00303988" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231047" "04599" "00303989" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276), Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231048" "04599" "00303990" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231049" "04599" "00303991" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774),Abnormality of the cardiovascular system (HP:0001626)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231050" "04599" "00303992" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276),Intellectual disability (HP:0001249),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231051" "04599" "00303993" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774)," "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231052" "04599" "00303994" "01401" "Isolated (sporadic)" "" "Long face (HP:0000276),Bone overgrowth( HP:0100774),Abnormality of the kidney(HP:0000077),Infantile muscular hypotonia( HP:0008947)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231053" "04599" "00303995" "01401" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231054" "04599" "00303996" "01401" "Isolated (sporadic)" "" "Poor motor coordination (HP:0002275),Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231999" "00198" "00306159" "01164" "Unknown" "" "Neurodevelopmental abnormality (HP:0012759); Mild global developmental delay (HP:0011342); Tall stature (HP:0000098); Abnormality of the chin (HP:0000306); Macrocephaly (HP:0000256); Long face (HP:0000276)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233233" "04599" "00307673" "01401" "Isolated (sporadic)" "" "Long face HP:0000268, Overgrowth HP:0001548,Intellectual disability HP:0001249" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233234" "04599" "00307674" "01401" "Isolated (sporadic)" "" "Long face HP:0000268,Delayed myelination HP:0012448" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233235" "04599" "00307675" "01401" "Isolated (sporadic)" "" "Long face HP:0000268,HP:0000256 macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233236" "04599" "00307676" "01401" "Isolated (sporadic)" "" "Poor coordination HP:0002370,Long face HP:0000268, Overgrowth HP:0001548" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233237" "04599" "00307677" "01401" "Isolated (sporadic)" "" "Long face HP:0000268, Overgrowth HP:0001548" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233238" "04599" "00307678" "01401" "Isolated (sporadic)" "" "Behavioral abnormality HP:0000708,Long face HP:0000268, Muscular hypotonia HP:0001252" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233244" "04599" "00307684" "01401" "Isolated (sporadic)" "" "Poor coordination HP:0002370, Long face HP:0000276" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233245" "00198" "00307685" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Absent speech (HP:0001344); Abnormality of cardiac morphology (HP:0001627); Hirsutism (HP:0001007); Abnormality of incisor morphology (HP:0011063); Obesity (HP:0001513); Hypermetropia (HP:0000540); Abnormality of finger (HP:0001167); Global developmental delay (HP:0001263); Abnormality of the lip (HP:0000159); Abnormality of toe (HP:0001780); Absence seizures (HP:0002121); Abnormality of the face (HP:0000271); Thick eyebrow (HP:0000574)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236292" "00198" "00311028" "01164" "Unknown" "" "Delayed speech and language development (HP:0000750); Macrocephaly (HP:0000256); Tall stature (HP:0000098)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236725" "00198" "00311479" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236726" "00198" "00311480" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236727" "00198" "00311481" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236728" "00198" "00311482" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236729" "00198" "00311483" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236730" "00198" "00311484" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236731" "00198" "00311485" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236732" "00198" "00311486" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236733" "00198" "00311487" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236734" "00198" "00311488" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238759" "00198" "00315007" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "chromatinopathy" "" "0000238760" "00198" "00315008" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "chromatinopathy" "" "0000242190" "00198" "00320144" "01807" "Unknown" "" "Tall stature (HP:0000098); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Patent ductus arteriosus (HP:0001643); Patent foramen ovale (HP:0001655); Dysharmonic accelerated bone age (HP:0200001)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249722" "05517" "00331530" "00000" "Familial, autosomal dominant" "" "Abnormal facial shape, Hypoplasia of the corpus callosum, Periventricular leukomalacia, CNo" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000249723" "05517" "00331531" "00000" "Familial, autosomal dominant" "" "Global developmental delay, Abnormal facial shape, Overgrowth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000249724" "05517" "00331532" "00000" "Familial, autosomal dominant" "" "Non Arab Macrocephaly, Global developmental delay, Hypertonia, Dilation of lateral ventricles" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000256998" "00139" "00361593" "00006" "Isolated (sporadic)" "1y2m" "syndromic; global developmental delay, FTT, micrognathia and CHD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269556" "00198" "00374346" "00006" "Familial, autosomal recessive" "" "Features suggestive of Charcot-Marie-Tooth disease and spinal muscular atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269632" "00198" "00374422" "00006" "Familial, autosomal dominant" "" "Macrocephaly, broad frontal region, deep set nails, downslanting eyes, micrognathia and advanced bone age" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "0000269633" "00198" "00374423" "00006" "Familial, autosomal dominant" "" "Overgrowth, broad forehead, downslanting eyes, thinning of corpus callosum and large hands and feet" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "0000269634" "00198" "00374424" "00006" "Familial, autosomal dominant" "" "Generalized seizures, global developmental delay, loss of white matter, congnitive deficit, delayed speech, ID, anemia, tall stature, facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "0000269635" "00198" "00374425" "00006" "Familial, autosomal dominant" "" "Overgrowth, scoliosis and pointed chin" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "0000269825" "00198" "00374615" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "0000270007" "00198" "00374797" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability" "" "0000276816" "04599" "00382961" "01401" "Isolated (sporadic)" "" "Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249),Seizures (HP:0001250), Pes planus (HP:0001763)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281244" "04214" "00387681" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "Other" "" ## Screenings ## Do not remove or alter this header ## ## Count = 323 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000102" "00000102" "1" "00004" "" "2012-05-11 13:19:45" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000024235" "00024241" "1" "00006" "00006" "2014-11-08 17:01:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000036467" "00036397" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036468" "00036398" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036469" "00036399" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036470" "00036400" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036471" "00036401" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036472" "00036402" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050337" "00050392" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050341" "00050396" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050420" "00050475" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081057" "00080945" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081167" "00081055" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081949" "00081819" "1" "01741" "01741" "2016-10-24 13:59:10" "" "" "SEQ" "DNA" "" "" "0000101697" "00101249" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101698" "00101250" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101699" "00101251" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101700" "00101252" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101701" "00101253" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101702" "00101254" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101703" "00101255" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101704" "00101256" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101705" "00101257" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101706" "00101258" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101707" "00101259" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101708" "00101260" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101709" "00101261" "0" "01353" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101710" "00101262" "0" "01353" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101711" "00101263" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101712" "00101264" "0" "01353" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101713" "00101265" "0" "01353" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101714" "00101266" "0" "01353" "01353" "2008-10-31 16:23:50" "" "" "SEQ" "DNA" "" "" "0000101715" "00101267" "0" "00006" "01353" "2008-10-14 14:49:47" "" "" "SEQ" "DNA" "" "" "0000101716" "00101268" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101717" "00101269" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101718" "00101270" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101719" "00101271" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101720" "00101272" "0" "01353" "01353" "2008-11-24 13:48:38" "" "" "SEQ" "DNA" "" "" "0000101721" "00101273" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101722" "00101274" "0" "01353" "01353" "2008-11-24 12:35:42" "" "" "SEQ" "DNA" "" "" "0000101723" "00101275" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101724" "00101276" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101725" "00101277" "0" "00006" "01353" "2008-10-14 10:16:06" "01353" "2008-10-14 10:17:26" "SEQ" "DNA" "" "" "0000101726" "00101278" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101727" "00101279" "0" "00485" "00485" "2009-10-30 18:34:35" "00006" "2010-10-24 09:50:41" "SEQ" "DNA" "" "" "0000101728" "00101280" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101729" "00101281" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101730" "00101282" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101731" "00101283" "0" "01353" "01353" "2008-10-31 16:28:28" "" "" "SEQ" "DNA" "" "" "0000101732" "00101284" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101733" "00101285" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101734" "00101286" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101735" "00101287" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101736" "00101288" "0" "00006" "01353" "2008-10-14 10:58:39" "" "" "SEQ" "DNA" "" "" "0000101737" "00101289" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101738" "00101290" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101739" "00101291" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101740" "00101292" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101741" "00101293" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101742" "00101294" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101743" "00101295" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101744" "00101296" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101745" "00101297" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101746" "00101298" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101747" "00101299" "0" "00006" "01353" "2008-10-14 11:49:20" "" "" "SEQ" "DNA" "" "" "0000101748" "00101300" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101749" "00101301" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101750" "00101302" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101751" "00101303" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101752" "00101304" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101753" "00101305" "0" "01353" "01353" "2008-10-14 09:50:27" "" "" "SEQ" "DNA" "" "" "0000101754" "00101306" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101755" "00101307" "0" "01353" "01353" "2008-11-24 14:41:31" "" "" "SEQ" "DNA" "" "" "0000101756" "00101308" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101757" "00101309" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101758" "00101310" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101759" "00101311" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101760" "00101312" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101761" "00101313" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101762" "00101314" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101763" "00101315" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101764" "00101316" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101765" "00101317" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101766" "00101318" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101767" "00101319" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101768" "00101320" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101769" "00101321" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101770" "00101322" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "SEQ" "DNA" "" "" "0000101771" "00101323" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101772" "00101324" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101773" "00101325" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101774" "00101326" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101775" "00101327" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101776" "00101328" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101777" "00101329" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "SEQ" "DNA" "" "" "0000101778" "00101330" "0" "00485" "00485" "2010-10-24 09:49:37" "" "" "SEQ" "DNA" "" "" "0000101779" "00101331" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101780" "00101332" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101781" "00101333" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101782" "00101334" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101783" "00101335" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101784" "00101336" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101785" "00101337" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101786" "00101338" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101787" "00101339" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101788" "00101340" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101789" "00101341" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101790" "00101342" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101791" "00101343" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101792" "00101344" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101793" "00101345" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101794" "00101346" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101795" "00101347" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101796" "00101348" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "SEQ" "DNA" "" "" "0000101797" "00101349" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101798" "00101350" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101799" "00101351" "0" "00485" "00485" "2009-10-30 18:34:35" "" "" "SEQ" "DNA" "" "" "0000101800" "00101352" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101801" "00101353" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "RT-PCR;SEQ" "RNA" "" "" "0000101802" "00101354" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101803" "00101355" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101804" "00101356" "1" "00006" "00006" "2008-01-16 22:29:07" "00006" "2017-03-24 12:50:18" "FISH" "DNA" "" "" "0000101805" "00101357" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "FISH" "DNA" "" "" "0000101806" "00101358" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "FISH" "DNA" "" "" "0000101807" "00101359" "0" "01353" "01353" "2009-10-30 10:11:23" "" "" "SEQ" "DNA" "" "" "0000101808" "00101360" "0" "01945" "01945" "2014-08-05 15:47:45" "" "" "SEQ" "DNA" "" "" "0000101809" "00101361" "0" "01945" "01945" "2014-08-05 16:05:23" "" "" "SEQ" "DNA" "" "" "0000101810" "00101362" "0" "01353" "01353" "2009-10-29 17:24:46" "" "" "SEQ" "DNA" "" "" "0000101811" "00101363" "0" "01353" "01353" "2009-10-21 14:44:41" "01353" "2009-10-22 11:18:10" "SEQ" "DNA" "" "" "0000101812" "00101364" "0" "01353" "01353" "2009-10-21 15:20:10" "01353" "2009-10-22 11:19:10" "SEQ" "DNA" "" "" "0000101813" "00101365" "0" "01353" "01353" "2009-10-22 11:00:52" "" "" "SEQ" "DNA" "" "" "0000101814" "00101366" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101815" "00101367" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101816" "00101368" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101817" "00101369" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101818" "00101370" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000101819" "00101371" "0" "00006" "00006" "2008-01-16 22:29:07" "" "" "CSGE" "DNA" "" "" "0000147981" "00147126" "1" "02357" "02357" "2018-01-02 11:02:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000155830" "00154967" "0" "01807" "01807" "2018-03-07 04:18:33" "" "" "SEQ" "DNA" "" "" "0000270490" "00269348" "1" "01164" "01164" "2019-11-20 18:18:34" "" "" "SEQ-NG-S" "DNA" "" "" "0000270512" "00269369" "1" "01401" "01401" "2019-11-21 12:58:12" "01401" "2019-11-25 11:54:53" "DHPLC" "DNA" "Blood" "exon from 2 to 23" "0000270513" "00269370" "1" "01401" "01401" "2019-11-21 15:23:01" "01401" "2019-11-25 12:13:24" "DHPLC" "DNA" "Blood" "" "0000270751" "00269594" "1" "01401" "01401" "2019-12-01 21:00:12" "" "" "DHPLC" "DNA" "Blood" "" "0000270752" "00269595" "1" "01401" "01401" "2019-12-01 21:36:36" "" "" "HPLC" "DNA" "Blood" "" "0000270754" "00269598" "1" "01401" "01401" "2019-12-02 22:03:40" "" "" "DHPLC" "DNA" "Blood" "" "0000277238" "00276093" "1" "01401" "01401" "2020-01-27 10:37:41" "" "" "DHPLC" "DNA" "Blood" "" "0000277241" "00276096" "1" "01401" "01401" "2020-01-27 11:05:11" "" "" "DHPLC" "DNA" "Blood" "" "0000277245" "00276100" "1" "01401" "01401" "2020-01-27 11:22:40" "" "" "DHPLC" "DNA" "Blood" "" "0000277253" "00276108" "1" "01401" "01401" "2020-01-27 11:50:08" "" "" "DHPLC" "DNA" "Blood" "" "0000277255" "00276110" "1" "01401" "01401" "2020-01-27 12:02:28" "" "" "DHPLC" "DNA" "Blood" "" "0000277256" "00276111" "1" "01401" "01401" "2020-01-27 12:20:42" "" "" "DHPLC" "DNA" "Blood" "" "0000290517" "00289347" "1" "01164" "01164" "2020-03-05 10:31:49" "" "" "SEQ-NG-S" "DNA" "" "" "0000290535" "00289364" "1" "01401" "01401" "2020-03-05 15:53:27" "" "" "DHPLC" "DNA" "Blood" "" "0000290536" "00289365" "1" "01401" "01401" "2020-03-05 16:21:01" "" "" "DHPLC" "DNA" "Blood" "" "0000290537" "00289366" "1" "01401" "01401" "2020-03-05 16:43:21" "" "" "DHPLC" "DNA" "Blood" "" "0000290538" "00289367" "1" "01401" "01401" "2020-03-05 16:54:18" "" "" "DHPLC" "DNA" "Blood" "" "0000290539" "00289368" "1" "01401" "01401" "2020-03-05 17:01:41" "" "" "DHPLC" "DNA" "Blood" "" "0000290540" "00289369" "1" "01401" "01401" "2020-03-05 17:10:45" "" "" "DHPLC" "DNA" "Blood" "" "0000294978" "00293810" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294979" "00293811" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294980" "00293812" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294981" "00293813" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294982" "00293814" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294983" "00293815" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294985" "00293817" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294987" "00293819" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294988" "00293820" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296481" "00295313" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296722" "00295552" "1" "01164" "01164" "2020-03-18 10:47:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000297159" "00295988" "1" "01164" "01164" "2020-04-01 11:00:37" "" "" "SEQ-NG-S" "DNA" "" "" "0000297777" "00296667" "1" "01164" "01164" "2020-04-10 08:44:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000300802" "00299692" "1" "01164" "01164" "2020-04-20 10:28:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000303692" "00302567" "1" "01401" "01401" "2020-05-25 16:41:46" "" "" "DHPLC" "DNA" "blood" "" "0000303693" "00302571" "1" "01401" "01401" "2020-05-25 17:27:18" "" "" "DHPLC" "DNA" "blood" "" "0000303694" "00302572" "1" "01401" "01401" "2020-05-25 17:41:05" "" "" "DHPLC" "DNA" "blood" "" "0000303695" "00302573" "1" "01401" "01401" "2020-05-25 17:52:28" "" "" "DHPLC" "DNA" "blood" "" "0000303804" "00302574" "1" "01401" "01401" "2020-05-28 17:25:53" "" "" "DHPLC" "DNA" "blood" "" "0000303805" "00302679" "1" "01401" "01401" "2020-05-28 17:42:47" "" "" "DHPLC" "DNA" "blood" "" "0000303850" "00302724" "1" "01401" "01401" "2020-05-29 16:59:51" "" "" "DHPLC" "DNA" "blood" "" "0000303949" "00302823" "1" "01401" "01401" "2020-06-01 14:16:00" "" "" "DHPLC" "DNA" "Blood" "" "0000303960" "00302834" "1" "01401" "01401" "2020-06-01 22:14:20" "" "" "DHPLC" "DNA" "Blood" "" "0000303970" "00302843" "1" "01401" "01401" "2020-06-02 11:41:19" "" "" "DHPLC" "DNA" "blood" "" "0000303971" "00302844" "1" "01401" "01401" "2020-06-02 11:53:45" "" "" "DHPLC" "DNA" "blood" "" "0000303972" "00302845" "1" "01401" "01401" "2020-06-02 12:00:58" "" "" "DHPLC" "DNA" "blood" "" "0000303973" "00302846" "1" "01401" "01401" "2020-06-02 12:12:23" "" "" "DHPLC" "DNA" "blood" "" "0000303974" "00302847" "1" "01401" "01401" "2020-06-02 12:55:33" "" "" "DHPLC" "DNA" "blood" "" "0000303975" "00302848" "1" "01401" "01401" "2020-06-02 13:03:32" "" "" "DSCA" "DNA" "blood" "" "0000303977" "00302850" "1" "01401" "01401" "2020-06-02 13:12:39" "" "" "DHPLC" "DNA" "blood" "" "0000303978" "00302851" "1" "01401" "01401" "2020-06-02 14:16:33" "" "" "DHPLC" "DNA" "blood" "" "0000303979" "00302852" "1" "01401" "01401" "2020-06-02 15:17:30" "" "" "DHPLC" "DNA" "blood" "" "0000303982" "00302855" "1" "01401" "01401" "2020-06-02 15:38:20" "" "" "DHPLC" "DNA" "blood" "" "0000303983" "00302856" "1" "01401" "01401" "2020-06-02 15:51:09" "" "" "DHPLC" "DNA" "blood" "" "0000303984" "00302857" "1" "01401" "01401" "2020-06-02 16:01:33" "" "" "DHPLC" "DNA" "blood" "" "0000303985" "00302858" "1" "01401" "01401" "2020-06-02 16:10:45" "" "" "DHPLC" "DNA" "blood" "" "0000303986" "00302859" "1" "01401" "01401" "2020-06-02 16:27:24" "" "" "DHPLC" "DNA" "blood" "" "0000303987" "00302860" "1" "01401" "01401" "2020-06-02 16:32:55" "" "" "DHPLC" "DNA" "blood" "" "0000303988" "00302861" "1" "01401" "01401" "2020-06-02 16:37:20" "" "" "DHPLC" "DNA" "blood" "" "0000303989" "00302862" "1" "01401" "01401" "2020-06-02 16:43:40" "" "" "DHPLC" "DNA" "blood" "" "0000303990" "00302863" "1" "01401" "01401" "2020-06-02 16:58:42" "" "" "DHPLC" "DNA" "blood" "" "0000303991" "00302864" "1" "01401" "01401" "2020-06-02 17:18:27" "" "" "DHPLC" "DNA" "blood" "" "0000303992" "00302865" "1" "01401" "01401" "2020-06-02 18:44:30" "" "" "DHPLC" "DNA" "blood" "" "0000303993" "00302867" "1" "01401" "01401" "2020-06-02 18:54:34" "" "" "DHPLC" "DNA" "blood" "" "0000303994" "00302868" "1" "01401" "01401" "2020-06-02 19:21:03" "" "" "DHPLC" "DNA" "blood" "" "0000303995" "00302869" "1" "01401" "01401" "2020-06-02 19:26:35" "" "" "DHPLC" "DNA" "blood" "" "0000304207" "00303082" "1" "01401" "01401" "2020-06-05 16:29:59" "" "" "DHPLC" "DNA" "Blood" "" "0000304208" "00303083" "1" "01401" "01401" "2020-06-05 16:47:57" "" "" "DHPLC" "DNA" "Blood" "" "0000304209" "00303084" "1" "01401" "01401" "2020-06-05 16:56:08" "" "" "DHPLC" "DNA" "Blood" "" "0000304210" "00303085" "1" "01401" "01401" "2020-06-05 17:05:02" "" "" "DHPLC" "DNA" "Blood" "" "0000304211" "00303086" "1" "01401" "01401" "2020-06-05 17:11:21" "" "" "DHPLC" "DNA" "Blood" "" "0000304216" "00303091" "1" "01401" "01401" "2020-06-06 09:44:03" "" "" "DHPLC" "DNA" "Blood" "" "0000304217" "00303092" "1" "01401" "01401" "2020-06-06 10:00:38" "" "" "DHPLC" "DNA" "Blood" "" "0000304489" "00303363" "1" "01401" "01401" "2020-06-10 17:28:42" "" "" "DHPLC" "DNA" "Blood" "" "0000304491" "00303365" "1" "01401" "01401" "2020-06-10 17:41:36" "" "" "DHPLC" "DNA" "Blood" "" "0000304492" "00303366" "1" "01401" "01401" "2020-06-10 17:51:41" "" "" "DHPLC" "DNA" "Blood" "" "0000304493" "00303367" "1" "01401" "01401" "2020-06-10 18:15:15" "" "" "DHPLC" "DNA" "Blood" "" "0000304494" "00303368" "1" "01401" "01401" "2020-06-10 18:22:06" "" "" "DHPLC" "DNA" "Blood" "" "0000304650" "00303522" "1" "01401" "01401" "2020-06-15 17:47:55" "" "" "DHPLC" "DNA" "Blood" "" "0000304651" "00303523" "1" "01401" "01401" "2020-06-15 17:53:41" "" "" "DHPLC" "DNA" "Blood" "" "0000304652" "00303524" "1" "01401" "01401" "2020-06-15 18:00:51" "" "" "DHPLC" "DNA" "Blood" "" "0000304653" "00303525" "1" "01401" "01401" "2020-06-15 18:05:19" "" "" "DHPLC" "DNA" "Blood" "" "0000304654" "00303526" "1" "01401" "01401" "2020-06-15 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"0000101713" "NSD1" "0000101714" "NSD1" "0000101715" "NSD1" "0000101716" "NSD1" "0000101717" "NSD1" "0000101718" "NSD1" "0000101719" "NSD1" "0000101720" "NSD1" "0000101721" "NSD1" "0000101722" "NSD1" "0000101723" "NSD1" "0000101724" "NSD1" "0000101725" "NSD1" "0000101726" "NSD1" "0000101727" "NSD1" "0000101728" "NSD1" "0000101729" "NSD1" "0000101730" "NSD1" "0000101731" "NSD1" "0000101732" "NSD1" "0000101733" "NSD1" "0000101734" "NSD1" "0000101735" "NSD1" "0000101736" "NSD1" "0000101737" "NSD1" "0000101738" "NSD1" "0000101739" "NSD1" "0000101740" "NSD1" "0000101741" "NSD1" "0000101742" "NSD1" "0000101743" "NSD1" "0000101744" "NSD1" "0000101745" "NSD1" "0000101746" "NSD1" "0000101747" "NSD1" "0000101748" "NSD1" "0000101749" "NSD1" "0000101750" "NSD1" "0000101751" "NSD1" "0000101752" "NSD1" "0000101753" "NSD1" "0000101754" "NSD1" "0000101755" "NSD1" "0000101756" "NSD1" "0000101757" "NSD1" "0000101758" "NSD1" "0000101759" "NSD1" "0000101760" "NSD1" "0000101761" "NSD1" "0000101762" "NSD1" "0000101763" "NSD1" "0000101764" "NSD1" "0000101765" "NSD1" "0000101766" "NSD1" "0000101767" "NSD1" "0000101768" "NSD1" "0000101769" "NSD1" "0000101770" "NSD1" "0000101771" "NSD1" "0000101772" "NSD1" "0000101773" "NSD1" "0000101774" "NSD1" "0000101775" "NSD1" "0000101776" "NSD1" "0000101777" "NSD1" "0000101778" "NSD1" "0000101779" "NSD1" "0000101780" "NSD1" "0000101781" "NSD1" "0000101782" "NSD1" "0000101783" "NSD1" "0000101784" "NSD1" "0000101785" "NSD1" "0000101786" "NSD1" "0000101787" "NSD1" "0000101788" "NSD1" "0000101789" "NSD1" "0000101790" "NSD1" "0000101791" "NSD1" "0000101792" "NSD1" "0000101793" "NSD1" "0000101794" "NSD1" "0000101795" "NSD1" "0000101796" "NSD1" "0000101797" "NSD1" "0000101798" "NSD1" "0000101799" "NSD1" "0000101800" "NSD1" "0000101801" "NSD1" "0000101802" "NSD1" "0000101803" "NSD1" "0000101804" "NSD1" "0000101805" "NSD1" "0000101806" "NSD1" "0000101807" "NSD1" "0000101808" "NSD1" "0000101809" "NSD1" "0000101810" "NSD1" "0000101811" "NSD1" "0000101812" "NSD1" "0000101813" "NSD1" "0000101814" "NSD1" "0000101815" "NSD1" "0000101816" "NSD1" "0000101817" "NSD1" "0000101818" "NSD1" "0000101819" "NSD1" "0000147981" "NSD1" "0000270512" "NSD1" "0000270513" "NSD1" "0000270751" "NSD1" "0000270752" "NSD1" "0000270754" "NSD1" "0000277238" "NSD1" "0000277241" "NSD1" "0000277245" "NSD1" "0000277253" "NSD1" "0000277255" "NSD1" "0000277256" "NSD1" "0000290535" "NSD1" "0000290536" "NSD1" "0000290537" "NSD1" "0000290538" "NSD1" "0000290539" "NSD1" "0000290540" "NSD1" "0000303692" "NSD1" "0000303693" "NSD1" "0000303694" "NSD1" "0000303695" "NSD1" "0000303804" "NSD1" "0000303805" "NSD1" "0000303850" "NSD1" "0000303949" "NSD1" "0000303960" "NSD1" "0000303970" "NSD1" "0000303971" "NSD1" "0000303972" "NSD1" "0000303973" "NSD1" "0000303974" "NSD1" "0000303975" "NSD1" "0000303977" "NSD1" "0000303978" "NSD1" "0000303979" "NSD1" "0000303982" "NSD1" "0000303983" "NSD1" "0000303984" "NSD1" "0000303985" "NSD1" "0000303986" "NSD1" "0000303987" "NSD1" "0000303988" "NSD1" "0000303989" "NSD1" "0000303990" "NSD1" "0000303991" "NSD1" "0000303992" "NSD1" "0000303993" "NSD1" "0000303994" "NSD1" "0000303995" "NSD1" "0000304207" "NSD1" "0000304208" "NSD1" "0000304209" "NSD1" "0000304210" "NSD1" "0000304211" "NSD1" "0000304216" "NSD1" "0000304217" "NSD1" "0000304489" "NSD1" "0000304491" "NSD1" "0000304492" "NSD1" "0000304493" "NSD1" "0000304494" "NSD1" "0000304650" "NSD1" "0000304651" "NSD1" "0000304652" "NSD1" "0000304653" "NSD1" "0000304654" "NSD1" "0000304695" "NSD1" "0000304697" "NSD1" "0000304698" "NSD1" "0000304699" "NSD1" "0000304700" "NSD1" "0000304701" "NSD1" "0000304702" "NSD1" "0000304703" "NSD1" "0000304704" "NSD1" "0000304705" "NSD1" "0000304706" "NSD1" "0000304707" "NSD1" "0000304708" "NSD1" "0000304709" "NSD1" "0000304710" "NSD1" "0000304711" "NSD1" "0000304734" "NSD1" "0000304735" "NSD1" "0000304736" "NSD1" "0000304737" "NSD1" "0000304738" "NSD1" "0000304739" "NSD1" "0000304740" "NSD1" "0000304741" "NSD1" "0000304742" "NSD1" "0000304743" "NSD1" "0000304744" "NSD1" "0000304745" "NSD1" "0000305093" "NSD1" "0000305094" "NSD1" "0000305095" "NSD1" "0000305096" "NSD1" "0000305097" "NSD1" "0000305098" "NSD1" "0000305099" "NSD1" "0000305100" "NSD1" "0000305101" "NSD1" "0000305102" "NSD1" "0000305103" "NSD1" "0000305106" "NSD1" "0000305107" "NSD1" "0000305108" "NSD1" "0000305109" "NSD1" "0000305110" "NSD1" "0000305111" "NSD1" "0000305112" "NSD1" "0000305113" "NSD1" "0000305114" "NSD1" "0000305115" "NSD1" "0000305116" "NSD1" "0000305117" "NSD1" "0000305118" "NSD1" "0000305119" "NSD1" "0000305120" "NSD1" "0000305121" "NSD1" "0000305122" "NSD1" "0000305123" "NSD1" "0000305124" "NSD1" "0000308814" "NSD1" "0000308815" "NSD1" "0000308816" "NSD1" "0000308817" "NSD1" "0000308818" "NSD1" "0000308819" "NSD1" "0000308824" "NSD1" "0000308895" "NSD1" "0000308949" "NSD1" "0000308966" "NSD1" "0000308967" "NSD1" "0000312649" "NSD1" "0000312650" "NSD1" "0000312651" "NSD1" "0000312652" "NSD1" "0000312653" "NSD1" "0000312654" "NSD1" "0000312655" "NSD1" "0000312656" "NSD1" "0000312657" "NSD1" "0000312658" "NSD1" "0000316183" "NSD1" "0000316184" "NSD1" "0000332749" "NSD1" "0000332750" "NSD1" "0000332751" "NSD1" "0000362821" "NSD1" "0000375540" "IGHMBP2" "0000375616" "NSD1" "0000375617" "NSD1" "0000375618" "NSD1" "0000375619" "NSD1" "0000375809" "NSD1" "0000375991" "NSD1" "0000384184" "NSD1" "0000388907" "NSD1" ## 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 = 511 "{{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}}" "0000001048" "0" "50" "5" "176638191" "176638191" "subst" "0" "00002" "NSD1_000111" "g.176638191C>G" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "0" "" "" "g.177211190C>G" "" "VUS" "" "0000001049" "0" "50" "5" "176639304" "176639304" "subst" "0" "00002" "NSD1_000112" "g.176639304C>G" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "0" "" "" "g.177212303C>G" "" "VUS" "" "0000001050" "3" "50" "5" "176639304" "176639304" "subst" "0" "00002" "NSD1_000112" "g.176639304C>G" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "0" "" "" "g.177212303C>G" "" "VUS" "" "0000001051" "3" "50" "5" "176639304" "176639304" "subst" "0" "00002" "NSD1_000112" "g.176639304C>G" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "0" "" "" "g.177212303C>G" "" "VUS" "" "0000001052" "0" "50" "5" "176721272" "176721272" "subst" "0.190569" "00002" "NSD1_000053" "g.176721272G>C" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "0" "" "" "g.177294271G>C" "" "VUS" "" "0000001053" "0" "50" "5" "176721272" "176721272" "subst" "0.190569" "00002" "NSD1_000053" "g.176721272G>C" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "0" "" "" "g.177294271G>C" "" "VUS" "" "0000046793" "0" "30" "5" "176715871" "176715871" "subst" "0" "00006" "NSD1_000101" "g.176715871C>G" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.177288870C>G" "" "likely benign" "" "0000063592" "1" "50" "5" "176720974" "176720974" "subst" "0" "01164" "NSD1_000105" "g.176720974G>A" "" "" "" "" "PolyPhen:prob.damag.(PSIC: 0,999); Cys2202Tyr+Cys2202Arg described as pathogenic" "Germline" "" "" "0" "" "" "g.177293973G>A" "" "VUS" "" "0000063593" "1" "10" "5" "176719140" "176719140" "subst" "0.00027618" "01164" "NSD1_000104" "g.176719140T>C" "" "" "" "" "" "Germline" "" "rs146601031" "0" "" "" "g.177292139T>C" "" "benign" "" "0000063594" "1" "90" "5" "176707797" "176707797" "subst" "0" "01164" "NSD1_000103" "g.176707797C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177280796C>T" "" "pathogenic" "" "0000063595" "1" "90" "5" "176638977" "176638978" "ins" "0" "01164" "NSD1_000107" "g.176638977_176638978insAA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177211976_177211977insAA" "" "pathogenic" "" "0000063596" "1" "10" "5" "176563079" "176563079" "subst" "0.0214231" "01164" "NSD1_000106" "g.176563079A>G" "" "" "" "" "" "Germline" "" "rs79928962" "0" "" "" "g.177136078A>G" "" "benign" "" "0000063597" "1" "50" "5" "176707786" "176707786" "subst" "0" "01164" "NSD1_000102" "g.176707786G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177280785G>A" "" "VUS" "" "0000079317" "0" "90" "5" "176637498" "176637500" "del" "0" "00006" "NSD1_000108" "g.176637498_176637500del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "176637498_176637498delCAGAinsA" "" "De novo" "" "" "0" "" "" "g.177210497_177210499del" "" "pathogenic" "" "0000079321" "0" "90" "5" "176720974" "176720974" "subst" "0" "00006" "NSD1_000105" "g.176720974G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.177293973G>A" "" "pathogenic" "" "0000079400" "0" "90" "5" "176673677" "176673677" "subst" "0" "00006" "NSD1_000109" "g.176673677A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "splice variant" "De novo" "" "" "0" "" "" "g.177246676A>G" "" "pathogenic" "" "0000130143" "0" "90" "5" "176637723" "176637723" "subst" "0" "01758" "NSD1_000023" "g.176637723C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.177210722C>T" "" "pathogenic" "ACMG" "0000130253" "0" "90" "5" "176636892" "176636892" "subst" "0" "01758" "NSD1_000021" "g.176636892C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.177209891C>T" "" "pathogenic" "ACMG" "0000134723" "0" "90" "5" "176638438" "176638438" "subst" "0" "01741" "NSD1_000110" "g.176638438C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177211437C>G" "" "pathogenic" "" "0000164433" "0" "10" "5" "176707544" "176707544" "subst" "0.0469894" "00485" "NSD1_000048" "g.176707544G>A" ">0.01" "" "" "" "" "Germline" "" "" "0" "" "" "g.177280543G>A" "" "benign" "" "0000164434" "0" "10" "5" "176720766" "176720766" "subst" "0" "00485" "NSD1_000072" "g.176720766G>A" ">0.01" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.177293765G>A" "" "benign" "" "0000164435" "0" "90" "5" "175900000" "177550000" "" "0" "00006" "NSD1_000002" "g.(175800000_176000000)_(177500000_177600000)del" "19/30 cases" "{PMID:Kurotaki 2002:11896389}, {OMIM606681:0001}" "" "" "2.2 Mb deletion incl. HSPC111 to KIAA1100 (RP11-103O5_RP11-147K7)_(RP11-1006E8_RP11-1107B24)del" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000164436" "0" "90" "5" "176300000" "177550000" "" "0" "00006" "NSD1_000003" "g.(176200000_176400000)_(177500000_177600000)del" "1/30 cases" "{PMID:Kurotaki 2002:11896389}" "" "" "1.8 Mb deletion incl. HSPC111 to KIAA1100, (RP11-147K7_RP11-606E24)_(RP11-1006E8_RP11-1107B24)del" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000164437" "0" "99" "5" "176637976" "176637977" "del" "0" "01945" "NSD1_000010" "g.176637976_176637977del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210975_177210976del" "" "pathogenic" "" "0000164438" "0" "59" "5" "176631148" "176631148" "subst" "0" "00006" "NSD1_000059" "g.176631148A>G" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177204147A>G" "" "VUS" "" "0000164439" "0" "99" "5" "176710797" "176710797" "subst" "0" "01353" "NSD1_000054" "g.176710797A>T" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177283796A>T" "" "pathogenic" "" "0000164440" "0" "99" "5" "176715882" "176715882" "subst" "0" "01353" "NSD1_000063" "g.176715882T>C" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177288881T>C" "" "pathogenic" "" "0000164441" "0" "90" "5" "176631228" "176631228" "del" "0" "00006" "NSD1_000008" "g.176631228del" "" "{PMID:Douglas 2003:12464997}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177204227del" "" "pathogenic" "" "0000164442" "0" "90" "5" "176637210" "176637210" "subst" "0" "00006" "NSD1_000022" "g.176637210C>T" "" "{PMID:Douglas 2003:12464997}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177210209C>T" "" "pathogenic" "" "0000164443" "0" "90" "5" "176637723" "176637723" "subst" "0" "00006" "NSD1_000023" "g.176637723C>T" "" "{PMID:Douglas 2003:12464997}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177210722C>T" "" "pathogenic" "" "0000164444" "0" "90" "5" "176673717" "176673717" "subst" "0" "00006" "NSD1_000025" "g.176673717C>T" "" "{PMID:Douglas 2003:12464997}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177246716C>T" "" "pathogenic" "" "0000164445" "0" "90" "5" "176707687" "176707687" "dup" "0" "00006" "NSD1_000018" "g.176707687dup" "" "{PMID:Douglas 2003:12464997}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177280686dup" "" "pathogenic" "" "0000164446" "0" "90" "5" "176707804" "176707804" "subst" "0" "00006" "NSD1_000027" "g.176707804G>A" "" "{PMID:Douglas 2003:12464997}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177280803G>A" "" "pathogenic" "" "0000164447" "0" "90" "5" "176718998" "176718998" "del" "0" "00006" "NSD1_000014" "g.176718998del" "" "{PMID:Douglas 2003:12464997}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177291997del" "" "pathogenic" "" "0000164448" "0" "90" "5" "176719124" "176719125" "ins" "0" "00006" "NSD1_000019" "g.176719124_176719125ins(17)" "" "{PMID:Douglas 2003:12464997}" "" "6431-2ins17 (A2144fs*2155)" "de novo, in patient" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "" "0000164449" "0" "99" "5" "176637930" "176637937" "delins" "0" "01945" "NSD1_000097" "g.176637930_176637937delinsTGTT" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.177210929_177210936delinsTGTT" "" "pathogenic" "" "0000164450" "0" "90" "5" "176687045" "176687045" "subst" "0" "00006" "NSD1_000032" "g.176687045C>G" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.177260044C>G" "" "pathogenic" "" "0000164451" "0" "90" "5" "176684033" "176684033" "subst" "0" "00006" "NSD1_000030" "g.176684033A>T" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.177257032A>T" "" "pathogenic" "" "0000164452" "0" "90" "5" "176684096" "176684096" "subst" "0" "00006" "NSD1_000031" "g.176684096T>C" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.177257095T>C" "" "pathogenic" "" "0000164453" "0" "90" "5" "176696674" "176696674" "subst" "0" "00006" "NSD1_000033" "g.176696674G>T" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.177269673G>T" "" "pathogenic" "" "0000164454" "0" "90" "5" "176710792" "176710792" "subst" "0" "00006" "NSD1_000035" "g.176710792G>A" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.177283791G>A" "" "pathogenic" "" "0000164455" "0" "90" "5" "176710828" "176710828" "subst" "0" "00006" "NSD1_000036" "g.176710828G>A" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.177283827G>A" "" "pathogenic" "" "0000164456" "0" "90" "5" "176719125" "176719125" "subst" "0" "00006" "NSD1_000037" "g.176719125C>G" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.177292124C>G" "" "pathogenic" "" "0000164457" "0" "90" "5" "176720917" "176720917" "subst" "0" "00006" "NSD1_000038" "g.176720917G>C" "" "{PMID:Douglas 2003:12464997}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.177293916G>C" "" "pathogenic" "" "0000164458" "0" "99" "5" "176637442" "176637442" "dup" "0" "01353" "NSD1_000062" "g.176637442dup" "" "" "" "" "stopcodon after 2 AA" "Germline" "" "" "0" "" "" "g.177210441dup" "" "pathogenic" "" "0000164459" "0" "90" "5" "0" "0" "" "0" "00006" "NSD1_000000" "g.(176563032_176618884)_qterdelins[NC_000008.10:(159900000_168500000)_qter]" "" "{PMID:Kurotaki 2002:11896389}" "" "" "translocation" "Germline/De novo (untested)" "" "" "0" "" "46,XX,t(5;8)(q35;q24.1)" "" "" "pathogenic" "" "0000164460" "0" "55" "5" "176709439" "176709443" "del" "0" "00485" "NSD1_000086" "g.176709439_176709443del" "" "" "" "5893-28_5893-24delTTAAG" "unclassified variant" "Germline" "" "" "0" "" "" "g.177282438_177282442del" "" "VUS" "" "0000164461" "0" "55" "5" "176637432" "176637432" "subst" "0.00000812731" "00485" "NSD1_000076" "g.176637432A>G" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.177210431A>G" "" "VUS" "" "0000164462" "0" "55" "5" "176638235" "176638235" "subst" "0.00208017" "00485" "NSD1_000085" "g.176638235T>C" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.177211234T>C" "" "VUS" "" "0000164463" "0" "55" "5" "176638235" "176638235" "subst" "0.00208017" "00485" "NSD1_000085" "g.176638235T>C" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.177211234T>C" "" "VUS" "" "0000164464" "0" "55" "5" "176638578" "176638578" "subst" "0.0000367113" "00485" "NSD1_000077" "g.176638578C>T" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.177211577C>T" "" "VUS" "" "0000164465" "0" "55" "5" "176662828" "176662828" "subst" "0.0000487817" "00485" "NSD1_000078" "g.176662828G>A" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.177235827G>A" "" "VUS" "" "0000164466" "0" "50" "5" "176694693" "176694694" "ins" "0" "00485" "NSD1_000079" "g.176694693_176694694insA" "" "" "" "5278InsA" "unclassified variant" "Germline" "" "" "0" "" "" "g.177267692_177267693insA" "" "VUS" "" "0000164467" "0" "55" "5" "176709439" "176709443" "del" "0" "00485" "NSD1_000086" "g.176709439_176709443del" "" "" "" "5893-28_5893-24delTTAAG" "unclassified variant" "Germline" "" "" "0" "" "" "g.177282438_177282442del" "" "VUS" "" "0000164468" "0" "55" "5" "176709439" "176709443" "del" "0" "00485" "NSD1_000086" "g.176709439_176709443del" "" "" "" "5893-28_5893-24delTTAAG" "unclassified variant" "Germline" "" "" "0" "" "" "g.177282438_177282442del" "" "VUS" "" "0000164469" "0" "55" "5" "176709439" "176709443" "del" "0" "00485" "NSD1_000086" "g.176709439_176709443del" "" "" "" "5893-28_5893-24delTTAAG" "unclassified variant" "Germline" "" "" "0" "" "" "g.177282438_177282442del" "" "VUS" "" "0000164470" "0" "55" "5" "176709439" "176709443" "del" "0" "00485" "NSD1_000086" "g.176709439_176709443del" "" "" "" "5893-28_5893-24delTTAAG" "unclassified variant" "Germline" "" "" "0" "" "" "g.177282438_177282442del" "" "VUS" "" "0000164471" "0" "55" "5" "176715770" "176715770" "del" "0.000142349" "00485" "NSD1_000080" "g.176715770del" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.177288769del" "" "VUS" "" "0000164472" "0" "55" "5" "176715770" "176715770" "del" "0.000142349" "00485" "NSD1_000080" "g.176715770del" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.177288769del" "" "VUS" "" "0000164473" "0" "55" "5" "176639122" "176639122" "subst" "0.000666114" "00485" "NSD1_000094" "g.176639122G>C" "" "" "" "" "unclassified variant, Polyphen-benign" "Germline" "" "" "0" "" "" "g.177212121G>C" "" "VUS" "" "0000164474" "0" "55" "5" "176639122" "176639122" "subst" "0.000666114" "00485" "NSD1_000094" "g.176639122G>C" "" "" "" "" "unclassified variant, Polyphen-benign" "Germline" "" "" "0" "" "" "g.177212121G>C" "" "VUS" "" "0000164475" "0" "55" "5" "176694589" "176694589" "subst" "0" "00485" "NSD1_000090" "g.176694589T>C" "" "" "" "" "unclassified variant, PolyPhen-probably damaging" "Germline" "" "" "0" "" "" "g.177267588T>C" "" "VUS" "" "0000164476" "0" "55" "5" "176715905" "176715905" "subst" "0" "00485" "NSD1_000092" "g.176715905C>T" "" "" "" "" "unclassified variant; cDNA-analysis probably polymorphism due to biallelic expression" "Germline" "" "" "0" "" "" "g.177288904C>T" "" "VUS" "" "0000164477" "0" "90" "5" "176673711" "176673711" "subst" "0" "00006" "NSD1_000024" "g.176673711C>T" "" "{PMID:Douglas 2003:12464997}" "" "" "variant not in mother" "Germline" "" "" "0" "" "" "g.177246710C>T" "" "pathogenic" "" "0000164478" "0" "90" "5" "176684069" "176684069" "del" "0" "00006" "NSD1_000012" "g.176684069del" "" "{PMID:Douglas 2003:12464997}" "" "" "variant not in mother" "Germline" "" "" "0" "" "" "g.177257068del" "" "pathogenic" "" "0000164479" "0" "90" "5" "176700671" "176700671" "del" "0" "00006" "NSD1_000029" "g.176700671del" "" "{PMID:Douglas 2003:12464997}" "" "" "variant not in mother" "Germline" "" "" "0" "" "" "g.177273670del" "" "pathogenic" "" "0000164480" "0" "90" "5" "176719146" "176719146" "dup" "0" "00006" "NSD1_000020" "g.176719146dup" "" "{PMID:Douglas 2003:12464997}" "" "" "variant not in mother" "Germline" "" "" "0" "" "" "g.177292145dup" "" "pathogenic" "" "0000164481" "0" "90" "5" "176707716" "176707716" "subst" "0" "00006" "NSD1_000034" "g.176707716T>C" "" "{PMID:Douglas 2003:12464997}" "" "" "variant not in mother, not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.177280715T>C" "" "pathogenic" "" "0000164482" "0" "10" "5" "176637149" "176637149" "subst" "0.178261" "00006" "NSD1_000039" "g.176637149G>A" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210148G>A" "" "benign" "" "0000164483" "0" "10" "5" "176637192" "176637192" "subst" "0.012117" "00006" "NSD1_000040" "g.176637192T>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210191T>C" "" "benign" "" "0000164484" "0" "10" "5" "176637240" "176637240" "subst" "0.17797" "00006" "NSD1_000041" "g.176637240G>T" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210239G>T" "" "benign" "" "0000164485" "0" "10" "5" "176637471" "176637471" "subst" "0.0207123" "00006" "NSD1_000042" "g.176637471G>A" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210470G>A" "" "benign" "" "0000164486" "0" "10" "5" "176637576" "176637576" "subst" "0.201939" "00006" "NSD1_000043" "g.176637576T>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210575T>C" "" "benign" "" "0000164487" "0" "10" "5" "176638506" "176638506" "subst" "0.0228326" "00006" "NSD1_000044" "g.176638506G>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177211505G>C" "" "benign" "" "0000164488" "0" "10" "5" "176638671" "176638671" "subst" "0.0000609355" "00006" "NSD1_000045" "g.176638671C>A" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177211670C>A" "" "benign" "" "0000164489" "0" "10" "5" "176639105" "176639105" "subst" "0.0642875" "00006" "NSD1_000046" "g.176639105T>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177212104T>C" "" "benign" "" "0000164490" "0" "10" "5" "176675173" "176675173" "del" "0" "00006" "NSD1_000047" "g.176675173delT" "" "{PMID:Douglas 2003:12464997}" "" "IVS10-9delT" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.177248172delT" "" "benign" "" "0000164491" "0" "10" "5" "176707544" "176707544" "subst" "0.0469894" "00006" "NSD1_000048" "g.176707544G>A" "" "{PMID:Douglas 2003:12464997}" "" "IVS17-22G>A" "" "Germline" "" "" "0" "" "" "g.177280543G>A" "" "benign" "" "0000164492" "0" "10" "5" "176709334" "176709334" "subst" "0" "00006" "NSD1_000049" "g.176709334G>A" "" "{PMID:Douglas 2003:12464997}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.177282333G>A" "" "benign" "" "0000164493" "0" "11" "5" "176721119" "176721119" "subst" "0.0470062" "01353" "NSD1_000050" "g.176721119G>A" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000164494" "0" "11" "5" "176721151" "176721151" "subst" "0.046971" "01353" "NSD1_000051" "g.176721151T>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177294150T>C" "" "benign" "" "0000164495" "0" "10" "5" "176721198" "176721198" "subst" "0" "00485" "NSD1_000073" "g.176721198C>T" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.177294197C>T" "" "benign" "" "0000164496" "0" "11" "5" "176721198" "176721198" "subst" "0.820084" "01353" "NSD1_000052" "g.176721198T>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177294197T>C" "" "benign" "" "0000164497" "0" "11" "5" "176721272" "176721272" "subst" "0.190569" "01353" "NSD1_000053" "g.176721272G>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "rs11740250" "0" "" "" "g.177294271G>C" "" "benign" "" "0000164498" "0" "53" "5" "176562097" "176562097" "subst" "0.00496389" "01353" "NSD1_000060" "g.176562097G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177135096G>A" "" "VUS" "" "0000164499" "0" "10" "5" "176636882" "176636882" "subst" "0.291373" "00485" "NSD1_000069" "g.176636882C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177209881C>T" "" "benign" "" "0000164500" "0" "10" "5" "176636958" "176636958" "subst" "0.000224261" "00485" "NSD1_000070" "g.176636958G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177209957G>A" "" "benign" "" "0000164501" "0" "90" "5" "176637143" "176637143" "del" "0" "00485" "NSD1_000093" "g.176637143del" "" "" "" "1742delA fsX" "" "Germline" "" "" "0" "" "" "g.177210142del" "" "pathogenic" "" "0000164502" "0" "10" "5" "176637192" "176637192" "subst" "0.012117" "00485" "NSD1_000040" "g.176637192T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210191T>C" "" "benign" "" "0000164503" "0" "99" "5" "176637210" "176637210" "subst" "0" "01353" "NSD1_000022" "g.176637210C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210209C>T" "" "pathogenic" "" "0000164504" "0" "10" "5" "176637471" "176637471" "subst" "0.0207123" "00485" "NSD1_000042" "g.176637471G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210470G>A" "" "benign" "" "0000164505" "0" "10" "5" "176637471" "176637471" "subst" "0.0207123" "00485" "NSD1_000042" "g.176637471G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210470G>A" "" "benign" "" "0000164506" "0" "57" "5" "176637524" "176637527" "del" "0" "00006" "NSD1_000056" "g.176637524_176637527del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210523_177210526del" "" "VUS" "" "0000164507" "0" "10" "5" "176637576" "176637576" "subst" "0.201939" "00485" "NSD1_000043" "g.176637576T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210575T>C" "" "benign" "" "0000164508" "0" "10" "5" "176638506" "176638506" "subst" "0.0228326" "00485" "NSD1_000044" "g.176638506G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177211505G>C" "" "benign" "" "0000164509" "0" "55" "5" "176562443" "176562443" "subst" "0.00473553" "01353" "NSD1_000061" "g.176562443C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177135442C>T" "" "VUS" "" "0000164510" "0" "10" "5" "176639105" "176639105" "subst" "0.0642875" "00485" "NSD1_000046" "g.176639105T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177212104T>C" "" "benign" "" "0000164511" "0" "10" "5" "176639105" "176639105" "subst" "0.0642875" "00485" "NSD1_000046" "g.176639105T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177212104T>C" "" "benign" "" "0000164512" "0" "57" "5" "176639197" "176639197" "subst" "0" "00006" "NSD1_000057" "g.176639197G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177212196G>C" "" "VUS" "" "0000164513" "0" "53" "5" "176639218" "176639218" "subst" "0" "00006" "NSD1_000055" "g.176639218A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177212217A>T" "" "VUS" "" "0000164514" "0" "90" "5" "176665462" "176665463" "del" "0" "00485" "NSD1_000081" "g.176665462_176665463del" "" "" "" "4146-4147delTC" "" "Germline" "" "" "0" "" "" "g.177238461_177238462del" "" "pathogenic" "" "0000164515" "0" "90" "5" "176673711" "176673711" "subst" "0" "00485" "NSD1_000024" "g.176673711C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177246710C>T" "" "pathogenic" "" "0000164516" "0" "90" "5" "176673798" "176673798" "subst" "0" "00485" "NSD1_000096" "g.176673798G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177246797G>A" "" "pathogenic" "" "0000164517" "0" "10" "5" "176675173" "176675173" "del" "0" "00485" "NSD1_000047" "g.176675173delT" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.177248172delT" "" "benign" "" "0000164518" "0" "90" "5" "176696631" "176696631" "subst" "0" "00485" "NSD1_000026" "g.176696631C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177269630C>T" "" "pathogenic" "" "0000164519" "0" "90" "5" "176696717" "176696717" "subst" "0" "00485" "NSD1_000095" "g.176696717G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177269716G>A" "" "pathogenic" "" "0000164520" "0" "90" "5" "176696730" "176696730" "subst" "0" "00485" "NSD1_000087" "g.176696730C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177269729C>T" "" "pathogenic" "" "0000164521" "0" "57" "5" "176700744" "176700744" "subst" "0" "00006" "NSD1_000058" "g.176700744C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177273743C>T" "" "VUS" "" "0000164522" "0" "90" "5" "176719045" "176719045" "subst" "0" "00485" "NSD1_000088" "g.176719045C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177292044C>T" "" "pathogenic" "" "0000164523" "0" "90" "5" "176720859" "176720859" "subst" "0" "00485" "NSD1_000091" "g.176720859T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177293858T>C" "" "pathogenic" "" "0000164524" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "00485" "NSD1_000050" "g.176721119G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000164525" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "00485" "NSD1_000050" "g.176721119G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000164526" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "00485" "NSD1_000050" "g.176721119G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000164527" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "00485" "NSD1_000050" "g.176721119G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000164528" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "00485" "NSD1_000050" "g.176721119G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000164529" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "00485" "NSD1_000050" "g.176721119G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000164530" "0" "10" "5" "176721272" "176721272" "subst" "0.190569" "00485" "NSD1_000053" "g.176721272G>C" "" "" "" "" "" "Germline" "" "rs11740251" "0" "" "" "g.177294271G>C" "" "benign" "" "0000164531" "0" "10" "5" "176722005" "176722005" "subst" "0.0240887" "00485" "NSD1_000074" "g.176722005G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177295004G>A" "" "benign" "" "0000164532" "0" "10" "5" "176722219" "176722219" "subst" "0.00140594" "00485" "NSD1_000075" "g.176722219T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177295218T>C" "" "benign" "" "0000164533" "0" "90" "5" "176636710" "176636710" "subst" "0" "00006" "NSD1_000004" "g.176636710C>G" "" "{PMID:Kurotaki 2002:11896389}, {PMID:Nagai 2003:12676901}, {OMIM606681:0002}" "" "" "" "De novo" "" "" "0" "" "" "g.177209709C>G" "" "pathogenic" "" "0000164534" "0" "90" "5" "176637127" "176637127" "del" "0" "00006" "NSD1_000009" "g.176637127del" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210126del" "" "pathogenic" "" "0000164535" "0" "90" "5" "176637210" "176637210" "subst" "0" "00006" "NSD1_000022" "g.176637210C>T" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210209C>T" "" "pathogenic" "" "0000164536" "0" "90" "5" "176638207" "176638207" "dup" "0" "00006" "NSD1_000015" "g.176638207dup" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177211206dup" "" "pathogenic" "" "0000164537" "0" "90" "5" "176638783" "176638784" "del" "0" "00006" "NSD1_000011" "g.176638783_176638784del" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177211782_177211783del" "" "pathogenic" "" "0000164538" "0" "90" "5" "176638936" "176638936" "del" "0" "00006" "NSD1_000005" "g.176638936del" "" "{PMID:Kurotaki 2002:11896389}, {PMID:Nagai 2003:12676901}, {OMIM606681:0003}" "" "" "" "De novo" "" "" "0" "" "" "g.177211935del" "" "pathogenic" "" "0000164539" "0" "90" "5" "176665312" "176665313" "dup" "0" "00485" "NSD1_000089" "g.176665312_176665313dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177238311_177238312dup" "" "pathogenic" "" "0000164540" "0" "90" "5" "176684086" "176684086" "del" "0" "00485" "NSD1_000082" "g.176684086del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177257085del" "" "pathogenic" "" "0000164541" "0" "90" "5" "176687031" "176687031" "dup" "0" "00006" "NSD1_000017" "g.176687031dup" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177260030dup" "" "pathogenic" "" "0000164542" "0" "90" "5" "176694712" "176694712" "subst" "0" "00485" "NSD1_000064" "g.176694712C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177267711C>T" "" "pathogenic" "" "0000164543" "0" "90" "5" "176696602" "176696602" "subst" "0" "00006" "NSD1_000028" "g.176696602G>C" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177269601G>C" "" "pathogenic" "" "0000164544" "0" "90" "5" "176696631" "176696631" "subst" "0" "00006" "NSD1_000026" "g.176696631C>T" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177269630C>T" "" "pathogenic" "" "0000164545" "0" "90" "5" "176707836" "176707836" "subst" "0" "00485" "NSD1_000083" "g.176707836G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177280835G>C" "" "pathogenic" "" "0000164546" "0" "90" "5" "176709570" "176709571" "ins" "0" "00006" "NSD1_000006" "g.176709570_176709571insT" "" "{PMID:Kurotaki 2002:11896389}, {PMID:Nagai 2003:12676901}, {OMIM606681:0004}" "" "5998insT" "" "De novo" "" "" "0" "" "" "g.177282569_177282570insT" "" "pathogenic" "" "0000164547" "0" "90" "5" "176709574" "176709574" "del" "0" "00006" "NSD1_000013" "g.176709574del" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177282573del" "" "pathogenic" "" "0000164548" "0" "90" "5" "176710809" "176710810" "ins" "0" "00485" "NSD1_000084" "g.176710809_176710810insTGGT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177283808_177283809insTGGT" "" "pathogenic" "" "0000164549" "0" "90" "5" "176710930" "176710930" "subst" "0" "00006" "NSD1_000007" "g.176710930G>A" "" "{PMID:Kurotaki 2002:11896389}, {PMID:Nagai 2003:12676901}, {OMIM606681:0005}" "" "" "" "De novo" "-" "" "0" "" "" "g.177283929G>A" "" "pathogenic" "" "0000164550" "0" "11" "5" "176637163" "176637163" "subst" "0" "01353" "NSD1_000068" "g.176637163A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177210162A>C" "" "benign" "" "0000164551" "0" "99" "5" "176687121" "176687121" "subst" "0" "01353" "NSD1_000067" "g.176687121C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177260120C>T" "" "pathogenic" "" "0000164552" "0" "99" "5" "176694712" "176694712" "subst" "0" "01353" "NSD1_000064" "g.176694712C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177267711C>T" "" "pathogenic" "" "0000164553" "0" "99" "5" "176696609" "176696609" "subst" "0" "01353" "NSD1_000065" "g.176696609G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177269608G>A" "" "pathogenic" "" "0000164554" "0" "99" "5" "176710791" "176710791" "subst" "0" "01353" "NSD1_000066" "g.176710791C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177283790C>T" "" "pathogenic" "" "0000164555" "0" "90" "5" "176636892" "176636892" "subst" "0" "00006" "NSD1_000021" "g.176636892C>T" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177209891C>T" "" "pathogenic" "" "0000164556" "0" "90" "5" "176637976" "176637977" "del" "0" "00006" "NSD1_000010" "g.176637976_176637977del" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177210975_177210976del" "" "pathogenic" "" "0000164557" "0" "90" "5" "176638949" "176638949" "dup" "0" "00006" "NSD1_000016" "g.176638949dup" "" "{PMID:Douglas 2003:12464997}" "" "" "" "Germline" "" "" "0" "" "" "g.177211948dup" "" "pathogenic" "" "0000241263" "0" "90" "5" "176637996" "176637996" "subst" "0" "02357" "NSD1_000113" "g.176637996G>T" "" "{PMID:Han 2018:30631761}" "" "1789G>T (Glu866*)" "" "De novo" "" "" "0" "" "" "g.177210995G>T" "" "pathogenic" "" "0000249538" "0" "30" "5" "176720813" "176720813" "subst" "0.000301612" "02325" "NSD1_000175" "g.176720813A>G" "" "" "" "NSD1(NM_022455.4):c.6464-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177293812A>G" "" "likely benign" "" "0000253788" "0" "10" "5" "176718947" "176718947" "subst" "0.0000532089" "01943" "NSD1_000197" "g.176718947A>T" "" "" "" "NSD1(NM_022455.4):c.6259-8A>T (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177291946A>T" "" "benign" "" "0000254752" "0" "30" "5" "176638521" "176638521" "subst" "0.0000162991" "01943" "NSD1_000142" "g.176638521A>G" "" "" "" "NSD1(NM_022455.4):c.3121A>G (p.N1041D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211520A>G" "" "likely benign" "" "0000255229" "0" "30" "5" "176639218" "176639218" "subst" "0" "01943" "NSD1_000055" "g.176639218A>T" "" "" "" "NSD1(NM_022455.4):c.3796+22A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177212217A>T" "" "likely benign" "" "0000255627" "0" "90" "5" "176715831" "176715831" "subst" "0" "01943" "NSD1_000169" "g.176715831A>G" "" "" "" "NSD1(NM_022455.4):c.6163A>G (p.T2055A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177288830A>G" "" "pathogenic" "" "0000296624" "0" "10" "5" "176636882" "176636882" "subst" "0.291373" "02325" "NSD1_000069" "g.176636882C>T" "" "" "" "NSD1(NM_022455.4):c.1482C>T (p.C494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177209881C>T" "" "benign" "" "0000296625" "0" "10" "5" "176637149" "176637149" "subst" "0.178261" "02325" "NSD1_000039" "g.176637149G>A" "" "" "" "NSD1(NM_022455.4):c.1749G>A (p.E583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210148G>A" "" "benign" "" "0000296626" "0" "50" "5" "176637382" "176637382" "subst" "0" "02325" "NSD1_000125" "g.176637382G>A" "" "" "" "NSD1(NM_022455.4):c.1982G>A (p.S661N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210381G>A" "" "VUS" "" "0000296627" "0" "10" "5" "176637576" "176637576" "subst" "0.201939" "02325" "NSD1_000043" "g.176637576T>C" "" "" "" "NSD1(NM_022455.4):c.2176T>C (p.S726P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210575T>C" "" "benign" "" "0000296628" "0" "30" "5" "176638686" "176638686" "subst" "0.000235581" "02325" "NSD1_000146" "g.176638686C>T" "" "" "" "NSD1(NM_022455.4):c.3286C>T (p.H1096Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211685C>T" "" "likely benign" "" "0000296629" "0" "10" "5" "176721198" "176721198" "subst" "0.820084" "02325" "NSD1_000052" "g.176721198T>C" "" "" "" "NSD1(NM_022455.4):c.6829T>C (p.L2277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294197T>C" "" "benign" "" "0000296630" "0" "10" "5" "176721272" "176721272" "subst" "0.190569" "02325" "NSD1_000053" "g.176721272G>C" "" "" "" "NSD1(NM_022455.4):c.6903G>C (p.G2301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294271G>C" "" "benign" "" "0000298750" "0" "90" "5" "176638491" "176638491" "subst" "0" "02329" "NSD1_000141" "g.176638491C>T" "" "" "" "NSD1(NM_022455.4):c.3091C>T (p.R1031*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211490C>T" "" "pathogenic" "" "0000300455" "0" "10" "5" "176638506" "176638506" "subst" "0.0228326" "02326" "NSD1_000044" "g.176638506G>C" "" "" "" "NSD1(NM_022455.4):c.3106G>C (p.A1036P, p.(Ala1036Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211505G>C" "" "benign" "" "0000304573" "0" "90" "5" "176631240" "176631240" "subst" "0" "01943" "NSD1_000119" "g.176631240C>T" "" "" "" "NSD1(NM_022455.4):c.1183C>T (p.L395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177204239C>T" "" "pathogenic" "" "0000304574" "0" "10" "5" "176631302" "176631302" "subst" "0.00000813392" "01943" "NSD1_000120" "g.176631302C>T" "" "" "" "NSD1(NM_022455.4):c.1236+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177204301C>T" "" "benign" "" "0000304575" "0" "10" "5" "176636882" "176636882" "subst" "0.291373" "01943" "NSD1_000069" "g.176636882C>T" "" "" "" "NSD1(NM_022455.4):c.1482C>T (p.C494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177209881C>T" "" "benign" "" "0000304576" "0" "10" "5" "176636915" "176636915" "subst" "0.00160596" "01943" "NSD1_000121" "g.176636915T>C" "" "" "" "NSD1(NM_022455.4):c.1515T>C (p.N505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177209914T>C" "" "benign" "" "0000304577" "0" "10" "5" "176637090" "176637090" "subst" "0.00140142" "01943" "NSD1_000122" "g.176637090G>T" "" "" "" "NSD1(NM_022455.4):c.1690G>T (p.A564S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210089G>T" "" "benign" "" "0000304578" "0" "10" "5" "176637149" "176637149" "subst" "0.178261" "01943" "NSD1_000039" "g.176637149G>A" "" "" "" "NSD1(NM_022455.4):c.1749G>A (p.E583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210148G>A" "" "benign" "" "0000304579" "0" "10" "5" "176637211" "176637211" "subst" "0.00135582" "01943" "NSD1_000123" "g.176637211G>T" "" "" "" "NSD1(NM_022455.4):c.1811G>T (p.R604L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210210G>T" "" "benign" "" "0000304580" "0" "30" "5" "176637380" "176637380" "subst" "0.000431389" "01943" "NSD1_000124" "g.176637380C>T" "" "" "" "NSD1(NM_022455.4):c.1980C>T (p.N660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210379C>T" "" "likely benign" "" "0000304581" "0" "90" "5" "176637407" "176637413" "del" "0" "01943" "NSD1_000126" "g.176637407_176637413del" "" "" "" "NSD1(NM_022455.4):c.2007_2013delCGATAGA (p.F669Lfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210406_177210412del" "" "pathogenic" "" "0000304582" "0" "30" "5" "176637431" "176637431" "subst" "0.0000487682" "01943" "NSD1_000127" "g.176637431T>G" "" "" "" "NSD1(NM_022455.4):c.2031T>G (p.S677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210430T>G" "" "likely benign" "" "0000304583" "0" "90" "5" "176637537" "176637537" "dup" "0" "01943" "NSD1_000128" "g.176637537dup" "" "" "" "NSD1(NM_022455.4):c.2137dupA (p.M713Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210536dup" "" "pathogenic" "" "0000304584" "0" "10" "5" "176637569" "176637569" "subst" "0.00141351" "01943" "NSD1_000129" "g.176637569C>T" "" "" "" "NSD1(NM_022455.4):c.2169C>T (p.T723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210568C>T" "" "benign" "" "0000304585" "0" "10" "5" "176637576" "176637576" "subst" "0.201939" "01943" "NSD1_000043" "g.176637576T>C" "" "" "" "NSD1(NM_022455.4):c.2176T>C (p.S726P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210575T>C" "" "benign" "" "0000304587" "0" "90" "5" "176637592" "176637593" "del" "0" "01943" "NSD1_000131" "g.176637592_176637593del" "" "" "" "NSD1(NM_022455.4):c.2192_2193delCT (p.S731*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210591_177210592del" "" "pathogenic" "" "0000304588" "0" "90" "5" "176637786" "176637789" "del" "0" "01943" "NSD1_000132" "g.176637786_176637789del" "" "" "" "NSD1(NM_022455.4):c.2386_2389delGAAA (p.E796Ifs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210785_177210788del" "" "pathogenic" "" "0000304589" "0" "90" "5" "176638007" "176638007" "subst" "0" "01943" "NSD1_000134" "g.176638007C>G" "" "" "" "NSD1(NM_022455.4):c.2607C>G (p.Y869*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211006C>G" "" "pathogenic" "" "0000304590" "0" "90" "5" "176638168" "176638171" "del" "0" "01943" "NSD1_000135" "g.176638168_176638171del" "" "" "" "NSD1(NM_022455.4):c.2768_2771delAGGA (p.K923Sfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211167_177211170del" "" "pathogenic" "" "0000304591" "0" "90" "5" "176638259" "176638260" "ins" "0" "01943" "NSD1_000136" "g.176638259_176638260insTT" "" "" "" "NSD1(NM_022455.4):c.2859_2860insTT (p.K954Lfs*87)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211258_177211259insTT" "" "pathogenic" "" "0000304592" "0" "50" "5" "176562133" "176562133" "subst" "0" "01943" "NSD1_000114" "g.176562133G>T" "" "" "" "NSD1(NM_022455.4):c.29G>T (p.R10I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177135132G>T" "" "VUS" "" "0000304593" "0" "90" "5" "176638404" "176638405" "del" "0" "01943" "NSD1_000137" "g.176638404_176638405del" "" "" "" "NSD1(NM_022455.4):c.3004_3005delAA (p.K1002Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211403_177211404del" "" "pathogenic" "" "0000304594" "0" "90" "5" "176638467" "176638467" "subst" "0" "01943" "NSD1_000138" "g.176638467C>T" "" "" "" "NSD1(NM_022455.4):c.3067C>T (p.R1023*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211466C>T" "" "pathogenic" "" "0000304595" "0" "50" "5" "176638489" "176638489" "subst" "0.00023202" "01943" "NSD1_000139" "g.176638489T>C" "" "" "" "NSD1(NM_022455.4):c.3089T>C (p.L1030S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211488T>C" "" "VUS" "" "0000304596" "0" "30" "5" "176638490" "176638490" "subst" "0.00023203" "01943" "NSD1_000140" "g.176638490G>T" "" "" "" "NSD1(NM_022455.4):c.3090G>T (p.L1030F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211489G>T" "" "likely benign" "" "0000304597" "0" "10" "5" "176638506" "176638506" "subst" "0.0228326" "01943" "NSD1_000044" "g.176638506G>C" "" "" "" "NSD1(NM_022455.4):c.3106G>C (p.A1036P, p.(Ala1036Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211505G>C" "" "benign" "" "0000304599" "0" "90" "5" "176638591" "176638592" "del" "0" "01943" "NSD1_000144" "g.176638591_176638592del" "" "" "" "NSD1(NM_022455.4):c.3191_3192delTT (p.L1064Rfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211590_177211591del" "" "pathogenic" "" "0000304600" "0" "90" "5" "176638614" "176638614" "subst" "0" "01943" "NSD1_000145" "g.176638614C>T" "" "" "" "NSD1(NM_022455.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211613C>T" "" "pathogenic" "" "0000304601" "0" "30" "5" "176638686" "176638686" "subst" "0.000235581" "01943" "NSD1_000146" "g.176638686C>T" "" "" "" "NSD1(NM_022455.4):c.3286C>T (p.H1096Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211685C>T" "" "likely benign" "" "0000304602" "0" "10" "5" "176639105" "176639105" "subst" "0.0642875" "01943" "NSD1_000046" "g.176639105T>C" "" "" "" "NSD1(NM_022455.4):c.3705T>C (p.N1235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177212104T>C" "" "benign" "" "0000304603" "0" "30" "5" "176639122" "176639122" "subst" "0.000666114" "01943" "NSD1_000094" "g.176639122G>C" "" "" "" "NSD1(NM_022455.4):c.3722G>C (p.S1241T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177212121G>C" "" "likely benign" "" "0000304605" "0" "90" "5" "176665280" "176665280" "subst" "0" "01943" "NSD1_000149" "g.176665280C>T" "" "" "" "NSD1(NM_022455.4):c.3964C>T (p.R1322*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177238279C>T" "" "pathogenic" "" "0000304607" "0" "90" "5" "176673717" "176673717" "subst" "0" "01943" "NSD1_000025" "g.176673717C>T" "" "" "" "NSD1(NM_022455.4):c.4417C>T (p.R1473*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177246716C>T" "" "pathogenic" "" "0000304608" "0" "10" "5" "176675172" "176675172" "del" "0" "01943" "NSD1_000151" "g.176675172del" "" "" "" "NSD1(NM_022455.4):c.4498-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177248171del" "" "benign" "" "0000304609" "0" "30" "5" "176675193" "176675193" "subst" "0.00020316" "01943" "NSD1_000152" "g.176675193G>A" "" "" "" "NSD1(NM_022455.4):c.4509G>A (p.M1503I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177248192G>A" "" "likely benign" "" "0000304610" "0" "90" "5" "176675275" "176675275" "dup" "0" "01943" "NSD1_000153" "g.176675275dup" "" "" "" "NSD1(NM_022455.4):c.4591dupA (p.M1531Nfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177248274dup" "" "pathogenic" "" "0000304611" "0" "90" "5" "176678775" "176678775" "subst" "0" "01943" "NSD1_000154" "g.176678775C>G" "" "" "" "NSD1(NM_022455.4):c.4686C>G (p.C1562W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177251774C>G" "" "pathogenic" "" "0000304612" "0" "90" "5" "176678786" "176678786" "del" "0" "01943" "NSD1_000155" "g.176678786del" "" "" "" "NSD1(NM_022455.4):c.4697delT (p.F1566Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177251785del" "" "pathogenic" "" "0000304613" "0" "30" "5" "176678849" "176678849" "subst" "0" "01943" "NSD1_000156" "g.176678849G>A" "" "" "" "NSD1(NM_022455.4):c.4760G>A (p.R1587H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177251848G>A" "" "likely benign" "" "0000304614" "0" "10" "5" "176678873" "176678873" "subst" "0.0000487393" "01943" "NSD1_000157" "g.176678873G>A" "" "" "" "NSD1(NM_022455.4):c.4765+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177251872G>A" "" "benign" "" "0000304615" "0" "10" "5" "176562584" "176562584" "subst" "0.00195001" "01943" "NSD1_000116" "g.176562584C>T" "" "" "" "NSD1(NM_022455.4):c.480C>T (p.D160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177135583C>T" "" "benign" "" "0000304616" "0" "90" "5" "176684147" "176684147" "del" "0" "01943" "NSD1_000158" "g.176684147del" "" "" "" "NSD1(NM_022455.4):c.4961delC (p.S1654Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177257146del" "" "pathogenic" "" "0000304618" "0" "90" "5" "176694580" "176694580" "subst" "0" "01943" "NSD1_000160" "g.176694580T>C" "" "" "" "NSD1(NM_022455.4):c.5164T>C (p.C1722R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177267579T>C" "" "pathogenic" "" "0000304619" "0" "90" "5" "176696709" "176696709" "subst" "0" "01943" "NSD1_000161" "g.176696709T>G" "" "" "" "NSD1(NM_022455.4):c.5410T>G (p.Y1804D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177269708T>G" "" "pathogenic" "" "0000304620" "0" "10" "5" "176707544" "176707544" "subst" "0.0469894" "01943" "NSD1_000048" "g.176707544G>A" "" "" "" "NSD1(NM_022455.4):c.5623-22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177280543G>A" "" "benign" "" "0000304621" "0" "90" "5" "176707659" "176707659" "subst" "0" "01943" "NSD1_000162" "g.176707659G>A" "" "" "" "NSD1(NM_022455.4):c.5716G>A (p.G1906R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177280658G>A" "" "pathogenic" "" "0000304622" "0" "90" "5" "176707797" "176707797" "subst" "0" "01943" "NSD1_000103" "g.176707797C>T" "" "" "" "NSD1(NM_022455.4):c.5854C>T (p.R1952W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177280796C>T" "" "pathogenic" "" "0000304623" "0" "90" "5" "176710798" "176710798" "subst" "0" "01943" "NSD1_000165" "g.176710798T>C" "" "" "" "NSD1(NM_022455.4):c.6020T>C (p.I2007T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177283797T>C" "" "pathogenic" "" "0000304624" "0" "90" "5" "176710827" "176710827" "subst" "0" "01943" "NSD1_000166" "g.176710827C>T" "" "" "" "NSD1(NM_022455.4):c.6049C>T (p.R2017W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177283826C>T" "" "pathogenic" "" "0000304625" "0" "90" "5" "176710885" "176710885" "subst" "0" "01943" "NSD1_000167" "g.176710885G>T" "" "" "" "NSD1(NM_022455.4):c.6107G>T (p.G2036V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177283884G>T" "" "pathogenic" "" "0000304626" "0" "50" "5" "176715806" "176715806" "subst" "0" "01943" "NSD1_000168" "g.176715806G>A" "" "" "" "NSD1(NM_022455.4):c.6152-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177288805G>A" "" "VUS" "" "0000304627" "0" "50" "5" "176715846" "176715846" "subst" "0" "01943" "NSD1_000170" "g.176715846C>G" "" "" "" "NSD1(NM_022455.4):c.6178C>G (p.L2060V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177288845C>G" "" "VUS" "" "0000304628" "0" "50" "5" "176718976" "176718976" "subst" "0" "01943" "NSD1_000171" "g.176718976G>C" "" "" "" "NSD1(NM_022455.4):c.6280G>C (p.E2094Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177291975G>C" "" "VUS" "" "0000304629" "0" "90" "5" "176719006" "176719006" "subst" "0" "01943" "NSD1_000172" "g.176719006C>T" "" "" "" "NSD1(NM_022455.4):c.6310C>T (p.Q2104*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177292005C>T" "" "pathogenic" "" "0000304630" "0" "90" "5" "176719040" "176719040" "dup" "0" "01943" "NSD1_000173" "g.176719040dup" "" "" "" "NSD1(NM_022455.4):c.6344dupA (p.E2116Gfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177292039dup" "" "pathogenic" "" "0000304631" "0" "30" "5" "176719140" "176719140" "subst" "0.00027618" "01943" "NSD1_000104" "g.176719140T>C" "" "" "" "NSD1(NM_022455.4):c.6444T>C (p.N2148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177292139T>C" "" "likely benign" "" "0000304632" "0" "90" "5" "176719150" "176719150" "subst" "0" "01943" "NSD1_000174" "g.176719150C>T" "" "" "" "NSD1(NM_022455.4):c.6454C>T (p.R2152*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177292149C>T" "" "pathogenic" "" "0000304633" "0" "30" "5" "176720891" "176720891" "subst" "0.0000081215" "01943" "NSD1_000178" "g.176720891C>T" "" "" "" "NSD1(NM_022455.4):c.6522C>T (p.F2174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177293890C>T" "" "likely benign" "" "0000304634" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "01943" "NSD1_000050" "g.176721119G>A" "" "" "" "NSD1(NM_022455.4):c.6750G>A (p.M2250I, p.(Met2250Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000304635" "0" "10" "5" "176721151" "176721151" "subst" "0.046971" "01943" "NSD1_000051" "g.176721151T>C" "" "" "" "NSD1(NM_022455.4):c.6782T>C (p.M2261T, p.(Met2261Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294150T>C" "" "benign" "" "0000304637" "0" "30" "5" "176721256" "176721256" "subst" "0.0000162917" "01943" "NSD1_000179" "g.176721256T>C" "" "" "" "NSD1(NM_022455.4):c.6887T>C (p.V2296A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294255T>C" "" "likely benign" "" "0000304638" "0" "10" "5" "176721272" "176721272" "subst" "0.190569" "01943" "NSD1_000053" "g.176721272G>C" "" "" "" "NSD1(NM_022455.4):c.6903G>C (p.G2301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294271G>C" "" "benign" "" "0000304639" "0" "90" "5" "176721942" "176721942" "del" "0" "01943" "NSD1_000181" "g.176721942del" "" "" "" "NSD1(NM_022455.4):c.7573delG (p.D2525Tfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294941del" "" "pathogenic" "" "0000304640" "0" "10" "5" "176722005" "176722005" "subst" "0.0240887" "01943" "NSD1_000074" "g.176722005G>A" "" "" "" "NSD1(NM_022455.4):c.7636G>A (p.A2546T, p.(Ala2546Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295004G>A" "" "benign" "" "0000304641" "0" "30" "5" "176722219" "176722219" "subst" "0.00140594" "01943" "NSD1_000075" "g.176722219T>C" "" "" "" "NSD1(NM_022455.4):c.7850T>C (p.L2617S, p.(Leu2617Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295218T>C" "" "likely benign" "" "0000330760" "0" "30" "5" "176562402" "176562402" "subst" "0" "01804" "NSD1_000115" "g.176562402C>A" "" "" "" "NSD1(NM_022455.4):c.298C>A (p.(Pro100Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177135401C>A" "" "likely benign" "" "0000330761" "0" "30" "5" "176562711" "176562711" "subst" "0.00000406058" "01804" "NSD1_000117" "g.176562711G>A" "" "" "" "NSD1(NM_022455.4):c.607G>A (p.(Val203Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177135710G>A" "" "likely benign" "" "0000330762" "0" "50" "5" "176618978" "176618978" "subst" "0" "01804" "NSD1_000118" "g.176618978A>G" "" "" "" "NSD1(NM_022455.4):c.1021A>G (p.(Ile341Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177191977A>G" "" "VUS" "" "0000330763" "0" "50" "5" "176637865" "176637865" "subst" "0.0000284483" "01804" "NSD1_000133" "g.176637865C>G" "" "" "" "NSD1(NM_022455.4):c.2465C>G (p.(Ser822Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210864C>G" "" "VUS" "" "0000330765" "0" "50" "5" "176707663" "176707663" "subst" "0" "01804" "NSD1_000163" "g.176707663T>C" "" "" "" "NSD1(NM_022455.4):c.5720T>C (p.(Ile1907Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177280662T>C" "" "VUS" "" "0000330766" "0" "50" "5" "176720825" "176720825" "subst" "0.0000488305" "01804" "NSD1_000176" "g.176720825G>T" "" "" "" "NSD1(NM_022455.4):c.6464-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177293824G>T" "" "VUS" "" "0000330767" "0" "50" "5" "176720828" "176720828" "subst" "0.0000488202" "01804" "NSD1_000177" "g.176720828T>C" "" "" "" "NSD1(NM_022455.4):c.6464-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177293827T>C" "" "VUS" "" "0000330768" "0" "50" "5" "176721736" "176721736" "subst" "0.0000609518" "01804" "NSD1_000180" "g.176721736T>C" "" "" "" "NSD1(NM_022455.4):c.7367T>C (p.(Met2456Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294735T>C" "" "VUS" "" "0000330769" "0" "30" "5" "176722219" "176722219" "subst" "0.00140594" "01804" "NSD1_000075" "g.176722219T>C" "" "" "" "NSD1(NM_022455.4):c.7850T>C (p.L2617S, p.(Leu2617Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295218T>C" "" "likely benign" "" "0000337362" "0" "30" "5" "176718949" "176718949" "subst" "0" "02327" "NSD1_000189" "g.176718949C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177291948C>G" "" "likely benign" "" "0000339547" "0" "10" "5" "176636882" "176636882" "subst" "0.291373" "02327" "NSD1_000069" "g.176636882C>T" "" "" "" "NSD1(NM_022455.4):c.1482C>T (p.C494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177209881C>T" "" "benign" "" "0000339548" "0" "10" "5" "176637956" "176637956" "subst" "0" "02327" "NSD1_000183" "g.176637956A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210955A>G" "" "benign" "" "0000339549" "0" "10" "5" "176639105" "176639105" "subst" "0.0642875" "02327" "NSD1_000046" "g.176639105T>C" "" "" "" "NSD1(NM_022455.4):c.3705T>C (p.N1235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177212104T>C" "" "benign" "" "0000339550" "0" "10" "5" "176721198" "176721198" "subst" "0.820084" "02327" "NSD1_000052" "g.176721198T>C" "" "" "" "NSD1(NM_022455.4):c.6829T>C (p.L2277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294197T>C" "" "benign" "" "0000339551" "0" "10" "5" "176721272" "176721272" "subst" "0.190569" "02327" "NSD1_000053" "g.176721272G>C" "" "" "" "NSD1(NM_022455.4):c.6903G>C (p.G2301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294271G>C" "" "benign" "" "0000339552" "0" "30" "5" "176722277" "176722277" "subst" "0.000756842" "02327" "NSD1_000192" "g.176722277C>T" "" "" "" "NSD1(NM_022455.4):c.7908C>T (p.L2636=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295276C>T" "" "likely benign" "" "0000341095" "0" "10" "5" "176638506" "176638506" "subst" "0.0228326" "02327" "NSD1_000044" "g.176638506G>C" "" "" "" "NSD1(NM_022455.4):c.3106G>C (p.A1036P, p.(Ala1036Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211505G>C" "" "benign" "" "0000341303" "0" "10" "5" "176722005" "176722005" "subst" "0.0240887" "02327" "NSD1_000074" "g.176722005G>A" "" "" "" "NSD1(NM_022455.4):c.7636G>A (p.A2546T, p.(Ala2546Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295004G>A" "" "benign" "" "0000341558" "0" "10" "5" "176637471" "176637471" "subst" "0.0207123" "02327" "NSD1_000042" "g.176637471G>A" "" "" "" "NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210470G>A" "" "benign" "" "0000344619" "0" "90" "5" "176700735" "176700735" "subst" "0" "02327" "NSD1_000188" "g.176700735C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177273734C>T" "" "pathogenic" "" "0000347039" "0" "30" "5" "176722077" "176722077" "subst" "0" "02327" "NSD1_000191" "g.176722077C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295076C>T" "" "likely benign" "" "0000347054" "0" "50" "5" "176722362" "176722362" "subst" "0.00000406177" "02327" "NSD1_000195" "g.176722362C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295361C>T" "" "VUS" "" "0000347055" "0" "50" "5" "176722410" "176722410" "subst" "0" "02327" "NSD1_000196" "g.176722410C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295409C>T" "" "VUS" "" "0000347778" "0" "10" "5" "176721119" "176721119" "subst" "0.0470062" "02327" "NSD1_000050" "g.176721119G>A" "" "" "" "NSD1(NM_022455.4):c.6750G>A (p.M2250I, p.(Met2250Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294118G>A" "" "benign" "" "0000347779" "0" "10" "5" "176721151" "176721151" "subst" "0.046971" "02327" "NSD1_000051" "g.176721151T>C" "" "" "" "NSD1(NM_022455.4):c.6782T>C (p.M2261T, p.(Met2261Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177294150T>C" "" "benign" "" "0000348833" "0" "30" "5" "176720907" "176720907" "subst" "0.0000162426" "02327" "NSD1_000190" "g.176720907A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177293906A>G" "" "likely benign" "" "0000348885" "0" "30" "5" "176722321" "176722321" "subst" "0" "02327" "NSD1_000193" "g.176722321C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295320C>T" "" "likely benign" "" "0000348887" "0" "50" "5" "176722360" "176722360" "subst" "0" "02327" "NSD1_000194" "g.176722360C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177295359C>T" "" "VUS" "" "0000349151" "0" "10" "5" "176637576" "176637576" "subst" "0.201939" "02327" "NSD1_000043" "g.176637576T>C" "" "" "" "NSD1(NM_022455.4):c.2176T>C (p.S726P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177210575T>C" "" "benign" "" "0000350248" "0" "30" "5" "176638818" "176638818" "subst" "0" "02327" "NSD1_000186" "g.176638818G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211817G>C" "" "likely benign" "" "0000350609" "0" "10" "5" "176638047" "176638047" "subst" "0" "02327" "NSD1_000184" "g.176638047A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177211046A>C" "" "benign" "" "0000350980" "0" "50" "5" "176715806" "176715806" "subst" "0" "02327" "NSD1_000168" "g.176715806G>A" "" "" "" "NSD1(NM_022455.4):c.6152-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177288805G>A" "" "VUS" "" "0000356913" "0" "70" "5" "176719094" "176719094" "subst" "0" "01807" "NSD1_000183" "g.176719094G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.177292093G>C" "" "likely pathogenic" "" "0000525256" "0" "50" "5" "176562347" "176562347" "subst" "0" "01804" "NSD1_000198" "g.176562347G>C" "" "" "" "NSD1(NM_022455.4):c.243G>C (p.(Met81Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177135346G>C" "" "VUS" "" "0000525257" "0" "30" "5" "176562499" "176562499" "subst" "0.0000852771" "01804" "NSD1_000199" "g.176562499G>C" "" "" "" "NSD1(NM_022455.4):c.395G>C (p.(Cys132Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177135498G>C" "" "likely benign" "" "0000525260" "0" "50" "5" "176562861" "176562861" "subst" "0.0000122611" "01943" "NSD1_000201" "g.176562861C>G" "" "" "" "NSD1(NM_022455.4):c.757C>G (p.L253V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177135860C>G" "" "VUS" "" "0000525261" "0" "50" "5" "176562990" "176562990" "subst" "0" "02325" "NSD1_000202" "g.176562990C>A" "" "" "" "NSD1(NM_022455.4):c.886C>A (p.P296T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177135989C>A" "" "VUS" "" "0000525263" "0" "90" "5" "176637201" "176637201" "subst" "0" "01943" "NSD1_000204" "g.176637201A>T" "" "" "" "NSD1(NM_022455.4):c.1801A>T (p.K601*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177210200A>T" "" "pathogenic" "" "0000525265" "0" "10" "5" "176637240" "176637240" "subst" "0.17797" "01943" "NSD1_000041" "g.176637240G>T" "" "" "" "NSD1(NM_022455.4):c.1840G>T (p.V614L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177210239G>T" "" "benign" "" "0000525266" "0" "10" "5" "176637240" "176637240" "subst" "0.17797" "02325" "NSD1_000041" "g.176637240G>T" "" "" "" "NSD1(NM_022455.4):c.1840G>T (p.V614L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177210239G>T" "" "benign" "" "0000525267" "0" "10" "5" "176637471" "176637471" "subst" "0.0207123" "01943" "NSD1_000042" "g.176637471G>A" "" "" "" "NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177210470G>A" "" "benign" "" "0000525268" "0" "30" "5" "176637471" "176637471" "subst" "0.0207123" "01804" "NSD1_000042" "g.176637471G>A" "" "" "" "NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177210470G>A" "" "likely benign" "" "0000525269" "0" "10" "5" "176637471" "176637471" "subst" "0.0207123" "02326" "NSD1_000042" "g.176637471G>A" "" "" "" "NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177210470G>A" "" "benign" "" "0000525271" "0" "30" "5" "176637763" "176637763" "subst" "0" "01804" "NSD1_000206" "g.176637763G>A" "" "" "" "NSD1(NM_022455.4):c.2363G>A (p.(Arg788Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177210762G>A" "" "likely benign" "" "0000525272" "0" "30" "5" "176638235" "176638235" "subst" "0.00208017" "01943" "NSD1_000085" "g.176638235T>C" "" "" "" "NSD1(NM_022455.4):c.2835T>C (p.S945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211234T>C" "" "likely benign" "" "0000525273" "0" "30" "5" "176638261" "176638261" "subst" "0.000223725" "01804" "NSD1_000207" "g.176638261A>C" "" "" "" "NSD1(NM_022455.4):c.2861A>C (p.(Lys954Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211260A>C" "" "likely benign" "" "0000525274" "0" "30" "5" "176638314" "176638314" "subst" "0.0000406309" "01804" "NSD1_000208" "g.176638314A>G" "" "" "" "NSD1(NM_022455.4):c.2914A>G (p.(Thr972Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211313A>G" "" "likely benign" "" "0000525275" "0" "30" "5" "176638506" "176638506" "subst" "0.0228326" "01804" "NSD1_000044" "g.176638506G>C" "" "" "" "NSD1(NM_022455.4):c.3106G>C (p.A1036P, p.(Ala1036Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211505G>C" "" "likely benign" "" "0000525276" "0" "90" "5" "176638531" "176638532" "ins" "0" "01943" "NSD1_000209" "g.176638531_176638532insGA" "" "" "" "NSD1(NM_022455.4):c.3131_3132insGA (p.N1044Kfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211530_177211531insGA" "" "pathogenic" "" "0000525277" "0" "30" "5" "176638615" "176638615" "subst" "0.000207753" "01804" "NSD1_000210" "g.176638615G>A" "" "" "" "NSD1(NM_022455.4):c.3215G>A (p.R1072Q, p.(Arg1072Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211614G>A" "" "likely benign" "" "0000525278" "0" "50" "5" "176638884" "176638884" "subst" "0" "02325" "NSD1_000211" "g.176638884C>A" "" "" "" "NSD1(NM_022455.4):c.3484C>A (p.R1162S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211883C>A" "" "VUS" "" "0000525279" "0" "10" "5" "176639217" "176639217" "dup" "0" "01943" "NSD1_000212" "g.176639217dup" "" "" "" "NSD1(NM_022455.4):c.3796+21dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177212216dup" "" "benign" "" "0000525280" "0" "30" "5" "176671188" "176671188" "subst" "0.0000162917" "01943" "NSD1_000213" "g.176671188A>G" "" "" "" "NSD1(NM_022455.4):c.4303-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177244187A>G" "" "likely benign" "" "0000525281" "0" "90" "5" "176671251" "176671251" "dup" "0" "01943" "NSD1_000214" "g.176671251dup" "" "" "" "NSD1(NM_022455.4):c.4358dupA (p.Y1453*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177244250dup" "" "pathogenic" "" "0000525282" "0" "30" "5" "176675204" "176675204" "subst" "0.000548495" "01943" "NSD1_000215" "g.176675204C>T" "" "" "" "NSD1(NM_022455.4):c.4520C>T (p.T1507M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177248203C>T" "" "likely benign" "" "0000525283" "0" "10" "5" "176675248" "176675248" "subst" "0.0000243869" "01943" "NSD1_000216" "g.176675248G>T" "" "" "" "NSD1(NM_022455.4):c.4564G>T (p.D1522Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177248247G>T" "" "benign" "" "0000525284" "0" "30" "5" "176675331" "176675331" "subst" "0" "01943" "NSD1_000217" "g.176675331G>A" "" "" "" "NSD1(NM_022455.4):c.4641+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177248330G>A" "" "likely benign" "" "0000525285" "0" "30" "5" "176678861" "176678861" "subst" "0" "01943" "NSD1_000218" "g.176678861T>C" "" "" "" "NSD1(NM_022455.4):c.4765+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177251860T>C" "" "likely benign" "" "0000525286" "0" "50" "5" "176683945" "176683945" "subst" "0" "01943" "NSD1_000219" "g.176683945T>G" "" "" "" "NSD1(NM_022455.4):c.4766-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177256944T>G" "" "VUS" "" "0000525288" "0" "10" "5" "176694492" "176694493" "dup" "0" "01943" "NSD1_000221" "g.176694492_176694493dup" "" "" "" "NSD1(NM_022455.4):c.5147-71_5147-70dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177267491_177267492dup" "" "benign" "" "0000525289" "0" "90" "5" "176694712" "176694712" "subst" "0" "01943" "NSD1_000064" "g.176694712C>T" "" "" "" "NSD1(NM_022455.4):c.5296C>T (p.R1766*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177267711C>T" "" "pathogenic" "" "0000525290" "0" "70" "5" "176707684" "176707684" "subst" "0" "02327" "NSD1_000164" "g.176707684G>T" "" "" "" "NSD1(NM_022455.4):c.5741G>T (p.R1914L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177280683G>T" "" "likely pathogenic" "" "0000525292" "0" "50" "5" "176709561" "176709561" "subst" "0" "01943" "NSD1_000223" "g.176709561C>G" "" "" "" "NSD1(NM_022455.4):c.5988C>G (p.F1996L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177282560C>G" "" "VUS" "" "0000525293" "0" "30" "5" "176718947" "176718947" "subst" "0.0000532089" "01804" "NSD1_000197" "g.176718947A>T" "" "" "" "NSD1(NM_022455.4):c.6259-8A>T (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177291946A>T" "" "likely benign" "" "0000525295" "0" "90" "5" "176719045" "176719045" "subst" "0" "01943" "NSD1_000088" "g.176719045C>T" "" "" "" "NSD1(NM_022455.4):c.6349C>T (p.R2117*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177292044C>T" "" "pathogenic" "" "0000525296" "0" "70" "5" "176719057" "176719057" "subst" "0" "02327" "NSD1_000225" "g.176719057T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177292056T>C" "" "likely pathogenic" "" "0000525297" "0" "30" "5" "176719137" "176719137" "subst" "0.00000406161" "01943" "NSD1_000226" "g.176719137C>A" "" "" "" "NSD1(NM_022455.4):c.6441C>A (p.L2147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177292136C>A" "" "likely benign" "" "0000525298" "0" "30" "5" "176721119" "176721119" "subst" "0.0470062" "01804" "NSD1_000050" "g.176721119G>A" "" "" "" "NSD1(NM_022455.4):c.6750G>A (p.M2250I, p.(Met2250Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177294118G>A" "" "likely benign" "" "0000525299" "0" "30" "5" "176721151" "176721151" "subst" "0.046971" "01804" "NSD1_000051" "g.176721151T>C" "" "" "" "NSD1(NM_022455.4):c.6782T>C (p.M2261T, p.(Met2261Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177294150T>C" "" "likely benign" "" "0000525300" "0" "30" "5" "176721770" "176721770" "subst" "0.00000813908" "01943" "NSD1_000227" "g.176721770G>A" "" "" "" "NSD1(NM_022455.4):c.7401G>A (p.E2467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177294769G>A" "" "likely benign" "" "0000525301" "0" "70" "5" "176721851" "176721851" "del" "0" "02327" "NSD1_000228" "g.176721851del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177294850del" "" "likely pathogenic" "" "0000525302" "0" "30" "5" "176721945" "176721945" "subst" "0.000170715" "02325" "NSD1_000229" "g.176721945C>T" "" "" "" "NSD1(NM_022455.4):c.7576C>T (p.P2526S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177294944C>T" "" "likely benign" "" "0000525303" "0" "30" "5" "176722005" "176722005" "subst" "0.0240887" "01804" "NSD1_000074" "g.176722005G>A" "" "" "" "NSD1(NM_022455.4):c.7636G>A (p.A2546T, p.(Ala2546Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177295004G>A" "" "likely benign" "" "0000525305" "0" "30" "5" "176729749" "176729749" "subst" "0" "01804" "NSD1_000231" "g.176729749T>C" "" "" "" "RAB24(NM_001031677.2):c.265+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177302748T>C" "" "likely benign" "" "0000604252" "0" "50" "5" "176675254" "176675254" "subst" "0.000024395" "01164" "NSD1_000234" "g.176675254G>A" "" "" "" "" "ACMG: PM2" "Germline" "" "rs772281428" "0" "" "" "g.177248253G>A" "" "VUS" "ACMG" "0000604274" "0" "90" "5" "176618964" "176618964" "subst" "0" "01401" "NSD1_000232" "g.176618964G>A" "" "" "" "hg18 g.176551570G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177191963G>A" "" "pathogenic" "" "0000604275" "0" "90" "5" "176637987" "176637987" "subst" "0" "01401" "NSD1_000233" "g.176637987G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177210986G>T" "" "pathogenic" "" "0000604574" "0" "90" "5" "176638354" "176638355" "del" "0" "01401" "NSD1_000236" "g.176638354_176638355del" "4/213 patients" "" "" "" "" "De novo" "" "rs587784092" "0" "" "" "g.177211353_177211354del" "" "likely pathogenic (dominant)" "" "0000604575" "0" "90" "5" "176569533" "176569533" "del" "0" "01401" "NSD1_000235" "g.176569533del" "" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.177209926del" "" "likely pathogenic (dominant)" "" "0000604579" "0" "90" "5" "176666781" "176666784" "del" "0" "01401" "NSD1_000237" "g.176666781_176666784del" "" "" "" "" "" "De novo" "" "rs794727930" "0" "" "" "g.177239780_177239783del" "{CV-RCV:000180364}" "pathogenic (dominant)" "" "0000609637" "0" "50" "5" "176560942" "176560942" "del" "0" "02327" "NSD1_000238" "g.176560942del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177133941del" "" "VUS" "" "0000609638" "0" "30" "5" "176638146" "176638146" "subst" "0.00000406141" "01804" "NSD1_000240" "g.176638146G>A" "" "" "" "NSD1(NM_022455.4):c.2746G>A (p.(Asp916Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211145G>A" "" "likely benign" "" "0000609639" "0" "30" "5" "176638730" "176638730" "subst" "0.00120626" "01943" "NSD1_000241" "g.176638730C>T" "" "" "" "NSD1(NM_022455.4):c.3330C>T (p.F1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211729C>T" "" "likely benign" "" "0000609640" "0" "50" "5" "176696800" "176696800" "subst" "0" "01804" "NSD1_000242" "g.176696800A>T" "" "" "" "NSD1(NM_022455.4):c.5501A>T (p.(Tyr1834Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177269799A>T" "" "VUS" "" "0000609641" "0" "30" "5" "176707724" "176707724" "subst" "0.000800143" "01943" "NSD1_000243" "g.176707724C>G" "" "" "" "NSD1(NM_022455.4):c.5781C>G (p.A1927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177280723C>G" "" "likely benign" "" "0000609642" "0" "90" "5" "176710866" "176710867" "del" "0" "01943" "NSD1_000244" "g.176710866_176710867del" "" "" "" "NSD1(NM_022455.4):c.6088_6089delCA (p.Q2030Efs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177283865_177283866del" "" "pathogenic" "" "0000609643" "0" "90" "5" "176719139" "176719139" "del" "0" "02327" "NSD1_000245" "g.176719139del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177292138del" "" "pathogenic" "" "0000609644" "0" "30" "5" "176721757" "176721757" "subst" "0" "01943" "NSD1_000246" "g.176721757C>T" "" "" "" "NSD1(NM_022455.4):c.7388C>T (p.P2463L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177294756C>T" "" "likely benign" "" "0000621535" "0" "50" "5" "176562448" "176562448" "subst" "0" "02325" "NSD1_000239" "g.176562448C>G" "" "" "" "NSD1(NM_022455.4):c.344C>G (p.S115C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177135447C>G" "" "VUS" "" "0000621536" "0" "30" "5" "176684158" "176684158" "subst" "0.0000406994" "01943" "NSD1_000220" "g.176684158G>A" "" "" "" "NSD1(NM_022455.4):c.4966+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177257157G>A" "" "likely benign" "" "0000632003" "0" "90" "5" "176636688" "176636688" "subst" "0" "01401" "NSD1_000247" "g.176636688C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177209687C>T" "{CV-RCV:000296990.1}" "pathogenic (dominant)" "" "0000632008" "0" "90" "5" "176638407" "176638407" "subst" "0" "01401" "NSD1_000248" "g.176638407A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177211406A>T" "" "pathogenic (dominant)" "" "0000632013" "0" "90" "5" "176638428" "176638428" "subst" "0" "01401" "NSD1_000249" "g.176638428A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177211427A>T" "" "pathogenic (dominant)" "" "0000632020" "0" "90" "5" "176638605" "176638605" "subst" "0" "01401" "NSD1_000250" "g.176638605C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177211604C>T" "" "pathogenic (dominant)" "" "0000632022" "0" "90" "5" "176638794" "176638794" "subst" "0" "01401" "NSD1_000251" "g.176638794G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177211793G>T" "" "pathogenic (dominant)" "" "0000632023" "0" "90" "5" "176662935" "176662935" "subst" "0" "01401" "NSD1_000252" "g.176662935C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177235934C>T" "" "pathogenic (dominant)" "" "0000647198" "0" "50" "5" "176710785" "176710785" "subst" "0" "01164" "NSD1_000259" "g.176710785T>G" "" "" "" "" "ACMG: PM2,PP3; 9 month old male, macrocephaly (>P97, percentile cutting growth), muscular hypotonia, motor. developmental delay, hydrocephalus int. (e vacuo), multiple hemangiomas" "Germline" "" "" "0" "" "" "g.177283784T>G" "" "VUS" "ACMG" "0000647218" "0" "90" "5" "176673772" "176673772" "subst" "0" "01401" "NSD1_000253" "g.176673772C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177246771C>A" "" "pathogenic (dominant)" "" "0000647219" "0" "90" "5" "176678749" "176678749" "subst" "0" "01401" "NSD1_000254" "g.176678749G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177251748G>T" "" "pathogenic (dominant)" "" "0000647220" "0" "90" "5" "176683978" "176683978" "subst" "0" "01401" "NSD1_000255" "g.176683978C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177256977C>T" "" "pathogenic (dominant)" "" "0000647221" "0" "90" "5" "176683996" "176683996" "subst" "0" "01401" "NSD1_000256" "g.176683996A>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177256995A>T" "" "pathogenic (dominant)" "" "0000647222" "0" "90" "5" "176684055" "176684055" "subst" "0" "01401" "NSD1_000257" "g.176684055C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177257054C>A" "" "pathogenic (dominant)" "" "0000647223" "0" "90" "5" "176687164" "176687164" "subst" "0" "01401" "NSD1_000258" "g.176687164C>G" "" "" "" "" "" "De novo" "" "rs587784138" "0" "" "" "g.177260163C>G" "{CV-RCV:000146864.1}" "pathogenic (dominant)" "" "0000651667" "1" "30" "5" "176637471" "176637471" "subst" "0.0207123" "03575" "NSD1_000042" "g.176637471G>A" "131/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "131 heterozygous; {DB:CLININrs28932177}" "Germline" "" "rs28932177" "0" "" "" "g.177210470G>A" "" "likely benign" "" "0000651668" "1" "90" "5" "176637676" "176637676" "subst" "0" "03575" "NSD1_000260" "g.176637676C>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784084}" "Germline" "" "rs587784084" "0" "" "" "g.177210675C>G" "" "pathogenic" "" "0000651669" "1" "90" "5" "176665373" "176665373" "subst" "0" "03575" "NSD1_000261" "g.176665373G>T" "2/2759 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587784109}" "Germline" "" "rs587784109" "0" "" "" "g.177238372G>T" "" "pathogenic" "" "0000651670" "1" "90" "5" "176678842" "176678842" "subst" "0" "03575" "NSD1_000262" "g.176678842G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587784126}" "Germline" "" "rs587784126" "0" "" "" "g.177251841G>T" "" "pathogenic" "" "0000651671" "1" "90" "5" "176684093" "176684093" "subst" "0" "03575" "NSD1_000263" "g.176684093C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784129}" "Germline" "" "rs587784129" "0" "" "" "g.177257092C>T" "" "pathogenic" "" "0000651672" "1" "90" "5" "176687164" "176687164" "subst" "0" "03575" "NSD1_000258" "g.176687164C>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784138}" "Germline" "" "rs587784138" "0" "" "" "g.177260163C>G" "" "pathogenic" "" "0000651674" "1" "90" "5" "176700729" "176700729" "subst" "0" "03575" "NSD1_000264" "g.176700729C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784151}" "Germline" "" "rs587784151" "0" "" "" "g.177273728C>T" "" "pathogenic" "" "0000651676" "1" "90" "5" "176710827" "176710827" "subst" "0" "03575" "NSD1_000166" "g.176710827C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587784176}" "Germline" "" "rs587784176" "0" "" "" "g.177283826C>T" "" "pathogenic" "" "0000651677" "1" "30" "5" "176722005" "176722005" "subst" "0.0240887" "03575" "NSD1_000074" "g.176722005G>A" "266/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "266 heterozygous; {DB:CLININrs78247455}" "Germline" "" "rs78247455" "0" "" "" "g.177295004G>A" "" "likely benign" "" "0000653170" "1" "30" "5" "176637739" "176637739" "subst" "0.00123913" "03575" "NSD1_000205" "g.176637739C>T" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs201327209}" "Germline" "" "rs201327209" "0" "" "" "g.177210738C>T" "" "likely benign" "" "0000653420" "0" "70" "5" "176638930" "176638931" "ins" "0" "01164" "NSD1_000265" "g.176638930_176638931insA" "" "" "" "" "ACMG: PVS1,PM2; clinically typical Sotos syndrome" "Germline" "" "" "0" "" "" "g.177211929_177211930insA" "" "likely pathogenic" "ACMG" "0000655353" "0" "30" "5" "176638615" "176638615" "subst" "0.000207753" "01943" "NSD1_000210" "g.176638615G>A" "" "" "" "NSD1(NM_022455.4):c.3215G>A (p.R1072Q, p.(Arg1072Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177211614G>A" "" "likely benign" "" "0000655354" "0" "30" "5" "176722277" "176722277" "subst" "0.000756842" "01804" "NSD1_000192" "g.176722277C>T" "" "" "" "NSD1(NM_022455.4):c.7908C>T (p.L2636=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177295276C>T" "" "likely benign" "" "0000659784" "0" "70" "5" "176638818" "176638819" "del" "0" "01164" "NSD1_000266" "g.176638818_176638819del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.177211817_177211818del" "" "likely pathogenic" "ACMG" "0000660440" "0" "70" "5" "176718988" "176718988" "subst" "0" "01164" "NSD1_000267" "g.176718988A>T" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.177291987A>T" "" "likely pathogenic" "ACMG" "0000663700" "0" "50" "5" "176696609" "176696609" "subst" "0" "01164" "NSD1_000268" "g.176696609G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177269608G>C" "" "VUS" "" "0000667058" "0" "50" "5" "176638294" "176638294" "subst" "0" "01401" "NSD1_000272" "g.176638294C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177211293C>G" "" "VUS" "" "0000667059" "0" "90" "5" "176665388" "176665388" "subst" "0" "01401" "NSD1_000271" "g.176665388C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177238387C>T" "" "likely pathogenic (dominant)" "" "0000667060" "0" "50" "5" "176719012" "176719012" "subst" "0" "01401" "NSD1_000269" "g.176719012A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.177292011A>T" "" "VUS" "" "0000667061" "0" "50" "5" "176720922" "176720922" "subst" "0" "01401" "NSD1_000270" "g.176720922C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177293921C>T" "" "pathogenic (dominant)" "" "0000667199" "0" "90" "5" "176678761" "176678761" "subst" "0" "01401" "NSD1_000273" "g.176678761T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177251760T>C" "" "pathogenic (dominant)" "" "0000667200" "0" "70" "5" "176683972" "176683972" "subst" "0" "01401" "NSD1_000274" "g.176683972T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177256971T>G" "" "pathogenic" "" "0000667253" "0" "50" "5" "176684018" "176684018" "subst" "0" "01401" "NSD1_000275" "g.176684018G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177257017G>A" "" "VUS" "" "0000667338" "0" "70" "5" "176638744" "176638744" "del" "0" "01401" "NSD1_000276" "g.176638744del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177211743del" "" "VUS" "" "0000667349" "0" "70" "5" "176696669" "176696684" "del" "0" "01401" "NSD1_000277" "g.176696669_176696684del" "" "" "coviello" "" "" "De novo" "" "" "0" "" "" "g.177269668_177269683del" "" "pathogenic (dominant)" "" "0000667360" "0" "70" "5" "176684018" "176684018" "subst" "0" "01401" "NSD1_000275" "g.176684018G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177257017G>A" "" "pathogenic" "" "0000667361" "0" "70" "5" "176684045" "176684045" "subst" "0" "01401" "NSD1_000278" "g.176684045T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177257044T>A" "" "pathogenic (dominant)" "" "0000667362" "0" "70" "5" "176687005" "176687005" "subst" "0" "01401" "NSD1_000297" "g.176687005G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177260004G>T" "" "VUS" "" "0000667363" "0" "70" "5" "176687013" "176687013" "subst" "0" "01401" "NSD1_000296" "g.176687013T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177260012T>C" "" "VUS" "" "0000667364" "0" "50" "5" "176687055" "176687055" "subst" "0" "01401" "NSD1_000279" "g.176687055G>T" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177260054G>T" "" "VUS" "" "0000667365" "0" "70" "5" "176687097" "176687097" "subst" "0" "01401" "NSD1_000280" "g.176687097C>A" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177260096C>A" "" "VUS" "" "0000667366" "0" "90" "5" "176687169" "176687169" "subst" "0" "01401" "NSD1_000281" "g.176687169G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177260168G>A" "" "pathogenic (dominant)" "" "0000667368" "0" "50" "5" "176696610" "176696610" "subst" "0" "01401" "NSD1_000282" "g.176696610C>G" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177269609C>G" "" "VUS" "" "0000667369" "0" "70" "5" "176707717" "176707717" "subst" "0" "01401" "NSD1_000283" "g.176707717G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177280716G>C" "" "pathogenic (dominant)" "" "0000667371" "0" "70" "5" "176707810" "176707810" "subst" "0" "01401" "NSD1_000284" "g.176707810T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177280809T>A" "" "pathogenic (dominant)" "" "0000667372" "0" "70" "5" "176709484" "176709484" "subst" "0" "01401" "NSD1_000295" "g.176709484T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177282483T>A" "" "pathogenic (dominant)" "" "0000667373" "0" "50" "5" "176709568" "176709568" "subst" "0" "01401" "NSD1_000294" "g.176709568C>G" "" "PhyloP score:4.32,\r\nhighly conserved nucleotide" "" "" "" "De novo" "" "" "0" "" "" "g.177282567C>G" "" "pathogenic" "" "0000667375" "0" "50" "5" "176710801" "176710801" "subst" "0" "01401" "NSD1_000293" "g.176710801A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177283800A>G" "" "VUS" "" "0000667376" "0" "50" "5" "176710815" "176710815" "subst" "0" "01401" "NSD1_000285" "g.176710815G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177283814G>A" "" "VUS" "" "0000667377" "0" "70" "5" "176715846" "176715846" "subst" "0" "01401" "NSD1_000170" "g.176715846C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177288845C>G" "" "pathogenic (dominant)" "" "0000667378" "0" "70" "5" "176715847" "176715847" "subst" "0" "01401" "NSD1_000292" "g.176715847T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177288846T>G" "" "pathogenic (dominant)" "" "0000667379" "0" "50" "5" "176719004" "176719004" "subst" "0" "01401" "NSD1_000299" "g.176719004A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177292003A>G" "" "VUS" "" "0000667380" "0" "70" "5" "176719046" "176719046" "subst" "0" "01401" "NSD1_000286" "g.176719046G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177292045G>T" "" "likely pathogenic (dominant)" "" "0000667381" "0" "50" "5" "176719068" "176719068" "subst" "0" "01401" "NSD1_000291" "g.176719068T>G" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177292067T>G" "" "VUS" "" "0000667382" "0" "50" "5" "176719088" "176719088" "subst" "0" "01401" "NSD1_000287" "g.176719088T>A" "" "" "" "" "" "De novo" "no" "" "0" "" "" "g.177292087T>A" "" "pathogenic (dominant)" "" "0000667383" "0" "70" "5" "176719132" "176719132" "subst" "0" "01401" "NSD1_000288" "g.176719132T>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177292131T>G" "" "pathogenic (dominant)" "" "0000667384" "0" "50" "5" "176719134" "176719134" "subst" "0" "01401" "NSD1_000289" "g.176719134T>G" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177292133T>G" "" "VUS" "" "0000667385" "0" "50" "5" "176719154" "176719154" "subst" "0" "01401" "NSD1_000290" "g.176719154C>A" "not reported" "" "" "" "the variant is in Zinc Finger,PHD-type domain,\r\nSIFT: deleterious (score:0.00, median: 3.86;\r\nMutation Taster: polymorphism (p-value:0.809)" "De novo" "" "" "0" "" "" "g.177292153C>A" "" "pathogenic" "ACMG" "0000667386" "0" "50" "5" "176720901" "176720901" "subst" "0" "01401" "NSD1_000298" "g.176720901T>C" "" "" "" "" "" "De novo" "" "" "" "" "" "g.177293900T>C" "" "VUS" "" "0000667626" "0" "50" "5" "176638088" "176638089" "del" "0" "01401" "NSD1_000300" "g.176638088_176638089del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177211087_177211088del" "" "VUS" "" "0000667627" "0" "70" "5" "176638306" "176638306" "del" "0" "01401" "NSD1_000301" "g.176638306del" "" "" "" "2906delG" "" "De novo" "" "" "0" "" "" "g.177211305del" "" "likely pathogenic (dominant)" "" "0000667628" "0" "70" "5" "176638744" "176638748" "del" "0" "01401" "NSD1_000302" "g.176638744_176638748del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177211743_177211747del" "" "likely pathogenic (dominant)" "" "0000667629" "0" "70" "5" "176638985" "176638985" "del" "0" "01401" "NSD1_000303" "g.176638985del" "" "" "" "3585delT" "" "De novo" "" "" "0" "" "" "g.177211984del" "" "likely pathogenic (dominant)" "" "0000667630" "0" "70" "5" "176639029" "176639029" "del" "0" "01401" "NSD1_000304" "g.176639029del" "" "" "" "3629delC" "" "De novo" "" "" "0" "" "" "g.177212028del" "" "likely pathogenic (dominant)" "" "0000667641" "0" "70" "5" "176639056" "176639057" "del" "0" "01401" "NSD1_000305" "g.176639056_176639057del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.177212055_177212056del" "" "pathogenic (dominant)" "" "0000667642" "0" "70" "5" "176639178" "176639178" "del" "0" "01401" "NSD1_000306" "g.176639178del" "" "" "" "3778delG" "" "De novo" "" "" "0" "" "" "g.177212177del" "" "likely pathogenic (dominant)" "" "0000667931" "0" "70" "5" "176662845" "176662845" "del" "0" "01401" "NSD1_000307" "g.176662845del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000667932" "0" "50" "5" "176666768" "176666768" "del" "0" "01401" "NSD1_000308" "g.176666768del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000667933" "0" "70" "5" "176675256" "176675256" "del" "0" "01401" "NSD1_000309" "g.176675256del" "" "" "" "4572delG" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000667935" "0" "70" "5" "176696655" "176696659" "del" "0" "01401" "NSD1_000311" "g.176696655_176696659del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000667936" "0" "70" "5" "176694582" "176694583" "del" "0" "01401" "NSD1_000310" "g.176694582_176694583del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668148" "0" "70" "5" "176707597" "176707597" "del" "0" "01401" "NSD1_000312" "g.176707597del" "" "" "" "5654delT" "" "De novo" "" "" "0" "" "" "g.177280596del" "" "VUS" "" "0000668149" "0" "70" "5" "176715852" "176715852" "del" "0" "01401" "NSD1_000340" "g.176715852del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668150" "0" "70" "5" "176718999" "176719002" "del" "0" "01401" "NSD1_000341" "g.176718999_176719002del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668151" "0" "70" "5" "176719009" "176719010" "del" "0" "01401" "NSD1_000342" "g.176719009_176719010del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668152" "0" "70" "5" "176719054" "176719054" "del" "0" "01401" "NSD1_000343" "g.176719054del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668199" "0" "50" "5" "176720910" "176720911" "delins" "0" "01401" "NSD1_000344" "g.176720910_176720911delinsAA" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668200" "0" "70" "5" "176631279" "176631280" "ins" "0" "01401" "NSD1_000316" "g.176631279_176631280insAA" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668201" "0" "70" "5" "176637551" "176637552" "ins" "0" "01401" "NSD1_000322" "g.176637551_176637552insTA" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668203" "0" "70" "5" "176637658" "176637659" "ins" "0" "01401" "NSD1_000323" "g.176637658_176637659insTC" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668204" "0" "70" "5" "176637882" "176637882" "dup" "0" "01401" "NSD1_000326" "g.176637882dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668205" "0" "70" "5" "176638048" "176638048" "dup" "0" "01401" "NSD1_000328" "g.176638048dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668206" "0" "70" "5" "176638233" "176638234" "ins" "0" "01401" "NSD1_000329" "g.176638233_176638234insA" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668207" "0" "70" "5" "176638474" "176638474" "dup" "0" "01401" "NSD1_000330" "g.176638474dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668208" "0" "70" "5" "176639167" "176639168" "ins" "0" "01401" "NSD1_000331" "g.176639167_176639168insAT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000668209" "0" "70" "5" "176662935" "176662935" "dup" "0" "01401" "NSD1_000332" "g.176662935dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668210" "0" "70" "5" "176665281" "176665281" "dup" "0" "01401" "NSD1_000333" "g.176665281dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668211" "0" "70" "5" "176666774" "176666775" "ins" "0" "01401" "NSD1_000334" "g.176666774_176666775insTT" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668212" "0" "70" "5" "176666845" "176666846" "dup" "0" "01401" "NSD1_000335" "g.176666845_176666846dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668213" "0" "70" "5" "176673755" "176673755" "dup" "0" "01401" "NSD1_000336" "g.176673755dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668214" "0" "70" "5" "176684140" "176684140" "dup" "0" "01401" "NSD1_000337" "g.176684140dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668215" "0" "70" "5" "176696706" "176696709" "dup" "0" "01401" "NSD1_000338" "g.176696706_176696709dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668238" "0" "70" "5" "176707671" "176707672" "dup" "0" "01401" "NSD1_000339" "g.176707671_176707672dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668239" "0" "70" "5" "176631143" "176631146" "del" "0" "01401" "NSD1_000313" "g.176631143_176631146del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668241" "0" "70" "5" "176631164" "176631164" "del" "0" "01401" "NSD1_000314" "g.176631164del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668242" "0" "70" "5" "176631273" "176631276" "del" "0" "01401" "NSD1_000315" "g.176631273_176631276del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668243" "0" "70" "5" "176636847" "176636847" "del" "0" "01401" "NSD1_000317" "g.176636847del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668244" "0" "70" "5" "176636976" "176636976" "del" "0" "01401" "NSD1_000318" "g.176636976del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668245" "0" "70" "5" "176637033" "176637033" "del" "0" "01401" "NSD1_000319" "g.176637033del" "" "" "" "1633delA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668246" "0" "70" "5" "176637067" "176637085" "del" "0" "01401" "NSD1_000320" "g.176637067_176637085del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668247" "0" "70" "5" "176637381" "176637382" "del" "0" "01401" "NSD1_000321" "g.176637381_176637382del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668248" "0" "70" "5" "176637662" "176637663" "del" "0" "01401" "NSD1_000324" "g.176637662_176637663del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668249" "0" "70" "5" "176637835" "176637835" "del" "0" "01401" "NSD1_000325" "g.176637835del" "" "" "" "2435delT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000668267" "0" "70" "5" "176637887" "176637888" "del" "0" "01401" "NSD1_000327" "g.176637887_176637888del" "" "" "" "2487_2488delAA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668656" "0" "70" "5" "176671275" "176671276" "del" "0" "01401" "NSD1_000358" "g.176671275_176671276del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668657" "0" "90" "5" "176687042" "176687043" "del" "0" "01401" "NSD1_000362" "g.176687042_176687043del" "" "" "" "5019_5020delTT" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668658" "0" "70" "5" "176719148" "176719155" "del" "0" "01401" "NSD1_000371" "g.176719148_176719155del" "" "" "" "6452_6459delAGCGACCA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668659" "0" "70" "5" "176719157" "176719157" "del" "0" "01401" "NSD1_000372" "g.176719157del" "" "" "" "6461delC" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668660" "0" "70" "5" "176637062" "176637063" "delins" "0" "01401" "NSD1_000351" "g.176637062_176637063delinsC" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668661" "0" "70" "5" "176666841" "176666842" "delins" "0" "01401" "NSD1_000355" "g.176666841_176666842delinsT" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000668662" "0" "70" "5" "176707587" "176707598" "delins" "0" "01401" "NSD1_000366" "g.176707587_176707598delinsTGTA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000668663" "0" "70" "5" "176671272" "176671272" "subst" "0" "01401" "NSD1_000357" "g.176671272G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668664" "0" "50" "5" "176686953" "176686956" "del" "0" "01401" "NSD1_000361" "g.176686953_176686956del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668665" "0" "90" "5" "176700786" "176700786" "subst" "0" "01401" "NSD1_000365" "g.176700786G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668668" "0" "70" "5" "176715927" "176715927" "subst" "0" "01401" "NSD1_000369" "g.176715927G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668669" "0" "70" "5" "176718953" "176718953" "subst" "0" "01401" "NSD1_000370" "g.176718953A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668670" "0" "70" "5" "176638101" "176638101" "dup" "0" "01401" "NSD1_000352" "g.176638101dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668671" "0" "70" "5" "176710825" "176710828" "dup" "0" "01401" "NSD1_000368" "g.176710825_176710828dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000668672" "0" "50" "5" "176562625" "176562625" "subst" "0" "01401" "NSD1_000345" "g.176562625T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668797" "0" "50" "5" "176563018" "176563018" "subst" "0" "01401" "NSD1_000346" "g.176563018A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668798" "0" "50" "5" "176563036" "176563036" "subst" "0" "01401" "NSD1_000347" "g.176563036G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000668799" "0" "50" "5" "176618904" "176618904" "subst" "0.00000406237" "01401" "NSD1_000348" "g.176618904C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668800" "0" "50" "5" "176631293" "176631293" "subst" "0" "01401" "NSD1_000349" "g.176631293G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668801" "0" "50" "5" "176637001" "176637001" "subst" "0" "01401" "NSD1_000350" "g.176637001G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000668802" "0" "50" "5" "176639076" "176639076" "subst" "0" "01401" "NSD1_000353" "g.176639076T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000668803" "0" "50" "5" "176639128" "176639128" "subst" "0" "01401" "NSD1_000354" "g.176639128G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000668804" "21" "50" "5" "176709472" "176709472" "subst" "0" "01401" "NSD1_000367" "g.176709472T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668805" "0" "50" "5" "176666981" "176666981" "subst" "0" "01401" "NSD1_000356" "g.176666981G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000668806" "11" "50" "5" "176678694" "176678694" "subst" "0" "01401" "NSD1_000359" "g.176678694A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668807" "21" "50" "5" "176696583" "176696583" "subst" "0" "01401" "NSD1_000363" "g.176696583C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668808" "11" "50" "5" "176678867" "176678867" "subst" "0" "01401" "NSD1_000360" "g.176678867T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000668809" "11" "50" "5" "176696759" "176696759" "subst" "0.0000121833" "01401" "NSD1_000364" "g.176696759G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668810" "11" "50" "5" "176721068" "176721068" "subst" "0.0000162509" "01401" "NSD1_000373" "g.176721068C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000668811" "11" "50" "5" "176721869" "176721869" "subst" "0.0000611736" "01401" "NSD1_000374" "g.176721869G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000669841" "3" "30" "5" "176637471" "176637471" "subst" "0.0207123" "03575" "NSD1_000042" "g.176637471G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs28932177}" "Germline" "" "rs28932177" "0" "" "" "g.177210470G>A" "" "likely benign" "" "0000669842" "3" "30" "5" "176722005" "176722005" "subst" "0.0240887" "03575" "NSD1_000074" "g.176722005G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs78247455}" "Germline" "" "rs78247455" "0" "" "" "g.177295004G>A" "" "likely benign" "" "0000673893" "0" "70" "5" "176684061" "176684064" "del" "0" "01164" "NSD1_000375" "g.176684061_176684064del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000677475" "0" "30" "5" "176637351" "176637351" "subst" "0.0000122199" "01943" "NSD1_000376" "g.176637351C>T" "" "" "" "NSD1(NM_022455.4):c.1951C>T (p.P651S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677476" "0" "30" "5" "176637820" "176637820" "subst" "0" "01804" "NSD1_000377" "g.176637820A>G" "" "" "" "NSD1(NM_022455.4):c.2420A>G (p.(Asn807Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677477" "0" "30" "5" "176638707" "176638707" "subst" "0.0000203074" "01804" "NSD1_000378" "g.176638707G>A" "" "" "" "NSD1(NM_022455.4):c.3307G>A (p.(Asp1103Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677478" "0" "30" "5" "176665385" "176665385" "subst" "0" "01943" "NSD1_000379" "g.176665385G>A" "" "" "" "NSD1(NM_022455.4):c.4069G>A (p.A1357T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683246" "0" "70" "5" "176637658" "176637659" "ins" "0" "01401" "NSD1_000323" "g.176637658_176637659insTC" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000683247" "0" "70" "5" "176673755" "176673755" "dup" "0" "01401" "NSD1_000336" "g.176673755dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000683248" "0" "50" "5" "176720910" "176720911" "delins" "0" "01401" "NSD1_000344" "g.176720910_176720911delinsAA" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000683249" "0" "70" "5" "176687042" "176687043" "del" "0" "01401" "NSD1_000381" "g.176687042_176687043delTT" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000683250" "11" "70" "5" "176678867" "176678867" "subst" "0" "01401" "NSD1_000360" "g.176678867T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000683251" "11" "50" "5" "176721869" "176721869" "subst" "0.0000611736" "01401" "NSD1_000374" "g.176721869G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000683256" "11" "50" "5" "176721869" "176721869" "subst" "0.0000611736" "01401" "NSD1_000374" "g.176721869G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000683257" "0" "50" "5" "176562301" "176562301" "subst" "0" "01164" "NSD1_000382" "g.176562301C>T" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000683329" "0" "70" "5" "176639197" "176639197" "subst" "0" "00006" "NSD1_000384" "g.176639197G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177212196G>A" "" "likely pathogenic (dominant)" "" "0000683383" "0" "70" "5" "176638672" "176638672" "subst" "0.0000324987" "00006" "NSD1_000383" "g.176638672T>G" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177211671T>G" "" "likely pathogenic (dominant)" "" "0000683408" "0" "50" "5" "176631295" "176631295" "subst" "0" "01401" "NSD1_000380" "g.176631295T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000683409" "0" "50" "5" "176631295" "176631295" "subst" "0" "01401" "NSD1_000380" "g.176631295T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000687733" "0" "70" "5" "176719040" "176719040" "dup" "0" "01164" "NSD1_000173" "g.176719040dup" "" "" "" "" "ACMG grading: PVS1,PM2\r\n3,5 year old boy with macrocephaly, high growth, speech development disorder" "Germline" "" "rs797045831" "0" "" "" "g.177292039dup" "" "likely pathogenic" "ACMG" "0000689484" "0" "50" "5" "176562175" "176562175" "subst" "0" "01804" "NSD1_000385" "g.176562175C>T" "" "" "" "NSD1(NM_022455.4):c.71C>T (p.(Ala24Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689485" "0" "30" "5" "176562321" "176562321" "subst" "0" "01804" "NSD1_000386" "g.176562321C>T" "" "" "" "NSD1(NM_022455.4):c.217C>T (p.(Arg73Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689486" "0" "10" "5" "176562786" "176562786" "subst" "0.000020326" "01804" "NSD1_000387" "g.176562786C>G" "" "" "" "NSD1(NM_022455.4):c.682C>G (p.(Pro228Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689487" "0" "30" "5" "176666791" "176666791" "subst" "0" "01943" "NSD1_000388" "g.176666791T>C" "" "" "" "NSD1(NM_022455.4):c.4227T>C (p.T1409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694253" "0" "90" "5" "176637231" "176637231" "subst" "0" "00006" "NSD1_000389" "g.176637231C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.177210230C>T" "" "pathogenic" "ACMG" "0000694254" "0" "90" "5" "176637245" "176637246" "del" "0" "00006" "NSD1_000390" "g.176637245_176637246del" "" "{PMID:Faundes 2018:29276005}" "" "1840_1841delGT" "" "De novo" "" "" "0" "" "" "g.177210244_177210245del" "" "pathogenic" "ACMG" "0000694255" "0" "90" "5" "176637500" "176637501" "del" "0" "00006" "NSD1_000391" "g.176637500_176637501del" "" "{PMID:Faundes 2018:29276005}" "" "2100_2101delGA" "" "De novo" "" "" "0" "" "" "g.177210499_177210500del" "" "pathogenic" "ACMG" "0000694256" "0" "90" "5" "176638504" "176638504" "subst" "0" "00006" "NSD1_000392" "g.176638504C>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.177211503C>G" "" "pathogenic" "ACMG" "0000694257" "0" "90" "5" "176665274" "176665274" "subst" "0" "00006" "NSD1_000148" "g.176665274C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.177238273C>T" "" "pathogenic" "ACMG" "0000694258" "0" "90" "5" "176673677" "176673677" "subst" "0" "00006" "NSD1_000109" "g.176673677A>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.177246676A>G" "" "pathogenic" "ACMG" "0000694259" "0" "90" "5" "176694716" "176694716" "dup" "0" "00006" "NSD1_000393" "g.176694716dup" "" "{PMID:Faundes 2018:29276005}" "" "5300dupA" "" "De novo" "" "" "0" "" "" "g.177267715dup" "" "pathogenic" "ACMG" "0000694260" "0" "90" "5" "176709563" "176709563" "subst" "0" "00006" "NSD1_000394" "g.176709563A>G" "" "{PMID:Faundes 2018:29276005}" "" "5990A>G" "" "De novo" "" "" "0" "" "" "g.177282562A>G" "" "pathogenic" "ACMG" "0000694261" "0" "90" "5" "176720974" "176720974" "subst" "0" "00006" "NSD1_000105" "g.176720974G>A" "" "{PMID:Faundes 2018:29276005}" "" "6605G>A" "" "De novo" "" "" "0" "" "" "g.177293973G>A" "" "pathogenic" "ACMG" "0000694262" "0" "70" "5" "176721015" "176721015" "subst" "0" "00006" "NSD1_000395" "g.176721015G>A" "" "{PMID:Faundes 2018:29276005}" "" "6646G>A" "" "De novo" "" "" "0" "" "" "g.177294014G>A" "" "likely pathogenic" "ACMG" "0000698333" "0" "90" "5" "176665274" "176665274" "subst" "0" "00006" "NSD1_000148" "g.176665274C>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177238273C>T" "" "pathogenic" "ACMG" "0000698334" "0" "70" "5" "176720926" "176720926" "subst" "0" "00006" "NSD1_000396" "g.176720926A>G" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177293925A>G" "" "likely pathogenic" "ACMG" "0000704158" "0" "90" "5" "176638896" "176638896" "del" "0" "01807" "NSD1_000397" "g.176638896del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.177211895del" "" "pathogenic" "" "0000720343" "0" "70" "5" "176637586" "176637586" "dup" "0" "02327" "NSD1_000401" "g.176637586dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720344" "0" "30" "5" "176637695" "176637695" "subst" "0.00048337" "01943" "NSD1_000402" "g.176637695C>T" "" "" "" "NSD1(NM_022455.4):c.2295C>T (p.N765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720345" "0" "30" "5" "176675289" "176675289" "subst" "0.000105796" "01804" "NSD1_000403" "g.176675289C>T" "" "" "" "NSD1(NM_022455.4):c.4605C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720346" "0" "70" "5" "176707684" "176707684" "subst" "0" "02329" "NSD1_000164" "g.176707684G>T" "" "" "" "NSD1(NM_022455.4):c.5741G>T (p.R1914L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720347" "0" "90" "5" "176710792" "176710792" "subst" "0" "02329" "NSD1_000035" "g.176710792G>A" "" "" "" "NSD1(NM_022455.4):c.6014G>A (p.R2005Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720348" "0" "70" "5" "176720956" "176720956" "subst" "0" "02327" "NSD1_000404" "g.176720956T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720349" "0" "30" "5" "176721426" "176721426" "subst" "0.000130131" "01804" "NSD1_000405" "g.176721426C>T" "" "" "" "NSD1(NM_022455.4):c.7057C>T (p.(Pro2353Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720350" "0" "30" "5" "176722277" "176722277" "subst" "0.000756842" "01943" "NSD1_000192" "g.176722277C>T" "" "" "" "NSD1(NM_022455.4):c.7908C>T (p.L2636=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730031" "0" "90" "5" "176637458" "176637458" "subst" "0" "00000" "NSD1_000400" "g.176637458T>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022455.4:c.2058T>A:p.(Tyr686*)" "" "De novo" "" "" "0" "" "" "g.177210457T>A" "" "likely pathogenic (dominant)" "" "0000730032" "0" "90" "5" "176637293" "176637293" "del" "0" "00000" "NSD1_000399" "g.176637293del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022455.4:c.1893delG:p.(Lys631Asnfs*22)" "" "De novo" "" "" "0" "" "" "g.177210292del" "" "likely pathogenic (dominant)" "" "0000730033" "0" "90" "5" "176637224" "176637224" "del" "0" "00000" "NSD1_000398" "g.176637224del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_022455.4:c.1824delA:p.(Lys608Asnfs*12)" "" "De novo" "" "" "0" "" "" "g.177210223del" "" "likely pathogenic (dominant)" "" "0000763195" "1" "90" "5" "176637458" "176637458" "subst" "0" "00006" "NSD1_000400" "g.176637458T>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "" "g.177210457T>A" "" "pathogenic" "ACMG" "0000786967" "0" "90" "5" "176636718" "176636718" "subst" "0" "00006" "NSD1_000407" "g.176636718C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.177209717C>T" "" "pathogenic" "" "0000786968" "0" "90" "5" "176637255" "176637255" "del" "0" "00006" "NSD1_000408" "g.176637255del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.177210254del" "" "pathogenic" "" "0000786969" "0" "90" "5" "176710786" "176710786" "subst" "0" "00006" "NSD1_000410" "g.176710786A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.177283785A>C" "" "pathogenic" "" "0000786970" "0" "90" "5" "176710827" "176710827" "subst" "0" "00006" "NSD1_000166" "g.176710827C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.177283826C>T" "" "pathogenic" "" "0000787160" "0" "50" "5" "176710841" "176710841" "subst" "0" "00006" "NSD1_000411" "g.176710841T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.177283840T>G" "" "VUS" "" "0000787342" "0" "50" "5" "176678843" "176678843" "subst" "0" "00006" "NSD1_000409" "g.176678843A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.177251842A>C" "" "VUS" "" "0000787490" "0" "90" "5" "176636637" "176639196" "del" "0" "00000" "NSD1_000406" "g.(?_176636637)_(176639196_?)del" "" "0" "" "chr5:176636637-?_176639196+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000799909" "0" "70" "5" "176636882" "176636882" "subst" "0" "01401" "NSD1_000412" "g.176636882C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000802039" "0" "30" "5" "176637850" "176637850" "subst" "0.000162529" "02325" "NSD1_000413" "g.176637850C>T" "" "" "" "NSD1(NM_022455.4):c.2450C>T (p.S817F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802040" "0" "30" "5" "176638488" "176638488" "subst" "0.0000407014" "01804" "NSD1_000414" "g.176638488T>C" "" "" "" "NSD1(NM_022455.4):c.3088T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802041" "0" "50" "5" "176639169" "176639169" "subst" "0" "01943" "NSD1_000415" "g.176639169A>C" "" "" "" "NSD1(NM_022455.4):c.3769A>C (p.T1257P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802042" "0" "30" "5" "176722221" "176722221" "subst" "0.000110033" "01804" "NSD1_000416" "g.176722221G>A" "" "" "" "NSD1(NM_022455.4):c.7852G>A (p.(Val2618Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817705" "0" "70" "5" "" "" "" "" "00000" "RAD50_000000" "g.?" "" "{PMID:Zanolli 2020:32141364}" "" "NSD1 Deletion of entire sequencing region" "no protein change given, heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely 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 NSD1 ## Count = 511 "{{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}}" "0000001048" "00000150" "50" "2791" "0" "2791" "0" "c.2791C>G" "r.(?)" "p.(Gln931Glu)" "5" "0000001049" "00000150" "50" "3796" "108" "3796" "108" "c.3796+108C>G" "r.(=)" "p.(=)" "5i" "0000001050" "00000150" "50" "3796" "108" "3796" "108" "c.3796+108C>G" "r.(=)" "p.(=)" "5i" "0000001051" "00000150" "50" "3796" "108" "3796" "108" "c.3796+108C>G" "r.(=)" "p.(=)" "5i" "0000001052" "00000150" "50" "6903" "0" "6903" "0" "c.6903G>C" "r.(=)" "p.(=)" "23" "0000001053" "00000150" "50" "6903" "0" "6903" "0" "c.6903G>C" "r.(=)" "p.(=)" "23" "0000046793" "00000150" "30" "6203" "0" "6203" "0" "c.6203C>G" "r.(?)" "p.(Thr2068Ser)" "21" "0000063592" "00000150" "50" "6605" "0" "6605" "0" "c.6605G>A" "r.(?)" "p.(Cys2202Tyr)" "23" "0000063593" "00000150" "10" "6444" "0" "6444" "0" "c.6444T>C" "r.(=)" "p.(=)" "22" "0000063594" "00000150" "90" "5854" "0" "5854" "0" "c.5854C>T" "r.(?)" "p.(Arg1952Trp)" "18" "0000063595" "00000150" "90" "3577" "0" "3578" "0" "c.3577_3578insAA" "r.(?)" "p.(Ser1193Lysfs*27)" "5" "0000063596" "00000150" "10" "927" "48" "927" "48" "c.927+48A>G" "r.(=)" "p.(=)" "2i" "0000063597" "00000150" "50" "5843" "0" "5843" "0" "c.5843G>A" "r.(?)" "p.(Arg1948His)" "18" "0000079317" "00000150" "90" "2098" "0" "2100" "0" "c.2098_2100del" "r.(?)" "p.(Gln700del)" "3" "0000079321" "00000150" "00" "6605" "0" "6605" "0" "c.6605G>A" "r.(?)" "p.(Cys2202Tyr)" "23" "0000079400" "00000150" "00" "4379" "-2" "4379" "-2" "c.4379-2A>G" "r.spl?" "p.?" "9i" "0000130143" "00000150" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Gln775*)" "5" "0000130253" "00000150" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498*)" "5" "0000134723" "00000150" "90" "3038" "0" "3038" "0" "c.3038C>G" "r.(?)" "p.(Ser1013*)" "5" "0000164433" "00000150" "10" "5623" "-22" "5623" "-22" "c.5623-22G>A" "r.(=)" "p.(=)" "16i" "0000164434" "00000150" "10" "6464" "-67" "6464" "-67" "c.6464-67G>A" "r.(=)" "p.(=)" "22i" "0000164435" "00000150" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_23_" "0000164436" "00000150" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_23_" "0000164437" "00000150" "99" "2576" "0" "2577" "0" "c.2576_2577del" "r.(?)" "p.(His859Argfs*15)" "5" "0000164438" "00000150" "59" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Tyr364Cys)" "4" "0000164439" "00000150" "99" "6019" "0" "6019" "0" "c.6019A>T" "r.(?)" "p.(Ile2007Phe)" "20" "0000164440" "00000150" "99" "6214" "0" "6214" "0" "c.6214T>C" "r.(?)" "p.(Cys2072Arg)" "21" "0000164441" "00000150" "90" "1171" "0" "1171" "0" "c.1171del" "r.(?)" "p.(Gln391AsnfsTer28)" "4" "0000164442" "00000150" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(R604*)" "5" "0000164443" "00000150" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Q775*)" "5" "0000164444" "00000150" "90" "4417" "0" "4417" "0" "c.4417C>T" "r.(?)" "p.(R1473*)" "10" "0000164445" "00000150" "90" "5744" "0" "5744" "0" "c.5744dup" "r.(?)" "p.(Met1915IlefsTer5)" "18" "0000164446" "00000150" "90" "5861" "0" "5861" "0" "c.5861G>A" "r.(?)" "p.(W1954*)" "18" "0000164447" "00000150" "90" "6302" "0" "6302" "0" "c.6302del" "r.(?)" "p.(Lys2101ArgfsTer49)" "22" "0000164448" "00000150" "90" "6428" "0" "6429" "0" "c.6428_6429ins(17)" "r.spl" "p.?" "22" "0000164449" "00000150" "99" "2530" "0" "2537" "0" "c.2530_2537delinsTGTT" "r.(?)" "p.(Glu844Cysfs*8)" "5" "0000164450" "00000150" "90" "5022" "0" "5022" "0" "c.5022C>G" "r.(?)" "p.(C1674W)" "14" "0000164451" "00000150" "90" "4847" "0" "4847" "0" "c.4847A>T" "r.(?)" "p.(H1616L)" "13" "0000164452" "00000150" "90" "4910" "0" "4910" "0" "c.4910T>C" "r.(?)" "p.(L1637P)" "13" "0000164453" "00000150" "90" "5375" "0" "5375" "0" "c.5375G>T" "r.(?)" "p.(G1792V)" "16" "0000164454" "00000150" "90" "6014" "0" "6014" "0" "c.6014G>A" "r.(?)" "p.(R2005Q)" "20" "0000164455" "00000150" "90" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(R2017Q)" "20" "0000164456" "00000150" "90" "6429" "0" "6429" "0" "c.6429C>G" "r.(?)" "p.(H2143E)" "22" "0000164457" "00000150" "90" "6548" "0" "6548" "0" "c.6548G>C" "r.(?)" "p.(C2183S)" "23" "0000164458" "00000150" "99" "2042" "0" "2042" "0" "c.2042dup" "r.(?)" "p.(Asn681fs)" "5" "0000164459" "00000150" "90" "0" "0" "0" "0" "c.(927+1_928-1)" "r.?" "p.?" "2i" "0000164460" "00000150" "55" "5893" "-27" "5893" "-23" "c.5893-27_5893-23del" "r.(?)" "p.(=)" "18i" "0000164461" "00000150" "55" "2032" "0" "2032" "0" "c.2032A>G" "r.(?)" "p.(Met678Val)" "5" "0000164462" "00000150" "55" "2835" "0" "2835" "0" "c.2835T>C" "r.(?)" "p.(Ser945Ser)" "5" "0000164463" "00000150" "55" "2835" "0" "2835" "0" "c.2835T>C" "r.(?)" "p.(Ser945Ser)" "5" "0000164464" "00000150" "55" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Pro1060Ser)" "5" "0000164465" "00000150" "55" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Arg1268Gln)" "6" "0000164466" "00000150" "50" "5277" "0" "5278" "0" "c.5277_5278insA" "r.(?)" "p.(Val1760Serfs*14)" "15" "0000164467" "00000150" "55" "5893" "-27" "5893" "-23" "c.5893-27_5893-23del" "r.(?)" "p.(=)" "18i" "0000164468" "00000150" "55" "5893" "-27" "5893" "-23" "c.5893-27_5893-23del" "r.(?)" "p.(=)" "18i" "0000164469" "00000150" "55" "5893" "-27" "5893" "-23" "c.5893-27_5893-23del" "r.(?)" "p.(=)" "18i" "0000164470" "00000150" "55" "5893" "-27" "5893" "-23" "c.5893-27_5893-23del" "r.(?)" "p.(=)" "18i" "0000164471" "00000150" "55" "6152" "-50" "6152" "-50" "c.6152-50del" "r.(=)" "p.(=)" "20i" "0000164472" "00000150" "55" "6152" "-50" "6152" "-50" "c.6152-50del" "r.(=)" "p.(=)" "20i" "0000164473" "00000150" "55" "3722" "0" "3722" "0" "c.3722G>C" "r.(?)" "p.(Ser1241Thr)" "5" "0000164474" "00000150" "55" "3722" "0" "3722" "0" "c.3722G>C" "r.(?)" "p.(Ser1241Thr)" "5" "0000164475" "00000150" "55" "5173" "0" "5173" "0" "c.5173T>C" "r.(?)" "p.(Cys1725Arg)" "15" "0000164476" "00000150" "55" "6237" "0" "6237" "0" "c.6237C>T" "r.(?)" "p.(Gly2079Gly)" "21" "0000164477" "00000150" "90" "4411" "0" "4411" "0" "c.4411C>T" "r.(?)" "p.(R1471*)" "10" "0000164478" "00000150" "90" "4883" "0" "4883" "0" "c.4883del" "r.(?)" "p.(Met1628SerfsTer14)" "13" "0000164479" "00000150" "90" "5510" "-2" "5510" "-2" "c.5510-2del" "r.spl?" "p.?" "16i" "0000164480" "00000150" "90" "6450" "0" "6450" "0" "c.6450dup" "r.(?)" "p.(Lys2151GlnfsTer15)" "22" "0000164481" "00000150" "90" "5773" "0" "5773" "0" "c.5773T>C" "r.(?)" "p.(C1925R)" "18" "0000164482" "00000150" "10" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(=)" "5" "0000164483" "00000150" "10" "1792" "0" "1792" "0" "c.1792T>C" "r.(?)" "p.(=)" "5" "0000164484" "00000150" "10" "1840" "0" "1840" "0" "c.1840G>T" "r.(?)" "p.(V614L)" "5" "0000164485" "00000150" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(A691T)" "5" "0000164486" "00000150" "10" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(S726P)" "5" "0000164487" "00000150" "10" "3106" "0" "3106" "0" "c.3106G>C" "r.(?)" "p.(A1036P)" "5" "0000164488" "00000150" "10" "3271" "0" "3271" "0" "c.3271C>A" "r.(?)" "p.(L1091I)" "5" "0000164489" "00000150" "10" "3705" "0" "3705" "0" "c.3705T>C" "r.(?)" "p.(=)" "5" "0000164490" "00000150" "10" "4498" "-9" "4498" "-9" "c.4498-9delT" "r.(=)" "p.(=)" "10i" "0000164491" "00000150" "10" "5623" "-22" "5623" "-22" "c.5623-22G>A" "r.(=)" "p.(=)" "17i" "0000164492" "00000150" "10" "5893" "-132" "5893" "-132" "c.5893-132G>A" "r.(=)" "p.(=)" "18i" "0000164493" "00000150" "11" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "23" "0000164494" "00000150" "11" "6782" "0" "6782" "0" "c.6782T>C" "r.(?)" "p.(Met2261Thr)" "23" "0000164495" "00000150" "10" "6829" "0" "6829" "0" "c.6829C>T" "r.(?)" "p.(Leu2277Leu)" "23" "0000164496" "00000150" "11" "6829" "0" "6829" "0" "c.6829T>C" "r.(?)" "p.(Leu2277Leu)" "23" "0000164497" "00000150" "11" "6903" "0" "6903" "0" "c.6903G>C" "r.(?)" "p.(Gly2301Gly)" "23" "0000164498" "00000150" "53" "-8" "0" "-8" "0" "c.-8G>A" "r.(?)" "p.(=)" "2" "0000164499" "00000150" "10" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Cys494Cys)" "5" "0000164500" "00000150" "10" "1558" "0" "1558" "0" "c.1558G>A" "r.(?)" "p.(Ala502Thr)" "5" "0000164501" "00000150" "90" "1743" "0" "1743" "0" "c.1743del" "r.(?)" "p.(Glu581Aspfs*18)" "5" "0000164502" "00000150" "10" "1792" "0" "1792" "0" "c.1792T>C" "r.(?)" "p.(Leu598Leu)" "5" "0000164503" "00000150" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(R604*)" "5" "0000164504" "00000150" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "5" "0000164505" "00000150" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "5" "0000164506" "00000150" "57" "2124" "0" "2127" "0" "c.2124_2127del" "r.(?)" "p.(His708fs)" "5" "0000164507" "00000150" "10" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Ser726Pro)" "5" "0000164508" "00000150" "10" "3106" "0" "3106" "0" "c.3106G>C" "r.(?)" "p.(Ala1036Pro)" "5" "0000164509" "00000150" "55" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Cys113=)" "2" "0000164510" "00000150" "10" "3705" "0" "3705" "0" "c.3705T>C" "r.(?)" "p.(Asn1235Asn)" "5" "0000164511" "00000150" "10" "3705" "0" "3705" "0" "c.3705T>C" "r.(?)" "p.(Asn1235Asn)" "5" "0000164512" "00000150" "57" "3796" "1" "3796" "1" "c.3796+1G>C" "r.(?)" "p.?" "5i" "0000164513" "00000150" "53" "3796" "22" "3796" "22" "c.3796+22A>T" "r.(?)" "p.(=)" "5i" "0000164514" "00000150" "90" "4146" "0" "4147" "0" "c.4146_4147del" "r.(?)" "p.(Pro1383Thrfs*5)" "7" "0000164515" "00000150" "90" "4411" "0" "4411" "0" "c.4411C>T" "r.(?)" "p.(Arg1471fs*)" "10" "0000164516" "00000150" "90" "4497" "1" "4497" "1" "c.4497+1G>A" "r.spl?" "p.(del?)" "10i" "0000164517" "00000150" "10" "4498" "-9" "4498" "-9" "c.4498-9delT" "r.(=)" "p.(=)" "10i" "0000164518" "00000150" "90" "5332" "0" "5332" "0" "c.5332C>T" "r.(?)" "p.(Arg1778*)" "16" "0000164519" "00000150" "90" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Trp1806*)" "16" "0000164520" "00000150" "90" "5431" "0" "5431" "0" "c.5431C>T" "r.(?)" "p.(Arg1811*)" "16" "0000164521" "00000150" "57" "5581" "0" "5581" "0" "c.5581C>T" "r.(?)" "p.(Arg1861*)" "17" "0000164522" "00000150" "90" "6349" "0" "6349" "0" "c.6349C>T" "r.(?)" "p.(Arg2117*)" "22" "0000164523" "00000150" "90" "6490" "0" "6490" "0" "c.6490T>C" "r.(?)" "p.(Cys2164Arg)" "23" "0000164524" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "23" "0000164525" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "23" "0000164526" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "23" "0000164527" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "23" "0000164528" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "23" "0000164529" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "23" "0000164530" "00000150" "10" "6903" "0" "6903" "0" "c.6903G>C" "r.(?)" "p.(Gly2301Gly)" "23" "0000164531" "00000150" "10" "7636" "0" "7636" "0" "c.7636G>A" "r.(?)" "p.(Ala2546Thr)" "23" "0000164532" "00000150" "10" "7850" "0" "7850" "0" "c.7850T>C" "r.(?)" "p.(Leu2617Ser)" "23" "0000164533" "00000150" "90" "1310" "0" "1310" "0" "c.1310C>G" "r.(?)" "p.(Ser437*)" "5" "0000164534" "00000150" "90" "1727" "0" "1727" "0" "c.1727del" "r.(?)" "p.(Asn576ThrfsTer23)" "5" "0000164535" "00000150" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(R604*)" "5" "0000164536" "00000150" "90" "2807" "0" "2807" "0" "c.2807dup" "r.(?)" "p.(Tyr936Ter)" "5" "0000164537" "00000150" "90" "3383" "0" "3384" "0" "c.3383_3384del" "r.(?)" "p.(S1128fs*1129)" "5" "0000164538" "00000150" "90" "3536" "0" "3536" "0" "c.3536del" "r.(?)" "p.(Glu1179Glyfs*40)" "5" "0000164539" "00000150" "90" "3996" "0" "3997" "0" "c.3996_3997dup" "r.(?)" "p.(Asn1333ArgfsTer4)" "7" "0000164540" "00000150" "90" "4900" "0" "4900" "0" "c.4900del" "r.(?)" "p.(Arg1634GlyfsTer8)" "13" "0000164541" "00000150" "90" "5008" "0" "5008" "0" "c.5008dup" "r.(?)" "p.(Ala1670GlyfsTer3)" "14" "0000164542" "00000150" "90" "5296" "0" "5296" "0" "c.5296C>T" "r.(?)" "p.(Arg1766*)" "15" "0000164543" "00000150" "90" "5304" "-1" "5304" "-1" "c.5304-1G>C" "r.(?)" "p.(?)" "15i" "0000164544" "00000150" "90" "5332" "0" "5332" "0" "c.5332C>T" "r.(?)" "p.(R1778*)" "16" "0000164545" "00000150" "90" "5892" "1" "5892" "1" "c.5892+1G>C" "r.spl?" "p.(del?)" "18i" "0000164546" "00000150" "90" "5997" "0" "5998" "0" "c.5997_5998insT" "r.(?)" "p.(Thr2000Tyrfs*9)" "19" "0000164547" "00000150" "90" "6001" "0" "6001" "0" "c.6001del" "r.(?)" "p.(Leu2001Ter)" "19" "0000164548" "00000150" "90" "6031" "0" "6032" "0" "c.6031_6032insTGGT" "r.(?)" "p.(Pro2011Trpfs*2027 )" "20" "0000164549" "00000150" "90" "6151" "1" "6151" "1" "c.6151+1G>A" "r.6010_6151del" "p.Asp2004Alafs*10" "20i" "0000164550" "00000150" "11" "1763" "0" "1763" "0" "c.1763A>C" "r.(?)" "p.(Asp588Ala)" "5" "0000164551" "00000150" "99" "5098" "0" "5098" "0" "c.5098C>T" "r.(?)" "p.(Arg1700*)" "14" "0000164552" "00000150" "99" "5296" "0" "5296" "0" "c.5296C>T" "r.(?)" "p.(Arg1766*)" "15" "0000164553" "00000150" "99" "5310" "0" "5310" "0" "c.5310G>A" "r.(?)" "p.(Trp1770*)" "16" "0000164554" "00000150" "99" "6013" "0" "6013" "0" "c.6013C>T" "r.(?)" "p.(Arg2005*)" "20" "0000164555" "00000150" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(R498*)" "5" "0000164556" "00000150" "90" "2576" "0" "2577" "0" "c.2576_2577del" "r.(?)" "p.(His859Argfs*15)" "5" "0000164557" "00000150" "90" "3549" "0" "3549" "0" "c.3549dup" "r.(?)" "p.(Glu1184Ter)" "5" "0000241263" "00000150" "90" "2596" "0" "2596" "0" "c.2596G>T" "r.(?)" "p.(Glu866*)" "" "0000249538" "00000150" "30" "6464" "-20" "6464" "-20" "c.6464-20A>G" "r.(=)" "p.(=)" "" "0000253788" "00000150" "10" "6259" "-8" "6259" "-8" "c.6259-8A>T" "r.(=)" "p.(=)" "" "0000254752" "00000150" "30" "3121" "0" "3121" "0" "c.3121A>G" "r.(?)" "p.(Asn1041Asp)" "" "0000255229" "00000150" "30" "3796" "22" "3796" "22" "c.3796+22A>T" "r.(=)" "p.(=)" "" "0000255627" "00000150" "90" "6163" "0" "6163" "0" "c.6163A>G" "r.(?)" "p.(Thr2055Ala)" "" "0000296624" "00000150" "10" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Cys494=)" "" "0000296625" "00000150" "10" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Glu583=)" "" "0000296626" "00000150" "50" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Ser661Asn)" "" "0000296627" "00000150" "10" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Ser726Pro)" "" "0000296628" "00000150" "30" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(His1096Tyr)" "" "0000296629" "00000150" "10" "6829" "0" "6829" "0" "c.6829T>C" "r.(?)" "p.(Leu2277=)" "" "0000296630" "00000150" "10" "6903" "0" "6903" "0" "c.6903G>C" "r.(?)" "p.(Gly2301=)" "" "0000298750" "00000150" "90" "3091" "0" "3091" "0" "c.3091C>T" "r.(?)" "p.(Arg1031Ter)" "" "0000300455" "00000150" "10" "3106" "0" "3106" "0" "c.3106G>C" "r.(?)" "p.(Ala1036Pro)" "" "0000304573" "00000150" "90" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Leu395=)" "" "0000304574" "00000150" "10" "1236" "9" "1236" "9" "c.1236+9C>T" "r.(=)" "p.(=)" "" "0000304575" "00000150" "10" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Cys494=)" "" "0000304576" "00000150" "10" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Asn505=)" "" "0000304577" "00000150" "10" "1690" "0" "1690" "0" "c.1690G>T" "r.(?)" "p.(Ala564Ser)" "" "0000304578" "00000150" "10" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Glu583=)" "" "0000304579" "00000150" "10" "1811" "0" "1811" "0" "c.1811G>T" "r.(?)" "p.(Arg604Leu)" "" "0000304580" "00000150" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(Asn660=)" "" "0000304581" "00000150" "90" "2007" "0" "2013" "0" "c.2007_2013del" "r.(?)" "p.(Phe669LeufsTer14)" "" "0000304582" "00000150" "30" "2031" "0" "2031" "0" "c.2031T>G" "r.(?)" "p.(Ser677=)" "" "0000304583" "00000150" "90" "2137" "0" "2137" "0" "c.2137dup" "r.(?)" "p.(Met713AsnfsTer5)" "" "0000304584" "00000150" "10" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Thr723=)" "" "0000304585" "00000150" "10" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Ser726Pro)" "" "0000304587" "00000150" "90" "2192" "0" "2193" "0" "c.2192_2193del" "r.(?)" "p.(Ser731Ter)" "" "0000304588" "00000150" "90" "2386" "0" "2389" "0" "c.2386_2389del" "r.(?)" "p.(Glu796IlefsTer10)" "" "0000304589" "00000150" "90" "2607" "0" "2607" "0" "c.2607C>G" "r.(?)" "p.(Tyr869Ter)" "" "0000304590" "00000150" "90" "2768" "0" "2771" "0" "c.2768_2771del" "r.(?)" "p.(Lys923SerfsTer4)" "" "0000304591" "00000150" "90" "2859" "0" "2860" "0" "c.2859_2860insTT" "r.(?)" "p.(Lys954LeufsTer87)" "" "0000304592" "00000150" "50" "29" "0" "29" "0" "c.29G>T" "r.(?)" "p.(Arg10Ile)" "" "0000304593" "00000150" "90" "3004" "0" "3005" "0" "c.3004_3005del" "r.(?)" "p.(Lys1002GlufsTer8)" "" "0000304594" "00000150" "90" "3067" "0" "3067" "0" "c.3067C>T" "r.(?)" "p.(Arg1023Ter)" "" "0000304595" "00000150" "50" "3089" "0" "3089" "0" "c.3089T>C" "r.(?)" "p.(Leu1030Ser)" "" "0000304596" "00000150" "30" "3090" "0" "3090" "0" "c.3090G>T" "r.(?)" "p.(Leu1030Phe)" "" "0000304597" "00000150" "10" "3106" "0" "3106" "0" "c.3106G>C" "r.(?)" "p.(Ala1036Pro)" "" "0000304599" "00000150" "90" "3191" "0" "3192" "0" "c.3191_3192del" "r.(?)" "p.(Leu1064ArgfsTer22)" "" "0000304600" "00000150" "90" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072Ter)" "" "0000304601" "00000150" "30" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(His1096Tyr)" "" "0000304602" "00000150" "10" "3705" "0" "3705" "0" "c.3705T>C" "r.(?)" "p.(Asn1235=)" "" "0000304603" "00000150" "30" "3722" "0" "3722" "0" "c.3722G>C" "r.(?)" "p.(Ser1241Thr)" "" "0000304605" "00000150" "90" "3964" "0" "3964" "0" "c.3964C>T" "r.(?)" "p.(Arg1322Ter)" "" "0000304607" "00000150" "90" "4417" "0" "4417" "0" "c.4417C>T" "r.(?)" "p.(Arg1473Ter)" "" "0000304608" "00000150" "10" "4498" "-10" "4498" "-10" "c.4498-10del" "r.(=)" "p.(=)" "" "0000304609" "00000150" "30" "4509" "0" "4509" "0" "c.4509G>A" "r.(?)" "p.(Met1503Ile)" "" "0000304610" "00000150" "90" "4591" "0" "4591" "0" "c.4591dup" "r.(?)" "p.(Met1531AsnfsTer4)" "" "0000304611" "00000150" "90" "4686" "0" "4686" "0" "c.4686C>G" "r.(?)" "p.(Cys1562Trp)" "" "0000304612" "00000150" "90" "4697" "0" "4697" "0" "c.4697del" "r.(?)" "p.(Phe1566SerfsTer8)" "" "0000304613" "00000150" "30" "4760" "0" "4760" "0" "c.4760G>A" "r.(?)" "p.(Arg1587His)" "" "0000304614" "00000150" "10" "4765" "19" "4765" "19" "c.4765+19G>A" "r.(=)" "p.(=)" "" "0000304615" "00000150" "10" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Asp160=)" "" "0000304616" "00000150" "90" "4961" "0" "4961" "0" "c.4961del" "r.(?)" "p.(Ser1654LeufsTer5)" "" "0000304618" "00000150" "90" "5164" "0" "5164" "0" "c.5164T>C" "r.(?)" "p.(Cys1722Arg)" "" "0000304619" "00000150" "90" "5410" "0" "5410" "0" "c.5410T>G" "r.(?)" "p.(Tyr1804Asp)" "" "0000304620" "00000150" "10" "5623" "-22" "5623" "-22" "c.5623-22G>A" "r.(=)" "p.(=)" "" "0000304621" "00000150" "90" "5716" "0" "5716" "0" "c.5716G>A" "r.(?)" "p.(Gly1906Arg)" "" "0000304622" "00000150" "90" "5854" "0" "5854" "0" "c.5854C>T" "r.(?)" "p.(Arg1952Trp)" "" "0000304623" "00000150" "90" "6020" "0" "6020" "0" "c.6020T>C" "r.(?)" "p.(Ile2007Thr)" "" "0000304624" "00000150" "90" "6049" "0" "6049" "0" "c.6049C>T" "r.(?)" "p.(Arg2017Trp)" "" "0000304625" "00000150" "90" "6107" "0" "6107" "0" "c.6107G>T" "r.(?)" "p.(Gly2036Val)" "" "0000304626" "00000150" "50" "6152" "-14" "6152" "-14" "c.6152-14G>A" "r.(=)" "p.(=)" "" "0000304627" "00000150" "50" "6178" "0" "6178" "0" "c.6178C>G" "r.(?)" "p.(Leu2060Val)" "" "0000304628" "00000150" "50" "6280" "0" "6280" "0" "c.6280G>C" "r.(?)" "p.(Glu2094Gln)" "" "0000304629" "00000150" "90" "6310" "0" "6310" "0" "c.6310C>T" "r.(?)" "p.(Gln2104Ter)" "" "0000304630" "00000150" "90" "6344" "0" "6344" "0" "c.6344dup" "r.(?)" "p.(Glu2116GlyfsTer5)" "" "0000304631" "00000150" "30" "6444" "0" "6444" "0" "c.6444T>C" "r.(?)" "p.(Asn2148=)" "" "0000304632" "00000150" "90" "6454" "0" "6454" "0" "c.6454C>T" "r.(?)" "p.(Arg2152Ter)" "" "0000304633" "00000150" "30" "6522" "0" "6522" "0" "c.6522C>T" "r.(?)" "p.(Phe2174=)" "" "0000304634" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "" "0000304635" "00000150" "10" "6782" "0" "6782" "0" "c.6782T>C" "r.(?)" "p.(Met2261Thr)" "" "0000304637" "00000150" "30" "6887" "0" "6887" "0" "c.6887T>C" "r.(?)" "p.(Val2296Ala)" "" "0000304638" "00000150" "10" "6903" "0" "6903" "0" "c.6903G>C" "r.(?)" "p.(Gly2301=)" "" "0000304639" "00000150" "90" "7573" "0" "7573" "0" "c.7573del" "r.(?)" "p.(Asp2525ThrfsTer53)" "" "0000304640" "00000150" "10" "7636" "0" "7636" "0" "c.7636G>A" "r.(?)" "p.(Ala2546Thr)" "" "0000304641" "00000150" "30" "7850" "0" "7850" "0" "c.7850T>C" "r.(?)" "p.(Leu2617Ser)" "" "0000330760" "00000150" "30" "298" "0" "298" "0" "c.298C>A" "r.(?)" "p.(Pro100Thr)" "" "0000330761" "00000150" "30" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Val203Ile)" "" "0000330762" "00000150" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Ile341Val)" "" "0000330763" "00000150" "50" "2465" "0" "2465" "0" "c.2465C>G" "r.(?)" "p.(Ser822Cys)" "" "0000330765" "00000150" "50" "5720" "0" "5720" "0" "c.5720T>C" "r.(?)" "p.(Ile1907Thr)" "" "0000330766" "00000150" "50" "6464" "-8" "6464" "-8" "c.6464-8G>T" "r.(=)" "p.(=)" "" "0000330767" "00000150" "50" "6464" "-5" "6464" "-5" "c.6464-5T>C" "r.spl?" "p.?" "" "0000330768" "00000150" "50" "7367" "0" "7367" "0" "c.7367T>C" "r.(?)" "p.(Met2456Thr)" "" "0000330769" "00000150" "30" "7850" "0" "7850" "0" "c.7850T>C" "r.(?)" "p.(Leu2617Ser)" "" "0000337362" "00000150" "30" "6259" "-6" "6259" "-6" "c.6259-6C>G" "r.(=)" "p.(=)" "" "0000339547" "00000150" "10" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Cys494=)" "" "0000339548" "00000150" "10" "2556" "0" "2556" "0" "c.2556A>G" "r.(?)" "p.(Ile852Met)" "" "0000339549" "00000150" "10" "3705" "0" "3705" "0" "c.3705T>C" "r.(?)" "p.(Asn1235=)" "" "0000339550" "00000150" "10" "6829" "0" "6829" "0" "c.6829T>C" "r.(?)" "p.(Leu2277=)" "" "0000339551" "00000150" "10" "6903" "0" "6903" "0" "c.6903G>C" "r.(?)" "p.(Gly2301=)" "" "0000339552" "00000150" "30" "7908" "0" "7908" "0" "c.7908C>T" "r.(?)" "p.(Leu2636=)" "" "0000341095" "00000150" "10" "3106" "0" "3106" "0" "c.3106G>C" "r.(?)" "p.(Ala1036Pro)" "" "0000341303" "00000150" "10" "7636" "0" "7636" "0" "c.7636G>A" "r.(?)" "p.(Ala2546Thr)" "" "0000341558" "00000150" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "" "0000344619" "00000150" "90" "5572" "0" "5572" "0" "c.5572C>T" "r.(?)" "p.(Gln1858Ter)" "" "0000347039" "00000150" "30" "7708" "0" "7708" "0" "c.7708C>T" "r.(?)" "p.(Leu2570Phe)" "" "0000347054" "00000150" "50" "7993" "0" "7993" "0" "c.7993C>T" "r.(?)" "p.(Leu2665Phe)" "" "0000347055" "00000150" "50" "8041" "0" "8041" "0" "c.8041C>T" "r.(?)" "p.(Leu2681Phe)" "" "0000347778" "00000150" "10" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "" "0000347779" "00000150" "10" "6782" "0" "6782" "0" "c.6782T>C" "r.(?)" "p.(Met2261Thr)" "" "0000348833" "00000150" "30" "6538" "0" "6538" "0" "c.6538A>G" "r.(?)" "p.(Ser2180Gly)" "" "0000348885" "00000150" "30" "7952" "0" "7952" "0" "c.7952C>T" "r.(?)" "p.(Ser2651Phe)" "" "0000348887" "00000150" "50" "7991" "0" "7991" "0" "c.7991C>T" "r.(?)" "p.(Ser2664Phe)" "" "0000349151" "00000150" "10" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Ser726Pro)" "" "0000350248" "00000150" "30" "3418" "0" "3418" "0" "c.3418G>C" "r.(?)" "p.(Val1140Leu)" "" "0000350609" "00000150" "10" "2647" "0" "2647" "0" "c.2647A>C" "r.(?)" "p.(Lys883Gln)" "" "0000350980" "00000150" "50" "6152" "-14" "6152" "-14" "c.6152-14G>A" "r.(=)" "p.(=)" "" "0000356913" "00000150" "70" "6398" "0" "6398" "0" "c.6398G>C" "r.(?)" "p.(Cys2133Ser)" "" "0000525256" "00000150" "50" "243" "0" "243" "0" "c.243G>C" "r.(?)" "p.(Met81Ile)" "" "0000525257" "00000150" "30" "395" "0" "395" "0" "c.395G>C" "r.(?)" "p.(Cys132Ser)" "" "0000525260" "00000150" "50" "757" "0" "757" "0" "c.757C>G" "r.(?)" "p.(Leu253Val)" "" "0000525261" "00000150" "50" "886" "0" "886" "0" "c.886C>A" "r.(?)" "p.(Pro296Thr)" "" "0000525263" "00000150" "90" "1801" "0" "1801" "0" "c.1801A>T" "r.(?)" "p.(Lys601Ter)" "" "0000525265" "00000150" "10" "1840" "0" "1840" "0" "c.1840G>T" "r.(?)" "p.(Val614Leu)" "" "0000525266" "00000150" "10" "1840" "0" "1840" "0" "c.1840G>T" "r.(?)" "p.(Val614Leu)" "" "0000525267" "00000150" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "" "0000525268" "00000150" "30" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "" "0000525269" "00000150" "10" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "" "0000525271" "00000150" "30" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000525272" "00000150" "30" "2835" "0" "2835" "0" "c.2835T>C" "r.(?)" "p.(Ser945=)" "" "0000525273" "00000150" "30" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Lys954Thr)" "" "0000525274" "00000150" "30" "2914" "0" "2914" "0" "c.2914A>G" "r.(?)" "p.(Thr972Ala)" "" "0000525275" "00000150" "30" "3106" "0" "3106" "0" "c.3106G>C" "r.(?)" "p.(Ala1036Pro)" "" "0000525276" "00000150" "90" "3131" "0" "3132" "0" "c.3131_3132insGA" "r.(?)" "p.(Asn1044LysfsTer6)" "" "0000525277" "00000150" "30" "3215" "0" "3215" "0" "c.3215G>A" "r.(?)" "p.(Arg1072Gln)" "" "0000525278" "00000150" "50" "3484" "0" "3484" "0" "c.3484C>A" "r.(?)" "p.(Arg1162Ser)" "" "0000525279" "00000150" "10" "3796" "21" "3796" "21" "c.3796+21dup" "r.(=)" "p.(=)" "" "0000525280" "00000150" "30" "4303" "-8" "4303" "-8" "c.4303-8A>G" "r.(=)" "p.(=)" "" "0000525281" "00000150" "90" "4358" "0" "4358" "0" "c.4358dup" "r.(?)" "p.(Tyr1453Ter)" "" "0000525282" "00000150" "30" "4520" "0" "4520" "0" "c.4520C>T" "r.(?)" "p.(Thr1507Met)" "" "0000525283" "00000150" "10" "4564" "0" "4564" "0" "c.4564G>T" "r.(?)" "p.(Asp1522Tyr)" "" "0000525284" "00000150" "30" "4641" "6" "4641" "6" "c.4641+6G>A" "r.(=)" "p.(=)" "" "0000525285" "00000150" "30" "4765" "7" "4765" "7" "c.4765+7T>C" "r.(=)" "p.(=)" "" "0000525286" "00000150" "50" "4766" "-7" "4766" "-7" "c.4766-7T>G" "r.(=)" "p.(=)" "" "0000525288" "00000150" "10" "5147" "-71" "5147" "-70" "c.5147-71_5147-70dup" "r.(=)" "p.(=)" "" "0000525289" "00000150" "90" "5296" "0" "5296" "0" "c.5296C>T" "r.(?)" "p.(Arg1766Ter)" "" "0000525290" "00000150" "70" "5741" "0" "5741" "0" "c.5741G>T" "r.(?)" "p.(Arg1914Leu)" "" "0000525292" "00000150" "50" "5988" "0" "5988" "0" "c.5988C>G" "r.(?)" "p.(Phe1996Leu)" "" "0000525293" "00000150" "30" "6259" "-8" "6259" "-8" "c.6259-8A>T" "r.(=)" "p.(=)" "" "0000525295" "00000150" "90" "6349" "0" "6349" "0" "c.6349C>T" "r.(?)" "p.(Arg2117Ter)" "" "0000525296" "00000150" "70" "6361" "0" "6361" "0" "c.6361T>C" "r.(?)" "p.(Cys2121Arg)" "" "0000525297" "00000150" "30" "6441" "0" "6441" "0" "c.6441C>A" "r.(?)" "p.(Leu2147=)" "" "0000525298" "00000150" "30" "6750" "0" "6750" "0" "c.6750G>A" "r.(?)" "p.(Met2250Ile)" "" "0000525299" "00000150" "30" "6782" "0" "6782" "0" "c.6782T>C" "r.(?)" "p.(Met2261Thr)" "" "0000525300" "00000150" "30" "7401" "0" "7401" "0" "c.7401G>A" "r.(?)" "p.(Glu2467=)" "" "0000525301" "00000150" "70" "7482" "0" "7482" "0" "c.7482del" "r.(?)" "p.(Ser2494ArgfsTer84)" "" "0000525302" "00000150" "30" "7576" "0" "7576" "0" "c.7576C>T" "r.(?)" "p.(Pro2526Ser)" "" "0000525303" "00000150" "30" "7636" "0" "7636" "0" "c.7636G>A" "r.(?)" "p.(Ala2546Thr)" "" "0000525305" "00000150" "30" "15380" "0" "15380" "0" "c.*7289T>C" "r.(=)" "p.(=)" "" "0000604252" "00000150" "50" "4570" "0" "4570" "0" "c.4570G>A" "r.(?)" "p.(Gly1524Arg)" "" "0000604274" "00000150" "90" "1007" "0" "1007" "0" "c.1007G>A" "r.0" "p.0" "3" "0000604275" "00000150" "90" "2587" "0" "2587" "0" "c.2587G>T" "r.(?)" "p.(Glu863*)" "5" "0000604574" "00000150" "90" "2954" "0" "2955" "0" "c.2954_2955del" "r.(?)" "p.(Ser985Cysfs*25)" "5" "0000604575" "00000150" "90" "1527" "0" "1527" "0" "c.1527del" "r.(?)" "p.(Ser510Valfs*2)" "5" "0000604579" "00000150" "90" "4217" "0" "4220" "0" "c.4217_4220del" "r.(?)" "p.(Arg1406Asnfs*12)" "8" "0000609637" "00000150" "50" "-29" "0" "-29" "0" "c.-29del" "r.(?)" "p.(=)" "" "0000609638" "00000150" "30" "2746" "0" "2746" "0" "c.2746G>A" "r.(?)" "p.(Asp916Asn)" "" "0000609639" "00000150" "30" "3330" "0" "3330" "0" "c.3330C>T" "r.(?)" "p.(Phe1110=)" "" "0000609640" "00000150" "50" "5501" "0" "5501" "0" "c.5501A>T" "r.(?)" "p.(Tyr1834Phe)" "" "0000609641" "00000150" "30" "5781" "0" "5781" "0" "c.5781C>G" "r.(?)" "p.(Ala1927=)" "" "0000609642" "00000150" "90" "6088" "0" "6089" "0" "c.6088_6089del" "r.(?)" "p.(Gln2030GlufsTer17)" "" "0000609643" "00000150" "90" "6443" "0" "6443" "0" "c.6443del" "r.(?)" "p.(Asn2148IlefsTer2)" "" "0000609644" "00000150" "30" "7388" "0" "7388" "0" "c.7388C>T" "r.(?)" "p.(Pro2463Leu)" "" "0000621535" "00000150" "50" "344" "0" "344" "0" "c.344C>G" "r.(?)" "p.(Ser115Cys)" "" "0000621536" "00000150" "30" "4966" "6" "4966" "6" "c.4966+6G>A" "r.(=)" "p.(=)" "" "0000632003" "00000150" "90" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" "5" "0000632008" "00000150" "90" "3007" "0" "3007" "0" "c.3007A>T" "r.(?)" "p.(Arg1003*)" "5" "0000632013" "00000150" "90" "3028" "0" "3028" "0" "c.3028A>T" "r.(?)" "p.(Lys1010*)" "5" "0000632020" "00000150" "90" "3205" "0" "3205" "0" "c.3205C>T" "r.(?)" "p.(Gln1069*)" "5" "0000632022" "00000150" "90" "3394" "0" "3394" "0" "c.3394G>T" "r.(?)" "p.(Gly1132*)" "5" "0000632023" "00000150" "90" "3910" "0" "3910" "0" "c.3910C>T" "r.(?)" "p.(Gln1304*)" "6" "0000647198" "00000150" "50" "6010" "-3" "6010" "-3" "c.6010-3T>G" "r.(?)" "p.(?)" "" "0000647218" "00000150" "90" "4472" "0" "4472" "0" "c.4472C>A" "r.(?)" "p.(Ser1491*)" "10" "0000647219" "00000150" "90" "4660" "0" "4660" "0" "c.4660G>T" "r.(?)" "p.(Glu1554*)" "12" "0000647220" "00000150" "90" "4792" "0" "4792" "0" "c.4792C>T" "r.(?)" "p.(Gln1598*)" "13" "0000647221" "00000150" "90" "4810" "0" "4810" "0" "c.4810A>T" "r.(?)" "p.(Lys1604*)" "13" "0000647222" "00000150" "90" "4869" "0" "4869" "0" "c.4869C>A" "r.(?)" "p.(Tyr1623*)" "13" "0000647223" "00000150" "90" "5141" "0" "5141" "0" "c.5141C>G" "r.(?)" "p.(Ser1714*)" "14" "0000651667" "00000150" "30" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "" "0000651668" "00000150" "90" "2276" "0" "2276" "0" "c.2276C>G" "r.(?)" "p.(Ser759*)" "" "0000651669" "00000150" "90" "4057" "0" "4057" "0" "c.4057G>T" "r.(?)" "p.(Glu1353*)" "" "0000651670" "00000150" "90" "4753" "0" "4753" "0" "c.4753G>T" "r.(?)" "p.(Glu1585*)" "" "0000651671" "00000150" "90" "4907" "0" "4907" "0" "c.4907C>T" "r.(?)" "p.(Ser1636Phe)" "" "0000651672" "00000150" "90" "5141" "0" "5141" "0" "c.5141C>G" "r.(?)" "p.(Ser1714*)" "" "0000651674" "00000150" "90" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Gln1856*)" "" "0000651676" "00000150" "90" "6049" "0" "6049" "0" "c.6049C>T" "r.(?)" "p.(Arg2017Trp)" "" "0000651677" "00000150" "30" "7636" "0" "7636" "0" "c.7636G>A" "r.(?)" "p.(Ala2546Thr)" "" "0000653170" "00000150" "30" "2339" "0" "2339" "0" "c.2339C>T" "r.(?)" "p.(Ser780Leu)" "" "0000653420" "00000150" "70" "3530" "0" "3531" "0" "c.3530_3531insA" "r.(?)" "p.(Phe1177Leufs*2)" "" "0000655353" "00000150" "30" "3215" "0" "3215" "0" "c.3215G>A" "r.(?)" "p.(Arg1072Gln)" "" "0000655354" "00000150" "30" "7908" "0" "7908" "0" "c.7908C>T" "r.(?)" "p.(Leu2636=)" "" "0000659784" "00000150" "70" "3418" "0" "3419" "0" "c.3418_3419del" "r.(?)" "p.(Val1140Asnfs*4)" "" "0000660440" "00000150" "70" "6292" "0" "6292" "0" "c.6292A>T" "r.(?)" "p.(Lys2098*)" "" "0000663700" "00000150" "50" "5310" "0" "5310" "0" "c.5310G>C" "r.(?)" "p.(Trp1770Cys)" "" "0000667058" "00000150" "50" "2894" "0" "2894" "0" "c.2894C>G" "r.(?)" "p.(Ser965*)" "5" "0000667059" "00000150" "90" "4072" "0" "4072" "0" "c.4072C>T" "r.(?)" "p.(Gln1358*)" "8" "0000667060" "00000150" "50" "6316" "0" "6316" "0" "c.6316A>T" "r.(?)" "p.(Lys2106*)" "22" "0000667061" "00000150" "50" "6553" "0" "6553" "0" "c.6553C>T" "r.(?)" "p.(Gln2185*)" "23" "0000667199" "00000150" "90" "4672" "0" "4672" "0" "c.4672T>C" "r.(?)" "p.(Cys1558Arg)" "13" "0000667200" "00000150" "70" "4786" "0" "4786" "0" "c.4786T>G" "r.(?)" "p.(Cys1596Gly)" "13" "0000667253" "00000150" "50" "4832" "0" "4832" "0" "c.4832G>A" "r.(?)" "p.(Cys1611Tyr)" "13" "0000667338" "00000150" "70" "3344" "0" "3344" "0" "c.3344del" "r.(?)" "p.(Lys1115Serfs*26)" "5" "0000667349" "00000150" "70" "5370" "0" "5385" "0" "c.5370_5385del" "r.(?)" "p.(Asp1790Glufs*26)" "16" "0000667360" "00000150" "70" "4832" "0" "4832" "0" "c.4832G>A" "r.(?)" "p.(Cys1611Tyr)" "13" "0000667361" "00000150" "70" "4859" "0" "4859" "0" "c.4859T>A" "r.(?)" 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"p.(Leu1999Val)" "19" "0000667375" "00000150" "50" "6023" "0" "6023" "0" "c.6023A>G" "r.(?)" "p.(Asp2008Gly)" "20" "0000667376" "00000150" "50" "6037" "0" "6037" "0" "c.6037G>A" "r.(?)" "p.(Gly2013Arg)" "20" "0000667377" "00000150" "70" "6178" "0" "6178" "0" "c.6178C>G" "r.(?)" "p.(Leu2060Val)" "21" "0000667378" "00000150" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "21" "0000667379" "00000150" "50" "6308" "0" "6308" "0" "c.6308A>G" "r.(?)" "p.(Gln2103Arg)" "22" "0000667380" "00000150" "70" "6350" "0" "6350" "0" "c.6350G>T" "r.(?)" "p.(Arg2117Leu)" "22" "0000667381" "00000150" "50" "6372" "0" "6372" "0" "c.6372T>G" "r.(?)" "p.(Cys2124Trp)" "22" "0000667382" "00000150" "50" "6392" "0" "6392" "0" "c.6392T>A" "r.(?)" "p.(Val2131Asp)" "22" "0000667383" "00000150" "70" "6436" "0" "6436" "0" "c.6436T>G" "r.(?)" "p.(Cys2146Gly)" "22" "0000667384" "00000150" "50" "6438" "0" "6438" "0" "c.6438T>G" "r.(?)" "p.(Cys2146Trp)" "22" "0000667385" "00000150" "50" "6458" "0" "6458" "0" "c.6458C>A" "r.(?)" "p.(Pro2153Gln)" "22" "0000667386" "00000150" "50" "6532" "0" "6532" "0" "c.6532T>C" "r.(?)" "p.(Cys2178Arg)" "24" "0000667626" "00000150" "50" "2688" "0" "2689" "0" "c.2688_2689del" "r.(?)" "p.(Asn897Serfs*5)" "5" "0000667627" "00000150" "70" "2906" "0" "2906" "0" "c.2906del" "r.(?)" "p.(Gly969Glufs*71)" "5" "0000667628" "00000150" "70" "3344" "0" "3348" "0" "c.3344_3348del" "r.(?)" "p.(Lys1115Ilefs*2)" "5" "0000667629" "00000150" "70" "3585" "0" "3585" "0" "c.3585del" "r.(?)" "p.(Val1196Cysfs*23)" "5" "0000667630" "00000150" "70" "3629" "0" "3629" "0" "c.3629del" "r.(?)" "p.(Ser1210*)" "5" "0000667641" "00000150" "70" "3656" "0" "3657" "0" "c.3656_3657del" "r.(?)" "p.(Thr1219Argfs*6)" "5" "0000667642" "00000150" "70" "3778" "0" "3778" "0" "c.3778del" "r.(?)" "p.(Ala1260Leufs*49)" "5" "0000667931" "00000150" "70" "3820" "0" "3820" "0" "c.3820del" "r.(?)" "p.(Arg1275Glyfs*34)" "6" "0000667932" "00000150" "50" "4204" "0" "4204" "0" "c.4204del" "r.(?)" "p.(Ser1402Valfs*17)" "8" "0000667933" "00000150" "70" "4572" "0" "4572" "0" "c.4572del" "r.(?)" "p.(Met1525Cysfs*49)" "11" "0000667935" "00000150" "70" "5356" "0" "5360" "0" "c.5356_5360del" "r.(?)" "p.(Lys1786Glufs*3)" "16" "0000667936" "00000150" "70" "5166" "0" "5167" "0" "c.5166_5167del" "r.(?)" "p.(Cys1722*)" "15" "0000668148" "00000150" "70" "5654" "0" "5654" "0" "c.5654del" "r.(?)" "p.(Phe1885Serfs*23)" "18" "0000668149" "00000150" "70" "6184" "0" "6184" "0" "c.6184del" "r.(?)" "p.(Cys2062Valfs*22)" "21" "0000668150" "00000150" "70" "6303" "0" "6306" "0" "c.6303_6306del" "r.(?)" "p.(Lys2101Asnfs*48)" "22" "0000668151" "00000150" "70" "6313" "0" "6314" "0" "c.6313_6314del" "r.(?)" "p.(Gly2105Lysfs*7)" "22" "0000668152" "00000150" "70" "6358" "0" "6358" "0" "c.6358del" "r.(?)" "p.(Glu2120Serfs*30)" "22" "0000668199" "00000150" "50" "6541" "0" "6542" "0" "c.6541_6542delinsAA" "r.(?)" "p.(Ser2181Asn)" "23" "0000668200" "00000150" "70" "1222" "0" "1223" "0" "c.1222_1223insAA" "r.(?)" "p.(Gly408Glufs*12)" "4" "0000668201" "00000150" "70" "2151" "0" "2152" "0" "c.2151_2152insTA" "r.(?)" "p.(Ser718*)" "5" "0000668203" "00000150" "70" "2258" "0" "2259" "0" "c.2258_2259insTC" "r.(?)" "p.(Lys754Glnfs*15)" "5" "0000668204" "00000150" "70" "2482" "0" "2482" "0" "c.2482dup" "r.(?)" "p.(Ser828Phefs*2)" "6" "0000668205" "00000150" "70" "2648" "0" "2648" "0" "c.2648dup" "r.(?)" "p.(Pro884Alafs*12)" "5" "0000668206" "00000150" "70" "2833" "0" "2834" "0" "c.2833_2834insA" "r.(?)" "p.(Ser945Tyrfs*3)" "5" "0000668207" "00000150" "70" "3074" "0" "3074" "0" "c.3074dup" "r.(?)" "p.(Pro1026Alafs*21)" "5" "0000668208" "00000150" "70" "3767" "0" "3768" "0" "c.3767_3768insAT" "r.(?)" "p.(Thr1257*)" "5" "0000668209" "00000150" "70" "3910" "0" "3910" "0" "c.3910dup" "r.(?)" "p.(Gln1304Profs*10)" "6" "0000668210" "00000150" "70" "3965" "0" "3965" "0" "c.3965dup" "r.(?)" "p.(Ser1323Ilefs*2)" "7" "0000668211" "00000150" "70" "4210" "0" "4211" "0" "c.4210_4211insTT" "r.(?)" "p.(Arg1404Leufs*16)" "8" "0000668212" "00000150" "70" "4281" "0" "4282" "0" "c.4281_4282dup" "r.(?)" "p.(Asp1428Glyfs*19)" "8" "0000668213" "00000150" "70" "4455" "0" "4455" "0" "c.4455dup" "r.(?)" "p.(Val1486Serfs*4)" "10" "0000668214" "00000150" "70" "4954" "0" "4954" "0" "c.4954dup" "r.(?)" "p.(Ser1652Phefs*4)" "13" "0000668215" "00000150" "70" "5407" "0" "5410" "0" "c.5407_5410dup" "r.(?)" "p.(Tyr1804*)" "16" "0000668238" "00000150" "70" "5728" "0" "5729" "0" "c.5728_5729dup" "r.(?)" "p.(Cys1911Asnfs*59)" "18" "0000668239" "00000150" "70" "1086" "0" "1089" "0" "c.1086_1089del" "r.(?)" "p.(Gln363Thrfs*55)" "4" "0000668241" "00000150" "70" "1107" "0" "1107" "0" "c.1107del" "r.(?)" "p.(Phe369Leufs*50)" "4" "0000668242" "00000150" "70" "1216" "0" "1219" "0" "c.1216_1219del" "r.(?)" "p.(Glu406Lysfs*12)" "5" "0000668243" "00000150" "70" "1447" "0" "1447" "0" "c.1447del" "r.(?)" "p.(Ser483Leufs*29)" "5" "0000668244" "00000150" "70" "1576" "0" "1576" "0" "c.1576del" "r.(?)" "p.(Arg526Glyfs*10)" "5" "0000668245" "00000150" "70" "1633" "0" "1633" "0" "c.1633del" "r.(?)" "p.(Thr545Argfs*10)" "5" "0000668246" "00000150" "70" "1667" "0" "1685" "0" "c.1667_1685del" "r.(?)" "p.(Asn556Thrfs*37)" "6" "0000668247" "00000150" "70" "1981" "0" "1982" "0" "c.1981_1982del" "r.(?)" "p.(Ser661Cysfs*3)" "6" "0000668248" "00000150" "70" "2262" "0" "2263" "0" "c.2262_2263del" "r.(?)" "p.(Lys754Asnfs*10)" "5" "0000668249" "00000150" "70" "2435" "0" "2435" "0" "c.2435del" "r.(?)" "p.(Leu812*)" "5" "0000668267" "00000150" "70" "2487" "0" "2488" "0" "c.2487_2488del" "r.(?)" "p.(Ser830Trpfs*14)" "5" "0000668656" "00000150" "70" "4378" "4" "4378" "5" "c.4378+4_4378+5del" "r.spl?" "p.?" "10i" "0000668657" "00000150" "90" "5019" "0" "5020" "0" "c.5019_5020del" "r.(?)" "p.(Phe1673Leufs*12)" "15" "0000668658" "00000150" "70" "6452" "0" "6459" "0" "c.6452_6459del" "r.(?)" "p.(Lys2151Serfs*12)" "22" "0000668659" "00000150" "70" "6461" "0" "6461" "0" "c.6461del" "r.(?)" "p.(Ala2154Glufs*140)" "22" "0000668660" "00000150" "70" "1662" "0" "1663" "0" "c.1662_1663delinsC" "r.(?)" "p.(Ala555Glnfs*44)" "5" "0000668661" "00000150" "70" "4277" "0" "4278" "0" "c.4277_4278delinsT" "r.(?)" "p.(Lys1426Metfs*20)" "8" "0000668662" "00000150" "70" "5644" "0" "5655" "0" "c.5644_5655delinsTGTA" "r.(?)" "p.(Val1882Cysfs*7)" "18" "0000668663" "00000150" "70" "4378" "1" "4378" "1" "c.4378+1G>T" "r.spl" "p.?" "10i" "0000668664" "00000150" "50" "4967" "-37" "4967" "-34" "c.4967-37_4967-34del" "r.(?)" "p.(=)" "13i" "0000668665" "00000150" "90" "5622" "1" "5622" "1" "c.5622+1G>A" "r.spl" "p.?" "17i" "0000668668" "00000150" "70" "6258" "1" "6258" "1" "c.6258+1G>C" "r.spl" "p.?" "21i" "0000668669" "00000150" "70" "6259" "-2" "6259" "-2" "c.6259-2A>G" "r.spl" "p.?" "21i" "0000668670" "00000150" "70" "2701" "0" "2701" "0" "c.2701dup" "r.(?)" "p.(Ile901Asnfs*2)" "5" "0000668671" "00000150" "70" "6047" "0" "6050" "0" "c.6047_6050dup" "r.(?)" "p.(Phe2018Serfs*12)" "20" "0000668672" "00000150" "50" "521" "0" "521" "0" "c.521T>A" "r.(?)" "p.(Val174Asp)" "3" "0000668797" "00000150" "50" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Gln305Arg)" "2" "0000668798" "00000150" "50" "927" "5" "927" "5" "c.927+5G>A" "r.spl?" "p.?" "3i" "0000668799" "00000150" "50" "947" "0" "947" "0" "c.947C>A" "r.(?)" "p.(Ser316Tyr)" "3" "0000668800" "00000150" "50" "1236" "0" "1236" "0" "c.1236G>A" "r.(?)" "p.(=)" "4" "0000668801" "00000150" "50" "1601" "0" "1601" "0" "c.1601G>T" "r.(?)" "p.(Gly534Val)" "5" "0000668802" "00000150" "50" "3676" "0" "3676" "0" "c.3676T>C" "r.(?)" "p.(Cys1226Arg)" "6" "0000668803" "00000150" "50" "3728" "0" "3728" "0" "c.3728G>C" "r.(?)" "p.(Ser1243Thr)" "5" "0000668804" "00000150" "50" "5899" "0" "5899" "0" "c.5899T>C" "r.(?)" "p.(Phe1967Leu)" "19" "0000668805" "00000150" "50" "4302" "115" "4302" "115" "c.4302+115G>A" "r.(?)" "p.(=)" "8i" "0000668806" "00000150" "50" "4642" "-37" "4642" "-37" "c.4642-37A>G" "r.(?)" "p.(=)" "12i" "0000668807" "00000150" "50" "5304" "-20" "5304" "-20" "c.5304-20C>T" "r.(?)" "p.(=)" "15i" "0000668808" "00000150" "50" "4765" "13" "4765" "13" "c.4765+13T>A" "r.(?)" "p.(=)" "12i" "0000668809" "00000150" "50" "5460" "0" "5460" "0" "c.5460G>A" "r.(?)" "p.(=)" "16" "0000668810" "00000150" "50" "6699" "0" "6699" "0" "c.6699C>T" "r.(?)" "p.(=)" "23" "0000668811" "00000150" "50" "7500" "0" "7500" "0" "c.7500G>C" "r.(?)" "p.(Met2500Ile)" "5" "0000669841" "00000150" "30" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Ala691Thr)" "" "0000669842" "00000150" "30" "7636" "0" "7636" "0" "c.7636G>A" "r.(?)" "p.(Ala2546Thr)" "" "0000673893" "00000150" "70" "4875" "0" "4878" "0" "c.4875_4878del" "r.(?)" "p.(Thr1626Leufs*15)" "" "0000677475" "00000150" "30" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Pro651Ser)" "" "0000677476" "00000150" "30" "2420" "0" "2420" "0" "c.2420A>G" "r.(?)" "p.(Asn807Ser)" "" "0000677477" "00000150" "30" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Asp1103Asn)" "" "0000677478" "00000150" "30" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "" "0000683246" "00000150" "70" "2258" "0" "2259" "0" "c.2258_2259insTC" "r.(?)" "p.(Lys754Glnfs*15)" "5" "0000683247" "00000150" "70" "4455" "0" "4455" "0" "c.4455dup" "r.(?)" "p.(Val1486Serfs*4)" "10" "0000683248" "00000150" "50" "6541" "0" "6542" "0" "c.6541_6542delinsAA" "r.(?)" "p.(Ser2181Asn)" "23" "0000683249" "00000150" "70" "5019" "0" "5020" "0" "c.5019_5020delTT" "r.(?)" "p.(Phe1673Leufs*12)" "15" "0000683250" "00000150" "70" "4765" "13" "4765" "13" "c.4765+13T>A" "r.(?)" "p.(=)" "12i" "0000683251" "00000150" "50" "7500" "0" "7500" "0" "c.7500G>C" "r.(?)" "p.(Met2500Ile)" "5" "0000683256" "00000150" "50" "7500" "0" "7500" "0" "c.7500G>C" "r.(?)" "p.(Met2500Ile)" "5" "0000683257" "00000150" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Pro66Leu)" "" "0000683329" "00000150" "70" "3796" "1" "3796" "1" "c.3796+1G>A" "r.spl" "p.?" "" "0000683383" "00000150" "70" "3272" "0" "3272" "0" "c.3272T>G" "r.(?)" "p.(Leu1091Arg)" "" "0000683408" "00000150" "50" "1236" "2" "1236" "2" "c.1236+2T>G" "r.spl" "p.?" "4i" "0000683409" "00000150" "50" "1236" "2" "1236" "2" "c.1236+2T>G" "r.spl" "p.?" "4" "0000687733" "00000150" "70" "6344" "0" "6344" "0" "c.6344dup" "r.(?)" "p.(Glu2116Glyfs*5)" "" "0000689484" "00000150" "50" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Ala24Val)" "" "0000689485" "00000150" "30" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Trp)" "" "0000689486" "00000150" "10" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(Pro228Ala)" "" "0000689487" "00000150" "30" "4227" "0" "4227" "0" "c.4227T>C" "r.(?)" "p.(Thr1409=)" "" "0000694253" "00000150" "90" "1831" "0" "1831" "0" "c.1831C>T" "r.(?)" "p.(Arg611*)" "" "0000694254" "00000150" "90" "1845" "0" "1846" "0" "c.1845_1846del" "r.(?)" "p.(Cys615Trpfs*13)" "" "0000694255" "00000150" "90" "2100" "0" "2101" "0" "c.2100_2101del" "r.(?)" "p.(Lys701Alafs*4)" "" "0000694256" "00000150" "90" "3104" "0" "3104" "0" "c.3104C>G" "r.(?)" "p.(Ser1035*)" "" "0000694257" "00000150" "90" "3958" "0" "3958" "0" "c.3958C>T" "r.(?)" "p.(Arg1320*)" "" "0000694258" "00000150" "90" "4379" "-2" "4379" "-2" "c.4379-2A>G" "r.spl" "p.?" "" "0000694259" "00000150" "90" "5300" "0" "5300" "0" "c.5300dup" "r.(?)" "p.(Tyr1767*)" "" "0000694260" "00000150" "90" "5990" "0" "5990" "0" "c.5990A>G" "r.(?)" "p.(Tyr1997Cys)" "" "0000694261" "00000150" "90" "6605" "0" "6605" "0" "c.6605G>A" "r.(?)" "p.(Cys2202Tyr)" "" "0000694262" "00000150" "70" "6646" "0" "6646" "0" "c.6646G>A" "r.(?)" "p.(Gly2216Arg)" "" "0000698333" "00000150" "90" "3958" "0" "3958" "0" "c.3958C>T" "r.(?)" "p.(Arg1320* )" "7" "0000698334" "00000150" "70" "6557" "0" "6557" "0" "c.6557A>G" "r.(?)" "p.(His2186Arg)" "23" "0000704158" "00000150" "90" "3496" "0" "3496" "0" "c.3496del" "r.(?)" "p.(Arg1166Glyfs*9)" "" "0000720343" "00000150" "70" "2186" "0" "2186" "0" "c.2186dup" "r.(?)" "p.(Asn729Lysfs*4)" "" "0000720344" "00000150" "30" "2295" "0" "2295" "0" "c.2295C>T" "r.(?)" "p.(Asn765=)" "" "0000720345" "00000150" "30" "4605" "0" "4605" "0" "c.4605C>T" "r.(?)" "p.(Arg1535=)" "" "0000720346" "00000150" "70" "5741" "0" "5741" "0" "c.5741G>T" "r.(?)" "p.(Arg1914Leu)" "" "0000720347" "00000150" "90" "6014" "0" "6014" "0" "c.6014G>A" "r.(?)" "p.(Arg2005Gln)" "" "0000720348" "00000150" "70" "6587" "0" "6587" "0" "c.6587T>C" "r.(?)" "p.(Leu2196Pro)" "" "0000720349" "00000150" "30" "7057" "0" "7057" "0" "c.7057C>T" "r.(?)" "p.(Pro2353Ser)" "" "0000720350" "00000150" "30" "7908" "0" "7908" "0" "c.7908C>T" "r.(?)" "p.(Leu2636=)" "" "0000730031" "00000150" "90" "2058" "0" "2058" "0" "c.2058T>A" "r.(?)" "p.(Tyr686*)" "" "0000730032" "00000150" "90" "1893" "0" "1893" "0" "c.1893del" "r.(?)" "p.(Lys631Asnfs*22)" "" "0000730033" "00000150" "90" "1824" "0" "1824" "0" "c.1824del" "r.(?)" "p.(Lys608Asnfs*12)" "" "0000763195" "00000150" "90" "2058" "0" "2058" "0" "c.2058T>A" "r.(?)" "p.(Tyr686*)" "" "0000786967" "00000150" "90" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Ter)" "5" "0000786968" "00000150" "90" "1855" "0" "1855" "0" "c.1855del" "r.(?)" "p.(Val619Ter)" "5" "0000786969" "00000150" "90" "6010" "-2" "6010" "-2" "c.6010-2A>C" "r.spl" "p.?" "19i" "0000786970" "00000150" "90" "6049" "0" "6049" "0" "c.6049C>T" "r.(?)" "p.(Arg2017Trp)" "20" "0000787160" "00000150" "50" "6063" "0" "6063" "0" "c.6063T>G" "r.(?)" "p.(His2021Gln)" "20" "0000787342" "00000150" "50" "4754" "0" "4754" "0" "c.4754A>C" "r.(?)" "p.(Glu1585Ala)" "12" "0000787490" "00000150" "90" "1237" "0" "3797" "0" "c.(1236+1_1237-1)_(3796+1_3797-1)del" "r.?" "p.?" "4i_5i" "0000799909" "00000150" "70" "1482" "0" "1482" "0" "c.1482C>A" "r.(?)" "p.(Cys494*)" "5" "0000802039" "00000150" "30" "2450" "0" "2450" "0" "c.2450C>T" "r.(?)" "p.(Ser817Phe)" "" "0000802040" "00000150" "30" "3088" "0" "3088" "0" "c.3088T>C" "r.(?)" "p.(Leu1030=)" "" "0000802041" "00000150" "50" "3769" "0" "3769" "0" "c.3769A>C" "r.(?)" "p.(Thr1257Pro)" "" "0000802042" "00000150" "30" "7852" "0" "7852" "0" "c.7852G>A" "r.(?)" "p.(Val2618Ile)" "" "0000817705" "00000150" "70" "" "0" "" "0" "c.(?_-579)_(*1023_?)" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 329 "{{screeningid}}" "{{variantid}}" "0000000019" "0000001051" "0000000019" "0000001053" "0000000029" "0000001050" "0000000102" "0000001048" "0000000102" "0000001049" "0000000102" "0000001052" "0000024235" "0000046793" "0000036467" "0000063592" "0000036468" "0000063593" "0000036469" "0000063594" "0000036470" "0000063595" "0000036471" "0000063596" "0000036472" "0000063597" "0000050337" "0000079317" "0000050341" "0000079321" "0000050420" "0000079400" "0000081057" "0000130143" "0000081167" "0000130253" "0000081949" "0000134723" "0000101697" "0000164482" "0000101698" "0000164483" "0000101699" "0000164484" "0000101700" "0000164485" "0000101701" "0000164486" "0000101702" "0000164487" "0000101703" "0000164488" "0000101704" "0000164489" "0000101705" "0000164490" "0000101706" "0000164491" "0000101707" "0000164492" "0000101708" "0000164460" "0000101709" "0000164493" "0000101710" "0000164494" "0000101711" "0000164495" "0000101712" "0000164496" "0000101713" "0000164497" "0000101714" "0000164498" "0000101715" "0000164438" "0000101716" "0000164499" "0000101717" "0000164500" "0000101718" "0000164501" "0000101719" "0000164502" "0000101720" "0000164503" "0000101721" "0000164461" "0000101722" "0000164458" "0000101723" "0000164504" "0000101724" "0000164505" "0000101725" "0000164506" "0000101725" "0000164513" "0000101726" "0000164507" "0000101727" "0000164462" "0000101728" "0000164463" "0000101729" "0000164508" "0000101730" "0000164464" "0000101731" "0000164509" "0000101732" "0000164510" "0000101733" "0000164511" "0000101734" "0000164473" "0000101735" "0000164474" "0000101736" "0000164512" "0000101737" "0000164465" "0000101738" "0000164514" "0000101739" "0000164515" "0000101740" "0000164516" "0000101741" "0000164517" "0000101742" "0000164475" "0000101743" "0000164466" "0000101743" "0000164471" "0000101744" "0000164518" "0000101745" "0000164519" "0000101746" "0000164520" "0000101747" "0000164521" "0000101748" "0000164433" "0000101749" "0000164467" "0000101750" "0000164468" "0000101751" "0000164469" "0000101752" "0000164470" "0000101753" "0000164439" "0000101754" "0000164472" "0000101755" "0000164440" "0000101756" "0000164476" "0000101757" "0000164522" "0000101758" "0000164434" "0000101759" "0000164523" "0000101760" "0000164524" "0000101761" "0000164525" "0000101762" "0000164526" "0000101763" "0000164527" "0000101764" "0000164528" "0000101765" "0000164529" "0000101766" "0000164530" "0000101767" "0000164531" "0000101768" "0000164532" "0000101769" "0000164441" "0000101770" "0000164533" "0000101771" "0000164534" "0000101772" "0000164442" "0000101773" "0000164535" "0000101774" "0000164443" "0000101775" "0000164536" "0000101776" "0000164537" "0000101777" "0000164538" "0000101778" "0000164539" "0000101779" "0000164477" "0000101780" "0000164444" "0000101781" "0000164451" "0000101782" "0000164478" "0000101783" "0000164540" "0000101784" "0000164452" "0000101785" "0000164541" "0000101786" "0000164450" "0000101787" "0000164542" "0000101788" "0000164543" "0000101789" "0000164544" "0000101790" "0000164453" "0000101791" "0000164479" "0000101792" "0000164445" "0000101793" "0000164481" "0000101794" "0000164446" "0000101795" "0000164545" "0000101796" "0000164546" "0000101797" "0000164547" "0000101798" "0000164454" "0000101799" "0000164548" "0000101800" "0000164455" "0000101801" "0000164549" "0000101802" "0000164447" "0000101803" "0000164448" "0000101804" "0000164459" "0000101805" "0000164435" "0000101806" "0000164436" "0000101807" "0000164550" "0000101808" "0000164449" "0000101809" "0000164437" "0000101810" "0000164551" "0000101811" "0000164552" "0000101812" "0000164553" "0000101813" "0000164554" "0000101814" "0000164555" "0000101815" "0000164556" "0000101816" "0000164557" "0000101817" "0000164456" "0000101818" "0000164480" "0000101819" "0000164457" "0000147981" "0000241263" "0000155830" "0000356913" "0000270490" "0000604252" "0000270512" "0000604274" "0000270513" "0000604275" "0000270751" "0000604574" "0000270752" "0000604575" "0000270754" "0000604579" "0000277238" "0000632003" "0000277241" "0000632008" "0000277245" "0000632013" "0000277253" "0000632020" "0000277255" "0000632022" "0000277256" "0000632023" "0000290517" "0000647198" "0000290535" "0000647218" "0000290536" "0000647219" "0000290537" "0000647220" "0000290538" "0000647221" "0000290539" "0000647222" "0000290540" "0000647223" "0000294978" "0000651667" "0000294979" "0000651668" "0000294980" "0000651669" "0000294981" "0000651670" "0000294982" "0000651671" "0000294983" "0000651672" "0000294985" "0000651674" "0000294987" "0000651676" "0000294988" "0000651677" "0000296481" "0000653170" "0000296722" "0000653420" "0000297159" "0000659784" "0000297777" "0000660440" "0000300802" "0000663700" "0000303692" "0000667058" "0000303693" "0000667059" "0000303694" "0000667060" "0000303695" "0000667061" "0000303804" "0000667199" "0000303805" "0000667200" "0000303850" "0000667253" "0000303949" "0000667338" "0000303960" "0000667349" "0000303970" "0000667360" "0000303971" "0000667361" "0000303972" "0000667362" "0000303972" "0000667363" "0000303973" "0000667364" "0000303974" "0000667365" "0000303975" "0000667366" "0000303977" "0000667368" "0000303978" "0000667369" "0000303979" "0000667371" "0000303982" "0000667372" "0000303983" "0000667373" "0000303984" "0000667375" "0000303985" "0000667376" "0000303986" "0000667377" "0000303987" "0000667378" "0000303988" "0000667379" "0000303989" "0000667380" "0000303990" "0000667381" "0000303991" "0000667382" "0000303992" "0000667383" "0000303993" "0000667384" "0000303994" "0000667385" "0000303995" "0000667386" "0000304207" "0000667626" "0000304208" "0000667627" "0000304209" "0000667628" "0000304210" "0000667629" "0000304211" "0000667630" "0000304216" "0000667641" "0000304217" "0000667642" "0000304489" "0000667931" "0000304491" "0000667932" "0000304492" "0000667933" "0000304493" "0000667935" "0000304494" "0000667936" "0000304650" "0000668148" "0000304651" "0000668149" "0000304652" "0000668150" "0000304653" "0000668151" "0000304654" "0000668152" "0000304695" "0000668199" "0000304697" "0000668200" "0000304698" "0000668201" "0000304699" "0000668203" "0000304700" "0000668204" "0000304701" "0000668205" "0000304702" "0000668206" "0000304703" "0000668207" "0000304704" "0000668208" "0000304705" "0000668209" "0000304706" "0000668210" "0000304707" "0000668211" "0000304708" "0000668212" "0000304709" "0000668213" "0000304710" "0000668214" "0000304711" "0000668215" "0000304734" "0000668238" "0000304735" "0000668239" "0000304736" "0000668241" "0000304737" "0000668242" "0000304738" "0000668243" "0000304739" "0000668244" "0000304740" "0000668245" "0000304741" "0000668246" "0000304742" "0000668247" "0000304743" "0000668248" "0000304744" "0000668249" "0000304745" "0000668267" "0000305093" "0000668656" "0000305094" "0000668657" "0000305095" "0000668658" "0000305096" "0000668659" "0000305097" "0000668660" "0000305098" "0000668661" "0000305099" "0000668662" "0000305100" "0000668663" "0000305101" "0000668664" "0000305102" "0000668665" "0000305103" "0000668668" "0000305106" "0000668669" "0000305107" "0000668670" "0000305108" "0000668671" "0000305109" "0000668672" "0000305110" "0000668797" "0000305111" "0000668798" "0000305112" "0000668799" "0000305113" "0000668800" "0000305114" "0000668801" "0000305115" "0000668802" "0000305116" "0000668803" "0000305117" "0000668804" "0000305118" "0000668805" "0000305119" "0000668806" "0000305120" "0000668807" "0000305121" "0000668808" "0000305122" "0000668809" "0000305123" "0000668810" "0000305124" "0000668811" "0000306153" "0000669841" "0000306154" "0000669842" "0000307291" "0000673893" "0000308814" "0000683246" "0000308815" "0000683247" "0000308816" "0000683248" "0000308817" "0000683249" "0000308818" "0000683250" "0000308819" "0000683251" "0000308824" "0000683256" "0000308825" "0000683257" "0000308895" "0000683329" "0000308949" "0000683383" "0000308966" "0000683408" "0000308967" "0000683409" "0000312180" "0000687733" "0000312649" "0000694253" "0000312650" "0000694254" "0000312651" "0000694255" "0000312652" "0000694256" "0000312653" "0000694257" "0000312654" "0000694258" "0000312655" "0000694259" "0000312656" "0000694260" "0000312657" "0000694261" "0000312658" "0000694262" "0000316183" "0000698333" "0000316184" "0000698334" "0000321329" "0000704158" "0000332749" "0000730031" "0000332750" "0000730032" "0000332751" "0000730033" "0000362821" "0000763195" "0000375540" "0000787490" "0000375616" "0000786967" "0000375617" "0000786968" "0000375618" "0000786969" "0000375619" "0000786970" "0000375809" "0000787160" "0000375991" "0000787342" "0000384184" "0000799909" "0000388907" "0000817705"