### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MLL3) # 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}}" "MLL3" "myeloid/lymphoid or mixed-lineage leukemia 3" "7" "q36" "unknown" "NC_000007.13" "UD_133490740544" "" "https://www.LOVD.nl/KMT2C" "" "1" "13726" "58508" "606833" "1" "1" "1" "1" "NOTE: gene name changed from MLL3 to KMT2C\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from MLL3 to KMT2C" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-25 10:38:46" "00000" "2025-07-24 17:04:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00013684" "MLL3" "myeloid/lymphoid or mixed-lineage leukemia 3" "001" "NM_170606.2" "" "NP_733751.2" "" "" "" "-219" "16643" "14736" "152133090" "151832010" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00668" "KLEFS" "Kleefstra syndrome (KLEFS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05770" "KLEFS2" "Kleefstra syndrome, type 2 (KLEFS2)" "AD" "617768" "" "developmental delay, intellectual disability, behavioral and psychiatric problems, hypotonia, seizures, short stature" "" "00006" "2020-06-12 11:39:49" "00006" "2024-08-15 19:32:11" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MLL3" "00668" "MLL3" "05770" ## Individuals ## Do not remove or alter this header ## ## Count = 144 "{{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}}" "00311423" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat2;Pat7" "00311424" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat3;Pat8" "00311425" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat4;Pat9" "00311968" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311969" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311970" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311971" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311972" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311973" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311974" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311975" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311976" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311977" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311978" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311979" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311980" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311981" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312048" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER263913" "00312049" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER296318" "00312050" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER250027" "00312051" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER328097" "00312052" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER267620" "00312053" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER323045" "00312054" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER2517" "00312055" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER321961" "00312056" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER1671" "00312057" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER323717" "00312058" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER289059" "00312059" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER280475" "00312060" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER322282" "00312061" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER277910" "00312062" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER260056" "00312063" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER297575" "00312064" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER303841" "00312065" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER255286" "00312066" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER333386" "00312067" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER286232" "00312068" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER2345" "00312069" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER250256" "00312070" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER322646" "00312071" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER289790" "00312072" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER252404" "00312073" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER250157" "00312074" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER265558" "00312075" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER251692" "00312076" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER251739" "00312077" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER251763" "00312078" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER2223" "00312079" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER332394" "00312080" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER308731" "00312081" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER271204" "00312082" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER259664" "00312083" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER256153" "00312084" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER798" "00312085" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER254958" "00312086" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER258344" "00312087" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER307976" "00312088" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER920" "00391855" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "215P" "00398614" "" "" "" "1" "" "01164" "" "prenatal trio-exom" "M" "no" "(Spain)" "" "0" "" "" "" "190753" "00438316" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat34" "00438317" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat35" "00438389" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat108" "00453015" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2012:22726846}, {PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "2-generation family, 1 affected, unaffected non carrier mother" "F" "" "" "" "0" "" "" "" "KS113;?;Pat1" "00453019" "" "" "" "1" "" "00006" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat1:Pat2" "00453020" "" "" "" "1" "" "00006" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat2:pat3" "00453021" "" "" "" "1" "" "00006" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat3;Pat4" "00453022" "" "" "" "1" "" "00006" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat4;Pat5" "00453023" "" "" "" "1" "" "00006" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat5;Pat6" "00453054" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat10" "00453055" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat11" "00453056" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat12" "00453057" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat13" "00453058" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat14" "00453059" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat15" "00453060" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat16" "00453061" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat17" "00453062" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat18" "00453063" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat19" "00453064" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat20" "00453065" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat21" "00453066" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat22" "00453067" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat23" "00453068" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat24" "00453069" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat25" "00453070" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat26" "00453071" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat27" "00453072" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat28" "00453073" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat29" "00453074" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat30" "00453075" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat31" "00453076" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat32" "00453077" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat33" "00453078" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat34" "00453079" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat35" "00453080" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat36" "00453081" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat37" "00453082" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat38" "00453083" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat39" "00453084" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat40" "00453085" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat41" "00453086" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat42" "00453087" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat43" "00453088" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat44" "00453089" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat45" "00453090" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat46" "00453091" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat47" "00453092" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat48" "00453093" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat49" "00453094" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat50" "00453095" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat51" "00453096" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat52" "00453097" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat53" "00453098" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat54" "00453099" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat55" "00453100" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat56" "00453101" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat57" "00453102" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat58" "00453103" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat59" "00453104" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat60" "00453105" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat61" "00453106" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat62" "00453107" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat63" "00453108" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat64" "00453109" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat65" "00453110" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat66" "00453111" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat67" "00453112" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat68" "00453113" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat69" "00453114" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat70" "00453115" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat71" "00453116" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat72" "00453117" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat73" "00453118" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat74" "00453119" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat75" "00453120" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat76" "00453121" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat77" "00453122" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat78" "00453123" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat79" "00453124" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat80" "00453125" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat81" "00458009" "" "" "" "1" "" "00006" "{PMID:Peng 2017:29040572}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat3" "00458529" "" "" "" "1" "" "01164" "" "" "F" "?" "Turkey" "" "0" "" "" "" "313255" "00461044" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 144 "{{individualid}}" "{{diseaseid}}" "00311423" "05611" "00311424" "05611" "00311425" "05611" "00311968" "00198" "00311969" "00198" "00311970" "00198" "00311971" "00198" "00311972" "00198" "00311973" "00198" "00311974" "00198" "00311975" "00198" "00311976" "00198" "00311977" "00198" "00311978" "00198" "00311979" "00198" "00311980" "00198" "00311981" "00198" "00312048" "00198" "00312049" "00198" "00312050" "00198" "00312051" "00198" "00312052" "00198" "00312053" "00198" "00312054" "00198" "00312055" "00198" "00312056" "00198" "00312057" "00198" "00312058" "00198" "00312059" "00198" "00312060" "00198" "00312061" "00198" "00312062" "00198" "00312063" "00198" "00312064" "00198" "00312065" "00198" "00312066" "00198" "00312067" "00198" "00312068" "00198" "00312069" "00198" "00312070" "00198" "00312071" "00198" "00312072" "00198" "00312073" "00198" "00312074" "00198" "00312075" "00198" "00312076" "00198" "00312077" "00198" "00312078" "00198" "00312079" "00198" "00312080" "00198" "00312081" "00198" "00312082" "00198" "00312083" "00198" "00312084" "00198" "00312085" "00198" "00312086" "00198" "00312087" "00198" "00312088" "00198" "00391855" "05770" "00398614" "05770" "00438316" "04270" "00438317" "04270" "00438389" "04270" "00453015" "00668" "00453019" "00668" "00453020" "00668" "00453021" "00668" "00453022" "00668" "00453023" "00668" "00453054" "05611" "00453055" "05611" "00453056" "05611" "00453057" "05611" "00453058" "05611" "00453059" "05611" "00453060" "05611" "00453061" "05611" "00453062" "05611" "00453063" "05611" "00453064" "05611" "00453065" "05611" "00453066" "05611" "00453067" "05611" "00453068" "05611" "00453069" "05611" "00453070" "05611" "00453071" "05611" "00453072" "05611" "00453073" "05611" "00453074" "05611" "00453075" "05611" "00453076" "05611" "00453077" "05611" "00453078" "05611" "00453079" "05611" "00453080" "05611" "00453081" "05611" "00453082" "05611" "00453083" "05611" "00453084" "05611" "00453085" "05611" "00453086" "05611" "00453087" "05611" "00453088" "05611" "00453089" "05611" "00453090" "05611" "00453091" "05611" "00453092" "05611" "00453093" "05611" "00453094" "05611" "00453095" "05611" "00453096" "05611" "00453097" "05611" "00453098" "05611" "00453099" "05611" "00453100" "05611" "00453101" "05611" "00453102" "05611" "00453103" "05611" "00453104" "05611" "00453105" "05611" "00453106" "05611" "00453107" "05611" "00453108" "05611" "00453109" "05611" "00453110" "05611" "00453111" "05611" "00453112" "05611" "00453113" "05611" "00453114" "05611" "00453115" "05611" "00453116" "05611" "00453117" "05611" "00453118" "05611" "00453119" "05611" "00453120" "05611" "00453121" "05611" "00453122" "05611" "00453123" "05611" "00453124" "05611" "00453125" "05611" "00458009" "00198" "00458529" "05770" "00461044" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00668, 04270, 05611, 05770 ## Count = 128 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000236670" "05611" "00311423" "00006" "Isolated (sporadic)" "17y" "no perinatal history; severe developmental delay/intellectual disability; elective mutism; duplicated right thumb, left preauricular tag; short stature (SD -2.1), low weight (SD -2.74), microcephaly (SD -2.42); craniofacial dysmorphisms; hearing loss, delayed puberty" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000236671" "05611" "00311424" "00006" "Isolated (sporadic)" "4y" "hydrocephalus, Dandy-Walker anomaly; severe developmental delay/intellectual disability; hydrocephalus, hypoplasia of cerebellar vermis; no malformation/anomalies; short stature (SD -2), low weight (SD -2), microcephaly (SD -1.97); craniofacial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000236672" "05611" "00311425" "00006" "Isolated (sporadic)" "5y" "no perinatal history; severe developmental delay/intellectual disability, mild motor delay; autistic traits, developmental regression, insensitivity to pain, abnormal gait; no malformation/anomalies; normal stature (SD 0.4), normal weight (SD 0.18), OFC normal (SD -1); craniofacial dysmorphisms; constipation" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000237177" "00198" "00312048" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237178" "00198" "00312049" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237179" "00198" "00312050" "00006" "Unknown" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237180" "00198" "00312051" "00006" "Unknown" "" "hypermetropia, congenital microcephaly, moderate global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237181" "00198" "00312052" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237182" "00198" "00312053" "00006" "Unknown" "" "hypospadias, autistic behaviour, moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237183" "00198" "00312054" "00006" "Unknown" "" "choanal atresia, coloboma, iris coloboma, microphthalmia, intra-uterine growth retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237184" "00198" "00312055" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237185" "00198" "00312056" "00006" "Unknown" "" "arrhythmia, peripheral arterial stenosis, abnormality helix, posteriorly rotated ears, hypertelorism, renal dysplasia, vesicoureteral reflux, depressed nasal bridge, epicanthus, malar flattening, coarse hair, generalized hirsutism, intellectual disability, sleep disturbance" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237186" "00198" "00312057" "00006" "Unknown" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237187" "00198" "00312058" "00006" "Unknown" "" "autism, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237188" "00198" "00312059" "00006" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237189" "00198" "00312060" "00006" "Unknown" "" "patent ductus arteriosus, ventricular septal defect, disproportionate short-limb short stature, oral cleft" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237190" "00198" "00312061" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237191" "00198" "00312062" "00006" "Unknown" "" "ventricular septal defect, microcephaly, intellectual disability, short attention span" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237192" "00198" "00312063" "00006" "Unknown" "" "inguinal hernia, displacement external urethral meatus, hypospadias, short stature, microcephaly, multiple exostoses, global developmental delay, abnormality lumbar spine" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237193" "00198" "00312064" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237194" "00198" "00312065" "00006" "Unknown" "" "proportionate short stature, microcephaly, prominent fingertip pads, clinodactyly 5th finger, overlapping toe, muscular hypotonia, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237195" "00198" "00312066" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237196" "00198" "00312067" "00006" "Unknown" "" "growth delay, oligohydramnios" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237197" "00198" "00312068" "00006" "Unknown" "" "abnormality pinna, abnormality ureter, feeding difficulties in infancy, flexion contracture, inguinal hernia, sensorineural hearing impairment, urethral valve" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237198" "00198" "00312069" "00006" "Unknown" "" "hypotelorism, strabismus, proportionate short stature, microcephaly, short palm, intellectual disability, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237199" "00198" "00312070" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237200" "00198" "00312071" "00006" "Unknown" "" "hypertelorism, unilateral ptosis, short stature, brachycephaly, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237201" "00198" "00312072" "00006" "Unknown" "" "hypospadias, abnormality face, cerebellar hemisphere hypoplasia, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237202" "00198" "00312073" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237203" "00198" "00312074" "00006" "Unknown" "" "wide intermamillary distance, gastroesophageal reflux, nasogastric tube feeding in infancy, moderate sensorineural hearing impairment, duplicated collecting system, postnatal growth retardation, congenital microcephaly, micrognathia, bimanual synkinesia, severe global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237204" "00198" "00312075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237205" "00198" "00312076" "00006" "Unknown" "" "primary amenorrhea, abnormality face, delayed speech and language development, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237206" "00198" "00312077" "00006" "Unknown" "" "abnormality face, autism, delayed speech and language development, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237207" "00198" "00312078" "00006" "Unknown" "" "microphthalmia, renal dysplasia, facial asymmetry, low posterior hairline, spotty hyperpigmentation" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237208" "00198" "00312079" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237209" "00198" "00312080" "00006" "Unknown" "" "anal atresia, microcephaly, global developmental delay, aplasia/hypoplasia sacrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237210" "00198" "00312081" "00006" "Unknown" "" "nasogastric tube feeding in infancy, deeply set eye, hypermetropia, strabismus, narrow mouth, central hypotonia, seizures, abnormality sacrum, long thorax" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237211" "00198" "00312082" "00006" "Unknown" "" "hypospadias, microcephaly, pulmonic stenosis, ventricular septal defect, visual impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237212" "00198" "00312083" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237213" "00198" "00312084" "00006" "Unknown" "" "strabismus, short stature, delayed speech and language development, intellectual disability, scoliosis, vertebral segmentation defect" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237214" "00198" "00312085" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237215" "00198" "00312086" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237216" "00198" "00312087" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237217" "00198" "00312088" "00006" "Unknown" "" "hypertelorism, optic atrophy, high palate, microcephaly, holoprosencephaly, hypoplasia corpus callosum, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000291701" "05770" "00398614" "01164" "Isolated (sporadic)" "" "Increased nuchal translucency (5,3 mm)" "" "" "" "" "" "" "" "" "" "" "" "SSW12+6" "" "0000328220" "04270" "00438316" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0200134 epileptic encephalopathy; HP:0007039 symmetric lesions of the basal ganglia" "2y" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328221" "04270" "00438317" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002342 intellectual disability, moderate" "9y" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328293" "04270" "00438389" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0200134 epileptic encephalopathy" "2y" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000341659" "00668" "00453015" "00006" "Isolated (sporadic)" "15y" "intellectual disability; childhood hypotonia; microcephaly; short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; no arched eyebrows; no short nose; no anteverted nostrils; no macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; pointed chin; dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); no seizures" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "Kleefstra syndrome phenotypic spectrum" "" "0000341663" "00668" "00453019" "00006" "Isolated (sporadic)" "29y" "moderate intellectual disability; language and motor delay; behavior problems, autistic traits; no childhood hypotonia; epilepsy; thoracal kyphosis; phenylketonuria; recurrent respiratory infections" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "Kleefstra syndrome phenotypic spectrum" "" "0000341664" "00668" "00453020" "00006" "Isolated (sporadic)" "31y" "imild ntellectual disability; language and motor delay; behavior problems, autism; no childhood hypotonia; no epilepsy; scoliosis; strabismus; cryptorchidism; brain MRI normal" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "Kleefstra syndrome phenotypic spectrum" "" "0000341665" "00668" "00453021" "00006" "Isolated (sporadic)" "15y" "moderate intellectual disability, IQ50; language and motor delay; behavior problems, PDD-NOS, ADHD; childhood hypotonia; no epilepsy; no scoliosis/kyphosis; bifid uvula; hypospadia; bilateral inguinal hernia; brain MRI normal" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "Kleefstra syndrome phenotypic spectrum" "" "0000341666" "00668" "00453022" "00006" "Isolated (sporadic)" "7y" "imild ntellectual disability, IS63; language and motor delay; behavior problems,autism, sleeping disorder; no childhood hypotonia; no epilepsy; no scoliosis/kyphosis; recurrent respiratory infections; dry skin; hoarse voice; brain MRI non-progressive enlarged extracerebral space" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "Kleefstra syndrome phenotypic spectrum" "" "0000341667" "00668" "00453023" "00006" "Isolated (sporadic)" "10y" "severe intellectual disability; language and motor delay; behavior problems, automutilation; childhood hypotonia; epilepsy; kyphosis; plagiocephaly" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "Kleefstra syndrome phenotypic spectrum" "" "0000341699" "05611" "00453054" "00006" "Familial" "13y8m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341700" "05611" "00453055" "00006" "Isolated (sporadic)" "9y8m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341701" "05611" "00453056" "00006" "Isolated (sporadic)" "7y7m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341702" "05611" "00453057" "00006" "Isolated (sporadic)" "18y5m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341703" "05611" "00453058" "00006" "Isolated (sporadic)" "21y3m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341704" "05611" "00453059" "00006" "Isolated (sporadic)" "3y9m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341705" "05611" "00453060" "00006" "Isolated (sporadic)" "1y10m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341706" "05611" "00453061" "00006" "Isolated (sporadic)" "14y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341707" "05611" "00453062" "00006" "Familial" "14y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341708" "05611" "00453063" "00006" "Isolated (sporadic)" "5y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341709" "05611" "00453064" "00006" "Isolated (sporadic)" "7y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341710" "05611" "00453065" "00006" "Familial" "21y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341711" "05611" "00453066" "00006" "Isolated (sporadic)" "33y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341712" "05611" "00453067" "00006" "Familial" "3y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341713" "05611" "00453068" "00006" "Isolated (sporadic)" "15y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341714" "05611" "00453069" "00006" "Isolated (sporadic)" "5y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341715" "05611" "00453070" "00006" "Isolated (sporadic)" "14y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341716" "05611" "00453071" "00006" "Isolated (sporadic)" "20y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341717" "05611" "00453072" "00006" "Unknown" "2y3m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341718" "05611" "00453073" "00006" "Isolated (sporadic)" "25y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341719" "05611" "00453074" "00006" "Isolated (sporadic)" "10y3m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341720" "05611" "00453075" "00006" "Isolated (sporadic)" "7y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341721" "05611" "00453076" "00006" "Isolated (sporadic)" "3y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341722" "05611" "00453077" "00006" "Isolated (sporadic)" "27y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341723" "05611" "00453078" "00006" "Isolated (sporadic)" "19y5m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341724" "05611" "00453079" "00006" "Isolated (sporadic)" "13y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341725" "05611" "00453080" "00006" "Isolated (sporadic)" "1y10m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341726" "05611" "00453081" "00006" "Isolated (sporadic)" "20y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341727" "05611" "00453082" "00006" "Familial" "2y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341728" "05611" "00453083" "00006" "Isolated (sporadic)" "5y2m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341729" "05611" "00453084" "00006" "Isolated (sporadic)" "2y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341730" "05611" "00453085" "00006" "Isolated (sporadic)" "4y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341731" "05611" "00453086" "00006" "Isolated (sporadic)" "10y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341732" "05611" "00453087" "00006" "Unknown" "38y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341733" "05611" "00453088" "00006" "Isolated (sporadic)" "6y11m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341734" "05611" "00453089" "00006" "Familial" "9y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341735" "05611" "00453090" "00006" "Unknown" "31y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341736" "05611" "00453091" "00006" "Unknown" "35y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341737" "05611" "00453092" "00006" "Isolated (sporadic)" "19y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341738" "05611" "00453093" "00006" "Isolated (sporadic)" "40y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341739" "05611" "00453094" "00006" "Familial" "5y6m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341740" "05611" "00453095" "00006" "Familial" "" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341741" "05611" "00453096" "00006" "Unknown" "" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341742" "05611" "00453097" "00006" "Unknown" "20y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341743" "05611" "00453098" "00006" "Isolated (sporadic)" "6y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341744" "05611" "00453099" "00006" "Isolated (sporadic)" "6y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341745" "05611" "00453100" "00006" "Isolated (sporadic)" "6y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341746" "05611" "00453101" "00006" "Isolated (sporadic)" "34y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341747" "05611" "00453102" "00006" "Unknown" "4y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341748" "05611" "00453103" "00006" "Isolated (sporadic)" "15y5m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341749" "05611" "00453104" "00006" "Isolated (sporadic)" "6y6m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341750" "05611" "00453105" "00006" "Isolated (sporadic)" "2y9m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341751" "05611" "00453106" "00006" "Familial" "30y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341752" "05611" "00453107" "00006" "Unknown" "17y3m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341753" "05611" "00453108" "00006" "Familial" "4y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341754" "05611" "00453109" "00006" "Isolated (sporadic)" "20y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341755" "05611" "00453110" "00006" "Familial" "10y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341756" "05611" "00453111" "00006" "Unknown" "40y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341757" "05611" "00453112" "00006" "Isolated (sporadic)" "16y1m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341758" "05611" "00453113" "00006" "Unknown" "5d" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341759" "05611" "00453114" "00006" "Unknown" "11y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341760" "05611" "00453115" "00006" "Isolated (sporadic)" "24y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341761" "05611" "00453116" "00006" "Isolated (sporadic)" "19y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341762" "05611" "00453117" "00006" "Isolated (sporadic)" "16y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341763" "05611" "00453118" "00006" "Isolated (sporadic)" "3y9m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341764" "05611" "00453119" "00006" "Isolated (sporadic)" "16y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341765" "05611" "00453120" "00006" "Unknown" "21y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341766" "05611" "00453121" "00006" "Isolated (sporadic)" "11y4m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341767" "05611" "00453122" "00006" "Isolated (sporadic)" "6y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341768" "05611" "00453123" "00006" "Unknown" "4y5m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341769" "05611" "00453124" "00006" "Isolated (sporadic)" "5y10m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341770" "05611" "00453125" "00006" "Unknown" "39y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000346459" "00198" "00458009" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., microcephaly; optic atrophy; MRI brain normal; no seizures; EEG normal; global development delay; regression; hypotonia; spasticity; movement disorder; abnormal shape" "" "" "" "" "" "" "" "" "" "" "MMDS9B" "mitochondriopathy" "" "0000346964" "05770" "00458529" "01164" "Unknown" "05y" "Global developmental delay, Atypical behavior, Exodeviation, Aggressive behavior, Expressive language delay" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 144 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000312593" "00311423" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312594" "00311424" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312595" "00311425" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000313140" "00311968" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313141" "00311969" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313142" "00311970" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313143" "00311971" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313144" "00311972" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313145" "00311973" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313146" "00311974" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313147" "00311975" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313148" "00311976" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313149" "00311977" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313150" "00311978" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313151" "00311979" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313152" "00311980" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313153" "00311981" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313220" "00312048" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313221" "00312049" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313222" "00312050" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313223" "00312051" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313224" "00312052" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313225" "00312053" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313226" "00312054" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313227" "00312055" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313228" "00312056" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313229" "00312057" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313230" "00312058" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313231" "00312059" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313232" "00312060" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313233" "00312061" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313234" "00312062" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313235" "00312063" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313236" "00312064" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313237" "00312065" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313238" "00312066" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313239" "00312067" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313240" "00312068" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313241" "00312069" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313242" "00312070" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313243" "00312071" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313244" "00312072" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313245" "00312073" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313246" "00312074" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313247" "00312075" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313248" "00312076" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313249" "00312077" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313250" "00312078" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313251" "00312079" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313252" "00312080" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313253" "00312081" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313254" "00312082" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313255" "00312083" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313256" "00312084" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313257" "00312085" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313258" "00312086" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313259" "00312087" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313260" "00312088" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000393097" "00391855" "1" "02494" "02494" "2021-11-19 11:35:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000399859" "00398614" "1" "01164" "01164" "2022-01-07 10:35:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000439798" "00438316" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439799" "00438317" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439871" "00438389" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454626" "00453015" "1" "00006" "00006" "2024-08-14 10:39:18" "" "" "SEQ-NG;SEQ" "DNA" "" "gene panel" "0000454630" "00453019" "1" "00006" "00006" "2024-08-14 11:08:45" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454631" "00453020" "1" "00006" "00006" "2024-08-14 11:08:45" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454632" "00453021" "1" "00006" "00006" "2024-08-14 11:08:45" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454633" "00453022" "1" "00006" "00006" "2024-08-14 11:08:45" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000454634" "00453023" "1" "00006" "00006" "2024-08-14 11:08:45" "00006" "2024-08-14 11:17:17" "arrayCGH" "DNA" "" "WES" "0000454665" "00453054" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454666" "00453055" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454667" "00453056" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454668" "00453057" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454669" "00453058" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454670" "00453059" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454671" "00453060" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454672" "00453061" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454673" "00453062" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "arrayCGH" "DNA" "" "" "0000454674" "00453063" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454675" "00453064" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454676" "00453065" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454677" "00453066" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454678" "00453067" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454679" "00453068" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454680" "00453069" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454681" "00453070" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454682" "00453071" "1" "00006" "00006" "2024-08-15 19:46:57" "00006" "2024-10-02 20:56:26" "arrayCGH;SEQ-NG" "DNA" "" "" "0000454683" "00453072" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "arrayCGH" "DNA" "" "" "0000454684" "00453073" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454685" "00453074" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454686" "00453075" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454687" "00453076" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454688" "00453077" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454689" "00453078" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454690" "00453079" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454691" "00453080" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454692" "00453081" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454693" "00453082" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454694" "00453083" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454695" "00453084" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454696" "00453085" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454697" "00453086" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454698" "00453087" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454699" "00453088" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454700" "00453089" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454701" "00453090" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454702" "00453091" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454703" "00453092" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454704" "00453093" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454705" "00453094" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454706" "00453095" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454707" "00453096" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454708" "00453097" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454709" "00453098" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454710" "00453099" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454711" "00453100" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "arrayCGH" "DNA" "" "" "0000454712" "00453101" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454713" "00453102" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454714" "00453103" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454715" "00453104" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "arrayCGH" "DNA" "" "" "0000454716" "00453105" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454717" "00453106" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454718" "00453107" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454719" "00453108" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454720" "00453109" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "arrayCGH" "DNA" "" "" "0000454721" "00453110" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454722" "00453111" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454723" "00453112" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454724" "00453113" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454725" "00453114" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "arrayCGH" "DNA" "" "" "0000454726" "00453115" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454727" "00453116" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "arrayCGH" "DNA" "" "" "0000454728" "00453117" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454729" "00453118" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454730" "00453119" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454731" "00453120" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454732" "00453121" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454733" "00453122" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454734" "00453123" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454735" "00453124" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000454736" "00453125" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000459629" "00458009" "1" "00006" "00006" "2024-11-25 14:01:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460151" "00458529" "1" "01164" "01164" "2024-12-16 11:54:22" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000462676" "00461044" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{geneid}}" "0000312593" "MLL3" "0000312594" "MLL3" "0000312595" "MLL3" "0000313140" "MLL3" "0000313141" "MLL3" "0000313142" "MLL3" "0000313143" "MLL3" "0000313144" "MLL3" "0000313145" "MLL3" "0000313146" "MLL3" "0000313147" "MLL3" "0000313148" "MLL3" "0000313149" "MLL3" "0000313150" "MLL3" "0000313151" "MLL3" "0000313152" "MLL3" "0000313153" "MLL3" "0000313220" "MLL3" "0000313221" "MLL3" "0000313222" "MLL3" "0000313223" "MLL3" "0000313224" "MLL3" "0000313225" "MLL3" "0000313226" "MLL3" "0000313227" "MLL3" "0000313228" "MLL3" "0000313229" "MLL3" "0000313230" "MLL3" "0000313231" "MLL3" "0000313232" "MLL3" "0000313233" "MLL3" "0000313234" "MLL3" "0000313235" "MLL3" "0000313236" "MLL3" "0000313237" "MLL3" "0000313238" "MLL3" "0000313239" "MLL3" "0000313240" "MLL3" "0000313241" "MLL3" "0000313242" "MLL3" "0000313243" "MLL3" "0000313244" "MLL3" "0000313245" "MLL3" "0000313246" "MLL3" "0000313247" "MLL3" "0000313248" "MLL3" "0000313249" "MLL3" "0000313250" "MLL3" "0000313251" "MLL3" "0000313252" "MLL3" "0000313253" "MLL3" "0000313254" "MLL3" "0000313255" "MLL3" "0000313256" "MLL3" "0000313257" "MLL3" "0000313258" "MLL3" "0000313259" "MLL3" "0000313260" "MLL3" "0000399859" "MLL3" "0000460151" "MLL3" "0000462676" "MLL3" ## 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 = 480 "{{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}}" "0000254698" "0" "30" "7" "151945313" "151945313" "subst" "0" "01943" "MLL3_000058" "g.151945313A>G" "" "" "" "KMT2C(NM_170606.2):c.2206T>C (p.L736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152248228A>G" "" "likely benign" "" "0000255173" "0" "30" "7" "151949678" "151949678" "subst" "0.00154303" "01943" "MLL3_000062" "g.151949678A>G" "" "" "" "KMT2C(NM_170606.2):c.1422T>C (p.Y474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152252593A>G" "" "likely benign" "" "0000283501" "0" "70" "7" "151860344" "151860344" "subst" "0" "02329" "MLL3_000015" "g.151860344C>A" "" "" "" "KMT2C(NM_170606.3):c.10318G>T (p.E3440*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152163259C>A" "" "likely pathogenic" "" "0000290428" "0" "30" "7" "151859763" "151859763" "subst" "0" "01943" "MLL3_000011" "g.151859763C>A" "" "" "" "KMT2C(NM_170606.2):c.10899G>T (p.P3633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152162678C>A" "" "likely benign" "" "0000290429" "0" "10" "7" "151962176" "151962176" "subst" "0" "01943" "MLL3_000067" "g.151962176T>A" "" "" "" "KMT2C(NM_170606.2):c.1131A>T (p.P377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152265091T>A" "" "benign" "" "0000290430" "0" "10" "7" "151962168" "151962168" "subst" "0" "01943" "MLL3_000066" "g.151962168C>A" "" "" "" "KMT2C(NM_170606.2):c.1139G>T (p.R380L, p.(Arg380Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152265083C>A" "" "benign" "" "0000290431" "0" "50" "7" "151856004" "151856004" "subst" "0.000795952" "01943" "MLL3_000009" "g.151856004C>T" "" "" "" "KMT2C(NM_170606.2):c.11614G>A (p.E3872K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152158919C>T" "" "VUS" "" "0000290432" "0" "10" "7" "151962134" "151962134" "subst" "0" "01943" "MLL3_000065" "g.151962134G>T" "" "" "" "KMT2C(NM_170606.2):c.1173C>A (p.C391*, p.(Cys391Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152265049G>T" "" "benign" "" "0000290433" "0" "30" "7" "151962128" "151962128" "subst" "0" "01943" "MLL3_000064" "g.151962128G>A" "" "" "" "KMT2C(NM_170606.2):c.1179C>T (p.N393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152265043G>A" "" "likely benign" "" "0000290434" "0" "10" "7" "151843693" "151843693" "subst" "0.00288211" "01943" "MLL3_000002" "g.151843693T>A" "" "" "" "KMT2C(NM_170606.2):c.14022A>T (p.I4674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152146608T>A" "" "benign" "" "0000290435" "0" "30" "7" "151836273" "151836273" "subst" "0" "01943" "MLL3_000001" "g.151836273T>C" "" "" "" "KMT2C(NM_170606.2):c.14532A>G (p.A4844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152139188T>C" "" "likely benign" "" "0000290436" "0" "10" "7" "151945334" "151945334" "subst" "0" "01943" "MLL3_000059" "g.151945334T>C" "" "" "" "KMT2C(NM_170606.2):c.2185A>G (p.N729D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152248249T>C" "" "benign" "" "0000290437" "0" "10" "7" "151945167" "151945167" "subst" "0" "01943" "MLL3_000053" "g.151945167G>A" "" "" "" "KMT2C(NM_170606.2):c.2352C>T (p.S784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152248082G>A" "" "benign" "" "0000290439" "0" "10" "7" "151944981" "151944981" "subst" "0" "01943" "MLL3_000050" "g.151944981C>A" "" "" "" "KMT2C(NM_170606.2):c.2532+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152247896C>A" "" "benign" "" "0000290440" "0" "50" "7" "151902197" "151902197" "subst" "0.00616733" "01943" "MLL3_000041" "g.151902197C>G" "" "" "" "KMT2C(NM_170606.2):c.3955G>C (p.D1319H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152205112C>G" "" "VUS" "" "0000290441" "0" "30" "7" "151878756" "151878756" "subst" "4.0665E-6" "01943" "MLL3_000038" "g.151878756T>G" "" "" "" "KMT2C(NM_170606.2):c.6189A>C (p.A2063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152181671T>G" "" "likely benign" "" "0000290442" "0" "50" "7" "151875034" "151875034" "subst" "1.24875E-5" "01943" "MLL3_000029" "g.151875034G>C" "" "" "" "KMT2C(NM_170606.2):c.7504C>G (p.P2502A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152177949G>C" "" "VUS" "" "0000290443" "0" "30" "7" "151970959" "151970959" "subst" "0" "01943" "MLL3_000075" "g.151970959G>A" "" "" "" "KMT2C(NM_170606.2):c.850-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152273874G>A" "" "likely benign" "" "0000290444" "0" "50" "7" "151873599" "151873599" "subst" "0" "01943" "MLL3_000024" "g.151873599T>G" "" "" "" "KMT2C(NM_170606.2):c.8939A>C (p.N2980T, p.(Asn2980Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152176514T>G" "" "VUS" "" "0000290445" "0" "50" "7" "151873488" "151873488" "subst" "0.000300539" "01943" "MLL3_000023" "g.151873488G>T" "" "" "" "KMT2C(NM_170606.2):c.9050C>A (p.T3017K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152176403G>T" "" "VUS" "" "0000290446" "0" "10" "7" "151873388" "151873388" "subst" "0.00119409" "01943" "MLL3_000022" "g.151873388T>C" "" "" "" "KMT2C(NM_170606.2):c.9150A>G (p.E3050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152176303T>C" "" "benign" "" "0000290447" "0" "10" "7" "151873293" "151873293" "subst" "0.00387252" "01943" "MLL3_000021" "g.151873293G>A" "" "" "" "KMT2C(NM_170606.2):c.9245C>T (p.P3082L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152176208G>A" "" "benign" "" "0000290448" "0" "30" "7" "151864417" "151864417" "subst" "0.00107283" "01943" "MLL3_000019" "g.151864417T>C" "" "" "" "KMT2C(NM_170606.2):c.9564A>G (p.Q3188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152167332T>C" "" "likely benign" "" "0000337249" "0" "10" "7" "151933033" "151933033" "subst" "0.0447011" "02327" "MLL3_000049" "g.151933033G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152235948G>A" "" "benign" "" "0000339473" "0" "10" "7" "151873853" "151873853" "subst" "0.241132" "02327" "MLL3_000025" "g.151873853C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152176768C>T" "" "benign" "" "0000339474" "0" "10" "7" "151875047" "151875047" "subst" "0.00665576" "02327" "MLL3_000030" "g.151875047G>A" "" "" "" "KMT2C(NM_170606.2):c.7491C>T (p.R2497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152177962G>A" "" "benign" "" "0000339475" "0" "10" "7" "151932908" "151932908" "subst" "0" "02327" "MLL3_000046" "g.151932908T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152235823T>C" "" "benign" "" "0000339476" "0" "10" "7" "151932965" "151932965" "subst" "0" "02327" "MLL3_000047" "g.151932965C>T" "" "" "" "KMT2C(NM_170606.3):c.2706G>A (p.(Ser902=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152235880C>T" "" "benign" "" "0000342811" "0" "70" "7" "151851508" "151851508" "subst" "0" "02327" "MLL3_000008" "g.151851508G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152154423G>A" "" "likely pathogenic" "" "0000343060" "0" "10" "7" "151949068" "151949068" "subst" "0.0701324" "02327" "MLL3_000061" "g.151949068C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152251983C>G" "" "benign" "" "0000343459" "0" "10" "7" "151932990" "151932990" "subst" "0" "02327" "MLL3_000048" "g.151932990C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152235905C>T" "" "benign" "" "0000344762" "0" "50" "7" "151864416" "151864416" "subst" "0" "02327" "MLL3_000018" "g.151864416G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152167331G>A" "" "VUS" "" "0000347052" "0" "10" "7" "151874581" "151874581" "subst" "0.00685165" "02327" "MLL3_000027" "g.151874581G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152177496G>C" "" "benign" "" "0000347597" "0" "50" "7" "151947983" "151947983" "subst" "0" "02327" "MLL3_000060" "g.151947983T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.152250898T>A" "" "VUS" "" "0000531410" "0" "50" "7" "151845195" "151845195" "subst" "0" "02325" "MLL3_000003" "g.151845195T>C" "" "" "" "KMT2C(NM_170606.3):c.13817A>G (p.D4606G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152148110T>C" "" "VUS" "" "0000531411" "0" "70" "7" "151845334" "151845334" "subst" "0" "01943" "MLL3_000004" "g.151845334G>A" "" "" "" "KMT2C(NM_170606.2):c.13678C>T (p.Q4560*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152148249G>A" "" "likely pathogenic" "" "0000531412" "0" "50" "7" "151846134" "151846134" "subst" "0" "01804" "MLL3_000005" "g.151846134G>A" "" "" "" "KMT2C(NM_170606.2):c.12878C>T (p.(Pro4293Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152149049G>A" "" "VUS" "" "0000531413" "0" "50" "7" "151846141" "151846141" "subst" "0" "02329" "MLL3_000006" "g.151846141A>G" "" "" "" "KMT2C(NM_170606.3):c.12871T>C (p.C4291R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152149056A>G" "" "VUS" "" "0000531414" "0" "50" "7" "151851373" "151851373" "subst" "0" "02327" "MLL3_000007" "g.151851373G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152154288G>T" "" "VUS" "" "0000531415" "0" "30" "7" "151859523" "151859523" "subst" "0.00296831" "01943" "MLL3_000010" "g.151859523G>A" "" "" "" "KMT2C(NM_170606.2):c.11139C>T (p.A3713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152162438G>A" "" "likely benign" "" "0000531416" "0" "90" "7" "151860078" "151860078" "del" "0" "02327" "MLL3_000012" "g.151860078del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152162993del" "" "pathogenic" "" "0000531417" "0" "30" "7" "151860149" "151860149" "subst" "0.00018679" "01943" "MLL3_000013" "g.151860149T>C" "" "" "" "KMT2C(NM_170606.2):c.10513A>G (p.N3505D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152163064T>C" "" "likely benign" "" "0000531418" "0" "50" "7" "151860281" "151860281" "subst" "0" "02329" "MLL3_000014" "g.151860281C>T" "" "" "" "KMT2C(NM_170606.3):c.10381G>A (p.D3461N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152163196C>T" "" "VUS" "" "0000531419" "0" "30" "7" "151860499" "151860499" "subst" "1.21818E-5" "01804" "MLL3_000016" "g.151860499T>C" "" "" "" "KMT2C(NM_170606.2):c.10163A>G (p.(Asn3388Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152163414T>C" "" "likely benign" "" "0000531420" "0" "50" "7" "151860796" "151860796" "subst" "0.000134129" "01943" "MLL3_000017" "g.151860796G>A" "" "" "" "KMT2C(NM_170606.2):c.9866C>T (p.P3289L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152163711G>A" "" "VUS" "" "0000531421" "0" "50" "7" "151866333" "151866333" "subst" "0" "01943" "MLL3_000020" "g.151866333T>C" "" "" "" "KMT2C(NM_170606.2):c.9455A>G (p.D3152G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152169248T>C" "" "VUS" "" "0000531422" "0" "90" "7" "151874156" "151874156" "dup" "0" "02325" "MLL3_000026" "g.151874156dup" "" "" "" "KMT2C(NM_170606.3):c.8390dupA (p.E2798Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152177071dup" "" "pathogenic" "" "0000531423" "0" "30" "7" "151874608" "151874608" "subst" "3.65622E-5" "01943" "MLL3_000028" "g.151874608T>C" "" "" "" "KMT2C(NM_170606.2):c.7930A>G (p.M2644V, p.(Met2644Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152177523T>C" "" "likely benign" "" "0000531427" "0" "70" "7" "151877154" "151877154" "subst" "4.06147E-6" "01804" "MLL3_000034" "g.151877154G>A" "" "" "" "KMT2C(NM_170606.2):c.7207C>T (p.(Arg2403Ter)), KMT2C(NM_170606.3):c.7207C>T (p.R2403*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152180069G>A" "" "likely pathogenic" "" "0000531428" "0" "30" "7" "151878109" "151878109" "subst" "0.000142194" "01943" "MLL3_000035" "g.151878109G>A" "" "" "" "KMT2C(NM_170606.2):c.6836C>T (p.P2279L), KMT2C(NM_170606.3):c.6836C>T (p.(Pro2279Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152181024G>A" "" "likely benign" "" "0000531430" "0" "50" "7" "151878670" "151878670" "subst" "0.000496129" "01943" "MLL3_000037" "g.151878670T>A" "" "" "" "KMT2C(NM_170606.2):c.6275A>T (p.D2092V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152181585T>A" "" "VUS" "" "0000531431" "0" "50" "7" "151880153" "151880153" "subst" "0.000166823" "01943" "MLL3_000039" "g.151880153C>A" "" "" "" "KMT2C(NM_170606.2):c.5171G>T (p.S1724I), KMT2C(NM_170606.3):c.5171G>T (p.(Ser1724Ile), p.S1724I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152183068C>A" "" "VUS" "" "0000531432" "0" "50" "7" "151896510" "151896510" "subst" "0" "01804" "MLL3_000040" "g.151896510C>T" "" "" "" "KMT2C(NM_170606.3):c.4127G>A (p.(Ser1376Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152199425C>T" "" "VUS" "" "0000531435" "0" "50" "7" "151919153" "151919153" "subst" "0" "01943" "MLL3_000043" "g.151919153T>A" "" "" "" "KMT2C(NM_170606.2):c.3434-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152222068T>A" "" "VUS" "" "0000531436" "0" "30" "7" "151927016" "151927016" "subst" "0" "01804" "MLL3_000044" "g.151927016T>C" "" "" "" "KMT2C(NM_170606.2):c.2968A>G (p.(Ser990Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152229931T>C" "" "likely benign" "" "0000531437" "0" "30" "7" "151932897" "151932897" "subst" "0" "01804" "MLL3_000045" "g.151932897C>A" "" "" "" "KMT2C(NM_170606.2):c.2769+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152235812C>A" "" "likely benign" "" "0000531438" "0" "30" "7" "151944981" "151944981" "subst" "0" "01943" "MLL3_000051" "g.151944981C>T" "" "" "" "KMT2C(NM_170606.2):c.2532+6G>A, KMT2C(NM_170606.3):c.2532+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152247896C>T" "" "likely benign" "" "0000531439" "0" "10" "7" "151945072" "151945072" "dup" "0" "01943" "MLL3_000052" "g.151945072dup" "" "" "" "KMT2C(NM_170606.2):c.2447dupA (p.Y816*), KMT2C(NM_170606.3):c.2447dup (p.(Tyr816Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152247987dup" "" "benign" "" "0000531440" "0" "10" "7" "151945204" "151945204" "subst" "0" "01943" "MLL3_000054" "g.151945204G>A" "" "" "" "KMT2C(NM_170606.2):c.2315C>T (p.S772L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152248119G>A" "" "benign" "" "0000531441" "0" "30" "7" "151945225" "151945225" "subst" "0" "01804" "MLL3_000055" "g.151945225T>C" "" "" "" "KMT2C(NM_170606.2):c.2294A>G (p.(Glu765Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152248140T>C" "" "likely benign" "" "0000531443" "0" "30" "7" "151945256" "151945256" "subst" "0" "01804" "MLL3_000057" "g.151945256G>A" "" "" "" "KMT2C(NM_170606.2):c.2263C>T (p.(Gln755*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152248171G>A" "" "likely benign" "" "0000531446" "0" "30" "7" "151962134" "151962134" "subst" "0" "01804" "MLL3_000065" "g.151962134G>T" "" "" "" "KMT2C(NM_170606.2):c.1173C>A (p.C391*, p.(Cys391Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265049G>T" "" "likely benign" "" "0000531447" "0" "30" "7" "151962168" "151962168" "subst" "0" "01804" "MLL3_000066" "g.151962168C>A" "" "" "" "KMT2C(NM_170606.2):c.1139G>T (p.R380L, p.(Arg380Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265083C>A" "" "likely benign" "" "0000531448" "0" "30" "7" "151962265" "151962265" "subst" "0" "01804" "MLL3_000068" "g.151962265C>T" "" "" "" "KMT2C(NM_170606.2):c.1042G>A (p.(Asp348Asn)), KMT2C(NM_170606.3):c.1042G>A (p.D348N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265180C>T" "" "likely benign" "" "0000531449" "0" "30" "7" "151962290" "151962290" "subst" "0" "01804" "MLL3_000069" "g.151962290C>G" "" "" "" "KMT2C(NM_170606.2):c.1017G>C (p.(Lys339Asn)), KMT2C(NM_170606.3):c.1017G>C (p.K339N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265205C>G" "" "likely benign" "" "0000531450" "0" "30" "7" "151962294" "151962294" "subst" "0" "01804" "MLL3_000070" "g.151962294G>A" "" "" "" "KMT2C(NM_170606.2):c.1013C>T (p.(Ser338Leu)), KMT2C(NM_170606.3):c.1013C>T (p.S338L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265209G>A" "" "likely benign" "" "0000531451" "0" "50" "7" "151962294" "151962294" "subst" "0" "02325" "MLL3_000070" "g.151962294G>A" "" "" "" "KMT2C(NM_170606.2):c.1013C>T (p.(Ser338Leu)), KMT2C(NM_170606.3):c.1013C>T (p.S338L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265209G>A" "" "VUS" "" "0000531452" "0" "30" "7" "151962296" "151962296" "subst" "0" "01804" "MLL3_000071" "g.151962296T>C" "" "" "" "KMT2C(NM_170606.2):c.1013-2A>G (p.?), KMT2C(NM_170606.3):c.1013-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265211T>C" "" "likely benign" "" "0000531454" "0" "30" "7" "151970859" "151970859" "subst" "0" "01804" "MLL3_000073" "g.151970859C>T" "" "" "" "KMT2C(NM_170606.2):c.943G>A (p.(Gly315Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152273774C>T" "" "likely benign" "" "0000531455" "0" "30" "7" "151970951" "151970951" "subst" "0" "01804" "MLL3_000074" "g.151970951C>T" "" "" "" "KMT2C(NM_170606.2):c.851G>A (p.(Arg284Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152273866C>T" "" "likely benign" "" "0000610965" "0" "30" "7" "151833996" "151833996" "subst" "0" "01804" "MLL3_000076" "g.151833996T>C" "" "" "" "KMT2C(NM_170606.2):c.14657A>G (p.(Tyr4886Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152136911T>C" "" "likely benign" "" "0000610966" "0" "30" "7" "151859751" "151859751" "subst" "0.00469247" "01943" "MLL3_000078" "g.151859751G>A" "" "" "" "KMT2C(NM_170606.2):c.10911C>T (p.I3637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152162666G>A" "" "likely benign" "" "0000610967" "0" "30" "7" "151860688" "151860688" "subst" "0.000271805" "01804" "MLL3_000079" "g.151860688C>A" "" "" "" "KMT2C(NM_170606.2):c.9974G>T (p.(Ser3325Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152163603C>A" "" "likely benign" "" "0000610968" "0" "70" "7" "151874156" "151874156" "dup" "0" "02327" "MLL3_000026" "g.151874156dup" "" "" "" "KMT2C(NM_170606.3):c.8390dupA (p.E2798Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152177071dup" "" "likely pathogenic" "" "0000610969" "0" "50" "7" "151877024" "151877024" "subst" "8.12486E-6" "01804" "MLL3_000081" "g.151877024G>A" "" "" "" "KMT2C(NM_170606.2):c.7337C>T (p.(Pro2446Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152179939G>A" "" "VUS" "" "0000610970" "0" "30" "7" "151877968" "151877968" "subst" "2.43871E-5" "01804" "MLL3_000082" "g.151877968G>T" "" "" "" "KMT2C(NM_170606.2):c.6977C>A (p.(Pro2326Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152180883G>T" "" "likely benign" "" "0000610971" "0" "30" "7" "151884369" "151884369" "subst" "0.00058923" "01943" "MLL3_000083" "g.151884369G>C" "" "" "" "KMT2C(NM_170606.2):c.4986C>G (p.P1662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152187284G>C" "" "likely benign" "" "0000610972" "0" "70" "7" "151917764" "151917764" "subst" "0" "01943" "MLL3_000084" "g.151917764G>A" "" "" "" "KMT2C(NM_170606.2):c.3556C>T (p.Q1186*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152220679G>A" "" "likely pathogenic" "" "0000610973" "0" "50" "7" "151945010" "151945010" "subst" "0" "02325" "MLL3_000086" "g.151945010G>A" "" "" "" "KMT2C(NM_170606.3):c.2509C>T (p.P837S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152247925G>A" "" "VUS" "" "0000610974" "0" "30" "7" "151945228" "151945228" "subst" "3.29007E-5" "02325" "MLL3_000056" "g.151945228G>A" "" "" "" "KMT2C(NM_170606.3):c.2291C>T (p.S764F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152248143G>A" "" "likely benign" "" "0000610975" "0" "30" "7" "151949756" "151949756" "subst" "0.00046863" "02325" "MLL3_000087" "g.151949756C>A" "" "" "" "KMT2C(NM_170606.3):c.1344G>T (p.Q448H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152252671C>A" "" "likely benign" "" "0000610976" "0" "30" "7" "151970877" "151970877" "subst" "0" "01804" "MLL3_000088" "g.151970877G>A" "" "" "" "KMT2C(NM_170606.2):c.925C>T (p.(Pro309Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152273792G>A" "" "likely benign" "" "0000610978" "0" "50" "7" "152008900" "152008900" "subst" "2.03565E-5" "01943" "MLL3_000090" "g.152008900G>C" "" "" "" "KMT2C(NM_170606.2):c.722C>G (p.A241G, p.(Ala241Gly)), KMT2C(NM_170606.3):c.722C>G (p.A241G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152311815G>C" "" "VUS" "" "0000610979" "0" "70" "7" "152012230" "152012230" "subst" "0" "02327" "MLL3_000091" "g.152012230G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152315145G>A" "" "likely pathogenic" "" "0000621861" "0" "30" "7" "151836886" "151836886" "subst" "0.000126202" "01943" "MLL3_000077" "g.151836886A>G" "" "" "" "KMT2C(NM_170606.2):c.14344-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152139801A>G" "" "likely benign" "" "0000621862" "0" "30" "7" "151873706" "151873706" "subst" "1.21944E-5" "01943" "MLL3_000080" "g.151873706C>T" "" "" "" "KMT2C(NM_170606.2):c.8832G>A (p.P2944=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152176621C>T" "" "likely benign" "" "0000655791" "0" "50" "7" "151843692" "151843692" "subst" "0" "02325" "MLL3_000092" "g.151843692C>T" "" "" "" "KMT2C(NM_170606.3):c.14023G>A (p.A4675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152146607C>T" "" "VUS" "" "0000655792" "0" "50" "7" "151848654" "151848654" "subst" "0" "02327" "MLL3_000093" "g.151848654T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152151569T>C" "" "VUS" "" "0000655793" "0" "30" "7" "151864221" "151864221" "subst" "0" "01943" "MLL3_000094" "g.151864221T>C" "" "" "" "KMT2C(NM_170606.2):c.9750+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152167136T>C" "" "likely benign" "" "0000655794" "0" "30" "7" "151874692" "151874692" "subst" "4.06223E-5" "01943" "MLL3_000095" "g.151874692G>A" "" "" "" "KMT2C(NM_170606.2):c.7846C>T (p.P2616S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152177607G>A" "" "likely benign" "" "0000655795" "0" "50" "7" "151879607" "151879609" "dup" "0" "01943" "MLL3_000096" "g.151879607_151879609dup" "" "" "" "KMT2C(NM_170606.2):c.5349_5351dupGCA (p.Q1787dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152182522_152182524dup" "" "VUS" "" "0000655796" "0" "30" "7" "151932893" "151932893" "subst" "5.39258E-5" "01943" "MLL3_000097" "g.151932893A>C" "" "" "" "KMT2C(NM_170606.2):c.2769+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152235808A>C" "" "likely benign" "" "0000655797" "0" "50" "7" "151962296" "151962296" "subst" "0" "02325" "MLL3_000071" "g.151962296T>C" "" "" "" "KMT2C(NM_170606.2):c.1013-2A>G (p.?), KMT2C(NM_170606.3):c.1013-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.152265211T>C" "" "VUS" "" "0000678042" "0" "70" "7" "151856053" "151856054" "del" "0" "02327" "MLL3_000098" "g.151856053_151856054del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678043" "0" "50" "7" "151864301" "151864301" "subst" "0" "01943" "MLL3_000099" "g.151864301G>A" "" "" "" "KMT2C(NM_170606.2):c.9680C>T (p.P3227L), KMT2C(NM_170606.3):c.9680C>T (p.(Pro3227Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678044" "0" "30" "7" "151873599" "151873599" "subst" "0" "01804" "MLL3_000024" "g.151873599T>G" "" "" "" "KMT2C(NM_170606.2):c.8939A>C (p.N2980T, p.(Asn2980Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678045" "0" "50" "7" "151877102" "151877113" "del" "0" "01943" "MLL3_000100" "g.151877102_151877113del" "" "" "" "KMT2C(NM_170606.2):c.7250_7261delCAGGGCCTCTTC (p.P2417_L2420del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678046" "0" "50" "7" "151877903" "151877903" "subst" "0" "01804" "MLL3_000101" "g.151877903G>A" "" "" "" "KMT2C(NM_170606.2):c.7042C>T (p.(Gln2348*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678047" "0" "30" "7" "151917814" "151917814" "subst" "0" "01804" "MLL3_000102" "g.151917814G>A" "" "" "" "KMT2C(NM_170606.2):c.3506C>T (p.(Pro1169Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678050" "0" "50" "7" "152007113" "152007113" "subst" "0" "01943" "MLL3_000105" "g.152007113A>C" "" "" "" "KMT2C(NM_170606.2):c.787T>G (p.C263G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689958" "0" "30" "7" "151856047" "151856047" "subst" "1.62444E-5" "01943" "MLL3_000106" "g.151856047C>G" "" "" "" "KMT2C(NM_170606.2):c.11571G>C (p.T3857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694194" "0" "90" "7" "151884849" "151884849" "subst" "0" "00006" "MLL3_000109" "g.151884849C>A" "" "{PMID:Faundes 2018:29276005}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "De novo" "" "" "0" "" "" "g.152187764C>A" "" "pathogenic (dominant)" "" "0000694195" "0" "90" "7" "151873688" "151873689" "del" "0" "00006" "MLL3_000108" "g.151873688_151873689del" "" "{PMID:Faundes 2018:29276005}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8849_8850delAT" "" "De novo" "" "" "0" "" "" "g.152176603_152176604del" "" "pathogenic (dominant)" "" "0000694196" "0" "90" "7" "151836281" "151836281" "dup" "0" "00006" "MLL3_000107" "g.151836281dup" "" "{PMID:Faundes 2018:29276005}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "14526dupG" "" "De novo" "" "" "0" "" "" "g.152139196dup" "" "pathogenic (dominant)" "" "0000694874" "0" "50" "7" "151848074" "151848074" "subst" "0" "00006" "MLL3_000112" "g.151848074T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in YWHAG" "De novo" "" "" "0" "" "" "g.152150989T>C" "" "VUS" "ACMG" "0000694875" "21" "50" "7" "151851220" "151851220" "subst" "4.06504E-6" "00006" "MLL3_000113" "g.151851220T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in ABCA13" "Germline" "" "" "0" "" "" "g.152154135T>C" "" "VUS" "ACMG" "0000694876" "21" "50" "7" "151851393" "151851393" "subst" "8.12414E-6" "00006" "MLL3_000114" "g.151851393G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in SPRED1 del" "Germline" "" "" "0" "" "" "g.152154308G>A" "" "VUS" "ACMG" "0000694877" "11" "30" "7" "151854958" "151854958" "subst" "0" "00006" "MLL3_000115" "g.151854958T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in CREBBP" "Germline" "" "" "0" "" "" "g.152157873T>C" "" "likely benign" "ACMG" "0000694878" "11" "30" "7" "151854958" "151854958" "subst" "0" "00006" "MLL3_000115" "g.151854958T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in MEF2C" "Germline" "" "" "0" "" "" "g.152157873T>C" "" "likely benign" "ACMG" "0000694879" "11" "50" "7" "151860613" "151860613" "subst" "4.89141E-5" "00006" "MLL3_000116" "g.151860613C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in TCOF1" "Germline" "" "" "0" "" "" "g.152163528C>T" "" "VUS" "ACMG" "0000694880" "11" "30" "7" "151860688" "151860688" "subst" "0.000271805" "00006" "MLL3_000079" "g.151860688C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in PYCR1, AMER1" "Germline" "" "" "0" "" "" "g.152163603C>A" "" "likely benign" "ACMG" "0000694881" "0" "90" "7" "151873688" "151873689" "del" "0" "00006" "MLL3_000108" "g.151873688_151873689del" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.152176603_152176604del" "" "pathogenic" "ACMG" "0000694882" "21" "50" "7" "151875069" "151875069" "subst" "6.40927E-6" "00006" "MLL3_000117" "g.151875069C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in TCF4" "Germline" "" "" "0" "" "" "g.152177984C>T" "" "VUS" "ACMG" "0000694883" "21" "50" "7" "151875070" "151875070" "subst" "6.45411E-6" "00006" "MLL3_000118" "g.151875070C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in TCF4" "Germline" "" "" "0" "" "" "g.152177985C>T" "" "VUS" "ACMG" "0000694884" "21" "50" "7" "151878029" "151878029" "subst" "1.6258E-5" "00006" "MLL3_000119" "g.151878029G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in DYNC1H1, PLCB4" "Germline" "" "" "0" "" "" "g.152180944G>A" "" "VUS" "ACMG" "0000694885" "21" "50" "7" "151878037" "151878037" "subst" "1.62558E-5" "00006" "MLL3_000120" "g.151878037G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.152180952G>A" "" "VUS" "ACMG" "0000694886" "0" "90" "7" "151884849" "151884849" "subst" "0" "00006" "MLL3_000109" "g.151884849C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.152187764C>A" "" "pathogenic" "ACMG" "0000694887" "11" "50" "7" "151949756" "151949756" "subst" "0.00046863" "00006" "MLL3_000087" "g.151949756C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in ABCA13" "Germline" "" "" "0" "" "" "g.152252671C>A" "" "VUS" "ACMG" "0000694954" "0" "90" "7" "151810464" "152032715" "del" "0" "00006" "MLL3_000111" "g.(?_151810464)_(152032715_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694955" "0" "90" "7" "150017071" "152988408" "del" "0" "00006" "MLL3_000110" "g.(?_150017071)_(152988408_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694956" "0" "90" "7" "150021034" "153022042" "del" "0" "00006" "MLL3_000110" "g.(?_150021034)_(153022042_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694957" "0" "90" "7" "149415472" "153056008" "del" "0" "00006" "MLL3_000110" "g.(?_149415472)_(153056008_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694958" "0" "90" "7" "151065000" "155193924" "del" "0" "00006" "MLL3_000110" "g.(?_151065000)_(155193924_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects DPP6 gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694959" "0" "90" "7" "151810464" "155965323" "del" "0" "00006" "MLL3_000110" "g.(?_151810464)_(155965323_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DPP6, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694960" "0" "90" "7" "151927331" "156509592" "del" "0" "00006" "MLL3_000110" "g.(?_151927331)_(156509592_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DPP6, LMBR1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694961" "0" "90" "7" "151716918" "156484739" "del" "0" "00006" "MLL3_000110" "g.(?_151716918)_(156484739_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DPP6, LMBR1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694962" "0" "90" "7" "148255537" "153360454" "del" "0" "00006" "MLL3_000110" "g.(?_148255537)_(153360454_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects EZH2 gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694963" "0" "90" "7" "148705341" "154211006" "del" "0" "00006" "MLL3_000110" "g.(?_148705341)_(154211006_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects DPP6 gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694964" "0" "90" "7" "152121816" "159128555" "del" "0" "00006" "MLL3_000121" "g.(?_152121816)_(159128555_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 16:29678526-29683762, 16:62617503-62721696" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694965" "0" "90" "7" "149576889" "156661877" "del" "0" "00006" "MLL3_000110" "g.(?_149576889)_(156661877_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DPP6, LMBR1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694966" "0" "90" "7" "151664495" "159075079" "del" "0" "00006" "MLL3_000110" "g.(?_151664495)_(159075079_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 19:113418-920937" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694967" "0" "90" "7" "151672046" "159138663" "del" "0" "00006" "MLL3_000110" "g.(?_151672046)_(159138663_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 11:117797289-135006516" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694968" "0" "90" "7" "151166989" "159128529" "del" "0" "00006" "MLL3_000110" "g.(?_151166989)_(159128529_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694969" "21" "90" "7" "150911408" "159128529" "del" "0" "00006" "MLL3_000110" "g.(?_150911408)_(159128529_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 5:22179-57670, 8:118816775-118894264" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694970" "0" "90" "7" "150911249" "159128555" "del" "0" "00006" "MLL3_000110" "g.(?_150911249)_(159128555_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694971" "0" "90" "7" "150823994" "159118707" "del" "0" "00006" "MLL3_000110" "g.(?_150823994)_(159118707_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 9:28777159-28866561, 14:86914050-86956536, X:153740175-154929420" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694972" "0" "90" "7" "150655745" "159128555" "del" "0" "00006" "MLL3_000110" "g.(?_150655745)_(159128555_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 11:115029819-134868420" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694973" "0" "90" "7" "150217955" "158923949" "del" "0" "00006" "MLL3_000110" "g.(?_150217955)_(158923949_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694974" "0" "90" "7" "150019921" "159024633" "del" "0" "00006" "MLL3_000110" "g.(?_150019921)_(159024633_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694975" "0" "90" "7" "150019886" "159024633" "del" "0" "00006" "MLL3_000110" "g.(?_150019886)_(159024633_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694976" "0" "90" "7" "149545572" "159128529" "del" "0" "00006" "MLL3_000110" "g.(?_149545572)_(159128529_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694977" "0" "90" "7" "149330299" "159124478" "del" "0" "00006" "MLL3_000110" "g.(?_149330299)_(159124478_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH; individual carries other CNVs 1:174468247-174553410, 5:175714974-180696832, 7:122366615-122992258, 12:51235760-51398791" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694978" "0" "90" "7" "142745116" "152922260" "del" "0" "00006" "MLL3_000110" "g.(?_142745116)_(152922260_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CLCN1, CNTNAP2, EZH2" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694979" "0" "90" "7" "148877199" "159128663" "del" "0" "00006" "MLL3_000110" "g.(?_148877199)_(159128663_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694980" "0" "90" "7" "148779597" "159128529" "del" "0" "00006" "MLL3_000110" "g.(?_148779597)_(159128529_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes DNAJB6, DPP6, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694981" "0" "90" "7" "147889815" "159118444" "del" "0" "00006" "MLL3_000110" "g.(?_147889815)_(159118444_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694982" "0" "90" "7" "141983521" "154239067" "del" "0" "00006" "MLL3_000110" "g.(?_141983521)_(154239067_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CLCN1, CNTNAP2, DPP6, EZH2" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694983" "0" "90" "7" "141983521" "154239067" "del" "0" "00006" "MLL3_000110" "g.(?_141983521)_(154239067_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CLCN1, CNTNAP2, DPP6, EZH2" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694984" "0" "90" "7" "146328761" "159024633" "del" "0" "00006" "MLL3_000110" "g.(?_146328761)_(159024633_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH; individual carries other CNVs 17:43739782-43740328" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694985" "0" "90" "7" "144738996" "159124141" "del" "0" "00006" "MLL3_000110" "g.(?_144738996)_(159124141_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694986" "0" "90" "7" "144618049" "159119486" "del" "0" "00006" "MLL3_000110" "g.(?_144618049)_(159119486_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694987" "0" "90" "7" "142561592" "159088636" "del" "0" "00006" "MLL3_000110" "g.(?_142561592)_(159088636_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH; individual carries other CNVs 8:221611-19688007" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694988" "0" "90" "7" "135513102" "152676946" "del" "0" "00006" "MLL3_000110" "g.(?_135513102)_(152676946_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes BRAF, CLCN1, CNTNAP2, EZH2" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694989" "0" "90" "7" "141597965" "159128529" "del" "0" "00006" "MLL3_000110" "g.(?_141597965)_(159128529_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694990" "0" "90" "7" "141331213" "159128663" "del" "0" "00006" "MLL3_000110" "g.(?_141331213)_(159128663_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694991" "0" "90" "7" "137597659" "155397736" "del" "0" "00006" "MLL3_000110" "g.(?_137597659)_(155397736_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes BRAF, CLCN1, CNTNAP2, DPP6, EZH2" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694992" "0" "90" "7" "136274255" "159088636" "del" "0" "00006" "MLL3_000110" "g.(?_136274255)_(159088636_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes BRAF, CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694993" "0" "90" "7" "136175892" "159128555" "del" "0" "00006" "MLL3_000110" "g.(?_136175892)_(159128555_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes BRAF, CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694994" "0" "90" "7" "131660713" "159128663" "del" "0" "00006" "MLL3_000110" "g.(?_131660713)_(159128663_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects genes BRAF, CLCN1, CNTNAP2, DNAJB6, DPP6, EZH2, LMBR1, MNX1, SHH" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000721367" "0" "30" "7" "151836812" "151836812" "subst" "0" "01943" "MLL3_000122" "g.151836812G>C" "" "" "" "KMT2C(NM_170606.2):c.14408C>G (p.T4803S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721368" "0" "30" "7" "151842339" "151842339" "subst" "0.000694574" "02325" "MLL3_000123" "g.151842339G>A" "" "" "" "KMT2C(NM_170606.3):c.14073C>T (p.Y4691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721369" "0" "30" "7" "151875127" "151875127" "del" "0" "01943" "MLL3_000124" "g.151875127del" "" "" "" "KMT2C(NM_170606.2):c.7443-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721370" "0" "50" "7" "151878460" "151878460" "subst" "4.06865E-6" "02329" "MLL3_000036" "g.151878460G>A" "" "" "" "KMT2C(NM_170606.3):c.6485C>T (p.P2162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721371" "0" "50" "7" "151878507" "151878515" "dup" "0" "02325" "MLL3_000125" "g.151878507_151878515dup" "" "" "" "KMT2C(NM_170606.2):c.6430_6438dupTCTTATTCC (p.(Ser2144_Ser2146dup)), KMT2C(NM_170606.3):c.6430_6438dupTCTTATTCC (p.S2144_S2146dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721372" "0" "50" "7" "151878835" "151878835" "subst" "0" "02327" "MLL3_000126" "g.151878835T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721373" "0" "30" "7" "151879395" "151879395" "subst" "0" "01943" "MLL3_000127" "g.151879395T>C" "" "" "" "KMT2C(NM_170606.2):c.5550A>G (p.P1850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721374" "0" "50" "7" "151927023" "151927023" "subst" "0" "02326" "MLL3_000128" "g.151927023G>C" "" "" "" "KMT2C(NM_170606.3):c.2961C>G (p.Y987*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721375" "0" "50" "7" "151933014" "151933014" "subst" "0" "01943" "MLL3_000129" "g.151933014C>T" "" "" "" "KMT2C(NM_170606.2):c.2657G>A (p.R886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721376" "0" "50" "7" "151970789" "151970789" "subst" "0" "02329" "MLL3_000072" "g.151970789C>T" "" "" "" "KMT2C(NM_170606.3):c.1012+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803012" "0" "30" "7" "151848538" "151848538" "subst" "0.00287146" "01943" "MLL3_000130" "g.151848538G>C" "" "" "" "KMT2C(NM_170606.2):c.12655C>G (p.L4219V), KMT2C(NM_170606.3):c.12655C>G (p.(Leu4219Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803013" "0" "30" "7" "151859485" "151859485" "subst" "4.06058E-6" "01943" "MLL3_000131" "g.151859485T>C" "" "" "" "KMT2C(NM_170606.2):c.11177A>G (p.E3726G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803014" "0" "30" "7" "151859899" "151859899" "subst" "0.00272336" "01943" "MLL3_000132" "g.151859899G>A" "" "" "" "KMT2C(NM_170606.2):c.10763C>T (p.S3588L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803015" "0" "30" "7" "151859939" "151859939" "subst" "0.00028444" "01943" "MLL3_000133" "g.151859939T>C" "" "" "" "KMT2C(NM_170606.2):c.10723A>G (p.T3575A), KMT2C(NM_170606.3):c.10723A>G (p.(Thr3575Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803016" "0" "30" "7" "151860622" "151860622" "subst" "0.000310308" "01943" "MLL3_000134" "g.151860622T>C" "" "" "" "KMT2C(NM_170606.2):c.10040A>G (p.N3347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803017" "0" "30" "7" "151873400" "151873400" "subst" "0.000511721" "01943" "MLL3_000135" "g.151873400A>T" "" "" "" "KMT2C(NM_170606.2):c.9138T>A (p.L3046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803018" "0" "50" "7" "151873458" "151873458" "subst" "0" "01943" "MLL3_000136" "g.151873458C>A" "" "" "" "KMT2C(NM_170606.2):c.9080G>T (p.G3027V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803019" "0" "30" "7" "151875047" "151875047" "subst" "0.00665576" "01943" "MLL3_000030" "g.151875047G>A" "" "" "" "KMT2C(NM_170606.2):c.7491C>T (p.R2497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803020" "0" "30" "7" "151875126" "151875127" "del" "0" "01943" "MLL3_000137" "g.151875126_151875127del" "" "" "" "KMT2C(NM_170606.2):c.7443-7_7443-6delTT, KMT2C(NM_170606.3):c.7443-7_7443-6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803021" "0" "30" "7" "151877128" "151877128" "subst" "0.000820311" "01943" "MLL3_000138" "g.151877128T>C" "" "" "" "KMT2C(NM_170606.2):c.7233A>G (p.S2411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803022" "0" "50" "7" "151878706" "151878706" "subst" "0" "02325" "MLL3_000139" "g.151878706C>G" "" "" "" "KMT2C(NM_170606.3):c.6239G>C (p.R2080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803023" "0" "30" "7" "151878993" "151878993" "subst" "0.00279836" "01943" "MLL3_000140" "g.151878993T>G" "" "" "" "KMT2C(NM_170606.2):c.5952A>C (p.L1984=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803024" "0" "30" "7" "151879358" "151879358" "subst" "0.00210826" "01943" "MLL3_000141" "g.151879358G>C" "" "" "" "KMT2C(NM_170606.2):c.5587C>G (p.P1863A), KMT2C(NM_170606.3):c.5587C>G (p.P1863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803025" "0" "30" "7" "151879358" "151879358" "subst" "0.00210826" "02325" "MLL3_000141" "g.151879358G>C" "" "" "" "KMT2C(NM_170606.2):c.5587C>G (p.P1863A), KMT2C(NM_170606.3):c.5587C>G (p.P1863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803026" "0" "50" "7" "151900065" "151900065" "subst" "0" "02325" "MLL3_000142" "g.151900065C>T" "" "" "" "KMT2C(NM_170606.3):c.4046G>A (p.R1349Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803027" "0" "30" "7" "151919707" "151919707" "subst" "0.00105378" "01943" "MLL3_000143" "g.151919707G>A" "" "" "" "KMT2C(NM_170606.2):c.3384C>T (p.D1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803028" "0" "30" "7" "151932913" "151932913" "subst" "0" "01943" "MLL3_000144" "g.151932913C>T" "" "" "" "KMT2C(NM_170606.2):c.2758G>A (p.V920I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803029" "0" "30" "7" "151947959" "151947959" "subst" "0" "01943" "MLL3_000145" "g.151947959T>C" "" "" "" "KMT2C(NM_170606.2):c.1714A>G (p.T572A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803030" "0" "50" "7" "151949800" "151949800" "subst" "4.28379E-6" "01943" "MLL3_000146" "g.151949800T>G" "" "" "" "KMT2C(NM_170606.2):c.1300A>C (p.N434H), KMT2C(NM_170606.3):c.1300A>C (p.N434H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823705" "0" "70" "7" "151879278" "151879278" "dup" "0" "02494" "MLL3_000147" "g.151879278dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.152182193dup" "" "likely pathogenic (dominant)" "" "0000832506" "0" "70" "7" "151927344" "151927347" "dup" "0" "01164" "MLL3_000148" "g.151927344_151927347dup" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP" "De novo" "yes" "" "0" "" "" "g.152230259_152230262dup" "" "likely pathogenic (dominant)" "ACMG" "0000851541" "0" "50" "7" "151843713" "151843713" "subst" "2.43833E-5" "01943" "MLL3_000152" "g.151843713C>T" "" "" "" "KMT2C(NM_170606.2):c.14002G>A (p.V4668I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851542" "0" "50" "7" "151849862" "151849862" "subst" "0" "01943" "MLL3_000153" "g.151849862C>T" "" "" "" "KMT2C(NM_170606.2):c.12454G>A (p.A4152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851543" "0" "30" "7" "151849883" "151849883" "subst" "0.000158401" "01943" "MLL3_000154" "g.151849883G>A" "" "" "" "KMT2C(NM_170606.2):c.12433C>T (p.R4145C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851544" "0" "30" "7" "151860455" "151860455" "subst" "1.21821E-5" "02327" "MLL3_000156" "g.151860455G>A" "" "" "" "KMT2C(NM_170606.3):c.10207C>T (p.(Arg3403Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851545" "0" "50" "7" "152012255" "152012255" "subst" "0" "02329" "MLL3_000160" "g.152012255G>C" "" "" "" "KMT2C(NM_170606.3):c.558C>G (p.N186K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860699" "0" "50" "7" "151836340" "151836340" "subst" "0" "01943" "MLL3_000149" "g.151836340C>T" "" "" "" "KMT2C(NM_170606.2):c.14465G>A (p.R4822H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860700" "0" "30" "7" "151841891" "151841891" "subst" "1.62479E-5" "01943" "MLL3_000150" "g.151841891A>G" "" "" "" "KMT2C(NM_170606.2):c.14250T>C (p.Y4750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860701" "0" "50" "7" "151842337" "151842337" "subst" "0" "02329" "MLL3_000151" "g.151842337C>G" "" "" "" "KMT2C(NM_170606.3):c.14075G>C (p.G4692A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860702" "0" "90" "7" "151856112" "151856112" "subst" "0" "01943" "MLL3_000155" "g.151856112G>A" "" "" "" "KMT2C(NM_170606.2):c.11506C>T (p.Q3836*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860703" "0" "30" "7" "151873575" "151873575" "subst" "4.06157E-6" "01943" "MLL3_000157" "g.151873575T>A" "" "" "" "KMT2C(NM_170606.2):c.8963A>T (p.Q2988L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860704" "0" "30" "7" "151874709" "151874709" "subst" "0.000540339" "01943" "MLL3_000158" "g.151874709C>T" "" "" "" "KMT2C(NM_170606.2):c.7829G>A (p.R2610Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860705" "0" "30" "7" "151878194" "151878194" "subst" "1.21824E-5" "01943" "MLL3_000159" "g.151878194G>A" "" "" "" "KMT2C(NM_170606.2):c.6751C>T (p.L2251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860706" "0" "30" "7" "151880153" "151880153" "subst" "0.000166823" "02325" "MLL3_000039" "g.151880153C>A" "" "" "" "KMT2C(NM_170606.2):c.5171G>T (p.S1724I), KMT2C(NM_170606.3):c.5171G>T (p.(Ser1724Ile), p.S1724I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887759" "0" "10" "7" "151845766" "151845766" "subst" "0.000302658" "02325" "MLL3_000161" "g.151845766G>A" "" "" "" "KMT2C(NM_170606.3):c.13246C>T (p.P4416S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887760" "0" "30" "7" "151856112" "151856112" "subst" "0.000491474" "02325" "MLL3_000162" "g.151856112G>T" "" "" "" "KMT2C(NM_170606.3):c.11506C>A (p.Q3836K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887761" "0" "50" "7" "151864256" "151864256" "subst" "4.0622E-6" "02325" "MLL3_000163" "g.151864256C>T" "" "" "" "KMT2C(NM_170606.3):c.9725G>A (p.S3242N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887762" "0" "90" "7" "151878563" "151878563" "del" "0" "02329" "MLL3_000164" "g.151878563del" "" "" "" "KMT2C(NM_170606.3):c.6382delC (p.Q2128Rfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887763" "0" "50" "7" "151878862" "151878862" "subst" "4.06408E-6" "02325" "MLL3_000165" "g.151878862C>T" "" "" "" "KMT2C(NM_170606.3):c.6083G>A (p.R2028Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887764" "0" "30" "7" "151878907" "151878907" "subst" "2.43748E-5" "02325" "MLL3_000166" "g.151878907C>T" "" "" "" "KMT2C(NM_170606.3):c.6038G>A (p.(Arg2013Lys), p.R2013K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887765" "0" "70" "7" "151921190" "151921190" "subst" "0" "02325" "MLL3_000167" "g.151921190C>T" "" "" "" "KMT2C(NM_170606.3):c.3233G>A (p.C1078Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887766" "0" "30" "7" "151927115" "151927115" "subst" "0" "02325" "MLL3_000168" "g.151927115G>A" "" "" "" "KMT2C(NM_170606.3):c.2872-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887767" "0" "30" "7" "151949698" "151949698" "subst" "0.000757082" "02325" "MLL3_000169" "g.151949698G>T" "" "" "" "KMT2C(NM_170606.3):c.1402C>A (p.P468T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887768" "0" "50" "7" "151949800" "151949800" "subst" "4.28379E-6" "02329" "MLL3_000146" "g.151949800T>G" "" "" "" "KMT2C(NM_170606.2):c.1300A>C (p.N434H), KMT2C(NM_170606.3):c.1300A>C (p.N434H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887769" "0" "50" "7" "151960114" "151960114" "subst" "0" "02327" "MLL3_000170" "g.151960114C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887770" "0" "30" "7" "151962265" "151962265" "subst" "0" "02325" "MLL3_000068" "g.151962265C>T" "" "" "" "KMT2C(NM_170606.2):c.1042G>A (p.(Asp348Asn)), KMT2C(NM_170606.3):c.1042G>A (p.D348N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887771" "0" "30" "7" "151962290" "151962290" "subst" "0" "02325" "MLL3_000069" "g.151962290C>G" "" "" "" "KMT2C(NM_170606.2):c.1017G>C (p.(Lys339Asn)), KMT2C(NM_170606.3):c.1017G>C (p.K339N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912697" "0" "70" "7" "151859391" "151859391" "del" "0" "02329" "MLL3_000171" "g.151859391del" "" "" "" "KMT2C(NM_170606.3):c.11271delG (p.S3758Vfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912698" "0" "30" "7" "151878575" "151878575" "subst" "8.12645E-6" "02327" "MLL3_000172" "g.151878575T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912699" "0" "50" "7" "151884446" "151884446" "subst" "0" "02325" "MLL3_000173" "g.151884446G>C" "" "" "" "KMT2C(NM_170606.3):c.4909C>G (p.L1637V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912700" "0" "30" "7" "151933009" "151933009" "subst" "0.000245656" "02325" "MLL3_000174" "g.151933009A>T" "" "" "" "KMT2C(NM_170606.3):c.2662T>A (p.(Ser888Thr), p.S888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924680" "0" "50" "7" "151879084" "151879086" "del" "0" "02325" "MLL3_000175" "g.151879084_151879086del" "" "" "" "KMT2C(NM_170606.3):c.5865_5867delTTC (p.S1956del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935927" "0" "70" "7" "151962290" "151962290" "subst" "0" "00006" "MLL3_000069" "g.151962290C>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PS2,PM2,PM6,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.152265205C>G" "" "likely pathogenic (dominant)" "ACMG" "0000935928" "0" "90" "7" "151932961" "151932961" "subst" "0.00140115" "00006" "MLL3_000176" "g.151932961G>A" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.152235876G>A" "" "pathogenic (dominant)" "ACMG" "0000936000" "0" "90" "7" "151927023" "151927023" "subst" "0" "00006" "MLL3_000128" "g.151927023G>C" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.152229938G>C" "" "pathogenic (dominant)" "" "0000943894" "0" "10" "7" "151932945" "151932945" "subst" "0" "03779" "MLL3_000177" "g.151932945C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs199504848" "0" "" "" "" "" "benign" "" "0000948891" "0" "50" "7" "151960162" "151960162" "subst" "0" "02325" "MLL3_000178" "g.151960162T>C" "" "" "" "KMT2C(NM_170606.3):c.1238A>G (p.Y413C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964513" "0" "70" "7" "151877154" "151877154" "subst" "4.06147E-6" "02329" "MLL3_000034" "g.151877154G>A" "" "" "" "KMT2C(NM_170606.2):c.7207C>T (p.(Arg2403Ter)), KMT2C(NM_170606.3):c.7207C>T (p.R2403*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964514" "0" "10" "7" "151878606" "151878606" "subst" "0.00598223" "02326" "MLL3_000181" "g.151878606T>G" "" "" "" "KMT2C(NM_170606.3):c.6339A>C (p.S2113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964515" "0" "50" "7" "151900039" "151900039" "subst" "3.29107E-5" "02325" "MLL3_000182" "g.151900039T>C" "" "" "" "KMT2C(NM_170606.3):c.4072A>G (p.T1358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964516" "0" "70" "7" "151917611" "151917611" "subst" "4.06815E-6" "02325" "MLL3_000183" "g.151917611G>A" "" "" "" "KMT2C(NM_170606.3):c.3709C>T (p.R1237*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964523" "0" "10" "7" "152055765" "152055765" "dup" "0" "02329" "MLL3_000185" "g.152055765dup" "" "" "" "KMT2C(NM_170606.3):c.162-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964525" "0" "50" "7" "152132762" "152132762" "subst" "6.52452E-6" "02325" "MLL3_000187" "g.152132762C>G" "" "" "" "KMT2C(NM_170606.3):c.110G>C (p.R37P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977579" "0" "30" "7" "151842383" "151842383" "subst" "0" "01804" "MLL3_000188" "g.151842383G>A" "" "" "" "KMT2C(NM_170606.3):c.14032-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977580" "0" "30" "7" "151846465" "151846465" "subst" "0" "01804" "MLL3_000189" "g.151846465G>A" "" "" "" "KMT2C(NM_170606.3):c.12775-228C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977581" "0" "30" "7" "151856069" "151856069" "subst" "2.84315E-5" "01804" "MLL3_000190" "g.151856069C>T" "" "" "" "KMT2C(NM_170606.3):c.11549G>A (p.(Arg3850Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977582" "0" "30" "7" "151859633" "151859633" "subst" "4.06065E-5" "01804" "MLL3_000191" "g.151859633A>G" "" "" "" "KMT2C(NM_170606.3):c.11029T>C (p.(Cys3677Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977583" "0" "30" "7" "151859705" "151859705" "subst" "4.0623E-5" "01804" "MLL3_000192" "g.151859705G>A" "" "" "" "KMT2C(NM_170606.2):c.10957C>T (p.(Pro3653Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977584" "0" "30" "7" "151860332" "151860332" "subst" "2.43637E-5" "01804" "MLL3_000193" "g.151860332T>A" "" "" "" "KMT2C(NM_170606.3):c.10330A>T (p.(Ser3444Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977585" "0" "30" "7" "151860455" "151860455" "subst" "1.21821E-5" "01804" "MLL3_000156" "g.151860455G>A" "" "" "" "KMT2C(NM_170606.3):c.10207C>T (p.(Arg3403Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977586" "0" "30" "7" "151860638" "151860638" "subst" "4.52884E-5" "01804" "MLL3_000194" "g.151860638C>A" "" "" "" "KMT2C(NM_170606.3):c.10024G>T (p.(Ala3342Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977587" "0" "30" "7" "151864411" "151864411" "subst" "4.87726E-5" "01804" "MLL3_000195" "g.151864411C>T" "" "" "" "KMT2C(NM_170606.3):c.9570G>A (p.(Leu3190=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977588" "0" "50" "7" "151873543" "151873543" "subst" "2.43659E-5" "01804" "MLL3_000196" "g.151873543T>C" "" "" "" "KMT2C(NM_170606.3):c.8995A>G (p.(Thr2999Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977589" "0" "50" "7" "151874340" "151874340" "subst" "0" "01804" "MLL3_000197" "g.151874340T>A" "" "" "" "KMT2C(NM_170606.3):c.8198A>T (p.(Asp2733Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977590" "0" "30" "7" "151875100" "151875100" "dup" "0" "02325" "MLL3_000198" "g.151875100dup" "" "" "" "KMT2C(NM_170606.2):c.7443-2dupA (p.?), KMT2C(NM_170606.3):c.7443-2dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977591" "0" "70" "7" "151877819" "151877819" "del" "0" "02329" "MLL3_000199" "g.151877819del" "" "" "" "KMT2C(NM_170606.3):c.7126delG (p.A2376Qfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977592" "0" "30" "7" "151877987" "151877987" "subst" "0" "01804" "MLL3_000200" "g.151877987G>C" "" "" "" "KMT2C(NM_170606.3):c.6958C>G (p.(His2320Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977593" "0" "30" "7" "151878109" "151878109" "subst" "0.000142194" "01804" "MLL3_000035" "g.151878109G>A" "" "" "" "KMT2C(NM_170606.2):c.6836C>T (p.P2279L), KMT2C(NM_170606.3):c.6836C>T (p.(Pro2279Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977594" "0" "50" "7" "151878507" "151878515" "dup" "0" "01804" "MLL3_000125" "g.151878507_151878515dup" "" "" "" "KMT2C(NM_170606.2):c.6430_6438dupTCTTATTCC (p.(Ser2144_Ser2146dup)), KMT2C(NM_170606.3):c.6430_6438dupTCTTATTCC (p.S2144_S2146dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977595" "0" "50" "7" "151878646" "151878646" "subst" "2.03222E-5" "01804" "MLL3_000201" "g.151878646G>A" "" "" "" "KMT2C(NM_170606.3):c.6299C>T (p.(Thr2100Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977596" "0" "30" "7" "151878988" "151878988" "subst" "5.2809E-5" "02325" "MLL3_000202" "g.151878988C>T" "" "" "" "KMT2C(NM_170606.3):c.5957G>A (p.R1986Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977597" "0" "30" "7" "151879153" "151879153" "subst" "6.90989E-5" "01804" "MLL3_000203" "g.151879153G>A" "" "" "" "KMT2C(NM_170606.3):c.5792C>T (p.(Ser1931Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977598" "0" "30" "7" "151880153" "151880153" "subst" "0.000166823" "01804" "MLL3_000039" "g.151880153C>A" "" "" "" "KMT2C(NM_170606.2):c.5171G>T (p.S1724I), KMT2C(NM_170606.3):c.5171G>T (p.(Ser1724Ile), p.S1724I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977599" "0" "30" "7" "151891184" "151891184" "subst" "2.7649E-5" "01804" "MLL3_000204" "g.151891184A>G" "" "" "" "KMT2C(NM_170606.3):c.4570T>C (p.(Phe1524Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977600" "0" "50" "7" "151896409" "151896409" "subst" "0" "01804" "MLL3_000205" "g.151896409G>A" "" "" "" "KMT2C(NM_170606.3):c.4228C>T (p.(Pro1410Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977601" "0" "30" "7" "151927025" "151927025" "subst" "0" "01804" "MLL3_000206" "g.151927025A>G" "" "" "" "KMT2C(NM_170606.3):c.2959T>C (p.(Tyr987His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977602" "0" "30" "7" "151933009" "151933009" "subst" "0.000245656" "01804" "MLL3_000174" "g.151933009A>T" "" "" "" "KMT2C(NM_170606.3):c.2662T>A (p.(Ser888Thr), p.S888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977603" "0" "30" "7" "151935112" "151935112" "del" "0" "01804" "MLL3_000207" "g.151935112del" "" "" "" "KMT2C(NM_170606.3):c.2652+680del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977604" "0" "30" "7" "151935254" "151935254" "subst" "0" "01804" "MLL3_000208" "g.151935254A>T" "" "" "" "KMT2C(NM_170606.3):c.2652+538T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977605" "0" "50" "7" "151935853" "151935853" "subst" "0" "01804" "MLL3_000209" "g.151935853T>C" "" "" "" "KMT2C(NM_170606.3):c.2591A>G (p.(Glu864Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977606" "0" "30" "7" "151937376" "151937376" "subst" "0" "01804" "MLL3_000210" "g.151937376T>C" "" "" "" "KMT2C(NM_170606.3):c.2533-1465A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977607" "0" "30" "7" "151937407" "151937407" "subst" "0" "01804" "MLL3_000211" "g.151937407G>C" "" "" "" "KMT2C(NM_170606.3):c.2533-1496C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977608" "0" "30" "7" "151944638" "151944638" "subst" "0" "01804" "MLL3_000212" "g.151944638T>C" "" "" "" "KMT2C(NM_170606.3):c.2532+349A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977609" "0" "30" "7" "151945007" "151945007" "subst" "0" "01804" "MLL3_000213" "g.151945007C>T" "" "" "" "KMT2C(NM_170606.3):c.2512G>A (p.(Gly838Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977610" "0" "30" "7" "151945228" "151945228" "subst" "1.23378E-5" "01804" "MLL3_000214" "g.151945228G>T" "" "" "" "KMT2C(NM_170606.3):c.2291C>A (p.(Ser764Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977611" "0" "30" "7" "151949737" "151949737" "subst" "4.07226E-6" "01804" "MLL3_000215" "g.151949737T>G" "" "" "" "KMT2C(NM_170606.3):c.1363A>C (p.(Ile455Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977612" "0" "50" "7" "151949788" "151949788" "subst" "0" "01804" "MLL3_000216" "g.151949788A>G" "" "" "" "KMT2C(NM_170606.3):c.1312T>C (p.(Cys438Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977613" "0" "50" "7" "151978673" "151978673" "subst" "0" "01804" "MLL3_000217" "g.151978673T>C" "" "" "" "KMT2C(NM_170606.3):c.850-7721A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977614" "0" "50" "7" "151979197" "151979197" "subst" "0" "01804" "MLL3_000218" "g.151979197T>C" "" "" "" "KMT2C(NM_170606.3):c.850-8245A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977615" "0" "30" "7" "151982836" "151982836" "subst" "0" "01804" "MLL3_000219" "g.151982836A>G" "" "" "" "KMT2C(NM_170606.3):c.850-11884T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977616" "0" "30" "7" "151982848" "151982848" "subst" "0" "01804" "MLL3_000220" "g.151982848C>T" "" "" "" "KMT2C(NM_170606.3):c.850-11896G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977617" "0" "50" "7" "152008900" "152008900" "subst" "2.03565E-5" "02325" "MLL3_000090" "g.152008900G>C" "" "" "" "KMT2C(NM_170606.2):c.722C>G (p.A241G, p.(Ala241Gly)), KMT2C(NM_170606.3):c.722C>G (p.A241G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977618" "0" "30" "7" "152009009" "152009009" "subst" "0" "01804" "MLL3_000221" "g.152009009T>C" "" "" "" "KMT2C(NM_170606.3):c.613A>G (p.(Ile205Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977619" "0" "50" "7" "152078387" "152078387" "subst" "0" "01804" "MLL3_000222" "g.152078387C>G" "" "" "" "KMT2C(NM_170606.3):c.162-22627G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977620" "0" "30" "7" "152078446" "152078446" "subst" "0" "01804" "MLL3_000223" "g.152078446G>A" "" "" "" "KMT2C(NM_170606.3):c.162-22686C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977621" "0" "30" "7" "152078458" "152078458" "subst" "0" "01804" "MLL3_000224" "g.152078458C>T" "" "" "" "KMT2C(NM_170606.3):c.162-22698G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977622" "0" "30" "7" "152079794" "152079794" "subst" "0" "01804" "MLL3_000225" "g.152079794G>T" "" "" "" "KMT2C(NM_170606.3):c.162-24034C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977623" "0" "30" "7" "152079802" "152079802" "subst" "0" "01804" "MLL3_000226" "g.152079802A>G" "" "" "" "KMT2C(NM_170606.3):c.162-24042T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989509" "21" "90" "7" "151891591" "151891591" "subst" "0" "00006" "MLL3_000266" "g.151891591G>A" "" "{PMID:Kleefstra 2012:22726846}" "" "" "" "De novo" "" "" "0" "" "" "g.152194506G>A" "" "pathogenic (dominant)" "" "0000989515" "0" "90" "7" "151880109" "151880109" "del" "0" "00006" "MLL3_000264" "g.151880109del" "" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "De novo" "" "" "0" "" "" "g.152183024del" "" "pathogenic (dominant)" "" "0000989516" "0" "90" "7" "151874988" "151874988" "subst" "0" "00006" "MLL3_000256" "g.151874988G>C" "" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "0.30 mosaic in blood cells" "De novo" "" "" "0" "" "" "g.152177903G>C" "" "pathogenic (dominant)" "" "0000989517" "0" "90" "7" "151947983" "151947983" "subst" "0" "00006" "MLL3_000060" "g.151947983T>A" "" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "De novo" "" "" "0" "" "" "g.152250898T>A" "" "pathogenic (dominant)" "" "0000989518" "0" "90" "7" "151859850" "151859853" "del" "0" "00006" "MLL3_000241" "g.151859850_151859853del" "" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "De novo" "" "" "0" "" "" "g.152162765_152162768del" "" "pathogenic (dominant)" "" "0000989519" "0" "90" "7" "151859847" "151859850" "del" "0" "00006" "MLL3_000228" "g.(?_151859847)_(151859850_?)del" "" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "chr7:(151858920–152062163)x1" "203kb deletion KMT2C exon 2-43" "De novo" "" "" "0" "" "" "g.(?_152161835)_(152365078_?)del" "" "pathogenic (dominant)" "" "0000989554" "0" "70" "7" "151878530" "151878530" "subst" "4.06653E-6" "00006" "MLL3_000259" "g.151878530G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.152181445G>A" "" "likely pathogenic" "" "0000989555" "0" "90" "7" "151860749" "151860749" "del" "0" "00006" "MLL3_000244" "g.151860749del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "9915delC" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152163664del" "" "pathogenic (dominant)" "" "0000989556" "0" "90" "7" "151851508" "151851508" "subst" "0" "00006" "MLL3_000008" "g.151851508G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152154423G>A" "" "pathogenic (dominant)" "" "0000989557" "0" "90" "7" "151879460" "151879464" "del" "0" "00006" "MLL3_000262" "g.151879460_151879464del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "5481_5485delAGAAC" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152182375_152182379del" "" "pathogenic (dominant)" "" "0000989558" "0" "90" "7" "151919701" "151919701" "dup" "0" "00006" "MLL3_000271" "g.151919701dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152222616dup" "" "pathogenic (dominant)" "" "0000989559" "0" "90" "7" "151864363" "151864363" "dup" "0" "00006" "MLL3_000246" "g.151864363dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152167278dup" "" "pathogenic (dominant)" "" "0000989560" "0" "90" "7" "151866316" "151866316" "subst" "0" "00006" "MLL3_000248" "g.151866316G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152169231G>A" "" "pathogenic (dominant)" "" "0000989561" "0" "90" "7" "151874156" "151874156" "dup" "0" "00006" "MLL3_000026" "g.151874156dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8390dupA" "ACMG PVS1, PM2_sup, PS4_sup" "De novo" "yes" "" "0" "" "" "g.152177071dup" "" "pathogenic (dominant)" "" "0000989562" "0" "70" "7" "151868413" "152030864" "del" "0" "00006" "MLL3_000249" "g.(?_151868413)_(152030864_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151868413_152030864del" "162kb deletion KMT2C ex3-39; ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.(?_152171328)_(152333779_?)del" "" "likely pathogenic" "" "0000989563" "0" "90" "7" "151874156" "151874156" "dup" "0" "00006" "MLL3_000026" "g.151874156dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8390dupA" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152177071dup" "" "pathogenic (dominant)" "" "0000989564" "0" "90" "7" "151860078" "151860078" "del" "0" "00006" "MLL3_000012" "g.151860078del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152162993del" "" "pathogenic (dominant)" "" "0000989565" "0" "70" "7" "151856053" "151856054" "del" "0" "00006" "MLL3_000098" "g.151856053_151856054del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.152158968_152158969del" "" "likely pathogenic" "" "0000989566" "0" "90" "7" "151873688" "151873689" "del" "0" "00006" "MLL3_000108" "g.151873688_151873689del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8849_8850delAT" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152176603_152176604del" "" "pathogenic (dominant)" "" "0000989567" "0" "70" "7" "151873688" "151873689" "del" "0" "00006" "MLL3_000108" "g.151873688_151873689del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8849_8850delAT" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.152176603_152176604del" "" "likely pathogenic" "" "0000989568" "0" "90" "7" "151960225" "151960238" "del" "0" "00006" "MLL3_000277" "g.151960225_151960238del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PS2_sup, PS3" "De novo" "yes" "" "0" "" "" "g.152263140_152263153del" "" "pathogenic (dominant)" "" "0000989569" "0" "90" "7" "151878009" "151878009" "dup" "0" "00006" "MLL3_000258" "g.151878009dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152180924dup" "" "pathogenic (dominant)" "" "0000989570" "0" "90" "7" "152012337" "152012349" "del" "0" "00006" "MLL3_000281" "g.152012337_152012349del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152315252_152315264del" "" "pathogenic (dominant)" "" "0000989571" "0" "90" "7" "151874313" "151874314" "dup" "0" "00006" "MLL3_000254" "g.151874313_151874314dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8224_8225dupGA" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152177228_152177229dup" "" "pathogenic (dominant)" "" "0000989572" "0" "70" "7" "151865502" "152071048" "del" "0" "00006" "MLL3_000247" "g.(?_151865502)_(152071048_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151865502_152071048del" "205kb deletion KMT2C ex2-41; ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_152168417)_(152373963_?)del" "" "likely pathogenic (dominant)" "" "0000989573" "0" "90" "7" "151919123" "151919123" "del" "0" "00006" "MLL3_000270" "g.151919123del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "3462delA" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152222038del" "" "pathogenic (dominant)" "" "0000989574" "0" "90" "7" "151873996" "151873996" "del" "0" "00006" "MLL3_000251" "g.151873996del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8543delA" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152176911del" "" "pathogenic (dominant)" "" "0000989575" "0" "90" "7" "151945655" "151945655" "subst" "0" "00006" "MLL3_000274" "g.151945655C>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152248570C>A" "" "pathogenic (dominant)" "" "0000989576" "0" "90" "7" "151848610" "151848610" "del" "0" "00006" "MLL3_000240" "g.151848610del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "12584delC" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152151525del" "" "pathogenic (dominant)" "" "0000989577" "0" "90" "7" "151927361" "151927362" "del" "0" "00006" "MLL3_000272" "g.151927361_151927362del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152230276_152230277del" "" "pathogenic (dominant)" "" "0000989578" "0" "90" "7" "151836877" "151836877" "subst" "0" "00006" "MLL3_000230" "g.151836877C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152139792C>T" "" "pathogenic (dominant)" "" "0000989579" "0" "90" "7" "151878749" "151878749" "subst" "4.06693E-6" "00006" "MLL3_000260" "g.151878749G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "De novo" "yes" "" "0" "" "" "g.152181664G>A" "" "pathogenic (dominant)" "" "0000989580" "0" "70" "7" "151919085" "151919085" "subst" "0" "00006" "MLL3_000269" "g.151919085C>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "De novo" "yes" "" "0" "" "" "g.152222000C>A" "" "likely pathogenic (dominant)" "" "0000989581" "0" "90" "7" "151891591" "151891591" "subst" "0" "00006" "MLL3_000266" "g.151891591G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152194506G>A" "" "pathogenic (dominant)" "" "0000989582" "0" "90" "7" "151874143" "151874143" "subst" "0" "00006" "MLL3_000253" "g.151874143G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.152177058G>A" "" "pathogenic" "" "0000989583" "0" "90" "7" "151879543" "151879544" "del" "0" "00006" "MLL3_000263" "g.151879543_151879544del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152182458_152182459del" "" "pathogenic (dominant)" "" "0000989584" "0" "90" "7" "152027768" "152027768" "subst" "0" "00006" "MLL3_000283" "g.152027768G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1,PM2_sup,PS2_sup" "De novo" "yes" "" "0" "" "" "g.152330683G>A" "" "pathogenic (dominant)" "" "0000989585" "0" "90" "7" "151845391" "151845391" "subst" "0" "00006" "MLL3_000236" "g.151845391G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152148306G>A" "" "pathogenic (dominant)" "" "0000989586" "0" "90" "7" "151851508" "151851508" "subst" "0" "00006" "MLL3_000008" "g.151851508G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152154423G>A" "" "pathogenic (dominant)" "" "0000989587" "0" "70" "7" "151878530" "151878530" "subst" "4.06653E-6" "00006" "MLL3_000259" "g.151878530G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152181445G>A" "" "likely pathogenic (dominant)" "" "0000989588" "0" "90" "7" "152012359" "152012359" "del" "0" "00006" "MLL3_000282" "g.152012359del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "454delC" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152315274del" "" "pathogenic (dominant)" "" "0000989589" "0" "90" "7" "151879206" "151879206" "dup" "0" "00006" "MLL3_000261" "g.151879206dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.152182121dup" "" "pathogenic" "" "0000989590" "0" "90" "7" "151879206" "151879206" "dup" "0" "00006" "MLL3_000261" "g.151879206dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152182121dup" "" "pathogenic (dominant)" "" "0000989591" "0" "90" "7" "151874143" "151874143" "subst" "0" "00006" "MLL3_000253" "g.151874143G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152177058G>A" "" "pathogenic (dominant)" "" "0000989592" "0" "90" "7" "151845904" "151845905" "dup" "0" "00006" "MLL3_000239" "g.151845904_151845905dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152148819_152148820dup" "" "pathogenic (dominant)" "" "0000989593" "0" "90" "7" "151845394" "151845394" "subst" "0" "00006" "MLL3_000237" "g.151845394G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152148309G>A" "" "pathogenic (dominant)" "" "0000989594" "0" "70" "7" "151876918" "151879680" "del" "0" "00006" "MLL3_000257" "g.(?_151876918)_(151879680_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151876918_151879680del" "3kb deletion KMT2C ex36-37; ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.(?_152179833)_(152182595_?)del" "" "likely pathogenic" "" "0000989595" "0" "70" "7" "151876918" "151879680" "del" "0" "00006" "MLL3_000257" "g.(?_151876918)_(151879680_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151876918_151879680del" "3kb deletion KMT2C ex36-37; ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.(?_152179833)_(152182595_?)del" "" "likely pathogenic" "" "0000989596" "0" "70" "7" "151876918" "151879680" "del" "0" "00006" "MLL3_000257" "g.(?_151876918)_(151879680_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151876918_151879680del" "3kb deletion KMT2C ex36-37; ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_152179833)_(152182595_?)del" "" "likely pathogenic (dominant)" "" "0000989597" "0" "70" "7" "151842335" "151842335" "subst" "0" "00006" "MLL3_000232" "g.151842335G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152145250G>A" "" "likely pathogenic (dominant)" "" "0000989598" "0" "90" "7" "151874072" "151874072" "dup" "0" "00006" "MLL3_000252" "g.151874072dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152176987dup" "" "pathogenic (dominant)" "" "0000989599" "0" "90" "7" "151874072" "151874072" "dup" "0" "00006" "MLL3_000252" "g.151874072dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152176987dup" "" "pathogenic (dominant)" "" "0000989600" "0" "90" "7" "151935482" "154215665" "del" "0" "00006" "MLL3_000273" "g.(?_151935482)_(154215665_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151935482_154215665del" "2,300kb deletion KMT2C ex1-15, XRCC2, ACTR3B, FABP5P3 and DPP6 ex1-3; ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.(?_152238397)_(154518580_?)del" "" "pathogenic (dominant)" "" "0000989601" "0" "90" "7" "151856112" "151856112" "subst" "0" "00006" "MLL3_000155" "g.151856112G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152159027G>A" "" "pathogenic (dominant)" "" "0000989602" "0" "70" "7" "151970789" "151970789" "subst" "0" "00006" "MLL3_000279" "g.151970789C>G" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152273704C>G" "" "likely pathogenic (dominant)" "" "0000989603" "0" "90" "7" "151962295" "151962295" "subst" "0" "00006" "MLL3_000278" "g.151962295C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152265210C>T" "" "pathogenic (dominant)" "" "0000989604" "0" "90" "7" "151917086" "151979085" "del" "0" "00006" "MLL3_000267" "g.(?_151917086)_(151979085_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151917086_151979085del" "62kb deletion KMT2C ex2-23; ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.(?_152220001)_(152282000_?)del" "" "pathogenic (dominant)" "" "0000989605" "0" "70" "7" "151859937" "151859938" "dup" "0" "00006" "MLL3_000242" "g.151859937_151859938dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "10724_10725dupCT" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152162852_152162853dup" "" "likely pathogenic (dominant)" "" "0000989606" "0" "70" "7" "151836762" "151836762" "subst" "0" "00006" "MLL3_000229" "g.151836762G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.152139677G>A" "" "likely pathogenic" "" "0000989607" "0" "70" "7" "151841806" "151841806" "subst" "0" "00006" "MLL3_000231" "g.151841806G>C" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.152144721G>C" "" "likely pathogenic (dominant)" "" "0000989608" "0" "70" "7" "151877903" "151877903" "subst" "0" "00006" "MLL3_000101" "g.151877903G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.152180818G>A" "" "likely pathogenic" "" "0000989609" "0" "70" "7" "151873591" "152055129" "dup" "0" "00006" "MLL3_000250" "g.(?_151873591)_(152055129_?)dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151873591_152055129dup" "duplication KMT2C ex3-38 (frameshift if in tandem)" "De novo" "yes" "" "0" "" "" "g.(?_152176506)_(152358044_?)dup" "" "likely pathogenic (dominant)" "" "0000989610" "0" "90" "7" "151874156" "151874156" "dup" "0" "00006" "MLL3_000026" "g.151874156dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8390dupA" "ACMG PVS1, PM2_sup, PS4_mod" "Germline" "" "" "0" "" "" "g.152177071dup" "" "pathogenic" "" "0000989611" "0" "90" "7" "151874156" "151874156" "dup" "0" "00006" "MLL3_000026" "g.151874156dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "8390dupA" "ACMG PVS1, PM2_sup, PS4_mod" "Germline/De novo (untested)" "" "" "0" "" "" "g.152177071dup" "" "pathogenic (dominant)" "" "0000989612" "0" "90" "7" "151843679" "151843679" "subst" "0" "00006" "MLL3_000234" "g.151843679C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup,PS2_sup" "De novo" "yes" "" "0" "" "" "g.152146594C>T" "" "pathogenic (dominant)" "" "0000989613" "0" "70" "7" "151874710" "151874710" "subst" "0" "00006" "MLL3_000255" "g.151874710G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152177625G>A" "" "likely pathogenic (dominant)" "" "0000989614" "0" "70" "7" "151992170" "152048087" "del" "0" "00006" "MLL3_000280" "g.(?_151992170)_(152048087_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151992170_152048087del" "56kb deletion KMT2C ex3-6; ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_152295085)_(152351002_?)del" "" "likely pathogenic (dominant)" "" "0000989615" "0" "90" "7" "151949769" "151949769" "del" "0" "00006" "MLL3_000275" "g.151949769del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "1332delG" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152252684del" "" "pathogenic (dominant)" "" "0000989616" "0" "90" "7" "151890985" "151994781" "del" "0" "00006" "MLL3_000265" "g.(?_151890985)_(151994781_?)del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "hg19 151890985_151994781del" "104kb deletion KMT2C ex7-31; ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.(?_152193900)_(152297696_?)del" "" "pathogenic (dominant)" "" "0000989617" "0" "90" "7" "151860773" "151860773" "del" "0" "00006" "MLL3_000245" "g.151860773del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "9891delC" "ACMG PVS1, PM2_sup, PM6_sup" "De novo" "yes" "" "0" "" "" "g.152163688del" "" "pathogenic (dominant)" "" "0000989618" "0" "90" "7" "151917746" "151917746" "del" "0" "00006" "MLL3_000268" "g.151917746del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152220661del" "" "pathogenic (dominant)" "" "0000989619" "0" "70" "7" "151921190" "151921190" "subst" "0" "00006" "MLL3_000167" "g.151921190C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "De novo" "yes" "" "0" "" "" "g.152224105C>T" "" "likely pathogenic (dominant)" "" "0000989620" "0" "70" "7" "151845783" "151845783" "subst" "0" "00006" "MLL3_000238" "g.151845783T>C" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.152148698T>C" "" "likely pathogenic (dominant)" "" "0000989621" "0" "90" "7" "151860288" "151860288" "dup" "0" "00006" "MLL3_000243" "g.151860288dup" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152163203dup" "" "pathogenic (dominant)" "" "0000989622" "0" "90" "7" "151842339" "151842339" "subst" "4.06184E-6" "00006" "MLL3_000233" "g.151842339G>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup, PS2_sup" "De novo" "yes" "" "0" "" "" "g.152145254G>T" "" "pathogenic (dominant)" "" "0000989623" "0" "70" "7" "151960147" "151960163" "del" "0" "00006" "MLL3_000276" "g.151960147_151960163del" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152263062_152263078del" "" "likely pathogenic (dominant)" "" "0000989624" "0" "70" "7" "151845229" "151845229" "subst" "0" "00006" "MLL3_000235" "g.151845229G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "De novo" "yes" "" "0" "" "" "g.152148144G>A" "" "likely pathogenic (dominant)" "" "0000989625" "0" "70" "7" "151877903" "151877903" "subst" "0" "00006" "MLL3_000101" "g.151877903G>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "ACMG PVS1, PM2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.152180818G>A" "" "likely pathogenic (dominant)" "" "0000996306" "0" "30" "7" "151845223" "151845223" "subst" "1.62644E-5" "01804" "MLL3_000284" "g.151845223G>A" "" "" "" "KMT2C(NM_170606.2):c.13789C>T (p.(Arg4597Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996307" "0" "50" "7" "151846128" "151846128" "subst" "0" "01804" "MLL3_000285" "g.151846128A>G" "" "" "" "KMT2C(NM_170606.2):c.12884T>C (p.(Leu4295Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996308" "0" "30" "7" "151846197" "151846197" "subst" "1.20389E-5" "01804" "MLL3_000286" "g.151846197G>A" "" "" "" "KMT2C(NM_170606.2):c.12815C>T (p.(Thr4272Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996309" "0" "70" "7" "151848527" "151848527" "del" "0" "01804" "MLL3_000287" "g.151848527del" "" "" "" "KMT2C(NM_170606.2):c.12666+1delG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996310" "0" "30" "7" "151849792" "151849792" "subst" "2.43831E-5" "01804" "MLL3_000288" "g.151849792T>C" "" "" "" "KMT2C(NM_170606.2):c.12524A>G (p.(Asn4175Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996311" "0" "30" "7" "151849873" "151849873" "subst" "2.43718E-5" "01804" "MLL3_000289" "g.151849873G>A" "" "" "" "KMT2C(NM_170606.2):c.12443C>T (p.(Pro4148Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996312" "0" "30" "7" "151849946" "151849946" "subst" "1.62471E-5" "01804" "MLL3_000290" "g.151849946T>C" "" "" "" "KMT2C(NM_170606.2):c.12370A>G (p.(Met4124Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996313" "0" "30" "7" "151853097" "151853097" "subst" "0" "01804" "MLL3_000291" "g.151853097G>A" "" "" "" "KMT2C(NM_170606.2):c.11858C>T (p.(Pro3953Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996314" "0" "50" "7" "151856127" "151856127" "subst" "0" "01804" "MLL3_000292" "g.151856127A>T" "" "" "" "KMT2C(NM_170606.2):c.11491T>A (p.(Phe3831Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996315" "0" "30" "7" "151859521" "151859521" "subst" "2.43639E-5" "01804" "MLL3_000293" "g.151859521T>C" "" "" "" "KMT2C(NM_170606.2):c.11141A>G (p.(Lys3714Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996316" "0" "30" "7" "151859777" "151859777" "subst" "2.44224E-5" "01804" "MLL3_000294" "g.151859777T>C" "" "" "" "KMT2C(NM_170606.2):c.10885A>G (p.(Ile3629Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996317" "0" "70" "7" "151859850" "151859854" "dup" "0" "01804" "MLL3_000295" "g.151859850_151859854dup" "" "" "" "KMT2C(NM_170606.2):c.10815_10819dupAAGAA (p.(Thr3607fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996318" "0" "30" "7" "151859885" "151859885" "subst" "4.07518E-5" "01804" "MLL3_000296" "g.151859885A>G" "" "" "" "KMT2C(NM_170606.2):c.10777T>C (p.(Tyr3593His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996319" "0" "30" "7" "151860356" "151860356" "subst" "1.62425E-5" "01804" "MLL3_000297" "g.151860356T>C" "" "" "" "KMT2C(NM_170606.2):c.10306A>G (p.(Met3436Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996320" "0" "30" "7" "151860361" "151860361" "subst" "2.03034E-5" "01804" "MLL3_000298" "g.151860361T>C" "" "" "" "KMT2C(NM_170606.2):c.10301A>G (p.(His3434Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996321" "0" "50" "7" "151860431" "151860431" "subst" "0" "01804" "MLL3_000299" "g.151860431G>T" "" "" "" "KMT2C(NM_170606.2):c.10231C>A (p.(Gln3411Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996322" "0" "30" "7" "151860675" "151860675" "subst" "3.77333E-5" "01804" "MLL3_000300" "g.151860675C>T" "" "" "" "KMT2C(NM_170606.2):c.9987G>A (p.(Met3329Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996323" "0" "30" "7" "151860806" "151860806" "subst" "2.43694E-5" "01804" "MLL3_000301" "g.151860806G>A" "" "" "" "KMT2C(NM_170606.2):c.9856C>T (p.(Pro3286Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996324" "0" "30" "7" "151864452" "151864452" "subst" "2.45385E-5" "02325" "MLL3_000302" "g.151864452G>A" "" "" "" "KMT2C(NM_170606.3):c.9529C>T (p.R3177C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996325" "0" "30" "7" "151868354" "151868354" "subst" "3.36981E-5" "01804" "MLL3_000303" "g.151868354G>A" "" "" "" "KMT2C(NM_170606.2):c.9448C>T (p.(Pro3150Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996326" "0" "30" "7" "151873302" "151873302" "subst" "8.22517E-6" "01804" "MLL3_000304" "g.151873302C>T" "" "" "" "KMT2C(NM_170606.2):c.9236G>A (p.(Arg3079Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996327" "0" "50" "7" "151874452" "151874452" "subst" "0" "01804" "MLL3_000305" "g.151874452C>T" "" "" "" "KMT2C(NM_170606.2):c.8086G>A (p.(Val2696Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996328" "0" "30" "7" "151874608" "151874608" "subst" "3.65622E-5" "01804" "MLL3_000028" "g.151874608T>C" "" "" "" "KMT2C(NM_170606.2):c.7930A>G (p.M2644V, p.(Met2644Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996329" "0" "30" "7" "151875100" "151875100" "dup" "0" "01804" "MLL3_000198" "g.151875100dup" "" "" "" "KMT2C(NM_170606.2):c.7443-2dupA (p.?), KMT2C(NM_170606.3):c.7443-2dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996330" "0" "30" "7" "151876989" "151876989" "subst" "5.68837E-5" "01804" "MLL3_000306" "g.151876989A>G" "" "" "" "KMT2C(NM_170606.2):c.7372T>C (p.(Phe2458Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996331" "0" "30" "7" "151877887" "151877887" "subst" "2.03221E-5" "01804" "MLL3_000307" "g.151877887G>A" "" "" "" "KMT2C(NM_170606.2):c.7058C>T (p.(Ser2353Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996332" "0" "30" "7" "151878029" "151878029" "subst" "1.6258E-5" "01804" "MLL3_000119" "g.151878029G>A" "" "" "" "KMT2C(NM_170606.2):c.6916C>T (p.(Pro2306Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996333" "0" "50" "7" "151878202" "151878202" "subst" "0" "01804" "MLL3_000308" "g.151878202T>A" "" "" "" "KMT2C(NM_170606.2):c.6743A>T (p.(Asp2248Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996334" "0" "50" "7" "151878265" "151878265" "subst" "0" "01804" "MLL3_000309" "g.151878265G>T" "" "" "" "KMT2C(NM_170606.2):c.6680C>A (p.(Pro2227Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996335" "0" "30" "7" "151878271" "151878271" "subst" "8.12414E-6" "01804" "MLL3_000310" "g.151878271G>A" "" "" "" "KMT2C(NM_170606.2):c.6674C>T (p.(Pro2225Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996336" "0" "50" "7" "151878355" "151878355" "subst" "4.06114E-6" "02325" "MLL3_000311" "g.151878355T>C" "" "" "" "KMT2C(NM_170606.3):c.6590A>G (p.Q2197R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996337" "0" "30" "7" "151879136" "151879136" "subst" "0" "01804" "MLL3_000312" "g.151879136G>C" "" "" "" "KMT2C(NM_170606.2):c.5809C>G (p.(Gln1937Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996338" "0" "30" "7" "151879210" "151879210" "subst" "4.06296E-6" "01804" "MLL3_000313" "g.151879210T>C" "" "" "" "KMT2C(NM_170606.2):c.5735A>G (p.(His1912Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996339" "0" "50" "7" "151879408" "151879408" "subst" "0" "02327" "MLL3_000314" "g.151879408A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996340" "0" "30" "7" "151879468" "151879468" "subst" "0" "01804" "MLL3_000315" "g.151879468T>C" "" "" "" "KMT2C(NM_170606.2):c.5477A>G (p.(His1826Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996341" "0" "50" "7" "151880064" "151880064" "subst" "0" "02327" "MLL3_000316" "g.151880064T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996342" "0" "30" "7" "151884828" "151884828" "subst" "0" "01804" "MLL3_000317" "g.151884828T>C" "" "" "" "KMT2C(NM_170606.2):c.4765A>G (p.(Ile1589Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996343" "0" "50" "7" "151891091" "151891091" "subst" "0" "01804" "MLL3_000318" "g.151891091T>C" "" "" "" "KMT2C(NM_170606.2):c.4660+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996344" "0" "30" "7" "151891178" "151891178" "subst" "0" "01804" "MLL3_000319" "g.151891178C>A" "" "" "" "KMT2C(NM_170606.2):c.4576G>T (p.(Ala1526Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996345" "0" "50" "7" "151902206" "151902206" "subst" "0" "01804" "MLL3_000320" "g.151902206G>T" "" "" "" "KMT2C(NM_170606.2):c.3946C>A (p.(Pro1316Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996346" "0" "50" "7" "151904408" "151904408" "subst" "0" "01804" "MLL3_000321" "g.151904408C>A" "" "" "" "KMT2C(NM_170606.2):c.3818G>T (p.(Arg1273Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996347" "0" "50" "7" "151904501" "151904501" "subst" "4.52583E-6" "01804" "MLL3_000322" "g.151904501A>G" "" "" "" "KMT2C(NM_170606.2):c.3725T>C (p.(Met1242Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996348" "0" "30" "7" "151917817" "151917817" "subst" "4.08433E-6" "01804" "MLL3_000323" "g.151917817G>A" "" "" "" "KMT2C(NM_170606.2):c.3503C>T (p.(Pro1168Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996349" "0" "30" "7" "151921524" "151921524" "subst" "0" "01804" "MLL3_000324" "g.151921524T>G" "" "" "" "KMT2C(NM_170606.2):c.3154A>C (p.(Lys1052Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996350" "0" "50" "7" "151927109" "151927109" "subst" "0" "01804" "MLL3_000325" "g.151927109T>A" "" "" "" "KMT2C(NM_170606.2):c.2875A>T (p.(Met959Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996351" "0" "30" "7" "151945502" "151945502" "subst" "2.43998E-5" "01804" "MLL3_000326" "g.151945502G>T" "" "" "" "KMT2C(NM_170606.2):c.2017C>A (p.(Pro673Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996352" "0" "30" "7" "151945553" "151945553" "subst" "8.13405E-6" "01804" "MLL3_000327" "g.151945553C>T" "" "" "" "KMT2C(NM_170606.2):c.1966G>A (p.(Val656Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996353" "0" "30" "7" "151945594" "151945594" "subst" "1.62885E-5" "01804" "MLL3_000328" "g.151945594T>C" "" "" "" "KMT2C(NM_170606.2):c.1925A>G (p.(Gln642Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996354" "0" "30" "7" "151949048" "151949048" "subst" "4.10819E-6" "01804" "MLL3_000329" "g.151949048C>T" "" "" "" "KMT2C(NM_170606.2):c.1597G>A (p.(Val533Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996355" "0" "50" "7" "151949068" "151949068" "subst" "4.07983E-6" "01804" "MLL3_000330" "g.151949068C>T" "" "" "" "KMT2C(NM_170606.2):c.1577G>A (p.(Arg526His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996356" "0" "30" "7" "151949671" "151949671" "subst" "0" "01804" "MLL3_000331" "g.151949671C>G" "" "" "" "KMT2C(NM_170606.2):c.1429G>C (p.(Glu477Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996357" "0" "30" "7" "151949698" "151949698" "subst" "4.47737E-5" "01804" "MLL3_000332" "g.151949698G>C" "" "" "" "KMT2C(NM_170606.2):c.1402C>G (p.(Pro468Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996359" "0" "30" "7" "152008900" "152008900" "subst" "2.03565E-5" "01804" "MLL3_000090" "g.152008900G>C" "" "" "" "KMT2C(NM_170606.2):c.722C>G (p.A241G, p.(Ala241Gly)), KMT2C(NM_170606.3):c.722C>G (p.A241G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996360" "0" "30" "7" "152008913" "152008913" "subst" "4.06663E-5" "01804" "MLL3_000333" "g.152008913T>C" "" "" "" "KMT2C(NM_170606.2):c.709A>G (p.(Ile237Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996361" "0" "30" "7" "152012251" "152012251" "subst" "0" "01804" "MLL3_000334" "g.152012251C>T" "" "" "" "KMT2C(NM_170606.2):c.562G>A (p.(Ala188Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996362" "0" "30" "7" "152027756" "152027756" "subst" "1.21833E-5" "01804" "MLL3_000335" "g.152027756T>G" "" "" "" "KMT2C(NM_170606.2):c.319A>C (p.(Thr107Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007123" "0" "70" "7" "151945672" "151945672" "dup" "0" "03779" "MLL3_000336" "g.151945672dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001011148" "21" "70" "7" "151877996" "151877996" "subst" "0" "00006" "MLL3_000337" "g.151877996G>C" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "Germline" "" "" "0" "" "" "g.152180911G>C" "" "VUS" "" "0001014326" "0" "70" "7" "151845834" "151845834" "del" "0" "02329" "MLL3_000338" "g.151845834del" "" "" "" "KMT2C(NM_170606.3):c.13178delA (p.D4393Vfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014327" "0" "50" "7" "151859819" "151859819" "subst" "0" "02325" "MLL3_000339" "g.151859819C>T" "" "" "" "KMT2C(NM_170606.3):c.10843G>A (p.D3615N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014328" "0" "50" "7" "151879030" "151879030" "subst" "1.21857E-5" "02325" "MLL3_000340" "g.151879030G>T" "" "" "" "KMT2C(NM_170606.3):c.5915C>A (p.P1972H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014329" "0" "30" "7" "151944981" "151944981" "subst" "0" "02325" "MLL3_000051" "g.151944981C>T" "" "" "" "KMT2C(NM_170606.2):c.2532+6G>A, KMT2C(NM_170606.3):c.2532+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017719" "21" "70" "7" "151892991" "151892991" "subst" "0" "00006" "MLL3_000341" "g.151892991C>T" "" "{PMID:Peng 2017:29040572}" "" "" "" "Germline" "" "" "0" "" "" "g.152195906C>T" "" "VUS" "" "0001019123" "0" "50" "7" "151845561" "151845561" "subst" "0" "01164" "MLL3_000342" "g.151845561T>A" "" "" "" "" "ACMG: PP3_STR, PM2_SUP" "Germline" "?" "" "" "" "" "g.152148476T>A" "" "VUS" "ACMG" "0001022203" "0" "70" "7" "152007162" "152007162" "subst" "0" "04796" "MLL3_000343" "g.152007162T>G" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.152310077T>G" "" "likely pathogenic" "" "0001036211" "0" "30" "7" "151834220" "151834220" "subst" "0" "01804" "MLL3_000344" "g.151834220C>G" "" "" "" "KMT2C(NM_170606.3):c.14644-211G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036212" "0" "30" "7" "151836261" "151836261" "subst" "0" "01804" "MLL3_000345" "g.151836261G>C" "" "" "" "KMT2C(NM_170606.3):c.14534+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036213" "0" "30" "7" "151848538" "151848538" "subst" "0.00287146" "01804" "MLL3_000130" "g.151848538G>C" "" "" "" "KMT2C(NM_170606.2):c.12655C>G (p.L4219V), KMT2C(NM_170606.3):c.12655C>G (p.(Leu4219Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036214" "0" "30" "7" "151848636" "151848636" "subst" "0.000186981" "01804" "MLL3_000346" "g.151848636C>T" "" "" "" "KMT2C(NM_170606.3):c.12557G>A (p.(Gly4186Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036215" "0" "30" "7" "151859509" "151859509" "subst" "5.27876E-5" "01804" "MLL3_000347" "g.151859509A>C" "" "" "" "KMT2C(NM_170606.3):c.11153T>G (p.(Ile3718Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036216" "0" "30" "7" "151859939" "151859939" "subst" "0.00028444" "01804" "MLL3_000133" "g.151859939T>C" "" "" "" "KMT2C(NM_170606.2):c.10723A>G (p.T3575A), KMT2C(NM_170606.3):c.10723A>G (p.(Thr3575Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036217" "0" "50" "7" "151860500" "151860500" "subst" "0" "01804" "MLL3_000348" "g.151860500T>C" "" "" "" "KMT2C(NM_170606.3):c.10162A>G (p.(Asn3388Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036218" "0" "50" "7" "151864301" "151864301" "subst" "0" "01804" "MLL3_000099" "g.151864301G>A" "" "" "" "KMT2C(NM_170606.2):c.9680C>T (p.P3227L), KMT2C(NM_170606.3):c.9680C>T (p.(Pro3227Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036219" "0" "30" "7" "151875048" "151875048" "subst" "1.72946E-5" "01804" "MLL3_000349" "g.151875048C>T" "" "" "" "KMT2C(NM_170606.3):c.7490G>A (p.(Arg2497His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036220" "0" "30" "7" "151875096" "151875096" "subst" "0" "01804" "MLL3_000350" "g.151875096C>A" "" "" "" "KMT2C(NM_170606.3):c.7443-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036221" "0" "30" "7" "151875115" "151875127" "del" "0" "01804" "MLL3_000351" "g.151875115_151875127del" "" "" "" "KMT2C(NM_170606.3):c.7443-18_7443-6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036222" "0" "30" "7" "151875126" "151875127" "del" "0" "01804" "MLL3_000137" "g.151875126_151875127del" "" "" "" "KMT2C(NM_170606.2):c.7443-7_7443-6delTT, KMT2C(NM_170606.3):c.7443-7_7443-6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036223" "0" "30" "7" "151877986" "151877986" "subst" "0" "01804" "MLL3_000352" "g.151877986T>C" "" "" "" "KMT2C(NM_170606.3):c.6959A>G (p.(His2320Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036224" "0" "30" "7" "151878907" "151878907" "subst" "2.43748E-5" "01804" "MLL3_000166" "g.151878907C>T" "" "" "" "KMT2C(NM_170606.3):c.6038G>A (p.(Arg2013Lys), p.R2013K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036225" "0" "30" "7" "151884816" "151884816" "subst" "0" "01804" "MLL3_000353" "g.151884816A>G" "" "" "" "KMT2C(NM_170606.3):c.4777T>C (p.(Ser1593Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036226" "0" "30" "7" "151884864" "151884864" "subst" "2.43877E-5" "01804" "MLL3_000354" "g.151884864A>C" "" "" "" "KMT2C(NM_170606.3):c.4729T>G (p.(Leu1577Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036227" "0" "30" "7" "151893398" "151893398" "subst" "0" "01804" "MLL3_000355" "g.151893398A>C" "" "" "" "KMT2C(NM_170606.3):c.4274-302T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036228" "0" "30" "7" "151896420" "151896420" "subst" "4.23062E-5" "01804" "MLL3_000356" "g.151896420G>A" "" "" "" "KMT2C(NM_170606.3):c.4217C>T (p.(Pro1406Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036229" "0" "30" "7" "151916351" "151916351" "subst" "0" "01804" "MLL3_000357" "g.151916351G>A" "" "" "" "KMT2C(NM_170606.3):c.3712+1257C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036230" "0" "30" "7" "151932965" "151932965" "subst" "0" "01804" "MLL3_000047" "g.151932965C>T" "" "" "" "KMT2C(NM_170606.3):c.2706G>A (p.(Ser902=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036231" "0" "30" "7" "151933303" "151933303" "subst" "0" "01804" "MLL3_000358" "g.151933303G>A" "" "" "" "KMT2C(NM_170606.3):c.2653-285C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036232" "0" "30" "7" "151933333" "151933333" "subst" "0" "01804" "MLL3_000359" "g.151933333A>G" "" "" "" "KMT2C(NM_170606.3):c.2653-315T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036233" "0" "30" "7" "151934445" "151934445" "subst" "0" "01804" "MLL3_000360" "g.151934445C>T" "" "" "" "KMT2C(NM_170606.3):c.2652+1347G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036234" "0" "30" "7" "151935172" "151935172" "subst" "0" "01804" "MLL3_000361" "g.151935172G>C" "" "" "" "KMT2C(NM_170606.3):c.2652+620C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036235" "0" "30" "7" "151935352" "151935352" "subst" "0" "01804" "MLL3_000362" "g.151935352C>A" "" "" "" "KMT2C(NM_170606.3):c.2652+440G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036236" "0" "30" "7" "151935910" "151935910" "subst" "0" "01804" "MLL3_000363" "g.151935910C>T" "" "" "" "KMT2C(NM_170606.3):c.2534G>A (p.(Gly845Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036237" "0" "30" "7" "151938434" "151938434" "subst" "0" "01804" "MLL3_000364" "g.151938434C>T" "" "" "" "KMT2C(NM_170606.3):c.2533-2523G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036238" "0" "30" "7" "151938447" "151938447" "subst" "0" "01804" "MLL3_000365" "g.151938447A>G" "" "" "" "KMT2C(NM_170606.3):c.2533-2536T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036239" "0" "30" "7" "151944706" "151944706" "subst" "0" "01804" "MLL3_000366" "g.151944706A>T" "" "" "" "KMT2C(NM_170606.3):c.2532+281T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036240" "0" "30" "7" "151944760" "151944760" "subst" "0" "01804" "MLL3_000367" "g.151944760G>A" "" "" "" "KMT2C(NM_170606.3):c.2532+227C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036241" "0" "30" "7" "151944797" "151944797" "subst" "0" "01804" "MLL3_000368" "g.151944797A>G" "" "" "" "KMT2C(NM_170606.3):c.2532+190T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036242" "0" "30" "7" "151944800" "151944800" "subst" "0" "01804" "MLL3_000369" "g.151944800T>G" "" "" "" "KMT2C(NM_170606.3):c.2532+187A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036243" "0" "30" "7" "151945072" "151945072" "dup" "0" "01804" "MLL3_000052" "g.151945072dup" "" "" "" "KMT2C(NM_170606.2):c.2447dupA (p.Y816*), KMT2C(NM_170606.3):c.2447dup (p.(Tyr816Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036244" "0" "30" "7" "151945141" "151945141" "subst" "1.62444E-5" "01804" "MLL3_000370" "g.151945141G>A" "" "" "" "KMT2C(NM_170606.3):c.2378C>T (p.(Ser793Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036245" "0" "30" "7" "151945195" "151945195" "subst" "0" "01804" "MLL3_000371" "g.151945195T>C" "" "" "" "KMT2C(NM_170606.3):c.2324A>G (p.(Asp775Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036246" "0" "30" "7" "151945687" "151945687" "subst" "0" "01804" "MLL3_000372" "g.151945687A>G" "" "" "" "KMT2C(NM_170606.3):c.1832T>C (p.(Val611Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036247" "0" "30" "7" "151949640" "151949640" "subst" "4.0839E-6" "01804" "MLL3_000373" "g.151949640A>G" "" "" "" "KMT2C(NM_170606.3):c.1460T>C (p.(Met487Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036248" "0" "50" "7" "151960134" "151960134" "subst" "0" "01804" "MLL3_000374" "g.151960134C>T" "" "" "" "KMT2C(NM_170606.3):c.1266G>A (p.(Met422Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036249" "0" "30" "7" "151960402" "151960402" "subst" "0" "01804" "MLL3_000375" "g.151960402C>T" "" "" "" "KMT2C(NM_170606.3):c.1185-187G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036250" "0" "30" "7" "151962055" "151962055" "subst" "0" "01804" "MLL3_000376" "g.151962055C>T" "" "" "" "KMT2C(NM_170606.3):c.1184+68G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036251" "0" "30" "7" "151970695" "151970695" "subst" "0" "01804" "MLL3_000377" "g.151970695A>T" "" "" "" "KMT2C(NM_170606.3):c.1012+95T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036252" "0" "30" "7" "152007449" "152007449" "subst" "0" "01804" "MLL3_000378" "g.152007449C>T" "" "" "" "KMT2C(NM_170606.3):c.740-289G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036253" "0" "30" "7" "152055779" "152055779" "del" "0" "01804" "MLL3_000379" "g.152055779del" "" "" "" "KMT2C(NM_170606.3):c.162-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036254" "0" "30" "7" "152055989" "152055989" "subst" "0" "01804" "MLL3_000380" "g.152055989A>G" "" "" "" "KMT2C(NM_170606.3):c.162-229T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036255" "0" "30" "7" "152081646" "152081646" "subst" "0" "01804" "MLL3_000381" "g.152081646C>T" "" "" "" "KMT2C(NM_170606.3):c.162-25886G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036256" "0" "30" "7" "152084656" "152084656" "subst" "0" "01804" "MLL3_000382" "g.152084656C>T" "" "" "" "KMT2C(NM_170606.3):c.162-28896G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036257" "0" "30" "7" "152098857" "152098857" "subst" "0" "01804" "MLL3_000383" "g.152098857C>T" "" "" "" "KMT2C(NM_170606.3):c.161+33854G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036258" "0" "30" "7" "152099149" "152099149" "subst" "0" "01804" "MLL3_000384" "g.152099149C>T" "" "" "" "KMT2C(NM_170606.3):c.161+33562G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036259" "0" "30" "7" "152099152" "152099152" "subst" "0" "01804" "MLL3_000385" "g.152099152G>A" "" "" "" "KMT2C(NM_170606.3):c.161+33559C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036260" "0" "30" "7" "152099203" "152099203" "del" "0" "01804" "MLL3_000386" "g.152099203del" "" "" "" "KMT2C(NM_170606.3):c.161+33508del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036261" "0" "30" "7" "152099244" "152099244" "subst" "0" "01804" "MLL3_000387" "g.152099244A>G" "" "" "" "KMT2C(NM_170606.3):c.161+33467T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036262" "0" "30" "7" "152100743" "152100743" "subst" "0" "01804" "MLL3_000388" "g.152100743G>C" "" "" "" "KMT2C(NM_170606.3):c.161+31968C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036263" "0" "30" "7" "152103075" "152103076" "del" "0" "01804" "MLL3_000389" "g.152103075_152103076del" "" "" "" "KMT2C(NM_170606.3):c.161+29636_161+29637del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036264" "0" "30" "7" "152110637" "152110637" "subst" "0" "01804" "MLL3_000390" "g.152110637T>C" "" "" "" "KMT2C(NM_170606.3):c.161+22074A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036265" "0" "30" "7" "152111295" "152111295" "subst" "0" "01804" "MLL3_000391" "g.152111295A>T" "" "" "" "KMT2C(NM_170606.3):c.161+21416T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036266" "0" "30" "7" "152112789" "152112789" "subst" "0" "01804" "MLL3_000392" "g.152112789A>C" "" "" "" "KMT2C(NM_170606.3):c.161+19922T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036267" "0" "30" "7" "152113655" "152113655" "del" "0" "01804" "MLL3_000393" "g.152113655del" "" "" "" "KMT2C(NM_170606.3):c.161+19056del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036268" "0" "30" "7" "152113722" "152113722" "subst" "0" "01804" "MLL3_000394" "g.152113722C>T" "" "" "" "KMT2C(NM_170606.3):c.161+18989G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045537" "0" "70" "7" "151949665" "151949665" "subst" "0" "03779" "MLL3_000395" "g.151949665G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001047015" "0" "50" "7" "151917797" "151917797" "subst" "0" "03779" "MLL3_000396" "g.151917797C>A" "" "" "" "" "" "Unknown" "" "rs2129145748" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MLL3 ## Count = 480 "{{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}}" "0000254698" "00013684" "30" "2206" "0" "2206" "0" "c.2206T>C" "r.(?)" "p.(Leu736=)" "" "0000255173" "00013684" "30" "1422" "0" "1422" "0" "c.1422T>C" "r.(?)" "p.(Tyr474=)" "" "0000283501" "00013684" "70" "10318" "0" "10318" "0" "c.10318G>T" "r.(?)" "p.(Glu3440Ter)" "" "0000290428" "00013684" "30" "10899" "0" "10899" "0" "c.10899G>T" "r.(?)" "p.(Pro3633=)" "" "0000290429" "00013684" "10" "1131" "0" "1131" "0" "c.1131A>T" "r.(?)" "p.(Pro377=)" "" "0000290430" "00013684" "10" "1139" "0" "1139" "0" "c.1139G>T" "r.(?)" "p.(Arg380Leu)" "" "0000290431" "00013684" "50" "11614" "0" "11614" "0" "c.11614G>A" "r.(?)" "p.(Glu3872Lys)" "" "0000290432" "00013684" "10" "1173" "0" "1173" "0" "c.1173C>A" "r.(?)" "p.(Cys391Ter)" "" "0000290433" "00013684" "30" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Asn393=)" "" "0000290434" "00013684" "10" "14022" "0" "14022" "0" "c.14022A>T" "r.(?)" "p.(Ile4674=)" "" "0000290435" "00013684" "30" "14532" "0" "14532" "0" "c.14532A>G" "r.(?)" "p.(Ala4844=)" "" "0000290436" "00013684" "10" "2185" "0" "2185" "0" "c.2185A>G" "r.(?)" "p.(Asn729Asp)" "" "0000290437" "00013684" "10" "2352" "0" "2352" "0" "c.2352C>T" "r.(?)" "p.(Ser784=)" "" "0000290439" "00013684" "10" "2532" "6" "2532" "6" "c.2532+6G>T" "r.(=)" "p.(=)" "" "0000290440" "00013684" "50" "3955" "0" "3955" "0" "c.3955G>C" "r.(?)" "p.(Asp1319His)" "" "0000290441" "00013684" "30" "6189" "0" "6189" "0" "c.6189A>C" "r.(?)" "p.(Ala2063=)" "" "0000290442" "00013684" "50" "7504" "0" "7504" "0" "c.7504C>G" "r.(?)" "p.(Pro2502Ala)" "" "0000290443" "00013684" "30" "850" "-7" "850" "-7" "c.850-7C>T" "r.(=)" "p.(=)" "" "0000290444" "00013684" "50" "8939" "0" "8939" "0" "c.8939A>C" "r.(?)" "p.(Asn2980Thr)" "" "0000290445" "00013684" "50" "9050" "0" "9050" "0" "c.9050C>A" "r.(?)" "p.(Thr3017Lys)" "" "0000290446" "00013684" "10" "9150" "0" "9150" "0" "c.9150A>G" "r.(?)" "p.(Glu3050=)" "" "0000290447" "00013684" "10" "9245" "0" "9245" "0" "c.9245C>T" "r.(?)" "p.(Pro3082Leu)" "" "0000290448" "00013684" "30" "9564" "0" "9564" "0" "c.9564A>G" "r.(?)" "p.(Gln3188=)" "" "0000337249" "00013684" "10" "2653" "-15" "2653" "-15" "c.2653-15C>T" "r.(=)" "p.(=)" "" "0000339473" "00013684" "10" "8685" "0" "8685" "0" "c.8685G>A" "r.(?)" "p.(Gln2895=)" "" "0000339474" "00013684" "10" "7491" "0" "7491" "0" "c.7491C>T" "r.(?)" "p.(Arg2497=)" "" "0000339475" "00013684" "10" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Leu921=)" "" "0000339476" "00013684" "10" "2706" "0" "2706" "0" "c.2706G>A" "r.(?)" "p.(Ser902=)" "" "0000342811" "00013684" "70" "11983" "0" "11983" "0" "c.11983C>T" "r.(?)" "p.(Arg3995Ter)" "" "0000343060" "00013684" "10" "1577" "0" "1577" "0" "c.1577G>C" "r.(?)" "p.(Arg526Pro)" "" "0000343459" "00013684" "10" "2681" "0" "2681" "0" "c.2681G>A" "r.(?)" "p.(Arg894Gln)" "" "0000344762" "00013684" "50" "9565" "0" "9565" "0" "c.9565C>T" "r.(?)" "p.(Gln3189Ter)" "" "0000347052" "00013684" "10" "7957" "0" "7957" "0" "c.7957C>G" "r.(?)" "p.(Leu2653Val)" "" "0000347597" "00013684" "50" "1690" "0" "1690" "0" "c.1690A>T" "r.(?)" "p.(Lys564Ter)" "" "0000531410" "00013684" "50" "13817" "0" "13817" "0" "c.13817A>G" "r.(?)" "p.(Asp4606Gly)" "" "0000531411" "00013684" "70" "13678" "0" "13678" "0" "c.13678C>T" "r.(?)" "p.(Gln4560Ter)" "" "0000531412" "00013684" "50" "12878" "0" "12878" "0" "c.12878C>T" "r.(?)" "p.(Pro4293Leu)" "" "0000531413" "00013684" "50" "12871" "0" "12871" "0" "c.12871T>C" "r.(?)" "p.(Cys4291Arg)" "" "0000531414" "00013684" "50" "12118" "0" "12118" "0" "c.12118C>A" "r.(?)" "p.(Leu4040Ile)" "" "0000531415" "00013684" "30" "11139" "0" "11139" "0" "c.11139C>T" "r.(?)" "p.(Ala3713=)" "" "0000531416" "00013684" "90" "10588" "0" "10588" "0" "c.10588del" "r.(?)" "p.(Ser3530LeufsTer3)" "" "0000531417" "00013684" "30" "10513" "0" "10513" "0" "c.10513A>G" "r.(?)" "p.(Asn3505Asp)" "" "0000531418" "00013684" "50" "10381" "0" "10381" "0" "c.10381G>A" "r.(?)" "p.(Asp3461Asn)" "" "0000531419" "00013684" "30" "10163" "0" "10163" "0" "c.10163A>G" "r.(?)" "p.(Asn3388Ser)" "" "0000531420" "00013684" "50" "9866" "0" "9866" "0" "c.9866C>T" "r.(?)" "p.(Pro3289Leu)" "" "0000531421" "00013684" "50" "9455" "0" "9455" "0" "c.9455A>G" "r.(?)" "p.(Asp3152Gly)" "" "0000531422" "00013684" "90" "8390" "0" "8390" "0" "c.8390dup" "r.(?)" "p.(Glu2798GlyfsTer11)" "" "0000531423" "00013684" "30" "7930" "0" "7930" "0" "c.7930A>G" "r.(?)" "p.(Met2644Val)" "" "0000531427" "00013684" "70" "7207" "0" "7207" "0" "c.7207C>T" "r.(?)" "p.(Arg2403Ter)" "" "0000531428" "00013684" "30" "6836" "0" "6836" "0" "c.6836C>T" "r.(?)" "p.(Pro2279Leu)" "" "0000531430" "00013684" "50" "6275" "0" "6275" "0" "c.6275A>T" "r.(?)" "p.(Asp2092Val)" "" "0000531431" "00013684" "50" "5171" "0" "5171" "0" "c.5171G>T" "r.(?)" "p.(Ser1724Ile)" "" "0000531432" "00013684" "50" "4127" "0" "4127" "0" "c.4127G>A" "r.(?)" "p.(Ser1376Asn)" "" "0000531435" "00013684" "50" "3434" "-2" "3434" "-2" "c.3434-2A>T" "r.spl?" "p.?" "" "0000531436" "00013684" "30" "2968" "0" "2968" "0" "c.2968A>G" "r.(?)" "p.(Ser990Gly)" "" "0000531437" "00013684" "30" "2769" "5" "2769" "5" "c.2769+5G>T" "r.spl?" "p.?" "" "0000531438" "00013684" "30" "2532" "6" "2532" "6" "c.2532+6G>A" "r.(=)" "p.(=)" "" "0000531439" "00013684" "10" "2447" "0" "2447" "0" "c.2447dup" "r.(?)" "p.(Tyr816Ter)" "" "0000531440" "00013684" "10" "2315" "0" "2315" "0" "c.2315C>T" "r.(?)" "p.(Ser772Leu)" "" "0000531441" "00013684" "30" "2294" "0" "2294" "0" "c.2294A>G" "r.(?)" "p.(Glu765Gly)" "" "0000531443" "00013684" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Gln755Ter)" "" "0000531446" "00013684" "30" "1173" "0" "1173" "0" "c.1173C>A" "r.(?)" "p.(Cys391Ter)" "" "0000531447" "00013684" "30" "1139" "0" "1139" "0" "c.1139G>T" "r.(?)" "p.(Arg380Leu)" "" "0000531448" "00013684" "30" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Asp348Asn)" "" "0000531449" "00013684" "30" "1017" "0" "1017" "0" "c.1017G>C" "r.(?)" "p.(Lys339Asn)" "" "0000531450" "00013684" "30" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Ser338Leu)" "" "0000531451" "00013684" "50" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Ser338Leu)" "" "0000531452" "00013684" "30" "1013" "-2" "1013" "-2" "c.1013-2A>G" "r.spl?" "p.?" "" "0000531454" "00013684" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Gly315Ser)" "" "0000531455" "00013684" "30" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Arg284Gln)" "" "0000610965" "00013684" "30" "14657" "0" "14657" "0" "c.14657A>G" "r.(?)" "p.(Tyr4886Cys)" "" "0000610966" "00013684" "30" "10911" "0" "10911" "0" "c.10911C>T" "r.(?)" "p.(Ile3637=)" "" "0000610967" "00013684" "30" "9974" "0" "9974" "0" "c.9974G>T" "r.(?)" "p.(Ser3325Ile)" "" "0000610968" "00013684" "70" "8390" "0" "8390" "0" "c.8390dup" "r.(?)" "p.(Glu2798GlyfsTer11)" "" "0000610969" "00013684" "50" "7337" "0" "7337" "0" "c.7337C>T" "r.(?)" "p.(Pro2446Leu)" "" "0000610970" "00013684" "30" "6977" "0" "6977" "0" "c.6977C>A" "r.(?)" "p.(Pro2326Gln)" "" "0000610971" "00013684" "30" "4986" "0" "4986" "0" "c.4986C>G" "r.(?)" "p.(Pro1662=)" "" "0000610972" "00013684" "70" "3556" "0" "3556" "0" "c.3556C>T" "r.(?)" "p.(Gln1186Ter)" "" "0000610973" "00013684" "50" "2509" "0" "2509" "0" "c.2509C>T" "r.(?)" "p.(Pro837Ser)" "" "0000610974" "00013684" "30" "2291" "0" "2291" "0" "c.2291C>T" "r.(?)" "p.(Ser764Phe)" "" "0000610975" "00013684" "30" "1344" "0" "1344" "0" "c.1344G>T" "r.(?)" "p.(Gln448His)" "" "0000610976" "00013684" "30" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Pro309Ser)" "" "0000610978" "00013684" "50" "722" "0" "722" "0" "c.722C>G" "r.(?)" "p.(Ala241Gly)" "" "0000610979" "00013684" "70" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195Ter)" "" "0000621861" "00013684" "30" "14344" "-10" "14344" "-10" "c.14344-10T>C" "r.(=)" "p.(=)" "" "0000621862" "00013684" "30" "8832" "0" "8832" "0" "c.8832G>A" "r.(?)" "p.(Pro2944=)" "" "0000655791" "00013684" "50" "14023" "0" "14023" "0" "c.14023G>A" "r.(?)" "p.(Ala4675Thr)" "" "0000655792" "00013684" "50" "12539" "0" "12539" "0" "c.12539A>G" "r.(?)" "p.(Tyr4180Cys)" "" "0000655793" "00013684" "30" "9750" "10" "9750" "10" "c.9750+10A>G" "r.(=)" "p.(=)" "" "0000655794" "00013684" "30" "7846" "0" "7846" "0" "c.7846C>T" "r.(?)" "p.(Pro2616Ser)" "" "0000655795" "00013684" "50" "5349" "0" "5351" "0" "c.5349_5351dup" "r.(?)" "p.(Gln1787dup)" "" "0000655796" "00013684" "30" "2769" "9" "2769" "9" "c.2769+9T>G" "r.(=)" "p.(=)" "" "0000655797" "00013684" "50" "1013" "-2" "1013" "-2" "c.1013-2A>G" "r.spl?" "p.?" "" "0000678042" "00013684" "70" "11566" "0" "11567" "0" "c.11566_11567del" "r.(?)" "p.(Arg3856AspfsTer3)" "" "0000678043" "00013684" "50" "9680" "0" "9680" "0" "c.9680C>T" "r.(?)" "p.(Pro3227Leu)" "" "0000678044" "00013684" "30" "8939" "0" "8939" "0" "c.8939A>C" "r.(?)" "p.(Asn2980Thr)" "" "0000678045" "00013684" "50" "7250" "0" "7261" "0" "c.7250_7261del" "r.(?)" "p.(Pro2417_Leu2420del)" "" "0000678046" "00013684" "50" "7042" "0" "7042" "0" "c.7042C>T" "r.(?)" "p.(Gln2348Ter)" "" "0000678047" "00013684" "30" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Pro1169Leu)" "" "0000678050" "00013684" "50" "787" "0" "787" "0" "c.787T>G" "r.(?)" "p.(Cys263Gly)" "" "0000689958" "00013684" "30" "11571" "0" "11571" "0" "c.11571G>C" "r.(?)" "p.(Thr3857=)" "" "0000694194" "00013684" "90" "4744" "0" "4744" "0" "c.4744G>T" "r.(?)" "p.(Gly1582*)" "" "0000694195" "00013684" "90" "8849" "0" "8850" "0" "c.8849_8850del" "r.(?)" "p.(His2950Argfs*17)" "" "0000694196" "00013684" "90" "14526" "0" "14526" "0" "c.14526dup" "r.(?)" "p.(Pro4843Alafs*12)" "" "0000694874" "00013684" "50" "12685" "0" "12685" "0" "c.12685A>G" "r.(?)" "p.(Lys4229Glu)" "" "0000694875" "00013684" "50" "12151" "0" "12151" "0" "c.12151A>G" "r.(?)" "p.(Arg4051Gly)" "" "0000694876" "00013684" "50" "12098" "0" "12098" "0" "c.12098C>T" "r.(?)" "p.(Pro4033Leu)" "" "0000694877" "00013684" "30" "11670" "990" "11670" "990" "c.11670+990A>G" "r.spl?" "p.?" "" "0000694878" "00013684" "30" "11670" "990" "11670" "990" "c.11670+990A>G" "r.spl?" "p.?" "" "0000694879" "00013684" "50" "10049" "0" "10049" "0" "c.10049G>A" "r.(?)" "p.(Arg3350Lys)" "" "0000694880" "00013684" "30" "9974" "0" "9974" "0" "c.9974G>T" "r.(?)" "p.(Ser3325Ile)" "" "0000694881" "00013684" "90" "8849" "0" "8850" "0" "c.8849_8850del" "r.(?)" "p.(His2950Argfs*17)" "" "0000694882" "00013684" "50" "7469" "0" "7469" "0" "c.7469G>A" "r.(?)" "p.(Gly2490Asp)" "" "0000694883" "00013684" "50" "7468" "0" "7468" "0" "c.7468G>A" "r.(?)" "p.(Gly2490Ser)" "" "0000694884" "00013684" "50" "6916" "0" "6916" "0" "c.6916C>T" "r.(?)" "p.(Pro2306Ser)" "" "0000694885" "00013684" "50" "6908" "0" "6908" "0" "c.6908C>T" "r.(?)" "p.(Pro2303Leu)" "" "0000694886" "00013684" "90" "4744" "0" "4744" "0" "c.4744G>T" "r.(?)" "p.(Gly1582*)" "" "0000694887" "00013684" "50" "1344" "0" "1344" "0" "c.1344G>T" "r.(?)" "p.(Gln448His)" "" "0000694954" "00013684" "90" "" "0" "" "0" "c.(?_251-4891)_*1905{0}" "r.0?" "p.0?" "" "0000694955" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694956" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694957" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694958" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694959" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694960" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694961" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694962" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694963" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694964" "00013684" "90" "" "0" "" "0" "c.-217_(161+10895_?){0}" "r.0?" "p.0?" "" "0000694965" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694966" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694967" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694968" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694969" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694970" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694971" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694972" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694973" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694974" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694975" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694976" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694977" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694978" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694979" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694980" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694981" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694982" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694983" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694984" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694985" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694986" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694987" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694988" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694989" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694990" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694991" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694992" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694993" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000694994" "00013684" "90" "" "0" "" "0" "c.-217_*1905{0}" "r.0" "p.0" "" "0000721367" "00013684" "30" "14408" "0" "14408" "0" "c.14408C>G" "r.(?)" "p.(Thr4803Ser)" "" "0000721368" "00013684" "30" "14073" "0" "14073" "0" "c.14073C>T" "r.(?)" "p.(Tyr4691=)" "" "0000721369" "00013684" "30" "7443" "-6" "7443" "-6" "c.7443-6del" "r.(=)" "p.(=)" "" "0000721370" "00013684" "50" "6485" "0" "6485" "0" "c.6485C>T" "r.(?)" "p.(Pro2162Leu)" "" "0000721371" "00013684" "50" "6430" "0" "6438" "0" "c.6430_6438dup" "r.(?)" "p.(Ser2144_Ser2146dup)" "" "0000721372" "00013684" "50" "6110" "0" "6110" "0" "c.6110A>G" "r.(?)" "p.(Asp2037Gly)" "" "0000721373" "00013684" "30" "5550" "0" "5550" "0" "c.5550A>G" "r.(?)" "p.(Pro1850=)" "" "0000721374" "00013684" "50" "2961" "0" "2961" "0" "c.2961C>G" "r.(?)" "p.(Tyr987*)" "" "0000721375" "00013684" "50" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Arg886His)" "" "0000721376" "00013684" "50" "1012" "1" "1012" "1" "c.1012+1G>A" "r.spl?" "p.?" "" "0000803012" "00013684" "30" "12655" "0" "12655" "0" "c.12655C>G" "r.(?)" "p.(Leu4219Val)" "" "0000803013" "00013684" "30" "11177" "0" "11177" "0" "c.11177A>G" "r.(?)" "p.(Glu3726Gly)" "" "0000803014" "00013684" "30" "10763" "0" "10763" "0" "c.10763C>T" "r.(?)" "p.(Ser3588Leu)" "" "0000803015" "00013684" "30" "10723" "0" "10723" "0" "c.10723A>G" "r.(?)" "p.(Thr3575Ala)" "" "0000803016" "00013684" "30" "10040" "0" "10040" "0" "c.10040A>G" "r.(?)" "p.(Asn3347Ser)" "" "0000803017" "00013684" "30" "9138" "0" "9138" "0" "c.9138T>A" "r.(?)" "p.(Leu3046=)" "" "0000803018" "00013684" "50" "9080" "0" "9080" "0" "c.9080G>T" "r.(?)" "p.(Gly3027Val)" "" "0000803019" "00013684" "30" "7491" "0" "7491" "0" "c.7491C>T" "r.(?)" "p.(Arg2497=)" "" "0000803020" "00013684" "30" "7443" "-7" "7443" "-6" "c.7443-7_7443-6del" "r.(=)" "p.(=)" "" "0000803021" "00013684" "30" "7233" "0" "7233" "0" "c.7233A>G" "r.(?)" "p.(Ser2411=)" "" "0000803022" "00013684" "50" "6239" "0" "6239" "0" "c.6239G>C" "r.(?)" "p.(Arg2080Thr)" "" "0000803023" "00013684" "30" "5952" "0" "5952" "0" "c.5952A>C" "r.(?)" "p.(Leu1984=)" "" "0000803024" "00013684" "30" "5587" "0" "5587" "0" "c.5587C>G" "r.(?)" "p.(Pro1863Ala)" "" "0000803025" "00013684" "30" "5587" "0" "5587" "0" "c.5587C>G" "r.(?)" "p.(Pro1863Ala)" "" "0000803026" "00013684" "50" "4046" "0" "4046" "0" "c.4046G>A" "r.(?)" "p.(Arg1349Gln)" "" "0000803027" "00013684" "30" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(Asp1128=)" "" "0000803028" "00013684" "30" "2758" "0" "2758" "0" "c.2758G>A" "r.(?)" "p.(Val920Ile)" "" "0000803029" "00013684" "30" "1714" "0" "1714" "0" "c.1714A>G" "r.(?)" "p.(Thr572Ala)" "" "0000803030" "00013684" "50" "1300" "0" "1300" "0" "c.1300A>C" "r.(?)" "p.(Asn434His)" "" "0000823705" "00013684" "70" "5667" "0" "5667" "0" "c.5667dup" "r.(?)" "p.(Arg1890Thrfs*24)" "" "0000832506" "00013684" "70" "2829" "0" "2832" "0" "c.2829_2832dup" "r.(?)" "p.(Val945Serfs*6)" "" "0000851541" "00013684" "50" "14002" "0" "14002" "0" "c.14002G>A" "r.(?)" "p.(Val4668Ile)" "" "0000851542" "00013684" "50" "12454" "0" "12454" "0" "c.12454G>A" "r.(?)" "p.(Ala4152Thr)" "" "0000851543" "00013684" "30" "12433" "0" "12433" "0" "c.12433C>T" "r.(?)" "p.(Arg4145Cys)" "" "0000851544" "00013684" "30" "10207" "0" "10207" "0" "c.10207C>T" "r.(?)" "p.(Arg3403Cys)" "" "0000851545" "00013684" "50" "558" "0" "558" "0" "c.558C>G" "r.(?)" "p.(Asn186Lys)" "" "0000860699" "00013684" "50" "14465" "0" "14465" "0" "c.14465G>A" "r.(?)" "p.(Arg4822His)" "" "0000860700" "00013684" "30" "14250" "0" "14250" "0" "c.14250T>C" "r.(?)" "p.(Tyr4750=)" "" "0000860701" "00013684" "50" "14075" "0" "14075" "0" "c.14075G>C" "r.(?)" "p.(Gly4692Ala)" "" "0000860702" "00013684" "90" "11506" "0" "11506" "0" "c.11506C>T" "r.(?)" "p.(Gln3836*)" "" "0000860703" "00013684" "30" "8963" "0" "8963" "0" "c.8963A>T" "r.(?)" "p.(Gln2988Leu)" "" "0000860704" "00013684" "30" "7829" "0" "7829" "0" "c.7829G>A" "r.(?)" "p.(Arg2610Gln)" "" "0000860705" "00013684" "30" "6751" "0" "6751" "0" "c.6751C>T" "r.(?)" "p.(Leu2251=)" "" "0000860706" "00013684" "30" "5171" "0" "5171" "0" "c.5171G>T" "r.(?)" "p.(Ser1724Ile)" "" "0000887759" "00013684" "10" "13246" "0" "13246" "0" "c.13246C>T" "r.(?)" "p.(Pro4416Ser)" "" "0000887760" "00013684" "30" "11506" "0" "11506" "0" "c.11506C>A" "r.(?)" "p.(Gln3836Lys)" "" "0000887761" "00013684" "50" "9725" "0" "9725" "0" "c.9725G>A" "r.(?)" "p.(Ser3242Asn)" "" "0000887762" "00013684" "90" "6382" "0" "6382" "0" "c.6382del" "r.(?)" "p.(Gln2128Argfs*15)" "" "0000887763" "00013684" "50" "6083" "0" "6083" "0" "c.6083G>A" "r.(?)" "p.(Arg2028Gln)" "" "0000887764" "00013684" "30" "6038" "0" "6038" "0" "c.6038G>A" "r.(?)" "p.(Arg2013Lys)" "" "0000887765" "00013684" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Cys1078Tyr)" "" "0000887766" "00013684" "30" "2872" "-3" "2872" "-3" "c.2872-3C>T" "r.spl?" "p.?" "" "0000887767" "00013684" "30" "1402" "0" "1402" "0" "c.1402C>A" "r.(?)" "p.(Pro468Thr)" "" "0000887768" "00013684" "50" "1300" "0" "1300" "0" "c.1300A>C" "r.(?)" "p.(Asn434His)" "" "0000887769" "00013684" "50" "1286" "0" "1286" "0" "c.1286G>T" "r.(?)" "p.(Gly429Val)" "" "0000887770" "00013684" "30" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Asp348Asn)" "" "0000887771" "00013684" "30" "1017" "0" "1017" "0" "c.1017G>C" "r.(?)" "p.(Lys339Asn)" "" "0000912697" "00013684" "70" "11271" "0" "11271" "0" "c.11271del" "r.(?)" "p.(Ser3758Valfs*20)" "" "0000912698" "00013684" "30" "6370" "0" "6370" "0" "c.6370A>G" "r.(?)" "p.(Arg2124Gly)" "" "0000912699" "00013684" "50" "4909" "0" "4909" "0" "c.4909C>G" "r.(?)" "p.(Leu1637Val)" "" "0000912700" "00013684" "30" "2662" "0" "2662" "0" "c.2662T>A" "r.(?)" "p.(Ser888Thr)" "" "0000924680" "00013684" "50" "5865" "0" "5867" "0" "c.5865_5867del" "r.(?)" "p.(Ser1956del)" "" "0000935927" "00013684" "70" "1017" "0" "1017" "0" "c.1017G>C" "r.(?)" "p.(Lys339Asn)" "" "0000935928" "00013684" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904*)" "" "0000936000" "00013684" "90" "2961" "0" "2961" "0" "c.2961C>G" "r.(?)" "p.(Tyr987*)" "" "0000943894" "00013684" "10" "2726" "0" "2726" "0" "c.2726G>A" "r.(?)" "p.(Arg909Lys)" "" "0000948891" "00013684" "50" "1238" "0" "1238" "0" "c.1238A>G" "r.(?)" "p.(Tyr413Cys)" "" "0000964513" "00013684" "70" "7207" "0" "7207" "0" "c.7207C>T" "r.(?)" "p.(Arg2403Ter)" "" "0000964514" "00013684" "10" "6339" "0" "6339" "0" "c.6339A>C" "r.(?)" "p.(=)" "" "0000964515" "00013684" "50" "4072" "0" "4072" "0" "c.4072A>G" "r.(?)" "p.(Thr1358Ala)" "" "0000964516" "00013684" "70" "3709" "0" "3709" "0" "c.3709C>T" "r.(?)" "p.(Arg1237*)" "" "0000964523" "00013684" "10" "162" "-5" "162" "-5" "c.162-5dup" "r.spl?" "p.?" "" "0000964525" "00013684" "50" "110" "0" "110" "0" "c.110G>C" "r.(?)" "p.(Arg37Pro)" "" "0000977579" "00013684" "30" "14032" "-3" "14032" "-3" "c.14032-3C>T" "r.spl?" "p.?" "" "0000977580" "00013684" "30" "12775" "-228" "12775" "-228" "c.12775-228C>T" "r.(=)" "p.(=)" "" "0000977581" "00013684" "30" "11549" "0" "11549" "0" "c.11549G>A" "r.(?)" "p.(Arg3850Gln)" "" "0000977582" "00013684" "30" "11029" "0" "11029" "0" "c.11029T>C" "r.(?)" "p.(Cys3677Arg)" "" "0000977583" "00013684" "30" "10957" "0" "10957" "0" "c.10957C>T" "r.(?)" "p.(Pro3653Ser)" "" "0000977584" "00013684" "30" "10330" "0" "10330" "0" "c.10330A>T" "r.(?)" "p.(Ser3444Cys)" "" "0000977585" "00013684" "30" "10207" "0" "10207" "0" "c.10207C>T" "r.(?)" "p.(Arg3403Cys)" "" "0000977586" "00013684" "30" "10024" "0" "10024" "0" "c.10024G>T" "r.(?)" "p.(Ala3342Ser)" "" "0000977587" "00013684" "30" "9570" "0" "9570" "0" "c.9570G>A" "r.(?)" "p.(=)" "" "0000977588" "00013684" "50" "8995" "0" "8995" "0" "c.8995A>G" "r.(?)" "p.(Thr2999Ala)" "" "0000977589" "00013684" "50" "8198" "0" "8198" "0" "c.8198A>T" "r.(?)" "p.(Asp2733Val)" "" "0000977590" "00013684" "30" "7443" "-2" "7443" "-2" "c.7443-2dup" "r.spl?" "p.?" "" "0000977591" "00013684" "70" "7126" "0" "7126" "0" "c.7126del" "r.(?)" "p.(Ala2376Glnfs*6)" "" "0000977592" "00013684" "30" "6958" "0" "6958" "0" "c.6958C>G" "r.(?)" "p.(His2320Asp)" "" "0000977593" "00013684" "30" "6836" "0" "6836" "0" "c.6836C>T" "r.(?)" "p.(Pro2279Leu)" "" "0000977594" "00013684" "50" "6430" "0" "6438" "0" "c.6430_6438dup" "r.(?)" "p.(Ser2144_Ser2146dup)" "" "0000977595" "00013684" "50" "6299" "0" "6299" "0" "c.6299C>T" "r.(?)" "p.(Thr2100Ile)" "" "0000977596" "00013684" "30" "5957" "0" "5957" "0" "c.5957G>A" "r.(?)" "p.(Arg1986Gln)" "" "0000977597" "00013684" "30" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Ser1931Leu)" "" "0000977598" "00013684" "30" "5171" "0" "5171" "0" "c.5171G>T" "r.(?)" "p.(Ser1724Ile)" "" "0000977599" "00013684" "30" "4570" "0" "4570" "0" "c.4570T>C" "r.(?)" "p.(Phe1524Leu)" "" "0000977600" "00013684" "50" "4228" "0" "4228" "0" "c.4228C>T" "r.(?)" "p.(Pro1410Ser)" "" "0000977601" "00013684" "30" "2959" "0" "2959" "0" "c.2959T>C" "r.(?)" "p.(Tyr987His)" "" "0000977602" "00013684" "30" "2662" "0" "2662" "0" "c.2662T>A" "r.(?)" "p.(Ser888Thr)" "" "0000977603" "00013684" "30" "2652" "680" "2652" "680" "c.2652+680del" "r.(=)" "p.(=)" "" "0000977604" "00013684" "30" "2652" "538" "2652" "538" "c.2652+538T>A" "r.(=)" "p.(=)" "" "0000977605" "00013684" "50" "2591" "0" "2591" "0" "c.2591A>G" "r.(?)" "p.(Glu864Gly)" "" "0000977606" "00013684" "30" "2533" "-1465" "2533" "-1465" "c.2533-1465A>G" "r.(=)" "p.(=)" "" "0000977607" "00013684" "30" "2533" "-1496" "2533" "-1496" "c.2533-1496C>G" "r.(=)" "p.(=)" "" "0000977608" "00013684" "30" "2532" "349" "2532" "349" "c.2532+349A>G" "r.(=)" "p.(=)" "" "0000977609" "00013684" "30" "2512" "0" "2512" "0" "c.2512G>A" "r.(?)" "p.(Gly838Ser)" "" "0000977610" "00013684" "30" "2291" "0" "2291" "0" "c.2291C>A" "r.(?)" "p.(Ser764Tyr)" "" "0000977611" "00013684" "30" "1363" "0" "1363" "0" "c.1363A>C" "r.(?)" "p.(Ile455Leu)" "" "0000977612" "00013684" "50" "1312" "0" "1312" "0" "c.1312T>C" "r.(?)" "p.(Cys438Arg)" "" "0000977613" "00013684" "50" "850" "-7721" "850" "-7721" "c.850-7721A>G" "r.(=)" "p.(=)" "" "0000977614" "00013684" "50" "850" "-8245" "850" "-8245" "c.850-8245A>G" "r.(=)" "p.(=)" "" "0000977615" "00013684" "30" "850" "-11884" "850" "-11884" "c.850-11884T>C" "r.(=)" "p.(=)" "" "0000977616" "00013684" "30" "850" "-11896" "850" "-11896" "c.850-11896G>A" "r.(=)" "p.(=)" "" "0000977617" "00013684" "50" "722" "0" "722" "0" "c.722C>G" "r.(?)" "p.(Ala241Gly)" "" "0000977618" "00013684" "30" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Ile205Val)" "" "0000977619" "00013684" "50" "162" "-22627" "162" "-22627" "c.162-22627G>C" "r.(=)" "p.(=)" "" "0000977620" "00013684" "30" "162" "-22686" "162" "-22686" "c.162-22686C>T" "r.(=)" "p.(=)" "" "0000977621" "00013684" "30" "162" "-22698" "162" "-22698" "c.162-22698G>A" "r.(=)" "p.(=)" "" "0000977622" "00013684" "30" "162" "-24034" "162" "-24034" "c.162-24034C>A" "r.(=)" "p.(=)" "" "0000977623" "00013684" "30" "162" "-24042" "162" "-24042" "c.162-24042T>C" "r.(=)" "p.(=)" "" "0000989509" "00013684" "90" "4441" "0" "4441" "0" "c.4441C>T" "r.(?)" "p.(Arg1481Ter)" "" "0000989515" "00013684" "90" "5216" "0" "5216" "0" "c.5216del" "r.(?)" "p.(Pro1739LeufsTer2)" "" "0000989516" "00013684" "90" "7550" "0" "7550" "0" "c.7550C>G" "r.(?)" "p.(Ser2517Ter)" "" "0000989517" "00013684" "90" "1690" "0" "1690" "0" "c.1690A>T" "r.(?)" "p.(Lys564Ter)" "" "0000989518" "00013684" "90" "10812" "0" "10815" "0" "c.10812_10815del" "r.(?)" "p.(Lys3605GlufsTer24)" "" "0000989519" "00013684" "90" "162" "-6403" "11460" "282" "c.(?_162-6403)_(11460+282_?)del" "r.?" "p.?" "1i_43i" "0000989554" "00013684" "70" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Ter)" "" "0000989555" "00013684" "90" "9915" "0" "9915" "0" "c.9915del" "r.(?)" "p.(Met3306TrpfsTer55)" "" "0000989556" "00013684" "90" "11983" "0" "11983" "0" "c.11983C>T" "r.(?)" "p.(Arg3995Ter)" "" "0000989557" "00013684" "90" "5481" "0" "5485" "0" "c.5481_5485del" "r.(?)" "p.(Lys1827AsnfsTer17)" "" "0000989558" "00013684" "90" "3393" "0" "3393" "0" "c.3393dup" "r.(?)" "p.(Asp1132Ter)" "" "0000989559" "00013684" "90" "9621" "0" "9622" "0" "c.9621_9622insA" "r.(?)" "p.(Ser3208IlefsTer2)" "" "0000989560" "00013684" "90" "9472" "0" "9472" "0" "c.9472C>T" "r.(?)" "p.(Gln3158Ter)" "" "0000989561" "00013684" "90" "8390" "0" "8390" "0" "c.8390dup" "r.(?)" "p.(Glu2798GlyfsTer11)" "" "0000989562" "00013684" "70" "251" "-3040" "9389" "0" "c.(?_251-3040)_(9389_?)del" "r.?" "p.?" "" "0000989563" "00013684" "90" "8390" "0" "8390" "0" "c.8390dup" "r.(?)" "p.(Glu2798GlyfsTer11)" "" "0000989564" "00013684" "90" "10588" "0" "10588" "0" "c.10588del" "r.(?)" "p.(Ser3530LeufsTer3)" "" "0000989565" "00013684" "70" "11566" "0" "11567" "0" "c.11566_11567del" "r.(?)" "p.(Arg3856AspfsTer3)" "" "0000989566" "00013684" "90" "8849" "0" "8850" "0" "c.8849_8850del" "r.(?)" "p.(His2950ArgfsTer17)" "" "0000989567" "00013684" "70" "8849" "0" "8850" "0" "c.8849_8850del" "r.(?)" "p.(His2950ArgfsTer17)" "" "0000989568" "00013684" "90" "1185" "-20" "1185" "-7" "c.1185-20_1185-7del" "r.spl" "p.?" "" "0000989569" "00013684" "90" "6939" "0" "6939" "0" "c.6939dup" "r.(?)" "p.(Gly2314TrpfsTer8)" "" "0000989570" "00013684" "90" "466" "0" "478" "0" "c.466_478del" "r.(?)" "p.(Thr156SerfsTer46)" "" "0000989571" "00013684" "90" "8224" "0" "8225" "0" "c.8224_8225dup" "r.(?)" "p.(Asp2742GlufsTer9)" "" "0000989572" "00013684" "70" "162" "-15288" "9517" "769" "c.(?_162-15288)_(9517+769_?)del" "r.?" "p.?" "" "0000989573" "00013684" "90" "3462" "0" "3462" "0" "c.3462del" "r.(?)" "p.(Val1156Ter)" "" "0000989574" "00013684" "90" "8543" "0" "8543" "0" "c.8543del" "r.(?)" "p.(Asn2848MetfsTer15)" "" "0000989575" "00013684" "90" "1864" "0" "1864" "0" "c.1864G>T" "r.(?)" "p.(Glu622Ter)" "" "0000989576" "00013684" "90" "12584" "0" "12584" "0" "c.12584del" "r.(?)" "p.(Pro4195HisfsTer23)" "" "0000989577" "00013684" "90" "2816" "0" "2817" "0" "c.2816_2817del" "r.(?)" "p.(Ser939TyrfsTer10)" "" "0000989578" "00013684" "90" "14344" "-1" "14344" "-1" "c.14344-1G>A" "r.spl" "p.?" "" "0000989579" "00013684" "90" "6196" "0" "6196" "0" "c.6196C>T" "r.(?)" "p.(Arg2066Ter)" "" "0000989580" "00013684" "70" "3499" "1" "3499" "1" "c.3499+1G>T" "r.spl" "p.?" "" "0000989581" "00013684" "90" "4441" "0" "4441" "0" "c.4441C>T" "r.(?)" "p.(Arg1481Ter)" "" "0000989582" "00013684" "90" "8395" "0" "8395" "0" "c.8395C>T" "r.(?)" "p.(Gln2799Ter)" "" "0000989583" "00013684" "90" "5403" "0" "5404" "0" "c.5403_5404del" "r.(?)" "p.(Pro1802LysfsTer2)" "" "0000989584" "00013684" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Gln103Ter)" "" "0000989585" "00013684" "90" "13621" "0" "13621" "0" "c.13621C>T" "r.(?)" "p.(Arg4541Ter)" "" "0000989586" "00013684" "90" "11983" "0" "11983" "0" "c.11983C>T" "r.(?)" "p.(Arg3995Ter)" "" "0000989587" "00013684" "70" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Ter)" "" "0000989588" "00013684" "90" "454" "0" "454" "0" "c.454del" "r.(?)" "p.(Gln152AsnfsTer4)" "" "0000989589" "00013684" "90" "5743" "0" "5743" "0" "c.5743dup" "r.(?)" "p.(Ser1915PhefsTer20)" "" "0000989590" "00013684" "90" "5743" "0" "5743" "0" "c.5743dup" "r.(?)" "p.(Ser1915PhefsTer20)" "" "0000989591" "00013684" "90" "8395" "0" "8395" "0" "c.8395C>T" "r.(?)" "p.(Gln2799Ter)" "" "0000989592" "00013684" "90" "13107" "0" "13108" "0" "c.13107_13108dup" "r.(?)" "p.(Thr4370ArgfsTer11)" "" "0000989593" "00013684" "90" "13618" "0" "13618" "0" "c.13618C>T" "r.(?)" "p.(Gln4540Ter)" "" "0000989594" "00013684" "70" "5266" "-1" "7442" "1" "c.(5265+1_5266-1)_(7442+1_7443-1)del" "r.?" "p.?" "" "0000989595" "00013684" "70" "5266" "-1" "7442" "1" "c.(5265+1_5266-1)_(7442+1_7443-1)del" "r.?" "p.?" "" "0000989596" "00013684" "70" "5266" "-1" "7442" "1" "c.(5265+1_5266-1)_(7442+1_7443-1)del" "r.?" "p.?" "" "0000989597" "00013684" "70" "14077" "0" "14077" "0" "c.14077C>T" "r.(?)" "p.(Arg4693Ter)" "" "0000989598" "00013684" "90" "8470" "0" "8470" "0" "c.8470dup" "r.(?)" "p.(Thr2824AsnfsTer9)" "" "0000989599" "00013684" "90" "8470" "0" "8470" "0" "c.8470dup" "r.(?)" "p.(Thr2824AsnfsTer9)" "" "0000989600" "00013684" "90" "" "0" "" "0" "c.-219_(2652+310_?){0}" "r.0?" "p.0?" "" "0000989601" "00013684" "90" "11506" "0" "11506" "0" "c.11506C>T" "r.(?)" "p.(Gln3836Ter)" "" "0000989602" "00013684" "70" "1012" "1" "1012" "1" "c.1012+1G>C" "r.spl" "p.?" "" "0000989603" "00013684" "90" "1013" "-1" "1013" "-1" "c.1013-1G>A" "r.spl" "p.?" "" "0000989604" "00013684" "90" "850" "-8133" "3712" "522" "c.(?_850-8133)_(3712+522_?)del" "r.?" "p.?" "" "0000989605" "00013684" "70" "10724" "0" "10725" "0" "c.10724_10725dup" "r.(?)" "p.(Ile3576LeufsTer2)" "" "0000989606" "00013684" "70" "14458" "0" "14458" "0" "c.14458C>T" "r.(?)" "p.(Gln4820Ter)" "" "0000989607" "00013684" "70" "14335" "0" "14335" "0" "c.14335C>G" "r.(?)" "p.(Arg4779Gly)" "" "0000989608" "00013684" "70" "7042" "0" "7042" "0" "c.7042C>T" "r.(?)" "p.(Gln2348Ter)" "" "0000989609" "00013684" "70" "250" "543" "8947" "0" "c.(?_250+543)_(8947_?)dup" "r.?" "p.?" "" "0000989610" "00013684" "90" "8390" "0" "8390" "0" "c.8390dup" "r.(?)" "p.(Glu2798GlyfsTer11)" "" "0000989611" "00013684" "90" "8390" "0" "8390" "0" "c.8390dup" "r.(?)" "p.(Glu2798GlyfsTer11)" "" "0000989612" "00013684" "90" "14031" "5" "14031" "5" "c.14031+5G>A" "r.spl" "p.?" "" "0000989613" "00013684" "70" "7828" "0" "7828" "0" "c.7828C>T" "r.(?)" "p.(Arg2610Ter)" "" "0000989614" "00013684" "70" "250" "7585" "849" "14881" "c.(?_250+7585)_(849+14881_?)del" "r.?" "p.?" "" "0000989615" "00013684" "90" "1332" "0" "1332" "0" "c.1332del" "r.(?)" "p.(Ser445LeufsTer10)" "" "0000989616" "00013684" "90" "849" "12270" "4660" "109" "c.(?_849+12270)_(4660+109_?)del" "r.?" "p.?" "" "0000989617" "00013684" "90" "9891" "0" "9891" "0" "c.9891del" "r.(?)" "p.(Thr3298ProfsTer2)" "" "0000989618" "00013684" "90" "3574" "0" "3574" "0" "c.3574del" "r.(?)" "p.(Val1192LeufsTer13)" "" "0000989619" "00013684" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Cys1078Tyr)" "" "0000989620" "00013684" "70" "13229" "0" "13229" "0" "c.13229A>G" "r.(?)" "p.(Asp4410Gly)" "" "0000989621" "00013684" "90" "10374" "0" "10374" "0" "c.10374dup" "r.(?)" "p.(Pro3459ThrfsTer3)" "" "0000989622" "00013684" "90" "14073" "0" "14073" "0" "c.14073C>A" "r.(?)" "p.(Tyr4691Ter)" "" "0000989623" "00013684" "70" "1238" "0" "1254" "0" "c.1238_1254del" "r.(?)" "p.(Tyr413SerfsTer28)" "" "0000989624" "00013684" "70" "13783" "0" "13783" "0" "c.13783C>T" "r.(?)" "p.(Arg4595Cys)" "" "0000989625" "00013684" "70" "7042" "0" "7042" "0" "c.7042C>T" "r.(?)" "p.(Gln2348Ter)" "" "0000996306" "00013684" "30" "13789" "0" "13789" "0" "c.13789C>T" "r.(?)" "p.(Arg4597Cys)" "" "0000996307" "00013684" "50" "12884" "0" "12884" "0" "c.12884T>C" "r.(?)" "p.(Leu4295Pro)" "" "0000996308" "00013684" "30" "12815" "0" "12815" "0" "c.12815C>T" "r.(?)" "p.(Thr4272Met)" "" "0000996309" "00013684" "70" "12666" "1" "12666" "1" "c.12666+1del" "r.(?)" "p.(Asp4223Ilefs*9)" "" "0000996310" "00013684" "30" "12524" "0" "12524" "0" "c.12524A>G" "r.(?)" "p.(Asn4175Ser)" "" "0000996311" "00013684" "30" "12443" "0" "12443" "0" "c.12443C>T" "r.(?)" "p.(Pro4148Leu)" "" "0000996312" "00013684" "30" "12370" "0" "12370" "0" "c.12370A>G" "r.(?)" "p.(Met4124Val)" "" "0000996313" "00013684" "30" "11858" "0" "11858" "0" "c.11858C>T" "r.(?)" "p.(Pro3953Leu)" "" "0000996314" "00013684" "50" "11491" "0" "11491" "0" "c.11491T>A" "r.(?)" "p.(Phe3831Ile)" "" "0000996315" "00013684" "30" "11141" "0" "11141" "0" "c.11141A>G" "r.(?)" "p.(Lys3714Arg)" "" "0000996316" "00013684" "30" "10885" "0" "10885" "0" "c.10885A>G" "r.(?)" "p.(Ile3629Val)" "" "0000996317" "00013684" "70" "10815" "0" "10819" "0" "c.10815_10819dup" "r.(?)" "p.(Thr3607Lysfs*25)" "" "0000996318" "00013684" "30" "10777" "0" "10777" "0" "c.10777T>C" "r.(?)" "p.(Tyr3593His)" "" "0000996319" "00013684" "30" "10306" "0" "10306" "0" "c.10306A>G" "r.(?)" "p.(Met3436Val)" "" "0000996320" "00013684" "30" "10301" "0" "10301" "0" "c.10301A>G" "r.(?)" "p.(His3434Arg)" "" "0000996321" "00013684" "50" "10231" "0" "10231" "0" "c.10231C>A" "r.(?)" "p.(Gln3411Lys)" "" "0000996322" "00013684" "30" "9987" "0" "9987" "0" "c.9987G>A" "r.(?)" "p.(Met3329Ile)" "" "0000996323" "00013684" "30" "9856" "0" "9856" "0" "c.9856C>T" "r.(?)" "p.(Pro3286Ser)" "" "0000996324" "00013684" "30" "9529" "0" "9529" "0" "c.9529C>T" "r.(?)" "p.(Arg3177Cys)" "" "0000996325" "00013684" "30" "9448" "0" "9448" "0" "c.9448C>T" "r.(?)" "p.(Pro3150Ser)" "" "0000996326" "00013684" "30" "9236" "0" "9236" "0" "c.9236G>A" "r.(?)" "p.(Arg3079Gln)" "" "0000996327" "00013684" "50" "8086" "0" "8086" "0" "c.8086G>A" "r.(?)" "p.(Val2696Met)" "" "0000996328" "00013684" "30" "7930" "0" "7930" "0" "c.7930A>G" "r.(?)" "p.(Met2644Val)" "" "0000996329" "00013684" "30" "7443" "-2" "7443" "-2" "c.7443-2dup" "r.spl?" "p.?" "" "0000996330" "00013684" "30" "7372" "0" "7372" "0" "c.7372T>C" "r.(?)" "p.(Phe2458Leu)" "" "0000996331" "00013684" "30" "7058" "0" "7058" "0" "c.7058C>T" "r.(?)" "p.(Ser2353Phe)" "" "0000996332" "00013684" "30" "6916" "0" "6916" "0" "c.6916C>T" "r.(?)" "p.(Pro2306Ser)" "" "0000996333" "00013684" "50" "6743" "0" "6743" "0" "c.6743A>T" "r.(?)" "p.(Asp2248Val)" "" "0000996334" "00013684" "50" "6680" "0" "6680" "0" "c.6680C>A" "r.(?)" "p.(Pro2227Gln)" "" "0000996335" "00013684" "30" "6674" "0" "6674" "0" "c.6674C>T" "r.(?)" "p.(Pro2225Leu)" "" "0000996336" "00013684" "50" "6590" "0" "6590" "0" "c.6590A>G" "r.(?)" "p.(Gln2197Arg)" "" "0000996337" "00013684" "30" "5809" "0" "5809" "0" "c.5809C>G" "r.(?)" "p.(Gln1937Glu)" "" "0000996338" "00013684" "30" "5735" "0" "5735" "0" "c.5735A>G" "r.(?)" "p.(His1912Arg)" "" "0000996339" "00013684" "50" "5537" "0" "5537" "0" "c.5537T>G" "r.(?)" "p.(Val1846Gly)" "" "0000996340" "00013684" "30" "5477" "0" "5477" "0" "c.5477A>G" "r.(?)" "p.(His1826Arg)" "" "0000996341" "00013684" "50" "5260" "0" "5260" "0" "c.5260A>G" "r.(?)" "p.(Arg1754Gly)" "" "0000996342" "00013684" "30" "4765" "0" "4765" "0" "c.4765A>G" "r.(?)" "p.(Ile1589Val)" "" "0000996343" "00013684" "50" "4660" "3" "4660" "3" "c.4660+3A>G" "r.spl?" "p.?" "" "0000996344" "00013684" "30" "4576" "0" "4576" "0" "c.4576G>T" "r.(?)" "p.(Ala1526Ser)" "" "0000996345" "00013684" "50" "3946" "0" "3946" "0" "c.3946C>A" "r.(?)" "p.(Pro1316Thr)" "" "0000996346" "00013684" "50" "3818" "0" "3818" "0" "c.3818G>T" "r.(?)" "p.(Arg1273Ile)" "" "0000996347" "00013684" "50" "3725" "0" "3725" "0" "c.3725T>C" "r.(?)" "p.(Met1242Thr)" "" "0000996348" "00013684" "30" "3503" "0" "3503" "0" "c.3503C>T" "r.(?)" "p.(Pro1168Leu)" "" "0000996349" "00013684" "30" "3154" "0" "3154" "0" "c.3154A>C" "r.(?)" "p.(Lys1052Gln)" "" "0000996350" "00013684" "50" "2875" "0" "2875" "0" "c.2875A>T" "r.(?)" "p.(Met959Leu)" "" "0000996351" "00013684" "30" "2017" "0" "2017" "0" "c.2017C>A" "r.(?)" "p.(Pro673Thr)" "" "0000996352" "00013684" "30" "1966" "0" "1966" "0" "c.1966G>A" "r.(?)" "p.(Val656Ile)" "" "0000996353" "00013684" "30" "1925" "0" "1925" "0" "c.1925A>G" "r.(?)" "p.(Gln642Arg)" "" "0000996354" "00013684" "30" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Val533Met)" "" "0000996355" "00013684" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526His)" "" "0000996356" "00013684" "30" "1429" "0" "1429" "0" "c.1429G>C" "r.(?)" "p.(Glu477Gln)" "" "0000996357" "00013684" "30" "1402" "0" "1402" "0" "c.1402C>G" "r.(?)" "p.(Pro468Ala)" "" "0000996359" "00013684" "30" "722" "0" "722" "0" "c.722C>G" "r.(?)" "p.(Ala241Gly)" "" "0000996360" "00013684" "30" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Ile237Val)" "" "0000996361" "00013684" "30" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Ala188Thr)" "" "0000996362" "00013684" "30" "319" "0" "319" "0" "c.319A>C" "r.(?)" "p.(Thr107Pro)" "" "0001007123" "00013684" "70" "1851" "0" "1851" "0" "c.1851dup" "r.(?)" "p.(Gln618ThrfsTer4)" "" "0001011148" "00013684" "70" "6949" "0" "6949" "0" "c.6949C>G" "r.(?)" "p.(Gln2317Glu)" "" "0001014326" "00013684" "70" "13178" "0" "13178" "0" "c.13178del" "r.(?)" "p.(Asp4393Valfs*20)" "" "0001014327" "00013684" "50" "10843" "0" "10843" "0" "c.10843G>A" "r.(?)" "p.(Asp3615Asn)" "" "0001014328" "00013684" "50" "5915" "0" "5915" "0" "c.5915C>A" "r.(?)" "p.(Pro1972His)" "" "0001014329" "00013684" "30" "2532" "6" "2532" "6" "c.2532+6G>A" "r.(=)" "p.(=)" "" "0001017719" "00013684" "70" "4378" "1" "4378" "1" "c.4378+1G>A" "r.spl" "p.?" "" "0001019123" "00013684" "50" "13451" "0" "13451" "0" "c.13451A>T" "r.?" "p.(His4484Leu)" "52" "0001022203" "00013684" "70" "740" "-2" "740" "-2" "c.740-2A>C" "r.[740_781del,740_771del,=]" "p.[Thr248_Gly261del,Gly247ValfsTer32,=]" "5i" "0001036211" "00013684" "30" "14644" "-211" "14644" "-211" "c.14644-211G>C" "r.(=)" "p.(=)" "" "0001036212" "00013684" "30" "14534" "10" "14534" "10" "c.14534+10C>G" "r.(=)" "p.(=)" "" "0001036213" "00013684" "30" "12655" "0" "12655" "0" "c.12655C>G" "r.(?)" "p.(Leu4219Val)" "" "0001036214" "00013684" "30" "12557" "0" "12557" "0" "c.12557G>A" "r.(?)" "p.(Gly4186Asp)" "" "0001036215" "00013684" "30" "11153" "0" "11153" "0" "c.11153T>G" "r.(?)" "p.(Ile3718Arg)" "" "0001036216" "00013684" "30" "10723" "0" "10723" "0" "c.10723A>G" "r.(?)" "p.(Thr3575Ala)" "" "0001036217" "00013684" "50" "10162" "0" "10162" "0" "c.10162A>G" "r.(?)" "p.(Asn3388Asp)" "" "0001036218" "00013684" "50" "9680" "0" "9680" "0" "c.9680C>T" "r.(?)" "p.(Pro3227Leu)" "" "0001036219" "00013684" "30" "7490" "0" "7490" "0" "c.7490G>A" "r.(?)" "p.(Arg2497His)" "" "0001036220" "00013684" "30" "7443" "-1" "7443" "-1" "c.7443-1G>T" "r.spl?" "p.?" "" "0001036221" "00013684" "30" "7443" "-18" "7443" "-6" "c.7443-18_7443-6del" "r.(=)" "p.(=)" "" "0001036222" "00013684" "30" "7443" "-7" "7443" "-6" "c.7443-7_7443-6del" "r.(=)" "p.(=)" "" "0001036223" "00013684" "30" "6959" "0" "6959" "0" "c.6959A>G" "r.(?)" "p.(His2320Arg)" "" "0001036224" "00013684" "30" "6038" "0" "6038" "0" "c.6038G>A" "r.(?)" "p.(Arg2013Lys)" "" "0001036225" "00013684" "30" "4777" "0" "4777" "0" "c.4777T>C" "r.(?)" "p.(Ser1593Pro)" "" "0001036226" "00013684" "30" "4729" "0" "4729" "0" "c.4729T>G" "r.(?)" "p.(Leu1577Val)" "" "0001036227" "00013684" "30" "4274" "-302" "4274" "-302" "c.4274-302T>G" "r.(=)" "p.(=)" "" "0001036228" "00013684" "30" "4217" "0" "4217" "0" "c.4217C>T" "r.(?)" "p.(Pro1406Leu)" "" "0001036229" "00013684" "30" "3712" "1257" "3712" "1257" "c.3712+1257C>T" "r.(=)" "p.(=)" "" "0001036230" "00013684" "30" "2706" "0" "2706" "0" "c.2706G>A" "r.(?)" "p.(Ser902=)" "" "0001036231" "00013684" "30" "2653" "-285" "2653" "-285" "c.2653-285C>T" "r.(=)" "p.(=)" "" "0001036232" "00013684" "30" "2653" "-315" "2653" "-315" "c.2653-315T>C" "r.(=)" "p.(=)" "" "0001036233" "00013684" "30" "2652" "1347" "2652" "1347" "c.2652+1347G>A" "r.(=)" "p.(=)" "" "0001036234" "00013684" "30" "2652" "620" "2652" "620" "c.2652+620C>G" "r.(=)" "p.(=)" "" "0001036235" "00013684" "30" "2652" "440" "2652" "440" "c.2652+440G>T" "r.(=)" "p.(=)" "" "0001036236" "00013684" "30" "2534" "0" "2534" "0" "c.2534G>A" "r.(?)" "p.(Gly845Glu)" "" "0001036237" "00013684" "30" "2533" "-2523" "2533" "-2523" "c.2533-2523G>A" "r.(=)" "p.(=)" "" "0001036238" "00013684" "30" "2533" "-2536" "2533" "-2536" "c.2533-2536T>C" "r.(=)" "p.(=)" "" "0001036239" "00013684" "30" "2532" "281" "2532" "281" "c.2532+281T>A" "r.(=)" "p.(=)" "" "0001036240" "00013684" "30" "2532" "227" "2532" "227" "c.2532+227C>T" "r.(=)" "p.(=)" "" "0001036241" "00013684" "30" "2532" "190" "2532" "190" "c.2532+190T>C" "r.(=)" "p.(=)" "" "0001036242" "00013684" "30" "2532" "187" "2532" "187" "c.2532+187A>C" "r.(=)" "p.(=)" "" "0001036243" "00013684" "30" "2447" "0" "2447" "0" "c.2447dup" "r.(?)" "p.(Tyr816Ter)" "" "0001036244" "00013684" "30" "2378" "0" "2378" "0" "c.2378C>T" "r.(?)" "p.(Ser793Leu)" "" "0001036245" "00013684" "30" "2324" "0" "2324" "0" "c.2324A>G" "r.(?)" "p.(Asp775Gly)" "" "0001036246" "00013684" "30" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Val611Ala)" "" "0001036247" "00013684" "30" "1460" "0" "1460" "0" "c.1460T>C" "r.(?)" "p.(Met487Thr)" "" "0001036248" "00013684" "50" "1266" "0" "1266" "0" "c.1266G>A" "r.(?)" "p.(Met422Ile)" "" "0001036249" "00013684" "30" "1185" "-187" "1185" "-187" "c.1185-187G>A" "r.(=)" "p.(=)" "" "0001036250" "00013684" "30" "1184" "68" "1184" "68" "c.1184+68G>A" "r.(=)" "p.(=)" "" "0001036251" "00013684" "30" "1012" "95" "1012" "95" "c.1012+95T>A" "r.(=)" "p.(=)" "" "0001036252" "00013684" "30" "740" "-289" "740" "-289" "c.740-289G>A" "r.(=)" "p.(=)" "" "0001036253" "00013684" "30" "162" "-7" "162" "-7" "c.162-7del" "r.(=)" "p.(=)" "" "0001036254" "00013684" "30" "162" "-229" "162" "-229" "c.162-229T>C" "r.(=)" "p.(=)" "" "0001036255" "00013684" "30" "162" "-25886" "162" "-25886" "c.162-25886G>A" "r.(=)" "p.(=)" "" "0001036256" "00013684" "30" "162" "-28896" "162" "-28896" "c.162-28896G>A" "r.(=)" "p.(=)" "" "0001036257" "00013684" "30" "161" "33854" "161" "33854" "c.161+33854G>A" "r.(=)" "p.(=)" "" "0001036258" "00013684" "30" "161" "33562" "161" "33562" "c.161+33562G>A" "r.(=)" "p.(=)" "" "0001036259" "00013684" "30" "161" "33559" "161" "33559" "c.161+33559C>T" "r.(=)" "p.(=)" "" "0001036260" "00013684" "30" "161" "33508" "161" "33508" "c.161+33508del" "r.(=)" "p.(=)" "" "0001036261" "00013684" "30" "161" "33467" "161" "33467" "c.161+33467T>C" "r.(=)" "p.(=)" "" "0001036262" "00013684" "30" "161" "31968" "161" "31968" "c.161+31968C>G" "r.(=)" "p.(=)" "" "0001036263" "00013684" "30" "161" "29636" "161" "29637" "c.161+29636_161+29637del" "r.(=)" "p.(=)" "" "0001036264" "00013684" "30" "161" "22074" "161" "22074" "c.161+22074A>G" "r.(=)" "p.(=)" "" "0001036265" "00013684" "30" "161" "21416" "161" "21416" "c.161+21416T>A" "r.(=)" "p.(=)" "" "0001036266" "00013684" "30" "161" "19922" "161" "19922" "c.161+19922T>G" "r.(=)" "p.(=)" "" "0001036267" "00013684" "30" "161" "19056" "161" "19056" "c.161+19056del" "r.(=)" "p.(=)" "" "0001036268" "00013684" "30" "161" "18989" "161" "18989" "c.161+18989G>A" "r.(=)" "p.(=)" "" "0001045537" "00013684" "70" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Gln479Ter)" "" "0001047015" "00013684" "50" "3523" "0" "3523" "0" "c.3523G>T" "r.(?)" "p.(Asp1175Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 145 "{{screeningid}}" "{{variantid}}" "0000312593" "0000694194" "0000312594" "0000694195" "0000312595" "0000694196" "0000313140" "0000694874" "0000313141" "0000694875" "0000313142" "0000694876" "0000313143" "0000694877" "0000313144" "0000694878" "0000313145" "0000694879" "0000313146" "0000694880" "0000313147" "0000694881" "0000313148" "0000694882" "0000313149" "0000694883" "0000313150" "0000694884" "0000313151" "0000694885" "0000313152" "0000694886" "0000313153" "0000694887" "0000313220" "0000694954" "0000313221" "0000694955" "0000313222" "0000694956" "0000313223" "0000694957" "0000313224" "0000694958" "0000313225" "0000694959" "0000313226" "0000694960" "0000313227" "0000694961" "0000313228" "0000694962" "0000313229" "0000694963" "0000313230" "0000694964" "0000313231" "0000694965" "0000313232" "0000694966" "0000313233" "0000694967" "0000313234" "0000694968" "0000313235" "0000694969" "0000313236" "0000694970" "0000313237" "0000694971" "0000313238" "0000694972" "0000313239" "0000694973" "0000313240" "0000694974" "0000313241" "0000694975" "0000313242" "0000694976" "0000313243" "0000694977" "0000313244" "0000694978" "0000313245" "0000694979" "0000313246" "0000694980" "0000313247" "0000694981" "0000313248" "0000694982" "0000313249" "0000694983" "0000313250" "0000694984" "0000313251" "0000694985" "0000313252" "0000694986" "0000313253" "0000694987" "0000313254" "0000694988" "0000313255" "0000694989" "0000313256" "0000694990" "0000313257" "0000694991" "0000313258" "0000694992" "0000313259" "0000694993" "0000313260" "0000694994" "0000393097" "0000823705" "0000399859" "0000832506" "0000439798" "0000935927" "0000439799" "0000935928" "0000439871" "0000936000" "0000454626" "0000989509" "0000454630" "0000989515" "0000454631" "0000989516" "0000454632" "0000989517" "0000454633" "0000989518" "0000454634" "0000989519" "0000454665" "0000989554" "0000454666" "0000989555" "0000454667" "0000989556" "0000454668" "0000989557" "0000454669" "0000989558" "0000454670" "0000989559" "0000454671" "0000989560" "0000454672" "0000989561" "0000454673" "0000989562" "0000454674" "0000989563" "0000454675" "0000989564" "0000454676" "0000989565" "0000454677" "0000989566" "0000454678" "0000989567" "0000454679" "0000989568" "0000454680" "0000989569" "0000454681" "0000989570" "0000454682" "0000989571" "0000454683" "0000989572" "0000454684" "0000989573" "0000454685" "0000989574" "0000454686" "0000989575" "0000454687" "0000989576" "0000454688" "0000989577" "0000454689" "0000989578" "0000454690" "0000989579" "0000454691" "0000989580" "0000454692" "0000989581" "0000454693" "0000989582" "0000454694" "0000989583" "0000454695" "0000989584" "0000454696" "0000989585" "0000454697" "0000989586" "0000454698" "0000989587" "0000454699" "0000989588" "0000454700" "0000989589" "0000454701" "0000989590" "0000454702" "0000989591" "0000454703" "0000989592" "0000454704" "0000989593" "0000454704" "0001011148" "0000454705" "0000989594" "0000454706" "0000989595" "0000454707" "0000989596" "0000454708" "0000989597" "0000454709" "0000989598" "0000454710" "0000989599" "0000454711" "0000989600" "0000454712" "0000989601" "0000454713" "0000989602" "0000454714" "0000989603" "0000454715" "0000989604" "0000454716" "0000989605" "0000454717" "0000989606" "0000454718" "0000989607" "0000454719" "0000989608" "0000454720" "0000989609" "0000454721" "0000989610" "0000454722" "0000989611" "0000454723" "0000989612" "0000454724" "0000989613" "0000454725" "0000989614" "0000454726" "0000989615" "0000454727" "0000989616" "0000454728" "0000989617" "0000454729" "0000989618" "0000454730" "0000989619" "0000454731" "0000989620" "0000454732" "0000989621" "0000454733" "0000989622" "0000454734" "0000989623" "0000454735" "0000989624" "0000454736" "0000989625" "0000459629" "0001017719" "0000460151" "0001019123" "0000462676" "0001022203"