### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KMT2A)
# 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}}"
"KMT2A"	"lysine (K)-specific methyltransferase 2A"	"11"	"q23"	"unknown"	"NG_027813.1"	"UD_132084464871"	""	"http://www.LOVD.nl/KMT2A"	""	"1"	"7132"	"4297"	"159555"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/KMT2A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-12-11 07:29:05"	"00000"	"2025-07-08 13:22:38"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00024085"	"KMT2A"	"transcript variant 1"	"001"	"NM_001197104.1"	""	"NP_001184033.1"	""	""	""	"-23"	"16571"	"11919"	"118307205"	"118397539"	"00006"	"2015-12-11 07:27:49"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00291"	"ADHD"	"attention deficit-hyperactivity disorder (ADHD)"	"AD"	"143465"	""	""	""	"00006"	"2013-12-20 10:47:26"	"00006"	"2021-12-10 21:51:32"
"02534"	"WDSTS"	"Wiedemann-Steiner syndrome"	"PG"	"605130"	""	"thick eyebrows, synophrys and thick eyelashes with vertically narrow and down-slanting palpebral fissures.  \r\nglobal developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); no obesity (-HP:0001513); digital abnormalities (HP_0011297); hypertrichosis over their forearms, legs and back"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-01-03 20:54:56"
"03237"	"ALL"	"leukemia, lymphoid, acute (ALL)"	""	"613065"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2016-03-20 12:15:43"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"04281"	"CDLS"	"Cornelia de Lange syndrome (CDLS)"	""	""	""	""	""	"00006"	"2015-06-15 14:50:45"	""	""
"04549"	"KMT2A"	"leukemia, myeloid/lymphoid or mixed-lineage (KMT-2A)"	""	"159555"	""	""	""	"00000"	"2015-09-23 10:25:22"	"00006"	"2021-12-10 21:51:32"
"05521"	"seizures"	"seizures"	""	""	""	""	""	"00006"	"2018-11-18 17:02:13"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"KMT2A"	"02534"
"KMT2A"	"04549"


## Individuals ## Do not remove or alter this header ##
## Count = 135
"{{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}}"
"00050376"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050463"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050630"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050660"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135},{PMID:Faundes 2018:29276005}"	"affected, unknown family members"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050686"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00056281"	""	""	""	"1"	""	"01482"	"{PMID:Jones 2012:22795537}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00056283"	""	""	""	"1"	""	"01482"	"{PMID:Jones WD. 2012:22795537}"	""	"F"	""	""	""	"0"	""	""	""	""
"00056284"	""	""	""	"1"	""	"01482"	"{PMID:Jones WD. 2012:22795537}"	""	"F"	""	""	""	"0"	""	""	""	""
"00056286"	""	""	""	"1"	""	"01482"	"{PMID:Jones WD. 2012:22795537}"	""	"M"	""	""	""	"0"	""	""	""	""
"00056289"	""	""	""	"1"	""	"01482"	"{PMID:Jones WD. 2012:22795537}"	""	"F"	""	""	""	"0"	""	""	""	""
"00056290"	""	""	""	"1"	""	"01482"	"{PMID:Strom 2014:24886118}"	""	"F"	""	"Mexico"	""	"0"	""	""	""	""
"00056291"	""	""	""	"1"	""	"01482"	"{PMID:Strom 2014:24886118}"	"Caucasian (maternal) and Mexican (paternal) ancestry"	"M"	""	"Mexico"	""	"0"	""	""	"Mexican;white"	""
"00056292"	""	""	""	"1"	""	"01482"	"{PMID:Mendelsohn 2014:24818805}"	""	"F"	""	"United States"	""	"0"	""	""	"Hispanic"	""
"00056297"	""	""	""	"2"	""	"01482"	"{PMID:Calvel 2015:26544196}"	"2-generation family, affected boy and brother (different variants/phenotypes)"	"F"	""	"Poland"	""	"0"	""	""	""	""
"00056298"	""	""	""	"2"	""	"01482"	"{PMID:Dunkerton 2015:25929198}"	"monozygotic twin pair"	"F"	""	"Australia"	""	"0"	""	""	""	""
"00056300"	""	""	"00056298"	"1"	""	"01482"	"{PMID:Dunkerton 2015:25929198}"	"monozygotic twin pair"	"F"	""	"Australia"	""	"0"	""	""	""	""
"00056303"	""	""	""	"1"	""	"01482"	"{PMID:Miyake 2015:25810209}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00056305"	""	""	""	"1"	""	"01482"	"{PMID:Miyake 2015:25810209}"	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00056306"	""	""	""	"1"	""	"01482"	"{PMID:Miyake 2015:25810209}"	""	"M"	""	"Australia"	""	"0"	""	""	""	""
"00056307"	""	""	""	"1"	""	"01482"	"{PMID:Miyake 2015:25810209}"	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00056308"	""	""	""	"1"	""	"01482"	"{PMID:Miyake 2015:25810209}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00056309"	""	""	""	"1"	""	"01482"	"{PMID:Yuan 2015:25574841}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	""
"00056380"	""	""	""	"1"	""	"00006"	"{PMID:Miyake 2015:25810209}"	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00064037"	""	""	""	"1"	""	"01482"	""	""	"M"	"no"	"China"	""	"0"	""	""	"Han Chinese"	""
"00064038"	""	""	""	"1"	""	"01482"	""	""	"M"	"no"	"China"	""	"0"	""	""	"Han Chinese"	""
"00079629"	""	""	""	"1"	""	"01482"	"{PMID:Stellacci 2016:27320412}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	"no"	"Italy"	""	"0"	""	""	"Italian"	""
"00079630"	""	""	""	"1"	""	"01482"	"{PMID:Steel 2015:26690532}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	"yes"	"United Arab Emirates"	""	"0"	""	""	"Arabian"	""
"00079631"	""	""	""	"1"	""	"01482"	"{PMID:Zemojtel 2014:25186178}"	""	"F"	"?"	""	""	"0"	""	""	""	""
"00079632"	""	""	""	"1"	""	"01482"	"{PMID:Zemojtel 2014:25186178}"	""	"M"	""	""	""	"0"	""	""	""	""
"00080873"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}, {PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	"unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Ind081;Pat3"
"00080907"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00081016"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00089138"	""	""	""	"1"	""	"01839"	""	""	"M"	"no"	""	""	"0"	""	""	""	""
"00105338"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"Patient 1"
"00105339"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"Patient 2"
"00105340"	""	""	""	"1"	""	"00067"	"Patient 3"	""	"M"	"no"	"France"	""	"0"	""	""	""	""
"00105341"	""	""	""	"1"	""	"00067"	""	""	"F"	"no"	"France"	""	"0"	""	""	""	"Patient 4"
"00105412"	""	""	""	"1"	""	"00067"	""	""	"F"	"no"	"France"	""	"0"	""	""	""	"RTT4662"
"00105413"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"RTT4575"
"00105414"	""	""	""	"1"	""	"00067"	"RTT4399"	""	"M"	"no"	"France"	""	"0"	""	""	""	""
"00105415"	""	""	""	"1"	""	"00067"	""	""	"F"	""	"France"	""	"0"	""	""	""	"RTT4581"
"00105416"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"16DI000153"
"00105417"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"RTT4306"
"00105418"	""	""	""	"1"	""	"00067"	""	""	"F"	"no"	"France"	""	"0"	""	""	""	"RTT3997"
"00105419"	""	""	""	"1"	""	"00067"	""	""	"F"	""	"France"	""	"0"	""	""	""	"RTT4079"
"00105420"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"RTT4048"
"00105421"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"RTT4482"
"00105422"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"16DI00285"
"00105423"	""	""	""	"1"	""	"00067"	""	""	"M"	"no"	"France"	""	"0"	""	""	""	"16DI00056"
"00111395"	""	""	""	"1"	""	"00729"	"{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}"	""	"M"	"no"	""	""	"0"	""	""	""	"S_129"
"00154953"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00154966"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00165103"	""	""	""	"1"	""	"00067"	""	""	"F"	"no"	"France"	"10y"	"0"	""	""	"white"	""
"00183670"	""	""	""	"1"	""	"00006"	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	""	""	"Spain"	""	"0"	""	""	""	"27620904-Pat15"
"00183681"	""	""	""	"1"	""	"00006"	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	""	""	"Spain"	""	"0"	""	""	""	"27620904-Pat26"
"00207351"	""	""	""	"1"	""	"03112"	""	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00207871"	""	""	""	"3"	""	"00006"	"{PMID:Bogaert 2017:28623346}"	"2-generation family, affected twin pair/mother"	"F;M"	"no"	"Belgium"	""	"0"	""	""	""	"28623346-Fam1PatII2/3"
"00211186"	""	""	""	"1"	""	"03145"	""	""	"M"	"no"	"China"	"07y"	"0"	""	""	"African"	"183121"
"00273166"	""	""	""	"1"	""	"02061"	""	""	"M"	"?"	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00275545"	""	""	""	"1"	""	"03112"	"{PMID:Di Fede 2021:32641752}"	""	"M"	""	""	""	"0"	""	""	""	""
"00275547"	""	""	""	"1"	""	"03112"	"{PMID:Di Fede 2021:32641752}"	""	"F"	""	""	""	"0"	""	""	""	""
"00275548"	""	""	""	"1"	""	"03112"	"{PMID:Di Fede 2021:32641752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00275549"	""	""	""	"1"	""	"03112"	"{PMID:Di Fede 2021:32641752}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00275550"	""	""	""	"1"	""	"03112"	"{PMID:Di Fede 2021:32641752}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00275551"	""	""	""	"1"	""	"03112"	"{PMID:Di Fede 2021:32641752}"	""	"M"	""	""	""	"0"	""	""	""	""
"00275694"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"F"	"no"	"Italy"	""	"0"	""	""	"white"	"Pat1"
"00276049"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00276273"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00276274"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"M"	""	""	""	"0"	""	""	""	"Pat5"
"00276275"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00276276"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"F"	""	""	""	"0"	""	""	""	"Pat7"
"00276277"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00276278"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"M"	""	""	""	"0"	""	""	""	"Pat11"
"00276279"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	"This is NOT the individual described as Patient n.1 in Lebrun N. et al., 2018, Eur J Hum Genet 26(1)."	"M"	""	"(Netherlands)"	""	"0"	""	""	""	"Pat8"
"00276280"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00288195"	""	""	""	"1"	""	"00006"	"{PMID:Lee 2019:31607746}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat5"
"00290255"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295916"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00301403"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00303011"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat56"
"00303012"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat57"
"00303013"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat58"
"00303090"	""	""	""	"1"	""	"00006"	"{PMID:Brassesco 2018:30553463}"	""	""	""	"Brazil"	""	"0"	""	""	""	"patient"
"00303963"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00306251"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00307686"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00311456"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"269326"
"00311457"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"267484"
"00311458"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"271660"
"00311459"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"264200"
"00311460"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"269183"
"00311461"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"270903"
"00311462"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"265963"
"00311463"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"264500"
"00311464"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"264154"
"00311465"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"273049"
"00311466"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"271611"
"00311467"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"259227"
"00311468"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"259427"
"00311469"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"264841"
"00311470"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"277782"
"00311471"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"265131"
"00311472"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"273060"
"00311473"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"272567"
"00311474"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"273901"
"00311475"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"272986"
"00311509"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"270025"
"00311510"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"270025"
"00311511"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"275901"
"00311512"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	""	""	"0"	""	""	""	"268150"
"00315009"	""	""	""	"1"	""	"00006"	"{PMID:Squeo 2020:32170002}"	"analysis 263 cases chromatin-related disorder"	""	""	"Italy"	""	"0"	""	""	""	"GDB1202"
"00315028"	""	""	""	"1"	""	"00006"	"{PMID:Squeo 2020:32170002}"	"analysis 263 cases chromatin-related disorder"	""	""	"Italy"	""	"0"	""	""	""	"GDB1054"
"00320169"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00325872"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Serbia"	""	"0"	""	""	""	"173296"
"00326206"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"169933"
"00361592"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:27431290}"	"simplex case"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"10DG0298"
"00380227"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Greece"	""	"0"	""	""	""	"182587"
"00380820"	""	""	""	"1"	""	"00000"	"{PMID:Nair 2018:30293248}"	""	"?"	""	"Lebanon"	""	"0"	""	""	""	"?"
"00410025"	""	""	""	"1"	""	"03555"	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"F"	""	""	""	"0"	""	""	""	"Pat10"
"00438314"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat32"
"00440362"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED1433.3"
"00440415"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2373.1"
"00440426"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2683.1"
"00443882"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"276534"
"00448213"	""	""	""	"1"	""	"00006"	"{PMID:Poli 2024:38177409}"	""	"M"	""	"Chile"	""	"0"	""	""	""	"Pat104"
"00448225"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"284769"
"00448824"	""	""	""	"1"	""	"04169"	""	""	"M"	"no"	"Italy"	""	""	""	""	""	""
"00449694"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"8111"
"00449842"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	""	""
"00455982"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"296147"
"00457917"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00457921"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00458095"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00458110"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00460953"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 136
"{{individualid}}"	"{{diseaseid}}"
"00050376"	"00198"
"00050463"	"00198"
"00050630"	"00198"
"00050660"	"00198"
"00050686"	"00198"
"00056281"	"02534"
"00056283"	"02534"
"00056284"	"02534"
"00056286"	"02534"
"00056289"	"02534"
"00056290"	"02534"
"00056291"	"02534"
"00056292"	"02534"
"00056297"	"00198"
"00056297"	"02534"
"00056298"	"02534"
"00056300"	"02534"
"00056303"	"02534"
"00056305"	"02534"
"00056306"	"02534"
"00056307"	"02534"
"00056308"	"02534"
"00056309"	"02534"
"00056380"	"02534"
"00064037"	"02534"
"00064038"	"02534"
"00079629"	"02534"
"00079630"	"02534"
"00079631"	"02534"
"00079632"	"02534"
"00080873"	"02534"
"00080907"	"02534"
"00081016"	"02534"
"00089138"	"02534"
"00105338"	"00139"
"00105339"	"00139"
"00105340"	"00139"
"00105341"	"00139"
"00105412"	"00139"
"00105413"	"00139"
"00105414"	"00139"
"00105415"	"00139"
"00105416"	"00139"
"00105417"	"00139"
"00105418"	"00139"
"00105419"	"00139"
"00105420"	"00139"
"00105421"	"00139"
"00105422"	"00139"
"00105423"	"00139"
"00111395"	"02534"
"00154953"	"00198"
"00154966"	"00198"
"00165103"	"00139"
"00183670"	"00139"
"00183681"	"00139"
"00207351"	"02534"
"00207871"	"00198"
"00211186"	"02534"
"00273166"	"00291"
"00275545"	"00198"
"00275547"	"00198"
"00275548"	"00198"
"00275549"	"00198"
"00275550"	"00198"
"00275551"	"00198"
"00275694"	"02534"
"00276049"	"00198"
"00276273"	"02534"
"00276274"	"02534"
"00276275"	"02534"
"00276276"	"02534"
"00276277"	"02534"
"00276278"	"02534"
"00276279"	"02534"
"00276280"	"02534"
"00288195"	"00198"
"00290255"	"00198"
"00295916"	"00198"
"00301403"	"00198"
"00303011"	"05521"
"00303012"	"05521"
"00303013"	"05521"
"00303090"	"03237"
"00303963"	"00198"
"00306251"	"00198"
"00307686"	"00198"
"00311456"	"00198"
"00311457"	"00198"
"00311458"	"00198"
"00311459"	"00198"
"00311460"	"00198"
"00311461"	"00198"
"00311462"	"00198"
"00311463"	"00198"
"00311464"	"00198"
"00311465"	"00198"
"00311466"	"00198"
"00311467"	"00198"
"00311468"	"00198"
"00311469"	"00198"
"00311470"	"00198"
"00311471"	"00198"
"00311472"	"00198"
"00311473"	"00198"
"00311474"	"00198"
"00311475"	"00198"
"00311509"	"00198"
"00311510"	"00198"
"00311511"	"00198"
"00311512"	"00198"
"00315009"	"00198"
"00315028"	"00198"
"00320169"	"00198"
"00325872"	"04281"
"00326206"	"02534"
"00361592"	"00139"
"00380227"	"02534"
"00380820"	"02534"
"00410025"	"02534"
"00438314"	"04270"
"00440362"	"00198"
"00440415"	"00198"
"00440426"	"00198"
"00443882"	"02534"
"00448213"	"00198"
"00448225"	"02534"
"00448824"	"00198"
"00449694"	"02534"
"00449842"	"00198"
"00455982"	"02534"
"00457917"	"05611"
"00457921"	"05611"
"00458095"	"05611"
"00458110"	"00198"
"00460953"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00291, 02534, 03237, 04270, 04281, 04549, 05521, 05611
## Count = 132
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Growth/Height_SDS}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000036988"	"00198"	"00050376"	"00006"	"Isolated (sporadic)"	""	"epicanthus, prominent nasal bridge, global developmental delay, delayed speech and language development"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037075"	"00198"	"00050463"	"00006"	"Isolated (sporadic)"	""	"autism, intellectual disability, behavioural/psychiatric abnormality, prominent nose, patent ductus arteriosus, arnold-chiari type i malformation"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037242"	"00198"	"00050630"	"00006"	"Isolated (sporadic)"	""	"intellectual disability, proportionate short stature, highly arched eyebrow, high anterior hairline, high forehead, short neck, high-arched palate, clinodactyly of the 5th finger, sandal gap, 2-3 toe syndactyly"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037272"	"00198"	"00050660"	"00006"	"Unknown"	""	"global developmental delay, microcephaly, clinodactyly of the 5th finger, short nose"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037298"	"00198"	"00050686"	"00006"	"Isolated (sporadic)"	""	"global developmental delay, abnormal facial shape, mild short stature, abnormality of the cardiac septa"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042912"	"02534"	"00056281"	"01482"	"Familial, autosomal dominant"	"06y"	"Eyebrow lateral flare\r\nThick eyebrows\r\nLong eyelashes\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nWide nasal bridge\r\nBroad nasal tip\r\nUpper vermillion border, thin \r\nBroad first digits\r\nSlim and muscular build\r\nRib anomalies\r\nSacral dimple\r\nConstipation\r\nFeeding difficulties\r\nNasogastric and percutaneous endoscopic gastrostomy feeding\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nDevelopmental delay\r\nIntellectual disability\r\nAutism\r\nAggressive behavior\r\nPoor sleep\r\nShort stature\r\nPostnatal growth retardation"	""	"weight 75th percentile"	"6y height 0.4th-2nd; weight 2nd-9th; OFC 9th"	""	""	""	""	""	""	""	""	""	""
"0000042913"	"02534"	"00056283"	"01482"	"Familial, autosomal dominant"	"08y"	"Eyebrow lateral flare\r\nLong eyelashes\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nWide nasal bridge\r\nBroad nasal tip\r\nCupid’s bow, exaggerated\r\nTapering fingers\r\n2-3 toe syndactyly\r\nLong hallux\r\nSlim and muscular build\r\nSacral dimple\r\nConstipation\r\nFeeding difficulties\r\nNasogastric and percutaneous endoscopic gastrostomy feeding\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nDevelopmental delay\r\nIntellectual disability\r\nAutism\r\nPoor sleep\r\nShort stature\r\nPostnatal growth retardation\r\nIntrauterine growth retardation\r\nMicrocephaly"	""	"weight 2nd-9th"	"weight <0.4th, heigth <0.4th, OFC <0.4th"	""	""	""	""	""	""	""	""	""	""
"0000042914"	"02534"	"00056284"	"01482"	"Familial, autosomal dominant"	"12y"	"Thick eyebrows\r\nLong eyelashes\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nWide nasal bridge\r\nBroad nasal tip\r\nCupid’s bow, exaggerated\r\nRib anomalies\r\nSacral dimple\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nHypertrichosis, lower limbs\r\nDevelopmental delay\r\nIntellectual disability\r\nAggressive behavior\r\nPostnatal growth retardation\r\nIntrauterine growth retardation"	""	"weight 0.4th-2nd"	"weight 25th, heigth 9th, OFC 50th"	""	""	""	""	""	""	""	""	""	""
"0000042915"	"02534"	"00056286"	"01482"	"Familial, autosomal dominant"	"08y"	"Thick eyebrows\r\nLong eyelashes\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nWide nasal bridge\r\nBroad nasal tip\r\nCupid’s bow, exaggerated\r\nBroad first digits\r\nTapering fingers\r\n2-3 toe syndactyly\r\nLong hallux\r\nSlim and muscular build\r\nRib anomalies\r\nConstipation\r\nFeeding difficulties\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nDevelopmental delay\r\nIntellectual disability\r\nAggressive behavior\r\nPostnatal growth retardation\r\nIntrauterine growth retardation\r\nMicrocephaly"	""	"weight 9th"	"weight 2nd, heigth 9th, OFC <2nd"	""	""	""	""	""	""	""	""	""	""
"0000042916"	"02534"	"00056289"	"01482"	"Familial, autosomal dominant"	"24y"	"Thick eyebrows\r\nLong eyelashes\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nWide nasal bridge\r\nBroad nasal tip\r\nUpper vermillion border, thin\r\nTapering fingers\r\nScoliosis\r\nSacral dimple\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nHypertrichosis, lower limbs\r\nDevelopmental delay\r\nIntellectual disability\r\nPatent ductus arteriosus\r\nShort stature"	""	"weight 25th-50th"	"weight <25th, heigth 0.4th-2nd, OFC 50th"	""	""	""	""	""	""	""	""	""	""
"0000042917"	"02534"	"00056290"	"01482"	"Familial, autosomal dominant"	"00y20m"	"Thick hair\r\nThick eyebrows\r\nLong eyelashes\r\nShort palpebral fissures\r\nPalpebral fissures, downslanting\r\nHypertelorism\r\nStrabismus\r\nWide nasal bridge\r\nDepressed nasal bridge\r\nBulbous nose\r\nUpper vermillion border, thin\r\nAbnormal dentition\r\nTapering fingers\r\nClinodactyly\r\nSacral dimple\r\nFeeding difficulties\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nUrinary tract infections\r\nShort stature\r\nPostnatal growth retardation\r\nMicrocephaly"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042918"	"02534"	"00056291"	"01482"	"Familial, autosomal dominant"	"01y"	"Thick hair\r\nProminent forehead\r\nThick eyebrows\r\nLong eyelashes\r\nShort palpebral fissures\r\nPalpebral fissures, downslanting\r\nHypertelorism\r\nMicrophthalmia\r\nWide nasal bridge\r\nMicrognathia\r\nBroad first digits\r\nTapering fingers\r\n3–4 partial left-hand syndactyly\r\n2-3 toe syndactyly\r\nSacral dimple\r\nSmall hands and feet\r\npectus excavatum\r\nWide anterior fontanelle\r\nHypertrichosis, back\r\nLow hair line\r\nDevelopmental delay\r\nHypotonia\r\nShort stature\r\nPostnatal growth retardation\r\nIntrauterine growth retardation"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042919"	"02534"	"00056292"	"01482"	"Familial, autosomal dominant"	"04y03m"	"Thick hair\r\nProminent forehead\r\nThick eyebrows\r\nLong eyelashes\r\nPtosis\r\nHypertelorism\r\nSlightly low hanging columella\r\nSmall ears\r\nAbnormal dentition\r\nMicrognathia\r\nShort fifth finger\r\nMild fifth finger brachyclinodactyly\r\nRib anomalies\r\nCongenital hip dysplasia\r\nDoughy and redundant skin on her hands\r\nAdvanced Bone age\r\nFeeding difficulties\r\nNasogastric and percutaneous endoscopic gastrostomy feeding\r\nHypertrichosis\r\nHypertrichosis, back\r\nLow hair line\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nCNS malformation\r\nCardiac anomaly\r\nNormal TSH, T4, GH, IGF-1, IGFBP3, 17OHP, LH, E2 and T levels\r\nUreterocele\r\nUrinary tract infections\r\nGrade IV vesicoureteral reflux and a left ureterocele\r\nShort stature"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042920"	"02534"	"00056297"	"01482"	"Familial, autosomal dominant"	"07y06m"	"Intrauterine growth retardation\r\nPostnatal growth retardation\r\nShort palpebral fissures\r\nHypertelorism\r\nEpicanthus\r\nWide nasal bridge/broad nasal tip\r\nMicrognathia\r\nRib anomalies\r\nDelayed bone age\r\nConstipation\r\nLow hair line\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nAmbiguous genitalia\r\nDiscordance between gender and karyotype\r\nAbnormal gonadal development\r\nNormal TSH, T4, GH, LH, high FSH, E2, low T levels"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042921"	"02534"	"00056298"	"01482"	"Isolated (sporadic)"	"10y"	"Short stature\r\nIntrauterine growth retardation\r\nPostnatal growth retardation\r\nMicrocephaly\r\nThick hair\r\nThick eyebrows\r\nLong eyelashes\r\nPalpebral fissures, vertically narrow\r\nHypertelorism\r\nWide nasal bridge\r\nDeep set ears\r\nSmall ear canals\r\nUpper vermillion border, thin \r\nHigh-arched palate \r\nLong philtrum\r\nClinodactyly\r\nSmall hands and feet\r\nFeeding difficulties\r\nNasogastric and percutaneous endoscopic gastrostomy feeding\r\nHypertrichosis cubiti\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nPatent ductus arteriosus\r\nNormal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels\r\nSmall kidneys"	""	"weight 1932 (<10th), heigth 45(10–50th)"	""	""	""	""	""	""	""	""	""	""	""
"0000042922"	"02534"	"00056300"	"01482"	"Familial, autosomal dominant"	"10y"	"Short stature\r\nIntrauterine growth retardation\r\nPostnatal growth retardation\r\nMicrocephaly\r\nThick hair\r\nThick eyebrows\r\nSynophrys\r\nLong eyelashes\r\nPalpebral fissures, vertically narrow\r\nHypertelorism\r\nWide nasal bridge\r\nBulbous nose\r\nSmall ears\r\nDeep set ears\r\nSmall ear canals\r\nUpper vermillion border, thin \r\nHigh-arched palate \r\nLong philtrum\r\nClinodactyly\r\nSmall hands and feet\r\nNormal bone age\r\nFeeding difficulties\r\nNasogastric and percutaneous endoscopic gastrostomy feeding\r\nHypertrichosis cubiti\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nNormal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels\r\nSmall kidneys"	""	"weight 1932 (<10th), heigth 45 (10-50th)"	""	""	""	""	""	""	""	""	""	""	""
"0000042923"	"02534"	"00056303"	"01482"	"Isolated (sporadic)"	"03y"	"Intrauterine growth retardation\r\nShort stature\r\nNormal head circumference\r\nProminent forehead\r\nThick eyebrows\r\nArched eyebrows\r\nLong eyelashes\r\nLong palpebral fissures\r\nPalpebral fissures, downslanting\r\nPtosis\r\nEpicanthus\r\nEctropion of lateral third of lower eyelid\r\nStrabismus\r\nShort columella\r\nWide nasal bridge\r\nBroad nasal tip\r\nDepressed nasal tip\r\nProminent ear \r\nAuricular deformity\r\nCupid’s bow, exaggerated\r\nHigh-arched palate \r\nAbnormal dentition\r\nHypodontia\r\nMicrognathia\r\nBroad first digits\r\nShort fifth finger\r\nClinodactyly\r\nContracture of the distal interphalangeal joint \r\nHypertrichosis\r\nHypertrichosis, back\r\nHypertrichosis, lower limbs\r\nAbnormal dermatoglyphics\r\nProminent digit pads\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nCardiac anomaly"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042924"	"02534"	"00056305"	"01482"	"Familial, autosomal dominant"	"09y02m"	"Intrauterine growth retardation\r\nNormal head circumference\r\nShort stature\r\nThick hair\r\nProminent forehead\r\nThick eyebrows\r\nWide nasal bridge\r\nBroad nasal tip\r\nDepressed nasal tip\r\nUpper vermillion border, thin \r\nHigh-arched palate \r\nClinodactyly\r\nSacral dimple\r\nConstipation\r\nHypertrichosis\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nHypertrichosis, lower limbs\r\nLow hair line\r\nDevelopmental delay\r\nIntellectual disability\r\nPoor sleep"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042925"	"02534"	"00056306"	"01482"	"Isolated (sporadic)"	"04y05m"	"Microcephaly\r\nShort stature\r\nIntrauterine growth retardation\r\nEyebrow lateral flare\r\nThick eyebrows\r\nLong eyelashes\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nShort columella\r\nWide nasal bridge\r\nBroad nasal tip\r\nDepressed nasal tip\r\nUpper vermillion border, thin \r\nAbnormal dentition\r\nTapering fingers\r\n2-3 toe syndactyly\r\nClinodactyly\r\nContracture of the distal interphalangeal joint \r\nSlim and muscular build\r\nPuffy hand and foot\r\nJoint laxity\r\nConstipation\r\nFeeding difficulties\r\nNasogastric and percutaneous endoscopic gastrostomy feeding\r\nHypertrichosis\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nHypertrichosis, lower limbs\r\nLow hair line\r\nAbnormal dermatoglyphics\r\nProminent digit pads\r\nDevelopmental delay\r\nIntellectual disability\r\nHypotonia\r\nPoor sleep"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042926"	"02534"	"00056307"	"01482"	"Isolated (sporadic)"	"03y"	"Normal head circumference\r\nShort stature\r\nThick hair\r\nProminent forehead\r\nThick eyebrows\r\nArched eyebrows\r\nLong eyelashes\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nPtosis\r\nHypertelorism\r\nDeafness\r\nCupid’s bow, exaggerated\r\nUpper vermillion border, thin \r\nMicrognathia\r\nTapering fingers\r\nShort fifth finger\r\nSacral dimple\r\nPuffy hand and foot\r\nConstipation\r\nHypertrichosis\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nLow hair line\r\nDevelopmental delay\r\nIntellectual disability"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042927"	"02534"	"00056308"	"01482"	"Isolated (sporadic)"	"09y06m"	"Normal head circumference\r\nShort stature\r\nThick hair\r\nEyebrow lateral flare\r\nThick eyebrows\r\nArched eyebrows\r\nLong eyelashes\r\nLong palpebral fissures\r\nPalpebral fissures, downslanting\r\nPalpebral fissures, vertically narrow\r\nHypertelorism\r\nEpicanthus\r\nEctropion of lateral third of lower eyelid\r\nStrabismus\r\nWide nasal bridge\r\nDepressed nasal tip\r\nCupid’s bow, exaggerated\r\nUpper vermillion border, thin \r\nMicrognathia\r\nBroad first digits\r\nClinodactyly\r\nLong hallux\r\nSmall hands\r\nPuffy hands\r\nHypertrichosis\r\nHypertrichosis cubiti\r\nHypertrichosis, back\r\nHypertrichosis, lower limbs\r\nProminent digit pads\r\nDevelopmental delay\r\nIntellectual disability\r\nHyperactivity\r\nCNS malformation"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042928"	"02534"	"00056309"	"01482"	"Familial, autosomal dominant"	"01y09m"	"original diagnosis CDLS; intrauterine growth retardation\r\nMicrocephaly\r\nShort stature\r\nThick hair\r\nSynophrys\r\nArched eyebrows\r\nLong eyelashes\r\nShort palpebral fissures\r\nPalpebral fissures, downslanting\r\nHypertelorism\r\nEpicanthus\r\nStrabismus\r\nLow nasal bridge\r\nDysmorphic ears\r\nUpper vermillion border, thin \r\nHigh-arched palate \r\nLong philtrum\r\nWidely spaced teeth\r\nDownturned corners of the mouth\r\nMicrognathia\r\nBrachydactyly\r\nClinodactyly\r\nHypertrichosis\r\nLow hair line\r\nIntellectual disability\r\nNormal behavioral problems\r\nPatent ductus arteriosus"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042953"	"00198"	"00056297"	"00006"	"Unknown"	""	"46,XY sexual development (DSD), complete gonadal dysgenes"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000042995"	"02534"	"00056380"	"00006"	"Isolated (sporadic)"	"04y"	"initially diagnosed atypical Kabuki syndrome, unavailable for evaluation"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000050836"	"02534"	"00064037"	"01482"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000050837"	"02534"	"00064038"	"01482"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000059353"	"02534"	"00079629"	"01482"	"Familial, autosomal dominant"	"14y"	"Short stature;\r\nMicrocephaly;\r\nEyebrow, lateral flare -;\r\nHypertelorism;\r\nDownslanted palpebral fissures;\r\nVertically narrow palpebra fissures -;\r\nWide nasal bridge;\r\nBroad nasal tip -;\r\nLong philtrum -;\r\nThin upper lip;\r\nLow-set ears -;\r\nStrabismus;\r\nDolichocilia;\r\nThick hair;\r\nthick eyebrows;\r\nAbnormal dentition;\r\nHigh palate -;\r\nMicrognathia -;\r\nhypotonia;\r\nAdvanced bone age -;\r\nSmall hands and feet;\r\nFleshy hands/feet -;\r\nClinodactyly -;\r\nCongenital hip dysplasia;\r\nHypertrichosis cubiti;\r\nHypertrichosis, back;\r\nHypertrichosis, lower limbs;\r\nDevelopmental delay;\r\nIntellectual disability;\r\nAutism -;\r\nAggressive behavior;\r\nSeizure;\r\nHyperactivity -;\r\nCardiovascular anomalies -;\r\nKidney/ureter malformation -;\r\nFeeding difficulties;\r\nNasogastric and percutaneous endoscopic gastrostomy feeding;\r\nIntestine anomalies;\r\nImmunodeficiency;\r\nUrinary trait infection;\r\nRespiratory trait infection -;\r\nOtitis media -;\r\nCryptorchidism;\r\nConstipation;\r\nPoor sleep;\r\nBulbous nose;\r\nDepressed nasal bridge;"	""	"38 weeks’ gestation, birth weight 2,450 g (10–25th centiles), occipitofrontal circumference (OFC) of 33 cm (3rd to 10th centiles), and length of 49 cm (50th centile)."	"-6SD, -4SD, -6SD"	""	""	""	""	""	""	""	""	""	""
"0000059354"	"02534"	"00079630"	"01482"	"Familial, autosomal dominant"	"00y21m"	"short stature;\r\nSlim and muscular build;\r\nmicrocephaly;\r\nThick eyebrows -;\r\nPtosis;\r\nHypertelorism;\r\nEpicanthus;\r\nMicrophthalmia -;\r\nStrabismus;\r\nMicrognathia -;\r\nDeep set ears;\r\nProminent ear -;\r\nAuricular deformity -;\r\nHearing loss -;\r\nnormal hands and feet;\r\npectus excavatum;\r\nHypertrichosis, cubiti -;\r\nHypertrichosis, back;\r\nHypertrichosis, lower limbs -;\r\nDevelopmental delay;\r\nIntellectual disability;\r\nHypotonia;\r\nPoor sleep;\r\nFeeding difficulties -;\r\nCardiac anomaly -;"	""	"at term, birth weight 3.3 kg (50th centile)"	"weight 5.2 kg (far below the 0.4th centile) , head circumference of 46 cm (2nd centile)"	""	""	""	""	""	""	""	""	""	""
"0000059355"	"02534"	"00079631"	"01482"	"Familial, autosomal dominant"	""	"short stature；\r\nmicrocephaly；\r\nHypertelorism；\r\nflat nose;\r\nThin lips;\r\nshort neck;\r\nfull cheeks;\r\nSacral dimple;\r\nDevelopmental delay;\r\nIntellectual disability;\r\nFeeding difficulties;\r\nmegaloureter;\r\nabnormal midface;\r\ncone-shaped epiphysis of the phalanges of the hand;\r\nHP:0007441;"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000059356"	"02534"	"00079632"	"01482"	"Familial, autosomal dominant"	""	"HP:0000256;\r\nHP:0000750;\r\nHP:0001263;\r\nHP:0000581;\r\nHP:0001488;\r\nHP:0011039;\r\nHP:0010532;\r\nInappropriate sexual behavior;"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060442"	"02534"	"00080873"	"01758"	"Isolated (sporadic)"	"04y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"Wiedemann-Steiner syndrome"	""
"0000060476"	"02534"	"00080907"	"01758"	"Isolated (sporadic)"	""	"Wiedemann-Steiner syndrome  (OMIM:605130)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060585"	"02534"	"00081016"	"01758"	"Isolated (sporadic)"	""	"Wiedemann-Steiner syndrome (OMIM:605130)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000068527"	"02534"	"00089138"	"01839"	"-"	""	""	""	""	""	"05 years"	""	""	""	""	""	""	""	""	""
"0000083233"	"00139"	"00105338"	"00067"	"Isolated (sporadic)"	"11y"	"facial dysmorphy with falt face, narrow palpebral fissures, thick eyebrows, hypertelorism, strabismus, dysplastic ears, and hypertrichosis, and clinodactyly; severe intellectual disability (HP:0010864); moderate global developmental delay (HP:0011343); no speech (HP:0001344)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083234"	"00139"	"00105339"	"00067"	"Isolated (sporadic)"	"08y"	"facial dysmorphy with fat face, narrow palpebral fissures, hypertelorism, dysplatic ears, everted low lip, and hypertrichosis; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); poor speech (HP:0002465)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083236"	"00139"	"00105340"	"00067"	"Isolated (sporadic)"	"04y"	"facial dysmorphy and hypertrichosis; severe intellectual disability (HP:0010864); mild global developmental delay (HP:0011342); no speech (HP:0001344)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083237"	"00139"	"00105341"	"00067"	"Isolated (sporadic)"	"10y"	"facial dysmorphy, hypermetropia, thick gums, hypertrichosis; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); no speech (HP:0001344)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083306"	"00139"	"00105412"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083307"	"00139"	"00105413"	"00067"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083308"	"00139"	"00105414"	"00067"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083310"	"00139"	"00105415"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083311"	"00139"	"00105416"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083312"	"00139"	"00105417"	"00067"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083313"	"00139"	"00105418"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083314"	"00139"	"00105419"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083316"	"00139"	"00105420"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083317"	"00139"	"00105421"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083318"	"00139"	"00105422"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083319"	"00139"	"00105423"	"00067"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000087480"	"02534"	"00111395"	"00729"	"Isolated (sporadic)"	""	"Moderate ID, hypertelorism"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000127685"	"00198"	"00154953"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Short stature (HP:0004322); Microcephaly (HP:0000252); Renal agenesis (HP:0000104)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000127698"	"00198"	"00154966"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Seizures (HP:0001250); Blindness (HP:0000618)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000130000"	"00139"	"00165103"	"00067"	"Isolated (sporadic)"	"10y"	"hypotonia, microcephaly, plagiocephaly, facial dysmorphy with hypertelorism, blepharophimosis, scoliosis and hypertrichosis; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); speech delay (HP:0000750)"	""	""	""	"10y"	"neonatal birth weight <P3"	""	""	""	""	""	"Wiedeman-Steiner syndrome"	"Wiedeman-Steiner syndrome"	""
"0000144356"	"00139"	"00183670"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"intellectual disability"	""
"0000144367"	"00139"	"00183681"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"intellectual disability"	""
"0000155655"	"00198"	"00207871"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"resembling cCommon variable immunodeficiency (CVID)"	""
"0000159668"	"02534"	"00211186"	"03145"	"Isolated (sporadic)"	"07y"	"small palpebral fissures, ptosis, telecanthus, and epicanthus inversus ,thick eyebrows、hair and long philtrum、strabismus and amblyopia,low hairline,narrow high palate, abnormal and low-set ears, hypertrichosis back."	""	"The Chinese boy was 7 years old now, he was born at 36 weeks’ gestation  hypotonia was noted"	""	"07y"	""	""	""	""	""	""	"Wiedemann-Steiner syndrome"	"Wiedemann-Steiner syndrome"	""
"0000210191"	"00198"	"00275545"	"03112"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"Rubinstein-Taybi syndrome"	""
"0000210192"	"00198"	"00275547"	"03112"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"Rubinstein-Taybi syndrome"	""
"0000210193"	"00198"	"00275548"	"03112"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"Rubinstein-Taybi syndrome"	""
"0000210194"	"00198"	"00275549"	"03112"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"Rubinstein-Taybi syndrome"	""
"0000210195"	"00198"	"00275550"	"03112"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"Rubinstein-Taybi syndrome"	""
"0000210196"	"00198"	"00275551"	"03112"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"Rubinstein-Taybi syndrome"	""
"0000210292"	"02534"	"00275694"	"03555"	"Isolated (sporadic)"	"24y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210605"	"00198"	"00276049"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Short stature (HP:0004322); Microcephaly (HP:0000252); Hypertrichosis (HP:0000998)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000210863"	"02534"	"00276273"	"03555"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210864"	"02534"	"00276274"	"03555"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210865"	"02534"	"00276275"	"03555"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210866"	"02534"	"00276276"	"03555"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210867"	"02534"	"00276277"	"03555"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210868"	"02534"	"00276278"	"03555"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210869"	"02534"	"00276279"	"03555"	"Isolated (sporadic)"	"06y06m"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000210870"	"02534"	"00276280"	"03555"	"Isolated (sporadic)"	"13y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000221932"	"00198"	"00288195"	"00006"	"Isolated (sporadic)"	"4y"	"failure to thrive, microphthalmos, high palate, hypoplasia of midface, trigonocephaly, ankyloglossia, hypertelorism, ptosis, amblyopia, low-set ears, microtia, hirsutism, sacral dimple, accelerated skeletal maturation, clinodactyly, bowel incontinence, developmental delay, delayed speech and language development, hypotonia, encephalopathy, oral aversion, impaired social interactions, frontal bossing, protuberant abdomen, wide intermamillary distance"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000223392"	"00198"	"00295916"	"01164"	"Unknown"	""	"Hip dysplasia (HP:0001385); Microcephaly (HP:0000252); Neurogenic bladder (HP:0000011); Global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000228581"	"00198"	"00301403"	"01164"	"Unknown"	""	"Scoliosis (HP:0002650); Neurodevelopmental delay (HP:0012758); Flexion contracture (HP:0001371); Limb joint contracture (HP:0003121); Delayed speech and language development (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000230094"	"05521"	"00303011"	"00006"	"Isolated (sporadic)"	""	"Epileptic Encephalopathy, Infantile Spasms; age onset infantile"	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000230095"	"05521"	"00303012"	"00006"	"Isolated (sporadic)"	""	"epileptic encephalopathy, ESES, complex partial seizures; age onset childhood"	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000230096"	"05521"	"00303013"	"00006"	"Isolated (sporadic)"	""	"Unclassified epilepsy; age onset infantile"	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000230174"	"03237"	"00303090"	"00006"	"-"	""	"7m-vomiting, bruising, pallor"	""	""	""	""	""	""	""	""	""	""	""	"acute lymphoid leukemia"	""
"0000231023"	"00198"	"00303963"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Short stature (HP:0004322)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000232097"	"00198"	"00306251"	"01807"	"Unknown"	""	"Ptosis (HP:0000508); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Short stature (HP:0004322); Epicanthus (HP:0000286); Motor delay (HP:0001270)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000233246"	"00198"	"00307686"	"01164"	"Unknown"	""	"Hyperactivity (HP:0000752); Mild global developmental delay (HP:0011342)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236702"	"00198"	"00311456"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236703"	"00198"	"00311457"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236704"	"00198"	"00311458"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236705"	"00198"	"00311459"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236706"	"00198"	"00311460"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236707"	"00198"	"00311461"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236708"	"00198"	"00311462"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236709"	"00198"	"00311463"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236710"	"00198"	"00311464"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236711"	"00198"	"00311465"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236712"	"00198"	"00311466"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236713"	"00198"	"00311467"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236714"	"00198"	"00311468"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236715"	"00198"	"00311469"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236716"	"00198"	"00311470"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236717"	"00198"	"00311471"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236718"	"00198"	"00311472"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236719"	"00198"	"00311473"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236720"	"00198"	"00311474"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236721"	"00198"	"00311475"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236755"	"00198"	"00311509"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236756"	"00198"	"00311510"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236757"	"00198"	"00311511"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236758"	"00198"	"00311512"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000238761"	"00198"	"00315009"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"Wiedemann-Steiner syndrome"	"chromatinopathy"	""
"0000238780"	"00198"	"00315028"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"Kabuki syndrome"	"chromatinopathy"	""
"0000242215"	"00198"	"00320169"	"01807"	"Unknown"	""	"Facial hypotonia (HP:0000297); Ptosis (HP:0000508); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Obesity (HP:0001513); Poor motor coordination (HP:0002275); Tapering pointed ends of distal finger phalanges (HP:0006224); Arnold-Chiari type I malformation (HP:0007099)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000244359"	"04281"	"00325872"	"01164"	"Unknown"	"04y"	"delayed speech and language development, cafe-au-lait spot, abnormal digit morphology, localized skin lesion, neurodevelopmental delay, clinodactyly"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000244667"	"02534"	"00326206"	"01164"	"Unknown"	""	"(+) Abnormality of body height,(+) Abnormality of the head,(+) Microcephaly,(+) Abnormality of the face,(+) Motor delay,(+) Growth delay,(+) Abnormal facial shape,(+) Delayed gross motor development,(+) Short stature,(+) Aplasia/Hypoplasia of the cerebrum,(+) Neurodevelopmental delay,(+) Decreased head circumference"	""	""	""	""	""	""	""	""	""	""	""	"2y"	""
"0000256997"	"00139"	"00361592"	"00006"	"Isolated (sporadic)"	"14y"	"syndromic; intellectual disability and dysmorphism"	""	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000274078"	"02534"	"00380227"	"01164"	"Isolated (sporadic)"	"04y"	"Global developmental delay, Delayed speech and language development, Autistic behavior, Ureteropelvic junction obstruction, Abnormality of the philtrum, Thin upper lip vermilion"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000274673"	"02534"	"00380820"	"00000"	"Familial"	""	"DD; ID; Short stature (Neurological)"	""	""	""	""	""	""	""	""	""	""	"Wiedeman Steiner disease"	""	""
"0000302133"	"02534"	"00410025"	"03555"	"Isolated (sporadic)"	"18y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""
"0000328218"	"04270"	"00438314"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures; HP:0001263 global developmental delay; HP:0003265 neonatal hyperbilirubinemia; HP:0001998 neonatal hypoglycemia; HP:0001298 encephalopathy; HP:0001643 patent ductus arteriosus; HP:0012469 infantile spasms; HP:0002342 intellectual disability, moderate; HP:0002333 motor deterioration; HP:0200134 epileptic encephalopathy; HP:0001601 laryngomalacia; HP:0012448 delayed myelination; HP:0001655 patent foramen ovale"	"2y"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000330272"	"00198"	"00440362"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"Wiedemann-Steiner syndrome (MIM #605130)"	""	""
"0000330325"	"00198"	"00440415"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"Wiedemann-Steiner syndrome (MIM #605130)"	""	""
"0000330336"	"00198"	"00440426"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"Wiedemann-Steiner syndrome (MIM #605130)"	""	""
"0000333159"	"02534"	"00443882"	"01164"	"Isolated (sporadic)"	"01y"	"Astigmatism, Hypotonia, Global developmental delay, Motor delay, Plagiocephaly, Constipation, Short stature, Lateral ventricle dilatation"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000337423"	"00198"	"00448213"	"00006"	"Isolated (sporadic)"	"6y"	"intellectual disability; laryngomalacia; short stature; ventricular septal defect"	""	""	""	""	""	""	""	""	""	""	""	"rare disorder"	""
"0000337435"	"02534"	"00448225"	"01164"	"Isolated (sporadic)"	"18y"	"Short stature, Seizure, EEG abnormality, Intellectual disability, severe, Hypertrichosis, Midface retrusion, Hypertelorism, Poor speech"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000337999"	"00198"	"00448824"	"04169"	"Isolated (sporadic)"	"05y"	"Delayed psychomotor development (HP:0001263)\r\nAbsent speech (HP:0001344)\r\nIntellectual disability (HP:0001249)\r\nDysmorphic facial features (HP:0001999)\r\nAutism Spectrum Disorder (HP:0000729)"	""	""	""	"06y"	""	""	""	""	""	""	"Wiedemann-Steiner syndrome"	"Neurodevelopmental disorder"	""
"0000338865"	"02534"	"00449694"	"01164"	"Isolated (sporadic)"	""	"Delayed speech and language development, Abnormality of the face, Thick eyebrows, Neurodevelopmental abnormality, Abnormal cardiac septum morphology, Recurrent respiratory infections, Coarctation of aorta"	"25y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000338989"	"00198"	"00449842"	"03544"	"Isolated (sporadic)"	""	"HP:0004322, HP:0001511"	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"short stature"	""
"0000344502"	"02534"	"00455982"	"01164"	"Isolated (sporadic)"	"02y"	"Microcephaly, Brachydactyly, Short stature, Atrial septal defect"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346367"	"05611"	"00457917"	"03544"	"Isolated (sporadic)"	""	"HP:0004322, HP:0000252, HP:0002342, HP:0000271"	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"complex neurodevelopmental disorder"	""
"0000346371"	"05611"	"00457921"	"03544"	"Isolated (sporadic)"	""	"HP:0000717, HP:0000750, HP:0007018"	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"neurodevelopmental disorder"	""
"0000346542"	"05611"	"00458095"	"03544"	"Isolated (sporadic)"	""	"HP:0000252, HP:0001263, HP:0000750, HP:0001510, HP:0008780"	""	""	""	""	""	""	""	""	""	""	"WDSTS"	"complex neurodevelopmental disorder"	""
"0000346555"	"00198"	"00458110"	"03544"	"Isolated (sporadic)"	""	"HP:0000271, HP:0003498, HP:0001249"	""	""	""	""	""	""	""	""	""	""	"WDSTS"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 135
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050321"	"00050376"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050408"	"00050463"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050575"	"00050630"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050605"	"00050660"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050631"	"00050686"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000056232"	"00056281"	"1"	"01482"	"01482"	"2015-12-09 13:29:10"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000056234"	"00056283"	"1"	"01482"	"01482"	"2015-12-09 13:51:50"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056236"	"00056284"	"1"	"01482"	"01482"	"2015-12-09 14:03:51"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056238"	"00056286"	"1"	"01482"	"01482"	"2015-12-09 14:11:39"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056240"	"00056289"	"1"	"01482"	"01482"	"2015-12-09 14:18:42"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056241"	"00056290"	"1"	"01482"	"01482"	"2015-12-09 14:34:06"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056242"	"00056291"	"1"	"01482"	"01482"	"2015-12-09 14:42:01"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056245"	"00056292"	"1"	"01482"	"01482"	"2015-12-09 14:54:37"	""	""	"arrayCGH"	"DNA"	""	""
"0000056248"	"00056297"	"1"	"01482"	"01482"	"2015-12-09 15:04:31"	"00006"	"2015-12-11 12:57:47"	"SEQ-NG"	"DNA"	""	""
"0000056250"	"00056298"	"1"	"01482"	"01482"	"2015-12-09 15:13:51"	""	""	"SEQ-NG"	"DNA"	""	""
"0000056252"	"00056300"	"1"	"01482"	"01482"	"2015-12-09 15:21:12"	""	""	"SEQ-NG"	"DNA"	""	""
"0000056254"	"00056303"	"1"	"01482"	"01482"	"2015-12-09 15:29:35"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056256"	"00056305"	"1"	"01482"	"01482"	"2015-12-09 15:36:30"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056257"	"00056306"	"1"	"01482"	"01482"	"2015-12-09 15:43:06"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056258"	"00056307"	"1"	"01482"	"01482"	"2015-12-09 15:49:10"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056259"	"00056308"	"1"	"01482"	"01482"	"2015-12-09 15:55:50"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000056260"	"00056309"	"1"	"01482"	"01482"	"2015-12-09 16:03:30"	""	""	"SEQ-NG"	"DNA"	""	""
"0000056335"	"00056380"	"1"	"00006"	"00006"	"2015-12-13 03:30:48"	"00006"	"2015-12-13 03:42:51"	"SEQ-NG"	"DNA"	""	""
"0000064169"	"00064037"	"1"	"01482"	"01482"	"2016-04-20 11:36:43"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000064170"	"00064038"	"1"	"01482"	"01482"	"2016-04-20 12:01:58"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000079703"	"00079629"	"1"	"01482"	"01482"	"2016-08-15 18:09:32"	""	""	"SEQ-NG"	"DNA"	""	""
"0000079704"	"00079630"	"1"	"01482"	"01482"	"2016-08-15 18:24:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000079705"	"00079631"	"1"	"01482"	"01482"	"2016-08-15 18:34:25"	""	""	"SEQ-NG"	"DNA"	""	""
"0000079706"	"00079632"	"1"	"01482"	"01482"	"2016-08-15 18:40:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000080985"	"00080873"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081019"	"00080907"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081128"	"00081016"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000089285"	"00089138"	"1"	"01839"	"01839"	"2016-11-29 23:01:21"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000105810"	"00105338"	"1"	"00067"	"00067"	"2017-06-21 18:14:10"	""	""	"SEQ"	"DNA"	""	""
"0000105811"	"00105339"	"1"	"00067"	"00067"	"2017-06-21 18:33:55"	""	""	"SEQ"	"DNA"	""	""
"0000105812"	"00105340"	"1"	"00067"	"00067"	"2017-06-21 18:48:50"	""	""	"SEQ"	"DNA"	""	""
"0000105813"	"00105341"	"1"	"00067"	"00067"	"2017-06-21 18:53:34"	""	""	"SEQ"	"DNA"	""	""
"0000105883"	"00105412"	"1"	"00067"	"00067"	"2017-06-24 10:37:08"	""	""	"SEQ"	"DNA"	""	""
"0000105884"	"00105413"	"1"	"00067"	"00067"	"2017-06-24 10:41:29"	""	""	"SEQ"	"DNA"	""	""
"0000105885"	"00105414"	"1"	"00067"	"00067"	"2017-06-24 10:46:21"	""	""	"SEQ"	"DNA"	""	""
"0000105886"	"00105415"	"1"	"00067"	"00067"	"2017-06-24 10:51:07"	""	""	"SEQ"	"DNA"	""	""
"0000105887"	"00105416"	"1"	"00067"	"00067"	"2017-06-24 10:55:43"	""	""	"SEQ"	"DNA"	""	""
"0000105888"	"00105417"	"1"	"00067"	"00067"	"2017-06-24 10:59:27"	""	""	"SEQ"	"DNA"	""	""
"0000105889"	"00105418"	"1"	"00067"	"00067"	"2017-06-24 11:03:19"	""	""	"SEQ"	"DNA"	""	""
"0000105890"	"00105419"	"1"	"00067"	"00067"	"2017-06-24 11:07:21"	""	""	"SEQ"	"DNA"	""	""
"0000105891"	"00105420"	"1"	"00067"	"00067"	"2017-06-24 11:10:17"	""	""	"SEQ"	"DNA"	""	""
"0000105892"	"00105421"	"1"	"00067"	"00067"	"2017-06-24 11:13:47"	""	""	"SEQ"	"DNA"	""	""
"0000105893"	"00105422"	"1"	"00067"	"00067"	"2017-06-24 11:17:58"	""	""	"SEQ"	"DNA"	""	""
"0000105894"	"00105423"	"1"	"00067"	"00067"	"2017-06-24 11:21:00"	""	""	"SEQ"	"DNA"	""	""
"0000111860"	"00111395"	"1"	"00729"	"00729"	"2017-08-03 00:52:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000155814"	"00154953"	"0"	"01807"	"01807"	"2018-03-07 03:58:28"	""	""	"SEQ"	"DNA"	""	""
"0000155829"	"00154966"	"0"	"01807"	"01807"	"2018-03-07 04:17:42"	""	""	"SEQ"	"DNA"	""	""
"0000165978"	"00165103"	"1"	"00067"	"00067"	"2018-06-06 13:47:02"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000184638"	"00183670"	"1"	"00006"	"00006"	"2018-10-27 10:06:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"1256 gene panel"
"0000184649"	"00183681"	"1"	"00006"	"00006"	"2018-10-27 10:06:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"1256 gene panel"
"0000208387"	"00207351"	"1"	"03112"	"03112"	"2018-11-20 11:00:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208913"	"00207871"	"1"	"00006"	"00006"	"2018-12-02 15:41:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000212262"	"00211186"	"1"	"03145"	"03145"	"2019-01-03 09:47:45"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000274320"	"00273166"	"1"	"02061"	"02061"	"2019-12-20 17:22:58"	""	""	"SEQ-NG-IT"	"DNA"	""	"WES"
"0000276705"	"00275545"	"1"	"03112"	"03112"	"2020-01-07 15:34:47"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000276706"	"00275547"	"1"	"03112"	"03112"	"2020-01-07 15:42:01"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000276707"	"00275548"	"1"	"03112"	"03112"	"2020-01-07 15:47:11"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000276708"	"00275549"	"1"	"03112"	"03112"	"2020-01-07 15:50:08"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000276709"	"00275550"	"1"	"03112"	"03112"	"2020-01-07 15:52:46"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000276710"	"00275551"	"1"	"03112"	"03112"	"2020-01-07 15:55:38"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000276848"	"00275694"	"1"	"03555"	"03555"	"2020-01-17 15:58:14"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000277196"	"00276049"	"1"	"01807"	"01807"	"2020-01-24 11:02:57"	""	""	"SEQ"	"DNA"	""	""
"0000277420"	"00276273"	"1"	"03555"	"03555"	"2020-01-29 13:23:27"	"03555"	"2020-01-29 14:18:54"	"SEQ-NG"	"DNA"	""	"WES"
"0000277421"	"00276274"	"1"	"03555"	"03555"	"2020-01-29 13:31:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000277422"	"00276275"	"1"	"03555"	"03555"	"2020-01-29 13:37:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS, filtered for ID-associated regions"
"0000277423"	"00276276"	"1"	"03555"	"03555"	"2020-01-29 13:41:23"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000277424"	"00276277"	"1"	"03555"	"03555"	"2020-01-29 13:46:25"	""	""	"SEQ"	"DNA"	""	""
"0000277425"	"00276278"	"1"	"03555"	"03555"	"2020-01-29 13:56:32"	""	""	"SEQ-NG-I"	"DNA"	""	"WES, filtered for neurodevelopmental disorders (1500 genes)"
"0000277426"	"00276279"	"1"	"03555"	"03555"	"2020-01-29 14:03:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000277427"	"00276280"	"1"	"03555"	"03555"	"2020-01-29 14:13:43"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000289364"	"00288195"	"1"	"00006"	"00006"	"2020-02-16 14:03:09"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"fibroblast"	"WES"
"0000291423"	"00290255"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297088"	"00295916"	"1"	"01164"	"01164"	"2020-03-30 10:44:00"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000302524"	"00301403"	"1"	"01164"	"01164"	"2020-05-15 11:30:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000304136"	"00303011"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304137"	"00303012"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304138"	"00303013"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304215"	"00303090"	"1"	"00006"	"00006"	"2020-06-05 19:38:33"	""	""	"microscope;PCRlr;SEQ"	"DNA"	""	""
"0000305092"	"00303963"	"1"	"01807"	"01807"	"2020-06-22 08:46:01"	""	""	"SEQ"	"DNA"	""	""
"0000307387"	"00306251"	"1"	"01807"	"01807"	"2020-07-13 13:21:01"	""	""	"SEQ"	"DNA"	""	""
"0000308826"	"00307686"	"1"	"01164"	"01164"	"2020-08-18 12:51:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000312626"	"00311456"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312627"	"00311457"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312628"	"00311458"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312629"	"00311459"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312630"	"00311460"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312631"	"00311461"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312632"	"00311462"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312633"	"00311463"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312634"	"00311464"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312635"	"00311465"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312636"	"00311466"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312637"	"00311467"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312638"	"00311468"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312639"	"00311469"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312640"	"00311470"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312641"	"00311471"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312642"	"00311472"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312643"	"00311473"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312644"	"00311474"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312645"	"00311475"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312679"	"00311509"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312680"	"00311510"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312681"	"00311511"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000312682"	"00311512"	"1"	"00006"	"00006"	"2020-09-25 14:39:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000316185"	"00315009"	"1"	"00006"	"00006"	"2020-10-24 17:31:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"68-gene panel"
"0000316204"	"00315028"	"1"	"00006"	"00006"	"2020-10-24 17:31:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"68-gene panel"
"0000321354"	"00320169"	"1"	"01807"	"01807"	"2020-11-23 17:42:01"	""	""	"SEQ"	"DNA"	""	""
"0000327082"	"00325872"	"1"	"01164"	"01164"	"2021-01-04 14:51:40"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000327420"	"00326206"	"1"	"01164"	"01164"	"2021-01-11 09:28:16"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000362820"	"00361592"	"1"	"00006"	"00006"	"2021-04-07 19:07:03"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000381440"	"00380227"	"1"	"01164"	"01164"	"2021-08-13 11:02:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000382034"	"00380820"	"1"	"00000"	"03840"	"2021-08-23 12:15:23"	""	""	"SEQ-NG-I"	"DNA"	""	"whole exome sequencing"
"0000411287"	"00410025"	"1"	"03555"	"00006"	"2022-05-18 09:31:20"	"00006"	"2022-05-18 11:04:59"	"SEQ"	"DNA"	""	""
"0000439796"	"00438314"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441847"	"00440362"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441900"	"00440415"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441911"	"00440426"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000445379"	"00443882"	"1"	"01164"	"01164"	"2023-12-05 12:30:14"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000449788"	"00448213"	"1"	"00006"	"00006"	"2024-02-22 17:47:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000449800"	"00448225"	"1"	"01164"	"01164"	"2024-02-23 12:19:50"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000450415"	"00448824"	"1"	"04169"	"04169"	"2024-04-17 15:21:35"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000451285"	"00449694"	"1"	"01164"	"01164"	"2024-05-02 13:37:26"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000451438"	"00449842"	"1"	"03544"	"03544"	"2024-05-17 08:15:41"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000457598"	"00455982"	"1"	"01164"	"01164"	"2024-10-22 11:39:29"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000459537"	"00457917"	"1"	"03544"	"03544"	"2024-11-21 11:17:35"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000459541"	"00457921"	"1"	"03544"	"03544"	"2024-11-21 13:35:52"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000459713"	"00458095"	"1"	"03544"	"03544"	"2024-11-29 09:43:34"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000459728"	"00458110"	"1"	"03544"	"03544"	"2024-12-02 13:45:06"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"
"0000462585"	"00460953"	"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 = 108
"{{screeningid}}"	"{{geneid}}"
"0000050321"	"KMT2A"
"0000050408"	"KMT2A"
"0000050575"	"KMT2A"
"0000050605"	"KMT2A"
"0000050631"	"KMT2A"
"0000056232"	"KMT2A"
"0000056234"	"KMT2A"
"0000056236"	"KMT2A"
"0000056238"	"KMT2A"
"0000056240"	"KMT2A"
"0000056241"	"KMT2A"
"0000056242"	"KMT2A"
"0000056245"	"KMT2A"
"0000056248"	"KMT2A"
"0000056248"	"NRROS"
"0000056248"	"ZNF674"
"0000056250"	"KMT2A"
"0000056252"	"KMT2A"
"0000056254"	"KMT2A"
"0000056256"	"KMT2A"
"0000056257"	"KMT2A"
"0000056258"	"KMT2A"
"0000056259"	"KMT2A"
"0000056260"	"KMT2A"
"0000056335"	"KMT2A"
"0000064169"	"KMT2A"
"0000064170"	"KMT2A"
"0000079703"	"KMT2A"
"0000079704"	"KMT2A"
"0000079705"	"KMT2A"
"0000079706"	"KMT2A"
"0000080985"	"KMT2A"
"0000081019"	"KMT2A"
"0000081128"	"KMT2A"
"0000089285"	"KMT2A"
"0000105810"	"KMT2A"
"0000105811"	"KMT2A"
"0000105812"	"KMT2A"
"0000105813"	"KMT2A"
"0000105883"	"KMT2A"
"0000105884"	"KMT2A"
"0000105885"	"KMT2A"
"0000105886"	"KMT2A"
"0000105887"	"KMT2A"
"0000105888"	"KMT2A"
"0000105889"	"KMT2A"
"0000105890"	"KMT2A"
"0000105891"	"KMT2A"
"0000105892"	"KMT2A"
"0000105893"	"KMT2A"
"0000105894"	"KMT2A"
"0000111860"	"KMT2A"
"0000165978"	"KMT2A"
"0000184638"	"KMT2A"
"0000184649"	"KMT2A"
"0000208387"	"KMT2A"
"0000208913"	"KMT2A"
"0000212262"	"KMT2A"
"0000276705"	"KMT2A"
"0000276706"	"KMT2A"
"0000276707"	"KMT2A"
"0000276708"	"KMT2A"
"0000276709"	"KMT2A"
"0000276710"	"KMT2A"
"0000277424"	"KMT2A"
"0000289364"	"KMT2A"
"0000304136"	"KMT2A"
"0000304137"	"KMT2A"
"0000304138"	"KMT2A"
"0000304215"	"KMT2A"
"0000304215"	"WDR45"
"0000312626"	"KMT2A"
"0000312627"	"KMT2A"
"0000312628"	"KMT2A"
"0000312629"	"KMT2A"
"0000312630"	"KMT2A"
"0000312631"	"KMT2A"
"0000312632"	"KMT2A"
"0000312633"	"KMT2A"
"0000312634"	"KMT2A"
"0000312635"	"KMT2A"
"0000312636"	"KMT2A"
"0000312637"	"KMT2A"
"0000312638"	"KMT2A"
"0000312639"	"KMT2A"
"0000312640"	"KMT2A"
"0000312641"	"KMT2A"
"0000312642"	"KMT2A"
"0000312643"	"KMT2A"
"0000312644"	"KMT2A"
"0000312645"	"KMT2A"
"0000312679"	"KMT2A"
"0000312680"	"KMT2A"
"0000312681"	"KMT2A"
"0000312682"	"KMT2A"
"0000316185"	"KMT2A"
"0000316204"	"KMT2A"
"0000327082"	"KMT2A"
"0000327420"	"KMT2A"
"0000362820"	"KMT2A"
"0000381440"	"KMT2A"
"0000411287"	"KMT2A"
"0000445379"	"KMT2A"
"0000449800"	"KMT2A"
"0000450415"	"KMT2A"
"0000451285"	"KMT2A"
"0000457598"	"KMT2A"
"0000462585"	"KMT2A"


## 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 = 433
"{{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}}"
"0000079301"	"0"	"90"	"11"	"118344533"	"118344533"	"subst"	"0"	"00006"	"KMT2A_000001"	"g.118344533G>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118473818G>T"	""	"pathogenic (dominant)"	""
"0000079388"	"0"	"90"	"11"	"118373178"	"118373178"	"subst"	"0"	"00006"	"KMT2A_000003"	"g.118373178C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118502463C>T"	""	"pathogenic (dominant)"	""
"0000079555"	"0"	"90"	"11"	"118376964"	"118376964"	"dup"	"0"	"00006"	"KMT2A_000004"	"g.118376964dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135},{PMID:Faundes 2018:29276005}"	""	"10357_10358insT"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000079693"	"0"	"90"	"11"	"118344000"	"118344001"	"del"	"0"	"00006"	"KMT2A_000005"	"g.118344000_118344001del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}"	""	"2126_2127delCT"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000079698"	"0"	"90"	"11"	"118354782"	"118362888"	"del"	"0"	"00006"	"KMT2A_000002"	"g.118354782_118362888del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	"g.118484067_118492173del"	""	"pathogenic (recessive)"	""
"0000086465"	"0"	"70"	"11"	"118375413"	"118375416"	"del"	"0"	"01482"	"KMT2A_000006"	"g.118375413_118375416del"	"1/6 cases"	"{PMID:Jones 2012:22795537}, {OMIM159555:0001}"	""	"8806_8809delGTCT"	""	"De novo"	""	"rs398122878"	"0"	""	""	"g.118504698_118504701del"	""	"likely pathogenic"	""
"0000086467"	"0"	"70"	"11"	"118374874"	"118374874"	"del"	"0"	"01482"	"KMT2A_000008"	"g.118374874del"	"1/6 cases"	"{PMID:Jones 2012:22795537}, {OMIM159555:0002}"	""	""	""	"De novo"	""	"rs398122879"	"0"	""	""	"g.118504159del"	""	"likely pathogenic"	""
"0000086469"	"0"	"70"	"11"	"118373520"	"118373520"	"del"	"0"	"01482"	"KMT2A_000009"	"g.118373520del"	"1/6 cases"	"{PMID:Jones 2012:22795537}, {OMIM159555:0003}"	""	"6913delT"	""	"De novo"	""	"rs398122880"	"0"	""	""	"g.118502805del"	""	"likely pathogenic"	""
"0000086471"	"0"	"70"	"11"	"118373751"	"118373751"	"subst"	"0"	"01482"	"KMT2A_000010"	"g.118373751C>T"	"1/6 cases"	"{PMID:Jones 2012:22795537}, {OMIM159555:0004}"	""	""	""	"De novo"	""	"rs387907275"	"0"	""	""	"g.118503036C>T"	""	"likely pathogenic"	""
"0000086472"	"0"	"70"	"11"	"118360867"	"118360867"	"dup"	"0"	"01482"	"KMT2A_000007"	"g.118360867dup"	"1/6 cases"	"{PMID:Jones 2012:22795537}, {OMIM159555:0005}"	""	""	""	"De novo"	""	"rs398122881"	"0"	""	""	"g.118490152dup"	""	"likely pathogenic"	""
"0000086473"	"0"	"70"	"11"	"118359338"	"118359338"	"subst"	"0"	"01482"	"KMT2A_000011"	"g.118359338T>C"	""	"{PMID:Strom 2014:24886118}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118488623T>C"	""	"likely pathogenic"	""
"0000086474"	"0"	"90"	"11"	"118353211"	"118353211"	"subst"	"0"	"01482"	"KMT2A_000012"	"g.118353211G>A"	""	"{PMID:Strom 2014:24886118}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118482496G>A"	""	"pathogenic"	""
"0000086479"	"0"	"90"	"11"	"118307660"	"118339489"	""	"0"	"01482"	"KMT2A_000013"	"g.(118307660_118339489)_(11835569_118359328)del"	""	"{PMID:Mendelsohn 2014:24818805}"	""	"ex 2-10 deletion"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000086481"	"0"	"90"	"11"	"118372446"	"118372446"	"subst"	"0"	"01482"	"KMT2A_000014"	"g.118372446C>T"	""	"{PMID:Calvel 2015:26544196}"	""	""	"associated with WDSTS phenotype"	"De novo"	""	""	"0"	""	""	"g.118501731C>T"	""	"pathogenic"	""
"0000086483"	"0"	"90"	"11"	"118347610"	"118347610"	"subst"	"0"	"01482"	"KMT2A_000015"	"g.118347610C>T"	""	"{PMID:Dunkerton 2015:25929198}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118476895C>T"	""	"pathogenic"	""
"0000086485"	"0"	"90"	"11"	"118347610"	"118347610"	"subst"	"0"	"01482"	"KMT2A_000015"	"g.118347610C>T"	""	"{PMID:Dunkerton 2015:25929198}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118476895C>T"	""	"pathogenic"	""
"0000086487"	"0"	"70"	"11"	"118374045"	"118374045"	"subst"	"0"	"01482"	"KMT2A_000016"	"g.118374045C>T"	""	"{PMID:Miyake 2015:25810209}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118503330C>T"	""	"likely pathogenic"	""
"0000086488"	"0"	"70"	"11"	"118373388"	"118373388"	"subst"	"0"	"01482"	"KMT2A_000017"	"g.118373388C>T"	""	"{PMID:Miyake 2015:25810209}"	""	""	"variant not in mother, father not tested"	"Unknown"	""	""	"0"	""	""	"g.118502673C>T"	""	"likely pathogenic"	""
"0000086490"	"0"	"70"	"11"	"118348913"	"118348913"	"subst"	"0"	"01482"	"KMT2A_000018"	"g.118348913G>A"	""	"{PMID:Miyake 2015:25810209}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118478198G>A"	""	"likely pathogenic"	""
"0000086491"	"0"	"70"	"11"	"118342912"	"118342912"	"del"	"0"	"01482"	"KMT2A_000019"	"g.118342912del"	""	"{PMID:Miyake 2015:25810209}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118472197del"	""	"likely pathogenic"	""
"0000086492"	"0"	"70"	"11"	"118344022"	"118344022"	"del"	"0"	"01482"	"KMT2A_000020"	"g.118344022del"	""	"{PMID:Miyake 2015:25810209}"	""	"2148delC"	""	"De novo"	""	""	"0"	""	""	"g.118473307del"	""	"likely pathogenic"	""
"0000086493"	"0"	"70"	"11"	"118344107"	"118344107"	"subst"	"0"	"01482"	"KMT2A_000021"	"g.118344107C>T"	""	"{PMID:Yuan 2015:25574841}"	""	"C2233T"	""	"De novo"	""	""	"0"	""	""	"g.118473392C>T"	""	"likely pathogenic"	""
"0000086574"	"0"	"70"	"11"	"118342712"	"118342712"	"subst"	"0"	"00006"	"KMT2A_000022"	"g.118342712C>A"	""	"{PMID:Miyake 2015:25810209}"	""	""	"parents not available for analysis"	"Unknown"	""	""	"0"	""	""	"g.118471997C>A"	""	"likely pathogenic"	""
"0000095138"	"0"	"50"	"11"	"118375014"	"118375014"	"subst"	"0"	"01482"	"KMT2A_000023"	"g.118375014C>T"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.118504299C>T"	""	"VUS"	""
"0000095139"	"0"	"50"	"11"	"118344329"	"118344329"	"subst"	"0"	"01482"	"KMT2A_000024"	"g.118344329C>T"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.118473614C>T"	""	"VUS"	""
"0000128477"	"0"	"70"	"11"	"118348828"	"118348828"	"subst"	"0"	"01482"	"KMT2A_000026"	"g.118348828T>G"	""	"{PMID:Stellacci 2016:27320412}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118478113T>G"	""	"likely pathogenic"	""
"0000128478"	"0"	"70"	"11"	"118362545"	"118362545"	"subst"	"0"	"01482"	"KMT2A_000027"	"g.118362545C>T"	""	""	""	"4897C>T (R1633*)"	""	"De novo"	"-"	""	"0"	""	""	"g.118491830C>T"	""	"likely pathogenic"	""
"0000128479"	"0"	"70"	"11"	"118373871"	"118373871"	"subst"	"0"	"01482"	"KMT2A_000028"	"g.118373871G>T"	""	"{PMID:Zemojtel 2014:25186178}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118503156G>T"	""	"likely pathogenic"	""
"0000128480"	"0"	"70"	"11"	"118376951"	"118376951"	"del"	"0"	"01482"	"KMT2A_000029"	"g.118376951del"	""	"{PMID:Zemojtel 2014:25186178}"	""	"10343delA"	""	"De novo"	"-"	""	"0"	""	""	"g.118506236del"	""	"likely pathogenic"	""
"0000130071"	"0"	"70"	"11"	"118348820"	"118348820"	"subst"	"0"	"01758"	"KMT2A_000030"	"g.118348820G>A"	""	"{PMID:Trujillano 2017:27848944}, {PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118478105G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000130105"	"0"	"70"	"11"	"118365075"	"118365075"	"subst"	"0"	"01758"	"KMT2A_000031"	"g.118365075A>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118494360A>T"	""	"likely pathogenic"	"ACMG"
"0000130214"	"0"	"70"	"11"	"118378269"	"118378269"	"subst"	"0"	"01758"	"KMT2A_000032"	"g.118378269C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118507554C>T"	""	"likely pathogenic"	"ACMG"
"0000147213"	"0"	"90"	"11"	"118307379"	"118307413"	"del"	"0"	"01839"	"KMT2A_000025"	"g.118307379_118307413del"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.118436664_118436698del"	""	"pathogenic"	""
"0000171267"	"0"	"90"	"11"	"118348807"	"118348807"	"subst"	"0"	"00067"	"KMT2A_000034"	"g.118348807C>T"	"1/200 patients"	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118478092C>T"	""	"pathogenic"	""
"0000171268"	"0"	"90"	"11"	"118375165"	"118375165"	"subst"	"0"	"00067"	"KMT2A_000035"	"g.118375165T>G"	"1/200 patients"	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118504450T>G"	""	"pathogenic"	""
"0000171269"	"0"	"90"	"11"	"118350900"	"118350900"	"subst"	"0"	"00067"	"KMT2A_000036"	"g.118350900G>A"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118480185G>A"	""	"pathogenic"	""
"0000171270"	"0"	"90"	"11"	"118390671"	"118390671"	"subst"	"0"	"00067"	"KMT2A_000033"	"g.118390671G>A"	""	""	""	"g.118502397G>A"	"variants descriptions at c. and g. level did not match, variant description uncertain"	"De novo"	"-"	""	"0"	""	""	"g.118519956G>A"	""	"pathogenic"	""
"0000171461"	"0"	"50"	"11"	"118339493"	"118339493"	"subst"	"8.12394E-6"	"00067"	"KMT2A_000037"	"g.118339493G>A"	""	""	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.118468778G>A"	""	"VUS"	""
"0000171462"	"0"	"50"	"11"	"118342727"	"118342727"	"subst"	"0"	"00067"	"KMT2A_000038"	"g.118342727T>C"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118472012T>C"	""	"VUS"	""
"0000171463"	"0"	"50"	"11"	"118344350"	"118344350"	"subst"	"0"	"00067"	"KMT2A_000039"	"g.118344350C>T"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118473635C>T"	""	"VUS"	""
"0000171464"	"0"	"50"	"11"	"118353176"	"118353176"	"subst"	"0"	"00067"	"KMT2A_000040"	"g.118353176C>T"	""	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.118482461C>T"	""	"VUS"	""
"0000171465"	"0"	"50"	"11"	"118359452"	"118359452"	"subst"	"0"	"00067"	"KMT2A_000041"	"g.118359452G>A"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118488737G>A"	""	"VUS"	""
"0000171466"	"0"	"50"	"11"	"118371814"	"118371814"	"subst"	"0"	"00067"	"KMT2A_000042"	"g.118371814G>C"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118501099G>C"	""	"VUS"	""
"0000171467"	"0"	"50"	"11"	"118373862"	"118373862"	"subst"	"0.000105756"	"00067"	"KMT2A_000043"	"g.118373862G>A"	""	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.118503147G>A"	""	"VUS"	""
"0000171468"	"0"	"50"	"11"	"118375525"	"118375525"	"subst"	"0"	"00067"	"KMT2A_000044"	"g.118375525C>G"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118504810C>G"	""	"VUS"	""
"0000171469"	"0"	"50"	"11"	"118375552"	"118375552"	"subst"	"0"	"00067"	"KMT2A_000045"	"g.118375552C>T"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118504837C>T"	""	"VUS"	""
"0000171470"	"0"	"50"	"11"	"118377211"	"118377211"	"subst"	"0"	"00067"	"KMT2A_000046"	"g.118377211G>T"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118506496G>T"	""	"VUS"	""
"0000171471"	"0"	"50"	"11"	"118377297"	"118377297"	"subst"	"0.00106927"	"00067"	"KMT2A_000047"	"g.118377297C>T"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118506582C>T"	""	"VUS"	""
"0000171472"	"0"	"50"	"11"	"118392700"	"118392700"	"subst"	"0"	"00067"	"KMT2A_000048"	"g.118392700C>T"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.118521985C>T"	""	"VUS"	""
"0000179018"	"0"	"90"	"11"	"118347698"	"118347698"	"subst"	"0"	"00729"	"KMT2A_000049"	"g.118347698G>A"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.118476983G>A"	""	"pathogenic"	""
"0000252525"	"0"	"90"	"11"	"118365075"	"118365075"	"subst"	"0"	"02326"	"KMT2A_000031"	"g.118365075A>T"	""	""	""	"KMT2A(NM_001197104.1):c.5251A>T (p.K1751*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118494360A>T"	""	"pathogenic"	""
"0000254541"	"0"	"30"	"11"	"118376925"	"118376925"	"subst"	"0.00185206"	"01943"	"KMT2A_000124"	"g.118376925A>G"	""	""	""	"KMT2A(NM_001197104.1):c.10318A>G (p.I3440V, p.(Ile3440Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506210A>G"	""	"likely benign"	""
"0000255130"	"0"	"30"	"11"	"118376249"	"118376249"	"subst"	"0"	"01943"	"KMT2A_000123"	"g.118376249A>G"	""	""	""	"KMT2A(NM_001197104.1):c.9642A>G (p.V3214=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118505534A>G"	""	"likely benign"	""
"0000255471"	"0"	"90"	"11"	"118354901"	"118354901"	"subst"	"0"	"01943"	"KMT2A_000122"	"g.118354901A>T"	""	""	""	"KMT2A(NM_005933.3):c.4090A>T (p.K1364*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118484186A>T"	""	"pathogenic"	""
"0000256553"	"0"	"50"	"11"	"118377216"	"118377216"	"subst"	"2.84271E-5"	"01943"	"KMT2A_000079"	"g.118377216A>G"	""	""	""	"KMT2A(NM_001197104.1):c.10609A>G (p.T3537A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506501A>G"	""	"VUS"	""
"0000283498"	"0"	"90"	"11"	"118352585"	"118352585"	"subst"	"0"	"02329"	"KMT2A_000060"	"g.118352585C>T"	""	""	""	"KMT2A(NM_001197104.2):c.3790C>T (p.R1264*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118481870C>T"	""	"pathogenic"	""
"0000283499"	"0"	"70"	"11"	"118355652"	"118355652"	"subst"	"0"	"02329"	"KMT2A_000062"	"g.118355652G>T"	""	""	""	"KMT2A(NM_001197104.2):c.4294G>T (p.V1432L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118484937G>T"	""	"likely pathogenic"	""
"0000285841"	"0"	"30"	"11"	"118373178"	"118373178"	"subst"	"8.20944E-5"	"02326"	"KMT2A_000067"	"g.118373178C>A"	""	""	""	"KMT2A(NM_001197104.1):c.6571C>A (p.R2191=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118502463C>A"	""	"likely benign"	""
"0000290419"	"0"	"50"	"11"	"118344600"	"118344600"	"subst"	"0.000589163"	"01943"	"KMT2A_000055"	"g.118344600G>A"	""	""	""	"KMT2A(NM_001197104.1):c.2726G>A (p.G909D), KMT2A(NM_001197104.2):c.2726G>A (p.G909D), KMT2A(NM_005933.3):c.2726G>A (p.G909D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118473885G>A"	""	"VUS"	""
"0000290420"	"0"	"30"	"11"	"118352596"	"118352596"	"subst"	"0"	"01943"	"KMT2A_000061"	"g.118352596C>T"	""	""	""	"KMT2A(NM_001197104.1):c.3801C>T (p.V1267=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118481881C>T"	""	"likely benign"	""
"0000290421"	"0"	"90"	"11"	"118360965"	"118360965"	"subst"	"0"	"01943"	"KMT2A_000063"	"g.118360965G>A"	""	""	""	"KMT2A(NM_005933.3):c.4696+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118490250G>A"	""	"pathogenic"	""
"0000290422"	"0"	"90"	"11"	"118342427"	"118342427"	"subst"	"0"	"01943"	"KMT2A_000053"	"g.118342427C>T"	""	""	""	"KMT2A(NM_001197104.1):c.553C>T (p.R185*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118471712C>T"	""	"pathogenic"	""
"0000290423"	"0"	"30"	"11"	"118368740"	"118368740"	"subst"	"2.84326E-5"	"01943"	"KMT2A_000066"	"g.118368740C>T"	""	""	""	"KMT2A(NM_001197104.1):c.5754C>T (p.D1918=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118498025C>T"	""	"likely benign"	""
"0000290424"	"0"	"90"	"11"	"118375740"	"118375740"	"subst"	"0"	"01943"	"KMT2A_000073"	"g.118375740C>T"	""	""	""	"KMT2A(NM_001197104.1):c.9133C>T (p.Q3045*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118505025C>T"	""	"pathogenic"	""
"0000322517"	"0"	"30"	"11"	"118339553"	"118339553"	"subst"	"4.06124E-6"	"01804"	"KMT2A_000052"	"g.118339553C>T"	""	""	""	"KMT2A(NM_001197104.1):c.496C>T (p.(Pro166Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118468838C>T"	""	"likely benign"	""
"0000322518"	"0"	"50"	"11"	"118342566"	"118342566"	"subst"	"0"	"01804"	"KMT2A_000054"	"g.118342566T>G"	""	""	""	"KMT2A(NM_001197104.1):c.692T>G (p.(Val231Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118471851T>G"	""	"VUS"	""
"0000322519"	"0"	"30"	"11"	"118344671"	"118344671"	"subst"	"2.43829E-5"	"01804"	"KMT2A_000056"	"g.118344671C>T"	""	""	""	"KMT2A(NM_001197104.1):c.2797C>T (p.(Arg933Trp)), KMT2A(NM_001197104.2):c.2797C>T (p.R933W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118473956C>T"	""	"likely benign"	""
"0000322522"	"0"	"50"	"11"	"118367007"	"118367007"	"subst"	"0.00149036"	"01804"	"KMT2A_000065"	"g.118367007G>T"	""	""	""	"KMT2A(NM_001197104.1):c.5589G>T (p.(Glu1863Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118496292G>T"	""	"VUS"	""
"0000322524"	"0"	"30"	"11"	"118373571"	"118373571"	"subst"	"0.0043427"	"01804"	"KMT2A_000069"	"g.118373571T>A"	""	""	""	"KMT2A(NM_001197104.1):c.6964T>A (p.(Ser2322Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118502856T>A"	""	"likely benign"	""
"0000322525"	"0"	"50"	"11"	"118375413"	"118375416"	"del"	"0"	"01804"	"KMT2A_000070"	"g.118375413_118375416del"	""	""	""	"KMT2A(NM_001197104.1):c.8799_8802del (p.(Val2936Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118504698_118504701del"	""	"VUS"	""
"0000322526"	"0"	"50"	"11"	"118375425"	"118375425"	"subst"	"4.06147E-6"	"01804"	"KMT2A_000071"	"g.118375425C>T"	""	""	""	"KMT2A(NM_001197104.1):c.8818C>T (p.(Arg2940Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118504710C>T"	""	"VUS"	""
"0000322527"	"0"	"50"	"11"	"118376268"	"118376268"	"del"	"0"	"01804"	"KMT2A_000074"	"g.118376268del"	""	""	""	"KMT2A(NM_001197104.1):c.9661del (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118505553del"	""	"VUS"	""
"0000322529"	"0"	"50"	"11"	"118376901"	"118376901"	"subst"	"0"	"01804"	"KMT2A_000076"	"g.118376901C>T"	""	""	""	"KMT2A(NM_001197104.1):c.10294C>T (p.(Leu3432Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506186C>T"	""	"VUS"	""
"0000322531"	"0"	"50"	"11"	"118377154"	"118377154"	"subst"	"0.000251811"	"01804"	"KMT2A_000078"	"g.118377154G>A"	""	""	""	"KMT2A(NM_001197104.1):c.10547G>A (p.G3516E, p.(Gly3516Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506439G>A"	""	"VUS"	""
"0000322533"	"0"	"50"	"11"	"118380722"	"118380722"	"subst"	"0"	"01804"	"KMT2A_000080"	"g.118380722C>T"	""	""	""	"KMT2A(NM_001197104.1):c.10960C>T (p.(Gln3654Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118510007C>T"	""	"VUS"	""
"0000337033"	"0"	"30"	"11"	"118390798"	"118390798"	"subst"	"0.00168498"	"02327"	"KMT2A_000118"	"g.118390798G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118520083G>A"	""	"likely benign"	""
"0000339317"	"0"	"10"	"11"	"118355642"	"118355642"	"subst"	"0.0502223"	"02327"	"KMT2A_000091"	"g.118355642A>C"	""	""	""	"KMT2A(NM_001197104.1):c.4284A>C (p.(Ile1428=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118484927A>C"	""	"benign"	""
"0000339318"	"0"	"10"	"11"	"118368665"	"118368665"	"subst"	"0.0497863"	"02327"	"KMT2A_000101"	"g.118368665A>G"	""	""	""	"KMT2A(NM_001197104.1):c.5679A>G (p.(Leu1893=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118497950A>G"	""	"benign"	""
"0000339319"	"0"	"10"	"11"	"118373861"	"118373861"	"subst"	"0.0575595"	"02327"	"KMT2A_000108"	"g.118373861C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118503146C>T"	""	"benign"	""
"0000341363"	"0"	"10"	"11"	"118307316"	"118307316"	"subst"	"0.0305344"	"02327"	"KMT2A_000081"	"g.118307316C>G"	""	""	""	"KMT2A(NM_001197104.1):c.89C>G (p.(Ala30Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118436601C>G"	""	"benign"	""
"0000341688"	"0"	"90"	"11"	"118347553"	"118347553"	"subst"	"0"	"02327"	"KMT2A_000086"	"g.118347553C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118476838C>T"	""	"pathogenic"	""
"0000341756"	"0"	"90"	"11"	"118348798"	"118348798"	"subst"	"0"	"02327"	"KMT2A_000087"	"g.118348798C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118478083C>T"	""	"pathogenic"	""
"0000342109"	"0"	"90"	"11"	"118366482"	"118366482"	"subst"	"0"	"02327"	"KMT2A_000097"	"g.118366482C>T"	""	""	""	"KMT2A(NM_001197104.2):c.5431C>T (p.R1811*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118495767C>T"	""	"pathogenic"	""
"0000342487"	"0"	"90"	"11"	"118374702"	"118374702"	"subst"	"0"	"02327"	"KMT2A_000110"	"g.118374702C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118503987C>T"	""	"pathogenic"	""
"0000342718"	"0"	"30"	"11"	"118377297"	"118377297"	"subst"	"0.00106927"	"02327"	"KMT2A_000047"	"g.118377297C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506582C>T"	""	"likely benign"	""
"0000344246"	"0"	"90"	"11"	"118348914"	"118348914"	"subst"	"0"	"02327"	"KMT2A_000089"	"g.118348914C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118478199C>A"	""	"pathogenic"	""
"0000344311"	"0"	"90"	"11"	"118372478"	"118372478"	"subst"	"0"	"02327"	"KMT2A_000106"	"g.118372478T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118501763T>A"	""	"pathogenic"	""
"0000344783"	"0"	"90"	"11"	"118342922"	"118342922"	"subst"	"0"	"02327"	"KMT2A_000083"	"g.118342922C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118472207C>T"	""	"pathogenic"	""
"0000345842"	"0"	"70"	"11"	"118370573"	"118370573"	"subst"	"0"	"02327"	"KMT2A_000105"	"g.118370573G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118499858G>A"	""	"likely pathogenic"	""
"0000345980"	"0"	"30"	"11"	"118375998"	"118375998"	"subst"	"0.00237834"	"02327"	"KMT2A_000112"	"g.118375998G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118505283G>A"	""	"likely benign"	""
"0000346014"	"0"	"90"	"11"	"118377005"	"118377006"	"del"	"0"	"02327"	"KMT2A_000114"	"g.118377005_118377006del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506290_118506291del"	""	"pathogenic"	""
"0000346350"	"0"	"50"	"11"	"118344876"	"118344876"	"subst"	"4.06114E-6"	"02327"	"KMT2A_000085"	"g.118344876A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118474161A>G"	""	"VUS"	""
"0000347462"	"0"	"90"	"11"	"118368780"	"118368780"	"subst"	"0"	"02327"	"KMT2A_000102"	"g.118368780A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118498065A>T"	""	"pathogenic"	""
"0000347542"	"0"	"90"	"11"	"118377227"	"118377227"	"del"	"0"	"02327"	"KMT2A_000115"	"g.118377227del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506512del"	""	"pathogenic"	""
"0000348400"	"0"	"50"	"11"	"118377325"	"118377325"	"subst"	"4.0942E-6"	"02327"	"KMT2A_000116"	"g.118377325C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118506610C>T"	""	"VUS"	""
"0000348667"	"0"	"70"	"11"	"118348802"	"118348802"	"subst"	"0"	"02327"	"KMT2A_000088"	"g.118348802C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118478087C>A"	""	"likely pathogenic"	""
"0000348913"	"0"	"50"	"11"	"118375341"	"118375341"	"subst"	"0"	"02327"	"KMT2A_000111"	"g.118375341A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118504626A>G"	""	"VUS"	""
"0000349203"	"0"	"90"	"11"	"118307496"	"118307496"	"subst"	"0"	"02327"	"KMT2A_000082"	"g.118307496C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118436781C>A"	""	"pathogenic"	""
"0000349369"	"0"	"30"	"11"	"118373400"	"118373400"	"subst"	"1.62803E-5"	"02327"	"KMT2A_000107"	"g.118373400A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118502685A>C"	""	"likely benign"	""
"0000349696"	"0"	"90"	"11"	"118359417"	"118359417"	"subst"	"0"	"02327"	"KMT2A_000092"	"g.118359417G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118488702G>A"	""	"pathogenic"	""
"0000349699"	"0"	"90"	"11"	"118360903"	"118360903"	"subst"	"0"	"02327"	"KMT2A_000093"	"g.118360903G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118490188G>C"	""	"pathogenic"	""
"0000350854"	"0"	"90"	"11"	"118360965"	"118360965"	"subst"	"0"	"02327"	"KMT2A_000094"	"g.118360965G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118490250G>T"	""	"pathogenic"	""
"0000350856"	"0"	"30"	"11"	"118370015"	"118370015"	"subst"	"0"	"02327"	"KMT2A_000104"	"g.118370015A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.118499300A>T"	""	"likely benign"	""
"0000356895"	"0"	"90"	"11"	"118352728"	"118352728"	"dup"	"0"	"01807"	"KMT2A_000120"	"g.118352728dup"	""	""	""	"3933dupT"	""	"Unknown"	""	""	"0"	""	""	"g.118482013dup"	""	"pathogenic"	""
"0000356911"	"0"	"50"	"11"	"118350932"	"118350932"	"subst"	"4.06263E-6"	"01807"	"KMT2A_000121"	"g.118350932T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.118480217T>C"	""	"VUS"	""
"0000369808"	"0"	"90"	"11"	"118355000"	"118355000"	"subst"	"0"	"00067"	"KMT2A_000125"	"g.118355000G>T"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118484285G>T"	""	"pathogenic (dominant)"	""
"0000408761"	"0"	"90"	"11"	"118373141"	"118373141"	"dup"	"0"	"00006"	"KMT2A_000126"	"g.118373141dup"	""	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	"6533_6534insA"	""	"De novo"	""	""	"0"	""	""	"g.118502426dup"	""	"pathogenic (dominant)"	""
"0000408772"	"0"	"90"	"11"	"118376289"	"118376289"	"del"	"0"	"00006"	"KMT2A_000127"	"g.118376289del"	""	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	"9682_9682delC"	""	"De novo"	""	""	"0"	""	""	"g.118505574del"	""	"pathogenic (dominant)"	""
"0000438222"	"0"	"70"	"11"	"118365483"	"118365483"	"del"	"0"	"03112"	"KMT2A_000128"	"g.118365483del"	""	""	""	"5363+1delG"	""	"De novo"	""	""	"0"	""	""	"g.118494768del"	""	"likely pathogenic"	""
"0000438936"	"21"	"90"	"11"	"118378325"	"118378325"	"subst"	"0"	"00006"	"KMT2A_000129"	"g.118378325G>A"	""	"{PMID:Bogaert 2017:28623346}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.118507610G>A"	""	"pathogenic"	""
"0000443909"	"0"	"90"	"11"	"118343041"	"118343041"	"del"	"0"	"03145"	"KMT2A_000130"	"g.118343041del"	""	""	""	"g.118343041-118343044del"	""	"De novo"	"yes"	""	"0"	""	""	"g.118472326del"	""	"pathogenic (dominant)"	""
"0000542561"	"0"	"50"	"11"	"118307250"	"118307250"	"subst"	"0"	"01943"	"KMT2A_000131"	"g.118307250G>C"	""	""	""	"KMT2A(NM_001197104.1):c.23G>C (p.R8P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118436535G>C"	""	"VUS"	""
"0000542562"	"0"	"30"	"11"	"118307316"	"118307316"	"subst"	"0.0305344"	"01804"	"KMT2A_000081"	"g.118307316C>G"	""	""	""	"KMT2A(NM_001197104.1):c.89C>G (p.(Ala30Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118436601C>G"	""	"likely benign"	""
"0000542563"	"0"	"30"	"11"	"118307487"	"118307487"	"subst"	"1.35093E-5"	"01804"	"KMT2A_000132"	"g.118307487C>T"	""	""	""	"KMT2A(NM_001197104.1):c.260C>T (p.(Ser87Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118436772C>T"	""	"likely benign"	""
"0000542564"	"0"	"30"	"11"	"118339545"	"118339545"	"subst"	"1.21833E-5"	"01804"	"KMT2A_000133"	"g.118339545C>G"	""	""	""	"KMT2A(NM_001197104.1):c.488C>G (p.(Thr163Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118468830C>G"	""	"likely benign"	""
"0000542565"	"0"	"30"	"11"	"118342516"	"118342516"	"subst"	"0"	"01943"	"KMT2A_000134"	"g.118342516T>C"	""	""	""	"KMT2A(NM_001197104.1):c.642T>C (p.D214=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118471801T>C"	""	"likely benign"	""
"0000542568"	"0"	"30"	"11"	"118343378"	"118343378"	"subst"	"0.00690447"	"01943"	"KMT2A_000137"	"g.118343378G>A"	""	""	""	"KMT2A(NM_001197104.1):c.1504G>A (p.E502K, p.(Glu502Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118472663G>A"	""	"likely benign"	""
"0000542569"	"0"	"30"	"11"	"118343378"	"118343378"	"subst"	"0.00690447"	"01804"	"KMT2A_000137"	"g.118343378G>A"	""	""	""	"KMT2A(NM_001197104.1):c.1504G>A (p.E502K, p.(Glu502Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118472663G>A"	""	"likely benign"	""
"0000542570"	"0"	"30"	"11"	"118343393"	"118343393"	"subst"	"0.00013838"	"02326"	"KMT2A_000138"	"g.118343393C>T"	""	""	""	"KMT2A(NM_001197104.1):c.1519C>T (p.P507S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118472678C>T"	""	"likely benign"	""
"0000542571"	"0"	"90"	"11"	"118343459"	"118343459"	"subst"	"0"	"02327"	"KMT2A_000139"	"g.118343459A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118472744A>T"	""	"pathogenic"	""
"0000542572"	"0"	"90"	"11"	"118344192"	"118344192"	"dup"	"0"	"02325"	"KMT2A_000140"	"g.118344192dup"	""	""	""	"KMT2A(NM_001197104.2):c.2318dupC (p.S774Vfs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118473477dup"	""	"pathogenic"	""
"0000542575"	"0"	"30"	"11"	"118344699"	"118344699"	"subst"	"3.65711E-5"	"01943"	"KMT2A_000143"	"g.118344699G>A"	""	""	""	"KMT2A(NM_001197104.1):c.2825G>A (p.G942E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118473984G>A"	""	"likely benign"	""
"0000542577"	"0"	"10"	"11"	"118347654"	"118347654"	"subst"	"0.00432067"	"02327"	"KMT2A_000144"	"g.118347654A>G"	""	""	""	"KMT2A(NM_001197104.2):c.3291A>G (p.(Pro1097=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118476939A>G"	""	"benign"	""
"0000542578"	"0"	"90"	"11"	"118347698"	"118347698"	"subst"	"0"	"02327"	"KMT2A_000049"	"g.118347698G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118476983G>A"	""	"pathogenic"	""
"0000542579"	"0"	"30"	"11"	"118348733"	"118348733"	"subst"	"0"	"02327"	"KMT2A_000145"	"g.118348733T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118478018T>C"	""	"likely benign"	""
"0000542580"	"0"	"50"	"11"	"118352451"	"118352451"	"subst"	"0"	"02327"	"KMT2A_000146"	"g.118352451A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118481736A>G"	""	"VUS"	""
"0000542581"	"0"	"50"	"11"	"118352793"	"118352793"	"subst"	"0"	"01943"	"KMT2A_000147"	"g.118352793C>T"	""	""	""	"KMT2A(NM_001197104.1):c.3998C>T (p.P1333L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118482078C>T"	""	"VUS"	""
"0000542583"	"0"	"30"	"11"	"118353218"	"118353218"	"subst"	"0.000110224"	"02326"	"KMT2A_000149"	"g.118353218G>C"	""	""	""	"KMT2A(NM_001197104.1):c.4086+8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118482503G>C"	""	"likely benign"	""
"0000542584"	"0"	"30"	"11"	"118355612"	"118355612"	"subst"	"0.000394091"	"01943"	"KMT2A_000150"	"g.118355612A>T"	""	""	""	"KMT2A(NM_001197104.1):c.4254A>T (p.G1418=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118484897A>T"	""	"likely benign"	""
"0000542585"	"0"	"70"	"11"	"118359422"	"118359422"	"subst"	"0"	"02327"	"KMT2A_000151"	"g.118359422T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118488707T>G"	""	"likely pathogenic"	""
"0000542586"	"0"	"70"	"11"	"118360569"	"118360569"	"subst"	"0"	"02327"	"KMT2A_000152"	"g.118360569C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118489854C>A"	""	"likely pathogenic"	""
"0000542588"	"0"	"50"	"11"	"118360967"	"118360967"	"subst"	"0"	"01943"	"KMT2A_000154"	"g.118360967A>G"	""	""	""	"KMT2A(NM_001197104.1):c.4696+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118490252A>G"	""	"VUS"	""
"0000542589"	"0"	"30"	"11"	"118361972"	"118361972"	"subst"	"0"	"01804"	"KMT2A_000155"	"g.118361972G>A"	""	""	""	"KMT2A(NM_001197104.1):c.4758G>A (p.(Met1586Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118491257G>A"	""	"likely benign"	""
"0000542590"	"0"	"30"	"11"	"118365118"	"118365118"	"subst"	"0.000240361"	"01943"	"KMT2A_000156"	"g.118365118A>G"	""	""	""	"KMT2A(NM_001197104.1):c.5289+5A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118494403A>G"	""	"likely benign"	""
"0000542592"	"0"	"70"	"11"	"118366974"	"118366974"	"subst"	"0"	"02327"	"KMT2A_000157"	"g.118366974A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118496259A>G"	""	"likely pathogenic"	""
"0000542594"	"0"	"50"	"11"	"118370131"	"118370131"	"subst"	"0"	"02327"	"KMT2A_000159"	"g.118370131G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118499416G>A"	""	"VUS"	""
"0000542595"	"0"	"30"	"11"	"118372559"	"118372559"	"subst"	"0.000209368"	"02326"	"KMT2A_000160"	"g.118372559G>A"	""	""	""	"KMT2A(NM_001197104.1):c.6492G>A (p.P2164=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118501844G>A"	""	"likely benign"	""
"0000542596"	"0"	"50"	"11"	"118373457"	"118373457"	"subst"	"0"	"02327"	"KMT2A_000161"	"g.118373457G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118502742G>T"	""	"VUS"	""
"0000542597"	"0"	"30"	"11"	"118373936"	"118373936"	"subst"	"0"	"01804"	"KMT2A_000162"	"g.118373936G>C"	""	""	""	"KMT2A(NM_001197104.1):c.7329G>C (p.(Lys2443Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118503221G>C"	""	"likely benign"	""
"0000542598"	"0"	"50"	"11"	"118376062"	"118376062"	"subst"	"0"	"01804"	"KMT2A_000163"	"g.118376062C>T"	""	""	""	"KMT2A(NM_001197104.1):c.9455C>T (p.(Ala3152Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118505347C>T"	""	"VUS"	""
"0000542599"	"0"	"70"	"11"	"118376440"	"118376440"	"del"	"0"	"02325"	"KMT2A_000164"	"g.118376440del"	""	""	""	"KMT2A(NM_001197104.2):c.9833delA (p.N3278Ifs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118505725del"	""	"likely pathogenic"	""
"0000542601"	"0"	"30"	"11"	"118377025"	"118377025"	"subst"	"8.1213E-6"	"01804"	"KMT2A_000166"	"g.118377025G>A"	""	""	""	"KMT2A(NM_001197104.1):c.10418G>A (p.R3473H, p.(Arg3473His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118506310G>A"	""	"likely benign"	""
"0000542602"	"0"	"30"	"11"	"118377048"	"118377048"	"subst"	"2.03037E-5"	"01943"	"KMT2A_000167"	"g.118377048C>A"	""	""	""	"KMT2A(NM_001197104.1):c.10441C>A (p.P3481T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118506333C>A"	""	"likely benign"	""
"0000542603"	"0"	"30"	"11"	"118377082"	"118377082"	"subst"	"0.000190869"	"01943"	"KMT2A_000168"	"g.118377082C>T"	""	""	""	"KMT2A(NM_001197104.1):c.10475C>T (p.A3492V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118506367C>T"	""	"likely benign"	""
"0000542604"	"0"	"70"	"11"	"118377143"	"118377143"	"del"	"0"	"01804"	"KMT2A_000169"	"g.118377143del"	""	""	""	"KMT2A(NM_001197104.1):c.10533delC (p.(Thr3513ProfsTer38))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118506428del"	""	"likely pathogenic"	""
"0000542605"	"0"	"30"	"11"	"118379865"	"118379865"	"subst"	"0.000865199"	"01943"	"KMT2A_000170"	"g.118379865T>C"	""	""	""	"KMT2A(NM_001197104.1):c.10850T>C (p.L3617P, p.(Leu3617Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118509150T>C"	""	"likely benign"	""
"0000542606"	"0"	"30"	"11"	"118379865"	"118379865"	"subst"	"0.000865199"	"01804"	"KMT2A_000170"	"g.118379865T>C"	""	""	""	"KMT2A(NM_001197104.1):c.10850T>C (p.L3617P, p.(Leu3617Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118509150T>C"	""	"likely benign"	""
"0000542607"	"0"	"70"	"11"	"118380662"	"118380662"	"subst"	"0"	"02327"	"KMT2A_000171"	"g.118380662G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118509947G>T"	""	"likely pathogenic"	""
"0000542609"	"0"	"50"	"11"	"118390431"	"118390431"	"subst"	"4.06058E-6"	"01943"	"TTC36_000001"	"g.118390431C>T"	""	""	""	"KMT2A(NM_001197104.1):c.11245C>T (p.R3749C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118519716C>T"	""	"VUS"	""
"0000542610"	"0"	"30"	"11"	"118391592"	"118391592"	"subst"	"0.0010518"	"01943"	"TTC36_000002"	"g.118391592T>G"	""	""	""	"KMT2A(NM_001197104.1):c.11505T>G (p.G3835=, p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118520877T>G"	""	"likely benign"	""
"0000542611"	"0"	"50"	"11"	"118392804"	"118392804"	"subst"	"4.06072E-6"	"02325"	"TTC36_000003"	"g.118392804G>A"	""	""	""	"KMT2A(NM_001197104.2):c.11836G>A (p.D3946N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118522089G>A"	""	"VUS"	""
"0000613077"	"0"	"70"	"11"	"118343792"	"118343813"	"del"	"0"	"02327"	"KMT2A_000173"	"g.118343792_118343813del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118473077_118473098del"	""	"likely pathogenic"	""
"0000613078"	"0"	"90"	"11"	"118347664"	"118347664"	"subst"	"0"	"02325"	"KMT2A_000174"	"g.118347664C>T"	""	""	""	"KMT2A(NM_001197104.2):c.3301C>T (p.R1101*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118476949C>T"	""	"pathogenic"	""
"0000613079"	"0"	"90"	"11"	"118348722"	"118348722"	"del"	"0"	"02327"	"KMT2A_000175"	"g.118348722del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118478007del"	""	"pathogenic"	""
"0000613080"	"0"	"50"	"11"	"118353178"	"118353178"	"subst"	"4.06303E-6"	"01943"	"KMT2A_000178"	"g.118353178A>G"	""	""	""	"KMT2A(NM_001197104.1):c.4054A>G (p.S1352G, p.(Ser1352Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118482463A>G"	""	"VUS"	""
"0000613081"	"0"	"30"	"11"	"118363810"	"118363810"	"subst"	"0"	"01804"	"KMT2A_000179"	"g.118363810G>C"	""	""	""	"KMT2A(NM_001197104.1):c.5043G>C (p.(Glu1681Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118493095G>C"	""	"likely benign"	""
"0000613082"	"0"	"70"	"11"	"118368694"	"118368694"	"subst"	"0"	"02327"	"KMT2A_000180"	"g.118368694A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118497979A>G"	""	"likely pathogenic"	""
"0000613083"	"0"	"90"	"11"	"118372512"	"118372512"	"subst"	"0"	"01943"	"KMT2A_000181"	"g.118372512C>T"	""	""	""	"KMT2A(NM_001197104.1):c.6445C>T (p.R2149*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118501797C>T"	""	"pathogenic"	""
"0000613084"	"0"	"30"	"11"	"118373790"	"118373790"	"subst"	"0.000448954"	"01804"	"KMT2A_000184"	"g.118373790T>C"	""	""	""	"KMT2A(NM_001197104.1):c.7183T>C (p.S2395P, p.(Ser2395Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118503075T>C"	""	"likely benign"	""
"0000613085"	"0"	"50"	"11"	"118376007"	"118376007"	"subst"	"0.000121992"	"01943"	"KMT2A_000185"	"g.118376007C>T"	""	""	""	"KMT2A(NM_001197104.1):c.9400C>T (p.L3134F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118505292C>T"	""	"VUS"	""
"0000622558"	"0"	"30"	"11"	"118352479"	"118352479"	"subst"	"7.72603E-5"	"02326"	"KMT2A_000176"	"g.118352479C>T"	""	""	""	"KMT2A(NM_001197104.1):c.3684C>T (p.S1228=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118481764C>T"	""	"likely benign"	""
"0000622559"	"0"	"90"	"11"	"118352717"	"118352717"	"subst"	"0"	"02325"	"KMT2A_000177"	"g.118352717C>T"	""	""	""	"KMT2A(NM_001197104.2):c.3922C>T (p.Q1308*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118482002C>T"	""	"pathogenic"	""
"0000622560"	"0"	"30"	"11"	"118353218"	"118353218"	"subst"	"0.000110224"	"01943"	"KMT2A_000149"	"g.118353218G>C"	""	""	""	"KMT2A(NM_001197104.1):c.4086+8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118482503G>C"	""	"likely benign"	""
"0000622561"	"0"	"50"	"11"	"118373191"	"118373191"	"subst"	"0"	"01943"	"KMT2A_000182"	"g.118373191C>A"	""	""	""	"KMT2A(NM_001197104.1):c.6584C>A (p.S2195Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118502476C>A"	""	"VUS"	""
"0000622563"	"0"	"30"	"11"	"118379865"	"118379865"	"subst"	"0.000865199"	"02326"	"KMT2A_000170"	"g.118379865T>C"	""	""	""	"KMT2A(NM_001197104.1):c.10850T>C (p.L3617P, p.(Leu3617Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118509150T>C"	""	"likely benign"	""
"0000628268"	"11"	"50"	"11"	"118376569"	"118376569"	"subst"	"0.000227422"	"02061"	"KMT2A_000165"	"g.118376569C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.118505854C>T"	""	"VUS"	""
"0000630834"	"0"	"90"	"11"	"118342427"	"118342427"	"subst"	"0"	"03112"	"KMT2A_000053"	"g.118342427C>T"	""	"{PMID:Di Fede 2021:32641752}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118471712C>T"	""	"pathogenic (dominant)"	""
"0000630835"	"0"	"50"	"11"	"118343571"	"118343591"	"dup"	"0"	"03112"	"KMT2A_000186"	"g.118343571_118343591dup"	""	"{PMID:Di Fede 2021:32641752}"	""	"1692_1693insCTGCTGACTCCACCGCCACCA"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.118472856_118472876dup"	""	"VUS"	""
"0000630836"	"0"	"90"	"11"	"118350915"	"118350915"	"subst"	"0"	"03112"	"KMT2A_000187"	"g.118350915G>A"	""	"{PMID:Di Fede 2021:32641752}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118480200G>A"	""	"pathogenic (dominant)"	""
"0000630837"	"0"	"90"	"11"	"118350923"	"118350923"	"del"	"0"	"03112"	"KMT2A_000188"	"g.118350923del"	""	"{PMID:Di Fede 2021:32641752}"	""	"3603delT"	""	"De novo"	""	""	"0"	""	""	"g.118480208del"	""	"pathogenic (dominant)"	""
"0000630838"	"0"	"90"	"11"	"118350952"	"118350956"	"del"	"0"	"03112"	"KMT2A_000189"	"g.118350952_118350956del"	""	"{PMID:Di Fede 2021:32641752}"	""	"3632_3634+2delAAGgt"	""	"De novo"	""	""	"0"	""	""	"g.118480237_118480241del"	""	"pathogenic (dominant)"	""
"0000630839"	"0"	"70"	"11"	"118352697"	"118352700"	"dup"	"0"	"03112"	"KMT2A_000190"	"g.118352697_118352700dup"	""	"{PMID:Di Fede 2021:32641752}"	""	"3897_3900dupCCAG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.118481982_118481985dup"	""	"likely pathogenic"	""
"0000630998"	"0"	"70"	"11"	"118344387"	"118344387"	"subst"	"0"	"03555"	"KMT2A_000191"	"g.118344387G>A"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118473672G>A"	""	"pathogenic (dominant)"	""
"0000631940"	"0"	"90"	"11"	"118369169"	"118369169"	"subst"	"0"	"01807"	"KMT2A_000192"	"g.118369169C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.118498454C>T"	""	"pathogenic"	""
"0000632238"	"0"	"70"	"11"	"118359432"	"118359432"	"subst"	"0"	"03555"	"KMT2A_000193"	"g.118359432G>C"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118488717G>C"	""	"likely pathogenic"	"ACMG"
"0000632239"	"0"	"70"	"11"	"118373794"	"118373798"	"dup"	"0"	"03555"	"KMT2A_000194"	"g.118373794_118373798dup"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"7187_7191dupCAGAT"	""	"De novo"	""	""	"0"	""	""	"g.118503079_118503083dup"	""	"pathogenic"	"ACMG"
"0000632240"	"0"	"70"	"11"	"118374153"	"118374153"	"subst"	"0"	"03555"	"KMT2A_000195"	"g.118374153C>T"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118503438C>T"	""	"pathogenic"	"ACMG"
"0000632241"	"0"	"70"	"11"	"118343462"	"118343462"	"dup"	"0"	"03555"	"KMT2A_000196"	"g.118343462dup"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"1588dupA"	""	"De novo"	""	""	"0"	""	""	"g.118472747dup"	""	"pathogenic"	"ACMG"
"0000632242"	"0"	"70"	"11"	"118376464"	"118376465"	"del"	"0"	"03555"	"KMT2A_000197"	"g.118376464_118376465del"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"9857_9858delCC"	""	"De novo"	""	""	"0"	""	""	"g.118505749_118505750del"	""	"pathogenic"	"ACMG"
"0000632243"	"0"	"70"	"11"	"118373244"	"118373244"	"del"	"0"	"03555"	"KMT2A_000198"	"g.118373244del"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"6637delA"	""	"De novo"	""	""	"0"	""	""	"g.118502529del"	""	"pathogenic"	"ACMG"
"0000632244"	"0"	"90"	"11"	"118348807"	"118348807"	"subst"	"0"	"03555"	"KMT2A_000034"	"g.118348807C>T"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118478092C>T"	""	"pathogenic"	"ACMG"
"0000632245"	"0"	"70"	"11"	"118344192"	"118344192"	"dup"	"0"	"03555"	"KMT2A_000140"	"g.118344192dup"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"2318dupC"	""	"De novo"	""	""	"0"	""	""	"g.118473477dup"	""	"pathogenic"	"ACMG"
"0000645293"	"0"	"90"	"11"	"118348868"	"118348868"	"subst"	"0"	"00006"	"KMT2A_000199"	"g.118348868T>G"	""	"{PMID:Lee 2019:31607746}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118478153T>G"	"{CV:000746574.1}"	"pathogenic (dominant)"	""
"0000648112"	"1"	"30"	"11"	"118375998"	"118375998"	"subst"	"0.00237834"	"03575"	"KMT2A_000112"	"g.118375998G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs150804738}"	"Germline"	""	"rs150804738"	"0"	""	""	"g.118505283G>A"	""	"likely benign"	""
"0000656706"	"0"	"30"	"11"	"118343878"	"118343878"	"subst"	"7.72439E-5"	"01943"	"KMT2A_000200"	"g.118343878T>G"	""	""	""	"KMT2A(NM_001197104.1):c.2004T>G (p.S668=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118473163T>G"	""	"likely benign"	""
"0000656707"	"0"	"50"	"11"	"118347520"	"118347520"	"subst"	"0"	"02325"	"KMT2A_000201"	"g.118347520G>A"	""	""	""	"KMT2A(NM_001197104.2):c.3157G>A (p.G1053S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118476805G>A"	""	"VUS"	""
"0000656708"	"0"	"30"	"11"	"118352434"	"118352434"	"subst"	"1.66621E-5"	"01943"	"KMT2A_000202"	"g.118352434G>A"	""	""	""	"KMT2A(NM_001197104.1):c.3639G>A (p.V1213=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118481719G>A"	""	"likely benign"	""
"0000656709"	"0"	"10"	"11"	"118355642"	"118355642"	"subst"	"0.0502223"	"01804"	"KMT2A_000091"	"g.118355642A>C"	""	""	""	"KMT2A(NM_001197104.1):c.4284A>C (p.(Ile1428=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118484927A>C"	""	"benign"	""
"0000656710"	"0"	"30"	"11"	"118361915"	"118361915"	"subst"	"8.16007E-6"	"01943"	"KMT2A_000203"	"g.118361915C>T"	""	""	""	"KMT2A(NM_001197104.1):c.4701C>T (p.N1567=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118491200C>T"	""	"likely benign"	""
"0000656711"	"0"	"10"	"11"	"118368665"	"118368665"	"subst"	"0.0497863"	"01804"	"KMT2A_000101"	"g.118368665A>G"	""	""	""	"KMT2A(NM_001197104.1):c.5679A>G (p.(Leu1893=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118497950A>G"	""	"benign"	""
"0000656712"	"0"	"50"	"11"	"118372545"	"118372545"	"subst"	"0"	"01943"	"KMT2A_000204"	"g.118372545C>A"	""	""	""	"KMT2A(NM_001197104.1):c.6478C>A (p.P2160T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118501830C>A"	""	"VUS"	""
"0000656714"	"0"	"30"	"11"	"118391592"	"118391592"	"subst"	"0.0010518"	"01804"	"TTC36_000002"	"g.118391592T>G"	""	""	""	"KMT2A(NM_001197104.1):c.11505T>G (p.G3835=, p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.118520877T>G"	""	"likely benign"	""
"0000659701"	"0"	"70"	"11"	"118371828"	"118371828"	"del"	"0"	"01164"	"KMT2A_000205"	"g.118371828del"	""	""	""	""	"ACMG grading: PVS1,PM2"	"Germline"	""	""	"0"	""	""	"g.118501113del"	""	"likely pathogenic"	"ACMG"
"0000665814"	"0"	"50"	"11"	"118342755"	"118342755"	"subst"	"0"	"01164"	"KMT2A_000206"	"g.118342755G>T"	""	""	""	""	"ACMG grading: PM2,PP3"	"Germline"	""	""	"0"	""	""	"g.118472040G>T"	""	"VUS"	"ACMG"
"0000667534"	"0"	"90"	"11"	"118344129"	"118344129"	"dup"	"0"	"00006"	"KMT2A_000211"	"g.118344129dup"	""	"{PMID:Helbig 2016:26795593}"	""	"2255dupC"	""	"De novo"	""	""	"0"	""	""	"g.118473414dup"	""	"pathogenic (dominant)"	"ACMG"
"0000667535"	"0"	"90"	"11"	"118344136"	"118344136"	"del"	"0"	"00006"	"KMT2A_000212"	"g.118344136del"	""	"{PMID:Helbig 2016:26795593}"	""	"2262delC"	""	"De novo"	""	""	"0"	""	""	"g.118473421del"	""	"pathogenic (dominant)"	"ACMG"
"0000667536"	"0"	"90"	"11"	"118344067"	"118344067"	"del"	"0"	"00006"	"KMT2A_000210"	"g.118344067del"	""	"{PMID:Helbig 2016:26795593}"	""	"2193delA"	""	"De novo"	""	""	"0"	""	""	"g.118473352del"	""	"pathogenic (dominant)"	"ACMG"
"0000667637"	"1"	"90"	"11"	"0"	"0"	""	"0"	"00006"	"KMT2A_000208"	"g.[NC_000023.10:pter_48958100]delins118359082_qterinv"	""	"{PMID:Brassesco 2018:30553463}"	""	""	""	"DUPLICATE record"	""	""	"0"	""	"t(X;11)(p11.2;q23)"	""	""	"pathogenic"	""
"0000667638"	"1"	"90"	"11"	"0"	"0"	""	"0"	"00006"	"KMT2A_000209"	"g.118353384_qterdelins[NC_000017.10:36871301_qter]"	""	"{PMID:Brassesco 2018:30553463}"	""	""	""	"Somatic"	""	""	"0"	""	"t(11;17)(q23;q12)"	""	""	"pathogenic"	""
"0000667645"	"1"	"90"	"11"	"0"	"0"	""	"0"	"00006"	"KMT2A_000208"	"g.[NC_000017.10:36871301_qter]delins[118353384_118359081;NC_000023.10:pter_48958100inv]"	""	"{PMID:Brassesco 2018:30553463}"	""	""	""	"DUPLICATE record"	""	""	"0"	""	"t(X;11;17)(p11.2;q23;q12)"	""	""	"pathogenic"	""
"0000668655"	"0"	"90"	"11"	"118348687"	"118348687"	"del"	"0"	"01807"	"KMT2A_000213"	"g.118348687del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000674010"	"0"	"90"	"11"	"118378305"	"118378305"	"subst"	"0"	"01807"	"KMT2A_000214"	"g.118378305G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000679065"	"0"	"90"	"11"	"118342805"	"118342805"	"del"	"0"	"02325"	"KMT2A_000215"	"g.118342805del"	""	""	""	"KMT2A(NM_001197104.2):c.931delA (p.R311Gfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000679066"	"0"	"30"	"11"	"118343383"	"118343383"	"subst"	"9.36291E-5"	"02326"	"KMT2A_000216"	"g.118343383G>C"	""	""	""	"KMT2A(NM_001197104.1):c.1509G>C (p.R503=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679067"	"0"	"30"	"11"	"118344352"	"118344352"	"subst"	"0"	"01943"	"KMT2A_000217"	"g.118344352A>G"	""	""	""	"KMT2A(NM_001197104.1):c.2478A>G (p.P826=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679068"	"0"	"30"	"11"	"118355049"	"118355049"	"subst"	"0.00173974"	"01804"	"KMT2A_000218"	"g.118355049A>G"	""	""	""	"KMT2A(NM_001197104.1):c.4218+20A>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679069"	"0"	"90"	"11"	"118366550"	"118366550"	"del"	"0"	"02330"	"KMT2A_000219"	"g.118366550del"	""	""	""	"KMT2A(NM_001197104.1):c.5499delA (p.G1834Vfs*19)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000679071"	"0"	"30"	"11"	"118376925"	"118376925"	"subst"	"0.00185206"	"01804"	"KMT2A_000124"	"g.118376925A>G"	""	""	""	"KMT2A(NM_001197104.1):c.10318A>G (p.I3440V, p.(Ile3440Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679072"	"0"	"30"	"11"	"118392075"	"118392075"	"subst"	"0.00010964"	"01943"	"TTC36_000005"	"g.118392075C>T"	""	""	""	"KMT2A(NM_001197104.1):c.11586C>T (p.A3862=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000683258"	"0"	"50"	"11"	"118307402"	"118307402"	"subst"	"0"	"01164"	"KMT2A_000221"	"g.118307402G>A"	""	""	""	""	"ACMG grading: BP4,PM2\r\n5y old male individuum"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000690947"	"0"	"30"	"11"	"118348824"	"118348824"	"subst"	"0.000121821"	"01943"	"KMT2A_000222"	"g.118348824C>T"	""	""	""	"KMT2A(NM_001197104.1):c.3477C>T (p.P1159=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690948"	"0"	"30"	"11"	"118367049"	"118367049"	"subst"	"0.000816264"	"01943"	"KMT2A_000223"	"g.118367049G>A"	""	""	""	"KMT2A(NM_001197104.1):c.5631G>A (p.A1877=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690949"	"0"	"30"	"11"	"118373773"	"118373773"	"subst"	"4.0808E-6"	"01943"	"KMT2A_000224"	"g.118373773C>A"	""	""	""	"KMT2A(NM_001197104.1):c.7166C>A (p.T2389N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690950"	"0"	"30"	"11"	"118373790"	"118373790"	"subst"	"0.000448954"	"01943"	"KMT2A_000184"	"g.118373790T>C"	""	""	""	"KMT2A(NM_001197104.1):c.7183T>C (p.S2395P, p.(Ser2395Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690951"	"0"	"10"	"11"	"118374296"	"118374296"	"subst"	"0.0020592"	"01804"	"KMT2A_000225"	"g.118374296A>G"	""	""	""	"KMT2A(NM_001197104.1):c.7689A>G (p.(Ser2563=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000690952"	"0"	"10"	"11"	"118374647"	"118374647"	"subst"	"0.00192581"	"01804"	"KMT2A_000226"	"g.118374647C>T"	""	""	""	"KMT2A(NM_001197104.1):c.8040C>T (p.(Asp2680=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000690953"	"0"	"30"	"11"	"118375257"	"118375257"	"subst"	"0.00126346"	"01943"	"KMT2A_000227"	"g.118375257T>C"	""	""	""	"KMT2A(NM_001197104.1):c.8650T>C (p.L2884=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690954"	"0"	"30"	"11"	"118376740"	"118376740"	"subst"	"6.09271E-5"	"02326"	"KMT2A_000075"	"g.118376740T>C"	""	""	""	"KMT2A(NM_001197104.1):c.10133T>C (p.I3378T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690955"	"0"	"30"	"11"	"118376816"	"118376816"	"subst"	"0.00213585"	"01804"	"KMT2A_000228"	"g.118376816G>A"	""	""	""	"KMT2A(NM_001197104.1):c.10209G>A (p.(Pro3403=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690956"	"0"	"50"	"11"	"118376922"	"118376922"	"subst"	"1.62468E-5"	"01943"	"KMT2A_000229"	"g.118376922G>A"	""	""	""	"KMT2A(NM_001197104.1):c.10315G>A (p.G3439S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000694230"	"0"	"90"	"11"	"118307508"	"118307508"	"subst"	"0"	"00006"	"KMT2A_000230"	"g.118307508C>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118436793C>A"	""	"pathogenic"	"ACMG"
"0000694231"	"0"	"90"	"11"	"118344326"	"118344326"	"subst"	"0"	"00006"	"KMT2A_000232"	"g.118344326A>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118473611A>T"	""	"pathogenic"	"ACMG"
"0000694232"	"0"	"90"	"11"	"118344533"	"118344533"	"del"	"0"	"00006"	"KMT2A_000233"	"g.118344533del"	""	"{PMID:Faundes 2018:29276005}"	""	"2657delG"	""	"De novo"	""	""	"0"	""	""	"g.118473818del"	""	"pathogenic"	"ACMG"
"0000694233"	"0"	"90"	"11"	"118344908"	"118344908"	"subst"	"0"	"00006"	"KMT2A_000234"	"g.118344908C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118474193C>T"	""	"pathogenic"	"ACMG"
"0000694234"	"0"	"70"	"11"	"118348685"	"118348685"	"subst"	"0"	"00006"	"KMT2A_000235"	"g.118348685A>G"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118477970A>G"	""	"likely pathogenic"	"ACMG"
"0000694235"	"0"	"70"	"11"	"118348903"	"118348903"	"subst"	"0"	"00006"	"KMT2A_000237"	"g.118348903A>G"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118478188A>G"	""	"likely pathogenic"	"ACMG"
"0000694236"	"0"	"90"	"11"	"118352585"	"118352585"	"subst"	"0"	"00006"	"KMT2A_000060"	"g.118352585C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118481870C>T"	""	"pathogenic"	"ACMG"
"0000694237"	"0"	"90"	"11"	"118352585"	"118352585"	"subst"	"0"	"00006"	"KMT2A_000060"	"g.118352585C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118481870C>T"	""	"pathogenic"	"ACMG"
"0000694238"	"0"	"90"	"11"	"118352604"	"118352604"	"del"	"0"	"00006"	"KMT2A_000238"	"g.118352604del"	""	"{PMID:Faundes 2018:29276005}"	""	"3806delA"	""	"De novo"	""	""	"0"	""	""	"g.118481889del"	""	"pathogenic"	"ACMG"
"0000694239"	"0"	"90"	"11"	"118352671"	"118352671"	"del"	"0"	"00006"	"KMT2A_000239"	"g.118352671del"	""	"{PMID:Faundes 2018:29276005}"	""	"3875delG"	""	"De novo"	""	""	"0"	""	""	"g.118481956del"	""	"pathogenic"	"ACMG"
"0000694240"	"0"	"90"	"11"	"118359327"	"118359327"	"subst"	"0"	"00006"	"KMT2A_000240"	"g.118359327A>C"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118488612A>C"	""	"pathogenic"	"ACMG"
"0000694241"	"0"	"90"	"11"	"118363934"	"118363934"	"del"	"0"	"00006"	"KMT2A_000242"	"g.118363934del"	""	"{PMID:Faundes 2018:29276005}"	""	"5166delT"	""	"De novo"	""	""	"0"	""	""	"g.118493219del"	""	"pathogenic"	"ACMG"
"0000694242"	"0"	"90"	"11"	"118367083"	"118367083"	"subst"	"0"	"00006"	"KMT2A_000243"	"g.118367083G>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118496368G>T"	""	"pathogenic"	"ACMG"
"0000694243"	"0"	"70"	"11"	"118368658"	"118368658"	"subst"	"0"	"00006"	"KMT2A_000244"	"g.118368658G>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118497943G>T"	""	"likely pathogenic"	"ACMG"
"0000694244"	"0"	"90"	"11"	"118370058"	"118370061"	"del"	"0"	"00006"	"KMT2A_000245"	"g.118370058_118370061del"	""	"{PMID:Faundes 2018:29276005}"	""	"5999_6002delTGTT"	""	"De novo"	""	""	"0"	""	""	"g.118499343_118499346del"	""	"pathogenic"	"ACMG"
"0000694245"	"0"	"90"	"11"	"118372446"	"118372446"	"subst"	"0"	"00006"	"KMT2A_000014"	"g.118372446C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118501731C>T"	""	"pathogenic"	"ACMG"
"0000694246"	"0"	"90"	"11"	"118374174"	"118374177"	"del"	"0"	"00006"	"KMT2A_000246"	"g.118374174_118374177del"	""	"{PMID:Faundes 2018:29276005}"	""	"7565_7568delCAGT"	""	"De novo"	""	""	"0"	""	""	"g.118503459_118503462del"	""	"pathogenic"	"ACMG"
"0000694247"	"0"	"90"	"11"	"118374706"	"118374713"	"del"	"0"	"00006"	"KMT2A_000247"	"g.118374706_118374713del"	""	"{PMID:Faundes 2018:29276005}"	""	"8098_8105delCTGGCATC"	""	"De novo"	""	""	"0"	""	""	"g.118503991_118503998del"	""	"pathogenic"	"ACMG"
"0000694248"	"0"	"70"	"11"	"118375184"	"118375184"	"subst"	"0"	"00006"	"KMT2A_000248"	"g.118375184T>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118504469T>A"	""	"likely pathogenic"	"ACMG"
"0000694249"	"0"	"90"	"11"	"118376590"	"118376590"	"dup"	"0"	"00006"	"KMT2A_000249"	"g.118376590dup"	""	"{PMID:Faundes 2018:29276005}"	""	"9982_9983insA"	""	"De novo"	""	""	"0"	""	""	"g.118505875dup"	""	"pathogenic"	"ACMG"
"0000694283"	"11"	"50"	"11"	"118343111"	"118343111"	"subst"	"0"	"00006"	"KMT2A_000231"	"g.118343111G>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.118472396G>A"	""	"VUS"	"ACMG"
"0000694284"	"11"	"50"	"11"	"118348801"	"118348801"	"subst"	"0"	"00006"	"KMT2A_000236"	"g.118348801T>C"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.118478086T>C"	""	"VUS"	"ACMG"
"0000694285"	"11"	"50"	"11"	"118362546"	"118362546"	"subst"	"1.21819E-5"	"00006"	"KMT2A_000241"	"g.118362546G>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.118491831G>A"	""	"VUS"	"ACMG"
"0000694286"	"21"	"50"	"11"	"118391557"	"118391557"	"subst"	"4.06095E-6"	"00006"	"KMT2A_000250"	"g.118391557C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.118520842C>T"	""	"VUS"	"ACMG"
"0000698335"	"0"	"90"	"11"	"118347657"	"118347657"	"subst"	"0"	"00006"	"KMT2A_000251"	"g.118347657G>A"	""	"{PMID:Squeo 2020:32170002}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.118476942G>A"	""	"pathogenic"	"ACMG"
"0000698354"	"0"	"90"	"11"	"118361941"	"118361941"	"dup"	"0"	"00006"	"KMT2A_000252"	"g.118361941dup"	""	"{PMID:Squeo 2020:32170002}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118491226dup"	""	"pathogenic (dominant)"	"ACMG"
"0000704183"	"0"	"90"	"11"	"118376760"	"118376761"	"del"	"0"	"01807"	"KMT2A_000253"	"g.118376760_118376761del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.118506045_118506046del"	""	"pathogenic"	""
"0000708306"	"0"	"50"	"11"	"118380684"	"118380684"	"subst"	"0"	"03779"	"KMT2A_000254"	"g.118380684A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"VUS"	""
"0000710714"	"0"	"50"	"11"	"118344735"	"118344735"	"subst"	"0"	"01164"	"KMT2A_000255"	"g.118344735C>T"	""	""	""	""	"ACMG: PM2, PP2 class 3"	"Germline"	"?"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0000711126"	"0"	"70"	"11"	"118373751"	"118373751"	"subst"	"0"	"01164"	"KMT2A_000010"	"g.118373751C>T"	""	"PMID: 22795537, PMID: 27777327, PMID: 25929198"	""	""	"Class 5 (PVS1, PS2, PM2)"	"De novo"	"?"	""	""	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000723233"	"0"	"30"	"11"	"118342559"	"118342559"	"subst"	"2.04516E-5"	"01943"	"KMT2A_000256"	"g.118342559C>A"	""	""	""	"KMT2A(NM_001197104.1):c.685C>A (p.P229T, p.(Pro229Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723234"	"0"	"90"	"11"	"118343002"	"118343002"	"dup"	"0"	"02329"	"KMT2A_000135"	"g.118343002dup"	""	""	""	"KMT2A(NM_001197104.2):c.1128dupA (p.Q377Tfs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723235"	"0"	"30"	"11"	"118344736"	"118344736"	"subst"	"0"	"01943"	"KMT2A_000257"	"g.118344736A>G"	""	""	""	"KMT2A(NM_001197104.1):c.2862A>G (p.T954=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723236"	"0"	"50"	"11"	"118347554"	"118347554"	"subst"	"4.06157E-6"	"02325"	"KMT2A_000258"	"g.118347554G>C"	""	""	""	"KMT2A(NM_001197104.2):c.3191G>C (p.R1064P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723237"	"0"	"70"	"11"	"118348850"	"118348850"	"subst"	"0"	"02329"	"KMT2A_000058"	"g.118348850G>A"	""	""	""	"KMT2A(NM_001197104.2):c.3503G>A (p.G1168D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000723238"	"0"	"30"	"11"	"118352769"	"118352769"	"subst"	"0.0009354"	"01943"	"KMT2A_000259"	"g.118352769G>A"	""	""	""	"KMT2A(NM_001197104.1):c.3974G>A (p.S1325N, p.(Ser1325Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723239"	"0"	"90"	"11"	"118354982"	"118354982"	"subst"	"0"	"02327"	"KMT2A_000260"	"g.118354982C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723240"	"0"	"50"	"11"	"118360946"	"118360946"	"subst"	"0"	"02329"	"KMT2A_000153"	"g.118360946G>A"	""	""	""	"KMT2A(NM_001197104.1):c.4678G>A (p.A1560T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723241"	"0"	"90"	"11"	"118361930"	"118361930"	"subst"	"0"	"02329"	"KMT2A_000064"	"g.118361930T>A"	""	""	""	"KMT2A(NM_001197104.2):c.4716T>A (p.C1572*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723242"	"0"	"90"	"11"	"118366482"	"118366482"	"subst"	"0"	"02329"	"KMT2A_000097"	"g.118366482C>T"	""	""	""	"KMT2A(NM_001197104.2):c.5431C>T (p.R1811*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723243"	"0"	"90"	"11"	"118366990"	"118366990"	"subst"	"0"	"02327"	"KMT2A_000261"	"g.118366990C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723244"	"0"	"70"	"11"	"118369088"	"118369088"	"subst"	"0"	"02329"	"KMT2A_000158"	"g.118369088T>C"	""	""	""	"KMT2A(NM_001197104.2):c.5806T>C (p.C1936R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000723245"	"0"	"90"	"11"	"118369169"	"118369169"	"subst"	"0"	"01943"	"KMT2A_000192"	"g.118369169C>T"	""	""	""	"KMT2A(NM_001197104.1):c.5887C>T (p.R1963*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723246"	"0"	"90"	"11"	"118372446"	"118372446"	"subst"	"0"	"02329"	"KMT2A_000014"	"g.118372446C>T"	""	""	""	"KMT2A(NM_001197104.2):c.6379C>T (p.R2127*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000723247"	"0"	"50"	"11"	"118373319"	"118373319"	"subst"	"0"	"02329"	"KMT2A_000183"	"g.118373319G>A"	""	""	""	"KMT2A(NM_001197104.1):c.6712G>A (p.(Asp2238Asn), p.D2238N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723248"	"0"	"30"	"11"	"118373790"	"118373790"	"subst"	"0.000448954"	"02326"	"KMT2A_000184"	"g.118373790T>C"	""	""	""	"KMT2A(NM_001197104.1):c.7183T>C (p.S2395P, p.(Ser2395Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723249"	"0"	"30"	"11"	"118375239"	"118375239"	"subst"	"0.000219378"	"01943"	"KMT2A_000262"	"g.118375239C>T"	""	""	""	"KMT2A(NM_001197104.1):c.8632C>T (p.L2878=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723250"	"0"	"50"	"11"	"118375572"	"118375572"	"subst"	"0.000252061"	"02329"	"KMT2A_000072"	"g.118375572G>A"	""	""	""	"KMT2A(NM_001197104.1):c.8965G>A (p.E2989K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723251"	"0"	"50"	"11"	"118376368"	"118376368"	"subst"	"0"	"02329"	"KMT2A_000263"	"g.118376368A>G"	""	""	""	"KMT2A(NM_001197104.1):c.9761A>G (p.N3254S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723252"	"0"	"50"	"11"	"118377030"	"118377030"	"subst"	"0"	"02325"	"KMT2A_000264"	"g.118377030C>T"	""	""	""	"KMT2A(NM_001197104.2):c.10423C>T (p.L3475F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000763194"	"1"	"90"	"11"	"118374174"	"118374177"	"del"	"0"	"00006"	"KMT2A_000246"	"g.118374174_118374177del"	""	"{PMID:Anazi 2017:27431290}"	""	""	"ACMG PVS1, PS2"	"De novo"	""	""	"0"	""	""	"g.118503459_118503462del"	""	"pathogenic"	"ACMG"
"0000794900"	"0"	"50"	"11"	"118343944"	"118343944"	"subst"	"0"	"01164"	"KMT2A_000265"	"g.118343944G>A"	""	""	""	""	"ACMG: PM2_SUP, PP2"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000795668"	"0"	"70"	"11"	"118344501"	"118344504"	"del"	"0"	"00000"	"KMT2A_000266"	"g.118344501_118344504del"	""	"{PMID:Nair 2018:30293248}"	""	"NM_001197104.1:c.2627_2630del; p.Arg876Thrfs"	""	"Unknown"	"?"	""	"0"	""	""	"g.118473786_118473789del"	""	"likely pathogenic"	""
"0000804905"	"0"	"90"	"11"	"118348810"	"118348810"	"subst"	"0"	"02327"	"KMT2A_000267"	"g.118348810T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000804906"	"0"	"70"	"11"	"118355691"	"118355691"	"subst"	"0"	"02327"	"KMT2A_000268"	"g.118355691G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000804907"	"0"	"30"	"11"	"118360900"	"118360900"	"subst"	"0"	"01943"	"KMT2A_000269"	"g.118360900G>A"	""	""	""	"KMT2A(NM_001197104.1):c.4632G>A (p.G1544=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804908"	"0"	"30"	"11"	"118367064"	"118367064"	"subst"	"8.12262E-6"	"01943"	"KMT2A_000270"	"g.118367064T>C"	""	""	""	"KMT2A(NM_001197104.1):c.5646T>C (p.Y1882=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804909"	"0"	"30"	"11"	"118370593"	"118370593"	"subst"	"3.65601E-5"	"02326"	"KMT2A_000271"	"g.118370593C>T"	""	""	""	"KMT2A(NM_001197104.1):c.6123C>T (p.S2041=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804910"	"0"	"30"	"11"	"118373765"	"118373765"	"subst"	"0"	"01943"	"KMT2A_000272"	"g.118373765A>C"	""	""	""	"KMT2A(NM_001197104.1):c.7158A>C (p.T2386=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804911"	"0"	"30"	"11"	"118373835"	"118373835"	"subst"	"3.25749E-5"	"02326"	"KMT2A_000273"	"g.118373835A>G"	""	""	""	"KMT2A(NM_001197104.1):c.7228A>G (p.M2410V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804912"	"0"	"50"	"11"	"118374654"	"118374654"	"subst"	"4.06207E-6"	"02325"	"KMT2A_000274"	"g.118374654T>C"	""	""	""	"KMT2A(NM_001197104.2):c.8047T>C (p.Y2683H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804913"	"0"	"30"	"11"	"118374815"	"118374815"	"subst"	"0"	"01943"	"KMT2A_000275"	"g.118374815A>C"	""	""	""	"KMT2A(NM_001197104.1):c.8208A>C (p.T2736=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804914"	"0"	"30"	"11"	"118375304"	"118375304"	"subst"	"3.65669E-5"	"02326"	"KMT2A_000276"	"g.118375304A>G"	""	""	""	"KMT2A(NM_001197104.1):c.8697A>G (p.V2899=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804915"	"0"	"50"	"11"	"118375758"	"118375758"	"subst"	"0"	"02325"	"KMT2A_000277"	"g.118375758C>G"	""	""	""	"KMT2A(NM_001197104.2):c.9151C>G (p.P3051A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804916"	"0"	"30"	"11"	"118377154"	"118377154"	"subst"	"0.000251811"	"01943"	"KMT2A_000078"	"g.118377154G>A"	""	""	""	"KMT2A(NM_001197104.1):c.10547G>A (p.G3516E, p.(Gly3516Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804917"	"0"	"30"	"11"	"118390328"	"118390330"	"del"	"0"	"01943"	"TTC36_000006"	"g.118390328_118390330del"	""	""	""	"KMT2A(NM_001197104.1):c.11147-5_11147-3delTCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852776"	"0"	"90"	"11"	"118307487"	"118307487"	"subst"	"0"	"02327"	"KMT2A_000278"	"g.118307487C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000852777"	"0"	"30"	"11"	"118344431"	"118344431"	"subst"	"2.85724E-5"	"01943"	"KMT2A_000281"	"g.118344431A>G"	""	""	""	"KMT2A(NM_001197104.1):c.2557A>G (p.K853E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852778"	"0"	"30"	"11"	"118344665"	"118344665"	"subst"	"1.21855E-5"	"01943"	"KMT2A_000282"	"g.118344665A>G"	""	""	""	"KMT2A(NM_001197104.1):c.2791A>G (p.T931A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852779"	"0"	"30"	"11"	"118373505"	"118373505"	"subst"	"0"	"01943"	"KMT2A_000285"	"g.118373505G>C"	""	""	""	"KMT2A(NM_001197104.1):c.6898G>C (p.V2300L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852780"	"0"	"30"	"11"	"118375772"	"118375772"	"subst"	"7.71536E-5"	"01943"	"KMT2A_000286"	"g.118375772T>C"	""	""	""	"KMT2A(NM_001197104.1):c.9165T>C (p.D3055=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852781"	"0"	"90"	"11"	"118390745"	"118390745"	"dup"	"0"	"02327"	"TTC36_000007"	"g.118390745dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000852782"	"0"	"30"	"11"	"118391607"	"118391607"	"subst"	"0.000598047"	"01943"	"TTC36_000008"	"g.118391607C>T"	""	""	""	"KMT2A(NM_001197104.1):c.11513+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852783"	"0"	"30"	"11"	"118392887"	"118392887"	"subst"	"0"	"01943"	"TTC36_000010"	"g.118392887A>G"	""	""	""	"KMT2A(NM_001197104.1):c.11919A>G (p.*3973=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862320"	"0"	"30"	"11"	"118343590"	"118343590"	"subst"	"0.000706892"	"01943"	"KMT2A_000279"	"g.118343590G>T"	""	""	""	"KMT2A(NM_001197104.1):c.1716G>T (p.L572=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862321"	"0"	"50"	"11"	"118343936"	"118343936"	"subst"	"2.86514E-5"	"01943"	"KMT2A_000280"	"g.118343936T>G"	""	""	""	"KMT2A(NM_001197104.1):c.2062T>G (p.F688V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862322"	"0"	"30"	"11"	"118347591"	"118347591"	"subst"	"0.000255838"	"01943"	"KMT2A_000283"	"g.118347591T>C"	""	""	""	"KMT2A(NM_001197104.1):c.3228T>C (p.A1076=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862323"	"0"	"50"	"11"	"118348760"	"118348760"	"subst"	"0"	"02325"	"KMT2A_000057"	"g.118348760A>G"	""	""	""	"KMT2A(NM_001197104.2):c.3413A>G (p.N1138S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862324"	"0"	"50"	"11"	"118366596"	"118366596"	"subst"	"2.09938E-5"	"01943"	"KMT2A_000284"	"g.118366596C>A"	""	""	""	"KMT2A(NM_001197104.1):c.5545C>A (p.P1849T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862325"	"0"	"90"	"11"	"118376222"	"118376225"	"del"	"0"	"02329"	"KMT2A_000287"	"g.118376222_118376225del"	""	""	""	"KMT2A(NM_001197104.2):c.9615_9618delCCAG (p.S3205Rfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000862326"	"0"	"30"	"11"	"118377025"	"118377025"	"subst"	"8.1213E-6"	"01943"	"KMT2A_000166"	"g.118377025G>A"	""	""	""	"KMT2A(NM_001197104.1):c.10418G>A (p.R3473H, p.(Arg3473His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862327"	"0"	"30"	"11"	"118377353"	"118377353"	"subst"	"0.000662877"	"01943"	"KMT2A_000288"	"g.118377353A>T"	""	""	""	"KMT2A(NM_001197104.1):c.10746A>T (p.S3582=), KMT2A(NM_001197104.2):c.10746A>T (p.(Ser3582=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862328"	"0"	"50"	"11"	"118380738"	"118380738"	"subst"	"4.06504E-5"	"01943"	"KMT2A_000289"	"g.118380738G>T"	""	""	""	"KMT2A(NM_001197104.1):c.10976G>T (p.R3659L, p.(Arg3659Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862329"	"0"	"50"	"11"	"118392110"	"118392110"	"subst"	"4.06081E-6"	"02329"	"TTC36_000009"	"g.118392110G>A"	""	""	""	"KMT2A(NM_001197104.1):c.11621G>A (p.R3874Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000868330"	"0"	"90"	"11"	"118369217"	"118369217"	"subst"	"0"	"03555"	"KMT2A_000290"	"g.118369217C>T"	""	"{PMID:Giangiobbe 2020:33043602}, {DOI:Giangiobbe 2020:10.1002/ajmg.a.61859}"	""	"5812C>T (R1938*)"	"variant description corrected by submitter"	"De novo"	""	""	"0"	""	""	"g.118498502C>T"	""	"pathogenic (dominant)"	""
"0000889643"	"0"	"50"	"11"	"118344671"	"118344671"	"subst"	"2.43829E-5"	"02325"	"KMT2A_000056"	"g.118344671C>T"	""	""	""	"KMT2A(NM_001197104.1):c.2797C>T (p.(Arg933Trp)), KMT2A(NM_001197104.2):c.2797C>T (p.R933W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889644"	"0"	"70"	"11"	"118345032"	"118345032"	"subst"	"0"	"02327"	"KMT2A_000291"	"g.118345032T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000889645"	"0"	"50"	"11"	"118354977"	"118354977"	"subst"	"4.06134E-6"	"02325"	"KMT2A_000292"	"g.118354977C>T"	""	""	""	"KMT2A(NM_001197104.2):c.4166C>T (p.S1389F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889646"	"0"	"70"	"11"	"118355031"	"118355031"	"subst"	"0"	"02327"	"KMT2A_000293"	"g.118355031T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000889648"	"0"	"30"	"11"	"118366991"	"118366991"	"subst"	"4.87397E-5"	"02325"	"KMT2A_000295"	"g.118366991G>A"	""	""	""	"KMT2A(NM_001197104.1):c.5573G>A (p.(Arg1858Gln)), KMT2A(NM_001197104.2):c.5573G>A (p.R1858Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000889649"	"0"	"50"	"11"	"118369240"	"118369240"	"subst"	"0"	"02329"	"KMT2A_000296"	"g.118369240C>T"	""	""	""	"KMT2A(NM_001197104.1):c.5958C>T (p.G1986=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889650"	"0"	"90"	"11"	"118374792"	"118374793"	"del"	"0"	"02326"	"KMT2A_000297"	"g.118374792_118374793del"	""	""	""	"KMT2A(NM_001197104.1):c.8185_8186delAG (p.S2729*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000889651"	"0"	"50"	"11"	"118375759"	"118375759"	"subst"	"0"	"02325"	"KMT2A_000298"	"g.118375759C>T"	""	""	""	"KMT2A(NM_001197104.2):c.9152C>T (p.P3051L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889652"	"0"	"50"	"11"	"118376788"	"118376788"	"subst"	"2.8471E-5"	"02325"	"KMT2A_000299"	"g.118376788G>A"	""	""	""	"KMT2A(NM_001197104.2):c.10181G>A (p.G3394E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913507"	"0"	"90"	"11"	"118343469"	"118343469"	"subst"	"0"	"02327"	"KMT2A_000300"	"g.118343469C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000913508"	"0"	"70"	"11"	"118343918"	"118343918"	"del"	"0"	"02327"	"KMT2A_000301"	"g.118343918del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000913509"	"0"	"50"	"11"	"118350932"	"118350932"	"subst"	"4.06263E-6"	"02325"	"KMT2A_000121"	"g.118350932T>C"	""	""	""	"KMT2A(NM_001197104.2):c.3613T>C (p.Y1205H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913510"	"0"	"50"	"11"	"118362611"	"118362611"	"subst"	"0.000117811"	"02325"	"KMT2A_000302"	"g.118362611C>G"	""	""	""	"KMT2A(NM_001197104.1):c.4972C>G (p.(Arg1658Gly)), KMT2A(NM_001197104.2):c.4972C>G (p.R1658G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913511"	"0"	"50"	"11"	"118365473"	"118365473"	"subst"	"4.06749E-6"	"02329"	"KMT2A_000303"	"g.118365473T>C"	""	""	""	"KMT2A(NM_001197104.1):c.5354T>C (p.V1785A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913512"	"0"	"30"	"11"	"118370007"	"118370007"	"subst"	"2.43716E-5"	"02326"	"KMT2A_000304"	"g.118370007T>G"	""	""	""	"KMT2A(NM_001197104.1):c.5962-11T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913513"	"0"	"30"	"11"	"118374590"	"118374590"	"subst"	"9.34944E-5"	"02325"	"KMT2A_000305"	"g.118374590G>C"	""	""	""	"KMT2A(NM_001197104.2):c.7983G>C (p.K2661N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925325"	"0"	"90"	"11"	"118344404"	"118344404"	"subst"	"0"	"02327"	"KMT2A_000306"	"g.118344404C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000925326"	"0"	"30"	"11"	"118350957"	"118350957"	"subst"	"0.00010972"	"02326"	"KMT2A_000307"	"g.118350957G>A"	""	""	""	"KMT2A(NM_001197104.1):c.3634+4G>A, KMT2A(NM_001197104.2):c.3634+4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925327"	"0"	"30"	"11"	"118373313"	"118373313"	"subst"	"4.06686E-6"	"02326"	"KMT2A_000308"	"g.118373313G>A"	""	""	""	"KMT2A(NM_001197104.1):c.6706G>A (p.A2236T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000927673"	"0"	"50"	"11"	"118343207"	"118343207"	"subst"	"0"	"03779"	"KMT2A_000309"	"g.118343207T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000929805"	"0"	"50"	"11"	"118344948"	"118344948"	"subst"	"8.12559E-6"	"02325"	"KMT2A_000310"	"g.118344948G>A"	""	""	""	"KMT2A(NM_001197104.2):c.3074G>A (p.S1025N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929806"	"0"	"90"	"11"	"118365075"	"118365075"	"subst"	"0"	"02327"	"KMT2A_000031"	"g.118365075A>T"	""	""	""	"KMT2A(NM_001197104.1):c.5251A>T (p.K1751*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000935925"	"0"	"90"	"11"	"118362545"	"118362545"	"subst"	"0"	"00006"	"KMT2A_000027"	"g.118362545C>T"	""	"{PMID:Chuan 2022:35571021}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.118491830C>T"	""	"pathogenic (dominant)"	""
"0000939789"	"0"	"70"	"11"	"118362545"	"118362545"	"subst"	"0"	"00006"	"KMT2A_000027"	"g.118362545C>T"	""	"{PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118491830C>T"	""	"likely pathogenic (dominant)"	""
"0000939842"	"0"	"90"	"11"	"118348811"	"118348811"	"subst"	"0"	"00006"	"KMT2A_000311"	"g.118348811G>A"	""	"{PMID:Nambot 2018:29095811}"	""	"NM_005933.3:c.3464G>A"	""	"De novo"	""	""	"0"	""	""	"g.118478096G>A"	""	"pathogenic (dominant)"	""
"0000939853"	"1"	"70"	"11"	"118374790"	"118374793"	"del"	"0"	"00006"	"KMT2A_000312"	"g.118374790_118374793del"	""	"{PMID:Nambot 2018:29095811}"	""	"NM_005933.3:c.8174_8177del"	""	"Germline"	""	""	"0"	""	""	"g.118504075_118504078del"	""	"likely pathogenic (dominant)"	""
"0000949595"	"0"	"50"	"11"	"118342584"	"118342584"	"subst"	"0"	"01804"	"KMT2A_000313"	"g.118342584A>G"	""	""	""	"KMT2A(NM_001197104.1):c.710A>G (p.(His237Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949596"	"0"	"30"	"11"	"118350957"	"118350957"	"subst"	"0.00010972"	"02325"	"KMT2A_000307"	"g.118350957G>A"	""	""	""	"KMT2A(NM_001197104.1):c.3634+4G>A, KMT2A(NM_001197104.2):c.3634+4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949597"	"0"	"30"	"11"	"118373179"	"118373179"	"subst"	"0.000964411"	"01804"	"KMT2A_000314"	"g.118373179G>A"	""	""	""	"KMT2A(NM_001197104.1):c.6572G>A (p.(Arg2191Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949598"	"0"	"30"	"11"	"118377187"	"118377187"	"subst"	"2.03062E-5"	"02327"	"KMT2A_000315"	"g.118377187G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000952297"	"0"	"70"	"11"	"118348889"	"118348889"	"subst"	"0"	"01164"	"KMT2A_000316"	"g.118348889G>T"	""	""	""	""	"ACMG: PP3_MOD, PS2_SUP, PM1_SUP, PM2_SUP, PM5_SUP, PP2 , confirmed de novo in trio exome"	"De novo"	"-"	""	""	""	""	"g.118478174G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000957343"	"0"	"50"	"11"	"118390485"	"118390485"	"subst"	"0"	"03779"	"KMT2A_000317"	"g.118390485G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"VUS"	""
"0000960271"	"0"	"70"	"11"	"118369156"	"118369160"	"del"	"0"	"00006"	"KMT2A_000319"	"g.118369156_118369160del"	""	"{PMID:Poli 2024:38177409}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.118498441_118498445del"	""	"likely pathogenic (dominant)"	""
"0000960295"	"0"	"70"	"11"	"118352651"	"118352651"	"dup"	"0"	"01164"	"KMT2A_000318"	"g.118352651dup"	""	""	""	""	"ACMG: PVS1, PM2_SUP"	"Germline"	"?"	""	""	""	""	"g.118481936dup"	""	"likely pathogenic (dominant)"	"ACMG"
"0000966183"	"0"	"70"	"11"	"118352519"	"118352519"	"subst"	"0"	"01943"	"KMT2A_000320"	"g.118352519C>T"	""	""	""	"KMT2A(NM_001197104.1):c.3724C>T (p.Q1242*), KMT2A(NM_005933.3):c.3724C>T (p.Q1242*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000966184"	"0"	"90"	"11"	"118352585"	"118352585"	"subst"	"0"	"02325"	"KMT2A_000060"	"g.118352585C>T"	""	""	""	"KMT2A(NM_001197104.2):c.3790C>T (p.R1264*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000966186"	"0"	"90"	"11"	"118355030"	"118355030"	"subst"	"0"	"02325"	"KMT2A_000321"	"g.118355030G>T"	""	""	""	"KMT2A(NM_001197104.2):c.4218+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000966187"	"0"	"50"	"11"	"118359443"	"118359443"	"subst"	"0"	"02325"	"KMT2A_000322"	"g.118359443C>T"	""	""	""	"KMT2A(NM_001197104.2):c.4447C>T (p.H1483Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000966189"	"0"	"90"	"11"	"118375462"	"118375462"	"dup"	"0"	"02327"	"KMT2A_000323"	"g.118375462dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000966192"	"0"	"50"	"11"	"118376004"	"118376004"	"subst"	"0"	"02327"	"KMT2A_000325"	"g.118376004A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000966193"	"0"	"50"	"11"	"118376704"	"118376704"	"subst"	"0"	"01804"	"KMT2A_000326"	"g.118376704C>A"	""	""	""	"KMT2A(NM_001197104.1):c.10097C>A (p.(Thr3366Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000966194"	"0"	"30"	"11"	"118377355"	"118377355"	"subst"	"8.72425E-6"	"02327"	"KMT2A_000327"	"g.118377355G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000972390"	"0"	"70"	"11"	"118355016"	"118355016"	"subst"	"0"	"04169"	"KMT2A_000328"	"g.118355016G>T"	"Absent"	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.118484301G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000979375"	"0"	"50"	"11"	"118342709"	"118342709"	"subst"	"0"	"01804"	"KMT2A_000329"	"g.118342709T>C"	""	""	""	"KMT2A(NM_001197104.2):c.835T>C (p.(Ser279Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979376"	"0"	"30"	"11"	"118343067"	"118343067"	"subst"	"5.69268E-5"	"02325"	"KMT2A_000330"	"g.118343067A>G"	""	""	""	"KMT2A(NM_001197104.2):c.1193A>G (p.K398R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979377"	"0"	"30"	"11"	"118344275"	"118344275"	"subst"	"4.87936E-5"	"01804"	"KMT2A_000331"	"g.118344275C>T"	""	""	""	"KMT2A(NM_001197104.2):c.2401C>T (p.(His801Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979378"	"0"	"30"	"11"	"118344988"	"118344988"	"subst"	"8.13028E-6"	"01804"	"KMT2A_000332"	"g.118344988G>A"	""	""	""	"KMT2A(NM_001197104.2):c.3114G>A (p.(Glu1038=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979379"	"0"	"50"	"11"	"118347563"	"118347563"	"subst"	"0"	"01804"	"KMT2A_000333"	"g.118347563G>A"	""	""	""	"KMT2A(NM_001197104.2):c.3200G>A (p.(Arg1067Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979380"	"0"	"50"	"11"	"118352444"	"118352449"	"del"	"0"	"02325"	"KMT2A_000334"	"g.118352444_118352449del"	""	""	""	"KMT2A(NM_001197104.2):c.3649_3654delGAGAAA (p.E1217_K1218del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979381"	"0"	"50"	"11"	"118369133"	"118369133"	"subst"	"0"	"02327"	"KMT2A_000335"	"g.118369133A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979382"	"0"	"50"	"11"	"118371743"	"118371743"	"subst"	"4.06861E-6"	"01804"	"KMT2A_000336"	"g.118371743G>A"	""	""	""	"KMT2A(NM_001197104.2):c.6200G>A (p.(Arg2067His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979383"	"0"	"50"	"11"	"118376102"	"118376102"	"subst"	"4.06303E-6"	"01804"	"KMT2A_000337"	"g.118376102A>C"	""	""	""	"KMT2A(NM_001197104.2):c.9495A>C (p.(Leu3165Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979384"	"0"	"90"	"11"	"118377298"	"118377310"	"dup"	"0"	"02329"	"KMT2A_000338"	"g.118377298_118377310dup"	""	""	""	"KMT2A(NM_001197104.2):c.10691_10703dupGGACCAGTTCTTC (p.E3569Dfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000979385"	"0"	"30"	"11"	"118379841"	"118379841"	"subst"	"0"	"01804"	"KMT2A_000339"	"g.118379841T>C"	""	""	""	"KMT2A(NM_001197104.2):c.10836-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000985112"	"0"	"70"	"11"	"118355691"	"118355691"	"subst"	"0"	"01164"	"KMT2A_000268"	"g.118355691G>A"	""	""	""	""	"ACMG: PVS1_STR, PS2_SUP, PM2_SUP; confirmed de novo, predicted in-frame ex10 skipping, ex 10 codes for large part of \"zinc finger\" domain, regarded to be critical for protein function"	"De novo"	"-"	""	"0"	""	""	"g.118484976G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000985326"	"0"	"70"	"11"	"118348681"	"118348681"	"subst"	"0"	"03544"	"KMT2A_000340"	"g.118348681G>C"	""	""	""	""	""	"De novo"	"-"	""	""	""	""	"g.118477966G>C"	""	"likely pathogenic"	"ACMG"
"0000998759"	"0"	"30"	"11"	"118307427"	"118307429"	"dup"	"0"	"01804"	"KMT2A_000341"	"g.118307427_118307429dup"	""	""	""	"KMT2A(NM_001197104.1):c.200_202dupCGG (p.(Ala67dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998760"	"0"	"30"	"11"	"118307463"	"118307463"	"subst"	"0"	"01804"	"KMT2A_000342"	"g.118307463C>A"	""	""	""	"KMT2A(NM_001197104.1):c.236C>A (p.(Ala79Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998761"	"0"	"30"	"11"	"118342490"	"118342490"	"subst"	"2.84629E-5"	"01804"	"KMT2A_000343"	"g.118342490T>C"	""	""	""	"KMT2A(NM_001197104.1):c.616T>C (p.(Ser206Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998762"	"0"	"30"	"11"	"118342559"	"118342559"	"subst"	"2.04516E-5"	"01804"	"KMT2A_000256"	"g.118342559C>A"	""	""	""	"KMT2A(NM_001197104.1):c.685C>A (p.P229T, p.(Pro229Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998763"	"0"	"30"	"11"	"118342866"	"118342866"	"subst"	"0"	"01804"	"KMT2A_000344"	"g.118342866G>C"	""	""	""	"KMT2A(NM_001197104.1):c.992G>C (p.(Arg331Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998764"	"0"	"50"	"11"	"118343010"	"118343010"	"subst"	"0"	"01804"	"KMT2A_000345"	"g.118343010C>G"	""	""	""	"KMT2A(NM_001197104.1):c.1136C>G (p.(Ala379Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998765"	"0"	"50"	"11"	"118344017"	"118344017"	"subst"	"0"	"02327"	"KMT2A_000346"	"g.118344017G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998766"	"0"	"30"	"11"	"118344302"	"118344302"	"subst"	"8.13193E-6"	"01804"	"KMT2A_000347"	"g.118344302G>A"	""	""	""	"KMT2A(NM_001197104.1):c.2428G>A (p.(Ala810Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998767"	"0"	"30"	"11"	"118344387"	"118344387"	"subst"	"0"	"01804"	"KMT2A_000348"	"g.118344387G>C"	""	""	""	"KMT2A(NM_001197104.1):c.2513G>C (p.(Trp838Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998768"	"0"	"30"	"11"	"118344839"	"118344839"	"subst"	"0.000982981"	"01804"	"KMT2A_000349"	"g.118344839C>T"	""	""	""	"KMT2A(NM_001197104.1):c.2965C>T (p.(Leu989Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998769"	"0"	"30"	"11"	"118352490"	"118352490"	"subst"	"0"	"01804"	"KMT2A_000350"	"g.118352490G>C"	""	""	""	"KMT2A(NM_001197104.1):c.3695G>C (p.(Ser1232Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998770"	"0"	"30"	"11"	"118352565"	"118352565"	"subst"	"0"	"01804"	"KMT2A_000351"	"g.118352565G>A"	""	""	""	"KMT2A(NM_001197104.1):c.3770G>A (p.(Ser1257Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998771"	"0"	"30"	"11"	"118352702"	"118352702"	"subst"	"3.25074E-5"	"01804"	"KMT2A_000352"	"g.118352702C>G"	""	""	""	"KMT2A(NM_001197104.1):c.3907C>G (p.(Leu1303Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998772"	"0"	"30"	"11"	"118352718"	"118352718"	"subst"	"0"	"01804"	"KMT2A_000353"	"g.118352718A>G"	""	""	""	"KMT2A(NM_001197104.1):c.3923A>G (p.(Gln1308Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998773"	"0"	"30"	"11"	"118352769"	"118352769"	"subst"	"0.0009354"	"01804"	"KMT2A_000259"	"g.118352769G>A"	""	""	""	"KMT2A(NM_001197104.1):c.3974G>A (p.S1325N, p.(Ser1325Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998774"	"0"	"30"	"11"	"118353178"	"118353178"	"subst"	"4.06303E-6"	"01804"	"KMT2A_000178"	"g.118353178A>G"	""	""	""	"KMT2A(NM_001197104.1):c.4054A>G (p.S1352G, p.(Ser1352Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998775"	"0"	"50"	"11"	"118362033"	"118362033"	"subst"	"4.09145E-6"	"01804"	"KMT2A_000354"	"g.118362033G>A"	""	""	""	"KMT2A(NM_001197104.1):c.4819G>A (p.(Asp1607Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998776"	"0"	"50"	"11"	"118362611"	"118362611"	"subst"	"0.000117811"	"01804"	"KMT2A_000302"	"g.118362611C>G"	""	""	""	"KMT2A(NM_001197104.1):c.4972C>G (p.(Arg1658Gly)), KMT2A(NM_001197104.2):c.4972C>G (p.R1658G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998777"	"0"	"70"	"11"	"118362644"	"118362644"	"subst"	"0"	"01804"	"KMT2A_000355"	"g.118362644G>A"	""	""	""	"KMT2A(NM_001197104.1):c.5004+1G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000998778"	"0"	"30"	"11"	"118363938"	"118363938"	"subst"	"0"	"01804"	"KMT2A_000356"	"g.118363938C>T"	""	""	""	"KMT2A(NM_001197104.1):c.5171C>T (p.(Thr1724Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998779"	"0"	"30"	"11"	"118366991"	"118366991"	"subst"	"4.87397E-5"	"01804"	"KMT2A_000295"	"g.118366991G>A"	""	""	""	"KMT2A(NM_001197104.1):c.5573G>A (p.(Arg1858Gln)), KMT2A(NM_001197104.2):c.5573G>A (p.R1858Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998780"	"0"	"90"	"11"	"118367029"	"118367029"	"subst"	"0"	"02329"	"KMT2A_000357"	"g.118367029G>T"	""	""	""	"KMT2A(NM_001197104.2):c.5611G>T (p.E1871*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000998781"	"0"	"50"	"11"	"118373319"	"118373319"	"subst"	"0"	"01804"	"KMT2A_000183"	"g.118373319G>A"	""	""	""	"KMT2A(NM_001197104.1):c.6712G>A (p.(Asp2238Asn), p.D2238N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998782"	"0"	"30"	"11"	"118373721"	"118373721"	"subst"	"0"	"01804"	"KMT2A_000358"	"g.118373721C>A"	""	""	""	"KMT2A(NM_001197104.1):c.7114C>A (p.(His2372Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998783"	"0"	"50"	"11"	"118373926"	"118373926"	"subst"	"4.06511E-6"	"01804"	"KMT2A_000359"	"g.118373926T>C"	""	""	""	"KMT2A(NM_001197104.1):c.7319T>C (p.(Phe2440Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998784"	"0"	"30"	"11"	"118373953"	"118373953"	"subst"	"4.06319E-6"	"01804"	"KMT2A_000360"	"g.118373953T>C"	""	""	""	"KMT2A(NM_001197104.1):c.7346T>C (p.(Phe2449Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998785"	"0"	"30"	"11"	"118374163"	"118374163"	"subst"	"1.62471E-5"	"01804"	"KMT2A_000361"	"g.118374163G>A"	""	""	""	"KMT2A(NM_001197104.1):c.7556G>A (p.(Arg2519Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998786"	"0"	"50"	"11"	"118374303"	"118374303"	"subst"	"2.43702E-5"	"01804"	"KMT2A_000362"	"g.118374303G>A"	""	""	""	"KMT2A(NM_001197104.1):c.7696G>A (p.(Glu2566Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998787"	"0"	"50"	"11"	"118375813"	"118375813"	"subst"	"0"	"01804"	"KMT2A_000363"	"g.118375813C>A"	""	""	""	"KMT2A(NM_001197104.1):c.9206C>A (p.(Thr3069Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998788"	"0"	"50"	"11"	"118376290"	"118376290"	"subst"	"1.21832E-5"	"02329"	"KMT2A_000364"	"g.118376290G>A"	""	""	""	"KMT2A(NM_001197104.2):c.9683G>A (p.R3228H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998789"	"0"	"50"	"11"	"118376590"	"118376590"	"subst"	"0"	"01804"	"KMT2A_000365"	"g.118376590A>G"	""	""	""	"KMT2A(NM_001197104.1):c.9983A>G (p.(His3328Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998790"	"0"	"50"	"11"	"118376895"	"118376895"	"subst"	"5.68703E-5"	"01804"	"KMT2A_000366"	"g.118376895T>G"	""	""	""	"KMT2A(NM_001197104.1):c.10288T>G (p.(Cys3430Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998791"	"0"	"30"	"11"	"118377114"	"118377114"	"subst"	"4.06322E-6"	"01804"	"KMT2A_000367"	"g.118377114G>C"	""	""	""	"KMT2A(NM_001197104.1):c.10507G>C (p.(Ala3503Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998792"	"0"	"30"	"11"	"118380738"	"118380738"	"subst"	"4.06504E-5"	"01804"	"KMT2A_000289"	"g.118380738G>T"	""	""	""	"KMT2A(NM_001197104.1):c.10976G>T (p.R3659L, p.(Arg3659Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998793"	"0"	"50"	"11"	"118392107"	"118392107"	"subst"	"0"	"01804"	"TTC36_000011"	"g.118392107A>G"	""	""	""	"KMT2A(NM_001197104.1):c.11618A>G (p.(Lys3873Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998794"	"0"	"30"	"11"	"118392124"	"118392124"	"subst"	"0"	"01804"	"TTC36_000012"	"g.118392124G>A"	""	""	""	"KMT2A(NM_001197104.1):c.11635G>A (p.(Asp3879Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001012138"	"0"	"70"	"11"	"118347664"	"118347664"	"subst"	"0"	"01164"	"KMT2A_000174"	"g.118347664C>T"	""	"PMID: 35904121, 35163737, 33057194, 35982159, 31044088, 29574747"	""	""	"ACMG: PVS1, PS2, PM2_SUP"	"De novo"	"-"	""	""	""	""	"g.118476949C>T"	"VCV000280699.11"	"pathogenic (dominant)"	"ACMG"
"0001014756"	"0"	"70"	"11"	"118371710"	"118371710"	"subst"	"0"	"02327"	"KMT2A_000368"	"g.118371710G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001014757"	"0"	"50"	"11"	"118373468"	"118373470"	"del"	"0"	"02325"	"KMT2A_000369"	"g.118373468_118373470del"	""	""	""	"KMT2A(NM_001197104.2):c.6861_6863delATC (p.S2289del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001017591"	"0"	"70"	"11"	"118360935"	"118360936"	"del"	"0"	"03544"	"KMT2A_000371"	"g.118360935_118360936del"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118490220_118490221del"	"{CV:3381762}"	"likely pathogenic"	"ACMG"
"0001017596"	"0"	"70"	"11"	"118344506"	"118344506"	"subst"	"4.1062E-6"	"03544"	"KMT2A_000370"	"g.118344506C>T"	""	""	""	""	""	"De novo"	"-"	"rs1555036661"	"0"	""	""	"g.118473791C>T"	"{CV:3381765}"	"likely pathogenic"	"ACMG"
"0001017816"	"0"	"70"	"11"	"118373785"	"118373785"	"del"	"0"	"03544"	"KMT2A_000372"	"g.118373785del"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118503070del"	"{CV:3383970}"	"likely pathogenic"	"ACMG"
"0001017843"	"0"	"90"	"11"	"118339529"	"118339529"	"dup"	"0"	"03544"	"KMT2A_000373"	"g.118339529dup"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.118468814dup"	"{CV:3383965}"	"pathogenic"	"ACMG"
"0001021294"	"0"	"70"	"11"	"118348808"	"118348808"	"subst"	"0"	"03779"	"KMT2A_000374"	"g.118348808G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1131691799"	"0"	""	""	""	""	"likely pathogenic"	""
"0001022112"	"0"	"50"	"11"	"118374994"	"118374994"	"subst"	"0"	"04796"	"KMT2A_000375"	"g.118374994G>T"	""	""	""	""	"no effect on RNA"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.118504279G>T"	""	"VUS"	""
"0001025912"	"0"	"50"	"11"	"118343384"	"118343384"	"subst"	"0"	"02325"	"KMT2A_000376"	"g.118343384A>T"	""	""	""	"KMT2A(NM_001197104.2):c.1510A>T (p.S504C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001025913"	"0"	"30"	"11"	"118344600"	"118344600"	"subst"	"0.000589163"	"02325"	"KMT2A_000055"	"g.118344600G>A"	""	""	""	"KMT2A(NM_001197104.1):c.2726G>A (p.G909D), KMT2A(NM_001197104.2):c.2726G>A (p.G909D), KMT2A(NM_005933.3):c.2726G>A (p.G909D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025914"	"0"	"90"	"11"	"118369169"	"118369169"	"subst"	"0"	"02327"	"KMT2A_000192"	"g.118369169C>T"	""	""	""	"KMT2A(NM_001197104.1):c.5887C>T (p.R1963*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001027795"	"0"	"90"	"11"	"118370549"	"118370549"	"subst"	"0"	"03779"	"KMT2A_000377"	"g.118370549G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001038232"	"0"	"30"	"11"	"118304093"	"118304093"	"subst"	"0"	"01804"	"KMT2A_000378"	"g.118304093C>T"	""	""	""	"KMT2A(NM_001197104.2):c.-3135C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038233"	"0"	"30"	"11"	"118307385"	"118307385"	"subst"	"0.00292758"	"01804"	"KMT2A_000379"	"g.118307385C>T"	""	""	""	"KMT2A(NM_001197104.2):c.158C>T (p.(Ala53Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038234"	"0"	"50"	"11"	"118307424"	"118307429"	"dup"	"0"	"01804"	"KMT2A_000380"	"g.118307424_118307429dup"	""	""	""	"KMT2A(NM_001197104.2):c.197_202dup (p.(Ala66_Ala67dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038235"	"0"	"50"	"11"	"118343787"	"118343787"	"subst"	"0"	"01804"	"KMT2A_000381"	"g.118343787C>T"	""	""	""	"KMT2A(NM_001197104.2):c.1913C>T (p.(Ala638Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038236"	"0"	"50"	"11"	"118344411"	"118344411"	"subst"	"0"	"01804"	"KMT2A_000382"	"g.118344411A>G"	""	""	""	"KMT2A(NM_001197104.2):c.2537A>G (p.(Glu846Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038237"	"0"	"10"	"11"	"118347654"	"118347654"	"subst"	"0.00432067"	"01804"	"KMT2A_000144"	"g.118347654A>G"	""	""	""	"KMT2A(NM_001197104.2):c.3291A>G (p.(Pro1097=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001038238"	"0"	"30"	"11"	"118347962"	"118347962"	"subst"	"0"	"01804"	"KMT2A_000383"	"g.118347962C>T"	""	""	""	"KMT2A(NM_001197104.2):c.3334+265C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038239"	"0"	"30"	"11"	"118360895"	"118360895"	"subst"	"0"	"01804"	"KMT2A_000384"	"g.118360895A>G"	""	""	""	"KMT2A(NM_001197104.2):c.4627A>G (p.(Lys1543Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038240"	"0"	"50"	"11"	"118365093"	"118365093"	"subst"	"4.07591E-6"	"01804"	"KMT2A_000385"	"g.118365093G>A"	""	""	""	"KMT2A(NM_001197104.2):c.5269G>A (p.(Val1757Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038241"	"0"	"50"	"11"	"118371841"	"118371841"	"subst"	"0"	"02325"	"KMT2A_000386"	"g.118371841C>T"	""	""	""	"KMT2A(NM_001197104.2):c.6298C>T (p.H2100Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038242"	"0"	"50"	"11"	"118372572"	"118372572"	"subst"	"0"	"01804"	"KMT2A_000387"	"g.118372572G>C"	""	""	""	"KMT2A(NM_001197104.2):c.6505G>C (p.(Gly2169Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038243"	"0"	"50"	"11"	"118373760"	"118373760"	"subst"	"0"	"01804"	"KMT2A_000388"	"g.118373760C>T"	""	""	""	"KMT2A(NM_001197104.2):c.7153C>T (p.(His2385Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038244"	"0"	"30"	"11"	"118373862"	"118373862"	"subst"	"0.000105756"	"01804"	"KMT2A_000043"	"g.118373862G>A"	""	""	""	"KMT2A(NM_001197104.2):c.7255G>A (p.(Glu2419Lys), p.E2419K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038245"	"0"	"30"	"11"	"118373862"	"118373862"	"subst"	"0.000105756"	"02325"	"KMT2A_000043"	"g.118373862G>A"	""	""	""	"KMT2A(NM_001197104.2):c.7255G>A (p.(Glu2419Lys), p.E2419K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038246"	"0"	"30"	"11"	"118376562"	"118376562"	"subst"	"1.62435E-5"	"01804"	"KMT2A_000389"	"g.118376562A>G"	""	""	""	"KMT2A(NM_001197104.2):c.9955A>G (p.(Thr3319Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038247"	"0"	"70"	"11"	"118377021"	"118377021"	"subst"	"0"	"01804"	"KMT2A_000390"	"g.118377021C>T"	""	""	""	"KMT2A(NM_001197104.2):c.10414C>T (p.(Gln3472*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001038248"	"0"	"30"	"11"	"118377353"	"118377353"	"subst"	"0.000662877"	"01804"	"KMT2A_000288"	"g.118377353A>T"	""	""	""	"KMT2A(NM_001197104.1):c.10746A>T (p.S3582=), KMT2A(NM_001197104.2):c.10746A>T (p.(Ser3582=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038249"	"0"	"30"	"11"	"118381095"	"118381095"	"subst"	"0"	"01804"	"KMT2A_000391"	"g.118381095C>T"	""	""	""	"KMT2A(NM_001197104.2):c.11071+262C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038250"	"0"	"50"	"11"	"118390432"	"118390432"	"subst"	"3.65453E-5"	"01804"	"TTC36_000013"	"g.118390432G>A"	""	""	""	"KMT2A(NM_001197104.2):c.11246G>A (p.(Arg3749His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038251"	"0"	"50"	"11"	"118391551"	"118391551"	"subst"	"0"	"01804"	"TTC36_000014"	"g.118391551C>T"	""	""	""	"KMT2A(NM_001197104.2):c.11464C>T (p.(Arg3822Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038252"	"0"	"50"	"11"	"118392771"	"118392771"	"subst"	"0"	"01804"	"TTC36_000015"	"g.118392771C>T"	""	""	""	"KMT2A(NM_001197104.2):c.11803C>T (p.(Arg3935Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046286"	"0"	"50"	"11"	"118343855"	"118343855"	"subst"	"8.13114E-6"	"02325"	"KMT2A_000392"	"g.118343855G>A"	""	""	""	"KMT2A(NM_001197104.2):c.1981G>A (p.V661I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046287"	"0"	"90"	"11"	"118362545"	"118362545"	"subst"	"0"	"02327"	"KMT2A_000027"	"g.118362545C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes KMT2A
## Count = 433
"{{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}}"
"0000079301"	"00024085"	"00"	"2659"	"0"	"2659"	"0"	"c.2659G>T"	"r.(?)"	"p.(Glu887*)"	""
"0000079388"	"00024085"	"90"	"6571"	"0"	"6571"	"0"	"c.6571C>T"	"r.(?)"	"p.(Arg2191*)"	""
"0000079555"	"00024085"	"90"	"10357"	"0"	"10357"	"0"	"c.10357dup"	"r.(?)"	"p.(Tyr3453Leufs*22)"	""
"0000079693"	"00024085"	"90"	"2126"	"0"	"2127"	"0"	"c.2126_2127del"	"r.(?)"	"p.(Ser709*)"	""
"0000079698"	"00024085"	"90"	"4087"	"-116"	"5004"	"245"	"c.4087-116_5004+245del"	"r.?"	"p.(Glu1363_Gln1668del)"	"8i_15i"
"0000086465"	"00024085"	"70"	"8806"	"0"	"8809"	"0"	"c.8806_8809del"	"r.(?)"	"p.(Val2936*)"	"27"
"0000086467"	"00024085"	"70"	"8267"	"0"	"8267"	"0"	"c.8267del"	"r.(?)"	"p.(Leu2756*)"	"27"
"0000086469"	"00024085"	"70"	"6913"	"0"	"6913"	"0"	"c.6913del"	"r.(?)"	"p.(Ser2305Leufs*2)"	"27"
"0000086471"	"00024085"	"70"	"7144"	"0"	"7144"	"0"	"c.7144C>T"	"r.(?)"	"p.(Arg2382*)"	"27"
"0000086472"	"00024085"	"70"	"4599"	"0"	"4599"	"0"	"c.4599dup"	"r.(?)"	"p.(Lys1534*)"	"13"
"0000086473"	"00024085"	"70"	"4342"	"0"	"4342"	"0"	"c.4342T>C"	"r.(?)"	"p.(Cys1448Arg)"	"11"
"0000086474"	"00024085"	"90"	"4086"	"1"	"4086"	"1"	"c.4086+1G>A"	"r.spl"	"p.?"	"8i"
"0000086479"	"00024085"	"90"	"433"	"-1"	"4332"	"1"	"c.(432+1_433-1)_(4332+1_4333-1)del"	"r.(del)"	"p.?"	"1i_10i"
"0000086481"	"00024085"	"90"	"6379"	"0"	"6379"	"0"	"c.6379C>T"	"r.(?)"	"p.(Arg2127*)"	"26"
"0000086483"	"00024085"	"90"	"3247"	"0"	"3247"	"0"	"c.3247C>T"	"r.(?)"	"p.(Arg1083*)"	"4"
"0000086485"	"00024085"	"90"	"3247"	"0"	"3247"	"0"	"c.3247C>T"	"r.(?)"	"p.(Arg1083*)"	"4"
"0000086487"	"00024085"	"70"	"7438"	"0"	"7438"	"0"	"c.7438C>T"	"r.(?)"	"p.(Arg2480*)"	"27"
"0000086488"	"00024085"	"70"	"6781"	"0"	"6781"	"0"	"c.6781C>T"	"r.(?)"	"p.(Gln2261*)"	"27"
"0000086490"	"00024085"	"70"	"3566"	"0"	"3566"	"0"	"c.3566G>A"	"r.(?)"	"p.(Cys1189Tyr)"	"5"
"0000086491"	"00024085"	"70"	"1038"	"0"	"1038"	"0"	"c.1038del"	"r.(?)"	"p.(Val347Leufs*53)"	"3"
"0000086492"	"00024085"	"70"	"2148"	"0"	"2148"	"0"	"c.2148del"	"r.(?)"	"p.(Leu717Cysfs*39)"	"3"
"0000086493"	"00024085"	"70"	"2233"	"0"	"2233"	"0"	"c.2233C>T"	"r.(?)"	"p.(Arg745*)"	"3"
"0000086574"	"00024085"	"70"	"838"	"0"	"838"	"0"	"c.838C>A"	"r.(?)"	"p.(Pro280Thr)"	"3"
"0000095138"	"00024085"	"50"	"8407"	"0"	"8407"	"0"	"c.8407C>T"	"r.(?)"	"p.(Gln2803*)"	"27"
"0000095139"	"00024085"	"50"	"2455"	"0"	"2455"	"0"	"c.2455C>T"	"r.(?)"	"p.(Gln819*)"	"3"
"0000128477"	"00024085"	"70"	"3481"	"0"	"3481"	"0"	"c.3481T>G"	"r.(?)"	"p.(Cys1161Gly)"	"5"
"0000128478"	"00024085"	"70"	"4906"	"0"	"4906"	"0"	"c.4906C>T"	"r.(?)"	"p.(Arg1636*)"	"15"
"0000128479"	"00024085"	"70"	"7264"	"0"	"7264"	"0"	"c.7264G>T"	"r.(?)"	"p.(Gly2422*)"	"27"
"0000128480"	"00024085"	"70"	"10344"	"0"	"10344"	"0"	"c.10344del"	"r.(?)"	"p.(Ala3449Glnfs*10)"	"27"
"0000130071"	"00024085"	"70"	"3473"	"0"	"3473"	"0"	"c.3473G>A"	"r.(?)"	"p.(Cys1158Tyr)"	""
"0000130105"	"00024085"	"70"	"5251"	"0"	"5251"	"0"	"c.5251A>T"	"r.(?)"	"p.(Lys1751*)"	""
"0000130214"	"00024085"	"70"	"10780"	"0"	"10780"	"0"	"c.10780C>T"	"r.(?)"	"p.(Gln3594*)"	""
"0000147213"	"00024085"	"90"	"152"	"0"	"186"	"0"	"c.152_186del"	"r.(?)"	"p.(Pro51Argfs*84)"	"1"
"0000171267"	"00024085"	"90"	"3460"	"0"	"3460"	"0"	"c.3460C>T"	"r.(3460c>u)"	"p.(Arg1154Trp)"	"5"
"0000171268"	"00024085"	"90"	"8558"	"0"	"8558"	"0"	"c.8558T>G"	"r.(8558u>g)"	"p.(Met2853Arg)"	"27"
"0000171269"	"00024085"	"90"	"3581"	"0"	"3581"	"0"	"c.3581G>A"	"r.(3581g>a)"	"p.(Cys1194Tyr)"	"6"
"0000171270"	"00024085"	"90"	"11322"	"-1"	"11322"	"-1"	"c.11322-1G>A"	"r.spl?"	"p.(Lys3775Serfs*32)"	"32i"
"0000171461"	"00024085"	"90"	"436"	"0"	"436"	"0"	"c.436G>A"	"r.(436g>a)"	"p.(Glu146Lys)"	"2"
"0000171462"	"00024085"	"10"	"853"	"0"	"853"	"0"	"c.853T>C"	"r.(?)"	"p.(Phe285Leu)"	"3"
"0000171463"	"00024085"	"50"	"2476"	"0"	"2476"	"0"	"c.2476C>T"	"r.(?)"	"p.(Pro826Ser)"	"3"
"0000171464"	"00024085"	"50"	"4052"	"0"	"4052"	"0"	"c.4052C>T"	"r.(4052c>u)"	"p.(Pro1351Leu)"	"8"
"0000171465"	"00024085"	"50"	"4456"	"0"	"4456"	"0"	"c.4456G>A"	"r.(4456g>a)"	"p.(Gly1486Arg)"	"11"
"0000171466"	"00024085"	"50"	"6271"	"0"	"6271"	"0"	"c.6271G>C"	"r.(6271g>c)"	"p.(Glu2091Gln)"	"25"
"0000171467"	"00024085"	"50"	"7255"	"0"	"7255"	"0"	"c.7255G>A"	"r.(7255g>a)"	"p.(Glu2419Lys)"	"27"
"0000171468"	"00024085"	"50"	"8918"	"0"	"8918"	"0"	"c.8918C>G"	"r.(8918c>g)"	"p.(Ser2973Cys)"	"27"
"0000171469"	"00024085"	"50"	"8945"	"0"	"8945"	"0"	"c.8945C>T"	"r.(8945c>u)"	"p.(Pro2982Leu)"	"27"
"0000171470"	"00024085"	"50"	"10604"	"0"	"10604"	"0"	"c.10604G>T"	"r.(10604g>u)"	"p.(Gly3535Val)"	"27"
"0000171471"	"00024085"	"30"	"10690"	"0"	"10690"	"0"	"c.10690C>T"	"r.(?10690c>u)"	"p.(Arg3564Trp)"	"27"
"0000171472"	"00024085"	"50"	"11732"	"0"	"11732"	"0"	"c.11732C>T"	"r.(11732c>u)"	"p.(Ser3911Leu)"	"36"
"0000179018"	"00024085"	"90"	"3334"	"1"	"3334"	"1"	"c.3334+1G>A"	"r.spl"	"p.?"	""
"0000252525"	"00024085"	"90"	"5251"	"0"	"5251"	"0"	"c.5251A>T"	"r.(?)"	"p.(Lys1751Ter)"	""
"0000254541"	"00024085"	"30"	"10318"	"0"	"10318"	"0"	"c.10318A>G"	"r.(?)"	"p.(Ile3440Val)"	""
"0000255130"	"00024085"	"30"	"9642"	"0"	"9642"	"0"	"c.9642A>G"	"r.(?)"	"p.(Val3214=)"	""
"0000255471"	"00024085"	"90"	"4090"	"0"	"4090"	"0"	"c.4090A>T"	"r.(?)"	"p.(Lys1364Ter)"	""
"0000256553"	"00024085"	"50"	"10609"	"0"	"10609"	"0"	"c.10609A>G"	"r.(?)"	"p.(Thr3537Ala)"	""
"0000283498"	"00024085"	"90"	"3790"	"0"	"3790"	"0"	"c.3790C>T"	"r.(?)"	"p.(Arg1264Ter)"	""
"0000283499"	"00024085"	"70"	"4294"	"0"	"4294"	"0"	"c.4294G>T"	"r.(?)"	"p.(Val1432Leu)"	""
"0000285841"	"00024085"	"30"	"6571"	"0"	"6571"	"0"	"c.6571C>A"	"r.(?)"	"p.(Arg2191=)"	""
"0000290419"	"00024085"	"50"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.(?)"	"p.(Gly909Asp)"	""
"0000290420"	"00024085"	"30"	"3801"	"0"	"3801"	"0"	"c.3801C>T"	"r.(?)"	"p.(Val1267=)"	""
"0000290421"	"00024085"	"90"	"4696"	"1"	"4696"	"1"	"c.4696+1G>A"	"r.spl?"	"p.?"	""
"0000290422"	"00024085"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185Ter)"	""
"0000290423"	"00024085"	"30"	"5754"	"0"	"5754"	"0"	"c.5754C>T"	"r.(?)"	"p.(Asp1918=)"	""
"0000290424"	"00024085"	"90"	"9133"	"0"	"9133"	"0"	"c.9133C>T"	"r.(?)"	"p.(Gln3045Ter)"	""
"0000322517"	"00024085"	"30"	"496"	"0"	"496"	"0"	"c.496C>T"	"r.(?)"	"p.(Pro166Ser)"	""
"0000322518"	"00024085"	"50"	"692"	"0"	"692"	"0"	"c.692T>G"	"r.(?)"	"p.(Val231Gly)"	""
"0000322519"	"00024085"	"30"	"2797"	"0"	"2797"	"0"	"c.2797C>T"	"r.(?)"	"p.(Arg933Trp)"	""
"0000322522"	"00024085"	"50"	"5589"	"0"	"5589"	"0"	"c.5589G>T"	"r.(?)"	"p.(Glu1863Asp)"	""
"0000322524"	"00024085"	"30"	"6964"	"0"	"6964"	"0"	"c.6964T>A"	"r.(?)"	"p.(Ser2322Thr)"	""
"0000322525"	"00024085"	"50"	"8806"	"0"	"8809"	"0"	"c.8806_8809del"	"r.(?)"	"p.(Val2936Ter)"	""
"0000322526"	"00024085"	"50"	"8818"	"0"	"8818"	"0"	"c.8818C>T"	"r.(?)"	"p.(Arg2940Trp)"	""
"0000322527"	"00024085"	"50"	"9661"	"0"	"9661"	"0"	"c.9661del"	"r.(?)"	"p.(Leu3221SerfsTer35)"	""
"0000322529"	"00024085"	"50"	"10294"	"0"	"10294"	"0"	"c.10294C>T"	"r.(?)"	"p.(Leu3432Phe)"	""
"0000322531"	"00024085"	"50"	"10547"	"0"	"10547"	"0"	"c.10547G>A"	"r.(?)"	"p.(Gly3516Glu)"	""
"0000322533"	"00024085"	"50"	"10960"	"0"	"10960"	"0"	"c.10960C>T"	"r.(?)"	"p.(Gln3654Ter)"	""
"0000337033"	"00024085"	"30"	"11429"	"19"	"11429"	"19"	"c.11429+19G>A"	"r.(=)"	"p.(=)"	""
"0000339317"	"00024085"	"10"	"4284"	"0"	"4284"	"0"	"c.4284A>C"	"r.(?)"	"p.(Ile1428=)"	""
"0000339318"	"00024085"	"10"	"5679"	"0"	"5679"	"0"	"c.5679A>G"	"r.(?)"	"p.(Leu1893=)"	""
"0000339319"	"00024085"	"10"	"7254"	"0"	"7254"	"0"	"c.7254C>T"	"r.(?)"	"p.(Asn2418=)"	""
"0000341363"	"00024085"	"10"	"89"	"0"	"89"	"0"	"c.89C>G"	"r.(?)"	"p.(Ala30Gly)"	""
"0000341688"	"00024085"	"90"	"3190"	"0"	"3190"	"0"	"c.3190C>T"	"r.(?)"	"p.(Arg1064Ter)"	""
"0000341756"	"00024085"	"90"	"3451"	"0"	"3451"	"0"	"c.3451C>T"	"r.(?)"	"p.(Arg1151Ter)"	""
"0000342109"	"00024085"	"90"	"5431"	"0"	"5431"	"0"	"c.5431C>T"	"r.(?)"	"p.(Arg1811Ter)"	""
"0000342487"	"00024085"	"90"	"8095"	"0"	"8095"	"0"	"c.8095C>T"	"r.(?)"	"p.(Arg2699Ter)"	""
"0000342718"	"00024085"	"30"	"10690"	"0"	"10690"	"0"	"c.10690C>T"	"r.(?)"	"p.(Arg3564Trp)"	""
"0000344246"	"00024085"	"90"	"3567"	"0"	"3567"	"0"	"c.3567C>A"	"r.(?)"	"p.(Cys1189Ter)"	""
"0000344311"	"00024085"	"90"	"6411"	"0"	"6411"	"0"	"c.6411T>A"	"r.(?)"	"p.(Cys2137Ter)"	""
"0000344783"	"00024085"	"90"	"1048"	"0"	"1048"	"0"	"c.1048C>T"	"r.(?)"	"p.(Gln350Ter)"	""
"0000345842"	"00024085"	"70"	"6103"	"0"	"6103"	"0"	"c.6103G>A"	"r.(?)"	"p.(Gly2035Arg)"	""
"0000345980"	"00024085"	"30"	"9391"	"0"	"9391"	"0"	"c.9391G>A"	"r.(?)"	"p.(Gly3131Ser)"	""
"0000346014"	"00024085"	"90"	"10398"	"0"	"10399"	"0"	"c.10398_10399del"	"r.(?)"	"p.(Gly3467AspfsTer7)"	""
"0000346350"	"00024085"	"50"	"3002"	"0"	"3002"	"0"	"c.3002A>G"	"r.(?)"	"p.(His1001Arg)"	""
"0000347462"	"00024085"	"90"	"5794"	"0"	"5794"	"0"	"c.5794A>T"	"r.(?)"	"p.(Lys1932Ter)"	""
"0000347542"	"00024085"	"90"	"10620"	"0"	"10620"	"0"	"c.10620del"	"r.(?)"	"p.(Lys3540AsnfsTer11)"	""
"0000348400"	"00024085"	"50"	"10718"	"0"	"10718"	"0"	"c.10718C>T"	"r.(?)"	"p.(Pro3573Leu)"	""
"0000348667"	"00024085"	"70"	"3455"	"0"	"3455"	"0"	"c.3455C>A"	"r.(?)"	"p.(Ser1152Ter)"	""
"0000348913"	"00024085"	"50"	"8734"	"0"	"8734"	"0"	"c.8734A>G"	"r.(?)"	"p.(Ser2912Gly)"	""
"0000349203"	"00024085"	"90"	"269"	"0"	"269"	"0"	"c.269C>A"	"r.(?)"	"p.(Ser90Ter)"	""
"0000349369"	"00024085"	"30"	"6793"	"0"	"6793"	"0"	"c.6793A>C"	"r.(?)"	"p.(Thr2265Pro)"	""
"0000349696"	"00024085"	"90"	"4421"	"0"	"4421"	"0"	"c.4421G>A"	"r.(?)"	"p.(Trp1474Ter)"	""
"0000349699"	"00024085"	"90"	"4635"	"0"	"4635"	"0"	"c.4635G>C"	"r.(?)"	"p.(Trp1545Cys)"	""
"0000350854"	"00024085"	"90"	"4696"	"1"	"4696"	"1"	"c.4696+1G>T"	"r.spl?"	"p.?"	""
"0000350856"	"00024085"	"30"	"5962"	"-3"	"5962"	"-3"	"c.5962-3A>T"	"r.spl?"	"p.?"	""
"0000356895"	"00024085"	"90"	"3933"	"0"	"3933"	"0"	"c.3933dup"	"r.(?)"	"p.(Thr1312Tyrfs*14)"	""
"0000356911"	"00024085"	"50"	"3613"	"0"	"3613"	"0"	"c.3613T>C"	"r.(?)"	"p.(Tyr1205His)"	""
"0000369808"	"00024085"	"90"	"4189"	"0"	"4189"	"0"	"c.4189G>T"	"r.(?)"	"p.(Gly1397*)"	""
"0000408761"	"00024085"	"90"	"6534"	"0"	"6534"	"0"	"c.6534dup"	"r.(?)"	"p.(Val2179Serfs*5)"	"27"
"0000408772"	"00024085"	"90"	"9682"	"0"	"9682"	"0"	"c.9682del"	"r.(?)"	"p.(Arg3228Valfs*28)"	"27"
"0000438222"	"00024085"	"70"	"5363"	"1"	"5363"	"1"	"c.5363+1del"	"r.spl"	"p.?"	"18i"
"0000438936"	"00024085"	"90"	"10835"	"1"	"10835"	"1"	"c.10835+1G>A"	"r.10755_10835del"	"p.Thr3586_Gly3612del"	"27i_28i"
"0000443909"	"00024085"	"90"	"1167"	"0"	"1167"	"0"	"c.1167del"	"r.(?)"	"p.(Glu390Lysfs*10)"	"3"
"0000542561"	"00024085"	"50"	"23"	"0"	"23"	"0"	"c.23G>C"	"r.(?)"	"p.(Arg8Pro)"	""
"0000542562"	"00024085"	"30"	"89"	"0"	"89"	"0"	"c.89C>G"	"r.(?)"	"p.(Ala30Gly)"	""
"0000542563"	"00024085"	"30"	"260"	"0"	"260"	"0"	"c.260C>T"	"r.(?)"	"p.(Ser87Leu)"	""
"0000542564"	"00024085"	"30"	"488"	"0"	"488"	"0"	"c.488C>G"	"r.(?)"	"p.(Thr163Arg)"	""
"0000542565"	"00024085"	"30"	"642"	"0"	"642"	"0"	"c.642T>C"	"r.(?)"	"p.(Asp214=)"	""
"0000542568"	"00024085"	"30"	"1504"	"0"	"1504"	"0"	"c.1504G>A"	"r.(?)"	"p.(Glu502Lys)"	""
"0000542569"	"00024085"	"30"	"1504"	"0"	"1504"	"0"	"c.1504G>A"	"r.(?)"	"p.(Glu502Lys)"	""
"0000542570"	"00024085"	"30"	"1519"	"0"	"1519"	"0"	"c.1519C>T"	"r.(?)"	"p.(Pro507Ser)"	""
"0000542571"	"00024085"	"90"	"1585"	"0"	"1585"	"0"	"c.1585A>T"	"r.(?)"	"p.(Arg529Ter)"	""
"0000542572"	"00024085"	"90"	"2318"	"0"	"2318"	"0"	"c.2318dup"	"r.(?)"	"p.(Ser774ValfsTer12)"	""
"0000542575"	"00024085"	"30"	"2825"	"0"	"2825"	"0"	"c.2825G>A"	"r.(?)"	"p.(Gly942Glu)"	""
"0000542577"	"00024085"	"10"	"3291"	"0"	"3291"	"0"	"c.3291A>G"	"r.(?)"	"p.(Pro1097=)"	""
"0000542578"	"00024085"	"90"	"3334"	"1"	"3334"	"1"	"c.3334+1G>A"	"r.spl?"	"p.?"	""
"0000542579"	"00024085"	"30"	"3386"	"0"	"3386"	"0"	"c.3386T>C"	"r.(?)"	"p.(Ile1129Thr)"	""
"0000542580"	"00024085"	"50"	"3656"	"0"	"3656"	"0"	"c.3656A>G"	"r.(?)"	"p.(Lys1219Arg)"	""
"0000542581"	"00024085"	"50"	"3998"	"0"	"3998"	"0"	"c.3998C>T"	"r.(?)"	"p.(Pro1333Leu)"	""
"0000542583"	"00024085"	"30"	"4086"	"8"	"4086"	"8"	"c.4086+8G>C"	"r.(=)"	"p.(=)"	""
"0000542584"	"00024085"	"30"	"4254"	"0"	"4254"	"0"	"c.4254A>T"	"r.(?)"	"p.(Gly1418=)"	""
"0000542585"	"00024085"	"70"	"4426"	"0"	"4426"	"0"	"c.4426T>G"	"r.(?)"	"p.(Cys1476Gly)"	""
"0000542586"	"00024085"	"70"	"4542"	"0"	"4542"	"0"	"c.4542C>A"	"r.(?)"	"p.(Tyr1514Ter)"	""
"0000542588"	"00024085"	"50"	"4696"	"3"	"4696"	"3"	"c.4696+3A>G"	"r.spl?"	"p.?"	""
"0000542589"	"00024085"	"30"	"4758"	"0"	"4758"	"0"	"c.4758G>A"	"r.(?)"	"p.(Met1586Ile)"	""
"0000542590"	"00024085"	"30"	"5289"	"5"	"5289"	"5"	"c.5289+5A>G"	"r.spl?"	"p.?"	""
"0000542592"	"00024085"	"70"	"5558"	"-2"	"5558"	"-2"	"c.5558-2A>G"	"r.spl?"	"p.?"	""
"0000542594"	"00024085"	"50"	"6075"	"0"	"6075"	"0"	"c.6075G>A"	"r.(?)"	"p.(Met2025Ile)"	""
"0000542595"	"00024085"	"30"	"6492"	"0"	"6492"	"0"	"c.6492G>A"	"r.(?)"	"p.(Pro2164=)"	""
"0000542596"	"00024085"	"50"	"6850"	"0"	"6850"	"0"	"c.6850G>T"	"r.(?)"	"p.(Asp2284Tyr)"	""
"0000542597"	"00024085"	"30"	"7329"	"0"	"7329"	"0"	"c.7329G>C"	"r.(?)"	"p.(Lys2443Asn)"	""
"0000542598"	"00024085"	"50"	"9455"	"0"	"9455"	"0"	"c.9455C>T"	"r.(?)"	"p.(Ala3152Val)"	""
"0000542599"	"00024085"	"70"	"9833"	"0"	"9833"	"0"	"c.9833del"	"r.(?)"	"p.(Asn3278IlefsTer12)"	""
"0000542601"	"00024085"	"30"	"10418"	"0"	"10418"	"0"	"c.10418G>A"	"r.(?)"	"p.(Arg3473His)"	""
"0000542602"	"00024085"	"30"	"10441"	"0"	"10441"	"0"	"c.10441C>A"	"r.(?)"	"p.(Pro3481Thr)"	""
"0000542603"	"00024085"	"30"	"10475"	"0"	"10475"	"0"	"c.10475C>T"	"r.(?)"	"p.(Ala3492Val)"	""
"0000542604"	"00024085"	"70"	"10536"	"0"	"10536"	"0"	"c.10536del"	"r.(?)"	"p.(Thr3513ProfsTer38)"	""
"0000542605"	"00024085"	"30"	"10850"	"0"	"10850"	"0"	"c.10850T>C"	"r.(?)"	"p.(Leu3617Pro)"	""
"0000542606"	"00024085"	"30"	"10850"	"0"	"10850"	"0"	"c.10850T>C"	"r.(?)"	"p.(Leu3617Pro)"	""
"0000542607"	"00024085"	"70"	"10901"	"-1"	"10901"	"-1"	"c.10901-1G>T"	"r.spl?"	"p.?"	""
"0000542609"	"00024085"	"50"	"11245"	"0"	"11245"	"0"	"c.11245C>T"	"r.(?)"	"p.(Arg3749Cys)"	""
"0000542610"	"00024085"	"30"	"11505"	"0"	"11505"	"0"	"c.11505T>G"	"r.(?)"	"p.(Gly3835=)"	""
"0000542611"	"00024085"	"50"	"11836"	"0"	"11836"	"0"	"c.11836G>A"	"r.(?)"	"p.(Asp3946Asn)"	""
"0000613077"	"00024085"	"70"	"1918"	"0"	"1939"	"0"	"c.1918_1939del"	"r.(?)"	"p.(Glu640TyrfsTer10)"	""
"0000613078"	"00024085"	"90"	"3301"	"0"	"3301"	"0"	"c.3301C>T"	"r.(?)"	"p.(Arg1101Ter)"	""
"0000613079"	"00024085"	"90"	"3375"	"0"	"3375"	"0"	"c.3375del"	"r.(?)"	"p.(Ala1126LeufsTer21)"	""
"0000613080"	"00024085"	"50"	"4054"	"0"	"4054"	"0"	"c.4054A>G"	"r.(?)"	"p.(Ser1352Gly)"	""
"0000613081"	"00024085"	"30"	"5043"	"0"	"5043"	"0"	"c.5043G>C"	"r.(?)"	"p.(Glu1681Asp)"	""
"0000613082"	"00024085"	"70"	"5708"	"0"	"5708"	"0"	"c.5708A>G"	"r.(?)"	"p.(His1903Arg)"	""
"0000613083"	"00024085"	"90"	"6445"	"0"	"6445"	"0"	"c.6445C>T"	"r.(?)"	"p.(Arg2149Ter)"	""
"0000613084"	"00024085"	"30"	"7183"	"0"	"7183"	"0"	"c.7183T>C"	"r.(?)"	"p.(Ser2395Pro)"	""
"0000613085"	"00024085"	"50"	"9400"	"0"	"9400"	"0"	"c.9400C>T"	"r.(?)"	"p.(Leu3134Phe)"	""
"0000622558"	"00024085"	"30"	"3684"	"0"	"3684"	"0"	"c.3684C>T"	"r.(?)"	"p.(Ser1228=)"	""
"0000622559"	"00024085"	"90"	"3922"	"0"	"3922"	"0"	"c.3922C>T"	"r.(?)"	"p.(Gln1308Ter)"	""
"0000622560"	"00024085"	"30"	"4086"	"8"	"4086"	"8"	"c.4086+8G>C"	"r.(=)"	"p.(=)"	""
"0000622561"	"00024085"	"50"	"6584"	"0"	"6584"	"0"	"c.6584C>A"	"r.(?)"	"p.(Ser2195Tyr)"	""
"0000622563"	"00024085"	"30"	"10850"	"0"	"10850"	"0"	"c.10850T>C"	"r.(?)"	"p.(Leu3617Pro)"	""
"0000628268"	"00024085"	"50"	"9962"	"0"	"9962"	"0"	"c.9962C>T"	"r.(?)"	"p.(Thr3321Ile)"	""
"0000630834"	"00024085"	"90"	"553"	"0"	"553"	"0"	"c.553C>T"	"r.(?)"	"p.(Arg185*)"	"3"
"0000630835"	"00024085"	"50"	"1697"	"0"	"1717"	"0"	"c.1697_1717dup"	"r.(?)"	"p.(Leu566_Leu572dup)"	"3"
"0000630836"	"00024085"	"90"	"3596"	"0"	"3596"	"0"	"c.3596G>A"	"r.(?)"	"p.(Trp1199*)"	"6"
"0000630837"	"00024085"	"90"	"3604"	"0"	"3604"	"0"	"c.3604del"	"r.(?)"	"p.(Ser1202Profs*12)"	"6"
"0000630838"	"00024085"	"90"	"3633"	"0"	"3634"	"3"	"c.3633_3634+3del"	"r.spl"	"p.?"	"6"
"0000630839"	"00024085"	"70"	"3902"	"0"	"3905"	"0"	"c.3902_3905dup"	"r.(?)"	"p.(Leu1303Serfs*24)"	"7"
"0000630998"	"00024085"	"70"	"2513"	"0"	"2513"	"0"	"c.2513G>A"	"r.(?)"	"p.(Trp838*)"	""
"0000631940"	"00024085"	"90"	"5887"	"0"	"5887"	"0"	"c.5887C>T"	"r.(?)"	"p.(Arg1963*)"	""
"0000632238"	"00024085"	"70"	"4436"	"0"	"4436"	"0"	"c.4436G>C"	"r.(?)"	"p.(Cys1479Ser)"	""
"0000632239"	"00024085"	"70"	"7187"	"0"	"7191"	"0"	"c.7187_7191dup"	"r.(?)"	"p.(Glu2398Glnfs*10)"	""
"0000632240"	"00024085"	"70"	"7546"	"0"	"7546"	"0"	"c.7546C>T"	"r.(?)"	"p.(Gln2516*)"	""
"0000632241"	"00024085"	"70"	"1588"	"0"	"1588"	"0"	"c.1588dup"	"r.(?)"	"p.(Arg530Lysfs*12)"	""
"0000632242"	"00024085"	"70"	"9857"	"0"	"9858"	"0"	"c.9857_9858del"	"r.(?)"	"p.(Pro3286Glnfs*7)"	""
"0000632243"	"00024085"	"70"	"6637"	"0"	"6637"	"0"	"c.6637del"	"r.(?)"	"p.(Met2213Cysfs*4)"	""
"0000632244"	"00024085"	"90"	"3460"	"0"	"3460"	"0"	"c.3460C>T"	"r.(?)"	"p.(Arg1154Trp)"	""
"0000632245"	"00024085"	"70"	"2318"	"0"	"2318"	"0"	"c.2318dup"	"r.(?)"	"p.(Ser774Valfs*12)"	""
"0000645293"	"00024085"	"90"	"3521"	"0"	"3521"	"0"	"c.3521T>G"	"r.3521u>g"	"p.(Leu1174*)"	""
"0000648112"	"00024085"	"30"	"9391"	"0"	"9391"	"0"	"c.9391G>A"	"r.(?)"	"p.(Gly3131Ser)"	""
"0000656706"	"00024085"	"30"	"2004"	"0"	"2004"	"0"	"c.2004T>G"	"r.(?)"	"p.(Ser668=)"	""
"0000656707"	"00024085"	"50"	"3157"	"0"	"3157"	"0"	"c.3157G>A"	"r.(?)"	"p.(Gly1053Ser)"	""
"0000656708"	"00024085"	"30"	"3639"	"0"	"3639"	"0"	"c.3639G>A"	"r.(?)"	"p.(Val1213=)"	""
"0000656709"	"00024085"	"10"	"4284"	"0"	"4284"	"0"	"c.4284A>C"	"r.(?)"	"p.(Ile1428=)"	""
"0000656710"	"00024085"	"30"	"4701"	"0"	"4701"	"0"	"c.4701C>T"	"r.(?)"	"p.(Asn1567=)"	""
"0000656711"	"00024085"	"10"	"5679"	"0"	"5679"	"0"	"c.5679A>G"	"r.(?)"	"p.(Leu1893=)"	""
"0000656712"	"00024085"	"50"	"6478"	"0"	"6478"	"0"	"c.6478C>A"	"r.(?)"	"p.(Pro2160Thr)"	""
"0000656714"	"00024085"	"30"	"11505"	"0"	"11505"	"0"	"c.11505T>G"	"r.(?)"	"p.(Gly3835=)"	""
"0000659701"	"00024085"	"70"	"6285"	"0"	"6285"	"0"	"c.6285del"	"r.(?)"	"p.(Asn2095Lysfs*26)"	""
"0000665814"	"00024085"	"50"	"881"	"0"	"881"	"0"	"c.881G>T"	"r.(?)"	"p.(Arg294Met)"	""
"0000667534"	"00024085"	"90"	"2255"	"0"	"2255"	"0"	"c.2255dup"	"r.(?)"	"p.(His753Serfs*11)"	""
"0000667535"	"00024085"	"90"	"2262"	"0"	"2262"	"0"	"c.2262del"	"r.(?)"	"p.(Met755*)"	""
"0000667536"	"00024085"	"90"	"2193"	"0"	"2193"	"0"	"c.2193del"	"r.(?)"	"p.(Ser732Profs*24)"	""
"0000667637"	"00024085"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"11i"
"0000667638"	"00024085"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"9i"
"0000667645"	"00024085"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"9i_11i"
"0000668655"	"00024085"	"90"	"3340"	"0"	"3340"	"0"	"c.3340del"	"r.(?)"	"p.(Ser1114HisfsTer33)"	""
"0000674010"	"00024085"	"90"	"10816"	"0"	"10816"	"0"	"c.10816G>T"	"r.(?)"	"p.(Glu3606*)"	""
"0000679065"	"00024085"	"90"	"931"	"0"	"931"	"0"	"c.931del"	"r.(?)"	"p.(Arg311GlyfsTer2)"	""
"0000679066"	"00024085"	"30"	"1509"	"0"	"1509"	"0"	"c.1509G>C"	"r.(?)"	"p.(Arg503=)"	""
"0000679067"	"00024085"	"30"	"2478"	"0"	"2478"	"0"	"c.2478A>G"	"r.(?)"	"p.(Pro826=)"	""
"0000679068"	"00024085"	"30"	"4218"	"20"	"4218"	"20"	"c.4218+20A>G"	"r.(=)"	"p.(=)"	""
"0000679069"	"00024085"	"90"	"5499"	"0"	"5499"	"0"	"c.5499del"	"r.(?)"	"p.(Gly1834ValfsTer19)"	""
"0000679071"	"00024085"	"30"	"10318"	"0"	"10318"	"0"	"c.10318A>G"	"r.(?)"	"p.(Ile3440Val)"	""
"0000679072"	"00024085"	"30"	"11586"	"0"	"11586"	"0"	"c.11586C>T"	"r.(?)"	"p.(Ala3862=)"	""
"0000683258"	"00024085"	"50"	"175"	"0"	"175"	"0"	"c.175G>A"	"r.(?)"	"p.(Ala59Thr)"	""
"0000690947"	"00024085"	"30"	"3477"	"0"	"3477"	"0"	"c.3477C>T"	"r.(?)"	"p.(Pro1159=)"	""
"0000690948"	"00024085"	"30"	"5631"	"0"	"5631"	"0"	"c.5631G>A"	"r.(?)"	"p.(Ala1877=)"	""
"0000690949"	"00024085"	"30"	"7166"	"0"	"7166"	"0"	"c.7166C>A"	"r.(?)"	"p.(Thr2389Asn)"	""
"0000690950"	"00024085"	"30"	"7183"	"0"	"7183"	"0"	"c.7183T>C"	"r.(?)"	"p.(Ser2395Pro)"	""
"0000690951"	"00024085"	"10"	"7689"	"0"	"7689"	"0"	"c.7689A>G"	"r.(?)"	"p.(Ser2563=)"	""
"0000690952"	"00024085"	"10"	"8040"	"0"	"8040"	"0"	"c.8040C>T"	"r.(?)"	"p.(Asp2680=)"	""
"0000690953"	"00024085"	"30"	"8650"	"0"	"8650"	"0"	"c.8650T>C"	"r.(?)"	"p.(Leu2884=)"	""
"0000690954"	"00024085"	"30"	"10133"	"0"	"10133"	"0"	"c.10133T>C"	"r.(?)"	"p.(Ile3378Thr)"	""
"0000690955"	"00024085"	"30"	"10209"	"0"	"10209"	"0"	"c.10209G>A"	"r.(?)"	"p.(Pro3403=)"	""
"0000690956"	"00024085"	"50"	"10315"	"0"	"10315"	"0"	"c.10315G>A"	"r.(?)"	"p.(Gly3439Ser)"	""
"0000694230"	"00024085"	"90"	"281"	"0"	"281"	"0"	"c.281C>A"	"r.(?)"	"p.(Ser94*)"	""
"0000694231"	"00024085"	"90"	"2452"	"0"	"2452"	"0"	"c.2452A>T"	"r.(?)"	"p.(Lys818*)"	""
"0000694232"	"00024085"	"90"	"2659"	"0"	"2659"	"0"	"c.2659del"	"r.(?)"	"p.(Glu887Serfs*62)"	""
"0000694233"	"00024085"	"90"	"3034"	"0"	"3034"	"0"	"c.3034C>T"	"r.(?)"	"p.(Gln1012*)"	""
"0000694234"	"00024085"	"70"	"3338"	"0"	"3338"	"0"	"c.3338A>G"	"r.(?)"	"p.(Lys1113Arg)"	""
"0000694235"	"00024085"	"70"	"3556"	"0"	"3556"	"0"	"c.3556A>G"	"r.(?)"	"p.(Lys1186Glu)"	""
"0000694236"	"00024085"	"90"	"3790"	"0"	"3790"	"0"	"c.3790C>T"	"r.(?)"	"p.(Arg1264*)"	""
"0000694237"	"00024085"	"90"	"3790"	"0"	"3790"	"0"	"c.3790C>T"	"r.(?)"	"p.(Arg1264*)"	""
"0000694238"	"00024085"	"90"	"3809"	"0"	"3809"	"0"	"c.3809del"	"r.(?)"	"p.(Lys1270Argfs*86)"	""
"0000694239"	"00024085"	"90"	"3876"	"0"	"3876"	"0"	"c.3876del"	"r.(?)"	"p.(Lys1293Serfs*63)"	""
"0000694240"	"00024085"	"90"	"4333"	"-2"	"4333"	"-2"	"c.4333-2A>C"	"r.spl"	"p.?"	""
"0000694241"	"00024085"	"90"	"5167"	"0"	"5167"	"0"	"c.5167del"	"r.(?)"	"p.(Tyr1723Thrfs*12)"	""
"0000694242"	"00024085"	"90"	"5664"	"1"	"5664"	"1"	"c.5664+1G>T"	"r.spl"	"p.?"	""
"0000694243"	"00024085"	"70"	"5672"	"0"	"5672"	"0"	"c.5672G>T"	"r.(?)"	"p.(Gly1891Val)"	""
"0000694244"	"00024085"	"90"	"6002"	"0"	"6005"	"0"	"c.6002_6005del"	"r.(?)"	"p.(Phe2001Trpfs*8)"	""
"0000694245"	"00024085"	"90"	"6379"	"0"	"6379"	"0"	"c.6379C>T"	"r.(?)"	"p.(Arg2127*)"	""
"0000694246"	"00024085"	"90"	"7567"	"0"	"7570"	"0"	"c.7567_7570del"	"r.(?)"	"p.(Val2523Lysfs*2)"	""
"0000694247"	"00024085"	"90"	"8099"	"0"	"8106"	"0"	"c.8099_8106del"	"r.(?)"	"p.(Leu2700Profs*2)"	""
"0000694248"	"00024085"	"70"	"8577"	"0"	"8577"	"0"	"c.8577T>A"	"r.(?)"	"p.(Asn2859Lys)"	""
"0000694249"	"00024085"	"90"	"9983"	"0"	"9983"	"0"	"c.9983dup"	"r.(?)"	"p.(His3328Glnfs*31)"	""
"0000694283"	"00024085"	"50"	"1237"	"0"	"1237"	"0"	"c.1237G>A"	"r.(?)"	"p.(Val413Ile)"	""
"0000694284"	"00024085"	"50"	"3454"	"0"	"3454"	"0"	"c.3454T>C"	"r.(?)"	"p.(Ser1152Pro)"	""
"0000694285"	"00024085"	"50"	"4907"	"0"	"4907"	"0"	"c.4907G>A"	"r.(?)"	"p.(Arg1636Gln)"	""
"0000694286"	"00024085"	"50"	"11470"	"0"	"11470"	"0"	"c.11470C>T"	"r.(?)"	"p.(Arg3824Trp)"	""
"0000698335"	"00024085"	"90"	"3294"	"0"	"3294"	"0"	"c.3294G>A"	"r.(?)"	"p.(Trp1098* )"	"4"
"0000698354"	"00024085"	"90"	"4727"	"0"	"4727"	"0"	"c.4727dup"	"r.(?)"	"p.(Tyr1576* )"	"14"
"0000704183"	"00024085"	"90"	"10153"	"0"	"10154"	"0"	"c.10153_10154del"	"r.(?)"	"p.(Leu3385Asnfs*4)"	""
"0000708306"	"00024085"	"50"	"10922"	"0"	"10922"	"0"	"c.10922A>G"	"r.(?)"	"p.(Glu3641Gly)"	""
"0000710714"	"00024085"	"50"	"2861"	"0"	"2861"	"0"	"c.2861C>T"	"r.(?)"	"p.(Thr954Ile)"	""
"0000711126"	"00024085"	"70"	"7144"	"0"	"7144"	"0"	"c.7144C>T"	"r.(?)"	"p.(Arg2382*)"	""
"0000723233"	"00024085"	"30"	"685"	"0"	"685"	"0"	"c.685C>A"	"r.(?)"	"p.(Pro229Thr)"	""
"0000723234"	"00024085"	"90"	"1128"	"0"	"1128"	"0"	"c.1128dup"	"r.(?)"	"p.(Gln377ThrfsTer12)"	""
"0000723235"	"00024085"	"30"	"2862"	"0"	"2862"	"0"	"c.2862A>G"	"r.(?)"	"p.(Thr954=)"	""
"0000723236"	"00024085"	"50"	"3191"	"0"	"3191"	"0"	"c.3191G>C"	"r.(?)"	"p.(Arg1064Pro)"	""
"0000723237"	"00024085"	"70"	"3503"	"0"	"3503"	"0"	"c.3503G>A"	"r.(?)"	"p.(Gly1168Asp)"	""
"0000723238"	"00024085"	"30"	"3974"	"0"	"3974"	"0"	"c.3974G>A"	"r.(?)"	"p.(Ser1325Asn)"	""
"0000723239"	"00024085"	"90"	"4171"	"0"	"4171"	"0"	"c.4171C>T"	"r.(?)"	"p.(Gln1391*)"	""
"0000723240"	"00024085"	"50"	"4678"	"0"	"4678"	"0"	"c.4678G>A"	"r.(?)"	"p.(Ala1560Thr)"	""
"0000723241"	"00024085"	"90"	"4716"	"0"	"4716"	"0"	"c.4716T>A"	"r.(?)"	"p.(Cys1572Ter)"	""
"0000723242"	"00024085"	"90"	"5431"	"0"	"5431"	"0"	"c.5431C>T"	"r.(?)"	"p.(Arg1811Ter)"	""
"0000723243"	"00024085"	"90"	"5572"	"0"	"5572"	"0"	"c.5572C>T"	"r.(?)"	"p.(Arg1858*)"	""
"0000723244"	"00024085"	"70"	"5806"	"0"	"5806"	"0"	"c.5806T>C"	"r.(?)"	"p.(Cys1936Arg)"	""
"0000723245"	"00024085"	"90"	"5887"	"0"	"5887"	"0"	"c.5887C>T"	"r.(?)"	"p.(Arg1963*)"	""
"0000723246"	"00024085"	"90"	"6379"	"0"	"6379"	"0"	"c.6379C>T"	"r.(?)"	"p.(Arg2127Ter)"	""
"0000723247"	"00024085"	"50"	"6712"	"0"	"6712"	"0"	"c.6712G>A"	"r.(?)"	"p.(Asp2238Asn)"	""
"0000723248"	"00024085"	"30"	"7183"	"0"	"7183"	"0"	"c.7183T>C"	"r.(?)"	"p.(Ser2395Pro)"	""
"0000723249"	"00024085"	"30"	"8632"	"0"	"8632"	"0"	"c.8632C>T"	"r.(?)"	"p.(Leu2878=)"	""
"0000723250"	"00024085"	"50"	"8965"	"0"	"8965"	"0"	"c.8965G>A"	"r.(?)"	"p.(Glu2989Lys)"	""
"0000723251"	"00024085"	"50"	"9761"	"0"	"9761"	"0"	"c.9761A>G"	"r.(?)"	"p.(Asn3254Ser)"	""
"0000723252"	"00024085"	"50"	"10423"	"0"	"10423"	"0"	"c.10423C>T"	"r.(?)"	"p.(Leu3475Phe)"	""
"0000763194"	"00024085"	"90"	"7567"	"0"	"7570"	"0"	"c.7567_7570del"	"r.(?)"	"p.(Val2523Lysfs*2)"	""
"0000794900"	"00024085"	"50"	"2070"	"0"	"2070"	"0"	"c.2070G>A"	"r.(?)"	"p.(Met690Ile)"	""
"0000795668"	"00024085"	"70"	"2627"	"0"	"2630"	"0"	"c.2627_2630del"	"r.(?)"	"p.(Arg876Thrfs*72)"	""
"0000804905"	"00024085"	"90"	"3463"	"0"	"3463"	"0"	"c.3463T>C"	"r.(?)"	"p.(Cys1155Arg)"	""
"0000804906"	"00024085"	"70"	"4332"	"1"	"4332"	"1"	"c.4332+1G>A"	"r.spl?"	"p.?"	""
"0000804907"	"00024085"	"30"	"4632"	"0"	"4632"	"0"	"c.4632G>A"	"r.(?)"	"p.(Gly1544=)"	""
"0000804908"	"00024085"	"30"	"5646"	"0"	"5646"	"0"	"c.5646T>C"	"r.(?)"	"p.(Tyr1882=)"	""
"0000804909"	"00024085"	"30"	"6123"	"0"	"6123"	"0"	"c.6123C>T"	"r.(?)"	"p.(Ser2041=)"	""
"0000804910"	"00024085"	"30"	"7158"	"0"	"7158"	"0"	"c.7158A>C"	"r.(?)"	"p.(Thr2386=)"	""
"0000804911"	"00024085"	"30"	"7228"	"0"	"7228"	"0"	"c.7228A>G"	"r.(?)"	"p.(Met2410Val)"	""
"0000804912"	"00024085"	"50"	"8047"	"0"	"8047"	"0"	"c.8047T>C"	"r.(?)"	"p.(Tyr2683His)"	""
"0000804913"	"00024085"	"30"	"8208"	"0"	"8208"	"0"	"c.8208A>C"	"r.(?)"	"p.(Thr2736=)"	""
"0000804914"	"00024085"	"30"	"8697"	"0"	"8697"	"0"	"c.8697A>G"	"r.(?)"	"p.(Val2899=)"	""
"0000804915"	"00024085"	"50"	"9151"	"0"	"9151"	"0"	"c.9151C>G"	"r.(?)"	"p.(Pro3051Ala)"	""
"0000804916"	"00024085"	"30"	"10547"	"0"	"10547"	"0"	"c.10547G>A"	"r.(?)"	"p.(Gly3516Glu)"	""
"0000804917"	"00024085"	"30"	"11147"	"-5"	"11147"	"-3"	"c.11147-5_11147-3del"	"r.spl?"	"p.?"	""
"0000852776"	"00024085"	"90"	"260"	"0"	"260"	"0"	"c.260C>A"	"r.(?)"	"p.(Ser87*)"	""
"0000852777"	"00024085"	"30"	"2557"	"0"	"2557"	"0"	"c.2557A>G"	"r.(?)"	"p.(Lys853Glu)"	""
"0000852778"	"00024085"	"30"	"2791"	"0"	"2791"	"0"	"c.2791A>G"	"r.(?)"	"p.(Thr931Ala)"	""
"0000852779"	"00024085"	"30"	"6898"	"0"	"6898"	"0"	"c.6898G>C"	"r.(?)"	"p.(Val2300Leu)"	""
"0000852780"	"00024085"	"30"	"9165"	"0"	"9165"	"0"	"c.9165T>C"	"r.(?)"	"p.(Asp3055=)"	""
"0000852781"	"00024085"	"90"	"11395"	"0"	"11395"	"0"	"c.11395dup"	"r.(?)"	"p.(Glu3799Glyfs*16)"	""
"0000852782"	"00024085"	"30"	"11513"	"7"	"11513"	"7"	"c.11513+7C>T"	"r.(=)"	"p.(=)"	""
"0000852783"	"00024085"	"30"	"11919"	"0"	"11919"	"0"	"c.11919A>G"	"r.(?)"	"p.(*3973=)"	""
"0000862320"	"00024085"	"30"	"1716"	"0"	"1716"	"0"	"c.1716G>T"	"r.(?)"	"p.(Leu572=)"	""
"0000862321"	"00024085"	"50"	"2062"	"0"	"2062"	"0"	"c.2062T>G"	"r.(?)"	"p.(Phe688Val)"	""
"0000862322"	"00024085"	"30"	"3228"	"0"	"3228"	"0"	"c.3228T>C"	"r.(?)"	"p.(Ala1076=)"	""
"0000862323"	"00024085"	"50"	"3413"	"0"	"3413"	"0"	"c.3413A>G"	"r.(?)"	"p.(Asn1138Ser)"	""
"0000862324"	"00024085"	"50"	"5545"	"0"	"5545"	"0"	"c.5545C>A"	"r.(?)"	"p.(Pro1849Thr)"	""
"0000862325"	"00024085"	"90"	"9615"	"0"	"9618"	"0"	"c.9615_9618del"	"r.(?)"	"p.(Ser3205Argfs*9)"	""
"0000862326"	"00024085"	"30"	"10418"	"0"	"10418"	"0"	"c.10418G>A"	"r.(?)"	"p.(Arg3473His)"	""
"0000862327"	"00024085"	"30"	"10746"	"0"	"10746"	"0"	"c.10746A>T"	"r.(?)"	"p.(Ser3582=)"	""
"0000862328"	"00024085"	"50"	"10976"	"0"	"10976"	"0"	"c.10976G>T"	"r.(?)"	"p.(Arg3659Leu)"	""
"0000862329"	"00024085"	"50"	"11621"	"0"	"11621"	"0"	"c.11621G>A"	"r.(?)"	"p.(Arg3874Gln)"	""
"0000868330"	"00024085"	"90"	"5935"	"0"	"5935"	"0"	"c.5935C>T"	"r.(?)"	"p.(Arg1979*)"	""
"0000889643"	"00024085"	"50"	"2797"	"0"	"2797"	"0"	"c.2797C>T"	"r.(?)"	"p.(Arg933Trp)"	""
"0000889644"	"00024085"	"70"	"3156"	"2"	"3156"	"2"	"c.3156+2T>A"	"r.spl?"	"p.?"	""
"0000889645"	"00024085"	"50"	"4166"	"0"	"4166"	"0"	"c.4166C>T"	"r.(?)"	"p.(Ser1389Phe)"	""
"0000889646"	"00024085"	"70"	"4218"	"2"	"4218"	"2"	"c.4218+2T>A"	"r.spl?"	"p.?"	""
"0000889648"	"00024085"	"30"	"5573"	"0"	"5573"	"0"	"c.5573G>A"	"r.(?)"	"p.(Arg1858Gln)"	""
"0000889649"	"00024085"	"50"	"5958"	"0"	"5958"	"0"	"c.5958C>T"	"r.(?)"	"p.(Gly1986=)"	""
"0000889650"	"00024085"	"90"	"8185"	"0"	"8186"	"0"	"c.8185_8186del"	"r.(?)"	"p.(Ser2729*)"	""
"0000889651"	"00024085"	"50"	"9152"	"0"	"9152"	"0"	"c.9152C>T"	"r.(?)"	"p.(Pro3051Leu)"	""
"0000889652"	"00024085"	"50"	"10181"	"0"	"10181"	"0"	"c.10181G>A"	"r.(?)"	"p.(Gly3394Glu)"	""
"0000913507"	"00024085"	"90"	"1595"	"0"	"1595"	"0"	"c.1595C>A"	"r.(?)"	"p.(Ser532*)"	""
"0000913508"	"00024085"	"70"	"2044"	"0"	"2044"	"0"	"c.2044del"	"r.(?)"	"p.(Leu682Serfs*16)"	""
"0000913509"	"00024085"	"50"	"3613"	"0"	"3613"	"0"	"c.3613T>C"	"r.(?)"	"p.(Tyr1205His)"	""
"0000913510"	"00024085"	"50"	"4972"	"0"	"4972"	"0"	"c.4972C>G"	"r.(?)"	"p.(Arg1658Gly)"	""
"0000913511"	"00024085"	"50"	"5354"	"0"	"5354"	"0"	"c.5354T>C"	"r.(?)"	"p.(Val1785Ala)"	""
"0000913512"	"00024085"	"30"	"5962"	"-11"	"5962"	"-11"	"c.5962-11T>G"	"r.(=)"	"p.(=)"	""
"0000913513"	"00024085"	"30"	"7983"	"0"	"7983"	"0"	"c.7983G>C"	"r.(?)"	"p.(Lys2661Asn)"	""
"0000925325"	"00024085"	"90"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.(Gln844*)"	""
"0000925326"	"00024085"	"30"	"3634"	"4"	"3634"	"4"	"c.3634+4G>A"	"r.spl?"	"p.?"	""
"0000925327"	"00024085"	"30"	"6706"	"0"	"6706"	"0"	"c.6706G>A"	"r.(?)"	"p.(Ala2236Thr)"	""
"0000927673"	"00024085"	"50"	"1333"	"0"	"1333"	"0"	"c.1333T>C"	"r.(?)"	"p.(Ser445Pro)"	""
"0000929805"	"00024085"	"50"	"3074"	"0"	"3074"	"0"	"c.3074G>A"	"r.(?)"	"p.(Ser1025Asn)"	""
"0000929806"	"00024085"	"90"	"5251"	"0"	"5251"	"0"	"c.5251A>T"	"r.(?)"	"p.(Lys1751Ter)"	""
"0000935925"	"00024085"	"90"	"4906"	"0"	"4906"	"0"	"c.4906C>T"	"r.(?)"	"p.(Arg1636*)"	""
"0000939789"	"00024085"	"70"	"4906"	"0"	"4906"	"0"	"c.4906C>T"	"r.(?)"	"p.(Arg1636Ter)"	"15"
"0000939842"	"00024085"	"90"	"3464"	"0"	"3464"	"0"	"c.3464G>A"	"r.(?)"	"p.(Cys1155Tyr)"	""
"0000939853"	"00024085"	"70"	"8183"	"0"	"8186"	"0"	"c.8183_8186del"	"r.(?)"	"p.(Glu2728Valfs*28)"	""
"0000949595"	"00024085"	"50"	"710"	"0"	"710"	"0"	"c.710A>G"	"r.(?)"	"p.(His237Arg)"	""
"0000949596"	"00024085"	"30"	"3634"	"4"	"3634"	"4"	"c.3634+4G>A"	"r.spl?"	"p.?"	""
"0000949597"	"00024085"	"30"	"6572"	"0"	"6572"	"0"	"c.6572G>A"	"r.(?)"	"p.(Arg2191Gln)"	""
"0000949598"	"00024085"	"30"	"10580"	"0"	"10580"	"0"	"c.10580G>C"	"r.(?)"	"p.(Arg3527Pro)"	""
"0000952297"	"00024085"	"70"	"3542"	"0"	"3542"	"0"	"c.3542G>T"	"r.(?)"	"p.(Gly1181Val)"	""
"0000957343"	"00024085"	"50"	"11299"	"0"	"11299"	"0"	"c.11299G>A"	"r.(?)"	"p.(Ala3767Thr)"	""
"0000960271"	"00024085"	"70"	"5874"	"0"	"5878"	"0"	"c.5874_5878del"	"r.(?)"	"p.(Phe1959ValfsTer12)"	""
"0000960295"	"00024085"	"70"	"3856"	"0"	"3856"	"0"	"c.3856dup"	"r.(?)"	"p.(Ala1286Glyfs*40)"	""
"0000966183"	"00024085"	"70"	"3724"	"0"	"3724"	"0"	"c.3724C>T"	"r.(?)"	"p.(Gln1242*)"	""
"0000966184"	"00024085"	"90"	"3790"	"0"	"3790"	"0"	"c.3790C>T"	"r.(?)"	"p.(Arg1264Ter)"	""
"0000966186"	"00024085"	"90"	"4218"	"1"	"4218"	"1"	"c.4218+1G>T"	"r.spl?"	"p.?"	""
"0000966187"	"00024085"	"50"	"4447"	"0"	"4447"	"0"	"c.4447C>T"	"r.(?)"	"p.(His1483Tyr)"	""
"0000966189"	"00024085"	"90"	"8855"	"0"	"8855"	"0"	"c.8855dup"	"r.(?)"	"p.(Ala2953Serfs*22)"	""
"0000966192"	"00024085"	"50"	"9397"	"0"	"9397"	"0"	"c.9397A>C"	"r.(?)"	"p.(Thr3133Pro)"	""
"0000966193"	"00024085"	"50"	"10097"	"0"	"10097"	"0"	"c.10097C>A"	"r.(?)"	"p.(Thr3366Asn)"	""
"0000966194"	"00024085"	"30"	"10748"	"0"	"10748"	"0"	"c.10748G>A"	"r.(?)"	"p.(Gly3583Asp)"	""
"0000972390"	"00024085"	"70"	"4205"	"0"	"4205"	"0"	"c.4205G>T"	"r.(?)"	"p.(Arg1402Ile)"	""
"0000979375"	"00024085"	"50"	"835"	"0"	"835"	"0"	"c.835T>C"	"r.(?)"	"p.(Ser279Pro)"	""
"0000979376"	"00024085"	"30"	"1193"	"0"	"1193"	"0"	"c.1193A>G"	"r.(?)"	"p.(Lys398Arg)"	""
"0000979377"	"00024085"	"30"	"2401"	"0"	"2401"	"0"	"c.2401C>T"	"r.(?)"	"p.(His801Tyr)"	""
"0000979378"	"00024085"	"30"	"3114"	"0"	"3114"	"0"	"c.3114G>A"	"r.(?)"	"p.(=)"	""
"0000979379"	"00024085"	"50"	"3200"	"0"	"3200"	"0"	"c.3200G>A"	"r.(?)"	"p.(Arg1067Gln)"	""
"0000979380"	"00024085"	"50"	"3649"	"0"	"3654"	"0"	"c.3649_3654del"	"r.(?)"	"p.(Glu1217_Lys1218del)"	""
"0000979381"	"00024085"	"50"	"5851"	"0"	"5851"	"0"	"c.5851A>G"	"r.(?)"	"p.(Thr1951Ala)"	""
"0000979382"	"00024085"	"50"	"6200"	"0"	"6200"	"0"	"c.6200G>A"	"r.(?)"	"p.(Arg2067His)"	""
"0000979383"	"00024085"	"50"	"9495"	"0"	"9495"	"0"	"c.9495A>C"	"r.(?)"	"p.(Leu3165Phe)"	""
"0000979384"	"00024085"	"90"	"10691"	"0"	"10703"	"0"	"c.10691_10703dup"	"r.(?)"	"p.(Glu3569Aspfs*5)"	""
"0000979385"	"00024085"	"30"	"10836"	"-10"	"10836"	"-10"	"c.10836-10T>C"	"r.(=)"	"p.(=)"	""
"0000985112"	"00024085"	"70"	"4332"	"1"	"4332"	"1"	"c.4332+1G>A"	"r.(4219_4332del)"	"p.(Glu1407_Glu1444del)"	"10"
"0000985326"	"00024085"	"70"	"3335"	"-1"	"3335"	"-1"	"c.3335-1G>C"	"r.spl?"	"p.?"	""
"0000998759"	"00024085"	"30"	"200"	"0"	"202"	"0"	"c.200_202dup"	"r.(?)"	"p.(Ala67dup)"	""
"0000998760"	"00024085"	"30"	"236"	"0"	"236"	"0"	"c.236C>A"	"r.(?)"	"p.(Ala79Asp)"	""
"0000998761"	"00024085"	"30"	"616"	"0"	"616"	"0"	"c.616T>C"	"r.(?)"	"p.(Ser206Pro)"	""
"0000998762"	"00024085"	"30"	"685"	"0"	"685"	"0"	"c.685C>A"	"r.(?)"	"p.(Pro229Thr)"	""
"0000998763"	"00024085"	"30"	"992"	"0"	"992"	"0"	"c.992G>C"	"r.(?)"	"p.(Arg331Pro)"	""
"0000998764"	"00024085"	"50"	"1136"	"0"	"1136"	"0"	"c.1136C>G"	"r.(?)"	"p.(Ala379Gly)"	""
"0000998765"	"00024085"	"50"	"2143"	"0"	"2143"	"0"	"c.2143G>C"	"r.(?)"	"p.(Val715Leu)"	""
"0000998766"	"00024085"	"30"	"2428"	"0"	"2428"	"0"	"c.2428G>A"	"r.(?)"	"p.(Ala810Thr)"	""
"0000998767"	"00024085"	"30"	"2513"	"0"	"2513"	"0"	"c.2513G>C"	"r.(?)"	"p.(Trp838Ser)"	""
"0000998768"	"00024085"	"30"	"2965"	"0"	"2965"	"0"	"c.2965C>T"	"r.(?)"	"p.(Leu989Phe)"	""
"0000998769"	"00024085"	"30"	"3695"	"0"	"3695"	"0"	"c.3695G>C"	"r.(?)"	"p.(Ser1232Thr)"	""
"0000998770"	"00024085"	"30"	"3770"	"0"	"3770"	"0"	"c.3770G>A"	"r.(?)"	"p.(Ser1257Asn)"	""
"0000998771"	"00024085"	"30"	"3907"	"0"	"3907"	"0"	"c.3907C>G"	"r.(?)"	"p.(Leu1303Val)"	""
"0000998772"	"00024085"	"30"	"3923"	"0"	"3923"	"0"	"c.3923A>G"	"r.(?)"	"p.(Gln1308Arg)"	""
"0000998773"	"00024085"	"30"	"3974"	"0"	"3974"	"0"	"c.3974G>A"	"r.(?)"	"p.(Ser1325Asn)"	""
"0000998774"	"00024085"	"30"	"4054"	"0"	"4054"	"0"	"c.4054A>G"	"r.(?)"	"p.(Ser1352Gly)"	""
"0000998775"	"00024085"	"50"	"4819"	"0"	"4819"	"0"	"c.4819G>A"	"r.(?)"	"p.(Asp1607Asn)"	""
"0000998776"	"00024085"	"50"	"4972"	"0"	"4972"	"0"	"c.4972C>G"	"r.(?)"	"p.(Arg1658Gly)"	""
"0000998777"	"00024085"	"70"	"5004"	"1"	"5004"	"1"	"c.5004+1G>A"	"r.spl?"	"p.?"	""
"0000998778"	"00024085"	"30"	"5171"	"0"	"5171"	"0"	"c.5171C>T"	"r.(?)"	"p.(Thr1724Ile)"	""
"0000998779"	"00024085"	"30"	"5573"	"0"	"5573"	"0"	"c.5573G>A"	"r.(?)"	"p.(Arg1858Gln)"	""
"0000998780"	"00024085"	"90"	"5611"	"0"	"5611"	"0"	"c.5611G>T"	"r.(?)"	"p.(Glu1871*)"	""
"0000998781"	"00024085"	"50"	"6712"	"0"	"6712"	"0"	"c.6712G>A"	"r.(?)"	"p.(Asp2238Asn)"	""
"0000998782"	"00024085"	"30"	"7114"	"0"	"7114"	"0"	"c.7114C>A"	"r.(?)"	"p.(His2372Asn)"	""
"0000998783"	"00024085"	"50"	"7319"	"0"	"7319"	"0"	"c.7319T>C"	"r.(?)"	"p.(Phe2440Ser)"	""
"0000998784"	"00024085"	"30"	"7346"	"0"	"7346"	"0"	"c.7346T>C"	"r.(?)"	"p.(Phe2449Ser)"	""
"0000998785"	"00024085"	"30"	"7556"	"0"	"7556"	"0"	"c.7556G>A"	"r.(?)"	"p.(Arg2519Gln)"	""
"0000998786"	"00024085"	"50"	"7696"	"0"	"7696"	"0"	"c.7696G>A"	"r.(?)"	"p.(Glu2566Lys)"	""
"0000998787"	"00024085"	"50"	"9206"	"0"	"9206"	"0"	"c.9206C>A"	"r.(?)"	"p.(Thr3069Asn)"	""
"0000998788"	"00024085"	"50"	"9683"	"0"	"9683"	"0"	"c.9683G>A"	"r.(?)"	"p.(Arg3228His)"	""
"0000998789"	"00024085"	"50"	"9983"	"0"	"9983"	"0"	"c.9983A>G"	"r.(?)"	"p.(His3328Arg)"	""
"0000998790"	"00024085"	"50"	"10288"	"0"	"10288"	"0"	"c.10288T>G"	"r.(?)"	"p.(Cys3430Gly)"	""
"0000998791"	"00024085"	"30"	"10507"	"0"	"10507"	"0"	"c.10507G>C"	"r.(?)"	"p.(Ala3503Pro)"	""
"0000998792"	"00024085"	"30"	"10976"	"0"	"10976"	"0"	"c.10976G>T"	"r.(?)"	"p.(Arg3659Leu)"	""
"0000998793"	"00024085"	"50"	"11618"	"0"	"11618"	"0"	"c.11618A>G"	"r.(?)"	"p.(Lys3873Arg)"	""
"0000998794"	"00024085"	"30"	"11635"	"0"	"11635"	"0"	"c.11635G>A"	"r.(?)"	"p.(Asp3879Asn)"	""
"0001012138"	"00024085"	"70"	"3301"	"0"	"3301"	"0"	"c.3301C>T"	"r.(?)"	"p.(Arg1101*)"	"4"
"0001014756"	"00024085"	"70"	"6167"	"0"	"6167"	"0"	"c.6167G>T"	"r.(?)"	"p.(Arg2056Met)"	""
"0001014757"	"00024085"	"50"	"6861"	"0"	"6863"	"0"	"c.6861_6863del"	"r.(?)"	"p.(Ser2289del)"	""
"0001017591"	"00024085"	"70"	"4667"	"0"	"4668"	"0"	"c.4667_4668del"	"r.(?)"	"p.(Cys1556Serfs*2)"	"13"
"0001017596"	"00024085"	"70"	"2632"	"0"	"2632"	"0"	"c.2632C>T"	"r.(?)"	"p.(Arg878Trp)"	"3"
"0001017816"	"00024085"	"70"	"7178"	"0"	"7178"	"0"	"c.7178del"	"r.(?)"	"p.(Asn2393Thrfs*13)"	"27"
"0001017843"	"00024085"	"90"	"472"	"0"	"472"	"0"	"c.472dup"	"r.(?)"	"p.(Arg158Lysfs*12)"	"2"
"0001021294"	"00024085"	"70"	"3461"	"0"	"3461"	"0"	"c.3461G>A"	"r.(?)"	"p.(Arg1154Gln)"	""
"0001022112"	"00024085"	"50"	"8387"	"0"	"8387"	"0"	"c.8387G>T"	"r.8387G>T"	"p.Gly2796Val"	"27"
"0001025912"	"00024085"	"50"	"1510"	"0"	"1510"	"0"	"c.1510A>T"	"r.(?)"	"p.(Ser504Cys)"	""
"0001025913"	"00024085"	"30"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.(?)"	"p.(Gly909Asp)"	""
"0001025914"	"00024085"	"90"	"5887"	"0"	"5887"	"0"	"c.5887C>T"	"r.(?)"	"p.(Arg1963*)"	""
"0001027795"	"00024085"	"90"	"6080"	"-1"	"6080"	"-1"	"c.6080-1G>A"	"r.(?)"	"p.(?)"	""
"0001038232"	"00024085"	"30"	"-3135"	"0"	"-3135"	"0"	"c.-3135C>T"	"r.(?)"	"p.(=)"	""
"0001038233"	"00024085"	"30"	"158"	"0"	"158"	"0"	"c.158C>T"	"r.(?)"	"p.(Ala53Val)"	""
"0001038234"	"00024085"	"50"	"197"	"0"	"202"	"0"	"c.197_202dup"	"r.(?)"	"p.(Ala66_Ala67dup)"	""
"0001038235"	"00024085"	"50"	"1913"	"0"	"1913"	"0"	"c.1913C>T"	"r.(?)"	"p.(Ala638Val)"	""
"0001038236"	"00024085"	"50"	"2537"	"0"	"2537"	"0"	"c.2537A>G"	"r.(?)"	"p.(Glu846Gly)"	""
"0001038237"	"00024085"	"10"	"3291"	"0"	"3291"	"0"	"c.3291A>G"	"r.(?)"	"p.(Pro1097=)"	""
"0001038238"	"00024085"	"30"	"3334"	"265"	"3334"	"265"	"c.3334+265C>T"	"r.(=)"	"p.(=)"	""
"0001038239"	"00024085"	"30"	"4627"	"0"	"4627"	"0"	"c.4627A>G"	"r.(?)"	"p.(Lys1543Glu)"	""
"0001038240"	"00024085"	"50"	"5269"	"0"	"5269"	"0"	"c.5269G>A"	"r.(?)"	"p.(Val1757Ile)"	""
"0001038241"	"00024085"	"50"	"6298"	"0"	"6298"	"0"	"c.6298C>T"	"r.(?)"	"p.(His2100Tyr)"	""
"0001038242"	"00024085"	"50"	"6505"	"0"	"6505"	"0"	"c.6505G>C"	"r.(?)"	"p.(Gly2169Arg)"	""
"0001038243"	"00024085"	"50"	"7153"	"0"	"7153"	"0"	"c.7153C>T"	"r.(?)"	"p.(His2385Tyr)"	""
"0001038244"	"00024085"	"30"	"7255"	"0"	"7255"	"0"	"c.7255G>A"	"r.(?)"	"p.(Glu2419Lys)"	""
"0001038245"	"00024085"	"30"	"7255"	"0"	"7255"	"0"	"c.7255G>A"	"r.(?)"	"p.(Glu2419Lys)"	""
"0001038246"	"00024085"	"30"	"9955"	"0"	"9955"	"0"	"c.9955A>G"	"r.(?)"	"p.(Thr3319Ala)"	""
"0001038247"	"00024085"	"70"	"10414"	"0"	"10414"	"0"	"c.10414C>T"	"r.(?)"	"p.(Gln3472*)"	""
"0001038248"	"00024085"	"30"	"10746"	"0"	"10746"	"0"	"c.10746A>T"	"r.(?)"	"p.(Ser3582=)"	""
"0001038249"	"00024085"	"30"	"11071"	"262"	"11071"	"262"	"c.11071+262C>T"	"r.(=)"	"p.(=)"	""
"0001038250"	"00024085"	"50"	"11246"	"0"	"11246"	"0"	"c.11246G>A"	"r.(?)"	"p.(Arg3749His)"	""
"0001038251"	"00024085"	"50"	"11464"	"0"	"11464"	"0"	"c.11464C>T"	"r.(?)"	"p.(Arg3822Cys)"	""
"0001038252"	"00024085"	"50"	"11803"	"0"	"11803"	"0"	"c.11803C>T"	"r.(?)"	"p.(Arg3935Cys)"	""
"0001046286"	"00024085"	"50"	"1981"	"0"	"1981"	"0"	"c.1981G>A"	"r.(?)"	"p.(Val661Ile)"	""
"0001046287"	"00024085"	"90"	"4906"	"0"	"4906"	"0"	"c.4906C>T"	"r.(?)"	"p.(Arg1636*)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 137
"{{screeningid}}"	"{{variantid}}"
"0000050321"	"0000079301"
"0000050408"	"0000079388"
"0000050575"	"0000079555"
"0000050605"	"0000079693"
"0000050631"	"0000079698"
"0000056232"	"0000086465"
"0000056234"	"0000086467"
"0000056236"	"0000086469"
"0000056238"	"0000086471"
"0000056240"	"0000086472"
"0000056241"	"0000086473"
"0000056242"	"0000086474"
"0000056245"	"0000086479"
"0000056248"	"0000086481"
"0000056250"	"0000086483"
"0000056252"	"0000086485"
"0000056254"	"0000086487"
"0000056256"	"0000086488"
"0000056257"	"0000086490"
"0000056258"	"0000086491"
"0000056259"	"0000086492"
"0000056260"	"0000086493"
"0000056335"	"0000086574"
"0000064169"	"0000095138"
"0000064170"	"0000095139"
"0000079703"	"0000128477"
"0000079704"	"0000128478"
"0000079705"	"0000128479"
"0000079706"	"0000128480"
"0000080985"	"0000130071"
"0000081019"	"0000130105"
"0000081128"	"0000130214"
"0000089285"	"0000147213"
"0000105810"	"0000171267"
"0000105811"	"0000171268"
"0000105812"	"0000171269"
"0000105813"	"0000171270"
"0000105883"	"0000171461"
"0000105884"	"0000171462"
"0000105885"	"0000171463"
"0000105886"	"0000171464"
"0000105887"	"0000171465"
"0000105888"	"0000171466"
"0000105889"	"0000171467"
"0000105890"	"0000171468"
"0000105891"	"0000171469"
"0000105892"	"0000171470"
"0000105893"	"0000171471"
"0000105894"	"0000171472"
"0000111860"	"0000179018"
"0000155814"	"0000356895"
"0000155829"	"0000356911"
"0000165978"	"0000369808"
"0000184638"	"0000408761"
"0000184649"	"0000408772"
"0000208387"	"0000438222"
"0000208913"	"0000438936"
"0000212262"	"0000443909"
"0000274320"	"0000628268"
"0000276705"	"0000630834"
"0000276706"	"0000630835"
"0000276707"	"0000630836"
"0000276708"	"0000630837"
"0000276709"	"0000630838"
"0000276710"	"0000630839"
"0000276848"	"0000630998"
"0000277196"	"0000631940"
"0000277420"	"0000632238"
"0000277421"	"0000632239"
"0000277422"	"0000632240"
"0000277423"	"0000632241"
"0000277424"	"0000632242"
"0000277425"	"0000632243"
"0000277426"	"0000632244"
"0000277427"	"0000632245"
"0000289364"	"0000645293"
"0000291423"	"0000648112"
"0000297088"	"0000659701"
"0000302524"	"0000665814"
"0000304136"	"0000667534"
"0000304137"	"0000667535"
"0000304138"	"0000667536"
"0000304215"	"0000667637"
"0000304215"	"0000667638"
"0000304215"	"0000667645"
"0000305092"	"0000668655"
"0000307387"	"0000674010"
"0000308826"	"0000683258"
"0000312626"	"0000694230"
"0000312627"	"0000694231"
"0000312628"	"0000694232"
"0000312629"	"0000694233"
"0000312630"	"0000694234"
"0000312631"	"0000694235"
"0000312632"	"0000694236"
"0000312633"	"0000694237"
"0000312634"	"0000694238"
"0000312635"	"0000694239"
"0000312636"	"0000694240"
"0000312637"	"0000694241"
"0000312638"	"0000694242"
"0000312639"	"0000694243"
"0000312640"	"0000694244"
"0000312641"	"0000694245"
"0000312642"	"0000694246"
"0000312643"	"0000694247"
"0000312644"	"0000694248"
"0000312645"	"0000694249"
"0000312679"	"0000694283"
"0000312680"	"0000694284"
"0000312681"	"0000694285"
"0000312682"	"0000694286"
"0000316185"	"0000698335"
"0000316204"	"0000698354"
"0000321354"	"0000704183"
"0000327082"	"0000710714"
"0000327420"	"0000711126"
"0000362820"	"0000763194"
"0000381440"	"0000794900"
"0000382034"	"0000795668"
"0000411287"	"0000868330"
"0000439796"	"0000935925"
"0000441847"	"0000939789"
"0000441900"	"0000939842"
"0000441911"	"0000939853"
"0000445379"	"0000952297"
"0000449788"	"0000960271"
"0000449800"	"0000960295"
"0000450415"	"0000972390"
"0000451285"	"0000985112"
"0000451438"	"0000985326"
"0000457598"	"0001012138"
"0000459537"	"0001017591"
"0000459541"	"0001017596"
"0000459713"	"0001017816"
"0000459728"	"0001017843"
"0000462585"	"0001022112"