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2024-04-26 14:32:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005933 16599 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens lysine (K)-specific methyltransferase 2A (KMT2A),
transcript variant 2, mRNA.
ACCESSION NM_005933
VERSION NM_005933.3 GI:308199414
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 16599)
AUTHORS Saarinen,S., Kaasinen,E., Karjalainen-Lindsberg,M.L., Vesanen,K.,
Aavikko,M., Katainen,R., Taskinen,M., Kytola,S., Leppa,S.,
Hietala,M., Vahteristo,P. and Aaltonen,L.A.
TITLE Primary mediastinal large B-cell lymphoma segregating in a family:
exome sequencing identifies MLL as a candidate predisposition gene
JOURNAL Blood 121 (17), 3428-3430 (2013)
PUBMED 23457195
REMARK GeneRIF: variations in MLL gene is associated with mediastinal
large B-cell lymphoma.
REFERENCE 2 (bases 1 to 16599)
AUTHORS Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM, Nurnberger JI,
Ripke S, Santangelo S and Sullivan PF.
CONSRTM Cross-Disorder Group of the Psychiatric Genomics Consortium
TITLE Identification of risk loci with shared effects on five major
psychiatric disorders: a genome-wide analysis
JOURNAL Lancet 381 (9875), 1371-1379 (2013)
PUBMED 23453885
REMARK Erratum:[Lancet. 2013 Apr 20;381(9875):1360]
REFERENCE 3 (bases 1 to 16599)
AUTHORS Wu,L., Lee,S.Y., Zhou,B., Nguyen,U.T., Muir,T.W., Tan,S. and Dou,Y.
TITLE ASH2L regulates ubiquitylation signaling to MLL: trans-regulation
of H3 K4 methylation in higher eukaryotes
JOURNAL Mol. Cell 49 (6), 1108-1120 (2013)
PUBMED 23453805
REMARK GeneRIF: H2B dependent regulation of MLL family histone
methylatransferases depends on the N-terminal WH motif of ASH2L.
REFERENCE 4 (bases 1 to 16599)
AUTHORS Liu,H., Cheng,E.H. and Hsieh,J.J.
TITLE MLL fusions: pathways to leukemia
JOURNAL Cancer Biol. Ther. 8 (13), 1204-1211 (2009)
PUBMED 19729989
REMARK GeneRIF: Stduies indicate that leukemogenic MLL translocations fuse
the common MLL N-terminus (approximately 1,400 aa) in frame with
more than 60 translocation partner genes.
Review article
REFERENCE 5 (bases 1 to 16599)
AUTHORS Mbangkollo,D., Burnett,R., McCabe,N., Thirman,M., Gill,H., Yu,H.,
Rowley,J.D. and Diaz,M.O.
TITLE The human MLL gene: nucleotide sequence, homology to the Drosophila
trx zinc-finger domain, and alternative splicing
JOURNAL DNA Cell Biol. 14 (6), 475-483 (1995)
PUBMED 7598802
REFERENCE 6 (bases 1 to 16599)
AUTHORS Gu,Y., Nakamura,T., Alder,H., Prasad,R., Canaani,O., Cimino,G.,
Croce,C.M. and Canaani,E.
TITLE The t(4;11) chromosome translocation of human acute leukemias fuses
the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene
JOURNAL Cell 71 (4), 701-708 (1992)
PUBMED 1423625
REFERENCE 7 (bases 1 to 16599)
AUTHORS Tkachuk,D.C., Kohler,S. and Cleary,M.L.
TITLE Involvement of a homolog of Drosophila trithorax by 11q23
chromosomal translocations in acute leukemias
JOURNAL Cell 71 (4), 691-700 (1992)
PUBMED 1423624
REFERENCE 8 (bases 1 to 16599)
AUTHORS Djabali,M., Selleri,L., Parry,P., Bower,M., Young,B.D. and
Evans,G.A.
TITLE A trithorax-like gene is interrupted by chromosome 11q23
translocations in acute leukaemias
JOURNAL Nat. Genet. 2 (2), 113-118 (1992)
PUBMED 1303259
REMARK Erratum:[Nat Genet. 1993 Aug;4(4):431. PMID: 8401594]
REFERENCE 9 (bases 1 to 16599)
AUTHORS Cimino,G., Moir,D.T., Canaani,O., Williams,K., Crist,W.M.,
Katzav,S., Cannizzaro,L., Lange,B., Nowell,P.C., Croce,C.M. et al.
TITLE Cloning of ALL-1, the locus involved in leukemias with the
t(4;11)(q21;q23), t(9;11)(p22;q23), and t(11;19)(q23;p13)
chromosome translocations
JOURNAL Cancer Res. 51 (24), 6712-6714 (1991)
PUBMED 1835902
REFERENCE 10 (bases 1 to 16599)
AUTHORS Ziemin-van der Poel,S., McCabe,N.R., Gill,H.J., Espinosa,R. III,
Patel,Y., Harden,A., Rubinelli,P., Smith,S.D., LeBeau,M.M.,
Rowley,J.D. et al.
TITLE Identification of a gene, MLL, that spans the breakpoint in 11q23
translocations associated with human leukemias
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (23), 10735-10739 (1991)
PUBMED 1720549
REMARK Erratum:[Proc Natl Acad Sci U S A 1992 May 1;89(9):4220]
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from D14540.1, AB209508.1,
AP001267.4, AP000941.6 and BC065385.1.
This sequence is a reference standard in the RefSeqGene project.
On Oct 7, 2010 this sequence version replaced gi:56550038.
Summary: This gene encodes a transcriptional coactivator that plays
an essential role in regulating gene expression during early
development and hematopoiesis. The encoded protein contains
multiple conserved functional domains. One of these domains, the
SET domain, is responsible for its histone H3 lysine 4 (H3K4)
methyltransferase activity which mediates chromatin modifications
associated with epigenetic transcriptional activation. This protein
is processed by the enzyme Taspase 1 into two fragments, MLL-C and
MLL-N. These fragments reassociate and further assemble into
different multiprotein complexes that regulate the transcription of
specific target genes, including many of the HOX genes. Multiple
chromosomal translocations involving this gene are the cause of
certain acute lymphoid leukemias and acute myeloid leukemias.
Alternate splicing results in multiple transcript
variants.[provided by RefSeq, Oct 2010].
Transcript Variant: This variant (2) uses an alternate in-frame
splice site in the coding region, compared to variant 1. This
results in a shorter protein (isoform 2), compared to isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: L04284.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-5751 D14540.1 1-5751
5752-12441 AB209508.1 3296-9985
12442-14531 AP001267.4 148119-150208
14532-15538 AP000941.6 1-1007
15539-16599 BC065385.1 776-1836
FEATURES Location/Qualifiers
source 1..16599
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q23"
gene 1..16599
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="lysine (K)-specific methyltransferase 2A"
/db_xref="GeneID:4297"
/db_xref="HGNC:7132"
/db_xref="MIM:159555"
exon 1..455
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
CDS 24..11933
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/EC_number="2.1.1.43"
/note="isoform 2 precursor is encoded by transcript
variant 2; zinc finger protein HRX; trithorax-like
protein; CDK6/MLL fusion protein; MLL-AF4 der(11) fusion
protein; MLL/GAS7 fusion protein; MLL/GMPS fusion protein;
lysine N-methyltransferase 2A; CXXC-type zinc finger
protein 7; myeloid/lymphoid or mixed-lineage leukemia
(trithorax homolog, Drosophila)"
/codon_start=1
/product="histone-lysine N-methyltransferase MLL isoform 2
precursor"
/protein_id="NP_005924.2"
/db_xref="GI:56550039"
/db_xref="CCDS:CCDS31686.1"
/db_xref="GeneID:4297"
/db_xref="HGNC:7132"
/db_xref="MIM:159555"
/translation="
MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVPGGAAAASAASSSSASSSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLGFGSDEEVRVRSPTRSPSVKTSPRKPRGRPRSGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRPPTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKIKKLRAGKLSPLKSKFKTGKLQIGRKGVQIVRRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRIIPSSKRTDATIAKQLLQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSRFSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESNDRRSRRYSVSERSFGSRTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPASTAPMQGKRKSILREPTFRWTSLKHSRSEPQYFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAASARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSNRTSAGTSSSGVSNRKRKRKVFSPIRSEPRSPSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESAEKNQRPRKQTSAPAEPFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQSSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLDLGPTAPSLEKEKTLCLSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPKAQGQESDSSETSVRGPRIKHVCRRAAVALGRKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPLAPPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVCTNCLDKPKFGGRNIKKQCCKMRKCQNLQWMPSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSEPPPRKPVEEKSEEGNVSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPRPSIPVKQKPKEKEKPPPVNKQENAGTLNILSTLSNGNSSKQKIPADGVHRIRVDFKEDCEAENVWEMGGLGILTSVPITPRVVCFLCASSGHVEFVYCQVCCEPFHKFCLEENERPLEDQLENWCCRRCKFCHVCGRQHQATKQLLECNKCRNSYHPECLGPNYPTKPTKKKKVWICTKCVRCKSCGSTTPGKGWDAQWSHDFSLCHDCAKLFAKGNFCPLCDKCYDDDDYESKMMQCGKCDRWVHSKCENLSDEMYEILSNLPESVAYTCVNCTERHPAEWRLALEKELQISLKQVLTALLNSRTTSHLLRYRQAAKPPDLNPETEESIPSRSSPEGPDPPVLTEVSKQDDQQPLDLEGVKRKMDQGNYTSVLEFSDDIVKIIQAAINSDGGQPEIKKANSMVKSFFIRQMERVFPWFSVKKSRFWEPNKVSSNSGMLPNAVLPPSLDHNYAQWQEREENSHTEQPPLMKKIIPAPKPKGPGEPDSPTPLHPPTPPILSTDRSREDSPELNPPPGIEDNRQCALCLTYGDDSANDAGRLLYIGQNEWTHVNCALWSAEVFEDDDGSLKNVHMAVIRGKQLRCEFCQKPGATVGCCLTSCTSNYHFMCSRAKNCVFLDDKKVYCQRHRDLIKGEVVPENGFEVFRRVFVDFEGISLRRKFLNGLEPENIHMMIGSMTIDCLGILNDLSDCEDKLFPIGYQCSRVYWSTTDARKRCVYTCKIVECRPPVVEPDINSTVEHDENRTIAHSPTSFTESSSKESQNTAEIISPPSPDRPPHSQTSGSCYYHVISKVPRIRTPSYSPTQRSPGCRPLPSAGSPTPTTHEIVTVGDPLLSSGLRSIGSRRHSTSSLSPQRSKLRIMSPMRTGNTYSRNNVSSVSTTGTATDLESSAKVVDHVLGPLNSSTSLGQNTSTSSNLQRTVVTVGNKNSHLDGSSSSEMKQSSASDLVSKSSSLKGEKTKVLSSKSSEGSAHNVAYPGIPKLAPQVHNTTSRELNVSKIGSFAEPSSVSFSSKEALSFPHLHLRGQRNDRDQHTDSTQSANSSPDEDTEVKTLKLSGMSNRSSIINEHMGSSSRDRRQKGKKSCKETFKEKHSSKSFLEPGQVTTGEEGNLKPEFMDEVLTPEYMGQRPCNNVSSDKIGDKGLSMPGVPKAPPMQVEGSAKELQAPRKRTVKVTLTPLKMENESQSKNALKESSPASPLQIESTSPTEPISASENPGDGPVAQPSPNNTSCQDSQSNNYQNLPVQDRNLMLPDGPKPQEDGSFKRRYPRRSARARSNMFFGLTPLYGVRSYGEEDIPFYSSSTGKKRGKRSAEGQVDGADDLSTSDEDDLYYYNFTRTVISSGGEERLASHNLFREEEQCDLPKISQLDGVDDGTESDTSVTATTRKSSQIPKRNGKENGTENLKIDRPEDAGEKEHVTKSSVGHKNEPKMDNCHSVSRVKTQGQDSLEAQLSSLESSRRVHTSTPSDKNLLDTYNTELLKSDSDNNNSDDCGNILPSDIMDFVLKNTPSMQALGESPESSSSELLNLGEGLGLDSNREKDMGLFEVFSQQLPTTEPVDSSVSSSISAEEQFELPLELPSDLSVLTTRSPTVPSQNPSRLAVISDSGEKRVTITEKSVASSESDPALLSPGVDPTPEGHMTPDHFIQGHMDADHISSPPCGSVEQGHGNNQDLTRNSSTPGLQVPVSPTVPIQNQKYVPNSTDSPGPSQISNAAVQTTPPHLKPATEKLIVVNQNMQPLYVLQTLPNGVTQKIQLTSSVSSTPSVMETNTSVLGPMGGGLTLTTGLNPSLPTSQSLFPSASKGLLPMSHHQHLHSFPAATQSSFPPNISNPPSGLLIGVQPPPDPQLLVSESSQRTDLSTTVATPSSGLKKRPISRLQTRKNKKLAPSSTPSNIAPSDVVSNMTLINFTPSQLPNHPSLLDLGSLNTSSHRTVPNIIKRSKSSIMYFEPAPLLPQSVGGTAATAAGTSTISQDTSHLTSGSVSGLASSSSVLNVVSMQTTTTPTSSASVPGHVTLTNPRLLGTPDIGSISNLLIKASQQSLGIQDQPVALPPSSGMFPQLGTSQTPSTAAITAASSICVLPSTQTTGITAASPSGEADEHYQLQHVNQLLASKTGIHSSQRDLDSASGPQVSNFTQTVDAPNSMGLEQNKALSSAVQASPTSPGGSPSSPSSGQRSASPSVPGPTKPKPKTKRFQLPLDKGNGKKHKVSHLRTSSSEAHIPDQETTSLTSGTGTPGAEAEQQDTASVEQSSQKECGQPAGQVAVLPEVQVTQNPANEQESAEPKTVEEEESNFSSPLMLWLQQEQKRKESITEKKPKKGLVFEISSDDGFQICAESIEDAWKSLTDKVQEARSNARLKQLSFAGVNGLRMLGILHDAVVFLIEQLSGAKHCRNYKFRFHKPEEANEPPLNPHGSARAEVHLRKSAFDMFNFLASKHRQPPEYNPNDEEEEEVQLKSARRATSMDLPMPMRFRHLKKTSKEAVGVYRSPIHGRGLFCKRNIDAGEMVIEYAGNVIRSIQTDKREKYYDSKGIGCYMFRIDDSEVVDATMHGNAARFINHSCEPNCYSRVINIDGQKHIVIFAMRKIYRGEELTYDYKFPIEDASNKLPCNCGAKKCRKFLN
"
mat_peptide 24..8177
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/product="MLL cleavage product N320 isoform 2"
misc_feature 480..482
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 612..614
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 1032..1034
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1575..1577
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 1929..1931
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); acetylation site"
misc_feature 2061..2063
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 2541..2543
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); phosphorylation site"
misc_feature 2799..2801
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 3189..3191
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 3411..3413
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); acetylation site"
misc_feature 3465..3605
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="CXXC zinc finger domain; Region: zf-CXXC;
pfam02008"
/db_xref="CDD:202085"
misc_feature 3726..3728
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); acetylation site"
misc_feature 4023..4028
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form MLL-ZFYVE19
oncogene; propagated from UniProtKB/Swiss-Prot (Q03164.5);
other site"
misc_feature 4107..4112
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form MLL-AF3P21 and
MLL-CASC5 oncogenes; Breakpoint for translocation to form
MLL-CENPK oncogene; propagated from UniProtKB/Swiss-Prot
(Q03164.5); other site"
misc_feature 4107..4109
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form MLL-FRYL
fusion protein; propagated from UniProtKB/Swiss-Prot
(Q03164.5); other site"
misc_feature 4239..4244
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form MLL-AFF4
fusion protein; propagated from UniProtKB/Swiss-Prot
(Q03164.5); other site"
misc_feature 4320..4469
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="PHD-finger; Region: PHD; pfam00628"
/db_xref="CDD:201356"
misc_feature 4353..4358
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Breakpoint for translocation to form MLL-GAS7
oncogene; Breakpoint for translocation to form MLL-LPP;
propagated from UniProtKB/Swiss-Prot (Q03164.5); other
site"
misc_feature 4464..4613
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="PHD zinc finger; Region: PHD; smart00249"
/db_xref="CDD:197604"
misc_feature 4725..4904
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="PHD-finger; Region: PHD; pfam00628"
/db_xref="CDD:201356"
misc_feature 4962..5354
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="Bromodomain, ALL-1 like proteins. ALL-1 is a
vertebrate homologue of Drosophila trithorax and is often
affected in chromosomal rearrangements that are linked to
acute leukemias, such as acute lymphocytic leukemia (ALL).
Bromodomains are found in many...; Region: Bromo_ALL-1;
cd05493"
/db_xref="CDD:99925"
misc_feature order(5091..5093,5106..5108,5115..5117,5232..5234,
5244..5246,5298..5300)
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="putative acetyllysine binding site [chemical
binding]; other site"
/db_xref="CDD:99925"
misc_feature 5532..5534
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 5556..5558
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); phosphorylation site"
misc_feature 5556..5558
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 5595..5597
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 5721..5957
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="PHD-like zinc-binding domain; Region: zf-HC5HC2H;
pfam13771"
/db_xref="CDD:205944"
misc_feature 5817..5954
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="PHD zinc finger; Region: PHD; smart00249"
/db_xref="CDD:197604"
misc_feature 6090..6242
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="F/Y-rich N-terminus; Region: FYRN; pfam05964"
/db_xref="CDD:191411"
misc_feature 6315..6317
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 6462..6464
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); phosphorylation site"
misc_feature 6474..6476
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 6474..6476
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 6624..6626
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 7596..7598
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); phosphorylation site"
misc_feature 8019..8024
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by TASP1, site 1; propagated from
UniProtKB/Swiss-Prot (Q03164.5); cleavage site"
misc_feature 8019..8021
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:07460"
misc_feature 8175..8180
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Cleavage, by TASP1, site 2; propagated from
UniProtKB/Swiss-Prot (Q03164.5); cleavage site"
misc_feature 8175..8177
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:07460"
mat_peptide 8178..11930
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/product="MLL cleavage product C180 isoform 2"
misc_feature 8562..8588
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q03164.5);
Region: 9aaTAD"
misc_feature 8619..8621
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 8841..8843
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 8886..8888
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 9129..9131
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 9129..9131
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 10137..10139
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (Q03164.5); phosphorylation site"
misc_feature 10554..10556
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 10554..10556
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 10566..10568
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q03164.5); phosphorylation site"
misc_feature 11028..11279
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="FY-rich domain, C-terminal region; Region: FYRC;
smart00542"
/db_xref="CDD:197781"
misc_feature 11316..11318
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="Important for WDR5-recognition and binding;
propagated from UniProtKB/Swiss-Prot (Q03164.5); other
site"
misc_feature <11496..11930
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="Proteins containing SET domain [General function
prediction only]; Region: COG2940"
/db_xref="CDD:32763"
misc_feature 11514..11876
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
domain; Region: SET; smart00317"
/db_xref="CDD:197649"
misc_feature 11739..11744
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q03164.5);
Region: S-adenosyl-L-methionine binding"
misc_feature 11880..11930
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/note="Cysteine-rich motif following a subset of SET
domains; Region: PostSET; smart00508"
/db_xref="CDD:128784"
variation 112
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:9332745"
variation 158
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332746"
variation 181
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332747"
variation 303
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368107581"
variation 310
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201155865"
exon 456..525
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
exon 526..3179
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 565
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:11552438"
variation 602
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:138446387"
variation 708
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:143998546"
variation 710
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:66766990"
variation 766
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147272445"
variation 812
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200698383"
variation 816
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:79405108"
variation 819
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:75867055"
variation 830
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149767877"
variation 833
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144694397"
variation 875
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375533652"
variation 1014
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:368926838"
variation 1015
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148514018"
variation 1108..1109
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:34854073"
variation 1109..1110
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:146062129"
variation 1142
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:146343645"
variation 1183
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:67541214"
variation 1203
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:182218872"
variation 1216
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144127791"
variation 1262
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:146517864"
variation 1280
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141004205"
variation 1302
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142138730"
variation 1308
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:79703183"
variation 1342
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374085090"
variation 1482
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201740733"
variation 1506
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377688685"
variation 1513
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143420861"
variation 1527
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:9332772"
variation 1532
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374716873"
variation 1542
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:191014566"
variation 1544
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:201139747"
variation 1595
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:182676246"
variation 1613
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:140221671"
variation 1689
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1064911"
variation 1794
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370854390"
variation 1825
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:368659701"
variation 1833
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150328852"
variation 1849
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:137867090"
variation 1889
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141971802"
variation 1976
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:61751531"
STS 1979..2214
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="STS-AA009746"
/db_xref="UniSTS:37172"
variation 1997
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332773"
variation 1998
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374545538"
variation 2027
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:147102502"
variation 2039
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368516174"
variation 2042
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371376109"
variation 2058
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:67392231"
variation 2085
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:369566552"
variation 2085
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:66501622"
variation 2201
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:111321181"
variation 2204
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:138598543"
variation 2216
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372849484"
variation 2222
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:151193477"
variation 2224
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:11552439"
variation 2285
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143985343"
variation 2340
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:199922480"
variation 2342
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147308365"
variation 2357
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:148319291"
variation 2359
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201960342"
variation 2371
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:200946943"
variation 2386
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372232178"
variation 2410
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:141454478"
variation 2424
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375240261"
variation 2432
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:369782631"
variation 2449
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374005016"
variation 2551
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:59939662"
variation 2580
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377739026"
variation 2584
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377416766"
variation 2643
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369821804"
variation 2707
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200600434"
variation 2749
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139227835"
variation 2848
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144235455"
variation 2875
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:374385218"
variation 2964
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:375934901"
variation 2966
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:146028064"
variation 2988
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139989306"
variation 2996
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332774"
variation 3001
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200209840"
variation 3024
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377066546"
variation 3075
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370181042"
variation 3097
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143349186"
variation 3123
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199822229"
variation 3164
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:374983006"
exon 3180..3357
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 3180
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:145549283"
variation 3186
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:148458977"
variation 3201
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142543449"
variation 3217
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:199620348"
variation 3290
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374190903"
variation 3292
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367851276"
variation 3314
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332783"
exon 3358..3592
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 3381
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:71482146"
STS 3384..3567
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="RH65355"
/db_xref="UniSTS:43284"
variation 3399
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141959511"
exon 3593..3657
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
STS 3616..3919
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="Mll1"
/db_xref="UniSTS:143875"
variation 3616
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1784246"
variation 3630
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1786484"
variation 3640
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:145811623"
variation 3649
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:1784245"
exon 3658..4035
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 3662
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147741426"
variation 3707
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369529777"
variation 3723
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374632181"
variation 3731
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375849517"
variation 3745
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:142658261"
variation 3785
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377204856"
variation 3819
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370374383"
variation 3821
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372782628"
variation 3822
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376303494"
variation 3861
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370731183"
variation 3884
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:186432076"
STS 3899..4035
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="STS-H92945"
/db_xref="UniSTS:38205"
variation 3964
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150277124"
variation 3989
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138874232"
variation 3997
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149404438"
variation 4033
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:518835"
exon 4036..4109
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4079
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:186541154"
variation 4084
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:201813757"
variation 4085
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143706780"
variation 4088
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200708161"
exon 4110..4241
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4115
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="a"
/db_xref="dbSNP:66833958"
variation 4175
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376817515"
variation 4226
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:368395489"
exon 4242..4355
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4277
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:147072909"
variation 4307
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:9332801"
variation 4349
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:141961986"
exon 4356..4502
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4392
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201765973"
variation 4412
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140033934"
variation 4434
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:141812809"
variation 4442
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375471954"
variation 4453
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377462697"
variation 4472
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200629846"
exon 4503..4598
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4527
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:150800017"
variation 4580
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113523063"
exon 4599..4719
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4628
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:372071770"
variation 4634
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:112836014"
variation 4635
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:4121657"
variation 4643
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:4121658"
variation 4664
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:201494411"
variation 4674
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372664716"
variation 4688
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201784858"
variation 4709
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:200727599"
variation 4710
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:66489566"
exon 4720..4833
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4724
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369080295"
variation 4775
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371299248"
variation 4830
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139123379"
exon 4834..5018
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 4902
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376776245"
variation 4903
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143317202"
variation 4916
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144944070"
variation 4938
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:369646146"
variation 4947
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377485215"
variation 4986
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:373435126"
exon 5019..5192
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 5045
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140439290"
variation 5070
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377724112"
exon 5193..5303
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 5226
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:77275625"
exon 5304..5377
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
exon 5378..5571
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 5396
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:187372921"
variation 5455..5456
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="aaaaacc"
/db_xref="dbSNP:140150911"
variation 5539
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144180211"
variation 5557
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:193192906"
variation 5559
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:369974258"
exon 5572..5678
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 5587
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377588214"
variation 5597
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:374588598"
variation 5645
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147764171"
exon 5679..5816
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 5693
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:7107305"
variation 5698
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143373748"
variation 5747
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:151337923"
variation 5790
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140545520"
variation 5792
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200127166"
variation 5814
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371413016"
exon 5817..5975
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 5819
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368269082"
variation 5855
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1185373"
variation 5930
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:150465296"
variation 5947
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:693598"
exon 5976..6093
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 6023
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:77421119"
variation 6032
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:202002114"
variation 6059
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371070385"
variation 6062
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:374454716"
exon 6094..6172
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 6095
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:142830885"
exon 6173..6333
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 6177..6178
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="c"
/db_xref="dbSNP:35278914"
variation 6199
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145061625"
variation 6253
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199868811"
variation 6257
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332834"
exon 6334..6519
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 6355
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:557465"
variation 6356
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374337395"
variation 6372
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149351885"
variation 6453
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144608351"
variation 6464
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:191483551"
variation 6492
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370121930"
variation 6506
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:145452548"
variation 6516
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372995209"
exon 6520..10768
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 6585
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:200497972"
variation 6586
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141727765"
variation 6590
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201483860"
variation 6603
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377156559"
variation 6604
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370899148"
variation 6617
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200935930"
variation 6633
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150570074"
variation 6646
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140529566"
variation 6661
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:371772102"
variation 6671
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199606724"
variation 6699
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:367939528"
variation 6710
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:376531474"
variation 6712
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144271443"
variation 6713
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:36026884"
variation 6718
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369443279"
variation 6751
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139450035"
variation 6808
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:149888768"
variation 6819
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374481108"
variation 6821
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:145857563"
variation 6833
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377232966"
variation 6952
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200633378"
variation 6971
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149014176"
variation 6978
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:9332837"
variation 6995
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:111444752"
variation 7018
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:188435877"
variation 7068
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201869352"
variation 7084
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:9332838"
variation 7097
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:192173056"
variation 7142
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373020975"
variation 7158
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907275"
variation 7161
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376579850"
variation 7183
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332839"
variation 7197
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142985138"
variation 7218
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:370812470"
variation 7232
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200008889"
variation 7235
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:372755187"
variation 7268
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:2071702"
variation 7313
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373625999"
variation 7318
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:76721917"
variation 7321
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:145028869"
variation 7444
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138913980"
variation 7478
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140442678"
variation 7519
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150412512"
variation 7522
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:143525945"
variation 7530
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:370745462"
variation 7570
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183240996"
variation 7633
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="a"
/db_xref="dbSNP:68020547"
variation 7680
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:374626588"
variation 7703
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332840"
variation 7729
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368589265"
variation 7738
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149529128"
variation 7749..7750
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="g"
/db_xref="dbSNP:36083173"
variation 7750
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147223140"
variation 7769
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:67908543"
variation 7786
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:374420996"
variation 7807
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:368088982"
variation 7821
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:138785863"
variation 7828
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:367599045"
variation 7838
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372133306"
variation 7886
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:113178411"
variation 7997
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:142807735"
variation 8054
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145943534"
variation 8105
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:200177201"
variation 8135
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:3205893"
variation 8157
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375049498"
variation 8163
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="a"
/db_xref="dbSNP:68039303"
variation 8228
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:138868861"
variation 8236
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:112089616"
variation 8291
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372354558"
variation 8321
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148437955"
variation 8368
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:75683916"
variation 8438
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:377289398"
variation 8440
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:78394155"
variation 8459
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201281130"
variation 8468
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:186489777"
variation 8471
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142499035"
variation 8472
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375644428"
variation 8486
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372208886"
variation 8582
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:61752725"
variation 8646
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150502030"
variation 8664
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332841"
variation 8690
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="a"
/db_xref="dbSNP:66827996"
variation 8711
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139469741"
variation 8789
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368865070"
variation 8891
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373487642"
variation 8923
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150050498"
variation 8957
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:146635751"
variation 8975
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:9332842"
variation 8979
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143843795"
variation 8987
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375952502"
variation 9001
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:191446381"
variation 9033
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:369637853"
variation 9035
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146812027"
variation 9053
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:142875797"
variation 9091
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:373064982"
variation 9176..9177
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="g"
/db_xref="dbSNP:35581948"
variation 9179
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143721596"
variation 9206..9207
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="g"
/db_xref="dbSNP:34434225"
variation 9231
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376161579"
variation 9233
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148077979"
STS 9265..9680
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="MARC_12741-12742:1029349377:1"
/db_xref="UniSTS:267437"
variation 9272
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:200739718"
variation 9324
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:187112243"
variation 9342
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200141649"
variation 9357
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140941483"
variation 9387
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146069428"
variation 9405
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150804738"
variation 9414
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138969270"
variation 9537
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201921171"
variation 9579
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142796581"
variation 9598
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:147412214"
variation 9599
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371553631"
variation 9615
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:202163335"
variation 9617
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1803763"
variation 9630
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:185155002"
variation 9654
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:200927500"
variation 9661
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374441915"
variation 9783
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138046203"
variation 9843
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200324977"
variation 9850
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376986915"
variation 9859
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113515064"
variation 9887
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149474220"
variation 9944
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371867946"
variation 9953
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370196316"
variation 9960
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143955975"
variation 9961
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201447376"
variation 9975
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148598896"
variation 10051
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:66608861"
variation 10063
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:372478830"
variation 10069
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375734242"
variation 10083
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="a"
/db_xref="dbSNP:67495272"
variation 10090
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:149340870"
variation 10091
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200365395"
variation 10100
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:141579106"
variation 10107
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375852658"
variation 10127
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369292004"
variation 10223
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332843"
variation 10237
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:369813563"
variation 10247
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:190087851"
variation 10250
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:371281004"
variation 10271
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375010813"
variation 10278
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369299385"
variation 10288
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140200473"
variation 10302
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:373345566"
variation 10307
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:199659721"
variation 10311
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:143780031"
variation 10332
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:117099452"
variation 10335
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:200112360"
variation 10341
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201345346"
variation 10365
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139366882"
variation 10394
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:200260418"
variation 10410
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:112678346"
variation 10480
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376937581"
variation 10487
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370519458"
variation 10489
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145249825"
variation 10517
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373125614"
variation 10561
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149137886"
variation 10568
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201733392"
variation 10585
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146434158"
variation 10594
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:147844226"
variation 10605
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:199656572"
variation 10620
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200371479"
variation 10666
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:141407877"
variation 10729
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:147014136"
variation 10747
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370698782"
variation 10760
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:9332844"
variation 10762
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148022594"
exon 10769..10849
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 10799
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:141735508"
variation 10846
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150112908"
variation 10849
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:138551362"
exon 10850..10914
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 10856
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370781768"
variation 10864
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146191865"
variation 10873
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:34036506"
variation 10878
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:139119128"
variation 10882
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142212840"
variation 10889
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199851071"
exon 10915..11085
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 10916
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:113003878"
variation 10991
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373098708"
variation 10998
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201724738"
variation 11020
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144844866"
variation 11060
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201067303"
variation 11079
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:369995531"
exon 11086..11160
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 11127
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:184820566"
exon 11161..11335
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 11163
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332859"
variation 11168
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367846617"
variation 11295
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148548051"
variation 11306
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371289157"
variation 11309
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200597062"
exon 11336..11443
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 11340
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:9332861"
variation 11405
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:2276058"
exon 11444..11527
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 11447
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376914389"
variation 11519
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:142948344"
exon 11528..11657
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 11600
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200576371"
variation 11607
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200134640"
variation 11609
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:151058616"
variation 11635
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140845031"
exon 11658..16585
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/inference="alignment:Splign:1.39.8"
variation 11747
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:144742133"
variation 11804
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377564464"
variation 11888
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376527206"
variation 11903
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201724179"
variation 11917
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369182428"
variation 11918
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:375281059"
variation 11925
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:71482148"
variation 11937
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:377663970"
variation 12015..12016
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:34601576"
variation 12030
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:188913109"
STS 12055..12257
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="MLL1"
/db_xref="UniSTS:19861"
variation 12088
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:9332866"
variation 12230
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332867"
variation 12338
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:3132889"
variation 12389
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:3132888"
variation 12391
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:3132890"
variation 12442
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:573971"
variation 12469
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332868"
variation 12559
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:111910322"
variation 12602
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332869"
variation 12624..12625
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="t"
/db_xref="dbSNP:372359068"
variation 12702
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:9332870"
variation 12716
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:185614326"
variation 12725
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:190236402"
variation 12787
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:182470418"
variation 12902
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:9332871"
variation 12916
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373156033"
variation 12924
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:185757845"
variation 12951
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:189880899"
variation 13102..13103
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="g"
/db_xref="dbSNP:34527196"
variation 13160
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:9332872"
variation 13187
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:139375279"
variation 13264
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:150055331"
variation 13358
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147317561"
variation 13408
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:181226207"
variation 13513
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:185883375"
STS 13555..13676
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="STS-T67449"
/db_xref="UniSTS:14186"
variation 13572
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:376129606"
variation 13835
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370795871"
variation 13928
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:141036837"
variation 13984
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144157557"
variation 14045
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:190548021"
STS 14232..14381
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="RH16534"
/db_xref="UniSTS:29962"
variation 14301
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147772025"
variation 14396
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:762872"
variation 14634
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="g"
/db_xref="dbSNP:1064920"
variation 14670
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:79648960"
variation 14779
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:117692849"
variation 14807
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373756201"
STS 14824..15012
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="RH48277"
/db_xref="UniSTS:54248"
variation 14929
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183578164"
variation 15065
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="c"
/db_xref="dbSNP:188723449"
variation 15217
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:516676"
variation 15363
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="a"
/db_xref="dbSNP:61084765"
variation 15377
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:1064939"
variation 15420
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="aa"
/db_xref="dbSNP:59613913"
variation 15800..15801
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace=""
/replace="g"
/db_xref="dbSNP:35085183"
variation 15924
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:191872671"
variation 15949
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:184068654"
variation 15997
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142585619"
variation 15998
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:186509514"
variation 16218
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="c"
/replace="t"
/db_xref="dbSNP:79406650"
STS 16222..16342
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/standard_name="RH44274"
/db_xref="UniSTS:81943"
variation 16226
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:191454309"
variation 16301
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="g"
/replace="t"
/db_xref="dbSNP:76962363"
variation 16349
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183985126"
variation 16363
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377478871"
variation 16367
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="g"
/db_xref="dbSNP:140845386"
variation 16457
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
/replace="a"
/replace="t"
/db_xref="dbSNP:187140142"
polyA_signal 16567..16572
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
polyA_site 16585
/gene="KMT2A"
/gene_synonym="ALL-1; CXXC7; HRX; HTRX1; MLL; MLL/GAS7;
MLL1A; TET1-MLL; TRX1; WDSTS"
ORIGIN
ctgcttcacttcacggggcgaacatggcgcacagctgtcggtggcgcttccccgcccgacccgggaccaccgggggcggcggcggcggggggcgccggggcctagggggcgccccgcggcaacgcgtcccggccctgctgcttccccccgggcccccggtcggcggtggcggccccggggcgcccccctcccccccggctgtggcggccgcggcggcggcggcgggaagcagcggggctggggttccagggggagcggccgccgcctcagcagcctcctcgtcgtccgcctcgtcttcgtcttcgtcatcgtcctcagcctcttcagggccggccctgctccgggtgggcccgggcttcgacgcggcgctgcaggtctcggccgccatcggcaccaacctgcgccggttccgggccgtgtttggggagagcggcgggggaggcggcagcggagaggatgagcaattcttaggttttggctcagatgaagaagtcagagtgcgaagtcccacaaggtctccttcagttaaaactagtcctcgaaaacctcgtgggagacctagaagtggctctgaccgaaattcagctatcctctcagatccatctgtgttttcccctctaaataaatcagagaccaaatctggagataagatcaagaagaaagattctaaaagtatagaaaagaagagaggaagacctcccaccttccctggagtaaaaatcaaaataacacatggaaaggacatttcagagttaccaaagggaaacaaagaagatagcctgaaaaaaattaaaaggacaccttctgctacgtttcagcaagccacaaagattaaaaaattaagagcaggtaaactctctcctctcaagtctaagtttaagacagggaagcttcaaataggaaggaagggggtacaaattgtacgacggagaggaaggcctccatcaacagaaaggataaagaccccttcgggtctcctcattaattctgaactggaaaagccccagaaagtccggaaagacaaggaaggaacacctccacttacaaaagaagataagacagttgtcagacaaagccctcgaaggattaagccagttaggattattccttcttcaaaaaggacagatgcaaccattgctaagcaactcttacagagggcaaaaaagggggctcaaaagaaaattgaaaaagaagcagctcagctgcagggaagaaaggtgaagacacaggtcaaaaatattcgacagttcatcatgcctgttgtcagtgctatctcctcgcggatcattaagacccctcggcggtttatagaggatgaggattatgaccctccaattaaaattgcccgattagagtctacaccgaatagtagattcagtgccccgtcctgtggatcttctgaaaaatcaagtgcagcttctcagcactcctctcaaatgtcttcagactcctctcgatctagtagccccagtgttgatacctccacagactctcaggcttctgaggagattcaggtacttcctgaggagcggagcgatacccctgaagttcatcctccactgcccatttcccagtccccagaaaatgagagtaatgataggagaagcagaaggtattcagtgtcggagagaagttttggatctagaacgacgaaaaaattatcaactctacaaagtgccccccagcagcagacctcctcgtctccacctccacctctgctgactccaccgccaccactgcagccagcctccagtatctctgaccacacaccttggcttatgcctccaacaatccccttagcatcaccatttttgcctgcttccactgctcctatgcaagggaagcgaaaatctattttgcgagaaccgacatttaggtggacttctttaaagcattctaggtcagagccacaatacttttcctcagcaaagtatgccaaagaaggtcttattcgcaaaccaatatttgataatttccgaccccctccactaactcccgaggacgttggctttgcatctggtttttctgcatctggtaccgctgcttcagcccgattgttttcgccactccattctggaacaaggtttgatatgcacaaaaggagccctcttctgagagctccaagatttactccaagtgaggctcactctagaatatttgagtctgtaaccttgcctagtaatcgaacttctgctggaacatcttcttcaggagtatccaatagaaaaaggaaaagaaaagtgtttagtcctattcgatctgaaccaagatctccttctcactccatgaggacaagaagtggaaggcttagtagttctgagctctcacctctcacccccccgtcttctgtctcttcctcgttaagcatttctgttagtcctcttgccactagtgccttaaacccaacttttacttttccttctcattccctgactcagtctggggaatctgcagagaaaaatcagagaccaaggaagcagactagtgctccggcagagccattttcatcaagtagtcctactcctctcttcccttggtttaccccaggctctcagactgaaagagggagaaataaagacaaggcccccgaggagctgtccaaagatcgagatgctgacaagagcgtggagaaggacaagagtagagagagagaccgggagagagaaaaggagaataagcgggagtcaaggaaagagaaaaggaaaaagggatcagaaattcagagtagttctgctttgtatcctgtgggtagggtttccaaagagaaggttgttggtgaagatgttgccacttcatcttctgccaaaaaagcaacagggcggaagaagtcttcatcacatgattctgggactgatattacttctgtgactcttggggatacaacagctgtcaaaaccaaaatacttataaagaaagggagaggaaatctggaaaaaaccaacttggacctcggcccaactgccccatccctggagaaggagaaaaccctctgcctttccactccttcatctagcactgttaaacattccacttcctccataggctccatgttggctcaggcagacaagcttccaatgactgacaagagggttgccagcctcctaaaaaaggccaaagctcagctctgcaagattgagaagagtaagagtcttaaacaaaccgaccagcccaaagcacagggtcaagaaagtgactcatcagagacctctgtgcgaggaccccggattaaacatgtctgcagaagagcagctgttgcccttggccgaaaacgagctgtgtttcctgatgacatgcccaccctgagtgccttaccatgggaagaacgagaaaagattttgtcttccatggggaatgatgacaagtcatcaattgctggctcagaagatgctgaacctcttgctccacccatcaaaccaattaaacctgtcactagaaacaaggcaccccaggaacctccagtaaagaaaggacgtcgatcgaggcggtgtgggcagtgtcccggctgccaggtgcctgaggactgtggtgtttgtactaattgcttagataagcccaagtttggtggtcgcaatataaagaagcagtgctgcaagatgagaaaatgtcagaatctacaatggatgccttccaaagcctacctgcagaagcaagctaaagctgtgaaaaagaaagagaaaaagtctaagaccagtgaaaagaaagacagcaaagagagcagtgttgtgaagaacgtggtggactctagtcagaaacctaccccatcagcaagagaggatcctgccccaaagaaaagcagtagtgagcctcctccacgaaagcccgtcgaggaaaagagtgaagaagggaatgtctcggcccctgggcctgaatccaaacaggccaccactccagcttccaggaagtcaagcaagcaggtctcccagccagcactggtcatcccgcctcagccacctactacaggaccgccaagaaaagaagttcccaaaaccactcctagtgagcccaagaaaaagcagcctccaccaccagaatcaggtccagagcagagcaaacagaaaaaagtggctccccgcccaagtatccctgtaaaacaaaaaccaaaagaaaaggaaaaaccacctccggtcaataagcaggagaatgcaggcactttgaacatcctcagcactctctccaatggcaatagttctaagcaaaaaattccagcagatggagtccacaggatcagagtggactttaaggaggattgtgaagcagaaaatgtgtgggagatgggaggcttaggaatcttgacttctgttcctataacacccagggtggtttgctttctctgtgccagtagtgggcatgtagagtttgtgtattgccaagtctgttgtgagcccttccacaagttttgtttagaggagaacgagcgccctctggaggaccagctggaaaattggtgttgtcgtcgttgcaaattctgtcacgtttgtggaaggcaacatcaggctacaaagcagctgctggagtgtaataagtgccgaaacagctatcaccctgagtgcctgggaccaaactaccccaccaaacccacaaagaagaagaaagtctggatctgtaccaagtgtgttcgctgtaagagctgtggatccacaactccaggcaaagggtgggatgcacagtggtctcatgatttctcactgtgtcatgattgcgccaagctctttgctaaaggaaacttctgccctctctgtgacaaatgttatgatgatgatgactatgagagtaagatgatgcaatgtggaaagtgtgatcgctgggtccattccaaatgtgagaatctttcagatgagatgtatgagattctatctaatctgccagaaagtgtggcctacacttgtgtgaactgtactgagcggcaccctgcagagtggcgactggcccttgaaaaagagctgcagatttctctgaagcaagttctgacagctttgttgaattctcggactaccagccat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//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4297 -> Molecular function: GO:0003680 [AT DNA binding] evidence: NAS
GeneID:4297 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
GeneID:4297 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:4297 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IDA
GeneID:4297 -> Molecular function: GO:0042800 [histone methyltransferase activity (H3-K4 specific)] evidence: IDA
GeneID:4297 -> Molecular function: GO:0042800 [histone methyltransferase activity (H3-K4 specific)] evidence: IMP
GeneID:4297 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
GeneID:4297 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IDA
GeneID:4297 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IDA
GeneID:4297 -> Molecular function: GO:0045322 [unmethylated CpG binding] evidence: IDA
GeneID:4297 -> Molecular function: GO:0070577 [histone acetyl-lysine binding] evidence: IDA
GeneID:4297 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
GeneID:4297 -> Biological process: GO:0006461 [protein complex assembly] evidence: IDA
GeneID:4297 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:4297 -> Biological process: GO:0032411 [positive regulation of transporter activity] evidence: IMP
GeneID:4297 -> Biological process: GO:0035162 [embryonic hemopoiesis] evidence: TAS
GeneID:4297 -> Biological process: GO:0043984 [histone H4-K16 acetylation] evidence: IMP
GeneID:4297 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IMP
GeneID:4297 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IDA
GeneID:4297 -> Biological process: GO:0051568 [histone H3-K4 methylation] evidence: IDA
GeneID:4297 -> Biological process: GO:0051568 [histone H3-K4 methylation] evidence: IMP
GeneID:4297 -> Biological process: GO:0080182 [histone H3-K4 trimethylation] evidence: IDA
GeneID:4297 -> Biological process: GO:2001040 [positive regulation of cellular response to drug] evidence: IMP
GeneID:4297 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4297 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
GeneID:4297 -> Cellular component: GO:0035097 [histone methyltransferase complex] evidence: IDA
GeneID:4297 -> Cellular component: GO:0071339 [MLL1 complex] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_005924 -> EC 2.1.1.43
by
@meso_cacase at
DBCLS
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