ClinVar Miner

List of variants in gene KMT2D reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 640
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys) rs1227169455 0.00002
NM_003482.4(KMT2D):c.2994del (p.Pro998_Met999insTer) rs1057519595 0.00001
NM_003482.4(KMT2D):c.5468-1G>A rs759629535 0.00001
NM_003482.4(KMT2D):c.7411C>T (p.Arg2471Ter) rs1057518571 0.00001
GRCh37/hg19 12q13.12(chr12:49433507-49437211)x1
NM_003482.4(KMT2D):c.10018C>T (p.Gln3340Ter) rs2120477465
NM_003482.4(KMT2D):c.10109del (p.Gln3370fs) rs2120476270
NM_003482.4(KMT2D):c.1016G>A (p.Trp339Ter) rs2120692527
NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)
NM_003482.4(KMT2D):c.10252G>T (p.Glu3418Ter) rs1114167348
NM_003482.4(KMT2D):c.10258dup (p.Ile3420fs) rs1943140835
NM_003482.4(KMT2D):c.10295dup (p.Leu3432fs) rs2120461457
NM_003482.4(KMT2D):c.1033_1036del (p.Leu345fs) rs1592159322
NM_003482.4(KMT2D):c.1035_1036del (p.Cys346fs)
NM_003482.4(KMT2D):c.10369_10370del (p.Leu3457fs) rs1555189455
NM_003482.4(KMT2D):c.10394del (p.Gly3465fs) rs1284500089
NM_003482.4(KMT2D):c.10394dup (p.Pro3466fs)
NM_003482.4(KMT2D):c.1047T>A (p.Cys349Ter)
NM_003482.4(KMT2D):c.10496_10497del (p.Gln3499fs)
NM_003482.4(KMT2D):c.10538G>A (p.Trp3513Ter) rs2120455070
NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter) rs2120454881
NM_003482.4(KMT2D):c.10570C>T (p.Gln3524Ter) rs1565780936
NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro) rs1555189307
NM_003482.4(KMT2D):c.10582C>G (p.Leu3528Val)
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro)
NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) rs398123699
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) rs1943099362
NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs) rs1592123162
NM_003482.4(KMT2D):c.10625T>C (p.Leu3542Pro)
NM_003482.4(KMT2D):c.10638del (p.Gln3546fs) rs2120453226
NM_003482.4(KMT2D):c.10658G>T (p.Gly3553Val)
NM_003482.4(KMT2D):c.10685_10688dup (p.Leu3564fs) rs2120452118
NM_003482.4(KMT2D):c.10688dup (p.Leu3564fs) rs1943096023
NM_003482.4(KMT2D):c.10694del (p.Lys3565fs) rs1943095795
NM_003482.4(KMT2D):c.10706_10707dup (p.Gln3570fs) rs1592123024
NM_003482.4(KMT2D):c.10740+1G>A rs2120450900
NM_003482.4(KMT2D):c.10740G>T (p.Gln3580His) rs398123700
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln) rs2120449499
NM_003482.4(KMT2D):c.10777del (p.Ala3593fs) rs1592122640
NM_003482.4(KMT2D):c.10810C>T (p.Gln3604Ter) rs1060499552
NM_003482.4(KMT2D):c.10813C>T (p.Gln3605Ter)
NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter) rs398123701
NM_003482.4(KMT2D):c.10825C>T (p.Gln3609Ter)
NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter) rs398123702
NM_003482.4(KMT2D):c.10841C>G (p.Ser3614Ter) rs758877211
NM_003482.4(KMT2D):c.10858dup (p.Ser3620fs) rs1943078129
NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) rs1565779530
NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs) rs35493001
NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) rs398123704
NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) rs398123706
NM_003482.4(KMT2D):c.11203C>T (p.Gln3735Ter) rs1943059195
NM_003482.4(KMT2D):c.11214del (p.Gln3738fs) rs1555188885
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter) rs587783681
NM_003482.4(KMT2D):c.11266C>T (p.Gln3756Ter)
NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter) rs863224890
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.4(KMT2D):c.11320C>T (p.Gln3774Ter) rs2120442365
NM_003482.4(KMT2D):c.11359dup (p.Val3787fs) rs2120442038
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs) rs587783683
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter) rs786205478
NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.4(KMT2D):c.11425del (p.Val3809fs) rs1943046189
NM_003482.4(KMT2D):c.11435_11457del (p.Gln3812fs)
NM_003482.4(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.4(KMT2D):c.11455_11467del (p.Gly3819fs)
NM_003482.4(KMT2D):c.11461C>T (p.Gln3821Ter) rs2120441127
NM_003482.4(KMT2D):c.11475_11478del (p.Gln3826fs) rs1057519067
NM_003482.4(KMT2D):c.1147del (p.Asp383fs)
NM_003482.4(KMT2D):c.11515C>T (p.Gln3839Ter) rs1555188653
NM_003482.4(KMT2D):c.11515dup (p.Gln3839fs)
NM_003482.4(KMT2D):c.11519dup (p.Ala3841fs) rs1555188651
NM_003482.4(KMT2D):c.11524C>T (p.Gln3842Ter) rs1943040858
NM_003482.4(KMT2D):c.11547_11557dup (p.Val3853fs) rs1555188623
NM_003482.4(KMT2D):c.11578C>T (p.Gln3860Ter) rs1371371699
NM_003482.4(KMT2D):c.11594_11602delinsC (p.Gln3865fs) rs1943032394
NM_003482.4(KMT2D):c.11597dup (p.Gln3867fs) rs1943033366
NM_003482.4(KMT2D):c.11632C>T (p.Gln3878Ter) rs1397969096
NM_003482.4(KMT2D):c.11675dup (p.Pro3893fs)
NM_003482.4(KMT2D):c.11679del (p.Met3894fs) rs1943027165
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11713C>T (p.Gln3905Ter) rs886042253
NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter) rs2120437427
NM_003482.4(KMT2D):c.11740C>T (p.Gln3914Ter) rs2120437244
NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.4(KMT2D):c.11749C>T (p.Gln3917Ter) rs1555188515
NM_003482.4(KMT2D):c.11755C>T (p.Gln3919Ter) rs1555188501
NM_003482.4(KMT2D):c.11764C>T (p.Gln3922Ter)
NM_003482.4(KMT2D):c.11769del (p.Gln3923fs) rs1943016958
NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter) rs886041106
NM_003482.4(KMT2D):c.11770dup (p.Gln3924fs) rs1943016320
NM_003482.4(KMT2D):c.11806C>T (p.Gln3936Ter)
NM_003482.4(KMT2D):c.11812C>T (p.Gln3938Ter) rs1350605713
NM_003482.4(KMT2D):c.11827C>T (p.Gln3943Ter) rs1943006802
NM_003482.4(KMT2D):c.11829del (p.Gln3943fs)
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter) rs797045658
NM_003482.4(KMT2D):c.11851C>T (p.Gln3951Ter) rs1943001493
NM_003482.4(KMT2D):c.11866C>T (p.Gln3956Ter)
NM_003482.4(KMT2D):c.11881C>T (p.Gln3961Ter) rs1565776616
NM_003482.4(KMT2D):c.11890C>T (p.Gln3964Ter)
NM_003482.4(KMT2D):c.11902C>T (p.Gln3968Ter) rs1942993834
NM_003482.4(KMT2D):c.11938C>T (p.Gln3980Ter)
NM_003482.4(KMT2D):c.11939del (p.Gln3980fs) rs794727610
NM_003482.4(KMT2D):c.1193del (p.Gly398fs)
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.11962C>T (p.Gln3988Ter)
NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter) rs1592118976
NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter) rs1592118953
NM_003482.4(KMT2D):c.11977C>T (p.Gln3993Ter) rs749377569
NM_003482.4(KMT2D):c.12019C>T (p.Gln4007Ter) rs188017299
NM_003482.4(KMT2D):c.12027_12028del (p.Phe4009_Ser4010insTer)
NM_003482.4(KMT2D):c.12066_12067insTCAG (p.Gly4023fs) rs1592118753
NM_003482.4(KMT2D):c.12165del (p.Glu4056fs) rs1942972419
NM_003482.4(KMT2D):c.12183del (p.Glu4061fs) rs1942971523
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.12301C>T (p.Gln4101Ter) rs1942965341
NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter) rs1555188129
NM_003482.4(KMT2D):c.12309_12310delinsTT (p.Gln4103_Gln4104delinsHisTer) rs2120430888
NM_003482.4(KMT2D):c.12335del (p.Gly4112fs) rs1942962939
NM_003482.4(KMT2D):c.12370_12382del (p.Ser4124fs) rs1942960710
NM_003482.4(KMT2D):c.12394dup (p.His4132fs)
NM_003482.4(KMT2D):c.12395del (p.His4132fs)
NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter) rs398123711
NM_003482.4(KMT2D):c.12414dup (p.Val4139fs) rs1942959186
NM_003482.4(KMT2D):c.12415_12416del (p.Val4139fs) rs2120430055
NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter) rs398123712
NM_003482.4(KMT2D):c.12442_12455del (p.Met4148fs) rs1942957967
NM_003482.4(KMT2D):c.12466C>T (p.Gln4156Ter) rs1131691768
NM_003482.4(KMT2D):c.12466del (p.Gln4156fs)
NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.4(KMT2D):c.12481del (p.Glu4161fs) rs794727611
NM_003482.4(KMT2D):c.1248del (p.Lys417fs)
NM_003482.4(KMT2D):c.1257del (p.Ala422fs) rs1938140093
NM_003482.4(KMT2D):c.1259-2A>G rs1057520573
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.12598C>T (p.Gln4200Ter) rs1942949318
NM_003482.4(KMT2D):c.12600_12604dup (p.Gln4202fs) rs1942949098
NM_003482.4(KMT2D):c.12661C>T (p.Gln4221Ter) rs1060499669
NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) rs1555187956
NM_003482.4(KMT2D):c.12700_12701del (p.Gln4235fs) rs1942942020
NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter) rs1592117125
NM_003482.4(KMT2D):c.12730C>T (p.Gln4244Ter) rs1555187899
NM_003482.4(KMT2D):c.12737del (p.Pro4246fs) rs2120426821
NM_003482.4(KMT2D):c.12745C>T (p.Gln4249Ter)
NM_003482.4(KMT2D):c.12757dup (p.Leu4253fs) rs1942938251
NM_003482.4(KMT2D):c.12760C>T (p.Gln4254Ter)
NM_003482.4(KMT2D):c.12778C>T (p.Gln4260Ter) rs1565773662
NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.4(KMT2D):c.12811_12814del (p.Thr4271fs) rs1592116886
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.12863_12869del (p.Arg4288fs)
NM_003482.4(KMT2D):c.12878_12893del (p.Pro4293fs) rs1565773113
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.4(KMT2D):c.12943C>T (p.Gln4315Ter) rs1942924286
NM_003482.4(KMT2D):c.12944_12945del (p.Gln4315fs) rs1592116475
NM_003482.4(KMT2D):c.12955A>T (p.Arg4319Ter) rs1942923153
NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs) rs587783687
NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter) rs587783688
NM_003482.4(KMT2D):c.12964C>T (p.Gln4322Ter) rs376217891
NM_003482.4(KMT2D):c.12985C>T (p.Gln4329Ter) rs1555187758
NM_003482.4(KMT2D):c.13004_13007del (p.Gln4335fs)
NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer) rs398123715
NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) rs398123715
NM_003482.4(KMT2D):c.13014del (p.Thr4339fs) rs1942919472
NM_003482.4(KMT2D):c.1301del (p.Leu434fs) rs1555197738
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter)
NM_003482.4(KMT2D):c.13091del (p.Gln4364fs)
NM_003482.4(KMT2D):c.13177_13178del (p.Ser4393fs)
NM_003482.4(KMT2D):c.13177dup (p.Ser4393fs) rs1942910047
NM_003482.4(KMT2D):c.13201C>T (p.Gln4401Ter) rs1942908701
NM_003482.4(KMT2D):c.13207_13208del (p.Asn4403fs) rs1555187577
NM_003482.4(KMT2D):c.13225G>T (p.Glu4409Ter) rs1942907207
NM_003482.4(KMT2D):c.13239_13240insT (p.Ser4414Ter) rs2120420448
NM_003482.4(KMT2D):c.13285del (p.Gln4429fs) rs2120419993
NM_003482.4(KMT2D):c.13297dup (p.Arg4433fs) rs1942904418
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.13318del (p.Pro4439_Ile4440insTer)
NM_003482.4(KMT2D):c.13320del (p.Ile4440fs) rs1845429019
NM_003482.4(KMT2D):c.13324del (p.Ala4442fs) rs886043505
NM_003482.4(KMT2D):c.13361del (p.Pro4454fs) rs1565771606
NM_003482.4(KMT2D):c.1336del (p.Glu446fs)
NM_003482.4(KMT2D):c.13375_13397del (p.Gly4459fs)
NM_003482.4(KMT2D):c.13378del (p.His4460fs) rs1942899021
NM_003482.4(KMT2D):c.13390C>T (p.Gln4464Ter)
NM_003482.4(KMT2D):c.133del (p.Ser45fs) rs727503990
NM_003482.4(KMT2D):c.13411_13412del (p.Asn4471fs) rs1555187440
NM_003482.4(KMT2D):c.13441G>T (p.Glu4481Ter)
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.1345_1346del (p.Leu449fs) rs1555197682
NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs) rs1942891632
NM_003482.4(KMT2D):c.13518del (p.Ser4507fs) rs587783691
NM_003482.4(KMT2D):c.13543dup (p.Arg4515fs) rs1942880441
NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter) rs267607240
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.1363G>T (p.Glu455Ter) rs2120685231
NM_003482.4(KMT2D):c.1363del (p.Glu455fs) rs1938115946
NM_003482.4(KMT2D):c.13652_13660del (p.Leu4551_Gln4554delinsTer) rs1064796300
NM_003482.4(KMT2D):c.13780del (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs)
NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter) rs1555187117
NM_003482.4(KMT2D):c.13833_13837dup (p.Lys4613fs) rs1555187105
NM_003482.4(KMT2D):c.13884del (p.Thr4629fs) rs886040960
NM_003482.4(KMT2D):c.13884dup (p.Thr4629fs) rs886040960
NM_003482.4(KMT2D):c.13889del (p.Pro4630fs)
NM_003482.4(KMT2D):c.13889dup (p.Pro4631fs) rs2120403375
NM_003482.4(KMT2D):c.13895dup (p.Ser4633fs) rs1592112854
NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs) rs1555186842
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.4(KMT2D):c.13999+1G>A rs886041779
NM_003482.4(KMT2D):c.13999_13999+12del
NM_003482.4(KMT2D):c.14000del (p.Asp4667fs) rs1942780608
NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter)
NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)
NM_003482.4(KMT2D):c.14069_14075+1del rs1555186619
NM_003482.4(KMT2D):c.14071dup (p.Val4691fs) rs2120397732
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14076-1G>A rs1942763268
NM_003482.4(KMT2D):c.14113_14123del (p.Ile4705fs) rs2120393512
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.14194C>T (p.Gln4732Ter) rs1555186520
NM_003482.4(KMT2D):c.14216_14217del (p.Pro4739fs)
NM_003482.4(KMT2D):c.14251+1G>C
NM_003482.4(KMT2D):c.14272dup (p.Tyr4758fs) rs2120388148
NM_003482.4(KMT2D):c.14302A>T (p.Lys4768Ter)
NM_003482.4(KMT2D):c.14360_14361del (p.Thr4787fs) rs1555186436
NM_003482.4(KMT2D):c.14381A>G (p.Lys4794Arg)
NM_003482.4(KMT2D):c.14515+1del rs1942691966
NM_003482.4(KMT2D):c.14568G>A (p.Trp4856Ter) rs1565763192
NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter) rs1942683224
NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter) rs398123720
NM_003482.4(KMT2D):c.14644-3C>G rs1555186093
NM_003482.4(KMT2D):c.14688C>A (p.Tyr4896Ter) rs1555186079
NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs) rs1592157505
NM_003482.4(KMT2D):c.14700del (p.Leu4901fs) rs1555186066
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.4(KMT2D):c.14719_14731del (p.Ser4907fs)
NM_003482.4(KMT2D):c.14726del (p.Pro4909fs)
NM_003482.4(KMT2D):c.14753del (p.Pro4918fs) rs1592106879
NM_003482.4(KMT2D):c.14803G>T (p.Glu4935Ter) rs1404087769
NM_003482.4(KMT2D):c.14823_14825delinsTGTT (p.Leu4941fs) rs1592106640
NM_003482.4(KMT2D):c.14826dup (p.Glu4943Ter) rs1942639701
NM_003482.4(KMT2D):c.14843C>G (p.Ser4948Ter) rs940178682
NM_003482.4(KMT2D):c.1485_1486del (p.Pro496fs)
NM_003482.4(KMT2D):c.14867del (p.Pro4956fs) rs1592106511
NM_003482.4(KMT2D):c.14868del (p.Glu4957fs)
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs) rs797044744
NM_003482.4(KMT2D):c.1491_1492del (p.Pro497_Pro498insTer) rs2120682681
NM_003482.4(KMT2D):c.14923del (p.Arg4975fs) rs2120366654
NM_003482.4(KMT2D):c.14925dup (p.Pro4976fs)
NM_003482.4(KMT2D):c.14944del (p.Trp4982fs)
NM_003482.4(KMT2D):c.14945G>A (p.Trp4982Ter) rs1942631986
NM_003482.4(KMT2D):c.14971_14972insT (p.Arg4991fs)
NM_003482.4(KMT2D):c.14975del (p.Leu4992fs) rs1942629238
NM_003482.4(KMT2D):c.14976del (p.Leu4993fs) rs1592106220
NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter) rs2120365558
NM_003482.4(KMT2D):c.15013del (p.Asp5005fs) rs1942625813
NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs) rs398123722
NM_003482.4(KMT2D):c.15050dup (p.Thr5018fs) rs1592106062
NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs)
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15104G>A (p.Cys5035Tyr) rs398123723
NM_003482.4(KMT2D):c.15108_15110del (p.His5036_Glu5037delinsGln)
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter) rs1942616266
NM_003482.4(KMT2D):c.15172del (p.Val5058fs) rs794727689
NM_003482.4(KMT2D):c.15185G>A (p.Cys5062Tyr) rs1942615152
NM_003482.4(KMT2D):c.15194G>C (p.Trp5065Ser)
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter) rs587783696
NM_003482.4(KMT2D):c.15223_15227dup (p.Leu5077fs) rs2120362289
NM_003482.4(KMT2D):c.15239_15240del (p.Val5080fs) rs2120362095
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15289C>T (p.Arg5097Ter) rs1942608745
NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter) rs1592157335
NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly) rs1942604482
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.15473del (p.Glu5158fs)
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15545dup (p.Leu5183fs) rs1942591784
NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) rs398123728
NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) rs398123729
NM_003482.4(KMT2D):c.15641G>C (p.Arg5214Pro) rs398123729
NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) rs1942584412
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) rs2137715091
NM_003482.4(KMT2D):c.15708_15717delinsTA (p.Gly5237fs) rs886041660
NM_003482.4(KMT2D):c.1570del (p.Glu524fs)
NM_003482.4(KMT2D):c.15730A>T (p.Lys5244Ter) rs1942579666
NM_003482.4(KMT2D):c.15781C>T (p.Gln5261Ter) rs1942575636
NM_003482.4(KMT2D):c.15785-1G>C rs2137712168
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter) rs587783697
NM_003482.4(KMT2D):c.15834del (p.Asp5279fs) rs1592102369
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) rs587783698
NM_003482.4(KMT2D):c.15858_15859del (p.Tyr5287fs)
NM_003482.4(KMT2D):c.15878T>C (p.Leu5293Pro) rs1942496967
NM_003482.4(KMT2D):c.15902_15903del (p.Val5301fs) rs1565756561
NM_003482.4(KMT2D):c.15920C>G (p.Ser5307Ter) rs1942494207
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter) rs587783699
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) rs398123732
NM_003482.4(KMT2D):c.15970del (p.His5324fs) rs1942486898
NM_003482.4(KMT2D):c.16013G>A (p.Cys5338Tyr) rs2137710573
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln) rs1555185217
NM_003482.4(KMT2D):c.16084_16085del (p.Lys5362fs)
NM_003482.4(KMT2D):c.16109del (p.Gly5370fs) rs398123733
NM_003482.4(KMT2D):c.16116dup (p.Asn5373fs) rs1942391847
NM_003482.4(KMT2D):c.16149dup (p.Lys5384fs)
NM_003482.4(KMT2D):c.16154C>G (p.Ser5385Ter)
NM_003482.4(KMT2D):c.1616del (p.Pro539fs) rs1592157134
NM_003482.4(KMT2D):c.16170dup (p.Leu5391fs) rs2137707267
NM_003482.4(KMT2D):c.16184G>A (p.Trp5395Ter) rs886041558
NM_003482.4(KMT2D):c.16209_16222del (p.Ser5404fs) rs1592099335
NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys) rs2137706560
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp) rs1565753611
NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs) rs398123735
NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs) rs1555184787
NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.4(KMT2D):c.1634del (p.Leu545fs) rs886039399
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.4(KMT2D):c.16391_16392insAG (p.Leu5465fs)
NM_003482.4(KMT2D):c.16412+1G>T rs794727752
NM_003482.4(KMT2D):c.16437del (p.Asn5480fs) rs1555184635
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.1643del (p.Pro548fs)
NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr) rs1388523736
NM_003482.4(KMT2D):c.16445_16446del (p.Val5482fs) rs1942357670
NM_003482.4(KMT2D):c.16469_16470del (p.Lys5490fs) rs1555184624
NM_003482.4(KMT2D):c.16469_16472del (p.Lys5490fs) rs886041499
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.4(KMT2D):c.16515A>T (p.Gly5505=)
NM_003482.4(KMT2D):c.16522-1G>A rs1057520667
NM_003482.4(KMT2D):c.16522-2A>G
NM_003482.4(KMT2D):c.16522-5_16522-2del rs2137703007
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) rs1592162790
NM_003482.4(KMT2D):c.169del (p.Asp57fs) rs1938314766
NM_003482.4(KMT2D):c.1748del (p.Pro583fs) rs1938074857
NM_003482.4(KMT2D):c.176+1G>A rs1592162768
NM_003482.4(KMT2D):c.1762_1763del (p.Ser588fs) rs1938072820
NM_003482.4(KMT2D):c.177-1G>A
NM_003482.4(KMT2D):c.177-9_178del rs794727497
NM_003482.4(KMT2D):c.1782_1783dup (p.Glu595fs)
NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter) rs587783705
NM_003482.4(KMT2D):c.1814_1815del (p.Glu605fs) rs727503989
NM_003482.4(KMT2D):c.1825del (p.Ser609fs) rs1592156633
NM_003482.4(KMT2D):c.1845dup (p.Pro616fs) rs1555197320
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.1940dup (p.Pro648fs) rs770315135
NM_003482.4(KMT2D):c.1966del (p.Leu656fs) rs886042284
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.2007dup (p.Pro670fs)
NM_003482.4(KMT2D):c.204_205del (p.Leu68_Cys69insTer) rs1938301071
NM_003482.4(KMT2D):c.206del (p.Cys69fs) rs2120713201
NM_003482.4(KMT2D):c.2091dup (p.Thr698fs) rs1938028530
NM_003482.4(KMT2D):c.2141C>A (p.Ser714Ter) rs747636808
NM_003482.4(KMT2D):c.2164del (p.Glu722fs) rs1064796275
NM_003482.4(KMT2D):c.2173_2174del (p.Leu725fs) rs2120671121
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.2317C>T (p.Gln773Ter) rs758555274
NM_003482.4(KMT2D):c.2317dup (p.Gln773fs) rs1565817210
NM_003482.4(KMT2D):c.2488G>T (p.Glu830Ter) rs1286510393
NM_003482.4(KMT2D):c.2506dup (p.Gln836fs) rs1937965638
NM_003482.4(KMT2D):c.2533del (p.Arg845fs) rs767415197
NM_003482.4(KMT2D):c.2544del (p.Glu848fs) rs2120663922
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter) rs587783708
NM_003482.4(KMT2D):c.2579del (p.Leu860fs) rs1592153986
NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs) rs1555196720
NM_003482.4(KMT2D):c.2713del (p.Glu905fs) rs1064796995
NM_003482.4(KMT2D):c.273G>A (p.Trp91Ter) rs2120712071
NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs) rs797044630
NM_003482.4(KMT2D):c.2760_2782del (p.Gly921fs) rs1937935080
NM_003482.4(KMT2D):c.2782C>T (p.Gln928Ter) rs1937934886
NM_003482.4(KMT2D):c.2797+1G>A rs727503988
NM_003482.4(KMT2D):c.2871dup (p.Glu958fs)
NM_003482.4(KMT2D):c.2877C>G (p.Tyr959Ter) rs1937915973
NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs) rs797045660
NM_003482.4(KMT2D):c.297del (p.Ser102fs) rs1938291650
NM_003482.4(KMT2D):c.303del (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.303dup (p.Ser102fs) rs797045661
NM_003482.4(KMT2D):c.3109_3110del (p.Ser1037fs) rs1555196415
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.3190del (p.Val1064fs)
NM_003482.4(KMT2D):c.3292del (p.Met1098fs) rs1592152233
NM_003482.4(KMT2D):c.3318del (p.Ser1107fs) rs2120648164
NM_003482.4(KMT2D):c.3326_3336del (p.Ala1109fs) rs1565813691
NM_003482.4(KMT2D):c.3361del (p.Asp1121fs) rs2120647463
NM_003482.4(KMT2D):c.349C>T (p.Gln117Ter)
NM_003482.4(KMT2D):c.400+1G>C rs587783714
NM_003482.4(KMT2D):c.400+2T>C rs1938283570
NM_003482.4(KMT2D):c.401-2A>T rs1555198655
NM_003482.4(KMT2D):c.401-3A>G rs886041408
NM_003482.4(KMT2D):c.4093G>T (p.Val1365Phe) rs1937710190
NM_003482.4(KMT2D):c.4096_4099del (p.Leu1366fs)
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4142_4143del (p.Val1381fs) rs2120621151
NM_003482.4(KMT2D):c.4148G>A (p.Cys1383Tyr) rs1064794026
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4168del (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4204C>T (p.Gln1402Ter) rs1555195442
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter) rs1555195441
NM_003482.4(KMT2D):c.4221del (p.Cys1408fs) rs587783715
NM_003482.4(KMT2D):c.4237-2A>C rs797045001
NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter) rs794727143
NM_003482.4(KMT2D):c.4271G>C (p.Cys1424Ser) rs1057520740
NM_003482.4(KMT2D):c.4359C>A (p.His1453Gln) rs767737749
NM_003482.4(KMT2D):c.4379del (p.Pro1460fs) rs1240601136
NM_003482.4(KMT2D):c.4379dup (p.Leu1461fs) rs1240601136
NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)
NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.4(KMT2D):c.4400del (p.Gly1467fs) rs1592146526
NM_003482.4(KMT2D):c.4406G>A (p.Trp1469Ter) rs1943798591
NM_003482.4(KMT2D):c.4413C>G (p.Cys1471Trp)
NM_003482.4(KMT2D):c.4419-1G>C
NM_003482.4(KMT2D):c.4421G>T (p.Cys1474Phe) rs587783718
NM_003482.4(KMT2D):c.4454del (p.Pro1485fs)
NM_003482.4(KMT2D):c.4464del (p.Cys1489fs) rs2120605276
NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.4525_4528del (p.Ile1509fs) rs1592145939
NM_003482.4(KMT2D):c.466G>T (p.Glu156Ter) rs1057519422
NM_003482.4(KMT2D):c.4690del (p.Val1564fs) rs2120599595
NM_003482.4(KMT2D):c.4693+1G>T rs886041406
NM_003482.4(KMT2D):c.4739del (p.Pro1580fs) rs587783719
NM_003482.4(KMT2D):c.4812dup (p.Met1605fs) rs1555194510
NM_003482.4(KMT2D):c.4843C>T (p.Arg1615Ter) rs1943714221
NM_003482.4(KMT2D):c.4870del (p.Ala1624fs)
NM_003482.4(KMT2D):c.4941del (p.Asp1648fs) rs1555194443
NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs) rs797045667
NM_003482.4(KMT2D):c.50-2A>G
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.510G>A (p.Gln170=)
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter) rs794727342
NM_003482.4(KMT2D):c.5139del (p.Pro1714fs) rs886041627
NM_003482.4(KMT2D):c.5149C>T (p.Gln1717Ter) rs1157281284
NM_003482.4(KMT2D):c.5185G>T (p.Glu1729Ter) rs747363115
NM_003482.4(KMT2D):c.5189-2A>G
NM_003482.4(KMT2D):c.5199_5206dup (p.Pro1736fs) rs1592142239
NM_003482.4(KMT2D):c.525_535del (p.Cys175fs) rs1938253851
NM_003482.4(KMT2D):c.5263C>T (p.Gln1755Ter) rs1565802369
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5276_5277dup (p.Lys1760fs) rs2120575149
NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter) rs1592142093
NM_003482.4(KMT2D):c.5278_5279del (p.Lys1760fs) rs1064796043
NM_003482.4(KMT2D):c.5319+1G>T rs1057520722
NM_003482.4(KMT2D):c.538_539insA (p.Ala180fs) rs1938253506
NM_003482.4(KMT2D):c.5423del (p.Gly1808fs) rs794727379
NM_003482.4(KMT2D):c.5429dup (p.Gly1811fs)
NM_003482.4(KMT2D):c.544_548del (p.Ile182fs) rs1938252263
NM_003482.4(KMT2D):c.5467+5_5467+8del rs1064793884
NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.4(KMT2D):c.5526_5527del (p.Pro1844fs)
NM_003482.4(KMT2D):c.5526del (p.Asp1842fs) rs2120567609
NM_003482.4(KMT2D):c.5529_5530del (p.Pro1844fs)
NM_003482.4(KMT2D):c.5549dup (p.Val1851fs)
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5642_5644+1del rs2120563266
NM_003482.4(KMT2D):c.5645-2A>G rs398123750
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) rs794727420
NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter) rs886041405
NM_003482.4(KMT2D):c.5713C>T (p.Gln1905Ter) rs2120560322
NM_003482.4(KMT2D):c.5753_5782+7delinsTCTTCA rs2120559513
NM_003482.4(KMT2D):c.5764C>T (p.Gln1922Ter) rs1943600170
NM_003482.4(KMT2D):c.5775del (p.Leu1926fs) rs1943599403
NM_003482.4(KMT2D):c.5783-1G>A
NM_003482.4(KMT2D):c.5852del (p.Pro1951fs) rs1060499724
NM_003482.4(KMT2D):c.5867+5G>A rs1943591477
NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter) rs1592139573
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.4(KMT2D):c.595_604del (p.Thr199fs) rs1592161182
NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter) rs1393276376
NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter) rs1565798715
NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter) rs1592139221
NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs) rs1555198491
NM_003482.4(KMT2D):c.6073_6086del (p.Ala2024_Asn2025insTer) rs2120552933
NM_003482.4(KMT2D):c.6086del (p.Pro2029fs) rs587783723
NM_003482.4(KMT2D):c.6109+1G>C rs2120552710
NM_003482.4(KMT2D):c.6110-2A>G rs1943556576
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter) rs556669370
NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs) rs797045668
NM_003482.4(KMT2D):c.6172del (p.Ala2058fs) rs797045669
NM_003482.4(KMT2D):c.6177del (p.Tyr2060fs) rs2120551414
NM_003482.4(KMT2D):c.6180C>A (p.Tyr2060Ter) rs186577948
NM_003482.4(KMT2D):c.6183+3G>T
NM_003482.4(KMT2D):c.6183G>A (p.Leu2061=) rs1943551792
NM_003482.4(KMT2D):c.6239_6240insAGATCAACAAGCAGGTCTCCCCCTGT (p.Glu2081fs) rs1943530881
NM_003482.4(KMT2D):c.6241dup (p.Glu2081fs) rs2120548391
NM_003482.4(KMT2D):c.6264del (p.Lys2089fs) rs1555192996
NM_003482.4(KMT2D):c.6285dup (p.Lys2096Ter)
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6297_6300dup (p.Ala2101fs) rs1943527583
NM_003482.4(KMT2D):c.6323dup (p.Gln2109fs) rs2120547138
NM_003482.4(KMT2D):c.6354del (p.Ala2119fs) rs755159728
NM_003482.4(KMT2D):c.6404T>A (p.Leu2135Ter) rs1943518455
NM_003482.4(KMT2D):c.6423_6439del (p.Phe2142fs)
NM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter) rs1592137413
NM_003482.4(KMT2D):c.6508del (p.Gln2170fs) rs1592137369
NM_003482.4(KMT2D):c.6570dup (p.Thr2191fs)
NM_003482.4(KMT2D):c.6594del (p.Tyr2199fs) rs1555192751
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs) rs2120542630
NM_003482.4(KMT2D):c.6622C>T (p.Gln2208Ter) rs1943503824
NM_003482.4(KMT2D):c.6631dup (p.Met2211fs)
NM_003482.4(KMT2D):c.6664C>T (p.Gln2222Ter) rs1555192676
NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs) rs587783725
NM_003482.4(KMT2D):c.6673dup (p.Glu2225fs) rs1555192667
NM_003482.4(KMT2D):c.6707_6708dup (p.Gln2237fs) rs1592136884
NM_003482.4(KMT2D):c.673+1del rs2120702721
NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs)
NM_003482.4(KMT2D):c.6880dup (p.Ala2294fs)
NM_003482.4(KMT2D):c.6962T>G (p.Leu2321Ter) rs1943478443
NM_003482.4(KMT2D):c.6986_6987insT (p.Leu2331fs) rs2120534874
NM_003482.4(KMT2D):c.6991del (p.Pro2330_Leu2331insTer)
NM_003482.4(KMT2D):c.6991dup (p.Leu2331fs) rs1592136317
NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.4(KMT2D):c.7003dup (p.Ala2335fs)
NM_003482.4(KMT2D):c.7016_7043del (p.Glu2339fs) rs2120533487
NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter) rs1592136242
NM_003482.4(KMT2D):c.702dup (p.Pro235fs) rs1555198318
NM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter) rs398123757
NM_003482.4(KMT2D):c.709del (p.Glu237fs) rs1064793649
NM_003482.4(KMT2D):c.713del (p.Leu238fs) rs1592160494
NM_003482.4(KMT2D):c.7140del (p.Gln2380fs) rs398123758
NM_003482.4(KMT2D):c.7183_7214delinsACT (p.Cys2395fs) rs1592135715
NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)
NM_003482.4(KMT2D):c.721del (p.Leu241fs)
NM_003482.4(KMT2D):c.7223dup (p.Ser2409fs) rs1943461604
NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) rs1943461045
NM_003482.4(KMT2D):c.7306del (p.Cys2436fs) rs2120529379
NM_003482.4(KMT2D):c.7321dup (p.Thr2441fs)
NM_003482.4(KMT2D):c.7325del (p.Pro2442fs) rs1555192192
NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs) rs794727548
NM_003482.4(KMT2D):c.7378del (p.Arg2460fs) rs1943453335
NM_003482.4(KMT2D):c.7407_7408insT (p.Pro2470fs) rs2120527860
NM_003482.4(KMT2D):c.7425del (p.Glu2476fs)
NM_003482.4(KMT2D):c.7479del (p.Phe2494fs)
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.4(KMT2D):c.7505del (p.Pro2502fs)
NM_003482.4(KMT2D):c.751dup (p.Tyr251fs) rs1938216771
NM_003482.4(KMT2D):c.7570_7573dup (p.Gly2525fs)
NM_003482.4(KMT2D):c.7594del (p.Ser2532fs)
NM_003482.4(KMT2D):c.760del (p.Ala254fs) rs1938216114
NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs) rs1943436869
NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs) rs886043495
NM_003482.4(KMT2D):c.7650del (p.Val2551fs) rs2120522545
NM_003482.4(KMT2D):c.767del (p.Leu256fs)
NM_003482.4(KMT2D):c.7769C>A (p.Ser2590Ter) rs760007799
NM_003482.4(KMT2D):c.778del (p.Ala259_Leu260insTer) rs1938214848
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) rs794727549
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.4(KMT2D):c.7938del (p.Asp2647fs) rs1943409769
NM_003482.4(KMT2D):c.7985del (p.Pro2662fs)
NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)
NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter) rs1592133696
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) rs1555191598
NM_003482.4(KMT2D):c.8077C>T (p.Gln2693Ter)
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.4(KMT2D):c.81dup (p.Ala28fs)
NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter) rs1565790749
NM_003482.4(KMT2D):c.8207_8210dup (p.Pro2738fs) rs1555191521
NM_003482.4(KMT2D):c.8214del (p.Phe2739fs) rs1565790685
NM_003482.4(KMT2D):c.8229+1G>A rs1592133086
NM_003482.4(KMT2D):c.8230-1G>A rs1592132971
NM_003482.4(KMT2D):c.8263A>T (p.Lys2755Ter) rs1943374805
NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) rs1251778848
NM_003482.4(KMT2D):c.8311del (p.Arg2771fs)
NM_003482.4(KMT2D):c.8366+1G>A rs1057518149
NM_003482.4(KMT2D):c.8366+1G>T rs1057518149
NM_003482.4(KMT2D):c.8366+2T>C rs1943368267
NM_003482.4(KMT2D):c.8366+2T>G rs1943368267
NM_003482.4(KMT2D):c.836dup (p.Cys279fs) rs797045670
NM_003482.4(KMT2D):c.8386C>T (p.Gln2796Ter) rs1555191210
NM_003482.4(KMT2D):c.839+1del
NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.4(KMT2D):c.8430dup (p.Gln2811fs) rs1943354738
NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs) rs797045671
NM_003482.4(KMT2D):c.8478_8488del (p.Thr2827fs) rs1565789522
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.8529_8538del (p.Glu2844fs)
NM_003482.4(KMT2D):c.8549_8558delinsAA (p.Leu2850fs)
NM_003482.4(KMT2D):c.8564del (p.Ala2855fs) rs2120504102
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter) rs1592159924
NM_003482.4(KMT2D):c.8626C>T (p.Gln2876Ter)
NM_003482.4(KMT2D):c.8626del (p.Gln2876fs) rs1565789104
NM_003482.4(KMT2D):c.8650dup (p.Val2884fs) rs886041556
NM_003482.4(KMT2D):c.866T>A (p.Leu289Ter) rs2120694782
NM_003482.4(KMT2D):c.8696del (p.Gly2899fs) rs1057518186
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.4(KMT2D):c.8780C>G (p.Ser2927Ter) rs1943336569
NM_003482.4(KMT2D):c.8794_8795del (p.Gln2932fs) rs1565788703
NM_003482.4(KMT2D):c.8826del (p.Asn2943fs) rs1592131399
NM_003482.4(KMT2D):c.8841_8844del (p.His2947fs) rs1555190924
NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter) rs1592131106
NM_003482.4(KMT2D):c.9009dup (p.Glu3004fs)
NM_003482.4(KMT2D):c.9014_9015del (p.Asp3005fs) rs1943323407
NM_003482.4(KMT2D):c.9022G>T (p.Glu3008Ter) rs1943323180
NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs) rs886043252
NM_003482.4(KMT2D):c.9099del (p.Asn3034fs) rs1064796855
NM_003482.4(KMT2D):c.9136G>T (p.Glu3046Ter) rs1943319609
NM_003482.4(KMT2D):c.9223dup (p.Ser3075fs) rs1592130816
NM_003482.4(KMT2D):c.9265del (p.Val3089fs)
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs) rs1333678798
NM_003482.4(KMT2D):c.9322G>T (p.Glu3108Ter)
NM_003482.4(KMT2D):c.9367del (p.Glu3123fs) rs886041416
NM_003482.4(KMT2D):c.945del (p.Ser314_Trp315insTer) rs1565822457
NM_003482.4(KMT2D):c.9540del (p.Glu3181fs) rs797045672
NM_003482.4(KMT2D):c.955-1G>A
NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) rs1555190375
NM_003482.4(KMT2D):c.9703_9704del (p.Lys3235fs) rs1555190324
NM_003482.4(KMT2D):c.9716del (p.Ser3239fs)
NM_003482.4(KMT2D):c.9730G>T (p.Glu3244Ter) rs1258009682
NM_003482.4(KMT2D):c.9773del (p.Lys3258fs) rs2120482282
NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs) rs1943282614
NM_003482.4(KMT2D):c.9790C>T (p.Gln3264Ter) rs1009925927
NM_003482.4(KMT2D):c.9824dup (p.Gln3276fs) rs2120481036
NM_003482.4(KMT2D):c.9829C>T (p.Gln3277Ter) rs1943280408
NM_003482.4(KMT2D):c.9835C>T (p.Gln3279Ter) rs2120480689
NM_003482.4(KMT2D):c.9872_9882dup (p.Met3295fs) rs2120479652
NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs) rs1555190224
NM_003482.4(KMT2D):c.9947del (p.Gly3316fs) rs1592129138
NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512
NM_003482.4(KMT2D):c.9962_9993del (p.Arg3321fs)
NM_003482.4(KMT2D):c.9964C>T (p.Gln3322Ter) rs1592129081

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