ClinVar Miner

List of variants in gene KMT2D studied for Kabuki syndrome

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Gene type:
ClinVar version:
Total variants: 322
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HGVS dbSNP
NM_003482.3(KMT2D):c.*1026G>T rs886049465
NM_003482.3(KMT2D):c.*1041G>T rs563489548
NM_003482.3(KMT2D):c.*1043del rs886049464
NM_003482.3(KMT2D):c.*108G>C rs886049470
NM_003482.3(KMT2D):c.*127C>G rs886049469
NM_003482.3(KMT2D):c.*1322A>G rs886049463
NM_003482.3(KMT2D):c.*1505T>G rs886049462
NM_003482.3(KMT2D):c.*1529G>C rs765434154
NM_003482.3(KMT2D):c.*1540A>G rs12315734
NM_003482.3(KMT2D):c.*1693G>A rs886049461
NM_003482.3(KMT2D):c.*1694A>T rs886049460
NM_003482.3(KMT2D):c.*1982T>A rs886049459
NM_003482.3(KMT2D):c.*1982del rs879897260
NM_003482.3(KMT2D):c.*2044C>A rs190063096
NM_003482.3(KMT2D):c.*204C>G rs886049468
NM_003482.3(KMT2D):c.*2077G>A rs7975791
NM_003482.3(KMT2D):c.*207C>T rs546353502
NM_003482.3(KMT2D):c.*2146C>A rs559450337
NM_003482.3(KMT2D):c.*2208T>C rs77945935
NM_003482.3(KMT2D):c.*2354G>T rs537330938
NM_003482.3(KMT2D):c.*2387C>T rs553627354
NM_003482.3(KMT2D):c.*296del rs745739172
NM_003482.3(KMT2D):c.*298C>T rs886049467
NM_003482.3(KMT2D):c.*362C>T rs532505729
NM_003482.3(KMT2D):c.*455A>C rs886049466
NM_003482.3(KMT2D):c.*456C>G rs564266476
NM_003482.3(KMT2D):c.*463dup rs201717312
NM_003482.3(KMT2D):c.*69G>T rs886049471
NM_003482.3(KMT2D):c.*815C>T rs192035980
NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) rs80149580
NM_003482.3(KMT2D):c.10179G>A (p.Pro3393=) rs368612015
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10502T>G (p.Val3501Gly) rs1565781216
NM_003482.3(KMT2D):c.10570C>T (p.Gln3524Ter) rs1565780936
NM_003482.3(KMT2D):c.10599T>C (p.Gly3533=) rs751946037
NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) rs61942218
NM_003482.3(KMT2D):c.10704_10705AG[3] (p.Gln3570fs)
NM_003482.3(KMT2D):c.10741-7A>G rs550510739
NM_003482.3(KMT2D):c.1076G>A (p.Arg359His) rs779668384
NM_003482.3(KMT2D):c.10774A>G (p.Met3592Val) rs372758101
NM_003482.3(KMT2D):c.10836G>A (p.Gln3612=) rs3782357
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11162_11167TGCAGC[3] (p.3721_3722LQ[3]) rs771711980
NM_003482.3(KMT2D):c.11178A>G (p.Gln3726=) rs753715045
NM_003482.3(KMT2D):c.11195A>G (p.Gln3732Arg) rs886049477
NM_003482.3(KMT2D):c.11313C>A (p.Pro3771=) rs200639395
NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424
NM_003482.3(KMT2D):c.11408G>C (p.Gly3803Ala)
NM_003482.3(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.3(KMT2D):c.1155C>T (p.Pro385=) rs545791832
NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195
NM_003482.3(KMT2D):c.11670C>T (p.Ser3890=) rs376471354
NM_003482.3(KMT2D):c.11671G>A (p.Ala3891Thr) rs886049476
NM_003482.3(KMT2D):c.11681T>C (p.Met3894Thr) rs1443728446
NM_003482.3(KMT2D):c.11723_11728AGCAAC[1] (p.Gln3910_Gln3911del) rs398123709
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.11755C>T (p.Gln3919Ter) rs1555188501
NM_003482.3(KMT2D):c.11812C>T (p.Gln3938Ter) rs1350605713
NM_003482.3(KMT2D):c.11850_11852GCA[1] (p.Gln3954del) rs886049475
NM_003482.3(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989
NM_003482.3(KMT2D):c.11881C>T (p.Gln3961Ter) rs1565776616
NM_003482.3(KMT2D):c.11945G>C (p.Arg3982Pro) rs760983900
NM_003482.3(KMT2D):c.11968C>T (p.Gln3990Ter)
NM_003482.3(KMT2D):c.11971C>T (p.Gln3991Ter)
NM_003482.3(KMT2D):c.12019C>T (p.Gln4007Ter) rs188017299
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12084C>T (p.Thr4028=) rs553360102
NM_003482.3(KMT2D):c.12339A>G (p.Gly4113=)
NM_003482.3(KMT2D):c.12478C>G (p.Leu4160Val) rs1437975816
NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) rs3741622
NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963
NM_003482.3(KMT2D):c.1259-13G>A rs373466438
NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.3(KMT2D):c.12626C>T (p.Pro4209Leu)
NM_003482.3(KMT2D):c.12682C>G (p.Gln4228Glu) rs745466012
NM_003482.3(KMT2D):c.12691C>T (p.Leu4231=) rs760205474
NM_003482.3(KMT2D):c.12705G>A (p.Gln4235=) rs905791071
NM_003482.3(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714
NM_003482.3(KMT2D):c.12715C>T (p.Gln4239Ter)
NM_003482.3(KMT2D):c.12780A>G (p.Gln4260=) rs555842651
NM_003482.3(KMT2D):c.12803G>A (p.Gly4268Glu) rs368301050
NM_003482.3(KMT2D):c.12807_12810ACAG[1] (p.Thr4271fs)
NM_003482.3(KMT2D):c.12867C>T (p.Leu4289=) rs202082835
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.12945A>C (p.Gln4315His) rs886049474
NM_003482.3(KMT2D):c.12985C>T (p.Gln4329Ter) rs1555187758
NM_003482.3(KMT2D):c.13071G>C (p.Arg4357Ser) rs533214351
NM_003482.3(KMT2D):c.13095T>C (p.Leu4365=) rs767751775
NM_003482.3(KMT2D):c.13102A>G (p.Thr4368Ala) rs189357192
NM_003482.3(KMT2D):c.13259G>A (p.Arg4420Gln) rs375999143
NM_003482.3(KMT2D):c.13361del (p.Pro4454fs) rs1565771606
NM_003482.3(KMT2D):c.13386C>T (p.Leu4462=) rs759673318
NM_003482.3(KMT2D):c.13457A>G (p.Glu4486Gly) rs886049473
NM_003482.3(KMT2D):c.1345_1346del (p.Leu449fs) rs1555197682
NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.3(KMT2D):c.13630G>A (p.Gly4544Arg) rs778793714
NM_003482.3(KMT2D):c.13633G>T (p.Val4545Phe) rs753655111
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13671+10dup rs147210845
NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) rs11168830
NM_003482.3(KMT2D):c.1378C>A (p.Pro460Thr) rs201089405
NM_003482.3(KMT2D):c.13833_13837dup (p.Lys4613fs) rs1555187105
NM_003482.3(KMT2D):c.13895dup (p.Ser4633fs)
NM_003482.3(KMT2D):c.14075+11G>C rs770360649
NM_003482.3(KMT2D):c.14076-2A>C
NM_003482.3(KMT2D):c.14161C>T (p.Arg4721Cys) rs777064703
NM_003482.3(KMT2D):c.14202C>T (p.Asp4734=) rs200979074
NM_003482.3(KMT2D):c.14203C>T (p.Arg4735Trp) rs751383638
NM_003482.3(KMT2D):c.14207C>T (p.Ala4736Val) rs886049472
NM_003482.3(KMT2D):c.14238G>A (p.Arg4746=) rs75340924
NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210
NM_003482.3(KMT2D):c.14358_14359CA[1] (p.Thr4787fs) rs1555186436
NM_003482.3(KMT2D):c.14436C>T (p.Pro4812=) rs369799687
NM_003482.3(KMT2D):c.1446A>G (p.Ala482=) rs781413067
NM_003482.3(KMT2D):c.14643+12G>A rs186670730
NM_003482.3(KMT2D):c.14644-3C>G rs1555186093
NM_003482.3(KMT2D):c.1467G>A (p.Leu489=)
NM_003482.3(KMT2D):c.14688C>A (p.Tyr4896Ter) rs1555186079
NM_003482.3(KMT2D):c.1468_1471del (p.Glu490fs)
NM_003482.3(KMT2D):c.14700del (p.Leu4901fs) rs1555186066
NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.3(KMT2D):c.14823_14825delinsTGTT (p.Leu4941fs)
NM_003482.3(KMT2D):c.14883C>T (p.Pro4961=) rs770276955
NM_003482.3(KMT2D):c.15050dup (p.Thr5018fs)
NM_003482.3(KMT2D):c.15085A>C (p.Met5029Leu) rs540734063
NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) rs373414243
NM_003482.3(KMT2D):c.15120C>T (p.Asp5040=) rs143955226
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) rs398123726
NM_003482.3(KMT2D):c.1529C>G (p.Ser510Ter)
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.3(KMT2D):c.15540G>C (p.Val5180=) rs149393179
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15686G>A (p.Arg5229His) rs201628357
NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058
NM_003482.3(KMT2D):c.15786C>T (p.Ala5262=) rs531361015
NM_003482.3(KMT2D):c.15921+1G>A rs1555185299
NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) rs55776396
NM_003482.3(KMT2D):c.16052G>A (p.Arg5351Gln) rs1555185217
NM_003482.3(KMT2D):c.16338+2T>C rs1555184777
NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) rs886041398
NM_003482.3(KMT2D):c.16566G>A (p.Lys5522=) rs757316408
NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) rs199798179
NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) rs371243627
NM_003482.3(KMT2D):c.175A>G (p.Ser59Gly) rs1555198862
NM_003482.3(KMT2D):c.1797G>A (p.Leu599=) rs113282510
NM_003482.3(KMT2D):c.1825del (p.Ser609fs)
NM_003482.3(KMT2D):c.1844C>G (p.Ser615Cys) rs1565819202
NM_003482.3(KMT2D):c.188T>C (p.Val63Ala) rs886049488
NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) rs147212187
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.1965C>A (p.Pro655=) rs200939188
NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) rs200116899
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.3(KMT2D):c.2220G>T (p.Gly740=) rs368986210
NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) rs200155807
NM_003482.3(KMT2D):c.2317dup (p.Gln773fs) rs1565817210
NM_003482.3(KMT2D):c.2340C>T (p.Cys780=) rs530563702
NM_003482.3(KMT2D):c.2406G>A (p.Glu802=) rs781090162
NM_003482.3(KMT2D):c.2420C>A (p.Ser807Tyr) rs757089451
NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307
NM_003482.3(KMT2D):c.2533del (p.Arg845fs) rs767415197
NM_003482.3(KMT2D):c.2671T>G (p.Leu891Val) rs886049485
NM_003482.3(KMT2D):c.2726C>T (p.Ser909Phe)
NM_003482.3(KMT2D):c.2737G>A (p.Glu913Lys) rs199724002
NM_003482.3(KMT2D):c.2798-7del rs112620957
NM_003482.3(KMT2D):c.2798-8C>G rs867926537
NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) rs2241726
NM_003482.3(KMT2D):c.2838G>A (p.Ala946=) rs376753331
NM_003482.3(KMT2D):c.295C>T (p.Pro99Ser) rs886049487
NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.3(KMT2D):c.2995A>G (p.Met999Val) rs368584537
NM_003482.3(KMT2D):c.307C>T (p.Pro103Ser)
NM_003482.3(KMT2D):c.3156C>T (p.Pro1052=) rs770342892
NM_003482.3(KMT2D):c.3161C>T (p.Pro1054Leu) rs758697574
NM_003482.3(KMT2D):c.3180G>T (p.Lys1060Asn) rs201568916
NM_003482.3(KMT2D):c.3181G>T (p.Val1061Leu) rs200450910
NM_003482.3(KMT2D):c.3298G>C (p.Asp1100His) rs745673119
NM_003482.3(KMT2D):c.3315_3325CCCCAGCCCTG[1] (p.Ala1109fs) rs1565813691
NM_003482.3(KMT2D):c.3352C>T (p.Leu1118=) rs765867951
NM_003482.3(KMT2D):c.3408G>A (p.Glu1136=) rs372234918
NM_003482.3(KMT2D):c.3471C>T (p.Pro1157=) rs770863450
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3688C>T (p.Pro1230Ser)
NM_003482.3(KMT2D):c.3704del (p.Gly1235fs) rs1364500207
NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115
NM_003482.3(KMT2D):c.3788C>G (p.Ser1263Ter)
NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) rs201794205
NM_003482.3(KMT2D):c.3819C>T (p.Cys1273=) rs373373098
NM_003482.3(KMT2D):c.3903del (p.Lys1301fs) rs1565812092
NM_003482.3(KMT2D):c.3976C>T (p.Arg1326Trp) rs886049484
NM_003482.3(KMT2D):c.4000T>G (p.Ser1334Ala) rs750081274
NM_003482.3(KMT2D):c.4020+13C>G rs184377216
NM_003482.3(KMT2D):c.4021-15CT[2] rs55776244
NM_003482.3(KMT2D):c.4089C>T (p.Thr1363=) rs369601017
NM_003482.3(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.3(KMT2D):c.4151_4152delinsAA (p.Gly1384Glu) rs1565809602
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4204C>T (p.Gln1402Ter) rs1555195442
NM_003482.3(KMT2D):c.4222T>G (p.Cys1408Gly) rs1555195432
NM_003482.3(KMT2D):c.4237-2A>G rs797045001
NM_003482.3(KMT2D):c.4359C>G (p.His1453Gln)
NM_003482.3(KMT2D):c.4400del (p.Gly1467fs)
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.4525_4528del (p.Ile1509fs)
NM_003482.3(KMT2D):c.4571G>A (p.Arg1524His) rs886049483
NM_003482.3(KMT2D):c.4584-10T>C rs755136735
NM_003482.3(KMT2D):c.4694C>T (p.Ala1565Val) rs200119692
NM_003482.3(KMT2D):c.477T>G (p.Gly159=) rs398123747
NM_003482.3(KMT2D):c.4812dup (p.Met1605fs) rs1555194510
NM_003482.3(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393
NM_003482.3(KMT2D):c.49+1del rs1565826250
NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) rs114731584
NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) rs201686029
NM_003482.3(KMT2D):c.5199_5206dup (p.Pro1736fs)
NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) rs111924728
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.5231G>A (p.Ser1744Asn) rs377119237
NM_003482.3(KMT2D):c.5251_5253AAG[2] (p.Lys1753del) rs886049482
NM_003482.3(KMT2D):c.5263C>T (p.Gln1755Ter) rs1565802369
NM_003482.3(KMT2D):c.5319+1G>A
NM_003482.3(KMT2D):c.5319+3G>A rs372897046
NM_003482.3(KMT2D):c.5492A>T (p.Asp1831Val) rs367762013
NM_003482.3(KMT2D):c.5594C>T (p.Thr1865Ile) rs886049481
NM_003482.3(KMT2D):c.5648T>C (p.Leu1883Pro) rs370219057
NM_003482.3(KMT2D):c.5868-1G>A
NM_003482.3(KMT2D):c.5868-8C>T rs75783546
NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) rs182887940
NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) rs77794669
NM_003482.3(KMT2D):c.6042G>T (p.Gln2014His) rs1161895683
NM_003482.3(KMT2D):c.6114G>A (p.Trp2038Ter)
NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948
NM_003482.3(KMT2D):c.624A>G (p.Lys208=) rs1565823783
NM_003482.3(KMT2D):c.6264del (p.Lys2089fs) rs1555192996
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) rs377392943
NM_003482.3(KMT2D):c.6416C>T (p.Ala2139Val) rs754730634
NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) rs563981206
NM_003482.3(KMT2D):c.6496C>T (p.Gln2166Ter)
NM_003482.3(KMT2D):c.6508del (p.Gln2170fs)
NM_003482.3(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6585C>T (p.Thr2195=) rs760993744
NM_003482.3(KMT2D):c.6594del (p.Tyr2199fs) rs1555192751
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744
NM_003482.3(KMT2D):c.6673dup (p.Glu2225fs) rs1555192667
NM_003482.3(KMT2D):c.6704G>A (p.Arg2235Lys) rs551403860
NM_003482.3(KMT2D):c.6705_6706AC[3] (p.Gln2237fs)
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.682C>G (p.Arg228Gly) rs201994402
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_003482.3(KMT2D):c.6868G>A (p.Glu2290Lys) rs886049480
NM_003482.3(KMT2D):c.695G>C (p.Cys232Ser) rs886049486
NM_003482.3(KMT2D):c.6991dup (p.Leu2331fs)
NM_003482.3(KMT2D):c.7036G>A (p.Gly2346Ser) rs761219768
NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582
NM_003482.3(KMT2D):c.7060C>T (p.Pro2354Ser) rs369458206
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.3(KMT2D):c.7122C>T (p.Tyr2374=) rs765895211
NM_003482.3(KMT2D):c.713del (p.Leu238fs)
NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626
NM_003482.3(KMT2D):c.7169C>T (p.Pro2390Leu)
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) rs3741625
NM_003482.3(KMT2D):c.7183_7214delinsACT (p.Cys2395fs)
NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) rs111305262
NM_003482.3(KMT2D):c.7202G>A (p.Arg2401His) rs375115132
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7411C>T (p.Arg2471Ter) rs1057518571
NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819
NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) rs10747559
NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) rs376603595
NM_003482.3(KMT2D):c.7559G>A (p.Arg2520Gln)
NM_003482.3(KMT2D):c.7572G>A (p.Thr2524=) rs772878105
NM_003482.3(KMT2D):c.7607T>C (p.Phe2536Ser) rs199628497
NM_003482.3(KMT2D):c.7649C>A (p.Pro2550His)
NM_003482.3(KMT2D):c.7656T>C (p.Pro2552=) rs774043426
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410
NM_003482.3(KMT2D):c.7967T>C (p.Leu2656Ser)
NM_003482.3(KMT2D):c.7970C>T (p.Ala2657Val) rs200913080
NM_003482.3(KMT2D):c.8044C>T (p.Gln2682Ter)
NM_003482.3(KMT2D):c.8046+11A>G rs145186737
NM_003482.3(KMT2D):c.8047-15C>T rs202244933
NM_003482.3(KMT2D):c.8047-7dup rs200754433
NM_003482.3(KMT2D):c.8068C>T (p.Leu2690=) rs370846697
NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) rs116686402
NM_003482.3(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707
NM_003482.3(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.3(KMT2D):c.8156G>C (p.Ser2719Thr) rs199913341
NM_003482.3(KMT2D):c.8162G>A (p.Gly2721Asp)
NM_003482.3(KMT2D):c.8200C>T (p.Arg2734Ter)
NM_003482.3(KMT2D):c.8207_8210dup (p.Pro2738fs) rs1555191521
NM_003482.3(KMT2D):c.8230-14C>T rs755201719
NM_003482.3(KMT2D):c.839+3A>G rs1555198242
NM_003482.3(KMT2D):c.840-2A>G rs1555198201
NM_003482.3(KMT2D):c.8478_8488del (p.Thr2827fs) rs1565789522
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.8813C>T (p.Pro2938Leu) rs142395705
NM_003482.3(KMT2D):c.8901C>G (p.Pro2967=) rs767675707
NM_003482.3(KMT2D):c.8904G>A (p.Pro2968=) rs767700267
NM_003482.3(KMT2D):c.8953A>T (p.Lys2985Ter)
NM_003482.3(KMT2D):c.9266T>C (p.Val3089Ala) rs1565787643
NM_003482.3(KMT2D):c.9436G>A (p.Ala3146Thr) rs1555190522
NM_003482.3(KMT2D):c.9703_9704del (p.Lys3235fs) rs1555190324
NM_003482.3(KMT2D):c.9709G>A (p.Glu3237Lys) rs886049479
NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) rs183688784
NM_003482.3(KMT2D):c.9822_9824GCA[5] (p.Gln3282dup) rs768814728
NM_003482.3(KMT2D):c.9947del (p.Gly3316fs)
NM_003482.3(KMT2D):c.9958G>A (p.Ala3320Thr) rs763426078
NM_003482.3(KMT2D):c.9959C>T (p.Ala3320Val) rs886049478

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