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Items: 1 to 20 of 1000

1.

rs1486159420 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    11:118506508 (GRCh38)
    11:118377223 (GRCh37)
    Canonical SPDI:
    NC_000011.10:118506507:C:A
    Gene:
    KMT2A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000011.10:g.118506508C>A, NC_000011.9:g.118377223C>A, NG_027813.1:g.75019C>A, NM_005933.4:c.10607C>A, NM_005933.3:c.10607C>A, NM_001197104.2:c.10616C>A, NM_001197104.1:c.10616C>A, NW_003871072.2:g.131946C>A, XM_006718839.4:c.8099C>A, XM_006718839.3:c.8099C>A, XM_006718839.2:c.8099C>A, XM_006718839.1:c.7592C>A, XM_011542829.3:c.10715C>A, XM_011542829.2:c.10715C>A, XM_011542829.1:c.10715C>A, XM_011542830.3:c.10712C>A, XM_011542830.2:c.10712C>A, XM_011542830.1:c.10712C>A, XM_011542831.3:c.10706C>A, XM_011542831.2:c.10706C>A, XM_011542831.1:c.10706C>A, XM_011542833.3:c.8198C>A, XM_011542833.2:c.8198C>A, XM_011542833.1:c.8198C>A, XM_047426963.1:c.10703C>A, XM_047426964.1:c.8090C>A, NP_005924.2:p.Pro3536His, NP_001184033.1:p.Pro3539His, XP_006718902.2:p.Pro2700His, XP_011541131.1:p.Pro3572His, XP_011541132.1:p.Pro3571His, XP_011541133.1:p.Pro3569His, XP_011541135.1:p.Pro2733His, XP_047282919.1:p.Pro3568His, XP_047282920.1:p.Pro2697His

    2.

    rs1486015420 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:118505090 (GRCh38)
      11:118375805 (GRCh37)
      Canonical SPDI:
      NC_000011.10:118505089:T:C
      Gene:
      KMT2A (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1485835645 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        11:118504981 (GRCh38)
        11:118375696 (GRCh37)
        Canonical SPDI:
        NC_000011.10:118504980:G:A,NC_000011.10:118504980:G:C
        Gene:
        KMT2A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000028/1 (ALFA)
        A=0.000008/2 (GnomAD_exomes)
        A=0.000019/5 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        NC_000011.10:g.118504981G>A, NC_000011.10:g.118504981G>C, NC_000011.9:g.118375696G>A, NC_000011.9:g.118375696G>C, NG_027813.1:g.73492G>A, NG_027813.1:g.73492G>C, NM_005933.4:c.9080G>A, NM_005933.4:c.9080G>C, NM_005933.3:c.9080G>A, NM_005933.3:c.9080G>C, NM_001197104.2:c.9089G>A, NM_001197104.2:c.9089G>C, NM_001197104.1:c.9089G>A, NM_001197104.1:c.9089G>C, NW_003871072.2:g.130419G>A, NW_003871072.2:g.130419G>C, XM_006718839.4:c.6572G>A, XM_006718839.4:c.6572G>C, XM_006718839.3:c.6572G>A, XM_006718839.3:c.6572G>C, XM_006718839.2:c.6572G>A, XM_006718839.2:c.6572G>C, XM_006718839.1:c.6065G>A, XM_006718839.1:c.6065G>C, XM_011542829.3:c.9188G>A, XM_011542829.3:c.9188G>C, XM_011542829.2:c.9188G>A, XM_011542829.2:c.9188G>C, XM_011542829.1:c.9188G>A, XM_011542829.1:c.9188G>C, XM_011542830.3:c.9185G>A, XM_011542830.3:c.9185G>C, XM_011542830.2:c.9185G>A, XM_011542830.2:c.9185G>C, XM_011542830.1:c.9185G>A, XM_011542830.1:c.9185G>C, XM_011542831.3:c.9179G>A, XM_011542831.3:c.9179G>C, XM_011542831.2:c.9179G>A, XM_011542831.2:c.9179G>C, XM_011542831.1:c.9179G>A, XM_011542831.1:c.9179G>C, XM_011542833.3:c.6671G>A, XM_011542833.3:c.6671G>C, XM_011542833.2:c.6671G>A, XM_011542833.2:c.6671G>C, XM_011542833.1:c.6671G>A, XM_011542833.1:c.6671G>C, XM_047426963.1:c.9176G>A, XM_047426963.1:c.9176G>C, XM_047426964.1:c.6563G>A, XM_047426964.1:c.6563G>C, NP_005924.2:p.Ser3027Asn, NP_005924.2:p.Ser3027Thr, NP_001184033.1:p.Ser3030Asn, NP_001184033.1:p.Ser3030Thr, XP_006718902.2:p.Ser2191Asn, XP_006718902.2:p.Ser2191Thr, XP_011541131.1:p.Ser3063Asn, XP_011541131.1:p.Ser3063Thr, XP_011541132.1:p.Ser3062Asn, XP_011541132.1:p.Ser3062Thr, XP_011541133.1:p.Ser3060Asn, XP_011541133.1:p.Ser3060Thr, XP_011541135.1:p.Ser2224Asn, XP_011541135.1:p.Ser2224Thr, XP_047282919.1:p.Ser3059Asn, XP_047282919.1:p.Ser3059Thr, XP_047282920.1:p.Ser2188Asn, XP_047282920.1:p.Ser2188Thr

        4.

        rs1485749699 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          11:118484297 (GRCh38)
          11:118355012 (GRCh37)
          Canonical SPDI:
          NC_000011.10:118484296:A:C
          Gene:
          KMT2A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000011.10:g.118484297A>C, NC_000011.9:g.118355012A>C, NG_027813.1:g.52808A>C, NM_005933.4:c.4201A>C, NM_005933.3:c.4201A>C, NM_001197104.2:c.4201A>C, NM_001197104.1:c.4201A>C, NW_003871072.2:g.109735A>C, XM_006718839.4:c.1684A>C, XM_006718839.3:c.1684A>C, XM_006718839.2:c.1684A>C, XM_006718839.1:c.1177A>C, XM_011542829.3:c.4300A>C, XM_011542829.2:c.4300A>C, XM_011542829.1:c.4300A>C, XM_011542830.3:c.4300A>C, XM_011542830.2:c.4300A>C, XM_011542830.1:c.4300A>C, XM_011542831.3:c.4300A>C, XM_011542831.2:c.4300A>C, XM_011542831.1:c.4300A>C, XM_011542833.3:c.1783A>C, XM_011542833.2:c.1783A>C, XM_011542833.1:c.1783A>C, XM_047426963.1:c.4300A>C, XM_047426964.1:c.1684A>C, NP_005924.2:p.Ile1401Leu, NP_001184033.1:p.Ile1401Leu, XP_006718902.2:p.Ile562Leu, XP_011541131.1:p.Ile1434Leu, XP_011541132.1:p.Ile1434Leu, XP_011541133.1:p.Ile1434Leu, XP_011541135.1:p.Ile595Leu, XP_047282919.1:p.Ile1434Leu, XP_047282920.1:p.Ile562Leu

          5.

          rs1484928537 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:118494750 (GRCh38)
            11:118365465 (GRCh37)
            Canonical SPDI:
            NC_000011.10:118494749:A:G
            Gene:
            KMT2A (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs1484488899 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:118505990 (GRCh38)
              11:118376705 (GRCh37)
              Canonical SPDI:
              NC_000011.10:118505989:C:T
              Gene:
              KMT2A (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1482293598 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                11:118436617 (GRCh38)
                11:118307332 (GRCh37)
                Canonical SPDI:
                NC_000011.10:118436616:C:G,NC_000011.10:118436616:C:T
                Gene:
                KMT2A (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000022/3 (GnomAD)
                T=0.000023/6 (TOPMED)
                HGVS:
                NC_000011.10:g.118436617C>G, NC_000011.10:g.118436617C>T, NC_000011.9:g.118307332C>G, NC_000011.9:g.118307332C>T, NG_027813.1:g.5128C>G, NG_027813.1:g.5128C>T, NM_005933.4:c.105C>G, NM_005933.4:c.105C>T, NM_005933.3:c.105C>G, NM_005933.3:c.105C>T, NM_001197104.2:c.105C>G, NM_001197104.2:c.105C>T, NM_001197104.1:c.105C>G, NM_001197104.1:c.105C>T, NW_003871072.2:g.62055C>G, NW_003871072.2:g.62055C>T, XM_006718839.4:c.105C>G, XM_006718839.4:c.105C>T, XM_006718839.3:c.105C>G, XM_006718839.3:c.105C>T, XM_006718839.2:c.105C>G, XM_006718839.2:c.105C>T, XM_011542829.3:c.105C>G, XM_011542829.3:c.105C>T, XM_011542829.2:c.105C>G, XM_011542829.2:c.105C>T, XM_011542829.1:c.105C>G, XM_011542829.1:c.105C>T, XM_011542830.3:c.105C>G, XM_011542830.3:c.105C>T, XM_011542830.2:c.105C>G, XM_011542830.2:c.105C>T, XM_011542830.1:c.105C>G, XM_011542830.1:c.105C>T, XM_011542831.3:c.105C>G, XM_011542831.3:c.105C>T, XM_011542831.2:c.105C>G, XM_011542831.2:c.105C>T, XM_011542831.1:c.105C>G, XM_011542831.1:c.105C>T, XM_011542833.3:c.105C>G, XM_011542833.3:c.105C>T, XM_011542833.2:c.105C>G, XM_011542833.2:c.105C>T, XM_011542833.1:c.105C>G, XM_011542833.1:c.105C>T, XM_047426963.1:c.105C>G, XM_047426963.1:c.105C>T, XM_047426964.1:c.105C>G, XM_047426964.1:c.105C>T

                8.

                rs1482202552 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  11:118436834 (GRCh38)
                  11:118307549 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:118436833:G:C,NC_000011.10:118436833:G:T
                  Gene:
                  KMT2A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000011.10:g.118436834G>C, NC_000011.10:g.118436834G>T, NC_000011.9:g.118307549G>C, NC_000011.9:g.118307549G>T, NG_027813.1:g.5345G>C, NG_027813.1:g.5345G>T, NM_005933.4:c.322G>C, NM_005933.4:c.322G>T, NM_005933.3:c.322G>C, NM_005933.3:c.322G>T, NM_001197104.2:c.322G>C, NM_001197104.2:c.322G>T, NM_001197104.1:c.322G>C, NM_001197104.1:c.322G>T, NW_003871072.2:g.62272G>C, NW_003871072.2:g.62272G>T, XM_006718839.4:c.322G>C, XM_006718839.4:c.322G>T, XM_006718839.3:c.322G>C, XM_006718839.3:c.322G>T, XM_006718839.2:c.322G>C, XM_006718839.2:c.322G>T, XM_006718839.1:c.-186G>C, XM_006718839.1:c.-186G>T, XM_011542829.3:c.322G>C, XM_011542829.3:c.322G>T, XM_011542829.2:c.322G>C, XM_011542829.2:c.322G>T, XM_011542829.1:c.322G>C, XM_011542829.1:c.322G>T, XM_011542830.3:c.322G>C, XM_011542830.3:c.322G>T, XM_011542830.2:c.322G>C, XM_011542830.2:c.322G>T, XM_011542830.1:c.322G>C, XM_011542830.1:c.322G>T, XM_011542831.3:c.322G>C, XM_011542831.3:c.322G>T, XM_011542831.2:c.322G>C, XM_011542831.2:c.322G>T, XM_011542831.1:c.322G>C, XM_011542831.1:c.322G>T, XM_011542833.3:c.322G>C, XM_011542833.3:c.322G>T, XM_011542833.2:c.322G>C, XM_011542833.2:c.322G>T, XM_011542833.1:c.322G>C, XM_011542833.1:c.322G>T, XM_047426963.1:c.322G>C, XM_047426963.1:c.322G>T, XM_047426964.1:c.322G>C, XM_047426964.1:c.322G>T, NP_005924.2:p.Val108Leu, NP_005924.2:p.Val108Leu, NP_001184033.1:p.Val108Leu, NP_001184033.1:p.Val108Leu, XP_006718902.2:p.Val108Leu, XP_006718902.2:p.Val108Leu, XP_011541131.1:p.Val108Leu, XP_011541131.1:p.Val108Leu, XP_011541132.1:p.Val108Leu, XP_011541132.1:p.Val108Leu, XP_011541133.1:p.Val108Leu, XP_011541133.1:p.Val108Leu, XP_011541135.1:p.Val108Leu, XP_011541135.1:p.Val108Leu, XP_047282919.1:p.Val108Leu, XP_047282919.1:p.Val108Leu, XP_047282920.1:p.Val108Leu, XP_047282920.1:p.Val108Leu

                  9.

                  rs1480267323 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAG>- [Show Flanks]
                    Chromosome:
                    11:118468809 (GRCh38)
                    11:118339524 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:118468804:GAAGAAG:GAAG
                    Gene:
                    KMT2A (Varview)
                    Functional Consequence:
                    inframe_deletion,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GAAG=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000011.10:g.118468806AAG[1], NC_000011.9:g.118339521AAG[1], NG_027813.1:g.37317AAG[1], NM_005933.4:c.464AAG[1], NM_005933.3:c.464AAG[1], NM_001197104.2:c.464AAG[1], NM_001197104.1:c.464AAG[1], NW_003871072.2:g.94244AAG[1], XM_006718839.4:c.464AAG[1], XM_006718839.3:c.464AAG[1], XM_006718839.2:c.464AAG[1], XM_006718839.1:c.-44AAG[1], XM_011542829.3:c.563AAG[1], XM_011542829.2:c.563AAG[1], XM_011542829.1:c.563AAG[1], XM_011542830.3:c.563AAG[1], XM_011542830.2:c.563AAG[1], XM_011542830.1:c.563AAG[1], XM_011542831.3:c.563AAG[1], XM_011542831.2:c.563AAG[1], XM_011542831.1:c.563AAG[1], XM_011542833.3:c.563AAG[1], XM_011542833.2:c.563AAG[1], XM_011542833.1:c.563AAG[1], XM_047426963.1:c.563AAG[1], XM_047426964.1:c.464AAG[1], NP_005924.2:p.Glu156del, NP_001184033.1:p.Glu156del, XP_006718902.2:p.Glu156del, XP_011541131.1:p.Glu189del, XP_011541132.1:p.Glu189del, XP_011541133.1:p.Glu189del, XP_011541135.1:p.Glu189del, XP_047282919.1:p.Glu189del, XP_047282920.1:p.Glu156del

                    10.

                    rs1479477078 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      11:118510049 (GRCh38)
                      11:118380764 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:118510048:C:A
                      Gene:
                      KMT2A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000012/3 (GnomAD_exomes)
                      A=0.000026/7 (TOPMED)
                      HGVS:
                      NC_000011.10:g.118510049C>A, NC_000011.9:g.118380764C>A, NG_027813.1:g.78560C>A, NM_005933.4:c.10993C>A, NM_005933.3:c.10993C>A, NM_001197104.2:c.11002C>A, NM_001197104.1:c.11002C>A, NW_003871072.2:g.135487C>A, XM_006718839.4:c.8485C>A, XM_006718839.3:c.8485C>A, XM_006718839.2:c.8485C>A, XM_006718839.1:c.7978C>A, XM_011542829.3:c.11101C>A, XM_011542829.2:c.11101C>A, XM_011542829.1:c.11101C>A, XM_011542830.3:c.11098C>A, XM_011542830.2:c.11098C>A, XM_011542830.1:c.11098C>A, XM_011542831.3:c.11092C>A, XM_011542831.2:c.11092C>A, XM_011542831.1:c.11092C>A, XM_011542833.3:c.8584C>A, XM_011542833.2:c.8584C>A, XM_011542833.1:c.8584C>A, XM_047426963.1:c.11089C>A, XM_047426964.1:c.8476C>A, NP_005924.2:p.Pro3665Thr, NP_001184033.1:p.Pro3668Thr, XP_006718902.2:p.Pro2829Thr, XP_011541131.1:p.Pro3701Thr, XP_011541132.1:p.Pro3700Thr, XP_011541133.1:p.Pro3698Thr, XP_011541135.1:p.Pro2862Thr, XP_047282919.1:p.Pro3697Thr, XP_047282920.1:p.Pro2826Thr

                      11.

                      rs1477983581 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        11:118509158 (GRCh38)
                        11:118379873 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:118509157:G:A,NC_000011.10:118509157:G:C,NC_000011.10:118509157:G:T
                        Gene:
                        KMT2A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.118509158G>A, NC_000011.10:g.118509158G>C, NC_000011.10:g.118509158G>T, NC_000011.9:g.118379873G>A, NC_000011.9:g.118379873G>C, NC_000011.9:g.118379873G>T, NG_027813.1:g.77669G>A, NG_027813.1:g.77669G>C, NG_027813.1:g.77669G>T, NM_005933.4:c.10849G>A, NM_005933.4:c.10849G>C, NM_005933.4:c.10849G>T, NM_005933.3:c.10849G>A, NM_005933.3:c.10849G>C, NM_005933.3:c.10849G>T, NM_001197104.2:c.10858G>A, NM_001197104.2:c.10858G>C, NM_001197104.2:c.10858G>T, NM_001197104.1:c.10858G>A, NM_001197104.1:c.10858G>C, NM_001197104.1:c.10858G>T, NW_003871072.2:g.134596G>A, NW_003871072.2:g.134596G>C, NW_003871072.2:g.134596G>T, XM_006718839.4:c.8341G>A, XM_006718839.4:c.8341G>C, XM_006718839.4:c.8341G>T, XM_006718839.3:c.8341G>A, XM_006718839.3:c.8341G>C, XM_006718839.3:c.8341G>T, XM_006718839.2:c.8341G>A, XM_006718839.2:c.8341G>C, XM_006718839.2:c.8341G>T, XM_006718839.1:c.7834G>A, XM_006718839.1:c.7834G>C, XM_006718839.1:c.7834G>T, XM_011542829.3:c.10957G>A, XM_011542829.3:c.10957G>C, XM_011542829.3:c.10957G>T, XM_011542829.2:c.10957G>A, XM_011542829.2:c.10957G>C, XM_011542829.2:c.10957G>T, XM_011542829.1:c.10957G>A, XM_011542829.1:c.10957G>C, XM_011542829.1:c.10957G>T, XM_011542830.3:c.10954G>A, XM_011542830.3:c.10954G>C, XM_011542830.3:c.10954G>T, XM_011542830.2:c.10954G>A, XM_011542830.2:c.10954G>C, XM_011542830.2:c.10954G>T, XM_011542830.1:c.10954G>A, XM_011542830.1:c.10954G>C, XM_011542830.1:c.10954G>T, XM_011542831.3:c.10948G>A, XM_011542831.3:c.10948G>C, XM_011542831.3:c.10948G>T, XM_011542831.2:c.10948G>A, XM_011542831.2:c.10948G>C, XM_011542831.2:c.10948G>T, XM_011542831.1:c.10948G>A, XM_011542831.1:c.10948G>C, XM_011542831.1:c.10948G>T, XM_011542833.3:c.8440G>A, XM_011542833.3:c.8440G>C, XM_011542833.3:c.8440G>T, XM_011542833.2:c.8440G>A, XM_011542833.2:c.8440G>C, XM_011542833.2:c.8440G>T, XM_011542833.1:c.8440G>A, XM_011542833.1:c.8440G>C, XM_011542833.1:c.8440G>T, XM_047426963.1:c.10945G>A, XM_047426963.1:c.10945G>C, XM_047426963.1:c.10945G>T, XM_047426964.1:c.8332G>A, XM_047426964.1:c.8332G>C, XM_047426964.1:c.8332G>T, NP_005924.2:p.Val3617Ile, NP_005924.2:p.Val3617Leu, NP_005924.2:p.Val3617Phe, NP_001184033.1:p.Val3620Ile, NP_001184033.1:p.Val3620Leu, NP_001184033.1:p.Val3620Phe, XP_006718902.2:p.Val2781Ile, XP_006718902.2:p.Val2781Leu, XP_006718902.2:p.Val2781Phe, XP_011541131.1:p.Val3653Ile, XP_011541131.1:p.Val3653Leu, XP_011541131.1:p.Val3653Phe, XP_011541132.1:p.Val3652Ile, XP_011541132.1:p.Val3652Leu, XP_011541132.1:p.Val3652Phe, XP_011541133.1:p.Val3650Ile, XP_011541133.1:p.Val3650Leu, XP_011541133.1:p.Val3650Phe, XP_011541135.1:p.Val2814Ile, XP_011541135.1:p.Val2814Leu, XP_011541135.1:p.Val2814Phe, XP_047282919.1:p.Val3649Ile, XP_047282919.1:p.Val3649Leu, XP_047282919.1:p.Val3649Phe, XP_047282920.1:p.Val2778Ile, XP_047282920.1:p.Val2778Leu, XP_047282920.1:p.Val2778Phe

                        12.

                        rs1477514152 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:118436680 (GRCh38)
                          11:118307395 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:118436679:C:T
                          Gene:
                          KMT2A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000019/5 (TOPMED)
                          T=0.000156/1 (1000Genomes)
                          HGVS:

                          13.

                          rs1476788480 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            11:118495713 (GRCh38)
                            11:118366428 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:118495712:C:A,NC_000011.10:118495712:C:G
                            Gene:
                            KMT2A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000011.10:g.118495713C>A, NC_000011.10:g.118495713C>G, NC_000011.9:g.118366428C>A, NC_000011.9:g.118366428C>G, NG_027813.1:g.64224C>A, NG_027813.1:g.64224C>G, NM_005933.4:c.5368C>A, NM_005933.4:c.5368C>G, NM_005933.3:c.5368C>A, NM_005933.3:c.5368C>G, NM_001197104.2:c.5377C>A, NM_001197104.2:c.5377C>G, NM_001197104.1:c.5377C>A, NM_001197104.1:c.5377C>G, NW_003871072.2:g.121151C>A, NW_003871072.2:g.121151C>G, XM_006718839.4:c.2860C>A, XM_006718839.4:c.2860C>G, XM_006718839.3:c.2860C>A, XM_006718839.3:c.2860C>G, XM_006718839.2:c.2860C>A, XM_006718839.2:c.2860C>G, XM_006718839.1:c.2353C>A, XM_006718839.1:c.2353C>G, XM_011542829.3:c.5476C>A, XM_011542829.3:c.5476C>G, XM_011542829.2:c.5476C>A, XM_011542829.2:c.5476C>G, XM_011542829.1:c.5476C>A, XM_011542829.1:c.5476C>G, XM_011542830.3:c.5473C>A, XM_011542830.3:c.5473C>G, XM_011542830.2:c.5473C>A, XM_011542830.2:c.5473C>G, XM_011542830.1:c.5473C>A, XM_011542830.1:c.5473C>G, XM_011542831.3:c.5467C>A, XM_011542831.3:c.5467C>G, XM_011542831.2:c.5467C>A, XM_011542831.2:c.5467C>G, XM_011542831.1:c.5467C>A, XM_011542831.1:c.5467C>G, XM_011542833.3:c.2959C>A, XM_011542833.3:c.2959C>G, XM_011542833.2:c.2959C>A, XM_011542833.2:c.2959C>G, XM_011542833.1:c.2959C>A, XM_011542833.1:c.2959C>G, XM_047426963.1:c.5464C>A, XM_047426963.1:c.5464C>G, XM_047426964.1:c.2851C>A, XM_047426964.1:c.2851C>G, NP_005924.2:p.Pro1790Thr, NP_005924.2:p.Pro1790Ala, NP_001184033.1:p.Pro1793Thr, NP_001184033.1:p.Pro1793Ala, XP_006718902.2:p.Pro954Thr, XP_006718902.2:p.Pro954Ala, XP_011541131.1:p.Pro1826Thr, XP_011541131.1:p.Pro1826Ala, XP_011541132.1:p.Pro1825Thr, XP_011541132.1:p.Pro1825Ala, XP_011541133.1:p.Pro1823Thr, XP_011541133.1:p.Pro1823Ala, XP_011541135.1:p.Pro987Thr, XP_011541135.1:p.Pro987Ala, XP_047282919.1:p.Pro1822Thr, XP_047282919.1:p.Pro1822Ala, XP_047282920.1:p.Pro951Thr, XP_047282920.1:p.Pro951Ala

                            14.

                            rs1475344216 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:118494715 (GRCh38)
                              11:118365430 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:118494714:T:C
                              Gene:
                              KMT2A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000011.10:g.118494715T>C, NC_000011.9:g.118365430T>C, NG_027813.1:g.63226T>C, NM_005933.4:c.5302T>C, NM_005933.3:c.5302T>C, NM_001197104.2:c.5311T>C, NM_001197104.1:c.5311T>C, NW_003871072.2:g.120153T>C, XM_006718839.4:c.2794T>C, XM_006718839.3:c.2794T>C, XM_006718839.2:c.2794T>C, XM_006718839.1:c.2287T>C, XM_011542829.3:c.5410T>C, XM_011542829.2:c.5410T>C, XM_011542829.1:c.5410T>C, XM_011542830.3:c.5407T>C, XM_011542830.2:c.5407T>C, XM_011542830.1:c.5407T>C, XM_011542831.3:c.5401T>C, XM_011542831.2:c.5401T>C, XM_011542831.1:c.5401T>C, XM_011542833.3:c.2893T>C, XM_011542833.2:c.2893T>C, XM_011542833.1:c.2893T>C, XM_047426963.1:c.5398T>C, XM_047426964.1:c.2785T>C, NP_005924.2:p.Trp1768Arg, NP_001184033.1:p.Trp1771Arg, XP_006718902.2:p.Trp932Arg, XP_011541131.1:p.Trp1804Arg, XP_011541132.1:p.Trp1803Arg, XP_011541133.1:p.Trp1801Arg, XP_011541135.1:p.Trp965Arg, XP_047282919.1:p.Trp1800Arg, XP_047282920.1:p.Trp929Arg

                              15.

                              rs1473869242 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                11:118503649 (GRCh38)
                                11:118374364 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:118503648:C:A,NC_000011.10:118503648:C:G,NC_000011.10:118503648:C:T
                                Gene:
                                KMT2A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000011.10:g.118503649C>A, NC_000011.10:g.118503649C>G, NC_000011.10:g.118503649C>T, NC_000011.9:g.118374364C>A, NC_000011.9:g.118374364C>G, NC_000011.9:g.118374364C>T, NG_027813.1:g.72160C>A, NG_027813.1:g.72160C>G, NG_027813.1:g.72160C>T, NM_005933.4:c.7748C>A, NM_005933.4:c.7748C>G, NM_005933.4:c.7748C>T, NM_005933.3:c.7748C>A, NM_005933.3:c.7748C>G, NM_005933.3:c.7748C>T, NM_001197104.2:c.7757C>A, NM_001197104.2:c.7757C>G, NM_001197104.2:c.7757C>T, NM_001197104.1:c.7757C>A, NM_001197104.1:c.7757C>G, NM_001197104.1:c.7757C>T, NW_003871072.2:g.129087C>A, NW_003871072.2:g.129087C>G, NW_003871072.2:g.129087C>T, XM_006718839.4:c.5240C>A, XM_006718839.4:c.5240C>G, XM_006718839.4:c.5240C>T, XM_006718839.3:c.5240C>A, XM_006718839.3:c.5240C>G, XM_006718839.3:c.5240C>T, XM_006718839.2:c.5240C>A, XM_006718839.2:c.5240C>G, XM_006718839.2:c.5240C>T, XM_006718839.1:c.4733C>A, XM_006718839.1:c.4733C>G, XM_006718839.1:c.4733C>T, XM_011542829.3:c.7856C>A, XM_011542829.3:c.7856C>G, XM_011542829.3:c.7856C>T, XM_011542829.2:c.7856C>A, XM_011542829.2:c.7856C>G, XM_011542829.2:c.7856C>T, XM_011542829.1:c.7856C>A, XM_011542829.1:c.7856C>G, XM_011542829.1:c.7856C>T, XM_011542830.3:c.7853C>A, XM_011542830.3:c.7853C>G, XM_011542830.3:c.7853C>T, XM_011542830.2:c.7853C>A, XM_011542830.2:c.7853C>G, XM_011542830.2:c.7853C>T, XM_011542830.1:c.7853C>A, XM_011542830.1:c.7853C>G, XM_011542830.1:c.7853C>T, XM_011542831.3:c.7847C>A, XM_011542831.3:c.7847C>G, XM_011542831.3:c.7847C>T, XM_011542831.2:c.7847C>A, XM_011542831.2:c.7847C>G, XM_011542831.2:c.7847C>T, XM_011542831.1:c.7847C>A, XM_011542831.1:c.7847C>G, XM_011542831.1:c.7847C>T, XM_011542833.3:c.5339C>A, XM_011542833.3:c.5339C>G, XM_011542833.3:c.5339C>T, XM_011542833.2:c.5339C>A, XM_011542833.2:c.5339C>G, XM_011542833.2:c.5339C>T, XM_011542833.1:c.5339C>A, XM_011542833.1:c.5339C>G, XM_011542833.1:c.5339C>T, XM_047426963.1:c.7844C>A, XM_047426963.1:c.7844C>G, XM_047426963.1:c.7844C>T, XM_047426964.1:c.5231C>A, XM_047426964.1:c.5231C>G, XM_047426964.1:c.5231C>T, NP_005924.2:p.Ser2583Tyr, NP_005924.2:p.Ser2583Cys, NP_005924.2:p.Ser2583Phe, NP_001184033.1:p.Ser2586Tyr, NP_001184033.1:p.Ser2586Cys, NP_001184033.1:p.Ser2586Phe, XP_006718902.2:p.Ser1747Tyr, XP_006718902.2:p.Ser1747Cys, XP_006718902.2:p.Ser1747Phe, XP_011541131.1:p.Ser2619Tyr, XP_011541131.1:p.Ser2619Cys, XP_011541131.1:p.Ser2619Phe, XP_011541132.1:p.Ser2618Tyr, XP_011541132.1:p.Ser2618Cys, XP_011541132.1:p.Ser2618Phe, XP_011541133.1:p.Ser2616Tyr, XP_011541133.1:p.Ser2616Cys, XP_011541133.1:p.Ser2616Phe, XP_011541135.1:p.Ser1780Tyr, XP_011541135.1:p.Ser1780Cys, XP_011541135.1:p.Ser1780Phe, XP_047282919.1:p.Ser2615Tyr, XP_047282919.1:p.Ser2615Cys, XP_047282919.1:p.Ser2615Phe, XP_047282920.1:p.Ser1744Tyr, XP_047282920.1:p.Ser1744Cys, XP_047282920.1:p.Ser1744Phe

                                16.

                                rs1473735619 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  11:118504228 (GRCh38)
                                  11:118374943 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:118504227:A:G,NC_000011.10:118504227:A:T
                                  Gene:
                                  KMT2A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.118504228A>G, NC_000011.10:g.118504228A>T, NC_000011.9:g.118374943A>G, NC_000011.9:g.118374943A>T, NG_027813.1:g.72739A>G, NG_027813.1:g.72739A>T, NM_005933.4:c.8327A>G, NM_005933.4:c.8327A>T, NM_005933.3:c.8327A>G, NM_005933.3:c.8327A>T, NM_001197104.2:c.8336A>G, NM_001197104.2:c.8336A>T, NM_001197104.1:c.8336A>G, NM_001197104.1:c.8336A>T, NW_003871072.2:g.129666A>G, NW_003871072.2:g.129666A>T, XM_006718839.4:c.5819A>G, XM_006718839.4:c.5819A>T, XM_006718839.3:c.5819A>G, XM_006718839.3:c.5819A>T, XM_006718839.2:c.5819A>G, XM_006718839.2:c.5819A>T, XM_006718839.1:c.5312A>G, XM_006718839.1:c.5312A>T, XM_011542829.3:c.8435A>G, XM_011542829.3:c.8435A>T, XM_011542829.2:c.8435A>G, XM_011542829.2:c.8435A>T, XM_011542829.1:c.8435A>G, XM_011542829.1:c.8435A>T, XM_011542830.3:c.8432A>G, XM_011542830.3:c.8432A>T, XM_011542830.2:c.8432A>G, XM_011542830.2:c.8432A>T, XM_011542830.1:c.8432A>G, XM_011542830.1:c.8432A>T, XM_011542831.3:c.8426A>G, XM_011542831.3:c.8426A>T, XM_011542831.2:c.8426A>G, XM_011542831.2:c.8426A>T, XM_011542831.1:c.8426A>G, XM_011542831.1:c.8426A>T, XM_011542833.3:c.5918A>G, XM_011542833.3:c.5918A>T, XM_011542833.2:c.5918A>G, XM_011542833.2:c.5918A>T, XM_011542833.1:c.5918A>G, XM_011542833.1:c.5918A>T, XM_047426963.1:c.8423A>G, XM_047426963.1:c.8423A>T, XM_047426964.1:c.5810A>G, XM_047426964.1:c.5810A>T, NP_005924.2:p.Asn2776Ser, NP_005924.2:p.Asn2776Ile, NP_001184033.1:p.Asn2779Ser, NP_001184033.1:p.Asn2779Ile, XP_006718902.2:p.Asn1940Ser, XP_006718902.2:p.Asn1940Ile, XP_011541131.1:p.Asn2812Ser, XP_011541131.1:p.Asn2812Ile, XP_011541132.1:p.Asn2811Ser, XP_011541132.1:p.Asn2811Ile, XP_011541133.1:p.Asn2809Ser, XP_011541133.1:p.Asn2809Ile, XP_011541135.1:p.Asn1973Ser, XP_011541135.1:p.Asn1973Ile, XP_047282919.1:p.Asn2808Ser, XP_047282919.1:p.Asn2808Ile, XP_047282920.1:p.Asn1937Ser, XP_047282920.1:p.Asn1937Ile

                                  17.

                                  rs1473721263 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:118521952 (GRCh38)
                                    11:118392667 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:118521951:T:C
                                    Gene:
                                    KMT2A (Varview), TTC36-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.118521952T>C, NC_000011.9:g.118392667T>C, NG_027813.1:g.90463T>C, NM_005933.4:c.11690T>C, NM_005933.3:c.11690T>C, NM_001197104.2:c.11699T>C, NM_001197104.1:c.11699T>C, NW_003871072.2:g.147390T>C, XM_006718839.4:c.9182T>C, XM_006718839.3:c.9182T>C, XM_006718839.2:c.9182T>C, XM_006718839.1:c.8675T>C, XM_011542829.3:c.11798T>C, XM_011542829.2:c.11798T>C, XM_011542829.1:c.11798T>C, XM_011542830.3:c.11795T>C, XM_011542830.2:c.11795T>C, XM_011542830.1:c.11795T>C, XM_011542831.3:c.11789T>C, XM_011542831.2:c.11789T>C, XM_011542831.1:c.11789T>C, XM_011542833.3:c.9281T>C, XM_011542833.2:c.9281T>C, XM_011542833.1:c.9281T>C, XM_047426963.1:c.11786T>C, XM_047426964.1:c.9173T>C, NP_005924.2:p.Met3897Thr, NP_001184033.1:p.Met3900Thr, XP_006718902.2:p.Met3061Thr, XP_011541131.1:p.Met3933Thr, XP_011541132.1:p.Met3932Thr, XP_011541133.1:p.Met3930Thr, XP_011541135.1:p.Met3094Thr, XP_047282919.1:p.Met3929Thr, XP_047282920.1:p.Met3058Thr

                                    18.

                                    rs1473681668 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      11:118502621 (GRCh38)
                                      11:118373336 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:118502620:C:G
                                      Gene:
                                      KMT2A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1472952558 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        11:118491276 (GRCh38)
                                        11:118361991 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:118491275:C:A,NC_000011.10:118491275:C:G,NC_000011.10:118491275:C:T
                                        Gene:
                                        KMT2A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.118491276C>A, NC_000011.10:g.118491276C>G, NC_000011.10:g.118491276C>T, NC_000011.9:g.118361991C>A, NC_000011.9:g.118361991C>G, NC_000011.9:g.118361991C>T, NG_027813.1:g.59787C>A, NG_027813.1:g.59787C>G, NG_027813.1:g.59787C>T, NM_005933.4:c.4777C>A, NM_005933.4:c.4777C>G, NM_005933.4:c.4777C>T, NM_005933.3:c.4777C>A, NM_005933.3:c.4777C>G, NM_005933.3:c.4777C>T, NM_001197104.2:c.4777C>A, NM_001197104.2:c.4777C>G, NM_001197104.2:c.4777C>T, NM_001197104.1:c.4777C>A, NM_001197104.1:c.4777C>G, NM_001197104.1:c.4777C>T, NW_003871072.2:g.116714C>A, NW_003871072.2:g.116714C>G, NW_003871072.2:g.116714C>T, XM_006718839.4:c.2260C>A, XM_006718839.4:c.2260C>G, XM_006718839.4:c.2260C>T, XM_006718839.3:c.2260C>A, XM_006718839.3:c.2260C>G, XM_006718839.3:c.2260C>T, XM_006718839.2:c.2260C>A, XM_006718839.2:c.2260C>G, XM_006718839.2:c.2260C>T, XM_006718839.1:c.1753C>A, XM_006718839.1:c.1753C>G, XM_006718839.1:c.1753C>T, XM_011542829.3:c.4876C>A, XM_011542829.3:c.4876C>G, XM_011542829.3:c.4876C>T, XM_011542829.2:c.4876C>A, XM_011542829.2:c.4876C>G, XM_011542829.2:c.4876C>T, XM_011542829.1:c.4876C>A, XM_011542829.1:c.4876C>G, XM_011542829.1:c.4876C>T, XM_011542830.3:c.4873C>A, XM_011542830.3:c.4873C>G, XM_011542830.3:c.4873C>T, XM_011542830.2:c.4873C>A, XM_011542830.2:c.4873C>G, XM_011542830.2:c.4873C>T, XM_011542830.1:c.4873C>A, XM_011542830.1:c.4873C>G, XM_011542830.1:c.4873C>T, XM_011542831.3:c.4876C>A, XM_011542831.3:c.4876C>G, XM_011542831.3:c.4876C>T, XM_011542831.2:c.4876C>A, XM_011542831.2:c.4876C>G, XM_011542831.2:c.4876C>T, XM_011542831.1:c.4876C>A, XM_011542831.1:c.4876C>G, XM_011542831.1:c.4876C>T, XM_011542833.3:c.2359C>A, XM_011542833.3:c.2359C>G, XM_011542833.3:c.2359C>T, XM_011542833.2:c.2359C>A, XM_011542833.2:c.2359C>G, XM_011542833.2:c.2359C>T, XM_011542833.1:c.2359C>A, XM_011542833.1:c.2359C>G, XM_011542833.1:c.2359C>T, XM_047426963.1:c.4873C>A, XM_047426963.1:c.4873C>G, XM_047426963.1:c.4873C>T, XM_047426964.1:c.2260C>A, XM_047426964.1:c.2260C>G, XM_047426964.1:c.2260C>T, NP_005924.2:p.Arg1593Ser, NP_005924.2:p.Arg1593Gly, NP_005924.2:p.Arg1593Cys, NP_001184033.1:p.Arg1593Ser, NP_001184033.1:p.Arg1593Gly, NP_001184033.1:p.Arg1593Cys, XP_006718902.2:p.Arg754Ser, XP_006718902.2:p.Arg754Gly, XP_006718902.2:p.Arg754Cys, XP_011541131.1:p.Arg1626Ser, XP_011541131.1:p.Arg1626Gly, XP_011541131.1:p.Arg1626Cys, XP_011541132.1:p.Arg1625Ser, XP_011541132.1:p.Arg1625Gly, XP_011541132.1:p.Arg1625Cys, XP_011541133.1:p.Arg1626Ser, XP_011541133.1:p.Arg1626Gly, XP_011541133.1:p.Arg1626Cys, XP_011541135.1:p.Arg787Ser, XP_011541135.1:p.Arg787Gly, XP_011541135.1:p.Arg787Cys, XP_047282919.1:p.Arg1625Ser, XP_047282919.1:p.Arg1625Gly, XP_047282919.1:p.Arg1625Cys, XP_047282920.1:p.Arg754Ser, XP_047282920.1:p.Arg754Gly, XP_047282920.1:p.Arg754Cys

                                        20.

                                        rs1472238690 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          11:118502998 (GRCh38)
                                          11:118373713 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:118502997:C:A,NC_000011.10:118502997:C:G
                                          Gene:
                                          KMT2A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000061/1 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          G=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000011.10:g.118502998C>A, NC_000011.10:g.118502998C>G, NC_000011.9:g.118373713C>A, NC_000011.9:g.118373713C>G, NG_027813.1:g.71509C>A, NG_027813.1:g.71509C>G, NM_005933.4:c.7097C>A, NM_005933.4:c.7097C>G, NM_005933.3:c.7097C>A, NM_005933.3:c.7097C>G, NM_001197104.2:c.7106C>A, NM_001197104.2:c.7106C>G, NM_001197104.1:c.7106C>A, NM_001197104.1:c.7106C>G, NW_003871072.2:g.128436C>A, NW_003871072.2:g.128436C>G, XM_006718839.4:c.4589C>A, XM_006718839.4:c.4589C>G, XM_006718839.3:c.4589C>A, XM_006718839.3:c.4589C>G, XM_006718839.2:c.4589C>A, XM_006718839.2:c.4589C>G, XM_006718839.1:c.4082C>A, XM_006718839.1:c.4082C>G, XM_011542829.3:c.7205C>A, XM_011542829.3:c.7205C>G, XM_011542829.2:c.7205C>A, XM_011542829.2:c.7205C>G, XM_011542829.1:c.7205C>A, XM_011542829.1:c.7205C>G, XM_011542830.3:c.7202C>A, XM_011542830.3:c.7202C>G, XM_011542830.2:c.7202C>A, XM_011542830.2:c.7202C>G, XM_011542830.1:c.7202C>A, XM_011542830.1:c.7202C>G, XM_011542831.3:c.7196C>A, XM_011542831.3:c.7196C>G, XM_011542831.2:c.7196C>A, XM_011542831.2:c.7196C>G, XM_011542831.1:c.7196C>A, XM_011542831.1:c.7196C>G, XM_011542833.3:c.4688C>A, XM_011542833.3:c.4688C>G, XM_011542833.2:c.4688C>A, XM_011542833.2:c.4688C>G, XM_011542833.1:c.4688C>A, XM_011542833.1:c.4688C>G, XM_047426963.1:c.7193C>A, XM_047426963.1:c.7193C>G, XM_047426964.1:c.4580C>A, XM_047426964.1:c.4580C>G, NP_005924.2:p.Ser2366Tyr, NP_005924.2:p.Ser2366Cys, NP_001184033.1:p.Ser2369Tyr, NP_001184033.1:p.Ser2369Cys, XP_006718902.2:p.Ser1530Tyr, XP_006718902.2:p.Ser1530Cys, XP_011541131.1:p.Ser2402Tyr, XP_011541131.1:p.Ser2402Cys, XP_011541132.1:p.Ser2401Tyr, XP_011541132.1:p.Ser2401Cys, XP_011541133.1:p.Ser2399Tyr, XP_011541133.1:p.Ser2399Cys, XP_011541135.1:p.Ser1563Tyr, XP_011541135.1:p.Ser1563Cys, XP_047282919.1:p.Ser2398Tyr, XP_047282919.1:p.Ser2398Cys, XP_047282920.1:p.Ser1527Tyr, XP_047282920.1:p.Ser1527Cys

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