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Items: 1 to 20 of 524

1.

rs1489185056 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:91986908 (GRCh38)
    8:92999136 (GRCh37)
    Canonical SPDI:
    NC_000008.11:91986907:T:C
    Gene:
    RUNX1T1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
    HGVS:
    NC_000008.11:g.91986908T>C, NC_000008.10:g.92999136T>C, NG_023272.3:g.121319A>G, NM_004349.4:c.975A>G, NM_004349.3:c.975A>G, NM_175634.3:c.1056A>G, NM_175634.2:c.1056A>G, NM_001198679.3:c.1233A>G, NM_001198679.2:c.1233A>G, NM_001198679.1:c.1233A>G, NM_175635.3:c.945A>G, NM_175635.2:c.945A>G, NM_001198625.2:c.975A>G, NM_001198625.1:c.975A>G, NM_001198633.2:c.996A>G, NM_001198633.1:c.996A>G, NM_001198627.2:c.1056A>G, NM_001198627.1:c.1056A>G, NM_001198626.2:c.1056A>G, NM_001198626.1:c.1056A>G, NM_001198630.2:c.1056A>G, NM_001198630.1:c.1056A>G, NM_001198629.2:c.1056A>G, NM_001198629.1:c.1056A>G, NM_001198632.2:c.975A>G, NM_001198632.1:c.975A>G, NM_175636.2:c.945A>G, NM_001198631.2:c.1056A>G, NM_001198631.1:c.1056A>G, NM_001198628.2:c.1056A>G, NM_001198628.1:c.1056A>G, NM_001198634.2:c.1089A>G, NM_001198634.1:c.1089A>G, NM_001395209.1:c.1140A>G, XM_011517351.3:c.1056A>G, XM_011517351.2:c.1056A>G, XM_011517351.1:c.1056A>G, XM_017013940.2:c.390A>G, XM_017013940.1:c.390A>G, XM_017013941.2:c.327A>G, XM_017013941.1:c.327A>G, XM_024447318.2:c.945A>G, XM_024447318.1:c.945A>G, XM_017013936.2:c.945A>G, XM_017013936.1:c.945A>G, XM_017013939.2:c.390A>G, XM_017013939.1:c.390A>G, XM_017013938.2:c.1233A>G, XM_017013938.1:c.1233A>G, XM_047422373.1:c.1056A>G, XM_047422374.1:c.996A>G, XM_047422375.1:c.975A>G, XR_007060758.1:n.1399A>G

    2.

    rs1488922322 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      8:92011076 (GRCh38)
      8:93023304 (GRCh37)
      Canonical SPDI:
      NC_000008.11:92011075:T:C
      Gene:
      RUNX1T1 (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.92011076T>C, NC_000008.10:g.93023304T>C, NG_023272.3:g.97151A>G, NM_004349.4:c.403A>G, NM_004349.3:c.403A>G, NM_175634.3:c.484A>G, NM_175634.2:c.484A>G, NM_001198679.3:c.661A>G, NM_001198679.2:c.661A>G, NM_001198679.1:c.661A>G, NM_175635.3:c.373A>G, NM_175635.2:c.373A>G, NM_001198625.2:c.403A>G, NM_001198625.1:c.403A>G, NM_001198633.2:c.424A>G, NM_001198633.1:c.424A>G, NM_001198627.2:c.484A>G, NM_001198627.1:c.484A>G, NM_001198626.2:c.484A>G, NM_001198626.1:c.484A>G, NM_001198630.2:c.484A>G, NM_001198630.1:c.484A>G, NM_001198629.2:c.484A>G, NM_001198629.1:c.484A>G, NM_001198632.2:c.403A>G, NM_001198632.1:c.403A>G, NM_175636.2:c.373A>G, NM_001198631.2:c.484A>G, NM_001198631.1:c.484A>G, NM_001198628.2:c.484A>G, NM_001198628.1:c.484A>G, NM_001198634.2:c.517A>G, NM_001198634.1:c.517A>G, NM_001395209.1:c.568A>G, XM_011517351.3:c.484A>G, XM_011517351.2:c.484A>G, XM_011517351.1:c.484A>G, XM_024447318.2:c.373A>G, XM_024447318.1:c.373A>G, XM_017013936.2:c.373A>G, XM_017013936.1:c.373A>G, XM_017013938.2:c.661A>G, XM_017013938.1:c.661A>G, XM_047422373.1:c.484A>G, XM_047422374.1:c.424A>G, XM_047422375.1:c.403A>G, XR_007060758.1:n.827A>G, NP_004340.1:p.Ile135Val, NP_783552.1:p.Ile162Val, NP_001185608.1:p.Ile221Val, NP_783553.1:p.Ile125Val, NP_001185554.1:p.Ile135Val, NP_001185562.1:p.Ile142Val, NP_001185556.1:p.Ile162Val, NP_001185555.1:p.Ile162Val, NP_001185559.1:p.Ile162Val, NP_001185558.1:p.Ile162Val, NP_001185561.1:p.Ile135Val, NP_783554.1:p.Ile125Val, NP_001185560.1:p.Ile162Val, NP_001185557.1:p.Ile162Val, NP_001185563.1:p.Ile173Val, NP_001382138.1:p.Ile190Val, XP_011515653.1:p.Ile162Val, XP_024303086.1:p.Ile125Val, XP_016869425.1:p.Ile125Val, XP_016869427.1:p.Ile221Val, XP_047278329.1:p.Ile162Val, XP_047278330.1:p.Ile142Val, XP_047278331.1:p.Ile135Val

      3.

      rs1484910819 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        8:91991875 (GRCh38)
        8:93004103 (GRCh37)
        Canonical SPDI:
        NC_000008.11:91991874:C:T
        Gene:
        RUNX1T1 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        HGVS:
        NC_000008.11:g.91991875C>T, NC_000008.10:g.93004103C>T, NG_023272.3:g.116352G>A, NM_004349.4:c.674G>A, NM_004349.3:c.674G>A, NM_175634.3:c.755G>A, NM_175634.2:c.755G>A, NM_001198679.3:c.932G>A, NM_001198679.2:c.932G>A, NM_001198679.1:c.932G>A, NM_175635.3:c.644G>A, NM_175635.2:c.644G>A, NM_001198625.2:c.674G>A, NM_001198625.1:c.674G>A, NM_001198633.2:c.695G>A, NM_001198633.1:c.695G>A, NM_001198627.2:c.755G>A, NM_001198627.1:c.755G>A, NM_001198626.2:c.755G>A, NM_001198626.1:c.755G>A, NM_001198630.2:c.755G>A, NM_001198630.1:c.755G>A, NM_001198629.2:c.755G>A, NM_001198629.1:c.755G>A, NM_001198632.2:c.674G>A, NM_001198632.1:c.674G>A, NM_175636.2:c.644G>A, NM_001198631.2:c.755G>A, NM_001198631.1:c.755G>A, NM_001198628.2:c.755G>A, NM_001198628.1:c.755G>A, NM_001198634.2:c.788G>A, NM_001198634.1:c.788G>A, NM_001395209.1:c.839G>A, XM_011517351.3:c.755G>A, XM_011517351.2:c.755G>A, XM_011517351.1:c.755G>A, XM_017013940.2:c.89G>A, XM_017013940.1:c.89G>A, XM_017013941.2:c.26G>A, XM_017013941.1:c.26G>A, XM_024447318.2:c.644G>A, XM_024447318.1:c.644G>A, XM_017013936.2:c.644G>A, XM_017013936.1:c.644G>A, XM_017013939.2:c.89G>A, XM_017013939.1:c.89G>A, XM_017013938.2:c.932G>A, XM_017013938.1:c.932G>A, XM_047422373.1:c.755G>A, XM_047422374.1:c.695G>A, XM_047422375.1:c.674G>A, XR_007060758.1:n.1098G>A, NP_004340.1:p.Gly225Asp, NP_783552.1:p.Gly252Asp, NP_001185608.1:p.Gly311Asp, NP_783553.1:p.Gly215Asp, NP_001185554.1:p.Gly225Asp, NP_001185562.1:p.Gly232Asp, NP_001185556.1:p.Gly252Asp, NP_001185555.1:p.Gly252Asp, NP_001185559.1:p.Gly252Asp, NP_001185558.1:p.Gly252Asp, NP_001185561.1:p.Gly225Asp, NP_783554.1:p.Gly215Asp, NP_001185560.1:p.Gly252Asp, NP_001185557.1:p.Gly252Asp, NP_001185563.1:p.Gly263Asp, NP_001382138.1:p.Gly280Asp, XP_011515653.1:p.Gly252Asp, XP_016869429.1:p.Gly30Asp, XP_016869430.1:p.Gly9Asp, XP_024303086.1:p.Gly215Asp, XP_016869425.1:p.Gly215Asp, XP_016869428.1:p.Gly30Asp, XP_016869427.1:p.Gly311Asp, XP_047278329.1:p.Gly252Asp, XP_047278330.1:p.Gly232Asp, XP_047278331.1:p.Gly225Asp

        4.

        rs1481104827 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          8:92011005 (GRCh38)
          8:93023233 (GRCh37)
          Canonical SPDI:
          NC_000008.11:92011004:C:T
          Gene:
          RUNX1T1 (Varview)
          Functional Consequence:
          synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000008.11:g.92011005C>T, NC_000008.10:g.93023233C>T, NG_023272.3:g.97222G>A, NM_004349.4:c.474G>A, NM_004349.3:c.474G>A, NM_175634.3:c.555G>A, NM_175634.2:c.555G>A, NM_001198679.3:c.732G>A, NM_001198679.2:c.732G>A, NM_001198679.1:c.732G>A, NM_175635.3:c.444G>A, NM_175635.2:c.444G>A, NM_001198625.2:c.474G>A, NM_001198625.1:c.474G>A, NM_001198633.2:c.495G>A, NM_001198633.1:c.495G>A, NM_001198627.2:c.555G>A, NM_001198627.1:c.555G>A, NM_001198626.2:c.555G>A, NM_001198626.1:c.555G>A, NM_001198630.2:c.555G>A, NM_001198630.1:c.555G>A, NM_001198629.2:c.555G>A, NM_001198629.1:c.555G>A, NM_001198632.2:c.474G>A, NM_001198632.1:c.474G>A, NM_175636.2:c.444G>A, NM_001198631.2:c.555G>A, NM_001198631.1:c.555G>A, NM_001198628.2:c.555G>A, NM_001198628.1:c.555G>A, NM_001198634.2:c.588G>A, NM_001198634.1:c.588G>A, NM_001395209.1:c.639G>A, XM_011517351.3:c.555G>A, XM_011517351.2:c.555G>A, XM_011517351.1:c.555G>A, XM_024447318.2:c.444G>A, XM_024447318.1:c.444G>A, XM_017013936.2:c.444G>A, XM_017013936.1:c.444G>A, XM_017013938.2:c.732G>A, XM_017013938.1:c.732G>A, XM_047422373.1:c.555G>A, XM_047422374.1:c.495G>A, XM_047422375.1:c.474G>A, XR_007060758.1:n.898G>A

          5.

          rs1480183950 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            8:91991751 (GRCh38)
            8:93003979 (GRCh37)
            Canonical SPDI:
            NC_000008.11:91991750:G:A,NC_000008.11:91991750:G:T
            Gene:
            RUNX1T1 (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000051/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000008.11:g.91991751G>A, NC_000008.11:g.91991751G>T, NC_000008.10:g.93003979G>A, NC_000008.10:g.93003979G>T, NG_023272.3:g.116476C>T, NG_023272.3:g.116476C>A, NM_004349.4:c.798C>T, NM_004349.4:c.798C>A, NM_004349.3:c.798C>T, NM_004349.3:c.798C>A, NM_175634.3:c.879C>T, NM_175634.3:c.879C>A, NM_175634.2:c.879C>T, NM_175634.2:c.879C>A, NM_001198679.3:c.1056C>T, NM_001198679.3:c.1056C>A, NM_001198679.2:c.1056C>T, NM_001198679.2:c.1056C>A, NM_001198679.1:c.1056C>T, NM_001198679.1:c.1056C>A, NM_175635.3:c.768C>T, NM_175635.3:c.768C>A, NM_175635.2:c.768C>T, NM_175635.2:c.768C>A, NM_001198625.2:c.798C>T, NM_001198625.2:c.798C>A, NM_001198625.1:c.798C>T, NM_001198625.1:c.798C>A, NM_001198633.2:c.819C>T, NM_001198633.2:c.819C>A, NM_001198633.1:c.819C>T, NM_001198633.1:c.819C>A, NM_001198627.2:c.879C>T, NM_001198627.2:c.879C>A, NM_001198627.1:c.879C>T, NM_001198627.1:c.879C>A, NM_001198626.2:c.879C>T, NM_001198626.2:c.879C>A, NM_001198626.1:c.879C>T, NM_001198626.1:c.879C>A, NM_001198630.2:c.879C>T, NM_001198630.2:c.879C>A, NM_001198630.1:c.879C>T, NM_001198630.1:c.879C>A, NM_001198629.2:c.879C>T, NM_001198629.2:c.879C>A, NM_001198629.1:c.879C>T, NM_001198629.1:c.879C>A, NM_001198632.2:c.798C>T, NM_001198632.2:c.798C>A, NM_001198632.1:c.798C>T, NM_001198632.1:c.798C>A, NM_175636.2:c.768C>T, NM_175636.2:c.768C>A, NM_001198631.2:c.879C>T, NM_001198631.2:c.879C>A, NM_001198631.1:c.879C>T, NM_001198631.1:c.879C>A, NM_001198628.2:c.879C>T, NM_001198628.2:c.879C>A, NM_001198628.1:c.879C>T, NM_001198628.1:c.879C>A, NM_001198634.2:c.912C>T, NM_001198634.2:c.912C>A, NM_001198634.1:c.912C>T, NM_001198634.1:c.912C>A, NM_001395209.1:c.963C>T, NM_001395209.1:c.963C>A, XM_011517351.3:c.879C>T, XM_011517351.3:c.879C>A, XM_011517351.2:c.879C>T, XM_011517351.2:c.879C>A, XM_011517351.1:c.879C>T, XM_011517351.1:c.879C>A, XM_017013940.2:c.213C>T, XM_017013940.2:c.213C>A, XM_017013940.1:c.213C>T, XM_017013940.1:c.213C>A, XM_017013941.2:c.150C>T, XM_017013941.2:c.150C>A, XM_017013941.1:c.150C>T, XM_017013941.1:c.150C>A, XM_024447318.2:c.768C>T, XM_024447318.2:c.768C>A, XM_024447318.1:c.768C>T, XM_024447318.1:c.768C>A, XM_017013936.2:c.768C>T, XM_017013936.2:c.768C>A, XM_017013936.1:c.768C>T, XM_017013936.1:c.768C>A, XM_017013939.2:c.213C>T, XM_017013939.2:c.213C>A, XM_017013939.1:c.213C>T, XM_017013939.1:c.213C>A, XM_017013938.2:c.1056C>T, XM_017013938.2:c.1056C>A, XM_017013938.1:c.1056C>T, XM_017013938.1:c.1056C>A, XM_047422373.1:c.879C>T, XM_047422373.1:c.879C>A, XM_047422374.1:c.819C>T, XM_047422374.1:c.819C>A, XM_047422375.1:c.798C>T, XM_047422375.1:c.798C>A, XR_007060758.1:n.1222C>T, XR_007060758.1:n.1222C>A

            6.

            rs1476577227 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GAG>- [Show Flanks]
              Chromosome:
              8:92014797 (GRCh38)
              8:93027025 (GRCh37)
              Canonical SPDI:
              NC_000008.11:92014794:AGGAG:AG
              Gene:
              RUNX1T1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
              Validated:
              by frequency
              MAF:
              -=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.92014797_92014799del, NC_000008.10:g.93027025_93027027del, NG_023272.3:g.93430_93432del, NM_004349.4:c.169_171del, NM_004349.3:c.169_171del, NM_175634.3:c.250_252del, NM_175634.2:c.250_252del, NM_001198679.3:c.427_429del, NM_001198679.2:c.427_429del, NM_001198679.1:c.427_429del, NM_175635.3:c.139_141del, NM_175635.2:c.139_141del, NM_001198625.2:c.169_171del, NM_001198625.1:c.169_171del, NM_001198633.2:c.190_192del, NM_001198633.1:c.190_192del, NM_001198627.2:c.250_252del, NM_001198627.1:c.250_252del, NM_001198626.2:c.250_252del, NM_001198626.1:c.250_252del, NM_001198630.2:c.250_252del, NM_001198630.1:c.250_252del, NM_001198629.2:c.250_252del, NM_001198629.1:c.250_252del, NM_001198632.2:c.169_171del, NM_001198632.1:c.169_171del, NM_175636.2:c.139_141del, NM_001198631.2:c.250_252del, NM_001198631.1:c.250_252del, NM_001198628.2:c.250_252del, NM_001198628.1:c.250_252del, NM_001198634.2:c.283_285del, NM_001198634.1:c.283_285del, NM_001395209.1:c.334_336del, XM_011517351.3:c.250_252del, XM_011517351.2:c.250_252del, XM_011517351.1:c.250_252del, XM_024447318.2:c.139_141del, XM_024447318.1:c.139_141del, XM_017013936.2:c.139_141del, XM_017013936.1:c.139_141del, XM_017013938.2:c.427_429del, XM_017013938.1:c.427_429del, XM_047422373.1:c.250_252del, XM_047422374.1:c.190_192del, XM_047422375.1:c.169_171del, XR_007060758.1:n.593_595del, NP_004340.1:p.Pro57del, NP_783552.1:p.Pro84del, NP_001185608.1:p.Pro143del, NP_783553.1:p.Pro47del, NP_001185554.1:p.Pro57del, NP_001185562.1:p.Pro64del, NP_001185556.1:p.Pro84del, NP_001185555.1:p.Pro84del, NP_001185559.1:p.Pro84del, NP_001185558.1:p.Pro84del, NP_001185561.1:p.Pro57del, NP_783554.1:p.Pro47del, NP_001185560.1:p.Pro84del, NP_001185557.1:p.Pro84del, NP_001185563.1:p.Pro95del, NP_001382138.1:p.Pro112del, XP_011515653.1:p.Pro84del, XP_024303086.1:p.Pro47del, XP_016869425.1:p.Pro47del, XP_016869427.1:p.Pro143del, XP_047278329.1:p.Pro84del, XP_047278330.1:p.Pro64del, XP_047278331.1:p.Pro57del

              7.

              rs1476546064 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                8:92075970 (GRCh38)
                8:93088198 (GRCh37)
                Canonical SPDI:
                NC_000008.11:92075969:C:A
                Gene:
                RUNX1T1 (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000008.11:g.92075970C>A, NC_000008.10:g.93088198C>A, NG_023272.3:g.32257G>T, NM_175634.3:c.83G>T, NM_175634.2:c.83G>T, NM_001198625.2:c.-81G>T, NM_001198625.1:c.-81G>T, NM_001198627.2:c.83G>T, NM_001198627.1:c.83G>T, NM_001198626.2:c.83G>T, NM_001198626.1:c.83G>T, NM_001198630.2:c.83G>T, NM_001198630.1:c.83G>T, NM_001198629.2:c.83G>T, NM_001198629.1:c.83G>T, NM_001198631.2:c.83G>T, NM_001198631.1:c.83G>T, NM_001198628.2:c.83G>T, NM_001198628.1:c.83G>T, XM_011517351.3:c.83G>T, XM_011517351.2:c.83G>T, XM_011517351.1:c.83G>T, XM_017013936.2:c.-97G>T, XM_017013936.1:c.-97G>T, XM_047422373.1:c.83G>T, NP_783552.1:p.Cys28Phe, NP_001185556.1:p.Cys28Phe, NP_001185555.1:p.Cys28Phe, NP_001185559.1:p.Cys28Phe, NP_001185558.1:p.Cys28Phe, NP_001185560.1:p.Cys28Phe, NP_001185557.1:p.Cys28Phe, XP_011515653.1:p.Cys28Phe, XP_047278329.1:p.Cys28Phe

                8.

                rs1471788722 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:91960498 (GRCh38)
                  8:92972726 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:91960497:C:T
                  Gene:
                  RUNX1T1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.91960498C>T, NC_000008.10:g.92972726C>T, NG_023272.3:g.147729G>A, NM_004349.4:c.1478G>A, NM_004349.3:c.1478G>A, NM_175634.3:c.1559G>A, NM_175634.2:c.1559G>A, NM_001198679.3:c.1736G>A, NM_001198679.2:c.1736G>A, NM_001198679.1:c.1736G>A, NM_175635.3:c.1448G>A, NM_175635.2:c.1448G>A, NM_001198625.2:c.1478G>A, NM_001198625.1:c.1478G>A, NM_001198633.2:c.1499G>A, NM_001198633.1:c.1499G>A, NM_001198627.2:c.1559G>A, NM_001198627.1:c.1559G>A, NM_001198626.2:c.1559G>A, NM_001198626.1:c.1559G>A, NM_001198630.2:c.1559G>A, NM_001198630.1:c.1559G>A, NM_001198629.2:c.1559G>A, NM_001198629.1:c.1559G>A, NM_001198632.2:c.1478G>A, NM_001198632.1:c.1478G>A, NM_175636.2:c.1448G>A, NM_001198631.2:c.1559G>A, NM_001198631.1:c.1559G>A, NM_001198628.2:c.1559G>A, NM_001198628.1:c.1559G>A, NM_001198634.2:c.1592G>A, NM_001198634.1:c.1592G>A, NM_001395209.1:c.1643G>A, XM_011517351.3:c.1559G>A, XM_011517351.2:c.1559G>A, XM_011517351.1:c.1559G>A, XM_017013940.2:c.893G>A, XM_017013940.1:c.893G>A, XM_017013941.2:c.830G>A, XM_017013941.1:c.830G>A, XM_024447318.2:c.1448G>A, XM_024447318.1:c.1448G>A, XM_017013936.2:c.1448G>A, XM_017013936.1:c.1448G>A, XM_017013939.2:c.893G>A, XM_017013939.1:c.893G>A, XM_047422373.1:c.1559G>A, NP_004340.1:p.Arg493His, NP_783552.1:p.Arg520His, NP_001185608.1:p.Arg579His, NP_783553.1:p.Arg483His, NP_001185554.1:p.Arg493His, NP_001185562.1:p.Arg500His, NP_001185556.1:p.Arg520His, NP_001185555.1:p.Arg520His, NP_001185559.1:p.Arg520His, NP_001185558.1:p.Arg520His, NP_001185561.1:p.Arg493His, NP_783554.1:p.Arg483His, NP_001185560.1:p.Arg520His, NP_001185557.1:p.Arg520His, NP_001185563.1:p.Arg531His, NP_001382138.1:p.Arg548His, XP_011515653.1:p.Arg520His, XP_016869429.1:p.Arg298His, XP_016869430.1:p.Arg277His, XP_024303086.1:p.Arg483His, XP_016869425.1:p.Arg483His, XP_016869428.1:p.Arg298His, XP_047278329.1:p.Arg520His

                  9.

                  rs1470755915 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    8:92005229 (GRCh38)
                    8:93017457 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:92005228:C:A,NC_000008.11:92005228:C:G
                    Gene:
                    RUNX1T1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.00007/1 (ALFA)
                    A=0.00022/1 (Estonian)
                    HGVS:
                    NC_000008.11:g.92005229C>A, NC_000008.11:g.92005229C>G, NC_000008.10:g.93017457C>A, NC_000008.10:g.93017457C>G, NG_023272.3:g.102998G>T, NG_023272.3:g.102998G>C, NM_004349.4:c.546G>T, NM_004349.4:c.546G>C, NM_004349.3:c.546G>T, NM_004349.3:c.546G>C, NM_175634.3:c.627G>T, NM_175634.3:c.627G>C, NM_175634.2:c.627G>T, NM_175634.2:c.627G>C, NM_001198679.3:c.804G>T, NM_001198679.3:c.804G>C, NM_001198679.2:c.804G>T, NM_001198679.2:c.804G>C, NM_001198679.1:c.804G>T, NM_001198679.1:c.804G>C, NM_175635.3:c.516G>T, NM_175635.3:c.516G>C, NM_175635.2:c.516G>T, NM_175635.2:c.516G>C, NM_001198625.2:c.546G>T, NM_001198625.2:c.546G>C, NM_001198625.1:c.546G>T, NM_001198625.1:c.546G>C, NM_001198633.2:c.567G>T, NM_001198633.2:c.567G>C, NM_001198633.1:c.567G>T, NM_001198633.1:c.567G>C, NM_001198627.2:c.627G>T, NM_001198627.2:c.627G>C, NM_001198627.1:c.627G>T, NM_001198627.1:c.627G>C, NM_001198626.2:c.627G>T, NM_001198626.2:c.627G>C, NM_001198626.1:c.627G>T, NM_001198626.1:c.627G>C, NM_001198630.2:c.627G>T, NM_001198630.2:c.627G>C, NM_001198630.1:c.627G>T, NM_001198630.1:c.627G>C, NM_001198629.2:c.627G>T, NM_001198629.2:c.627G>C, NM_001198629.1:c.627G>T, NM_001198629.1:c.627G>C, NM_001198632.2:c.546G>T, NM_001198632.2:c.546G>C, NM_001198632.1:c.546G>T, NM_001198632.1:c.546G>C, NM_175636.2:c.516G>T, NM_175636.2:c.516G>C, NM_001198631.2:c.627G>T, NM_001198631.2:c.627G>C, NM_001198631.1:c.627G>T, NM_001198631.1:c.627G>C, NM_001198628.2:c.627G>T, NM_001198628.2:c.627G>C, NM_001198628.1:c.627G>T, NM_001198628.1:c.627G>C, NM_001198634.2:c.660G>T, NM_001198634.2:c.660G>C, NM_001198634.1:c.660G>T, NM_001198634.1:c.660G>C, NM_001395209.1:c.711G>T, NM_001395209.1:c.711G>C, XM_011517351.3:c.627G>T, XM_011517351.3:c.627G>C, XM_011517351.2:c.627G>T, XM_011517351.2:c.627G>C, XM_011517351.1:c.627G>T, XM_011517351.1:c.627G>C, XM_024447318.2:c.516G>T, XM_024447318.2:c.516G>C, XM_024447318.1:c.516G>T, XM_024447318.1:c.516G>C, XM_017013936.2:c.516G>T, XM_017013936.2:c.516G>C, XM_017013936.1:c.516G>T, XM_017013936.1:c.516G>C, XM_017013938.2:c.804G>T, XM_017013938.2:c.804G>C, XM_017013938.1:c.804G>T, XM_017013938.1:c.804G>C, XM_047422373.1:c.627G>T, XM_047422373.1:c.627G>C, XM_047422374.1:c.567G>T, XM_047422374.1:c.567G>C, XM_047422375.1:c.546G>T, XM_047422375.1:c.546G>C, XR_007060758.1:n.970G>T, XR_007060758.1:n.970G>C, NP_004340.1:p.Gln182His, NP_004340.1:p.Gln182His, NP_783552.1:p.Gln209His, NP_783552.1:p.Gln209His, NP_001185608.1:p.Gln268His, NP_001185608.1:p.Gln268His, NP_783553.1:p.Gln172His, NP_783553.1:p.Gln172His, NP_001185554.1:p.Gln182His, NP_001185554.1:p.Gln182His, NP_001185562.1:p.Gln189His, NP_001185562.1:p.Gln189His, NP_001185556.1:p.Gln209His, NP_001185556.1:p.Gln209His, NP_001185555.1:p.Gln209His, NP_001185555.1:p.Gln209His, NP_001185559.1:p.Gln209His, NP_001185559.1:p.Gln209His, NP_001185558.1:p.Gln209His, NP_001185558.1:p.Gln209His, NP_001185561.1:p.Gln182His, NP_001185561.1:p.Gln182His, NP_783554.1:p.Gln172His, NP_783554.1:p.Gln172His, NP_001185560.1:p.Gln209His, NP_001185560.1:p.Gln209His, NP_001185557.1:p.Gln209His, NP_001185557.1:p.Gln209His, NP_001185563.1:p.Gln220His, NP_001185563.1:p.Gln220His, NP_001382138.1:p.Gln237His, NP_001382138.1:p.Gln237His, XP_011515653.1:p.Gln209His, XP_011515653.1:p.Gln209His, XP_024303086.1:p.Gln172His, XP_024303086.1:p.Gln172His, XP_016869425.1:p.Gln172His, XP_016869425.1:p.Gln172His, XP_016869427.1:p.Gln268His, XP_016869427.1:p.Gln268His, XP_047278329.1:p.Gln209His, XP_047278329.1:p.Gln209His, XP_047278330.1:p.Gln189His, XP_047278330.1:p.Gln189His, XP_047278331.1:p.Gln182His, XP_047278331.1:p.Gln182His

                    10.

                    rs1469295205 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      8:91991684 (GRCh38)
                      8:93003912 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:91991683:G:A,NC_000008.11:91991683:G:C
                      Gene:
                      RUNX1T1 (Varview)
                      Functional Consequence:
                      stop_gained,coding_sequence_variant,non_coding_transcript_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_000008.11:g.91991684G>A, NC_000008.11:g.91991684G>C, NC_000008.10:g.93003912G>A, NC_000008.10:g.93003912G>C, NG_023272.3:g.116543C>T, NG_023272.3:g.116543C>G, NM_004349.4:c.865C>T, NM_004349.4:c.865C>G, NM_004349.3:c.865C>T, NM_004349.3:c.865C>G, NM_175634.3:c.946C>T, NM_175634.3:c.946C>G, NM_175634.2:c.946C>T, NM_175634.2:c.946C>G, NM_001198679.3:c.1123C>T, NM_001198679.3:c.1123C>G, NM_001198679.2:c.1123C>T, NM_001198679.2:c.1123C>G, NM_001198679.1:c.1123C>T, NM_001198679.1:c.1123C>G, NM_175635.3:c.835C>T, NM_175635.3:c.835C>G, NM_175635.2:c.835C>T, NM_175635.2:c.835C>G, NM_001198625.2:c.865C>T, NM_001198625.2:c.865C>G, NM_001198625.1:c.865C>T, NM_001198625.1:c.865C>G, NM_001198633.2:c.886C>T, NM_001198633.2:c.886C>G, NM_001198633.1:c.886C>T, NM_001198633.1:c.886C>G, NM_001198627.2:c.946C>T, NM_001198627.2:c.946C>G, NM_001198627.1:c.946C>T, NM_001198627.1:c.946C>G, NM_001198626.2:c.946C>T, NM_001198626.2:c.946C>G, NM_001198626.1:c.946C>T, NM_001198626.1:c.946C>G, NM_001198630.2:c.946C>T, NM_001198630.2:c.946C>G, NM_001198630.1:c.946C>T, NM_001198630.1:c.946C>G, NM_001198629.2:c.946C>T, NM_001198629.2:c.946C>G, NM_001198629.1:c.946C>T, NM_001198629.1:c.946C>G, NM_001198632.2:c.865C>T, NM_001198632.2:c.865C>G, NM_001198632.1:c.865C>T, NM_001198632.1:c.865C>G, NM_175636.2:c.835C>T, NM_175636.2:c.835C>G, NM_001198631.2:c.946C>T, NM_001198631.2:c.946C>G, NM_001198631.1:c.946C>T, NM_001198631.1:c.946C>G, NM_001198628.2:c.946C>T, NM_001198628.2:c.946C>G, NM_001198628.1:c.946C>T, NM_001198628.1:c.946C>G, NM_001198634.2:c.979C>T, NM_001198634.2:c.979C>G, NM_001198634.1:c.979C>T, NM_001198634.1:c.979C>G, NM_001395209.1:c.1030C>T, NM_001395209.1:c.1030C>G, XM_011517351.3:c.946C>T, XM_011517351.3:c.946C>G, XM_011517351.2:c.946C>T, XM_011517351.2:c.946C>G, XM_011517351.1:c.946C>T, XM_011517351.1:c.946C>G, XM_017013940.2:c.280C>T, XM_017013940.2:c.280C>G, XM_017013940.1:c.280C>T, XM_017013940.1:c.280C>G, XM_017013941.2:c.217C>T, XM_017013941.2:c.217C>G, XM_017013941.1:c.217C>T, XM_017013941.1:c.217C>G, XM_024447318.2:c.835C>T, XM_024447318.2:c.835C>G, XM_024447318.1:c.835C>T, XM_024447318.1:c.835C>G, XM_017013936.2:c.835C>T, XM_017013936.2:c.835C>G, XM_017013936.1:c.835C>T, XM_017013936.1:c.835C>G, XM_017013939.2:c.280C>T, XM_017013939.2:c.280C>G, XM_017013939.1:c.280C>T, XM_017013939.1:c.280C>G, XM_017013938.2:c.1123C>T, XM_017013938.2:c.1123C>G, XM_017013938.1:c.1123C>T, XM_017013938.1:c.1123C>G, XM_047422373.1:c.946C>T, XM_047422373.1:c.946C>G, XM_047422374.1:c.886C>T, XM_047422374.1:c.886C>G, XM_047422375.1:c.865C>T, XM_047422375.1:c.865C>G, XR_007060758.1:n.1289C>T, XR_007060758.1:n.1289C>G, NP_004340.1:p.Arg289Ter, NP_004340.1:p.Arg289Gly, NP_783552.1:p.Arg316Ter, NP_783552.1:p.Arg316Gly, NP_001185608.1:p.Arg375Ter, NP_001185608.1:p.Arg375Gly, NP_783553.1:p.Arg279Ter, NP_783553.1:p.Arg279Gly, NP_001185554.1:p.Arg289Ter, NP_001185554.1:p.Arg289Gly, NP_001185562.1:p.Arg296Ter, NP_001185562.1:p.Arg296Gly, NP_001185556.1:p.Arg316Ter, NP_001185556.1:p.Arg316Gly, NP_001185555.1:p.Arg316Ter, NP_001185555.1:p.Arg316Gly, NP_001185559.1:p.Arg316Ter, NP_001185559.1:p.Arg316Gly, NP_001185558.1:p.Arg316Ter, NP_001185558.1:p.Arg316Gly, NP_001185561.1:p.Arg289Ter, NP_001185561.1:p.Arg289Gly, NP_783554.1:p.Arg279Ter, NP_783554.1:p.Arg279Gly, NP_001185560.1:p.Arg316Ter, NP_001185560.1:p.Arg316Gly, NP_001185557.1:p.Arg316Ter, NP_001185557.1:p.Arg316Gly, NP_001185563.1:p.Arg327Ter, NP_001185563.1:p.Arg327Gly, NP_001382138.1:p.Arg344Ter, NP_001382138.1:p.Arg344Gly, XP_011515653.1:p.Arg316Ter, XP_011515653.1:p.Arg316Gly, XP_016869429.1:p.Arg94Ter, XP_016869429.1:p.Arg94Gly, XP_016869430.1:p.Arg73Ter, XP_016869430.1:p.Arg73Gly, XP_024303086.1:p.Arg279Ter, XP_024303086.1:p.Arg279Gly, XP_016869425.1:p.Arg279Ter, XP_016869425.1:p.Arg279Gly, XP_016869428.1:p.Arg94Ter, XP_016869428.1:p.Arg94Gly, XP_016869427.1:p.Arg375Ter, XP_016869427.1:p.Arg375Gly, XP_047278329.1:p.Arg316Ter, XP_047278329.1:p.Arg316Gly, XP_047278330.1:p.Arg296Ter, XP_047278330.1:p.Arg296Gly, XP_047278331.1:p.Arg289Ter, XP_047278331.1:p.Arg289Gly

                      11.

                      rs1467798475 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:91970745 (GRCh38)
                        8:92982973 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:91970744:G:A
                        Gene:
                        RUNX1T1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000008.11:g.91970745G>A, NC_000008.10:g.92982973G>A, NG_023272.3:g.137482C>T, NM_004349.4:c.1371C>T, NM_004349.3:c.1371C>T, NM_175634.3:c.1452C>T, NM_175634.2:c.1452C>T, NM_001198679.3:c.1629C>T, NM_001198679.2:c.1629C>T, NM_001198679.1:c.1629C>T, NM_175635.3:c.1341C>T, NM_175635.2:c.1341C>T, NM_001198625.2:c.1371C>T, NM_001198625.1:c.1371C>T, NM_001198633.2:c.1392C>T, NM_001198633.1:c.1392C>T, NM_001198627.2:c.1452C>T, NM_001198627.1:c.1452C>T, NM_001198626.2:c.1452C>T, NM_001198626.1:c.1452C>T, NM_001198630.2:c.1452C>T, NM_001198630.1:c.1452C>T, NM_001198629.2:c.1452C>T, NM_001198629.1:c.1452C>T, NM_001198632.2:c.1371C>T, NM_001198632.1:c.1371C>T, NM_175636.2:c.1341C>T, NM_001198631.2:c.1452C>T, NM_001198631.1:c.1452C>T, NM_001198628.2:c.1452C>T, NM_001198628.1:c.1452C>T, NM_001198634.2:c.1485C>T, NM_001198634.1:c.1485C>T, NM_001395209.1:c.1536C>T, XM_011517351.3:c.1452C>T, XM_011517351.2:c.1452C>T, XM_011517351.1:c.1452C>T, XM_017013940.2:c.786C>T, XM_017013940.1:c.786C>T, XM_017013941.2:c.723C>T, XM_017013941.1:c.723C>T, XM_024447318.2:c.1341C>T, XM_024447318.1:c.1341C>T, XM_017013936.2:c.1341C>T, XM_017013936.1:c.1341C>T, XM_017013939.2:c.786C>T, XM_017013939.1:c.786C>T, XM_047422373.1:c.1452C>T

                        12.

                        rs1467152422 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          8:91986295 (GRCh38)
                          8:92998523 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:91986294:T:G
                          Gene:
                          RUNX1T1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.91986295T>G, NC_000008.10:g.92998523T>G, NG_023272.3:g.121932A>C, NM_004349.4:c.1027A>C, NM_004349.3:c.1027A>C, NM_175634.3:c.1108A>C, NM_175634.2:c.1108A>C, NM_001198679.3:c.1285A>C, NM_001198679.2:c.1285A>C, NM_001198679.1:c.1285A>C, NM_175635.3:c.997A>C, NM_175635.2:c.997A>C, NM_001198625.2:c.1027A>C, NM_001198625.1:c.1027A>C, NM_001198633.2:c.1048A>C, NM_001198633.1:c.1048A>C, NM_001198627.2:c.1108A>C, NM_001198627.1:c.1108A>C, NM_001198626.2:c.1108A>C, NM_001198626.1:c.1108A>C, NM_001198630.2:c.1108A>C, NM_001198630.1:c.1108A>C, NM_001198629.2:c.1108A>C, NM_001198629.1:c.1108A>C, NM_001198632.2:c.1027A>C, NM_001198632.1:c.1027A>C, NM_175636.2:c.997A>C, NM_001198631.2:c.1108A>C, NM_001198631.1:c.1108A>C, NM_001198628.2:c.1108A>C, NM_001198628.1:c.1108A>C, NM_001198634.2:c.1141A>C, NM_001198634.1:c.1141A>C, NM_001395209.1:c.1192A>C, XM_011517351.3:c.1108A>C, XM_011517351.2:c.1108A>C, XM_011517351.1:c.1108A>C, XM_017013940.2:c.442A>C, XM_017013940.1:c.442A>C, XM_017013941.2:c.379A>C, XM_017013941.1:c.379A>C, XM_024447318.2:c.997A>C, XM_024447318.1:c.997A>C, XM_017013936.2:c.997A>C, XM_017013936.1:c.997A>C, XM_017013939.2:c.442A>C, XM_017013939.1:c.442A>C, XM_017013938.2:c.1285A>C, XM_017013938.1:c.1285A>C, XM_047422373.1:c.1108A>C, XM_047422374.1:c.1048A>C, XM_047422375.1:c.1027A>C, XR_007060758.1:n.1451A>C, NP_004340.1:p.Lys343Gln, NP_783552.1:p.Lys370Gln, NP_001185608.1:p.Lys429Gln, NP_783553.1:p.Lys333Gln, NP_001185554.1:p.Lys343Gln, NP_001185562.1:p.Lys350Gln, NP_001185556.1:p.Lys370Gln, NP_001185555.1:p.Lys370Gln, NP_001185559.1:p.Lys370Gln, NP_001185558.1:p.Lys370Gln, NP_001185561.1:p.Lys343Gln, NP_783554.1:p.Lys333Gln, NP_001185560.1:p.Lys370Gln, NP_001185557.1:p.Lys370Gln, NP_001185563.1:p.Lys381Gln, NP_001382138.1:p.Lys398Gln, XP_011515653.1:p.Lys370Gln, XP_016869429.1:p.Lys148Gln, XP_016869430.1:p.Lys127Gln, XP_024303086.1:p.Lys333Gln, XP_016869425.1:p.Lys333Gln, XP_016869428.1:p.Lys148Gln, XP_016869427.1:p.Lys429Gln, XP_047278329.1:p.Lys370Gln, XP_047278330.1:p.Lys350Gln, XP_047278331.1:p.Lys343Gln

                          13.

                          rs1465806732 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            8:91960305 (GRCh38)
                            8:92972533 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:91960304:T:G
                            Gene:
                            RUNX1T1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            HGVS:
                            NC_000008.11:g.91960305T>G, NC_000008.10:g.92972533T>G, NG_023272.3:g.147922A>C, NM_004349.4:c.1671A>C, NM_004349.3:c.1671A>C, NM_175634.3:c.1752A>C, NM_175634.2:c.1752A>C, NM_001198679.3:c.1929A>C, NM_001198679.2:c.1929A>C, NM_001198679.1:c.1929A>C, NM_175635.3:c.1641A>C, NM_175635.2:c.1641A>C, NM_001198625.2:c.1671A>C, NM_001198625.1:c.1671A>C, NM_001198633.2:c.1692A>C, NM_001198633.1:c.1692A>C, NM_001198627.2:c.1752A>C, NM_001198627.1:c.1752A>C, NM_001198626.2:c.1752A>C, NM_001198626.1:c.1752A>C, NM_001198630.2:c.1752A>C, NM_001198630.1:c.1752A>C, NM_001198629.2:c.1752A>C, NM_001198629.1:c.1752A>C, NM_001198632.2:c.1671A>C, NM_001198632.1:c.1671A>C, NM_175636.2:c.1641A>C, NM_001198631.2:c.1752A>C, NM_001198631.1:c.1752A>C, NM_001198628.2:c.1752A>C, NM_001198628.1:c.1752A>C, NM_001198634.2:c.1785A>C, NM_001198634.1:c.1785A>C, NM_001395209.1:c.1836A>C, XM_011517351.3:c.1752A>C, XM_011517351.2:c.1752A>C, XM_011517351.1:c.1752A>C, XM_017013940.2:c.1086A>C, XM_017013940.1:c.1086A>C, XM_017013941.2:c.1023A>C, XM_017013941.1:c.1023A>C, XM_024447318.2:c.1641A>C, XM_024447318.1:c.1641A>C, XM_017013936.2:c.1641A>C, XM_017013936.1:c.1641A>C, XM_017013939.2:c.1086A>C, XM_017013939.1:c.1086A>C, XM_047422373.1:c.1752A>C

                            14.

                            rs1462140811 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              8:91970785 (GRCh38)
                              8:92983013 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:91970784:G:A
                              Gene:
                              RUNX1T1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000008.11:g.91970785G>A, NC_000008.10:g.92983013G>A, NG_023272.3:g.137442C>T, NM_004349.4:c.1331C>T, NM_004349.3:c.1331C>T, NM_175634.3:c.1412C>T, NM_175634.2:c.1412C>T, NM_001198679.3:c.1589C>T, NM_001198679.2:c.1589C>T, NM_001198679.1:c.1589C>T, NM_175635.3:c.1301C>T, NM_175635.2:c.1301C>T, NM_001198625.2:c.1331C>T, NM_001198625.1:c.1331C>T, NM_001198633.2:c.1352C>T, NM_001198633.1:c.1352C>T, NM_001198627.2:c.1412C>T, NM_001198627.1:c.1412C>T, NM_001198626.2:c.1412C>T, NM_001198626.1:c.1412C>T, NM_001198630.2:c.1412C>T, NM_001198630.1:c.1412C>T, NM_001198629.2:c.1412C>T, NM_001198629.1:c.1412C>T, NM_001198632.2:c.1331C>T, NM_001198632.1:c.1331C>T, NM_175636.2:c.1301C>T, NM_001198631.2:c.1412C>T, NM_001198631.1:c.1412C>T, NM_001198628.2:c.1412C>T, NM_001198628.1:c.1412C>T, NM_001198634.2:c.1445C>T, NM_001198634.1:c.1445C>T, NM_001395209.1:c.1496C>T, XM_011517351.3:c.1412C>T, XM_011517351.2:c.1412C>T, XM_011517351.1:c.1412C>T, XM_017013940.2:c.746C>T, XM_017013940.1:c.746C>T, XM_017013941.2:c.683C>T, XM_017013941.1:c.683C>T, XM_024447318.2:c.1301C>T, XM_024447318.1:c.1301C>T, XM_017013936.2:c.1301C>T, XM_017013936.1:c.1301C>T, XM_017013939.2:c.746C>T, XM_017013939.1:c.746C>T, XM_047422373.1:c.1412C>T, NP_004340.1:p.Ala444Val, NP_783552.1:p.Ala471Val, NP_001185608.1:p.Ala530Val, NP_783553.1:p.Ala434Val, NP_001185554.1:p.Ala444Val, NP_001185562.1:p.Ala451Val, NP_001185556.1:p.Ala471Val, NP_001185555.1:p.Ala471Val, NP_001185559.1:p.Ala471Val, NP_001185558.1:p.Ala471Val, NP_001185561.1:p.Ala444Val, NP_783554.1:p.Ala434Val, NP_001185560.1:p.Ala471Val, NP_001185557.1:p.Ala471Val, NP_001185563.1:p.Ala482Val, NP_001382138.1:p.Ala499Val, XP_011515653.1:p.Ala471Val, XP_016869429.1:p.Ala249Val, XP_016869430.1:p.Ala228Val, XP_024303086.1:p.Ala434Val, XP_016869425.1:p.Ala434Val, XP_016869428.1:p.Ala249Val, XP_047278329.1:p.Ala471Val

                              15.

                              rs1461828635 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:91970714 (GRCh38)
                                8:92982942 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:91970713:G:A
                                Gene:
                                RUNX1T1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                A=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000008.11:g.91970714G>A, NC_000008.10:g.92982942G>A, NG_023272.3:g.137513C>T, NM_004349.4:c.1402C>T, NM_004349.3:c.1402C>T, NM_175634.3:c.1483C>T, NM_175634.2:c.1483C>T, NM_001198679.3:c.1660C>T, NM_001198679.2:c.1660C>T, NM_001198679.1:c.1660C>T, NM_175635.3:c.1372C>T, NM_175635.2:c.1372C>T, NM_001198625.2:c.1402C>T, NM_001198625.1:c.1402C>T, NM_001198633.2:c.1423C>T, NM_001198633.1:c.1423C>T, NM_001198627.2:c.1483C>T, NM_001198627.1:c.1483C>T, NM_001198626.2:c.1483C>T, NM_001198626.1:c.1483C>T, NM_001198630.2:c.1483C>T, NM_001198630.1:c.1483C>T, NM_001198629.2:c.1483C>T, NM_001198629.1:c.1483C>T, NM_001198632.2:c.1402C>T, NM_001198632.1:c.1402C>T, NM_175636.2:c.1372C>T, NM_001198631.2:c.1483C>T, NM_001198631.1:c.1483C>T, NM_001198628.2:c.1483C>T, NM_001198628.1:c.1483C>T, NM_001198634.2:c.1516C>T, NM_001198634.1:c.1516C>T, NM_001395209.1:c.1567C>T, XM_011517351.3:c.1483C>T, XM_011517351.2:c.1483C>T, XM_011517351.1:c.1483C>T, XM_017013940.2:c.817C>T, XM_017013940.1:c.817C>T, XM_017013941.2:c.754C>T, XM_017013941.1:c.754C>T, XM_024447318.2:c.1372C>T, XM_024447318.1:c.1372C>T, XM_017013936.2:c.1372C>T, XM_017013936.1:c.1372C>T, XM_017013939.2:c.817C>T, XM_017013939.1:c.817C>T, XM_047422373.1:c.1483C>T, NP_004340.1:p.Arg468Trp, NP_783552.1:p.Arg495Trp, NP_001185608.1:p.Arg554Trp, NP_783553.1:p.Arg458Trp, NP_001185554.1:p.Arg468Trp, NP_001185562.1:p.Arg475Trp, NP_001185556.1:p.Arg495Trp, NP_001185555.1:p.Arg495Trp, NP_001185559.1:p.Arg495Trp, NP_001185558.1:p.Arg495Trp, NP_001185561.1:p.Arg468Trp, NP_783554.1:p.Arg458Trp, NP_001185560.1:p.Arg495Trp, NP_001185557.1:p.Arg495Trp, NP_001185563.1:p.Arg506Trp, NP_001382138.1:p.Arg523Trp, XP_011515653.1:p.Arg495Trp, XP_016869429.1:p.Arg273Trp, XP_016869430.1:p.Arg252Trp, XP_024303086.1:p.Arg458Trp, XP_016869425.1:p.Arg458Trp, XP_016869428.1:p.Arg273Trp, XP_047278329.1:p.Arg495Trp

                                16.

                                rs1461787702 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  8:91986272 (GRCh38)
                                  8:92998500 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:91986271:T:C
                                  Gene:
                                  RUNX1T1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.91986272T>C, NC_000008.10:g.92998500T>C, NG_023272.3:g.121955A>G, NM_004349.4:c.1050A>G, NM_004349.3:c.1050A>G, NM_175634.3:c.1131A>G, NM_175634.2:c.1131A>G, NM_001198679.3:c.1308A>G, NM_001198679.2:c.1308A>G, NM_001198679.1:c.1308A>G, NM_175635.3:c.1020A>G, NM_175635.2:c.1020A>G, NM_001198625.2:c.1050A>G, NM_001198625.1:c.1050A>G, NM_001198633.2:c.1071A>G, NM_001198633.1:c.1071A>G, NM_001198627.2:c.1131A>G, NM_001198627.1:c.1131A>G, NM_001198626.2:c.1131A>G, NM_001198626.1:c.1131A>G, NM_001198630.2:c.1131A>G, NM_001198630.1:c.1131A>G, NM_001198629.2:c.1131A>G, NM_001198629.1:c.1131A>G, NM_001198632.2:c.1050A>G, NM_001198632.1:c.1050A>G, NM_175636.2:c.1020A>G, NM_001198631.2:c.1131A>G, NM_001198631.1:c.1131A>G, NM_001198628.2:c.1131A>G, NM_001198628.1:c.1131A>G, NM_001198634.2:c.1164A>G, NM_001198634.1:c.1164A>G, NM_001395209.1:c.1215A>G, XM_011517351.3:c.1131A>G, XM_011517351.2:c.1131A>G, XM_011517351.1:c.1131A>G, XM_017013940.2:c.465A>G, XM_017013940.1:c.465A>G, XM_017013941.2:c.402A>G, XM_017013941.1:c.402A>G, XM_024447318.2:c.1020A>G, XM_024447318.1:c.1020A>G, XM_017013936.2:c.1020A>G, XM_017013936.1:c.1020A>G, XM_017013939.2:c.465A>G, XM_017013939.1:c.465A>G, XM_017013938.2:c.1308A>G, XM_017013938.1:c.1308A>G, XM_047422373.1:c.1131A>G, XM_047422374.1:c.1071A>G, XM_047422375.1:c.1050A>G, XR_007060758.1:n.1474A>G

                                  17.

                                  rs1460718211 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    8:92011071 (GRCh38)
                                    8:93023299 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:92011070:T:C
                                    Gene:
                                    RUNX1T1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.92011071T>C, NC_000008.10:g.93023299T>C, NG_023272.3:g.97156A>G, NM_004349.4:c.408A>G, NM_004349.3:c.408A>G, NM_175634.3:c.489A>G, NM_175634.2:c.489A>G, NM_001198679.3:c.666A>G, NM_001198679.2:c.666A>G, NM_001198679.1:c.666A>G, NM_175635.3:c.378A>G, NM_175635.2:c.378A>G, NM_001198625.2:c.408A>G, NM_001198625.1:c.408A>G, NM_001198633.2:c.429A>G, NM_001198633.1:c.429A>G, NM_001198627.2:c.489A>G, NM_001198627.1:c.489A>G, NM_001198626.2:c.489A>G, NM_001198626.1:c.489A>G, NM_001198630.2:c.489A>G, NM_001198630.1:c.489A>G, NM_001198629.2:c.489A>G, NM_001198629.1:c.489A>G, NM_001198632.2:c.408A>G, NM_001198632.1:c.408A>G, NM_175636.2:c.378A>G, NM_001198631.2:c.489A>G, NM_001198631.1:c.489A>G, NM_001198628.2:c.489A>G, NM_001198628.1:c.489A>G, NM_001198634.2:c.522A>G, NM_001198634.1:c.522A>G, NM_001395209.1:c.573A>G, XM_011517351.3:c.489A>G, XM_011517351.2:c.489A>G, XM_011517351.1:c.489A>G, XM_024447318.2:c.378A>G, XM_024447318.1:c.378A>G, XM_017013936.2:c.378A>G, XM_017013936.1:c.378A>G, XM_017013938.2:c.666A>G, XM_017013938.1:c.666A>G, XM_047422373.1:c.489A>G, XM_047422374.1:c.429A>G, XM_047422375.1:c.408A>G, XR_007060758.1:n.832A>G

                                    18.

                                    rs1459747965 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:91975947 (GRCh38)
                                      8:92988175 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:91975946:G:A
                                      Gene:
                                      RUNX1T1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      HGVS:
                                      NC_000008.11:g.91975947G>A, NC_000008.10:g.92988175G>A, NG_023272.3:g.132280C>T, NM_004349.4:c.1225C>T, NM_004349.3:c.1225C>T, NM_175634.3:c.1306C>T, NM_175634.2:c.1306C>T, NM_001198679.3:c.1483C>T, NM_001198679.2:c.1483C>T, NM_001198679.1:c.1483C>T, NM_175635.3:c.1195C>T, NM_175635.2:c.1195C>T, NM_001198625.2:c.1225C>T, NM_001198625.1:c.1225C>T, NM_001198633.2:c.1246C>T, NM_001198633.1:c.1246C>T, NM_001198627.2:c.1306C>T, NM_001198627.1:c.1306C>T, NM_001198626.2:c.1306C>T, NM_001198626.1:c.1306C>T, NM_001198630.2:c.1306C>T, NM_001198630.1:c.1306C>T, NM_001198629.2:c.1306C>T, NM_001198629.1:c.1306C>T, NM_001198632.2:c.1225C>T, NM_001198632.1:c.1225C>T, NM_175636.2:c.1195C>T, NM_001198631.2:c.1306C>T, NM_001198631.1:c.1306C>T, NM_001198628.2:c.1306C>T, NM_001198628.1:c.1306C>T, NM_001198634.2:c.1339C>T, NM_001198634.1:c.1339C>T, NM_001395209.1:c.1390C>T, XM_011517351.3:c.1306C>T, XM_011517351.2:c.1306C>T, XM_011517351.1:c.1306C>T, XM_017013940.2:c.640C>T, XM_017013940.1:c.640C>T, XM_017013941.2:c.577C>T, XM_017013941.1:c.577C>T, XM_024447318.2:c.1195C>T, XM_024447318.1:c.1195C>T, XM_017013936.2:c.1195C>T, XM_017013936.1:c.1195C>T, XM_017013939.2:c.640C>T, XM_017013939.1:c.640C>T, XM_017013938.2:c.*3980C>T, XM_017013938.1:c.*3980C>T, XM_047422373.1:c.1306C>T, XM_047422374.1:c.*3980C>T, XM_047422375.1:c.*3980C>T, XR_007060758.1:n.1804C>T, NP_004340.1:p.Pro409Ser, NP_783552.1:p.Pro436Ser, NP_001185608.1:p.Pro495Ser, NP_783553.1:p.Pro399Ser, NP_001185554.1:p.Pro409Ser, NP_001185562.1:p.Pro416Ser, NP_001185556.1:p.Pro436Ser, NP_001185555.1:p.Pro436Ser, NP_001185559.1:p.Pro436Ser, NP_001185558.1:p.Pro436Ser, NP_001185561.1:p.Pro409Ser, NP_783554.1:p.Pro399Ser, NP_001185560.1:p.Pro436Ser, NP_001185557.1:p.Pro436Ser, NP_001185563.1:p.Pro447Ser, NP_001382138.1:p.Pro464Ser, XP_011515653.1:p.Pro436Ser, XP_016869429.1:p.Pro214Ser, XP_016869430.1:p.Pro193Ser, XP_024303086.1:p.Pro399Ser, XP_016869425.1:p.Pro399Ser, XP_016869428.1:p.Pro214Ser, XP_047278329.1:p.Pro436Ser

                                      19.

                                      rs1459547242 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:91991657 (GRCh38)
                                        8:93003885 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:91991656:C:T
                                        Gene:
                                        RUNX1T1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        HGVS:
                                        NC_000008.11:g.91991657C>T, NC_000008.10:g.93003885C>T, NG_023272.3:g.116570G>A, NM_004349.4:c.892G>A, NM_004349.3:c.892G>A, NM_175634.3:c.973G>A, NM_175634.2:c.973G>A, NM_001198679.3:c.1150G>A, NM_001198679.2:c.1150G>A, NM_001198679.1:c.1150G>A, NM_175635.3:c.862G>A, NM_175635.2:c.862G>A, NM_001198625.2:c.892G>A, NM_001198625.1:c.892G>A, NM_001198633.2:c.913G>A, NM_001198633.1:c.913G>A, NM_001198627.2:c.973G>A, NM_001198627.1:c.973G>A, NM_001198626.2:c.973G>A, NM_001198626.1:c.973G>A, NM_001198630.2:c.973G>A, NM_001198630.1:c.973G>A, NM_001198629.2:c.973G>A, NM_001198629.1:c.973G>A, NM_001198632.2:c.892G>A, NM_001198632.1:c.892G>A, NM_175636.2:c.862G>A, NM_001198631.2:c.973G>A, NM_001198631.1:c.973G>A, NM_001198628.2:c.973G>A, NM_001198628.1:c.973G>A, NM_001198634.2:c.1006G>A, NM_001198634.1:c.1006G>A, NM_001395209.1:c.1057G>A, XM_011517351.3:c.973G>A, XM_011517351.2:c.973G>A, XM_011517351.1:c.973G>A, XM_017013940.2:c.307G>A, XM_017013940.1:c.307G>A, XM_017013941.2:c.244G>A, XM_017013941.1:c.244G>A, XM_024447318.2:c.862G>A, XM_024447318.1:c.862G>A, XM_017013936.2:c.862G>A, XM_017013936.1:c.862G>A, XM_017013939.2:c.307G>A, XM_017013939.1:c.307G>A, XM_017013938.2:c.1150G>A, XM_017013938.1:c.1150G>A, XM_047422373.1:c.973G>A, XM_047422374.1:c.913G>A, XM_047422375.1:c.892G>A, XR_007060758.1:n.1316G>A, NP_004340.1:p.Asp298Asn, NP_783552.1:p.Asp325Asn, NP_001185608.1:p.Asp384Asn, NP_783553.1:p.Asp288Asn, NP_001185554.1:p.Asp298Asn, NP_001185562.1:p.Asp305Asn, NP_001185556.1:p.Asp325Asn, NP_001185555.1:p.Asp325Asn, NP_001185559.1:p.Asp325Asn, NP_001185558.1:p.Asp325Asn, NP_001185561.1:p.Asp298Asn, NP_783554.1:p.Asp288Asn, NP_001185560.1:p.Asp325Asn, NP_001185557.1:p.Asp325Asn, NP_001185563.1:p.Asp336Asn, NP_001382138.1:p.Asp353Asn, XP_011515653.1:p.Asp325Asn, XP_016869429.1:p.Asp103Asn, XP_016869430.1:p.Asp82Asn, XP_024303086.1:p.Asp288Asn, XP_016869425.1:p.Asp288Asn, XP_016869428.1:p.Asp103Asn, XP_016869427.1:p.Asp384Asn, XP_047278329.1:p.Asp325Asn, XP_047278330.1:p.Asp305Asn, XP_047278331.1:p.Asp298Asn

                                        20.

                                        rs1456444144 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          8:92014653 (GRCh38)
                                          8:93026881 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:92014652:T:C
                                          Gene:
                                          RUNX1T1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000094/2 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000008.11:g.92014653T>C, NC_000008.10:g.93026881T>C, NG_023272.3:g.93574A>G, NM_004349.4:c.313A>G, NM_004349.3:c.313A>G, NM_175634.3:c.394A>G, NM_175634.2:c.394A>G, NM_001198679.3:c.571A>G, NM_001198679.2:c.571A>G, NM_001198679.1:c.571A>G, NM_175635.3:c.283A>G, NM_175635.2:c.283A>G, NM_001198625.2:c.313A>G, NM_001198625.1:c.313A>G, NM_001198633.2:c.334A>G, NM_001198633.1:c.334A>G, NM_001198627.2:c.394A>G, NM_001198627.1:c.394A>G, NM_001198626.2:c.394A>G, NM_001198626.1:c.394A>G, NM_001198630.2:c.394A>G, NM_001198630.1:c.394A>G, NM_001198629.2:c.394A>G, NM_001198629.1:c.394A>G, NM_001198632.2:c.313A>G, NM_001198632.1:c.313A>G, NM_175636.2:c.283A>G, NM_001198631.2:c.394A>G, NM_001198631.1:c.394A>G, NM_001198628.2:c.394A>G, NM_001198628.1:c.394A>G, NM_001198634.2:c.427A>G, NM_001198634.1:c.427A>G, NM_001395209.1:c.478A>G, XM_011517351.3:c.394A>G, XM_011517351.2:c.394A>G, XM_011517351.1:c.394A>G, XM_024447318.2:c.283A>G, XM_024447318.1:c.283A>G, XM_017013936.2:c.283A>G, XM_017013936.1:c.283A>G, XM_017013938.2:c.571A>G, XM_017013938.1:c.571A>G, XM_047422373.1:c.394A>G, XM_047422374.1:c.334A>G, XM_047422375.1:c.313A>G, XR_007060758.1:n.737A>G, NP_004340.1:p.Thr105Ala, NP_783552.1:p.Thr132Ala, NP_001185608.1:p.Thr191Ala, NP_783553.1:p.Thr95Ala, NP_001185554.1:p.Thr105Ala, NP_001185562.1:p.Thr112Ala, NP_001185556.1:p.Thr132Ala, NP_001185555.1:p.Thr132Ala, NP_001185559.1:p.Thr132Ala, NP_001185558.1:p.Thr132Ala, NP_001185561.1:p.Thr105Ala, NP_783554.1:p.Thr95Ala, NP_001185560.1:p.Thr132Ala, NP_001185557.1:p.Thr132Ala, NP_001185563.1:p.Thr143Ala, NP_001382138.1:p.Thr160Ala, XP_011515653.1:p.Thr132Ala, XP_024303086.1:p.Thr95Ala, XP_016869425.1:p.Thr95Ala, XP_016869427.1:p.Thr191Ala, XP_047278329.1:p.Thr132Ala, XP_047278330.1:p.Thr112Ala, XP_047278331.1:p.Thr105Ala

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