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Items: 1 to 20 of 476

1.

rs1488763689 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    21:34792363 (GRCh38)
    21:36164660 (GRCh37)
    Canonical SPDI:
    NC_000021.9:34792362:C:G,NC_000021.9:34792362:C:T
    Gene:
    RUNX1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000047/1 (ALFA)
    T=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000021.9:g.34792363C>G, NC_000021.9:g.34792363C>T, NC_000021.8:g.36164660C>G, NC_000021.8:g.36164660C>T, NG_011402.2:g.1197349G>C, NG_011402.2:g.1197349G>A, NM_001754.5:c.1215G>C, NM_001754.5:c.1215G>A, NM_001754.4:c.1215G>C, NM_001754.4:c.1215G>A, NM_001001890.3:c.1134G>C, NM_001001890.3:c.1134G>A, NM_001001890.2:c.1134G>C, NM_001001890.2:c.1134G>A, XM_005261069.5:c.1023G>C, XM_005261069.5:c.1023G>A, XM_005261069.4:c.1023G>C, XM_005261069.4:c.1023G>A, XM_005261069.3:c.1023G>C, XM_005261069.3:c.1023G>A, XM_005261069.2:c.1023G>C, XM_005261069.2:c.1023G>A, XM_005261069.1:c.1023G>C, XM_005261069.1:c.1023G>A, XM_005261068.4:c.1179G>C, XM_005261068.4:c.1179G>A, XM_005261068.3:c.1179G>C, XM_005261068.3:c.1179G>A, XM_005261068.2:c.1179G>C, XM_005261068.2:c.1179G>A, XM_005261068.1:c.1179G>C, XM_005261068.1:c.1179G>A, XM_011529766.3:c.1215G>C, XM_011529766.3:c.1215G>A, XM_011529766.2:c.1215G>C, XM_011529766.2:c.1215G>A, XM_011529766.1:c.1215G>C, XM_011529766.1:c.1215G>A, XM_011529767.3:c.1176G>C, XM_011529767.3:c.1176G>A, XM_011529767.2:c.1176G>C, XM_011529767.2:c.1176G>A, XM_011529767.1:c.1176G>C, XM_011529767.1:c.1176G>A, XM_011529768.3:c.984G>C, XM_011529768.3:c.984G>A, XM_011529768.2:c.984G>C, XM_011529768.2:c.984G>A, XM_011529768.1:c.984G>C, XM_011529768.1:c.984G>A, XM_047441007.1:c.1215G>C, XM_047441007.1:c.1215G>A, XM_047441009.1:c.1176G>C, XM_047441009.1:c.1176G>A, XM_047441010.1:c.1176G>C, XM_047441010.1:c.1176G>A, XM_047441011.1:c.1023G>C, XM_047441011.1:c.1023G>A, XM_047441014.1:c.984G>C, XM_047441014.1:c.984G>A, XM_047441012.1:c.1023G>C, XM_047441012.1:c.1023G>A, XM_047441015.1:c.984G>C, XM_047441015.1:c.984G>A, XM_047441013.1:c.987G>C, XM_047441013.1:c.987G>A

    2.

    rs1488046521 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      21:34792429 (GRCh38)
      21:36164726 (GRCh37)
      Canonical SPDI:
      NC_000021.9:34792428:C:A,NC_000021.9:34792428:C:T
      Gene:
      RUNX1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Clinical significance:
      likely-benign
      Validated:
      by cluster
      HGVS:
      NC_000021.9:g.34792429C>A, NC_000021.9:g.34792429C>T, NC_000021.8:g.36164726C>A, NC_000021.8:g.36164726C>T, NG_011402.2:g.1197283G>T, NG_011402.2:g.1197283G>A, NM_001754.5:c.1149G>T, NM_001754.5:c.1149G>A, NM_001754.4:c.1149G>T, NM_001754.4:c.1149G>A, NM_001001890.3:c.1068G>T, NM_001001890.3:c.1068G>A, NM_001001890.2:c.1068G>T, NM_001001890.2:c.1068G>A, XM_005261069.5:c.957G>T, XM_005261069.5:c.957G>A, XM_005261069.4:c.957G>T, XM_005261069.4:c.957G>A, XM_005261069.3:c.957G>T, XM_005261069.3:c.957G>A, XM_005261069.2:c.957G>T, XM_005261069.2:c.957G>A, XM_005261069.1:c.957G>T, XM_005261069.1:c.957G>A, XM_005261068.4:c.1113G>T, XM_005261068.4:c.1113G>A, XM_005261068.3:c.1113G>T, XM_005261068.3:c.1113G>A, XM_005261068.2:c.1113G>T, XM_005261068.2:c.1113G>A, XM_005261068.1:c.1113G>T, XM_005261068.1:c.1113G>A, XM_011529766.3:c.1149G>T, XM_011529766.3:c.1149G>A, XM_011529766.2:c.1149G>T, XM_011529766.2:c.1149G>A, XM_011529766.1:c.1149G>T, XM_011529766.1:c.1149G>A, XM_011529767.3:c.1110G>T, XM_011529767.3:c.1110G>A, XM_011529767.2:c.1110G>T, XM_011529767.2:c.1110G>A, XM_011529767.1:c.1110G>T, XM_011529767.1:c.1110G>A, XM_011529768.3:c.918G>T, XM_011529768.3:c.918G>A, XM_011529768.2:c.918G>T, XM_011529768.2:c.918G>A, XM_011529768.1:c.918G>T, XM_011529768.1:c.918G>A, XM_047441007.1:c.1149G>T, XM_047441007.1:c.1149G>A, XM_047441009.1:c.1110G>T, XM_047441009.1:c.1110G>A, XM_047441010.1:c.1110G>T, XM_047441010.1:c.1110G>A, XM_047441011.1:c.957G>T, XM_047441011.1:c.957G>A, XM_047441014.1:c.918G>T, XM_047441014.1:c.918G>A, XM_047441012.1:c.957G>T, XM_047441012.1:c.957G>A, XM_047441015.1:c.918G>T, XM_047441015.1:c.918G>A, XM_047441013.1:c.921G>T, XM_047441013.1:c.921G>A

      3.

      rs1487924415 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        21:34886968 (GRCh38)
        21:36259265 (GRCh37)
        Canonical SPDI:
        NC_000021.9:34886967:G:A,NC_000021.9:34886967:G:C,NC_000021.9:34886967:G:T
        Gene:
        RUNX1 (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000021.9:g.34886968G>A, NC_000021.9:g.34886968G>C, NC_000021.9:g.34886968G>T, NC_000021.8:g.36259265G>A, NC_000021.8:g.36259265G>C, NC_000021.8:g.36259265G>T, NG_011402.2:g.1102744C>T, NG_011402.2:g.1102744C>G, NG_011402.2:g.1102744C>A, NM_001754.5:c.226C>T, NM_001754.5:c.226C>G, NM_001754.5:c.226C>A, NM_001754.4:c.226C>T, NM_001754.4:c.226C>G, NM_001754.4:c.226C>A, NM_001001890.3:c.145C>T, NM_001001890.3:c.145C>G, NM_001001890.3:c.145C>A, NM_001001890.2:c.145C>T, NM_001001890.2:c.145C>G, NM_001001890.2:c.145C>A, NM_001122607.2:c.145C>T, NM_001122607.2:c.145C>G, NM_001122607.2:c.145C>A, NM_001122607.1:c.145C>T, NM_001122607.1:c.145C>G, NM_001122607.1:c.145C>A, XM_005261069.5:c.226C>T, XM_005261069.5:c.226C>G, XM_005261069.5:c.226C>A, XM_005261069.4:c.226C>T, XM_005261069.4:c.226C>G, XM_005261069.4:c.226C>A, XM_005261069.3:c.226C>T, XM_005261069.3:c.226C>G, XM_005261069.3:c.226C>A, XM_005261069.2:c.226C>T, XM_005261069.2:c.226C>G, XM_005261069.2:c.226C>A, XM_005261069.1:c.226C>T, XM_005261069.1:c.226C>G, XM_005261069.1:c.226C>A, XM_005261068.4:c.190C>T, XM_005261068.4:c.190C>G, XM_005261068.4:c.190C>A, XM_005261068.3:c.190C>T, XM_005261068.3:c.190C>G, XM_005261068.3:c.190C>A, XM_005261068.2:c.190C>T, XM_005261068.2:c.190C>G, XM_005261068.2:c.190C>A, XM_005261068.1:c.190C>T, XM_005261068.1:c.190C>G, XM_005261068.1:c.190C>A, XM_011529766.3:c.226C>T, XM_011529766.3:c.226C>G, XM_011529766.3:c.226C>A, XM_011529766.2:c.226C>T, XM_011529766.2:c.226C>G, XM_011529766.2:c.226C>A, XM_011529766.1:c.226C>T, XM_011529766.1:c.226C>G, XM_011529766.1:c.226C>A, XM_011529767.3:c.187C>T, XM_011529767.3:c.187C>G, XM_011529767.3:c.187C>A, XM_011529767.2:c.187C>T, XM_011529767.2:c.187C>G, XM_011529767.2:c.187C>A, XM_011529767.1:c.187C>T, XM_011529767.1:c.187C>G, XM_011529767.1:c.187C>A, XM_011529768.3:c.187C>T, XM_011529768.3:c.187C>G, XM_011529768.3:c.187C>A, XM_011529768.2:c.187C>T, XM_011529768.2:c.187C>G, XM_011529768.2:c.187C>A, XM_011529768.1:c.187C>T, XM_011529768.1:c.187C>G, XM_011529768.1:c.187C>A, XM_011529770.3:c.226C>T, XM_011529770.3:c.226C>G, XM_011529770.3:c.226C>A, XM_011529770.2:c.226C>T, XM_011529770.2:c.226C>G, XM_011529770.2:c.226C>A, XM_011529770.1:c.226C>T, XM_011529770.1:c.226C>G, XM_011529770.1:c.226C>A, XM_047441007.1:c.226C>T, XM_047441007.1:c.226C>G, XM_047441007.1:c.226C>A, XM_047441009.1:c.187C>T, XM_047441009.1:c.187C>G, XM_047441009.1:c.187C>A, XM_047441010.1:c.187C>T, XM_047441010.1:c.187C>G, XM_047441010.1:c.187C>A, XM_047441011.1:c.226C>T, XM_047441011.1:c.226C>G, XM_047441011.1:c.226C>A, XM_047441014.1:c.187C>T, XM_047441014.1:c.187C>G, XM_047441014.1:c.187C>A, XM_047441012.1:c.226C>T, XM_047441012.1:c.226C>G, XM_047441012.1:c.226C>A, XM_047441015.1:c.187C>T, XM_047441015.1:c.187C>G, XM_047441015.1:c.187C>A, XM_047441013.1:c.190C>T, XM_047441013.1:c.190C>G, XM_047441013.1:c.190C>A, NP_001745.2:p.Arg76Cys, NP_001745.2:p.Arg76Gly, NP_001745.2:p.Arg76Ser, NP_001001890.1:p.Arg49Cys, NP_001001890.1:p.Arg49Gly, NP_001001890.1:p.Arg49Ser, NP_001116079.1:p.Arg49Cys, NP_001116079.1:p.Arg49Gly, NP_001116079.1:p.Arg49Ser, XP_005261126.1:p.Arg76Cys, XP_005261126.1:p.Arg76Gly, XP_005261126.1:p.Arg76Ser, XP_005261125.1:p.Arg64Cys, XP_005261125.1:p.Arg64Gly, XP_005261125.1:p.Arg64Ser, XP_011528068.1:p.Arg76Cys, XP_011528068.1:p.Arg76Gly, XP_011528068.1:p.Arg76Ser, XP_011528069.1:p.Arg63Cys, XP_011528069.1:p.Arg63Gly, XP_011528069.1:p.Arg63Ser, XP_011528070.1:p.Arg63Cys, XP_011528070.1:p.Arg63Gly, XP_011528070.1:p.Arg63Ser, XP_011528072.1:p.Arg76Cys, XP_011528072.1:p.Arg76Gly, XP_011528072.1:p.Arg76Ser, XP_047296963.1:p.Arg76Cys, XP_047296963.1:p.Arg76Gly, XP_047296963.1:p.Arg76Ser, XP_047296965.1:p.Arg63Cys, XP_047296965.1:p.Arg63Gly, XP_047296965.1:p.Arg63Ser, XP_047296966.1:p.Arg63Cys, XP_047296966.1:p.Arg63Gly, XP_047296966.1:p.Arg63Ser, XP_047296967.1:p.Arg76Cys, XP_047296967.1:p.Arg76Gly, XP_047296967.1:p.Arg76Ser, XP_047296970.1:p.Arg63Cys, XP_047296970.1:p.Arg63Gly, XP_047296970.1:p.Arg63Ser, XP_047296968.1:p.Arg76Cys, XP_047296968.1:p.Arg76Gly, XP_047296968.1:p.Arg76Ser, XP_047296971.1:p.Arg63Cys, XP_047296971.1:p.Arg63Gly, XP_047296971.1:p.Arg63Ser, XP_047296969.1:p.Arg64Cys, XP_047296969.1:p.Arg64Gly, XP_047296969.1:p.Arg64Ser

        4.

        rs1482583619 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          21:34792293 (GRCh38)
          21:36164590 (GRCh37)
          Canonical SPDI:
          NC_000021.9:34792292:G:A
          Gene:
          RUNX1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency
          MAF:
          A=0.000007/1 (GnomAD_exomes)
          HGVS:
          NC_000021.9:g.34792293G>A, NC_000021.8:g.36164590G>A, NG_011402.2:g.1197419C>T, NM_001754.5:c.1285C>T, NM_001754.4:c.1285C>T, NM_001001890.3:c.1204C>T, NM_001001890.2:c.1204C>T, XM_005261069.5:c.1093C>T, XM_005261069.4:c.1093C>T, XM_005261069.3:c.1093C>T, XM_005261069.2:c.1093C>T, XM_005261069.1:c.1093C>T, XM_005261068.4:c.1249C>T, XM_005261068.3:c.1249C>T, XM_005261068.2:c.1249C>T, XM_005261068.1:c.1249C>T, XM_011529766.3:c.1285C>T, XM_011529766.2:c.1285C>T, XM_011529766.1:c.1285C>T, XM_011529767.3:c.1246C>T, XM_011529767.2:c.1246C>T, XM_011529767.1:c.1246C>T, XM_011529768.3:c.1054C>T, XM_011529768.2:c.1054C>T, XM_011529768.1:c.1054C>T, XM_047441007.1:c.1285C>T, XM_047441009.1:c.1246C>T, XM_047441010.1:c.1246C>T, XM_047441011.1:c.1093C>T, XM_047441014.1:c.1054C>T, XM_047441012.1:c.1093C>T, XM_047441015.1:c.1054C>T, XM_047441013.1:c.1057C>T

          5.

          rs1482518887 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            21:34887018 (GRCh38)
            21:36259315 (GRCh37)
            Canonical SPDI:
            NC_000021.9:34887017:C:T
            Gene:
            RUNX1 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_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_000021.9:g.34887018C>T, NC_000021.8:g.36259315C>T, NG_011402.2:g.1102694G>A, NM_001754.5:c.176G>A, NM_001754.4:c.176G>A, NM_001001890.3:c.95G>A, NM_001001890.2:c.95G>A, NM_001122607.2:c.95G>A, NM_001122607.1:c.95G>A, XM_005261069.5:c.176G>A, XM_005261069.4:c.176G>A, XM_005261069.3:c.176G>A, XM_005261069.2:c.176G>A, XM_005261069.1:c.176G>A, XM_005261068.4:c.140G>A, XM_005261068.3:c.140G>A, XM_005261068.2:c.140G>A, XM_005261068.1:c.140G>A, XM_011529766.3:c.176G>A, XM_011529766.2:c.176G>A, XM_011529766.1:c.176G>A, XM_011529767.3:c.137G>A, XM_011529767.2:c.137G>A, XM_011529767.1:c.137G>A, XM_011529768.3:c.137G>A, XM_011529768.2:c.137G>A, XM_011529768.1:c.137G>A, XM_011529770.3:c.176G>A, XM_011529770.2:c.176G>A, XM_011529770.1:c.176G>A, XM_047441007.1:c.176G>A, XM_047441009.1:c.137G>A, XM_047441010.1:c.137G>A, XM_047441011.1:c.176G>A, XM_047441014.1:c.137G>A, XM_047441012.1:c.176G>A, XM_047441015.1:c.137G>A, XM_047441013.1:c.140G>A, NP_001745.2:p.Gly59Asp, NP_001001890.1:p.Gly32Asp, NP_001116079.1:p.Gly32Asp, XP_005261126.1:p.Gly59Asp, XP_005261125.1:p.Gly47Asp, XP_011528068.1:p.Gly59Asp, XP_011528069.1:p.Gly46Asp, XP_011528070.1:p.Gly46Asp, XP_011528072.1:p.Gly59Asp, XP_047296963.1:p.Gly59Asp, XP_047296965.1:p.Gly46Asp, XP_047296966.1:p.Gly46Asp, XP_047296967.1:p.Gly59Asp, XP_047296970.1:p.Gly46Asp, XP_047296968.1:p.Gly59Asp, XP_047296971.1:p.Gly46Asp, XP_047296969.1:p.Gly47Asp

            6.

            rs1480547134 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              21:34834511 (GRCh38)
              21:36206808 (GRCh37)
              Canonical SPDI:
              NC_000021.9:34834510:G:A,NC_000021.9:34834510:G:C
              Gene:
              RUNX1 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000021.9:g.34834511G>A, NC_000021.9:g.34834511G>C, NC_000021.8:g.36206808G>A, NC_000021.8:g.36206808G>C, NG_011402.2:g.1155201C>T, NG_011402.2:g.1155201C>G, NM_001754.5:c.704C>T, NM_001754.5:c.704C>G, NM_001754.4:c.704C>T, NM_001754.4:c.704C>G, NM_001001890.3:c.623C>T, NM_001001890.3:c.623C>G, NM_001001890.2:c.623C>T, NM_001001890.2:c.623C>G, NM_001122607.2:c.623C>T, NM_001122607.2:c.623C>G, NM_001122607.1:c.623C>T, NM_001122607.1:c.623C>G, XM_005261068.4:c.668C>T, XM_005261068.4:c.668C>G, XM_005261068.3:c.668C>T, XM_005261068.3:c.668C>G, XM_005261068.2:c.668C>T, XM_005261068.2:c.668C>G, XM_005261068.1:c.668C>T, XM_005261068.1:c.668C>G, XM_011529766.3:c.704C>T, XM_011529766.3:c.704C>G, XM_011529766.2:c.704C>T, XM_011529766.2:c.704C>G, XM_011529766.1:c.704C>T, XM_011529766.1:c.704C>G, XM_011529767.3:c.665C>T, XM_011529767.3:c.665C>G, XM_011529767.2:c.665C>T, XM_011529767.2:c.665C>G, XM_011529767.1:c.665C>T, XM_011529767.1:c.665C>G, XM_011529770.3:c.704C>T, XM_011529770.3:c.704C>G, XM_011529770.2:c.704C>T, XM_011529770.2:c.704C>G, XM_011529770.1:c.704C>T, XM_011529770.1:c.704C>G, XM_047441007.1:c.704C>T, XM_047441007.1:c.704C>G, XM_047441009.1:c.665C>T, XM_047441009.1:c.665C>G, XM_047441010.1:c.665C>T, XM_047441010.1:c.665C>G, NP_001745.2:p.Ala235Val, NP_001745.2:p.Ala235Gly, NP_001001890.1:p.Ala208Val, NP_001001890.1:p.Ala208Gly, NP_001116079.1:p.Ala208Val, NP_001116079.1:p.Ala208Gly, XP_005261125.1:p.Ala223Val, XP_005261125.1:p.Ala223Gly, XP_011528068.1:p.Ala235Val, XP_011528068.1:p.Ala235Gly, XP_011528069.1:p.Ala222Val, XP_011528069.1:p.Ala222Gly, XP_011528072.1:p.Ala235Val, XP_011528072.1:p.Ala235Gly, XP_047296963.1:p.Ala235Val, XP_047296963.1:p.Ala235Gly, XP_047296965.1:p.Ala222Val, XP_047296965.1:p.Ala222Gly, XP_047296966.1:p.Ala222Val, XP_047296966.1:p.Ala222Gly

              7.

              rs1477123742 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                21:34792320 (GRCh38)
                21:36164617 (GRCh37)
                Canonical SPDI:
                NC_000021.9:34792319:C:T
                Gene:
                RUNX1 (Varview)
                Functional Consequence:
                missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000021.9:g.34792320C>T, NC_000021.8:g.36164617C>T, NG_011402.2:g.1197392G>A, NM_001754.5:c.1258G>A, NM_001754.4:c.1258G>A, NM_001001890.3:c.1177G>A, NM_001001890.2:c.1177G>A, XM_005261069.5:c.1066G>A, XM_005261069.4:c.1066G>A, XM_005261069.3:c.1066G>A, XM_005261069.2:c.1066G>A, XM_005261069.1:c.1066G>A, XM_005261068.4:c.1222G>A, XM_005261068.3:c.1222G>A, XM_005261068.2:c.1222G>A, XM_005261068.1:c.1222G>A, XM_011529766.3:c.1258G>A, XM_011529766.2:c.1258G>A, XM_011529766.1:c.1258G>A, XM_011529767.3:c.1219G>A, XM_011529767.2:c.1219G>A, XM_011529767.1:c.1219G>A, XM_011529768.3:c.1027G>A, XM_011529768.2:c.1027G>A, XM_011529768.1:c.1027G>A, XM_047441007.1:c.1258G>A, XM_047441009.1:c.1219G>A, XM_047441010.1:c.1219G>A, XM_047441011.1:c.1066G>A, XM_047441014.1:c.1027G>A, XM_047441012.1:c.1066G>A, XM_047441015.1:c.1027G>A, XM_047441013.1:c.1030G>A, NP_001745.2:p.Gly420Ser, NP_001001890.1:p.Gly393Ser, XP_005261126.1:p.Gly356Ser, XP_005261125.1:p.Gly408Ser, XP_011528068.1:p.Gly420Ser, XP_011528069.1:p.Gly407Ser, XP_011528070.1:p.Gly343Ser, XP_047296963.1:p.Gly420Ser, XP_047296965.1:p.Gly407Ser, XP_047296966.1:p.Gly407Ser, XP_047296967.1:p.Gly356Ser, XP_047296970.1:p.Gly343Ser, XP_047296968.1:p.Gly356Ser, XP_047296971.1:p.Gly343Ser, XP_047296969.1:p.Gly344Ser

                8.

                rs1477060839 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  21:34792581 (GRCh38)
                  21:36164878 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:34792580:G:A
                  Gene:
                  RUNX1 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.00005/1 (ALFA)
                  HGVS:
                  NC_000021.9:g.34792581G>A, NC_000021.8:g.36164878G>A, NG_011402.2:g.1197131C>T, NM_001754.5:c.997C>T, NM_001754.4:c.997C>T, NM_001001890.3:c.916C>T, NM_001001890.2:c.916C>T, XM_005261069.5:c.805C>T, XM_005261069.4:c.805C>T, XM_005261069.3:c.805C>T, XM_005261069.2:c.805C>T, XM_005261069.1:c.805C>T, XM_005261068.4:c.961C>T, XM_005261068.3:c.961C>T, XM_005261068.2:c.961C>T, XM_005261068.1:c.961C>T, XM_011529766.3:c.997C>T, XM_011529766.2:c.997C>T, XM_011529766.1:c.997C>T, XM_011529767.3:c.958C>T, XM_011529767.2:c.958C>T, XM_011529767.1:c.958C>T, XM_011529768.3:c.766C>T, XM_011529768.2:c.766C>T, XM_011529768.1:c.766C>T, XM_047441007.1:c.997C>T, XM_047441009.1:c.958C>T, XM_047441010.1:c.958C>T, XM_047441011.1:c.805C>T, XM_047441014.1:c.766C>T, XM_047441012.1:c.805C>T, XM_047441015.1:c.766C>T, XM_047441013.1:c.769C>T, NP_001745.2:p.Pro333Ser, NP_001001890.1:p.Pro306Ser, XP_005261126.1:p.Pro269Ser, XP_005261125.1:p.Pro321Ser, XP_011528068.1:p.Pro333Ser, XP_011528069.1:p.Pro320Ser, XP_011528070.1:p.Pro256Ser, XP_047296963.1:p.Pro333Ser, XP_047296965.1:p.Pro320Ser, XP_047296966.1:p.Pro320Ser, XP_047296967.1:p.Pro269Ser, XP_047296970.1:p.Pro256Ser, XP_047296968.1:p.Pro269Ser, XP_047296971.1:p.Pro256Ser, XP_047296969.1:p.Pro257Ser

                  9.

                  rs1476276192 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    21:34792307 (GRCh38)
                    21:36164604 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:34792306:G:A,NC_000021.9:34792306:G:T
                    Gene:
                    RUNX1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000007/1 (GnomAD_exomes)
                    A=0.000049/13 (TOPMED)
                    HGVS:
                    NC_000021.9:g.34792307G>A, NC_000021.9:g.34792307G>T, NC_000021.8:g.36164604G>A, NC_000021.8:g.36164604G>T, NG_011402.2:g.1197405C>T, NG_011402.2:g.1197405C>A, NM_001754.5:c.1271C>T, NM_001754.5:c.1271C>A, NM_001754.4:c.1271C>T, NM_001754.4:c.1271C>A, NM_001001890.3:c.1190C>T, NM_001001890.3:c.1190C>A, NM_001001890.2:c.1190C>T, NM_001001890.2:c.1190C>A, XM_005261069.5:c.1079C>T, XM_005261069.5:c.1079C>A, XM_005261069.4:c.1079C>T, XM_005261069.4:c.1079C>A, XM_005261069.3:c.1079C>T, XM_005261069.3:c.1079C>A, XM_005261069.2:c.1079C>T, XM_005261069.2:c.1079C>A, XM_005261069.1:c.1079C>T, XM_005261069.1:c.1079C>A, XM_005261068.4:c.1235C>T, XM_005261068.4:c.1235C>A, XM_005261068.3:c.1235C>T, XM_005261068.3:c.1235C>A, XM_005261068.2:c.1235C>T, XM_005261068.2:c.1235C>A, XM_005261068.1:c.1235C>T, XM_005261068.1:c.1235C>A, XM_011529766.3:c.1271C>T, XM_011529766.3:c.1271C>A, XM_011529766.2:c.1271C>T, XM_011529766.2:c.1271C>A, XM_011529766.1:c.1271C>T, XM_011529766.1:c.1271C>A, XM_011529767.3:c.1232C>T, XM_011529767.3:c.1232C>A, XM_011529767.2:c.1232C>T, XM_011529767.2:c.1232C>A, XM_011529767.1:c.1232C>T, XM_011529767.1:c.1232C>A, XM_011529768.3:c.1040C>T, XM_011529768.3:c.1040C>A, XM_011529768.2:c.1040C>T, XM_011529768.2:c.1040C>A, XM_011529768.1:c.1040C>T, XM_011529768.1:c.1040C>A, XM_047441007.1:c.1271C>T, XM_047441007.1:c.1271C>A, XM_047441009.1:c.1232C>T, XM_047441009.1:c.1232C>A, XM_047441010.1:c.1232C>T, XM_047441010.1:c.1232C>A, XM_047441011.1:c.1079C>T, XM_047441011.1:c.1079C>A, XM_047441014.1:c.1040C>T, XM_047441014.1:c.1040C>A, XM_047441012.1:c.1079C>T, XM_047441012.1:c.1079C>A, XM_047441015.1:c.1040C>T, XM_047441015.1:c.1040C>A, XM_047441013.1:c.1043C>T, XM_047441013.1:c.1043C>A, NP_001745.2:p.Ser424Leu, NP_001745.2:p.Ser424Ter, NP_001001890.1:p.Ser397Leu, NP_001001890.1:p.Ser397Ter, XP_005261126.1:p.Ser360Leu, XP_005261126.1:p.Ser360Ter, XP_005261125.1:p.Ser412Leu, XP_005261125.1:p.Ser412Ter, XP_011528068.1:p.Ser424Leu, XP_011528068.1:p.Ser424Ter, XP_011528069.1:p.Ser411Leu, XP_011528069.1:p.Ser411Ter, XP_011528070.1:p.Ser347Leu, XP_011528070.1:p.Ser347Ter, XP_047296963.1:p.Ser424Leu, XP_047296963.1:p.Ser424Ter, XP_047296965.1:p.Ser411Leu, XP_047296965.1:p.Ser411Ter, XP_047296966.1:p.Ser411Leu, XP_047296966.1:p.Ser411Ter, XP_047296967.1:p.Ser360Leu, XP_047296967.1:p.Ser360Ter, XP_047296970.1:p.Ser347Leu, XP_047296970.1:p.Ser347Ter, XP_047296968.1:p.Ser360Leu, XP_047296968.1:p.Ser360Ter, XP_047296971.1:p.Ser347Leu, XP_047296971.1:p.Ser347Ter, XP_047296969.1:p.Ser348Leu, XP_047296969.1:p.Ser348Ter

                    10.

                    rs1476051141 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,G [Show Flanks]
                      Chromosome:
                      21:34799340 (GRCh38)
                      21:36171637 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:34799339:T:A,NC_000021.9:34799339:T:G
                      Gene:
                      RUNX1 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000021.9:g.34799340T>A, NC_000021.9:g.34799340T>G, NC_000021.8:g.36171637T>A, NC_000021.8:g.36171637T>G, NG_011402.2:g.1190372A>T, NG_011402.2:g.1190372A>C, NM_001754.5:c.928A>T, NM_001754.5:c.928A>C, NM_001754.4:c.928A>T, NM_001754.4:c.928A>C, NM_001001890.3:c.847A>T, NM_001001890.3:c.847A>C, NM_001001890.2:c.847A>T, NM_001001890.2:c.847A>C, XM_005261069.5:c.736A>T, XM_005261069.5:c.736A>C, XM_005261069.4:c.736A>T, XM_005261069.4:c.736A>C, XM_005261069.3:c.736A>T, XM_005261069.3:c.736A>C, XM_005261069.2:c.736A>T, XM_005261069.2:c.736A>C, XM_005261069.1:c.736A>T, XM_005261069.1:c.736A>C, XM_005261068.4:c.892A>T, XM_005261068.4:c.892A>C, XM_005261068.3:c.892A>T, XM_005261068.3:c.892A>C, XM_005261068.2:c.892A>T, XM_005261068.2:c.892A>C, XM_005261068.1:c.892A>T, XM_005261068.1:c.892A>C, XM_011529766.3:c.928A>T, XM_011529766.3:c.928A>C, XM_011529766.2:c.928A>T, XM_011529766.2:c.928A>C, XM_011529766.1:c.928A>T, XM_011529766.1:c.928A>C, XM_011529767.3:c.889A>T, XM_011529767.3:c.889A>C, XM_011529767.2:c.889A>T, XM_011529767.2:c.889A>C, XM_011529767.1:c.889A>T, XM_011529767.1:c.889A>C, XM_011529768.3:c.697A>T, XM_011529768.3:c.697A>C, XM_011529768.2:c.697A>T, XM_011529768.2:c.697A>C, XM_011529768.1:c.697A>T, XM_011529768.1:c.697A>C, XM_047441007.1:c.928A>T, XM_047441007.1:c.928A>C, XM_047441009.1:c.889A>T, XM_047441009.1:c.889A>C, XM_047441010.1:c.889A>T, XM_047441010.1:c.889A>C, XM_047441011.1:c.736A>T, XM_047441011.1:c.736A>C, XM_047441014.1:c.697A>T, XM_047441014.1:c.697A>C, XM_047441012.1:c.736A>T, XM_047441012.1:c.736A>C, XM_047441015.1:c.697A>T, XM_047441015.1:c.697A>C, XM_047441013.1:c.700A>T, XM_047441013.1:c.700A>C, NP_001745.2:p.Met310Leu, NP_001745.2:p.Met310Leu, NP_001001890.1:p.Met283Leu, NP_001001890.1:p.Met283Leu, XP_005261126.1:p.Met246Leu, XP_005261126.1:p.Met246Leu, XP_005261125.1:p.Met298Leu, XP_005261125.1:p.Met298Leu, XP_011528068.1:p.Met310Leu, XP_011528068.1:p.Met310Leu, XP_011528069.1:p.Met297Leu, XP_011528069.1:p.Met297Leu, XP_011528070.1:p.Met233Leu, XP_011528070.1:p.Met233Leu, XP_047296963.1:p.Met310Leu, XP_047296963.1:p.Met310Leu, XP_047296965.1:p.Met297Leu, XP_047296965.1:p.Met297Leu, XP_047296966.1:p.Met297Leu, XP_047296966.1:p.Met297Leu, XP_047296967.1:p.Met246Leu, XP_047296967.1:p.Met246Leu, XP_047296970.1:p.Met233Leu, XP_047296970.1:p.Met233Leu, XP_047296968.1:p.Met246Leu, XP_047296968.1:p.Met246Leu, XP_047296971.1:p.Met233Leu, XP_047296971.1:p.Met233Leu, XP_047296969.1:p.Met234Leu, XP_047296969.1:p.Met234Leu

                      11.

                      rs1473182680 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        21:34887030 (GRCh38)
                        21:36259327 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:34887029:G:A,NC_000021.9:34887029:G:T
                        Gene:
                        RUNX1 (Varview)
                        Functional Consequence:
                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                        Clinical significance:
                        uncertain-significance,likely-pathogenic
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000013/3 (GnomAD_exomes)
                        HGVS:
                        NC_000021.9:g.34887030G>A, NC_000021.9:g.34887030G>T, NC_000021.8:g.36259327G>A, NC_000021.8:g.36259327G>T, NG_011402.2:g.1102682C>T, NG_011402.2:g.1102682C>A, NM_001754.5:c.164C>T, NM_001754.5:c.164C>A, NM_001754.4:c.164C>T, NM_001754.4:c.164C>A, NM_001001890.3:c.83C>T, NM_001001890.3:c.83C>A, NM_001001890.2:c.83C>T, NM_001001890.2:c.83C>A, NM_001122607.2:c.83C>T, NM_001122607.2:c.83C>A, NM_001122607.1:c.83C>T, NM_001122607.1:c.83C>A, XM_005261069.5:c.164C>T, XM_005261069.5:c.164C>A, XM_005261069.4:c.164C>T, XM_005261069.4:c.164C>A, XM_005261069.3:c.164C>T, XM_005261069.3:c.164C>A, XM_005261069.2:c.164C>T, XM_005261069.2:c.164C>A, XM_005261069.1:c.164C>T, XM_005261069.1:c.164C>A, XM_005261068.4:c.128C>T, XM_005261068.4:c.128C>A, XM_005261068.3:c.128C>T, XM_005261068.3:c.128C>A, XM_005261068.2:c.128C>T, XM_005261068.2:c.128C>A, XM_005261068.1:c.128C>T, XM_005261068.1:c.128C>A, XM_011529766.3:c.164C>T, XM_011529766.3:c.164C>A, XM_011529766.2:c.164C>T, XM_011529766.2:c.164C>A, XM_011529766.1:c.164C>T, XM_011529766.1:c.164C>A, XM_011529767.3:c.125C>T, XM_011529767.3:c.125C>A, XM_011529767.2:c.125C>T, XM_011529767.2:c.125C>A, XM_011529767.1:c.125C>T, XM_011529767.1:c.125C>A, XM_011529768.3:c.125C>T, XM_011529768.3:c.125C>A, XM_011529768.2:c.125C>T, XM_011529768.2:c.125C>A, XM_011529768.1:c.125C>T, XM_011529768.1:c.125C>A, XM_011529770.3:c.164C>T, XM_011529770.3:c.164C>A, XM_011529770.2:c.164C>T, XM_011529770.2:c.164C>A, XM_011529770.1:c.164C>T, XM_011529770.1:c.164C>A, XM_047441007.1:c.164C>T, XM_047441007.1:c.164C>A, XM_047441009.1:c.125C>T, XM_047441009.1:c.125C>A, XM_047441010.1:c.125C>T, XM_047441010.1:c.125C>A, XM_047441011.1:c.164C>T, XM_047441011.1:c.164C>A, XM_047441014.1:c.125C>T, XM_047441014.1:c.125C>A, XM_047441012.1:c.164C>T, XM_047441012.1:c.164C>A, XM_047441015.1:c.125C>T, XM_047441015.1:c.125C>A, XM_047441013.1:c.128C>T, XM_047441013.1:c.128C>A, NP_001745.2:p.Ala55Val, NP_001745.2:p.Ala55Glu, NP_001001890.1:p.Ala28Val, NP_001001890.1:p.Ala28Glu, NP_001116079.1:p.Ala28Val, NP_001116079.1:p.Ala28Glu, XP_005261126.1:p.Ala55Val, XP_005261126.1:p.Ala55Glu, XP_005261125.1:p.Ala43Val, XP_005261125.1:p.Ala43Glu, XP_011528068.1:p.Ala55Val, XP_011528068.1:p.Ala55Glu, XP_011528069.1:p.Ala42Val, XP_011528069.1:p.Ala42Glu, XP_011528070.1:p.Ala42Val, XP_011528070.1:p.Ala42Glu, XP_011528072.1:p.Ala55Val, XP_011528072.1:p.Ala55Glu, XP_047296963.1:p.Ala55Val, XP_047296963.1:p.Ala55Glu, XP_047296965.1:p.Ala42Val, XP_047296965.1:p.Ala42Glu, XP_047296966.1:p.Ala42Val, XP_047296966.1:p.Ala42Glu, XP_047296967.1:p.Ala55Val, XP_047296967.1:p.Ala55Glu, XP_047296970.1:p.Ala42Val, XP_047296970.1:p.Ala42Glu, XP_047296968.1:p.Ala55Val, XP_047296968.1:p.Ala55Glu, XP_047296971.1:p.Ala42Val, XP_047296971.1:p.Ala42Glu, XP_047296969.1:p.Ala43Val, XP_047296969.1:p.Ala43Glu

                        12.

                        rs1472759880 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          21:34887109 (GRCh38)
                          21:36259406 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:34887108:G:A,NC_000021.9:34887108:G:C
                          Gene:
                          RUNX1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000111/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.00006/1 (TOMMO)
                          HGVS:

                          13.

                          rs1470891103 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            21:34792507 (GRCh38)
                            21:36164804 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:34792506:C:G,NC_000021.9:34792506:C:T
                            Gene:
                            RUNX1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000009/2 (GnomAD_exomes)
                            HGVS:
                            NC_000021.9:g.34792507C>G, NC_000021.9:g.34792507C>T, NC_000021.8:g.36164804C>G, NC_000021.8:g.36164804C>T, NG_011402.2:g.1197205G>C, NG_011402.2:g.1197205G>A, NM_001754.5:c.1071G>C, NM_001754.5:c.1071G>A, NM_001754.4:c.1071G>C, NM_001754.4:c.1071G>A, NM_001001890.3:c.990G>C, NM_001001890.3:c.990G>A, NM_001001890.2:c.990G>C, NM_001001890.2:c.990G>A, XM_005261069.5:c.879G>C, XM_005261069.5:c.879G>A, XM_005261069.4:c.879G>C, XM_005261069.4:c.879G>A, XM_005261069.3:c.879G>C, XM_005261069.3:c.879G>A, XM_005261069.2:c.879G>C, XM_005261069.2:c.879G>A, XM_005261069.1:c.879G>C, XM_005261069.1:c.879G>A, XM_005261068.4:c.1035G>C, XM_005261068.4:c.1035G>A, XM_005261068.3:c.1035G>C, XM_005261068.3:c.1035G>A, XM_005261068.2:c.1035G>C, XM_005261068.2:c.1035G>A, XM_005261068.1:c.1035G>C, XM_005261068.1:c.1035G>A, XM_011529766.3:c.1071G>C, XM_011529766.3:c.1071G>A, XM_011529766.2:c.1071G>C, XM_011529766.2:c.1071G>A, XM_011529766.1:c.1071G>C, XM_011529766.1:c.1071G>A, XM_011529767.3:c.1032G>C, XM_011529767.3:c.1032G>A, XM_011529767.2:c.1032G>C, XM_011529767.2:c.1032G>A, XM_011529767.1:c.1032G>C, XM_011529767.1:c.1032G>A, XM_011529768.3:c.840G>C, XM_011529768.3:c.840G>A, XM_011529768.2:c.840G>C, XM_011529768.2:c.840G>A, XM_011529768.1:c.840G>C, XM_011529768.1:c.840G>A, XM_047441007.1:c.1071G>C, XM_047441007.1:c.1071G>A, XM_047441009.1:c.1032G>C, XM_047441009.1:c.1032G>A, XM_047441010.1:c.1032G>C, XM_047441010.1:c.1032G>A, XM_047441011.1:c.879G>C, XM_047441011.1:c.879G>A, XM_047441014.1:c.840G>C, XM_047441014.1:c.840G>A, XM_047441012.1:c.879G>C, XM_047441012.1:c.879G>A, XM_047441015.1:c.840G>C, XM_047441015.1:c.840G>A, XM_047441013.1:c.843G>C, XM_047441013.1:c.843G>A

                            14.

                            rs1463272999 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              21:34792231 (GRCh38)
                              21:36164528 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:34792230:C:A,NC_000021.9:34792230:C:G
                              Gene:
                              RUNX1 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000084/1 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000021.9:g.34792231C>A, NC_000021.9:g.34792231C>G, NC_000021.8:g.36164528C>A, NC_000021.8:g.36164528C>G, NG_011402.2:g.1197481G>T, NG_011402.2:g.1197481G>C, NM_001754.5:c.1347G>T, NM_001754.5:c.1347G>C, NM_001754.4:c.1347G>T, NM_001754.4:c.1347G>C, NM_001001890.3:c.1266G>T, NM_001001890.3:c.1266G>C, NM_001001890.2:c.1266G>T, NM_001001890.2:c.1266G>C, XM_005261069.5:c.1155G>T, XM_005261069.5:c.1155G>C, XM_005261069.4:c.1155G>T, XM_005261069.4:c.1155G>C, XM_005261069.3:c.1155G>T, XM_005261069.3:c.1155G>C, XM_005261069.2:c.1155G>T, XM_005261069.2:c.1155G>C, XM_005261069.1:c.1155G>T, XM_005261069.1:c.1155G>C, XM_005261068.4:c.1311G>T, XM_005261068.4:c.1311G>C, XM_005261068.3:c.1311G>T, XM_005261068.3:c.1311G>C, XM_005261068.2:c.1311G>T, XM_005261068.2:c.1311G>C, XM_005261068.1:c.1311G>T, XM_005261068.1:c.1311G>C, XM_011529766.3:c.1347G>T, XM_011529766.3:c.1347G>C, XM_011529766.2:c.1347G>T, XM_011529766.2:c.1347G>C, XM_011529766.1:c.1347G>T, XM_011529766.1:c.1347G>C, XM_011529767.3:c.1308G>T, XM_011529767.3:c.1308G>C, XM_011529767.2:c.1308G>T, XM_011529767.2:c.1308G>C, XM_011529767.1:c.1308G>T, XM_011529767.1:c.1308G>C, XM_011529768.3:c.1116G>T, XM_011529768.3:c.1116G>C, XM_011529768.2:c.1116G>T, XM_011529768.2:c.1116G>C, XM_011529768.1:c.1116G>T, XM_011529768.1:c.1116G>C, XM_047441007.1:c.1347G>T, XM_047441007.1:c.1347G>C, XM_047441009.1:c.1308G>T, XM_047441009.1:c.1308G>C, XM_047441010.1:c.1308G>T, XM_047441010.1:c.1308G>C, XM_047441011.1:c.1155G>T, XM_047441011.1:c.1155G>C, XM_047441014.1:c.1116G>T, XM_047441014.1:c.1116G>C, XM_047441012.1:c.1155G>T, XM_047441012.1:c.1155G>C, XM_047441015.1:c.1116G>T, XM_047441015.1:c.1116G>C, XM_047441013.1:c.1119G>T, XM_047441013.1:c.1119G>C, NP_001745.2:p.Gln449His, NP_001745.2:p.Gln449His, NP_001001890.1:p.Gln422His, NP_001001890.1:p.Gln422His, XP_005261126.1:p.Gln385His, XP_005261126.1:p.Gln385His, XP_005261125.1:p.Gln437His, XP_005261125.1:p.Gln437His, XP_011528068.1:p.Gln449His, XP_011528068.1:p.Gln449His, XP_011528069.1:p.Gln436His, XP_011528069.1:p.Gln436His, XP_011528070.1:p.Gln372His, XP_011528070.1:p.Gln372His, XP_047296963.1:p.Gln449His, XP_047296963.1:p.Gln449His, XP_047296965.1:p.Gln436His, XP_047296965.1:p.Gln436His, XP_047296966.1:p.Gln436His, XP_047296966.1:p.Gln436His, XP_047296967.1:p.Gln385His, XP_047296967.1:p.Gln385His, XP_047296970.1:p.Gln372His, XP_047296970.1:p.Gln372His, XP_047296968.1:p.Gln385His, XP_047296968.1:p.Gln385His, XP_047296971.1:p.Gln372His, XP_047296971.1:p.Gln372His, XP_047296969.1:p.Gln373His, XP_047296969.1:p.Gln373His

                              15.

                              rs1462077131 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                21:34887082 (GRCh38)
                                21:36259379 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:34887081:G:A
                                Gene:
                                RUNX1 (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                HGVS:
                                NC_000021.9:g.34887082G>A, NC_000021.8:g.36259379G>A, NG_011402.2:g.1102630C>T, NM_001754.5:c.112C>T, NM_001754.4:c.112C>T, NM_001001890.3:c.31C>T, NM_001001890.2:c.31C>T, NM_001122607.2:c.31C>T, NM_001122607.1:c.31C>T, XM_005261069.5:c.112C>T, XM_005261069.4:c.112C>T, XM_005261069.3:c.112C>T, XM_005261069.2:c.112C>T, XM_005261069.1:c.112C>T, XM_005261068.4:c.76C>T, XM_005261068.3:c.76C>T, XM_005261068.2:c.76C>T, XM_005261068.1:c.76C>T, XM_011529766.3:c.112C>T, XM_011529766.2:c.112C>T, XM_011529766.1:c.112C>T, XM_011529767.3:c.73C>T, XM_011529767.2:c.73C>T, XM_011529767.1:c.73C>T, XM_011529768.3:c.73C>T, XM_011529768.2:c.73C>T, XM_011529768.1:c.73C>T, XM_011529770.3:c.112C>T, XM_011529770.2:c.112C>T, XM_011529770.1:c.112C>T, XM_047441007.1:c.112C>T, XM_047441009.1:c.73C>T, XM_047441010.1:c.73C>T, XM_047441011.1:c.112C>T, XM_047441014.1:c.73C>T, XM_047441012.1:c.112C>T, XM_047441015.1:c.73C>T, XM_047441013.1:c.76C>T, NP_001745.2:p.Arg38Cys, NP_001001890.1:p.Arg11Cys, NP_001116079.1:p.Arg11Cys, XP_005261126.1:p.Arg38Cys, XP_005261125.1:p.Arg26Cys, XP_011528068.1:p.Arg38Cys, XP_011528069.1:p.Arg25Cys, XP_011528070.1:p.Arg25Cys, XP_011528072.1:p.Arg38Cys, XP_047296963.1:p.Arg38Cys, XP_047296965.1:p.Arg25Cys, XP_047296966.1:p.Arg25Cys, XP_047296967.1:p.Arg38Cys, XP_047296970.1:p.Arg25Cys, XP_047296968.1:p.Arg38Cys, XP_047296971.1:p.Arg25Cys, XP_047296969.1:p.Arg26Cys

                                16.

                                rs1459260782 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  21:34792306 (GRCh38)
                                  21:36164603 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:34792305:C:G,NC_000021.9:34792305:C:T
                                  Gene:
                                  RUNX1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Clinical significance:
                                  uncertain-significance,likely-benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.00006/1 (TOMMO)
                                  HGVS:
                                  NC_000021.9:g.34792306C>G, NC_000021.9:g.34792306C>T, NC_000021.8:g.36164603C>G, NC_000021.8:g.36164603C>T, NG_011402.2:g.1197406G>C, NG_011402.2:g.1197406G>A, NM_001754.5:c.1272G>C, NM_001754.5:c.1272G>A, NM_001754.4:c.1272G>C, NM_001754.4:c.1272G>A, NM_001001890.3:c.1191G>C, NM_001001890.3:c.1191G>A, NM_001001890.2:c.1191G>C, NM_001001890.2:c.1191G>A, XM_005261069.5:c.1080G>C, XM_005261069.5:c.1080G>A, XM_005261069.4:c.1080G>C, XM_005261069.4:c.1080G>A, XM_005261069.3:c.1080G>C, XM_005261069.3:c.1080G>A, XM_005261069.2:c.1080G>C, XM_005261069.2:c.1080G>A, XM_005261069.1:c.1080G>C, XM_005261069.1:c.1080G>A, XM_005261068.4:c.1236G>C, XM_005261068.4:c.1236G>A, XM_005261068.3:c.1236G>C, XM_005261068.3:c.1236G>A, XM_005261068.2:c.1236G>C, XM_005261068.2:c.1236G>A, XM_005261068.1:c.1236G>C, XM_005261068.1:c.1236G>A, XM_011529766.3:c.1272G>C, XM_011529766.3:c.1272G>A, XM_011529766.2:c.1272G>C, XM_011529766.2:c.1272G>A, XM_011529766.1:c.1272G>C, XM_011529766.1:c.1272G>A, XM_011529767.3:c.1233G>C, XM_011529767.3:c.1233G>A, XM_011529767.2:c.1233G>C, XM_011529767.2:c.1233G>A, XM_011529767.1:c.1233G>C, XM_011529767.1:c.1233G>A, XM_011529768.3:c.1041G>C, XM_011529768.3:c.1041G>A, XM_011529768.2:c.1041G>C, XM_011529768.2:c.1041G>A, XM_011529768.1:c.1041G>C, XM_011529768.1:c.1041G>A, XM_047441007.1:c.1272G>C, XM_047441007.1:c.1272G>A, XM_047441009.1:c.1233G>C, XM_047441009.1:c.1233G>A, XM_047441010.1:c.1233G>C, XM_047441010.1:c.1233G>A, XM_047441011.1:c.1080G>C, XM_047441011.1:c.1080G>A, XM_047441014.1:c.1041G>C, XM_047441014.1:c.1041G>A, XM_047441012.1:c.1080G>C, XM_047441012.1:c.1080G>A, XM_047441015.1:c.1041G>C, XM_047441015.1:c.1041G>A, XM_047441013.1:c.1044G>C, XM_047441013.1:c.1044G>A

                                  17.

                                  rs1458985970 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    21:34880675 (GRCh38)
                                    21:36252972 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:34880674:G:A,NC_000021.9:34880674:G:C,NC_000021.9:34880674:G:T
                                    Gene:
                                    RUNX1 (Varview), LOC112267915 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000021.9:g.34880675G>A, NC_000021.9:g.34880675G>C, NC_000021.9:g.34880675G>T, NC_000021.8:g.36252972G>A, NC_000021.8:g.36252972G>C, NC_000021.8:g.36252972G>T, NG_011402.2:g.1109037C>T, NG_011402.2:g.1109037C>G, NG_011402.2:g.1109037C>A, NM_001754.5:c.390C>T, NM_001754.5:c.390C>G, NM_001754.5:c.390C>A, NM_001754.4:c.390C>T, NM_001754.4:c.390C>G, NM_001754.4:c.390C>A, NM_001001890.3:c.309C>T, NM_001001890.3:c.309C>G, NM_001001890.3:c.309C>A, NM_001001890.2:c.309C>T, NM_001001890.2:c.309C>G, NM_001001890.2:c.309C>A, NM_001122607.2:c.309C>T, NM_001122607.2:c.309C>G, NM_001122607.2:c.309C>A, NM_001122607.1:c.309C>T, NM_001122607.1:c.309C>G, NM_001122607.1:c.309C>A, XM_005261069.5:c.390C>T, XM_005261069.5:c.390C>G, XM_005261069.5:c.390C>A, XM_005261069.4:c.390C>T, XM_005261069.4:c.390C>G, XM_005261069.4:c.390C>A, XM_005261069.3:c.390C>T, XM_005261069.3:c.390C>G, XM_005261069.3:c.390C>A, XM_005261069.2:c.390C>T, XM_005261069.2:c.390C>G, XM_005261069.2:c.390C>A, XM_005261069.1:c.390C>T, XM_005261069.1:c.390C>G, XM_005261069.1:c.390C>A, XM_005261068.4:c.354C>T, XM_005261068.4:c.354C>G, XM_005261068.4:c.354C>A, XM_005261068.3:c.354C>T, XM_005261068.3:c.354C>G, XM_005261068.3:c.354C>A, XM_005261068.2:c.354C>T, XM_005261068.2:c.354C>G, XM_005261068.2:c.354C>A, XM_005261068.1:c.354C>T, XM_005261068.1:c.354C>G, XM_005261068.1:c.354C>A, XM_011529766.3:c.390C>T, XM_011529766.3:c.390C>G, XM_011529766.3:c.390C>A, XM_011529766.2:c.390C>T, XM_011529766.2:c.390C>G, XM_011529766.2:c.390C>A, XM_011529766.1:c.390C>T, XM_011529766.1:c.390C>G, XM_011529766.1:c.390C>A, XM_011529767.3:c.351C>T, XM_011529767.3:c.351C>G, XM_011529767.3:c.351C>A, XM_011529767.2:c.351C>T, XM_011529767.2:c.351C>G, XM_011529767.2:c.351C>A, XM_011529767.1:c.351C>T, XM_011529767.1:c.351C>G, XM_011529767.1:c.351C>A, XM_011529768.3:c.351C>T, XM_011529768.3:c.351C>G, XM_011529768.3:c.351C>A, XM_011529768.2:c.351C>T, XM_011529768.2:c.351C>G, XM_011529768.2:c.351C>A, XM_011529768.1:c.351C>T, XM_011529768.1:c.351C>G, XM_011529768.1:c.351C>A, XM_011529770.3:c.390C>T, XM_011529770.3:c.390C>G, XM_011529770.3:c.390C>A, XM_011529770.2:c.390C>T, XM_011529770.2:c.390C>G, XM_011529770.2:c.390C>A, XM_011529770.1:c.390C>T, XM_011529770.1:c.390C>G, XM_011529770.1:c.390C>A, XR_007067853.1:n.14443G>A, XR_007067853.1:n.14443G>C, XR_007067853.1:n.14443G>T, XM_047441007.1:c.390C>T, XM_047441007.1:c.390C>G, XM_047441007.1:c.390C>A, XM_047441009.1:c.351C>T, XM_047441009.1:c.351C>G, XM_047441009.1:c.351C>A, XM_047441010.1:c.351C>T, XM_047441010.1:c.351C>G, XM_047441010.1:c.351C>A, XM_047441011.1:c.390C>T, XM_047441011.1:c.390C>G, XM_047441011.1:c.390C>A, XM_047441014.1:c.351C>T, XM_047441014.1:c.351C>G, XM_047441014.1:c.351C>A, XM_047441012.1:c.390C>T, XM_047441012.1:c.390C>G, XM_047441012.1:c.390C>A, XM_047441015.1:c.351C>T, XM_047441015.1:c.351C>G, XM_047441015.1:c.351C>A, XM_047441013.1:c.354C>T, XM_047441013.1:c.354C>G, XM_047441013.1:c.354C>A

                                    18.

                                    rs1457932375 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      21:34792469 (GRCh38)
                                      21:36164766 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:34792468:G:A,NC_000021.9:34792468:G:C
                                      Gene:
                                      RUNX1 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000021.9:g.34792469G>A, NC_000021.9:g.34792469G>C, NC_000021.8:g.36164766G>A, NC_000021.8:g.36164766G>C, NG_011402.2:g.1197243C>T, NG_011402.2:g.1197243C>G, NM_001754.5:c.1109C>T, NM_001754.5:c.1109C>G, NM_001754.4:c.1109C>T, NM_001754.4:c.1109C>G, NM_001001890.3:c.1028C>T, NM_001001890.3:c.1028C>G, NM_001001890.2:c.1028C>T, NM_001001890.2:c.1028C>G, XM_005261069.5:c.917C>T, XM_005261069.5:c.917C>G, XM_005261069.4:c.917C>T, XM_005261069.4:c.917C>G, XM_005261069.3:c.917C>T, XM_005261069.3:c.917C>G, XM_005261069.2:c.917C>T, XM_005261069.2:c.917C>G, XM_005261069.1:c.917C>T, XM_005261069.1:c.917C>G, XM_005261068.4:c.1073C>T, XM_005261068.4:c.1073C>G, XM_005261068.3:c.1073C>T, XM_005261068.3:c.1073C>G, XM_005261068.2:c.1073C>T, XM_005261068.2:c.1073C>G, XM_005261068.1:c.1073C>T, XM_005261068.1:c.1073C>G, XM_011529766.3:c.1109C>T, XM_011529766.3:c.1109C>G, XM_011529766.2:c.1109C>T, XM_011529766.2:c.1109C>G, XM_011529766.1:c.1109C>T, XM_011529766.1:c.1109C>G, XM_011529767.3:c.1070C>T, XM_011529767.3:c.1070C>G, XM_011529767.2:c.1070C>T, XM_011529767.2:c.1070C>G, XM_011529767.1:c.1070C>T, XM_011529767.1:c.1070C>G, XM_011529768.3:c.878C>T, XM_011529768.3:c.878C>G, XM_011529768.2:c.878C>T, XM_011529768.2:c.878C>G, XM_011529768.1:c.878C>T, XM_011529768.1:c.878C>G, XM_047441007.1:c.1109C>T, XM_047441007.1:c.1109C>G, XM_047441009.1:c.1070C>T, XM_047441009.1:c.1070C>G, XM_047441010.1:c.1070C>T, XM_047441010.1:c.1070C>G, XM_047441011.1:c.917C>T, XM_047441011.1:c.917C>G, XM_047441014.1:c.878C>T, XM_047441014.1:c.878C>G, XM_047441012.1:c.917C>T, XM_047441012.1:c.917C>G, XM_047441015.1:c.878C>T, XM_047441015.1:c.878C>G, XM_047441013.1:c.881C>T, XM_047441013.1:c.881C>G, NP_001745.2:p.Ala370Val, NP_001745.2:p.Ala370Gly, NP_001001890.1:p.Ala343Val, NP_001001890.1:p.Ala343Gly, XP_005261126.1:p.Ala306Val, XP_005261126.1:p.Ala306Gly, XP_005261125.1:p.Ala358Val, XP_005261125.1:p.Ala358Gly, XP_011528068.1:p.Ala370Val, XP_011528068.1:p.Ala370Gly, XP_011528069.1:p.Ala357Val, XP_011528069.1:p.Ala357Gly, XP_011528070.1:p.Ala293Val, XP_011528070.1:p.Ala293Gly, XP_047296963.1:p.Ala370Val, XP_047296963.1:p.Ala370Gly, XP_047296965.1:p.Ala357Val, XP_047296965.1:p.Ala357Gly, XP_047296966.1:p.Ala357Val, XP_047296966.1:p.Ala357Gly, XP_047296967.1:p.Ala306Val, XP_047296967.1:p.Ala306Gly, XP_047296970.1:p.Ala293Val, XP_047296970.1:p.Ala293Gly, XP_047296968.1:p.Ala306Val, XP_047296968.1:p.Ala306Gly, XP_047296971.1:p.Ala293Val, XP_047296971.1:p.Ala293Gly, XP_047296969.1:p.Ala294Val, XP_047296969.1:p.Ala294Gly

                                      19.

                                      rs1457702382 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        21:34792222 (GRCh38)
                                        21:36164519 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:34792221:C:G
                                        Gene:
                                        RUNX1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Clinical significance:
                                        likely-benign
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000007/1 (GnomAD_exomes)
                                        G=0.000688/2 (KOREAN)
                                        HGVS:
                                        NC_000021.9:g.34792222C>G, NC_000021.8:g.36164519C>G, NG_011402.2:g.1197490G>C, NM_001754.5:c.1356G>C, NM_001754.4:c.1356G>C, NM_001001890.3:c.1275G>C, NM_001001890.2:c.1275G>C, XM_005261069.5:c.1164G>C, XM_005261069.4:c.1164G>C, XM_005261069.3:c.1164G>C, XM_005261069.2:c.1164G>C, XM_005261069.1:c.1164G>C, XM_005261068.4:c.1320G>C, XM_005261068.3:c.1320G>C, XM_005261068.2:c.1320G>C, XM_005261068.1:c.1320G>C, XM_011529766.3:c.1356G>C, XM_011529766.2:c.1356G>C, XM_011529766.1:c.1356G>C, XM_011529767.3:c.1317G>C, XM_011529767.2:c.1317G>C, XM_011529767.1:c.1317G>C, XM_011529768.3:c.1125G>C, XM_011529768.2:c.1125G>C, XM_011529768.1:c.1125G>C, XM_047441007.1:c.1356G>C, XM_047441009.1:c.1317G>C, XM_047441010.1:c.1317G>C, XM_047441011.1:c.1164G>C, XM_047441014.1:c.1125G>C, XM_047441012.1:c.1164G>C, XM_047441015.1:c.1125G>C, XM_047441013.1:c.1128G>C

                                        20.

                                        rs1457506678 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          21:34886994 (GRCh38)
                                          21:36259291 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:34886993:A:C,NC_000021.9:34886993:A:G
                                          Gene:
                                          RUNX1 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000021.9:g.34886994A>C, NC_000021.9:g.34886994A>G, NC_000021.8:g.36259291A>C, NC_000021.8:g.36259291A>G, NG_011402.2:g.1102718T>G, NG_011402.2:g.1102718T>C, NM_001754.5:c.200T>G, NM_001754.5:c.200T>C, NM_001754.4:c.200T>G, NM_001754.4:c.200T>C, NM_001001890.3:c.119T>G, NM_001001890.3:c.119T>C, NM_001001890.2:c.119T>G, NM_001001890.2:c.119T>C, NM_001122607.2:c.119T>G, NM_001122607.2:c.119T>C, NM_001122607.1:c.119T>G, NM_001122607.1:c.119T>C, XM_005261069.5:c.200T>G, XM_005261069.5:c.200T>C, XM_005261069.4:c.200T>G, XM_005261069.4:c.200T>C, XM_005261069.3:c.200T>G, XM_005261069.3:c.200T>C, XM_005261069.2:c.200T>G, XM_005261069.2:c.200T>C, XM_005261069.1:c.200T>G, XM_005261069.1:c.200T>C, XM_005261068.4:c.164T>G, XM_005261068.4:c.164T>C, XM_005261068.3:c.164T>G, XM_005261068.3:c.164T>C, XM_005261068.2:c.164T>G, XM_005261068.2:c.164T>C, XM_005261068.1:c.164T>G, XM_005261068.1:c.164T>C, XM_011529766.3:c.200T>G, XM_011529766.3:c.200T>C, XM_011529766.2:c.200T>G, XM_011529766.2:c.200T>C, XM_011529766.1:c.200T>G, XM_011529766.1:c.200T>C, XM_011529767.3:c.161T>G, XM_011529767.3:c.161T>C, XM_011529767.2:c.161T>G, XM_011529767.2:c.161T>C, XM_011529767.1:c.161T>G, XM_011529767.1:c.161T>C, XM_011529768.3:c.161T>G, XM_011529768.3:c.161T>C, XM_011529768.2:c.161T>G, XM_011529768.2:c.161T>C, XM_011529768.1:c.161T>G, XM_011529768.1:c.161T>C, XM_011529770.3:c.200T>G, XM_011529770.3:c.200T>C, XM_011529770.2:c.200T>G, XM_011529770.2:c.200T>C, XM_011529770.1:c.200T>G, XM_011529770.1:c.200T>C, XM_047441007.1:c.200T>G, XM_047441007.1:c.200T>C, XM_047441009.1:c.161T>G, XM_047441009.1:c.161T>C, XM_047441010.1:c.161T>G, XM_047441010.1:c.161T>C, XM_047441011.1:c.200T>G, XM_047441011.1:c.200T>C, XM_047441014.1:c.161T>G, XM_047441014.1:c.161T>C, XM_047441012.1:c.200T>G, XM_047441012.1:c.200T>C, XM_047441015.1:c.161T>G, XM_047441015.1:c.161T>C, XM_047441013.1:c.164T>G, XM_047441013.1:c.164T>C, NP_001745.2:p.Leu67Arg, NP_001745.2:p.Leu67Pro, NP_001001890.1:p.Leu40Arg, NP_001001890.1:p.Leu40Pro, NP_001116079.1:p.Leu40Arg, NP_001116079.1:p.Leu40Pro, XP_005261126.1:p.Leu67Arg, XP_005261126.1:p.Leu67Pro, XP_005261125.1:p.Leu55Arg, XP_005261125.1:p.Leu55Pro, XP_011528068.1:p.Leu67Arg, XP_011528068.1:p.Leu67Pro, XP_011528069.1:p.Leu54Arg, XP_011528069.1:p.Leu54Pro, XP_011528070.1:p.Leu54Arg, XP_011528070.1:p.Leu54Pro, XP_011528072.1:p.Leu67Arg, XP_011528072.1:p.Leu67Pro, XP_047296963.1:p.Leu67Arg, XP_047296963.1:p.Leu67Pro, XP_047296965.1:p.Leu54Arg, XP_047296965.1:p.Leu54Pro, XP_047296966.1:p.Leu54Arg, XP_047296966.1:p.Leu54Pro, XP_047296967.1:p.Leu67Arg, XP_047296967.1:p.Leu67Pro, XP_047296970.1:p.Leu54Arg, XP_047296970.1:p.Leu54Pro, XP_047296968.1:p.Leu67Arg, XP_047296968.1:p.Leu67Pro, XP_047296971.1:p.Leu54Arg, XP_047296971.1:p.Leu54Pro, XP_047296969.1:p.Leu55Arg, XP_047296969.1:p.Leu55Pro

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