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Items: 1 to 20 of 418

1.

rs1490806561 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:48550707 (GRCh38)
    17:46628069 (GRCh37)
    Canonical SPDI:
    NC_000017.11:48550706:T:C
    Gene:
    HOXB3 (Varview), HOXB-AS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000005/1 (GnomAD_exomes)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (TOPMED)
    HGVS:
    NC_000017.11:g.48550707T>C, NC_000017.10:g.46628069T>C, NM_002146.4:c.923A>G, XM_011524708.4:c.527A>G, XM_011524708.3:c.527A>G, XM_011524708.2:c.1094A>G, XM_011524708.1:c.1094A>G, XM_011524726.3:c.704A>G, XM_011524726.2:c.704A>G, XM_011524726.1:c.704A>G, XM_017024560.2:c.1364A>G, XM_017024560.1:c.1364A>G, XM_024450737.2:c.923A>G, XM_024450737.1:c.923A>G, NM_001330322.2:c.704A>G, NM_001330322.1:c.704A>G, XM_047435901.1:c.1364A>G, XM_047435900.1:c.1364A>G, XM_047435899.1:c.1364A>G, XM_047435902.1:c.923A>G, XM_047435903.1:c.923A>G, XM_047435904.1:c.920A>G, XM_047435906.1:c.527A>G, XM_047435907.1:c.704A>G, NM_001384749.1:c.923A>G, NM_001384747.1:c.923A>G, NM_001384750.1:c.704A>G, NM_001330323.1:c.527A>G, NP_002137.4:p.Tyr308Cys, XP_011523010.2:p.Tyr176Cys, XP_011523028.1:p.Tyr235Cys, XP_016880049.1:p.Tyr455Cys, XP_024306505.1:p.Tyr308Cys, NP_001317251.1:p.Tyr235Cys, XP_047291857.1:p.Tyr455Cys, XP_047291856.1:p.Tyr455Cys, XP_047291855.1:p.Tyr455Cys, XP_047291858.1:p.Tyr308Cys, XP_047291859.1:p.Tyr308Cys, XP_047291860.1:p.Tyr307Cys, XP_047291862.1:p.Tyr176Cys, XP_047291863.1:p.Tyr235Cys, NP_001371678.1:p.Tyr308Cys, NP_001371676.1:p.Tyr308Cys, NP_001371679.1:p.Tyr235Cys, NP_001317252.1:p.Tyr176Cys

    2.

    rs1490315086 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:48550515 (GRCh38)
      17:46627877 (GRCh37)
      Canonical SPDI:
      NC_000017.11:48550514:C:T
      Gene:
      HOXB3 (Varview), HOXB-AS1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000005/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000017.11:g.48550515C>T, NC_000017.10:g.46627877C>T, NM_002146.4:c.1115G>A, XM_011524708.4:c.719G>A, XM_011524708.3:c.719G>A, XM_011524708.2:c.1286G>A, XM_011524708.1:c.1286G>A, XM_011524726.3:c.896G>A, XM_011524726.2:c.896G>A, XM_011524726.1:c.896G>A, XM_017024560.2:c.1556G>A, XM_017024560.1:c.1556G>A, XM_024450737.2:c.1115G>A, XM_024450737.1:c.1115G>A, NM_001330322.2:c.896G>A, NM_001330322.1:c.896G>A, XM_047435901.1:c.1556G>A, XM_047435900.1:c.1556G>A, XM_047435899.1:c.1556G>A, XM_047435902.1:c.1115G>A, XM_047435903.1:c.1115G>A, XM_047435904.1:c.1112G>A, XM_047435906.1:c.719G>A, XM_047435907.1:c.896G>A, NM_001384749.1:c.1115G>A, NM_001384747.1:c.1115G>A, NM_001384750.1:c.896G>A, NM_001330323.1:c.719G>A, NP_002137.4:p.Gly372Asp, XP_011523010.2:p.Gly240Asp, XP_011523028.1:p.Gly299Asp, XP_016880049.1:p.Gly519Asp, XP_024306505.1:p.Gly372Asp, NP_001317251.1:p.Gly299Asp, XP_047291857.1:p.Gly519Asp, XP_047291856.1:p.Gly519Asp, XP_047291855.1:p.Gly519Asp, XP_047291858.1:p.Gly372Asp, XP_047291859.1:p.Gly372Asp, XP_047291860.1:p.Gly371Asp, XP_047291862.1:p.Gly240Asp, XP_047291863.1:p.Gly299Asp, NP_001371678.1:p.Gly372Asp, NP_001371676.1:p.Gly372Asp, NP_001371679.1:p.Gly299Asp, NP_001317252.1:p.Gly240Asp

      3.

      rs1490251788 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:48550518 (GRCh38)
        17:46627880 (GRCh37)
        Canonical SPDI:
        NC_000017.11:48550517:T:C
        Gene:
        HOXB3 (Varview), HOXB-AS1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_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_000017.11:g.48550518T>C, NC_000017.10:g.46627880T>C, NM_002146.4:c.1112A>G, XM_011524708.4:c.716A>G, XM_011524708.3:c.716A>G, XM_011524708.2:c.1283A>G, XM_011524708.1:c.1283A>G, XM_011524726.3:c.893A>G, XM_011524726.2:c.893A>G, XM_011524726.1:c.893A>G, XM_017024560.2:c.1553A>G, XM_017024560.1:c.1553A>G, XM_024450737.2:c.1112A>G, XM_024450737.1:c.1112A>G, NM_001330322.2:c.893A>G, NM_001330322.1:c.893A>G, XM_047435901.1:c.1553A>G, XM_047435900.1:c.1553A>G, XM_047435899.1:c.1553A>G, XM_047435902.1:c.1112A>G, XM_047435903.1:c.1112A>G, XM_047435904.1:c.1109A>G, XM_047435906.1:c.716A>G, XM_047435907.1:c.893A>G, NM_001384749.1:c.1112A>G, NM_001384747.1:c.1112A>G, NM_001384750.1:c.893A>G, NM_001330323.1:c.716A>G, NP_002137.4:p.Tyr371Cys, XP_011523010.2:p.Tyr239Cys, XP_011523028.1:p.Tyr298Cys, XP_016880049.1:p.Tyr518Cys, XP_024306505.1:p.Tyr371Cys, NP_001317251.1:p.Tyr298Cys, XP_047291857.1:p.Tyr518Cys, XP_047291856.1:p.Tyr518Cys, XP_047291855.1:p.Tyr518Cys, XP_047291858.1:p.Tyr371Cys, XP_047291859.1:p.Tyr371Cys, XP_047291860.1:p.Tyr370Cys, XP_047291862.1:p.Tyr239Cys, XP_047291863.1:p.Tyr298Cys, NP_001371678.1:p.Tyr371Cys, NP_001371676.1:p.Tyr371Cys, NP_001371679.1:p.Tyr298Cys, NP_001317252.1:p.Tyr239Cys

        4.

        rs1487250479 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          17:48552072 (GRCh38)
          17:46629434 (GRCh37)
          Canonical SPDI:
          NC_000017.11:48552071:C:G
          Gene:
          HOXB3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.48552072C>G, NC_000017.10:g.46629434C>G, NM_002146.4:c.403G>C, XM_011524708.4:c.7G>C, XM_011524708.3:c.7G>C, XM_011524708.2:c.574G>C, XM_011524708.1:c.574G>C, XM_011524726.3:c.184G>C, XM_011524726.2:c.184G>C, XM_011524726.1:c.184G>C, XM_017024560.2:c.844G>C, XM_017024560.1:c.844G>C, XM_024450737.2:c.403G>C, XM_024450737.1:c.403G>C, NM_001330322.2:c.184G>C, NM_001330322.1:c.184G>C, XM_047435901.1:c.844G>C, XM_047435900.1:c.844G>C, XM_047435899.1:c.844G>C, XM_047435902.1:c.403G>C, XM_047435903.1:c.403G>C, XM_047435904.1:c.403G>C, XM_047435906.1:c.7G>C, XM_047435907.1:c.184G>C, NM_001384749.1:c.403G>C, NM_001384747.1:c.403G>C, NM_001384750.1:c.184G>C, NM_001330323.1:c.7G>C, NP_002137.4:p.Glu135Gln, XP_011523010.2:p.Glu3Gln, XP_011523028.1:p.Glu62Gln, XP_016880049.1:p.Glu282Gln, XP_024306505.1:p.Glu135Gln, NP_001317251.1:p.Glu62Gln, XP_047291857.1:p.Glu282Gln, XP_047291856.1:p.Glu282Gln, XP_047291855.1:p.Glu282Gln, XP_047291858.1:p.Glu135Gln, XP_047291859.1:p.Glu135Gln, XP_047291860.1:p.Glu135Gln, XP_047291862.1:p.Glu3Gln, XP_047291863.1:p.Glu62Gln, NP_001371678.1:p.Glu135Gln, NP_001371676.1:p.Glu135Gln, NP_001371679.1:p.Glu62Gln, NP_001317252.1:p.Glu3Gln

          5.

          rs1486980783 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:48550411 (GRCh38)
            17:46627773 (GRCh37)
            Canonical SPDI:
            NC_000017.11:48550410:A:G
            Gene:
            HOXB3 (Varview), HOXB-AS1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000017.11:g.48550411A>G, NC_000017.10:g.46627773A>G, NM_002146.4:c.1219T>C, XM_011524708.4:c.823T>C, XM_011524708.3:c.823T>C, XM_011524708.2:c.1390T>C, XM_011524708.1:c.1390T>C, XM_011524726.3:c.1000T>C, XM_011524726.2:c.1000T>C, XM_011524726.1:c.1000T>C, XM_017024560.2:c.1660T>C, XM_017024560.1:c.1660T>C, XM_024450737.2:c.1219T>C, XM_024450737.1:c.1219T>C, NM_001330322.2:c.1000T>C, NM_001330322.1:c.1000T>C, XM_047435901.1:c.1660T>C, XM_047435900.1:c.1660T>C, XM_047435899.1:c.1660T>C, XM_047435902.1:c.1219T>C, XM_047435903.1:c.1219T>C, XM_047435904.1:c.1216T>C, XM_047435906.1:c.823T>C, XM_047435907.1:c.1000T>C, NM_001384749.1:c.1219T>C, NM_001384747.1:c.1219T>C, NM_001384750.1:c.1000T>C, NM_001330323.1:c.823T>C, NP_002137.4:p.Tyr407His, XP_011523010.2:p.Tyr275His, XP_011523028.1:p.Tyr334His, XP_016880049.1:p.Tyr554His, XP_024306505.1:p.Tyr407His, NP_001317251.1:p.Tyr334His, XP_047291857.1:p.Tyr554His, XP_047291856.1:p.Tyr554His, XP_047291855.1:p.Tyr554His, XP_047291858.1:p.Tyr407His, XP_047291859.1:p.Tyr407His, XP_047291860.1:p.Tyr406His, XP_047291862.1:p.Tyr275His, XP_047291863.1:p.Tyr334His, NP_001371678.1:p.Tyr407His, NP_001371676.1:p.Tyr407His, NP_001371679.1:p.Tyr334His, NP_001317252.1:p.Tyr275His

            6.

            rs1481912552 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:48550589 (GRCh38)
              17:46627951 (GRCh37)
              Canonical SPDI:
              NC_000017.11:48550588:C:T
              Gene:
              HOXB3 (Varview), HOXB-AS1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:

              7.

              rs1480275731 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:48550337 (GRCh38)
                17:46627699 (GRCh37)
                Canonical SPDI:
                NC_000017.11:48550336:C:T
                Gene:
                HOXB3 (Varview), HOXB-AS1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000008/2 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1476795398 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:48551014 (GRCh38)
                  17:46628376 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:48551013:C:T
                  Gene:
                  HOXB3 (Varview), HOXB-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000017.11:g.48551014C>T, NC_000017.10:g.46628376C>T, NM_002146.4:c.616G>A, XM_011524708.4:c.220G>A, XM_011524708.3:c.220G>A, XM_011524708.2:c.787G>A, XM_011524708.1:c.787G>A, XM_011524726.3:c.397G>A, XM_011524726.2:c.397G>A, XM_011524726.1:c.397G>A, XM_017024560.2:c.1057G>A, XM_017024560.1:c.1057G>A, XM_024450737.2:c.616G>A, XM_024450737.1:c.616G>A, NM_001330322.2:c.397G>A, NM_001330322.1:c.397G>A, XM_047435901.1:c.1057G>A, XM_047435900.1:c.1057G>A, XM_047435899.1:c.1057G>A, XM_047435902.1:c.616G>A, XM_047435903.1:c.616G>A, XM_047435904.1:c.613G>A, XM_047435906.1:c.220G>A, XM_047435907.1:c.397G>A, NM_001384749.1:c.616G>A, NM_001384747.1:c.616G>A, NM_001384750.1:c.397G>A, NM_001330323.1:c.220G>A, NP_002137.4:p.Glu206Lys, XP_011523010.2:p.Glu74Lys, XP_011523028.1:p.Glu133Lys, XP_016880049.1:p.Glu353Lys, XP_024306505.1:p.Glu206Lys, NP_001317251.1:p.Glu133Lys, XP_047291857.1:p.Glu353Lys, XP_047291856.1:p.Glu353Lys, XP_047291855.1:p.Glu353Lys, XP_047291858.1:p.Glu206Lys, XP_047291859.1:p.Glu206Lys, XP_047291860.1:p.Glu205Lys, XP_047291862.1:p.Glu74Lys, XP_047291863.1:p.Glu133Lys, NP_001371678.1:p.Glu206Lys, NP_001371676.1:p.Glu206Lys, NP_001371679.1:p.Glu133Lys, NP_001317252.1:p.Glu74Lys

                  9.

                  rs1471029879 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    17:48550619 (GRCh38)
                    17:46627981 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:48550618:G:A,NC_000017.11:48550618:G:C
                    Gene:
                    HOXB3 (Varview), HOXB-AS1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.48550619G>A, NC_000017.11:g.48550619G>C, NC_000017.10:g.46627981G>A, NC_000017.10:g.46627981G>C, NM_002146.4:c.1011C>T, NM_002146.4:c.1011C>G, XM_011524708.4:c.615C>T, XM_011524708.4:c.615C>G, XM_011524708.3:c.615C>T, XM_011524708.3:c.615C>G, XM_011524708.2:c.1182C>T, XM_011524708.2:c.1182C>G, XM_011524708.1:c.1182C>T, XM_011524708.1:c.1182C>G, XM_011524726.3:c.792C>T, XM_011524726.3:c.792C>G, XM_011524726.2:c.792C>T, XM_011524726.2:c.792C>G, XM_011524726.1:c.792C>T, XM_011524726.1:c.792C>G, XM_017024560.2:c.1452C>T, XM_017024560.2:c.1452C>G, XM_017024560.1:c.1452C>T, XM_017024560.1:c.1452C>G, XM_024450737.2:c.1011C>T, XM_024450737.2:c.1011C>G, XM_024450737.1:c.1011C>T, XM_024450737.1:c.1011C>G, NM_001330322.2:c.792C>T, NM_001330322.2:c.792C>G, NM_001330322.1:c.792C>T, NM_001330322.1:c.792C>G, XM_047435901.1:c.1452C>T, XM_047435901.1:c.1452C>G, XM_047435900.1:c.1452C>T, XM_047435900.1:c.1452C>G, XM_047435899.1:c.1452C>T, XM_047435899.1:c.1452C>G, XM_047435902.1:c.1011C>T, XM_047435902.1:c.1011C>G, XM_047435903.1:c.1011C>T, XM_047435903.1:c.1011C>G, XM_047435904.1:c.1008C>T, XM_047435904.1:c.1008C>G, XM_047435906.1:c.615C>T, XM_047435906.1:c.615C>G, XM_047435907.1:c.792C>T, XM_047435907.1:c.792C>G, NM_001384749.1:c.1011C>T, NM_001384749.1:c.1011C>G, NM_001384747.1:c.1011C>T, NM_001384747.1:c.1011C>G, NM_001384750.1:c.792C>T, NM_001384750.1:c.792C>G, NM_001330323.1:c.615C>T, NM_001330323.1:c.615C>G, NP_002137.4:p.Asn337Lys, XP_011523010.2:p.Asn205Lys, XP_011523028.1:p.Asn264Lys, XP_016880049.1:p.Asn484Lys, XP_024306505.1:p.Asn337Lys, NP_001317251.1:p.Asn264Lys, XP_047291857.1:p.Asn484Lys, XP_047291856.1:p.Asn484Lys, XP_047291855.1:p.Asn484Lys, XP_047291858.1:p.Asn337Lys, XP_047291859.1:p.Asn337Lys, XP_047291860.1:p.Asn336Lys, XP_047291862.1:p.Asn205Lys, XP_047291863.1:p.Asn264Lys, NP_001371678.1:p.Asn337Lys, NP_001371676.1:p.Asn337Lys, NP_001371679.1:p.Asn264Lys, NP_001317252.1:p.Asn205Lys

                    10.

                    rs1470917092 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C,T [Show Flanks]
                      Chromosome:
                      17:48550524 (GRCh38)
                      17:46627886 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:48550523:G:A,NC_000017.11:48550523:G:C,NC_000017.11:48550523:G:T
                      Gene:
                      HOXB3 (Varview), HOXB-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      C=0.00001/2 (GnomAD_exomes)
                      T=0.000011/3 (TOPMED)
                      T=0.00005/7 (GnomAD)
                      HGVS:
                      NC_000017.11:g.48550524G>A, NC_000017.11:g.48550524G>C, NC_000017.11:g.48550524G>T, NC_000017.10:g.46627886G>A, NC_000017.10:g.46627886G>C, NC_000017.10:g.46627886G>T, NM_002146.4:c.1106C>T, NM_002146.4:c.1106C>G, NM_002146.4:c.1106C>A, XM_011524708.4:c.710C>T, XM_011524708.4:c.710C>G, XM_011524708.4:c.710C>A, XM_011524708.3:c.710C>T, XM_011524708.3:c.710C>G, XM_011524708.3:c.710C>A, XM_011524708.2:c.1277C>T, XM_011524708.2:c.1277C>G, XM_011524708.2:c.1277C>A, XM_011524708.1:c.1277C>T, XM_011524708.1:c.1277C>G, XM_011524708.1:c.1277C>A, XM_011524726.3:c.887C>T, XM_011524726.3:c.887C>G, XM_011524726.3:c.887C>A, XM_011524726.2:c.887C>T, XM_011524726.2:c.887C>G, XM_011524726.2:c.887C>A, XM_011524726.1:c.887C>T, XM_011524726.1:c.887C>G, XM_011524726.1:c.887C>A, XM_017024560.2:c.1547C>T, XM_017024560.2:c.1547C>G, XM_017024560.2:c.1547C>A, XM_017024560.1:c.1547C>T, XM_017024560.1:c.1547C>G, XM_017024560.1:c.1547C>A, XM_024450737.2:c.1106C>T, XM_024450737.2:c.1106C>G, XM_024450737.2:c.1106C>A, XM_024450737.1:c.1106C>T, XM_024450737.1:c.1106C>G, XM_024450737.1:c.1106C>A, NM_001330322.2:c.887C>T, NM_001330322.2:c.887C>G, NM_001330322.2:c.887C>A, NM_001330322.1:c.887C>T, NM_001330322.1:c.887C>G, NM_001330322.1:c.887C>A, XM_047435901.1:c.1547C>T, XM_047435901.1:c.1547C>G, XM_047435901.1:c.1547C>A, XM_047435900.1:c.1547C>T, XM_047435900.1:c.1547C>G, XM_047435900.1:c.1547C>A, XM_047435899.1:c.1547C>T, XM_047435899.1:c.1547C>G, XM_047435899.1:c.1547C>A, XM_047435902.1:c.1106C>T, XM_047435902.1:c.1106C>G, XM_047435902.1:c.1106C>A, XM_047435903.1:c.1106C>T, XM_047435903.1:c.1106C>G, XM_047435903.1:c.1106C>A, XM_047435904.1:c.1103C>T, XM_047435904.1:c.1103C>G, XM_047435904.1:c.1103C>A, XM_047435906.1:c.710C>T, XM_047435906.1:c.710C>G, XM_047435906.1:c.710C>A, XM_047435907.1:c.887C>T, XM_047435907.1:c.887C>G, XM_047435907.1:c.887C>A, NM_001384749.1:c.1106C>T, NM_001384749.1:c.1106C>G, NM_001384749.1:c.1106C>A, NM_001384747.1:c.1106C>T, NM_001384747.1:c.1106C>G, NM_001384747.1:c.1106C>A, NM_001384750.1:c.887C>T, NM_001384750.1:c.887C>G, NM_001384750.1:c.887C>A, NM_001330323.1:c.710C>T, NM_001330323.1:c.710C>G, NM_001330323.1:c.710C>A, NP_002137.4:p.Ser369Phe, NP_002137.4:p.Ser369Cys, NP_002137.4:p.Ser369Tyr, XP_011523010.2:p.Ser237Phe, XP_011523010.2:p.Ser237Cys, XP_011523010.2:p.Ser237Tyr, XP_011523028.1:p.Ser296Phe, XP_011523028.1:p.Ser296Cys, XP_011523028.1:p.Ser296Tyr, XP_016880049.1:p.Ser516Phe, XP_016880049.1:p.Ser516Cys, XP_016880049.1:p.Ser516Tyr, XP_024306505.1:p.Ser369Phe, XP_024306505.1:p.Ser369Cys, XP_024306505.1:p.Ser369Tyr, NP_001317251.1:p.Ser296Phe, NP_001317251.1:p.Ser296Cys, NP_001317251.1:p.Ser296Tyr, XP_047291857.1:p.Ser516Phe, XP_047291857.1:p.Ser516Cys, XP_047291857.1:p.Ser516Tyr, XP_047291856.1:p.Ser516Phe, XP_047291856.1:p.Ser516Cys, XP_047291856.1:p.Ser516Tyr, XP_047291855.1:p.Ser516Phe, XP_047291855.1:p.Ser516Cys, XP_047291855.1:p.Ser516Tyr, XP_047291858.1:p.Ser369Phe, XP_047291858.1:p.Ser369Cys, XP_047291858.1:p.Ser369Tyr, XP_047291859.1:p.Ser369Phe, XP_047291859.1:p.Ser369Cys, XP_047291859.1:p.Ser369Tyr, XP_047291860.1:p.Ser368Phe, XP_047291860.1:p.Ser368Cys, XP_047291860.1:p.Ser368Tyr, XP_047291862.1:p.Ser237Phe, XP_047291862.1:p.Ser237Cys, XP_047291862.1:p.Ser237Tyr, XP_047291863.1:p.Ser296Phe, XP_047291863.1:p.Ser296Cys, XP_047291863.1:p.Ser296Tyr, NP_001371678.1:p.Ser369Phe, NP_001371678.1:p.Ser369Cys, NP_001371678.1:p.Ser369Tyr, NP_001371676.1:p.Ser369Phe, NP_001371676.1:p.Ser369Cys, NP_001371676.1:p.Ser369Tyr, NP_001371679.1:p.Ser296Phe, NP_001371679.1:p.Ser296Cys, NP_001371679.1:p.Ser296Tyr, NP_001317252.1:p.Ser237Phe, NP_001317252.1:p.Ser237Cys, NP_001317252.1:p.Ser237Tyr

                      11.

                      rs1470754278 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        17:48551100 (GRCh38)
                        17:46628462 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:48551099:C:A,NC_000017.11:48551099:C:T
                        Gene:
                        HOXB3 (Varview), HOXB-AS1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000017.11:g.48551100C>A, NC_000017.11:g.48551100C>T, NC_000017.10:g.46628462C>A, NC_000017.10:g.46628462C>T, NM_002146.4:c.530G>T, NM_002146.4:c.530G>A, XM_011524708.4:c.134G>T, XM_011524708.4:c.134G>A, XM_011524708.3:c.134G>T, XM_011524708.3:c.134G>A, XM_011524708.2:c.701G>T, XM_011524708.2:c.701G>A, XM_011524708.1:c.701G>T, XM_011524708.1:c.701G>A, XM_011524726.3:c.311G>T, XM_011524726.3:c.311G>A, XM_011524726.2:c.311G>T, XM_011524726.2:c.311G>A, XM_011524726.1:c.311G>T, XM_011524726.1:c.311G>A, XM_017024560.2:c.971G>T, XM_017024560.2:c.971G>A, XM_017024560.1:c.971G>T, XM_017024560.1:c.971G>A, XM_024450737.2:c.530G>T, XM_024450737.2:c.530G>A, XM_024450737.1:c.530G>T, XM_024450737.1:c.530G>A, NM_001330322.2:c.311G>T, NM_001330322.2:c.311G>A, NM_001330322.1:c.311G>T, NM_001330322.1:c.311G>A, XM_047435901.1:c.971G>T, XM_047435901.1:c.971G>A, XM_047435900.1:c.971G>T, XM_047435900.1:c.971G>A, XM_047435899.1:c.971G>T, XM_047435899.1:c.971G>A, XM_047435902.1:c.530G>T, XM_047435902.1:c.530G>A, XM_047435903.1:c.530G>T, XM_047435903.1:c.530G>A, XM_047435904.1:c.527G>T, XM_047435904.1:c.527G>A, XM_047435906.1:c.134G>T, XM_047435906.1:c.134G>A, XM_047435907.1:c.311G>T, XM_047435907.1:c.311G>A, NM_001384749.1:c.530G>T, NM_001384749.1:c.530G>A, NM_001384747.1:c.530G>T, NM_001384747.1:c.530G>A, NM_001384750.1:c.311G>T, NM_001384750.1:c.311G>A, NM_001330323.1:c.134G>T, NM_001330323.1:c.134G>A, NR_102279.1:n.656C>A, NR_102279.1:n.656C>T, NP_002137.4:p.Gly177Val, NP_002137.4:p.Gly177Glu, XP_011523010.2:p.Gly45Val, XP_011523010.2:p.Gly45Glu, XP_011523028.1:p.Gly104Val, XP_011523028.1:p.Gly104Glu, XP_016880049.1:p.Gly324Val, XP_016880049.1:p.Gly324Glu, XP_024306505.1:p.Gly177Val, XP_024306505.1:p.Gly177Glu, NP_001317251.1:p.Gly104Val, NP_001317251.1:p.Gly104Glu, XP_047291857.1:p.Gly324Val, XP_047291857.1:p.Gly324Glu, XP_047291856.1:p.Gly324Val, XP_047291856.1:p.Gly324Glu, XP_047291855.1:p.Gly324Val, XP_047291855.1:p.Gly324Glu, XP_047291858.1:p.Gly177Val, XP_047291858.1:p.Gly177Glu, XP_047291859.1:p.Gly177Val, XP_047291859.1:p.Gly177Glu, XP_047291860.1:p.Gly176Val, XP_047291860.1:p.Gly176Glu, XP_047291862.1:p.Gly45Val, XP_047291862.1:p.Gly45Glu, XP_047291863.1:p.Gly104Val, XP_047291863.1:p.Gly104Glu, NP_001371678.1:p.Gly177Val, NP_001371678.1:p.Gly177Glu, NP_001371676.1:p.Gly177Val, NP_001371676.1:p.Gly177Glu, NP_001371679.1:p.Gly104Val, NP_001371679.1:p.Gly104Glu, NP_001317252.1:p.Gly45Val, NP_001317252.1:p.Gly45Glu

                        12.

                        rs1467823862 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:48550426 (GRCh38)
                          17:46627788 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:48550425:C:T
                          Gene:
                          HOXB3 (Varview), HOXB-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000017.11:g.48550426C>T, NC_000017.10:g.46627788C>T, NM_002146.4:c.1204G>A, XM_011524708.4:c.808G>A, XM_011524708.3:c.808G>A, XM_011524708.2:c.1375G>A, XM_011524708.1:c.1375G>A, XM_011524726.3:c.985G>A, XM_011524726.2:c.985G>A, XM_011524726.1:c.985G>A, XM_017024560.2:c.1645G>A, XM_017024560.1:c.1645G>A, XM_024450737.2:c.1204G>A, XM_024450737.1:c.1204G>A, NM_001330322.2:c.985G>A, NM_001330322.1:c.985G>A, XM_047435901.1:c.1645G>A, XM_047435900.1:c.1645G>A, XM_047435899.1:c.1645G>A, XM_047435902.1:c.1204G>A, XM_047435903.1:c.1204G>A, XM_047435904.1:c.1201G>A, XM_047435906.1:c.808G>A, XM_047435907.1:c.985G>A, NM_001384749.1:c.1204G>A, NM_001384747.1:c.1204G>A, NM_001384750.1:c.985G>A, NM_001330323.1:c.808G>A, NP_002137.4:p.Glu402Lys, XP_011523010.2:p.Glu270Lys, XP_011523028.1:p.Glu329Lys, XP_016880049.1:p.Glu549Lys, XP_024306505.1:p.Glu402Lys, NP_001317251.1:p.Glu329Lys, XP_047291857.1:p.Glu549Lys, XP_047291856.1:p.Glu549Lys, XP_047291855.1:p.Glu549Lys, XP_047291858.1:p.Glu402Lys, XP_047291859.1:p.Glu402Lys, XP_047291860.1:p.Glu401Lys, XP_047291862.1:p.Glu270Lys, XP_047291863.1:p.Glu329Lys, NP_001371678.1:p.Glu402Lys, NP_001371676.1:p.Glu402Lys, NP_001371679.1:p.Glu329Lys, NP_001317252.1:p.Glu270Lys

                          13.

                          rs1464072719 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            17:48551173 (GRCh38)
                            17:46628535 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:48551172:A:T
                            Gene:
                            HOXB3 (Varview), HOXB-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000017.11:g.48551173A>T, NC_000017.10:g.46628535A>T, NM_002146.4:c.457T>A, XM_011524708.4:c.61T>A, XM_011524708.3:c.61T>A, XM_011524708.2:c.628T>A, XM_011524708.1:c.628T>A, XM_011524726.3:c.238T>A, XM_011524726.2:c.238T>A, XM_011524726.1:c.238T>A, XM_017024560.2:c.898T>A, XM_017024560.1:c.898T>A, XM_024450737.2:c.457T>A, XM_024450737.1:c.457T>A, NM_001330322.2:c.238T>A, NM_001330322.1:c.238T>A, XM_047435901.1:c.898T>A, XM_047435900.1:c.898T>A, XM_047435899.1:c.898T>A, XM_047435902.1:c.457T>A, XM_047435903.1:c.457T>A, XM_047435904.1:c.454T>A, XM_047435906.1:c.61T>A, XM_047435907.1:c.238T>A, NM_001384749.1:c.457T>A, NM_001384747.1:c.457T>A, NM_001384750.1:c.238T>A, NM_001330323.1:c.61T>A, NR_102279.1:n.729A>T, NP_002137.4:p.Cys153Ser, XP_011523010.2:p.Cys21Ser, XP_011523028.1:p.Cys80Ser, XP_016880049.1:p.Cys300Ser, XP_024306505.1:p.Cys153Ser, NP_001317251.1:p.Cys80Ser, XP_047291857.1:p.Cys300Ser, XP_047291856.1:p.Cys300Ser, XP_047291855.1:p.Cys300Ser, XP_047291858.1:p.Cys153Ser, XP_047291859.1:p.Cys153Ser, XP_047291860.1:p.Cys152Ser, XP_047291862.1:p.Cys21Ser, XP_047291863.1:p.Cys80Ser, NP_001371678.1:p.Cys153Ser, NP_001371676.1:p.Cys153Ser, NP_001371679.1:p.Cys80Ser, NP_001317252.1:p.Cys21Ser

                            14.

                            rs1464006754 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              17:48550799 (GRCh38)
                              17:46628161 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:48550798:G:A,NC_000017.11:48550798:G:T
                              Gene:
                              HOXB3 (Varview), HOXB-AS1 (Varview)
                              Functional Consequence:
                              synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.48550799G>A, NC_000017.11:g.48550799G>T, NC_000017.10:g.46628161G>A, NC_000017.10:g.46628161G>T, NM_002146.4:c.831C>T, NM_002146.4:c.831C>A, XM_011524708.4:c.435C>T, XM_011524708.4:c.435C>A, XM_011524708.3:c.435C>T, XM_011524708.3:c.435C>A, XM_011524708.2:c.1002C>T, XM_011524708.2:c.1002C>A, XM_011524708.1:c.1002C>T, XM_011524708.1:c.1002C>A, XM_011524726.3:c.612C>T, XM_011524726.3:c.612C>A, XM_011524726.2:c.612C>T, XM_011524726.2:c.612C>A, XM_011524726.1:c.612C>T, XM_011524726.1:c.612C>A, XM_017024560.2:c.1272C>T, XM_017024560.2:c.1272C>A, XM_017024560.1:c.1272C>T, XM_017024560.1:c.1272C>A, XM_024450737.2:c.831C>T, XM_024450737.2:c.831C>A, XM_024450737.1:c.831C>T, XM_024450737.1:c.831C>A, NM_001330322.2:c.612C>T, NM_001330322.2:c.612C>A, NM_001330322.1:c.612C>T, NM_001330322.1:c.612C>A, XM_047435901.1:c.1272C>T, XM_047435901.1:c.1272C>A, XM_047435900.1:c.1272C>T, XM_047435900.1:c.1272C>A, XM_047435899.1:c.1272C>T, XM_047435899.1:c.1272C>A, XM_047435902.1:c.831C>T, XM_047435902.1:c.831C>A, XM_047435903.1:c.831C>T, XM_047435903.1:c.831C>A, XM_047435904.1:c.828C>T, XM_047435904.1:c.828C>A, XM_047435906.1:c.435C>T, XM_047435906.1:c.435C>A, XM_047435907.1:c.612C>T, XM_047435907.1:c.612C>A, NM_001384749.1:c.831C>T, NM_001384749.1:c.831C>A, NM_001384747.1:c.831C>T, NM_001384747.1:c.831C>A, NM_001384750.1:c.612C>T, NM_001384750.1:c.612C>A, NM_001330323.1:c.435C>T, NM_001330323.1:c.435C>A, NP_002137.4:p.Asn277Lys, XP_011523010.2:p.Asn145Lys, XP_011523028.1:p.Asn204Lys, XP_016880049.1:p.Asn424Lys, XP_024306505.1:p.Asn277Lys, NP_001317251.1:p.Asn204Lys, XP_047291857.1:p.Asn424Lys, XP_047291856.1:p.Asn424Lys, XP_047291855.1:p.Asn424Lys, XP_047291858.1:p.Asn277Lys, XP_047291859.1:p.Asn277Lys, XP_047291860.1:p.Asn276Lys, XP_047291862.1:p.Asn145Lys, XP_047291863.1:p.Asn204Lys, NP_001371678.1:p.Asn277Lys, NP_001371676.1:p.Asn277Lys, NP_001371679.1:p.Asn204Lys, NP_001317252.1:p.Asn145Lys

                              15.

                              rs1457464334 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:48550772 (GRCh38)
                                17:46628134 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:48550771:G:A
                                Gene:
                                HOXB3 (Varview), HOXB-AS1 (Varview)
                                Functional Consequence:
                                synonymous_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1454484938 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  17:48550670 (GRCh38)
                                  17:46628032 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:48550669:C:A
                                  Gene:
                                  HOXB3 (Varview), HOXB-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000113/1 (ALFA)
                                  A=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.48550670C>A, NC_000017.10:g.46628032C>A, NM_002146.4:c.960G>T, XM_011524708.4:c.564G>T, XM_011524708.3:c.564G>T, XM_011524708.2:c.1131G>T, XM_011524708.1:c.1131G>T, XM_011524726.3:c.741G>T, XM_011524726.2:c.741G>T, XM_011524726.1:c.741G>T, XM_017024560.2:c.1401G>T, XM_017024560.1:c.1401G>T, XM_024450737.2:c.960G>T, XM_024450737.1:c.960G>T, NM_001330322.2:c.741G>T, NM_001330322.1:c.741G>T, XM_047435901.1:c.1401G>T, XM_047435900.1:c.1401G>T, XM_047435899.1:c.1401G>T, XM_047435902.1:c.960G>T, XM_047435903.1:c.960G>T, XM_047435904.1:c.957G>T, XM_047435906.1:c.564G>T, XM_047435907.1:c.741G>T, NM_001384749.1:c.960G>T, NM_001384747.1:c.960G>T, NM_001384750.1:c.741G>T, NM_001330323.1:c.564G>T, NP_002137.4:p.Lys320Asn, XP_011523010.2:p.Lys188Asn, XP_011523028.1:p.Lys247Asn, XP_016880049.1:p.Lys467Asn, XP_024306505.1:p.Lys320Asn, NP_001317251.1:p.Lys247Asn, XP_047291857.1:p.Lys467Asn, XP_047291856.1:p.Lys467Asn, XP_047291855.1:p.Lys467Asn, XP_047291858.1:p.Lys320Asn, XP_047291859.1:p.Lys320Asn, XP_047291860.1:p.Lys319Asn, XP_047291862.1:p.Lys188Asn, XP_047291863.1:p.Lys247Asn, NP_001371678.1:p.Lys320Asn, NP_001371676.1:p.Lys320Asn, NP_001371679.1:p.Lys247Asn, NP_001317252.1:p.Lys188Asn

                                  17.

                                  rs1453513397 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TCCGCC>- [Show Flanks]
                                    Chromosome:
                                    17:48551141 (GRCh38)
                                    17:46628503 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:48551137:GCCTCCGCC:GCC
                                    Gene:
                                    HOXB3 (Varview), HOXB-AS1 (Varview)
                                    Functional Consequence:
                                    inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GCC=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.48551141_48551146del, NC_000017.10:g.46628503_46628508del, NM_002146.4:c.487_492del, XM_011524708.4:c.91_96del, XM_011524708.3:c.91_96del, XM_011524708.2:c.658_663del, XM_011524708.1:c.658_663del, XM_011524726.3:c.268_273del, XM_011524726.2:c.268_273del, XM_011524726.1:c.268_273del, XM_017024560.2:c.928_933del, XM_017024560.1:c.928_933del, XM_024450737.2:c.487_492del, XM_024450737.1:c.487_492del, NM_001330322.2:c.268_273del, NM_001330322.1:c.268_273del, XM_047435901.1:c.928_933del, XM_047435900.1:c.928_933del, XM_047435899.1:c.928_933del, XM_047435902.1:c.487_492del, XM_047435903.1:c.487_492del, XM_047435904.1:c.484_489del, XM_047435906.1:c.91_96del, XM_047435907.1:c.268_273del, NM_001384749.1:c.487_492del, NM_001384747.1:c.487_492del, NM_001384750.1:c.268_273del, NM_001330323.1:c.91_96del, NR_102279.1:n.697_702del, NP_002137.4:p.Gly163_Gly164del, XP_011523010.2:p.Gly31_Gly32del, XP_011523028.1:p.Gly90_Gly91del, XP_016880049.1:p.Gly310_Gly311del, XP_024306505.1:p.Gly163_Gly164del, NP_001317251.1:p.Gly90_Gly91del, XP_047291857.1:p.Gly310_Gly311del, XP_047291856.1:p.Gly310_Gly311del, XP_047291855.1:p.Gly310_Gly311del, XP_047291858.1:p.Gly163_Gly164del, XP_047291859.1:p.Gly163_Gly164del, XP_047291860.1:p.Gly162_Gly163del, XP_047291862.1:p.Gly31_Gly32del, XP_047291863.1:p.Gly90_Gly91del, NP_001371678.1:p.Gly163_Gly164del, NP_001371676.1:p.Gly163_Gly164del, NP_001371679.1:p.Gly90_Gly91del, NP_001317252.1:p.Gly31_Gly32del

                                    18.

                                    rs1451550837 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:48551074 (GRCh38)
                                      17:46628436 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:48551073:C:T
                                      Gene:
                                      HOXB3 (Varview), HOXB-AS1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000017.11:g.48551074C>T, NC_000017.10:g.46628436C>T, NM_002146.4:c.556G>A, XM_011524708.4:c.160G>A, XM_011524708.3:c.160G>A, XM_011524708.2:c.727G>A, XM_011524708.1:c.727G>A, XM_011524726.3:c.337G>A, XM_011524726.2:c.337G>A, XM_011524726.1:c.337G>A, XM_017024560.2:c.997G>A, XM_017024560.1:c.997G>A, XM_024450737.2:c.556G>A, XM_024450737.1:c.556G>A, NM_001330322.2:c.337G>A, NM_001330322.1:c.337G>A, XM_047435901.1:c.997G>A, XM_047435900.1:c.997G>A, XM_047435899.1:c.997G>A, XM_047435902.1:c.556G>A, XM_047435903.1:c.556G>A, XM_047435904.1:c.553G>A, XM_047435906.1:c.160G>A, XM_047435907.1:c.337G>A, NM_001384749.1:c.556G>A, NM_001384747.1:c.556G>A, NM_001384750.1:c.337G>A, NM_001330323.1:c.160G>A, NR_102279.1:n.630C>T, NP_002137.4:p.Ala186Thr, XP_011523010.2:p.Ala54Thr, XP_011523028.1:p.Ala113Thr, XP_016880049.1:p.Ala333Thr, XP_024306505.1:p.Ala186Thr, NP_001317251.1:p.Ala113Thr, XP_047291857.1:p.Ala333Thr, XP_047291856.1:p.Ala333Thr, XP_047291855.1:p.Ala333Thr, XP_047291858.1:p.Ala186Thr, XP_047291859.1:p.Ala186Thr, XP_047291860.1:p.Ala185Thr, XP_047291862.1:p.Ala54Thr, XP_047291863.1:p.Ala113Thr, NP_001371678.1:p.Ala186Thr, NP_001371676.1:p.Ala186Thr, NP_001371679.1:p.Ala113Thr, NP_001317252.1:p.Ala54Thr

                                      19.

                                      rs1449971365 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:48550379 (GRCh38)
                                        17:46627741 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:48550378:A:G
                                        Gene:
                                        HOXB3 (Varview), HOXB-AS1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000021/3 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1448583830 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:48550973 (GRCh38)
                                          17:46628335 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:48550972:T:C
                                          Gene:
                                          HOXB3 (Varview), HOXB-AS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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