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Items: 1 to 20 of 984

1.

rs1491142370 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    2:1493987 (GRCh38)
    2:1497760 (GRCh37)
    Canonical SPDI:
    NC_000002.12:1493987:T:TT
    Gene:
    TPO (Varview), LOC124905966 (Varview)
    Functional Consequence:
    frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Clinical significance:
    pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.1493988dup, NC_000002.11:g.1497760dup, NG_011581.1:g.85526dup, NM_000547.6:c.1955dup, NM_000547.5:c.1955dup, NM_175719.4:c.1784dup, NM_175719.3:c.1784dup, NM_175721.3:c.1955dup, NM_175722.3:c.1436dup, NM_001206744.2:c.1955dup, NM_001206744.1:c.1955dup, NM_001206745.2:c.1784dup, NM_001206745.1:c.1784dup, NT_187529.1:g.176359dup, XM_011510380.4:c.1991dup, XM_011510380.3:c.1991dup, XM_011510380.2:c.1955dup, XM_011510380.1:c.1955dup, XM_024453090.2:c.1991dup, XM_024453090.1:c.1991dup, XM_024453092.2:c.1820dup, XM_024453092.1:c.1820dup, XM_024453093.2:c.1472dup, XM_024453093.1:c.1472dup, XM_024453085.2:c.1991dup, XM_024453085.1:c.1991dup, XM_047445652.1:c.1955dup, XM_047445655.1:c.1955dup, XM_047445654.1:c.1955dup, XM_047445656.1:c.1955dup, XM_047445653.1:c.1955dup, XM_047445657.1:c.1991dup, XM_024453091.2:c.1820dup, XM_024453091.1:c.1820dup, XM_024453089.2:c.1955dup, XM_024453089.1:c.1955dup, XM_024453088.2:c.1955dup, XM_024453088.1:c.1955dup, XM_024453087.2:c.1955dup, XM_024453087.1:c.1955dup, NM_175720.1:c.1955dup, NP_000538.3:p.Phe653fs, NP_783650.1:p.Phe596fs, NP_783652.1:p.Phe653fs, NP_783653.1:p.Phe480fs, NP_001193673.1:p.Phe653fs, NP_001193674.1:p.Phe596fs, XP_011508682.2:p.Phe665fs, XP_024308858.1:p.Phe665fs, XP_024308860.1:p.Phe608fs, XP_024308861.1:p.Phe492fs, XP_024308853.1:p.Phe665fs, XP_047301608.1:p.Phe653fs, XP_047301611.1:p.Phe653fs, XP_047301610.1:p.Phe653fs, XP_047301612.1:p.Phe653fs, XP_047301609.1:p.Phe653fs, XP_047301613.1:p.Phe665fs, XP_024308859.1:p.Phe608fs, XP_024308857.1:p.Phe653fs, XP_024308856.1:p.Phe653fs, XP_024308855.1:p.Phe653fs

    2.

    rs1490697151 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      2:1495997 (GRCh38)
      2:1499769 (GRCh37)
      Canonical SPDI:
      NC_000002.12:1495996:G:C
      Gene:
      TPO (Varview), LOC124905966 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.1495997G>C, NC_000002.11:g.1499769G>C, NG_011581.1:g.87535G>C, NM_000547.6:c.2015G>C, NM_000547.5:c.2015G>C, NM_175719.4:c.1844G>C, NM_175719.3:c.1844G>C, NM_175721.3:c.2015G>C, NM_175722.3:c.1496G>C, NM_001206744.2:c.2015G>C, NM_001206744.1:c.2015G>C, NM_001206745.2:c.1844G>C, NM_001206745.1:c.1844G>C, NT_187529.1:g.178368G>C, XM_011510380.4:c.2051G>C, XM_011510380.3:c.2051G>C, XM_011510380.2:c.2015G>C, XM_011510380.1:c.2015G>C, XM_024453090.2:c.2051G>C, XM_024453090.1:c.2051G>C, XM_024453092.2:c.1880G>C, XM_024453092.1:c.1880G>C, XM_024453093.2:c.1532G>C, XM_024453093.1:c.1532G>C, XM_024453085.2:c.2051G>C, XM_024453085.1:c.2051G>C, XM_047445652.1:c.2015G>C, XM_047445655.1:c.2015G>C, XM_047445654.1:c.2015G>C, XM_047445656.1:c.2015G>C, XM_047445653.1:c.2015G>C, XM_047445657.1:c.2051G>C, XM_024453091.2:c.1880G>C, XM_024453091.1:c.1880G>C, XM_024453089.2:c.2015G>C, XM_024453089.1:c.2015G>C, XM_024453088.2:c.2015G>C, XM_024453088.1:c.2015G>C, XM_024453087.2:c.2015G>C, XM_024453087.1:c.2015G>C, NM_175720.1:c.2015G>C, NP_000538.3:p.Trp672Ser, NP_783650.1:p.Trp615Ser, NP_783652.1:p.Trp672Ser, NP_783653.1:p.Trp499Ser, NP_001193673.1:p.Trp672Ser, NP_001193674.1:p.Trp615Ser, XP_011508682.2:p.Trp684Ser, XP_024308858.1:p.Trp684Ser, XP_024308860.1:p.Trp627Ser, XP_024308861.1:p.Trp511Ser, XP_024308853.1:p.Trp684Ser, XP_047301608.1:p.Trp672Ser, XP_047301611.1:p.Trp672Ser, XP_047301610.1:p.Trp672Ser, XP_047301612.1:p.Trp672Ser, XP_047301609.1:p.Trp672Ser, XP_047301613.1:p.Trp684Ser, XP_024308859.1:p.Trp627Ser, XP_024308857.1:p.Trp672Ser, XP_024308856.1:p.Trp672Ser, XP_024308855.1:p.Trp672Ser

      3.

      rs1489884359 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        2:1496668 (GRCh38)
        2:1500440 (GRCh37)
        Canonical SPDI:
        NC_000002.12:1496667:G:C
        Gene:
        TPO (Varview), LOC124905966 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000047/1 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.1496668G>C, NC_000002.11:g.1500440G>C, NG_011581.1:g.88206G>C, NM_000547.6:c.2289G>C, NM_000547.5:c.2289G>C, NM_175719.4:c.2118G>C, NM_175719.3:c.2118G>C, NM_175721.3:c.2289G>C, NM_175722.3:c.1770G>C, NM_001206744.2:c.2289G>C, NM_001206744.1:c.2289G>C, NM_001206745.2:c.2118G>C, NM_001206745.1:c.2118G>C, NT_187529.1:g.179039G>C, XM_011510380.4:c.2325G>C, XM_011510380.3:c.2325G>C, XM_011510380.2:c.2289G>C, XM_011510380.1:c.2289G>C, XM_024453090.2:c.2325G>C, XM_024453090.1:c.2325G>C, XM_024453092.2:c.2154G>C, XM_024453092.1:c.2154G>C, XM_024453093.2:c.1806G>C, XM_024453093.1:c.1806G>C, XM_024453085.2:c.2325G>C, XM_024453085.1:c.2325G>C, XM_047445652.1:c.2289G>C, XM_047445655.1:c.2289G>C, XM_047445654.1:c.2289G>C, XM_047445656.1:c.2289G>C, XM_047445653.1:c.2289G>C, XM_047445657.1:c.2325G>C, XM_024453091.2:c.2154G>C, XM_024453091.1:c.2154G>C, XM_024453089.2:c.2289G>C, XM_024453089.1:c.2289G>C, XM_024453088.2:c.2289G>C, XM_024453088.1:c.2289G>C, XM_024453087.2:c.2289G>C, XM_024453087.1:c.2289G>C, NM_175720.1:c.2289G>C

        4.

        rs1489879442 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          2:1493906 (GRCh38)
          2:1497678 (GRCh37)
          Canonical SPDI:
          NC_000002.12:1493905:T:A
          Gene:
          TPO (Varview), LOC124905966 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.1493906T>A, NC_000002.11:g.1497678T>A, NG_011581.1:g.85444T>A, NM_000547.6:c.1873T>A, NM_000547.5:c.1873T>A, NM_175719.4:c.1702T>A, NM_175719.3:c.1702T>A, NM_175721.3:c.1873T>A, NM_175722.3:c.1354T>A, NM_001206744.2:c.1873T>A, NM_001206744.1:c.1873T>A, NM_001206745.2:c.1702T>A, NM_001206745.1:c.1702T>A, NT_187529.1:g.176277T>A, XM_011510380.4:c.1909T>A, XM_011510380.3:c.1909T>A, XM_011510380.2:c.1873T>A, XM_011510380.1:c.1873T>A, XM_024453090.2:c.1909T>A, XM_024453090.1:c.1909T>A, XM_024453092.2:c.1738T>A, XM_024453092.1:c.1738T>A, XM_024453093.2:c.1390T>A, XM_024453093.1:c.1390T>A, XM_024453085.2:c.1909T>A, XM_024453085.1:c.1909T>A, XM_047445652.1:c.1873T>A, XM_047445655.1:c.1873T>A, XM_047445654.1:c.1873T>A, XM_047445656.1:c.1873T>A, XM_047445653.1:c.1873T>A, XM_047445657.1:c.1909T>A, XM_024453091.2:c.1738T>A, XM_024453091.1:c.1738T>A, XM_024453089.2:c.1873T>A, XM_024453089.1:c.1873T>A, XM_024453088.2:c.1873T>A, XM_024453088.1:c.1873T>A, XM_024453087.2:c.1873T>A, XM_024453087.1:c.1873T>A, NM_175720.1:c.1873T>A, NP_000538.3:p.Leu625Met, NP_783650.1:p.Leu568Met, NP_783652.1:p.Leu625Met, NP_783653.1:p.Leu452Met, NP_001193673.1:p.Leu625Met, NP_001193674.1:p.Leu568Met, XP_011508682.2:p.Leu637Met, XP_024308858.1:p.Leu637Met, XP_024308860.1:p.Leu580Met, XP_024308861.1:p.Leu464Met, XP_024308853.1:p.Leu637Met, XP_047301608.1:p.Leu625Met, XP_047301611.1:p.Leu625Met, XP_047301610.1:p.Leu625Met, XP_047301612.1:p.Leu625Met, XP_047301609.1:p.Leu625Met, XP_047301613.1:p.Leu637Met, XP_024308859.1:p.Leu580Met, XP_024308857.1:p.Leu625Met, XP_024308856.1:p.Leu625Met, XP_024308855.1:p.Leu625Met

          5.

          rs1489453119 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:1487833 (GRCh38)
            2:1491605 (GRCh37)
            Canonical SPDI:
            NC_000002.12:1487832:C:T
            Gene:
            TPO (Varview), LOC124905966 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.1487833C>T, NC_000002.11:g.1491605C>T, NG_011581.1:g.79371C>T, NM_000547.6:c.1610C>T, NM_000547.5:c.1610C>T, NM_175721.3:c.1610C>T, NM_175722.3:c.1091C>T, NM_001206744.2:c.1610C>T, NM_001206744.1:c.1610C>T, NT_187529.1:g.170204C>T, XM_011510380.4:c.1646C>T, XM_011510380.3:c.1646C>T, XM_011510380.2:c.1610C>T, XM_011510380.1:c.1610C>T, XM_024453090.2:c.1646C>T, XM_024453090.1:c.1646C>T, XM_024453093.2:c.1127C>T, XM_024453093.1:c.1127C>T, XM_024453085.2:c.1646C>T, XM_024453085.1:c.1646C>T, XM_047445652.1:c.1610C>T, XM_047445655.1:c.1610C>T, XM_047445654.1:c.1610C>T, XM_047445656.1:c.1610C>T, XM_047445653.1:c.1610C>T, XM_047445657.1:c.1646C>T, XM_024453089.2:c.1610C>T, XM_024453089.1:c.1610C>T, XM_024453088.2:c.1610C>T, XM_024453088.1:c.1610C>T, XM_024453087.2:c.1610C>T, XM_024453087.1:c.1610C>T, NM_175720.1:c.1610C>T, NP_000538.3:p.Pro537Leu, NP_783652.1:p.Pro537Leu, NP_783653.1:p.Pro364Leu, NP_001193673.1:p.Pro537Leu, XP_011508682.2:p.Pro549Leu, XP_024308858.1:p.Pro549Leu, XP_024308861.1:p.Pro376Leu, XP_024308853.1:p.Pro549Leu, XP_047301608.1:p.Pro537Leu, XP_047301611.1:p.Pro537Leu, XP_047301610.1:p.Pro537Leu, XP_047301612.1:p.Pro537Leu, XP_047301609.1:p.Pro537Leu, XP_047301613.1:p.Pro549Leu, XP_024308857.1:p.Pro537Leu, XP_024308856.1:p.Pro537Leu, XP_024308855.1:p.Pro537Leu

            6.

            rs1487071643 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GTACGACTCT [Show Flanks]
              Chromosome:
              2:1542524 (GRCh38)
              2:1546297 (GRCh37)
              Canonical SPDI:
              NC_000002.12:1542524:GTACGACTCT:GTACGACTCTGTACGACTCT
              Gene:
              TPO (Varview), LOC124905966 (Varview)
              Functional Consequence:
              coding_sequence_variant,upstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              GTACGACTCTGTACGACTCT=0./0 (ALFA)
              GTACGACTCT=0.000008/2 (TOPMED)
              HGVS:
              NC_000002.12:g.1542525_1542534dup, NC_000002.11:g.1546297_1546306dup, NG_011581.1:g.134063_134072dup, NM_000547.6:c.*51_*60dup, NM_000547.5:c.*51_*60dup, NM_175719.4:c.*51_*60dup, NM_175719.3:c.*51_*60dup, NM_175721.3:c.*51_*60dup, NM_175722.3:c.*51_*60dup, NM_001206744.2:c.*51_*60dup, NM_001206744.1:c.*51_*60dup, NM_001206745.2:c.*51_*60dup, NM_001206745.1:c.*51_*60dup, XM_011510380.4:c.2759_2768dup, XM_011510380.3:c.2759_2768dup, XM_011510380.2:c.2723_2732dup, XM_011510380.1:c.2723_2732dup, XM_024453090.2:c.*51_*60dup, XM_024453090.1:c.*51_*60dup, XM_024453091.2:c.*51_*60dup, XM_024453091.1:c.*51_*60dup, XM_024453092.2:c.*51_*60dup, XM_024453092.1:c.*51_*60dup, XM_024453093.2:c.*51_*60dup, XM_024453093.1:c.*51_*60dup, XM_047445657.1:c.2627_2636dup, NM_175720.1:c.2723_2732dup, XP_011508682.2:p.Phe924fs, XP_047301613.1:p.Phe880fs

              7.

              rs1486343546 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:1504063 (GRCh38)
                2:1507835 (GRCh37)
                Canonical SPDI:
                NC_000002.12:1504062:T:C
                Gene:
                TPO (Varview), LOC124905966 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1486270681 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:1456171 (GRCh38)
                  2:1459943 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:1456170:C:T
                  Gene:
                  TPO (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_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_000002.12:g.1456171C>T, NC_000002.11:g.1459943C>T, NG_011581.1:g.47709C>T, NM_000547.6:c.708C>T, NM_000547.5:c.708C>T, NM_175719.4:c.708C>T, NM_175719.3:c.708C>T, NM_175721.3:c.708C>T, NM_175722.3:c.708C>T, NM_001206744.2:c.708C>T, NM_001206744.1:c.708C>T, NM_001206745.2:c.708C>T, NM_001206745.1:c.708C>T, NT_187529.1:g.138676C>T, XM_011510380.4:c.744C>T, XM_011510380.3:c.744C>T, XM_011510380.2:c.708C>T, XM_011510380.1:c.708C>T, XM_024453089.2:c.708C>T, XM_024453089.1:c.708C>T, XM_024453090.2:c.744C>T, XM_024453090.1:c.744C>T, XM_024453091.2:c.744C>T, XM_024453091.1:c.744C>T, XM_024453085.2:c.744C>T, XM_024453085.1:c.744C>T, XM_024453092.2:c.744C>T, XM_024453092.1:c.744C>T, XM_024453088.2:c.708C>T, XM_024453088.1:c.708C>T, XM_024453087.2:c.708C>T, XM_024453087.1:c.708C>T, XM_024453093.2:c.744C>T, XM_024453093.1:c.744C>T, XM_047445652.1:c.708C>T, XM_047445655.1:c.708C>T, XM_047445654.1:c.708C>T, XM_047445656.1:c.708C>T, XM_047445653.1:c.708C>T, XM_047445657.1:c.744C>T, NM_175720.1:c.708C>T

                  9.

                  rs1484621876 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    2:1453762 (GRCh38)
                    2:1457534 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:1453761:G:A,NC_000002.12:1453761:G:C
                    Gene:
                    TPO (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000002.12:g.1453762G>A, NC_000002.12:g.1453762G>C, NC_000002.11:g.1457534G>A, NC_000002.11:g.1457534G>C, NG_011581.1:g.45300G>A, NG_011581.1:g.45300G>C, NM_000547.6:c.551G>A, NM_000547.6:c.551G>C, NM_000547.5:c.551G>A, NM_000547.5:c.551G>C, NM_175719.4:c.551G>A, NM_175719.4:c.551G>C, NM_175719.3:c.551G>A, NM_175719.3:c.551G>C, NM_175721.3:c.551G>A, NM_175721.3:c.551G>C, NM_175722.3:c.551G>A, NM_175722.3:c.551G>C, NM_001206744.2:c.551G>A, NM_001206744.2:c.551G>C, NM_001206744.1:c.551G>A, NM_001206744.1:c.551G>C, NM_001206745.2:c.551G>A, NM_001206745.2:c.551G>C, NM_001206745.1:c.551G>A, NM_001206745.1:c.551G>C, NT_187529.1:g.136270G>A, NT_187529.1:g.136270G>C, XM_011510380.4:c.587G>A, XM_011510380.4:c.587G>C, XM_011510380.3:c.587G>A, XM_011510380.3:c.587G>C, XM_011510380.2:c.551G>A, XM_011510380.2:c.551G>C, XM_011510380.1:c.551G>A, XM_011510380.1:c.551G>C, XM_024453089.2:c.551G>A, XM_024453089.2:c.551G>C, XM_024453089.1:c.551G>A, XM_024453089.1:c.551G>C, XM_024453090.2:c.587G>A, XM_024453090.2:c.587G>C, XM_024453090.1:c.587G>A, XM_024453090.1:c.587G>C, XM_024453091.2:c.587G>A, XM_024453091.2:c.587G>C, XM_024453091.1:c.587G>A, XM_024453091.1:c.587G>C, XM_024453085.2:c.587G>A, XM_024453085.2:c.587G>C, XM_024453085.1:c.587G>A, XM_024453085.1:c.587G>C, XM_024453092.2:c.587G>A, XM_024453092.2:c.587G>C, XM_024453092.1:c.587G>A, XM_024453092.1:c.587G>C, XM_024453088.2:c.551G>A, XM_024453088.2:c.551G>C, XM_024453088.1:c.551G>A, XM_024453088.1:c.551G>C, XM_024453087.2:c.551G>A, XM_024453087.2:c.551G>C, XM_024453087.1:c.551G>A, XM_024453087.1:c.551G>C, XM_024453093.2:c.587G>A, XM_024453093.2:c.587G>C, XM_024453093.1:c.587G>A, XM_024453093.1:c.587G>C, XM_047445652.1:c.551G>A, XM_047445652.1:c.551G>C, XM_047445655.1:c.551G>A, XM_047445655.1:c.551G>C, XM_047445654.1:c.551G>A, XM_047445654.1:c.551G>C, XM_047445656.1:c.551G>A, XM_047445656.1:c.551G>C, XM_047445653.1:c.551G>A, XM_047445653.1:c.551G>C, XM_047445657.1:c.587G>A, XM_047445657.1:c.587G>C, NM_175720.1:c.551G>A, NM_175720.1:c.551G>C, NP_000538.3:p.Gly184Asp, NP_000538.3:p.Gly184Ala, NP_783650.1:p.Gly184Asp, NP_783650.1:p.Gly184Ala, NP_783652.1:p.Gly184Asp, NP_783652.1:p.Gly184Ala, NP_783653.1:p.Gly184Asp, NP_783653.1:p.Gly184Ala, NP_001193673.1:p.Gly184Asp, NP_001193673.1:p.Gly184Ala, NP_001193674.1:p.Gly184Asp, NP_001193674.1:p.Gly184Ala, XP_011508682.2:p.Gly196Asp, XP_011508682.2:p.Gly196Ala, XP_024308857.1:p.Gly184Asp, XP_024308857.1:p.Gly184Ala, XP_024308858.1:p.Gly196Asp, XP_024308858.1:p.Gly196Ala, XP_024308859.1:p.Gly196Asp, XP_024308859.1:p.Gly196Ala, XP_024308853.1:p.Gly196Asp, XP_024308853.1:p.Gly196Ala, XP_024308860.1:p.Gly196Asp, XP_024308860.1:p.Gly196Ala, XP_024308856.1:p.Gly184Asp, XP_024308856.1:p.Gly184Ala, XP_024308855.1:p.Gly184Asp, XP_024308855.1:p.Gly184Ala, XP_024308861.1:p.Gly196Asp, XP_024308861.1:p.Gly196Ala, XP_047301608.1:p.Gly184Asp, XP_047301608.1:p.Gly184Ala, XP_047301611.1:p.Gly184Asp, XP_047301611.1:p.Gly184Ala, XP_047301610.1:p.Gly184Asp, XP_047301610.1:p.Gly184Ala, XP_047301612.1:p.Gly184Asp, XP_047301612.1:p.Gly184Ala, XP_047301609.1:p.Gly184Asp, XP_047301609.1:p.Gly184Ala, XP_047301613.1:p.Gly196Asp, XP_047301613.1:p.Gly196Ala

                    10.

                    rs1483767054 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      2:1436340 (GRCh38)
                      2:1440112 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:1436339:C:A,NC_000002.12:1436339:C:T
                      Gene:
                      TPO (Varview)
                      Functional Consequence:
                      stop_gained,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.1436340C>A, NC_000002.12:g.1436340C>T, NC_000002.11:g.1440112C>A, NC_000002.11:g.1440112C>T, NG_011581.1:g.27878C>A, NG_011581.1:g.27878C>T, NM_000547.6:c.438C>A, NM_000547.6:c.438C>T, NM_000547.5:c.438C>A, NM_000547.5:c.438C>T, NM_175719.4:c.438C>A, NM_175719.4:c.438C>T, NM_175719.3:c.438C>A, NM_175719.3:c.438C>T, NM_175721.3:c.438C>A, NM_175721.3:c.438C>T, NM_175722.3:c.438C>A, NM_175722.3:c.438C>T, NM_001206744.2:c.438C>A, NM_001206744.2:c.438C>T, NM_001206744.1:c.438C>A, NM_001206744.1:c.438C>T, NM_001206745.2:c.438C>A, NM_001206745.2:c.438C>T, NM_001206745.1:c.438C>A, NM_001206745.1:c.438C>T, NT_187529.1:g.119274C>A, NT_187529.1:g.119274C>T, XM_011510380.4:c.474C>A, XM_011510380.4:c.474C>T, XM_011510380.3:c.474C>A, XM_011510380.3:c.474C>T, XM_011510380.2:c.438C>A, XM_011510380.2:c.438C>T, XM_011510380.1:c.438C>A, XM_011510380.1:c.438C>T, XM_024453089.2:c.438C>A, XM_024453089.2:c.438C>T, XM_024453089.1:c.438C>A, XM_024453089.1:c.438C>T, XM_024453090.2:c.474C>A, XM_024453090.2:c.474C>T, XM_024453090.1:c.474C>A, XM_024453090.1:c.474C>T, XM_024453091.2:c.474C>A, XM_024453091.2:c.474C>T, XM_024453091.1:c.474C>A, XM_024453091.1:c.474C>T, XM_024453085.2:c.474C>A, XM_024453085.2:c.474C>T, XM_024453085.1:c.474C>A, XM_024453085.1:c.474C>T, XM_024453092.2:c.474C>A, XM_024453092.2:c.474C>T, XM_024453092.1:c.474C>A, XM_024453092.1:c.474C>T, XM_024453088.2:c.438C>A, XM_024453088.2:c.438C>T, XM_024453088.1:c.438C>A, XM_024453088.1:c.438C>T, XM_024453087.2:c.438C>A, XM_024453087.2:c.438C>T, XM_024453087.1:c.438C>A, XM_024453087.1:c.438C>T, XM_024453093.2:c.474C>A, XM_024453093.2:c.474C>T, XM_024453093.1:c.474C>A, XM_024453093.1:c.474C>T, XM_047445652.1:c.438C>A, XM_047445652.1:c.438C>T, XM_047445655.1:c.438C>A, XM_047445655.1:c.438C>T, XM_047445654.1:c.438C>A, XM_047445654.1:c.438C>T, XM_047445656.1:c.438C>A, XM_047445656.1:c.438C>T, XM_047445653.1:c.438C>A, XM_047445653.1:c.438C>T, XM_047445657.1:c.474C>A, XM_047445657.1:c.474C>T, NM_175720.1:c.438C>A, NM_175720.1:c.438C>T, NP_000538.3:p.Cys146Ter, NP_783650.1:p.Cys146Ter, NP_783652.1:p.Cys146Ter, NP_783653.1:p.Cys146Ter, NP_001193673.1:p.Cys146Ter, NP_001193674.1:p.Cys146Ter, XP_011508682.2:p.Cys158Ter, XP_024308857.1:p.Cys146Ter, XP_024308858.1:p.Cys158Ter, XP_024308859.1:p.Cys158Ter, XP_024308853.1:p.Cys158Ter, XP_024308860.1:p.Cys158Ter, XP_024308856.1:p.Cys146Ter, XP_024308855.1:p.Cys146Ter, XP_024308861.1:p.Cys158Ter, XP_047301608.1:p.Cys146Ter, XP_047301611.1:p.Cys146Ter, XP_047301610.1:p.Cys146Ter, XP_047301612.1:p.Cys146Ter, XP_047301609.1:p.Cys146Ter, XP_047301613.1:p.Cys158Ter

                      11.

                      rs1483637719 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:1484794 (GRCh38)
                        2:1488566 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:1484793:G:A
                        Gene:
                        TPO (Varview), LOC124905966 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000045/2 (ALFA)
                        A=0.000008/2 (GnomAD_exomes)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000002.12:g.1484794G>A, NC_000002.11:g.1488566G>A, NG_011581.1:g.76332G>A, NM_000547.6:c.1537G>A, NM_000547.5:c.1537G>A, NM_175719.4:c.1537G>A, NM_175719.3:c.1537G>A, NM_175721.3:c.1537G>A, NM_175722.3:c.1018G>A, NM_001206744.2:c.1537G>A, NM_001206744.1:c.1537G>A, NM_001206745.2:c.1537G>A, NM_001206745.1:c.1537G>A, NT_187529.1:g.167165G>A, XM_011510380.4:c.1573G>A, XM_011510380.3:c.1573G>A, XM_011510380.2:c.1537G>A, XM_011510380.1:c.1537G>A, XM_024453090.2:c.1573G>A, XM_024453090.1:c.1573G>A, XM_024453092.2:c.1573G>A, XM_024453092.1:c.1573G>A, XM_024453085.2:c.1573G>A, XM_024453085.1:c.1573G>A, XM_024453093.2:c.1054G>A, XM_024453093.1:c.1054G>A, XM_047445652.1:c.1537G>A, XM_047445655.1:c.1537G>A, XM_047445654.1:c.1537G>A, XM_047445656.1:c.1537G>A, XM_047445653.1:c.1537G>A, XM_047445657.1:c.1573G>A, NM_175720.1:c.1537G>A, XM_024453088.2:c.1537G>A, XM_024453088.1:c.1537G>A, XM_024453089.2:c.1537G>A, XM_024453089.1:c.1537G>A, XM_024453091.2:c.1573G>A, XM_024453091.1:c.1573G>A, XR_007086185.1:n.1564C>T, XM_024453087.2:c.1537G>A, XM_024453087.1:c.1537G>A, NP_000538.3:p.Asp513Asn, NP_783650.1:p.Asp513Asn, NP_783652.1:p.Asp513Asn, NP_783653.1:p.Asp340Asn, NP_001193673.1:p.Asp513Asn, NP_001193674.1:p.Asp513Asn, XP_011508682.2:p.Asp525Asn, XP_024308858.1:p.Asp525Asn, XP_024308860.1:p.Asp525Asn, XP_024308853.1:p.Asp525Asn, XP_024308861.1:p.Asp352Asn, XP_047301608.1:p.Asp513Asn, XP_047301611.1:p.Asp513Asn, XP_047301610.1:p.Asp513Asn, XP_047301612.1:p.Asp513Asn, XP_047301609.1:p.Asp513Asn, XP_047301613.1:p.Asp525Asn, XP_024308856.1:p.Asp513Asn, XP_024308857.1:p.Asp513Asn, XP_024308859.1:p.Asp525Asn, XP_024308855.1:p.Asp513Asn

                        12.

                        rs1483305328 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:1542583 (GRCh38)
                          2:1546355 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:1542582:A:G
                          Gene:
                          TPO (Varview), LOC124905966 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1483056368 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:1487899 (GRCh38)
                            2:1491671 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:1487898:A:T
                            Gene:
                            TPO (Varview), LOC124905966 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.1487899A>T, NC_000002.11:g.1491671A>T, NG_011581.1:g.79437A>T, NM_000547.6:c.1676A>T, NM_000547.5:c.1676A>T, NM_175721.3:c.1676A>T, NM_175722.3:c.1157A>T, NM_001206744.2:c.1676A>T, NM_001206744.1:c.1676A>T, NT_187529.1:g.170270A>T, XM_011510380.4:c.1712A>T, XM_011510380.3:c.1712A>T, XM_011510380.2:c.1676A>T, XM_011510380.1:c.1676A>T, XM_024453090.2:c.1712A>T, XM_024453090.1:c.1712A>T, XM_024453093.2:c.1193A>T, XM_024453093.1:c.1193A>T, XM_024453085.2:c.1712A>T, XM_024453085.1:c.1712A>T, XM_047445652.1:c.1676A>T, XM_047445655.1:c.1676A>T, XM_047445654.1:c.1676A>T, XM_047445656.1:c.1676A>T, XM_047445653.1:c.1676A>T, XM_047445657.1:c.1712A>T, XM_024453089.2:c.1676A>T, XM_024453089.1:c.1676A>T, XM_024453088.2:c.1676A>T, XM_024453088.1:c.1676A>T, XM_024453087.2:c.1676A>T, XM_024453087.1:c.1676A>T, NM_175720.1:c.1676A>T, NP_000538.3:p.Glu559Val, NP_783652.1:p.Glu559Val, NP_783653.1:p.Glu386Val, NP_001193673.1:p.Glu559Val, XP_011508682.2:p.Glu571Val, XP_024308858.1:p.Glu571Val, XP_024308861.1:p.Glu398Val, XP_024308853.1:p.Glu571Val, XP_047301608.1:p.Glu559Val, XP_047301611.1:p.Glu559Val, XP_047301610.1:p.Glu559Val, XP_047301612.1:p.Glu559Val, XP_047301609.1:p.Glu559Val, XP_047301613.1:p.Glu571Val, XP_024308857.1:p.Glu559Val, XP_024308856.1:p.Glu559Val, XP_024308855.1:p.Glu559Val

                            14.

                            rs1481767029 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:1496728 (GRCh38)
                              2:1500500 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:1496727:C:T
                              Gene:
                              TPO (Varview), LOC124905966 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.1496728C>T, NC_000002.11:g.1500500C>T, NG_011581.1:g.88266C>T, NM_000547.6:c.2349C>T, NM_000547.5:c.2349C>T, NM_175719.4:c.2178C>T, NM_175719.3:c.2178C>T, NM_175721.3:c.2349C>T, NM_175722.3:c.1830C>T, NM_001206744.2:c.2349C>T, NM_001206744.1:c.2349C>T, NM_001206745.2:c.2178C>T, NM_001206745.1:c.2178C>T, NT_187529.1:g.179099C>T, XM_011510380.4:c.2385C>T, XM_011510380.3:c.2385C>T, XM_011510380.2:c.2349C>T, XM_011510380.1:c.2349C>T, XM_024453090.2:c.2385C>T, XM_024453090.1:c.2385C>T, XM_024453092.2:c.2214C>T, XM_024453092.1:c.2214C>T, XM_024453085.2:c.2385C>T, XM_024453085.1:c.2385C>T, XM_024453093.2:c.1866C>T, XM_024453093.1:c.1866C>T, XM_047445652.1:c.2349C>T, XM_047445655.1:c.2349C>T, XM_047445654.1:c.2349C>T, XM_047445656.1:c.2349C>T, XM_047445653.1:c.2349C>T, XM_047445657.1:c.2385C>T, NM_175720.1:c.2349C>T, XM_024453088.2:c.2349C>T, XM_024453088.1:c.2349C>T, XM_024453089.2:c.2349C>T, XM_024453089.1:c.2349C>T, XM_024453091.2:c.2214C>T, XM_024453091.1:c.2214C>T, XM_024453087.2:c.2349C>T, XM_024453087.1:c.2349C>T

                              15.

                              rs1479601776 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:1496610 (GRCh38)
                                2:1500382 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:1496609:T:C
                                Gene:
                                TPO (Varview), LOC124905966 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000111/1 (ALFA)
                                C=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.1496610T>C, NC_000002.11:g.1500382T>C, NG_011581.1:g.88148T>C, NM_000547.6:c.2231T>C, NM_000547.5:c.2231T>C, NM_175719.4:c.2060T>C, NM_175719.3:c.2060T>C, NM_175721.3:c.2231T>C, NM_175722.3:c.1712T>C, NM_001206744.2:c.2231T>C, NM_001206744.1:c.2231T>C, NM_001206745.2:c.2060T>C, NM_001206745.1:c.2060T>C, NT_187529.1:g.178981T>C, XM_011510380.4:c.2267T>C, XM_011510380.3:c.2267T>C, XM_011510380.2:c.2231T>C, XM_011510380.1:c.2231T>C, XM_024453090.2:c.2267T>C, XM_024453090.1:c.2267T>C, XM_024453092.2:c.2096T>C, XM_024453092.1:c.2096T>C, XM_024453093.2:c.1748T>C, XM_024453093.1:c.1748T>C, XM_024453085.2:c.2267T>C, XM_024453085.1:c.2267T>C, XM_047445652.1:c.2231T>C, XM_047445655.1:c.2231T>C, XM_047445654.1:c.2231T>C, XM_047445656.1:c.2231T>C, XM_047445653.1:c.2231T>C, XM_047445657.1:c.2267T>C, XM_024453091.2:c.2096T>C, XM_024453091.1:c.2096T>C, XM_024453089.2:c.2231T>C, XM_024453089.1:c.2231T>C, XM_024453088.2:c.2231T>C, XM_024453088.1:c.2231T>C, XM_024453087.2:c.2231T>C, XM_024453087.1:c.2231T>C, NM_175720.1:c.2231T>C, NP_000538.3:p.Phe744Ser, NP_783650.1:p.Phe687Ser, NP_783652.1:p.Phe744Ser, NP_783653.1:p.Phe571Ser, NP_001193673.1:p.Phe744Ser, NP_001193674.1:p.Phe687Ser, XP_011508682.2:p.Phe756Ser, XP_024308858.1:p.Phe756Ser, XP_024308860.1:p.Phe699Ser, XP_024308861.1:p.Phe583Ser, XP_024308853.1:p.Phe756Ser, XP_047301608.1:p.Phe744Ser, XP_047301611.1:p.Phe744Ser, XP_047301610.1:p.Phe744Ser, XP_047301612.1:p.Phe744Ser, XP_047301609.1:p.Phe744Ser, XP_047301613.1:p.Phe756Ser, XP_024308859.1:p.Phe699Ser, XP_024308857.1:p.Phe744Ser, XP_024308856.1:p.Phe744Ser, XP_024308855.1:p.Phe744Ser

                                16.

                                rs1479220524 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:1540669 (GRCh38)
                                  2:1544441 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:1540668:G:T
                                  Gene:
                                  TPO (Varview), LOC124905966 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.1540669G>T, NC_000002.11:g.1544441G>T, NG_011581.1:g.132207G>T, NM_000547.6:c.2694G>T, NM_000547.5:c.2694G>T, NM_175719.4:c.2523G>T, NM_175719.3:c.2523G>T, NM_175721.3:c.2562G>T, NM_175722.3:c.2175G>T, NM_001206744.2:c.2694G>T, NM_001206744.1:c.2694G>T, NM_001206745.2:c.2523G>T, NM_001206745.1:c.2523G>T, NG_082428.1:g.266G>T, NT_187529.1:g.223040G>T, XM_024453090.2:c.2598G>T, XM_024453090.1:c.2598G>T, XM_024453091.2:c.2559G>T, XM_024453091.1:c.2559G>T, XM_024453085.2:c.2598G>T, XM_024453085.1:c.2598G>T, XM_024453089.2:c.2562G>T, XM_024453089.1:c.2562G>T, XM_024453087.2:c.2562G>T, XM_024453087.1:c.2562G>T, XM_024453093.2:c.2211G>T, XM_024453093.1:c.2211G>T, XM_047445655.1:c.2562G>T, XM_024453092.2:c.2427G>T, XM_024453092.1:c.2427G>T, XM_047445652.1:c.2562G>T, XM_047445654.1:c.2562G>T, XM_047445656.1:c.2562G>T, XM_047445653.1:c.2562G>T, XM_024453088.2:c.2562G>T, XM_024453088.1:c.2562G>T, NP_000538.3:p.Lys898Asn, NP_783650.1:p.Lys841Asn, NP_783652.1:p.Lys854Asn, NP_783653.1:p.Lys725Asn, NP_001193673.1:p.Lys898Asn, NP_001193674.1:p.Lys841Asn, XP_024308858.1:p.Lys866Asn, XP_024308859.1:p.Lys853Asn, XP_024308853.1:p.Lys866Asn, XP_024308857.1:p.Lys854Asn, XP_024308855.1:p.Lys854Asn, XP_024308861.1:p.Lys737Asn, XP_047301611.1:p.Lys854Asn, XP_024308860.1:p.Lys809Asn, XP_047301608.1:p.Lys854Asn, XP_047301610.1:p.Lys854Asn, XP_047301612.1:p.Lys854Asn, XP_047301609.1:p.Lys854Asn, XP_024308856.1:p.Lys854Asn

                                  17.

                                  rs1478800617 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:1433476 (GRCh38)
                                    2:1437248 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:1433475:T:C
                                    Gene:
                                    TPO (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000012/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.1433476T>C, NC_000002.11:g.1437248T>C, NG_011581.1:g.25014T>C, NM_000547.6:c.218T>C, NM_000547.5:c.218T>C, NM_175719.4:c.218T>C, NM_175719.3:c.218T>C, NM_175721.3:c.218T>C, NM_175722.3:c.218T>C, NM_001206744.2:c.218T>C, NM_001206744.1:c.218T>C, NM_001206745.2:c.218T>C, NM_001206745.1:c.218T>C, NT_187529.1:g.116410T>C, XM_011510380.4:c.254T>C, XM_011510380.3:c.254T>C, XM_011510380.2:c.218T>C, XM_011510380.1:c.218T>C, XM_024453089.2:c.218T>C, XM_024453089.1:c.218T>C, XM_024453090.2:c.254T>C, XM_024453090.1:c.254T>C, XM_024453091.2:c.254T>C, XM_024453091.1:c.254T>C, XM_024453085.2:c.254T>C, XM_024453085.1:c.254T>C, XM_024453092.2:c.254T>C, XM_024453092.1:c.254T>C, XM_024453088.2:c.218T>C, XM_024453088.1:c.218T>C, XM_024453087.2:c.218T>C, XM_024453087.1:c.218T>C, XM_024453093.2:c.254T>C, XM_024453093.1:c.254T>C, XM_047445652.1:c.218T>C, XM_047445655.1:c.218T>C, XM_047445654.1:c.218T>C, XM_047445656.1:c.218T>C, XM_047445653.1:c.218T>C, XM_047445657.1:c.254T>C, NM_175720.1:c.218T>C, NP_000538.3:p.Leu73Pro, NP_783650.1:p.Leu73Pro, NP_783652.1:p.Leu73Pro, NP_783653.1:p.Leu73Pro, NP_001193673.1:p.Leu73Pro, NP_001193674.1:p.Leu73Pro, XP_011508682.2:p.Leu85Pro, XP_024308857.1:p.Leu73Pro, XP_024308858.1:p.Leu85Pro, XP_024308859.1:p.Leu85Pro, XP_024308853.1:p.Leu85Pro, XP_024308860.1:p.Leu85Pro, XP_024308856.1:p.Leu73Pro, XP_024308855.1:p.Leu73Pro, XP_024308861.1:p.Leu85Pro, XP_047301608.1:p.Leu73Pro, XP_047301611.1:p.Leu73Pro, XP_047301610.1:p.Leu73Pro, XP_047301612.1:p.Leu73Pro, XP_047301609.1:p.Leu73Pro, XP_047301613.1:p.Leu85Pro

                                    18.

                                    rs1478009585 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:1496120 (GRCh38)
                                      2:1499892 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:1496119:A:G
                                      Gene:
                                      TPO (Varview), LOC124905966 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000224/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000002.12:g.1496120A>G, NC_000002.11:g.1499892A>G, NG_011581.1:g.87658A>G, NM_000547.6:c.2138A>G, NM_000547.5:c.2138A>G, NM_175719.4:c.1967A>G, NM_175719.3:c.1967A>G, NM_175721.3:c.2138A>G, NM_175722.3:c.1619A>G, NM_001206744.2:c.2138A>G, NM_001206744.1:c.2138A>G, NM_001206745.2:c.1967A>G, NM_001206745.1:c.1967A>G, NT_187529.1:g.178491A>G, XM_011510380.4:c.2174A>G, XM_011510380.3:c.2174A>G, XM_011510380.2:c.2138A>G, XM_011510380.1:c.2138A>G, XM_024453090.2:c.2174A>G, XM_024453090.1:c.2174A>G, XM_024453092.2:c.2003A>G, XM_024453092.1:c.2003A>G, XM_024453085.2:c.2174A>G, XM_024453085.1:c.2174A>G, XM_024453093.2:c.1655A>G, XM_024453093.1:c.1655A>G, XM_047445652.1:c.2138A>G, XM_047445655.1:c.2138A>G, XM_047445654.1:c.2138A>G, XM_047445656.1:c.2138A>G, XM_047445653.1:c.2138A>G, XM_047445657.1:c.2174A>G, NM_175720.1:c.2138A>G, XM_024453088.2:c.2138A>G, XM_024453088.1:c.2138A>G, XM_024453089.2:c.2138A>G, XM_024453089.1:c.2138A>G, XM_024453091.2:c.2003A>G, XM_024453091.1:c.2003A>G, XM_024453087.2:c.2138A>G, XM_024453087.1:c.2138A>G, NP_000538.3:p.Lys713Arg, NP_783650.1:p.Lys656Arg, NP_783652.1:p.Lys713Arg, NP_783653.1:p.Lys540Arg, NP_001193673.1:p.Lys713Arg, NP_001193674.1:p.Lys656Arg, XP_011508682.2:p.Lys725Arg, XP_024308858.1:p.Lys725Arg, XP_024308860.1:p.Lys668Arg, XP_024308853.1:p.Lys725Arg, XP_024308861.1:p.Lys552Arg, XP_047301608.1:p.Lys713Arg, XP_047301611.1:p.Lys713Arg, XP_047301610.1:p.Lys713Arg, XP_047301612.1:p.Lys713Arg, XP_047301609.1:p.Lys713Arg, XP_047301613.1:p.Lys725Arg, XP_024308856.1:p.Lys713Arg, XP_024308857.1:p.Lys713Arg, XP_024308859.1:p.Lys668Arg, XP_024308855.1:p.Lys713Arg

                                      19.

                                      rs1478006231 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        2:1540709 (GRCh38)
                                        2:1544481 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:1540708:C:A
                                        Gene:
                                        TPO (Varview), LOC124905966 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000002.12:g.1540709C>A, NC_000002.11:g.1544481C>A, NG_011581.1:g.132247C>A, NM_000547.6:c.2734C>A, NM_000547.5:c.2734C>A, NM_175719.4:c.2563C>A, NM_175719.3:c.2563C>A, NM_175721.3:c.2602C>A, NM_175722.3:c.2215C>A, NM_001206744.2:c.2734C>A, NM_001206744.1:c.2734C>A, NM_001206745.2:c.2563C>A, NM_001206745.1:c.2563C>A, NG_082428.1:g.306C>A, NT_187529.1:g.223080C>A, XM_024453090.2:c.2638C>A, XM_024453090.1:c.2638C>A, XM_024453091.2:c.2599C>A, XM_024453091.1:c.2599C>A, XM_024453085.2:c.2638C>A, XM_024453085.1:c.2638C>A, XM_024453089.2:c.2602C>A, XM_024453089.1:c.2602C>A, XM_024453087.2:c.2602C>A, XM_024453087.1:c.2602C>A, XM_024453093.2:c.2251C>A, XM_024453093.1:c.2251C>A, XM_047445655.1:c.2602C>A, XM_024453092.2:c.2467C>A, XM_024453092.1:c.2467C>A, XM_047445652.1:c.2602C>A, XM_047445654.1:c.2602C>A, XM_047445656.1:c.2602C>A, XM_047445653.1:c.2602C>A, XM_024453088.2:c.2602C>A, XM_024453088.1:c.2602C>A, NP_000538.3:p.Gln912Lys, NP_783650.1:p.Gln855Lys, NP_783652.1:p.Gln868Lys, NP_783653.1:p.Gln739Lys, NP_001193673.1:p.Gln912Lys, NP_001193674.1:p.Gln855Lys, XP_024308858.1:p.Gln880Lys, XP_024308859.1:p.Gln867Lys, XP_024308853.1:p.Gln880Lys, XP_024308857.1:p.Gln868Lys, XP_024308855.1:p.Gln868Lys, XP_024308861.1:p.Gln751Lys, XP_047301611.1:p.Gln868Lys, XP_024308860.1:p.Gln823Lys, XP_047301608.1:p.Gln868Lys, XP_047301610.1:p.Gln868Lys, XP_047301612.1:p.Gln868Lys, XP_047301609.1:p.Gln868Lys, XP_024308856.1:p.Gln868Lys

                                        20.

                                        rs1477525296 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          2:1436329 (GRCh38)
                                          2:1440101 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:1436328:C:G,NC_000002.12:1436328:C:T
                                          Gene:
                                          TPO (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.1436329C>G, NC_000002.12:g.1436329C>T, NC_000002.11:g.1440101C>G, NC_000002.11:g.1440101C>T, NG_011581.1:g.27867C>G, NG_011581.1:g.27867C>T, NM_000547.6:c.427C>G, NM_000547.6:c.427C>T, NM_000547.5:c.427C>G, NM_000547.5:c.427C>T, NM_175719.4:c.427C>G, NM_175719.4:c.427C>T, NM_175719.3:c.427C>G, NM_175719.3:c.427C>T, NM_175721.3:c.427C>G, NM_175721.3:c.427C>T, NM_175722.3:c.427C>G, NM_175722.3:c.427C>T, NM_001206744.2:c.427C>G, NM_001206744.2:c.427C>T, NM_001206744.1:c.427C>G, NM_001206744.1:c.427C>T, NM_001206745.2:c.427C>G, NM_001206745.2:c.427C>T, NM_001206745.1:c.427C>G, NM_001206745.1:c.427C>T, NT_187529.1:g.119263C>G, NT_187529.1:g.119263C>T, XM_011510380.4:c.463C>G, XM_011510380.4:c.463C>T, XM_011510380.3:c.463C>G, XM_011510380.3:c.463C>T, XM_011510380.2:c.427C>G, XM_011510380.2:c.427C>T, XM_011510380.1:c.427C>G, XM_011510380.1:c.427C>T, XM_024453089.2:c.427C>G, XM_024453089.2:c.427C>T, XM_024453089.1:c.427C>G, XM_024453089.1:c.427C>T, XM_024453090.2:c.463C>G, XM_024453090.2:c.463C>T, XM_024453090.1:c.463C>G, XM_024453090.1:c.463C>T, XM_024453091.2:c.463C>G, XM_024453091.2:c.463C>T, XM_024453091.1:c.463C>G, XM_024453091.1:c.463C>T, XM_024453085.2:c.463C>G, XM_024453085.2:c.463C>T, XM_024453085.1:c.463C>G, XM_024453085.1:c.463C>T, XM_024453092.2:c.463C>G, XM_024453092.2:c.463C>T, XM_024453092.1:c.463C>G, XM_024453092.1:c.463C>T, XM_024453088.2:c.427C>G, XM_024453088.2:c.427C>T, XM_024453088.1:c.427C>G, XM_024453088.1:c.427C>T, XM_024453087.2:c.427C>G, XM_024453087.2:c.427C>T, XM_024453087.1:c.427C>G, XM_024453087.1:c.427C>T, XM_024453093.2:c.463C>G, XM_024453093.2:c.463C>T, XM_024453093.1:c.463C>G, XM_024453093.1:c.463C>T, XM_047445652.1:c.427C>G, XM_047445652.1:c.427C>T, XM_047445655.1:c.427C>G, XM_047445655.1:c.427C>T, XM_047445654.1:c.427C>G, XM_047445654.1:c.427C>T, XM_047445656.1:c.427C>G, XM_047445656.1:c.427C>T, XM_047445653.1:c.427C>G, XM_047445653.1:c.427C>T, XM_047445657.1:c.463C>G, XM_047445657.1:c.463C>T, NM_175720.1:c.427C>G, NM_175720.1:c.427C>T, NP_000538.3:p.Pro143Ala, NP_000538.3:p.Pro143Ser, NP_783650.1:p.Pro143Ala, NP_783650.1:p.Pro143Ser, NP_783652.1:p.Pro143Ala, NP_783652.1:p.Pro143Ser, NP_783653.1:p.Pro143Ala, NP_783653.1:p.Pro143Ser, NP_001193673.1:p.Pro143Ala, NP_001193673.1:p.Pro143Ser, NP_001193674.1:p.Pro143Ala, NP_001193674.1:p.Pro143Ser, XP_011508682.2:p.Pro155Ala, XP_011508682.2:p.Pro155Ser, XP_024308857.1:p.Pro143Ala, XP_024308857.1:p.Pro143Ser, XP_024308858.1:p.Pro155Ala, XP_024308858.1:p.Pro155Ser, XP_024308859.1:p.Pro155Ala, XP_024308859.1:p.Pro155Ser, XP_024308853.1:p.Pro155Ala, XP_024308853.1:p.Pro155Ser, XP_024308860.1:p.Pro155Ala, XP_024308860.1:p.Pro155Ser, XP_024308856.1:p.Pro143Ala, XP_024308856.1:p.Pro143Ser, XP_024308855.1:p.Pro143Ala, XP_024308855.1:p.Pro143Ser, XP_024308861.1:p.Pro155Ala, XP_024308861.1:p.Pro155Ser, XP_047301608.1:p.Pro143Ala, XP_047301608.1:p.Pro143Ser, XP_047301611.1:p.Pro143Ala, XP_047301611.1:p.Pro143Ser, XP_047301610.1:p.Pro143Ala, XP_047301610.1:p.Pro143Ser, XP_047301612.1:p.Pro143Ala, XP_047301612.1:p.Pro143Ser, XP_047301609.1:p.Pro143Ala, XP_047301609.1:p.Pro143Ser, XP_047301613.1:p.Pro155Ala, XP_047301613.1:p.Pro155Ser

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