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Items: 1 to 20 of 1000

1.

rs1489393442 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    11:129932192 (GRCh38)
    11:129802087 (GRCh37)
    Canonical SPDI:
    NC_000011.10:129932191:G:A,NC_000011.10:129932191:G:T
    Gene:
    PRDM10 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000011.10:g.129932192G>A, NC_000011.10:g.129932192G>T, NC_000011.9:g.129802087G>A, NC_000011.9:g.129802087G>T, NM_020228.3:c.1197C>T, NM_020228.3:c.1197C>A, NM_020228.2:c.1197C>T, NM_020228.2:c.1197C>A, XM_011542912.3:c.1197C>T, XM_011542912.3:c.1197C>A, XM_011542912.2:c.1197C>T, XM_011542912.2:c.1197C>A, XM_011542912.1:c.1197C>T, XM_011542912.1:c.1197C>A, NM_199437.2:c.1197C>T, NM_199437.2:c.1197C>A, NM_199437.1:c.1197C>T, NM_199437.1:c.1197C>A, NM_199438.2:c.939C>T, NM_199438.2:c.939C>A, NM_199438.1:c.939C>T, NM_199438.1:c.939C>A, NM_199439.2:c.939C>T, NM_199439.2:c.939C>A, NM_199439.1:c.939C>T, NM_199439.1:c.939C>A, NM_001367893.1:c.1197C>T, NM_001367893.1:c.1197C>A, NM_001367892.1:c.1131C>T, NM_001367892.1:c.1131C>A, NM_001367891.1:c.1137C>T, NM_001367891.1:c.1137C>A, XM_047427311.1:c.1197C>T, XM_047427311.1:c.1197C>A, XM_047427312.1:c.1197C>T, XM_047427312.1:c.1197C>A, NM_001367899.1:c.939C>T, NM_001367899.1:c.939C>A, NM_001367898.1:c.939C>T, NM_001367898.1:c.939C>A, NM_001367890.1:c.1197C>T, NM_001367890.1:c.1197C>A, NM_001367894.1:c.1197C>T, NM_001367894.1:c.1197C>A, NM_001367897.1:c.348C>T, NM_001367897.1:c.348C>A, NM_001367896.1:c.348C>T, NM_001367896.1:c.348C>A, NM_001367895.1:c.348C>T, NM_001367895.1:c.348C>A, NP_064613.2:p.Phe399Leu, XP_011541214.1:p.Phe399Leu, NP_955469.1:p.Phe399Leu, NP_955470.1:p.Phe313Leu, NP_955471.1:p.Phe313Leu, NP_001354822.1:p.Phe399Leu, NP_001354821.1:p.Phe377Leu, NP_001354820.1:p.Phe379Leu, XP_047283267.1:p.Phe399Leu, XP_047283268.1:p.Phe399Leu, NP_001354828.1:p.Phe313Leu, NP_001354827.1:p.Phe313Leu, NP_001354819.1:p.Phe399Leu, NP_001354823.1:p.Phe399Leu, NP_001354826.1:p.Phe116Leu, NP_001354825.1:p.Phe116Leu, NP_001354824.1:p.Phe116Leu

    2.

    rs1489281579 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:129944861 (GRCh38)
      11:129814756 (GRCh37)
      Canonical SPDI:
      NC_000011.10:129944860:C:T
      Gene:
      PRDM10 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1488840350 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:129914794 (GRCh38)
        11:129784689 (GRCh37)
        Canonical SPDI:
        NC_000011.10:129914793:G:A
        Gene:
        PRDM10 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1488188254 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          11:129912125 (GRCh38)
          11:129782020 (GRCh37)
          Canonical SPDI:
          NC_000011.10:129912124:T:C
          Gene:
          PRDM10 (Varview)
          Functional Consequence:
          missense_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_000011.10:g.129912125T>C, NC_000011.9:g.129782020T>C, NM_020228.3:c.2954A>G, NM_020228.2:c.2954A>G, XM_011542912.3:c.2942A>G, XM_011542912.2:c.2942A>G, XM_011542912.1:c.2942A>G, NM_199437.2:c.2942A>G, NM_199437.1:c.2942A>G, NM_199438.2:c.2696A>G, NM_199438.1:c.2696A>G, NM_001367893.1:c.2954A>G, NM_001367892.1:c.2888A>G, NM_001367891.1:c.2882A>G, NM_001367899.1:c.2696A>G, NM_001367898.1:c.2684A>G, NM_001367890.1:c.2594A>G, NM_001367894.1:c.2594A>G, NM_001367897.1:c.2105A>G, NM_001367896.1:c.2093A>G, NM_001367895.1:c.2093A>G, NP_064613.2:p.Gln985Arg, XP_011541214.1:p.Gln981Arg, NP_955469.1:p.Gln981Arg, NP_955470.1:p.Gln899Arg, NP_001354822.1:p.Gln985Arg, NP_001354821.1:p.Gln963Arg, NP_001354820.1:p.Gln961Arg, NP_001354828.1:p.Gln899Arg, NP_001354827.1:p.Gln895Arg, NP_001354819.1:p.Gln865Arg, NP_001354823.1:p.Gln865Arg, NP_001354826.1:p.Gln702Arg, NP_001354825.1:p.Gln698Arg, NP_001354824.1:p.Gln698Arg

          5.

          rs1487085942 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:129944892 (GRCh38)
            11:129814787 (GRCh37)
            Canonical SPDI:
            NC_000011.10:129944891:A:G
            Gene:
            PRDM10 (Varview)
            Functional Consequence:
            missense_variant,5_prime_UTR_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_000011.10:g.129944892A>G, NC_000011.9:g.129814787A>G, NM_020228.3:c.641T>C, NM_020228.2:c.641T>C, XM_011542912.3:c.641T>C, XM_011542912.2:c.641T>C, XM_011542912.1:c.641T>C, NM_199437.2:c.641T>C, NM_199437.1:c.641T>C, NM_199438.2:c.383T>C, NM_199438.1:c.383T>C, NM_199439.2:c.383T>C, NM_199439.1:c.383T>C, NM_001367893.1:c.641T>C, NM_001367892.1:c.575T>C, NM_001367891.1:c.581T>C, XM_047427311.1:c.641T>C, XM_047427312.1:c.641T>C, NM_001367899.1:c.383T>C, NM_001367898.1:c.383T>C, NM_001367890.1:c.641T>C, NM_001367894.1:c.641T>C, NM_001367897.1:c.-209T>C, NM_001367896.1:c.-209T>C, NM_001367895.1:c.-209T>C, NP_064613.2:p.Ile214Thr, XP_011541214.1:p.Ile214Thr, NP_955469.1:p.Ile214Thr, NP_955470.1:p.Ile128Thr, NP_955471.1:p.Ile128Thr, NP_001354822.1:p.Ile214Thr, NP_001354821.1:p.Ile192Thr, NP_001354820.1:p.Ile194Thr, XP_047283267.1:p.Ile214Thr, XP_047283268.1:p.Ile214Thr, NP_001354828.1:p.Ile128Thr, NP_001354827.1:p.Ile128Thr, NP_001354819.1:p.Ile214Thr, NP_001354823.1:p.Ile214Thr

            6.

            rs1486661396 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              11:129942513 (GRCh38)
              11:129812408 (GRCh37)
              Canonical SPDI:
              NC_000011.10:129942512:G:A,NC_000011.10:129942512:G:T
              Gene:
              PRDM10 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,synonymous_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              NC_000011.10:g.129942513G>A, NC_000011.10:g.129942513G>T, NC_000011.9:g.129812408G>A, NC_000011.9:g.129812408G>T, NM_020228.3:c.879C>T, NM_020228.3:c.879C>A, NM_020228.2:c.879C>T, NM_020228.2:c.879C>A, XM_011542912.3:c.879C>T, XM_011542912.3:c.879C>A, XM_011542912.2:c.879C>T, XM_011542912.2:c.879C>A, XM_011542912.1:c.879C>T, XM_011542912.1:c.879C>A, NM_199437.2:c.879C>T, NM_199437.2:c.879C>A, NM_199437.1:c.879C>T, NM_199437.1:c.879C>A, NM_199438.2:c.621C>T, NM_199438.2:c.621C>A, NM_199438.1:c.621C>T, NM_199438.1:c.621C>A, NM_199439.2:c.621C>T, NM_199439.2:c.621C>A, NM_199439.1:c.621C>T, NM_199439.1:c.621C>A, NM_001367893.1:c.879C>T, NM_001367893.1:c.879C>A, NM_001367892.1:c.813C>T, NM_001367892.1:c.813C>A, NM_001367891.1:c.819C>T, NM_001367891.1:c.819C>A, XM_047427311.1:c.879C>T, XM_047427311.1:c.879C>A, XM_047427312.1:c.879C>T, XM_047427312.1:c.879C>A, NM_001367899.1:c.621C>T, NM_001367899.1:c.621C>A, NM_001367898.1:c.621C>T, NM_001367898.1:c.621C>A, NM_001367890.1:c.879C>T, NM_001367890.1:c.879C>A, NM_001367894.1:c.879C>T, NM_001367894.1:c.879C>A, NM_001367897.1:c.30C>T, NM_001367897.1:c.30C>A, NM_001367896.1:c.30C>T, NM_001367896.1:c.30C>A, NM_001367895.1:c.30C>T, NM_001367895.1:c.30C>A, NP_064613.2:p.His293Gln, XP_011541214.1:p.His293Gln, NP_955469.1:p.His293Gln, NP_955470.1:p.His207Gln, NP_955471.1:p.His207Gln, NP_001354822.1:p.His293Gln, NP_001354821.1:p.His271Gln, NP_001354820.1:p.His273Gln, XP_047283267.1:p.His293Gln, XP_047283268.1:p.His293Gln, NP_001354828.1:p.His207Gln, NP_001354827.1:p.His207Gln, NP_001354819.1:p.His293Gln, NP_001354823.1:p.His293Gln, NP_001354826.1:p.His10Gln, NP_001354825.1:p.His10Gln, NP_001354824.1:p.His10Gln

              7.

              rs1486222419 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:129918598 (GRCh38)
                11:129788493 (GRCh37)
                Canonical SPDI:
                NC_000011.10:129918597:C:T
                Gene:
                PRDM10 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.129918598C>T, NC_000011.9:g.129788493C>T, NM_020228.3:c.2167G>A, NM_020228.2:c.2167G>A, XM_011542912.3:c.2155G>A, XM_011542912.2:c.2155G>A, XM_011542912.1:c.2155G>A, NM_199437.2:c.2155G>A, NM_199437.1:c.2155G>A, NM_199438.2:c.1909G>A, NM_199438.1:c.1909G>A, NM_199439.2:c.1897G>A, NM_199439.1:c.1897G>A, NM_001367893.1:c.2167G>A, NM_001367892.1:c.2101G>A, NM_001367891.1:c.2095G>A, XM_047427311.1:c.2167G>A, XM_047427312.1:c.2155G>A, NM_001367899.1:c.1909G>A, NM_001367898.1:c.1897G>A, NM_001367890.1:c.1807G>A, NM_001367894.1:c.1807G>A, NM_001367897.1:c.1318G>A, NM_001367896.1:c.1306G>A, NM_001367895.1:c.1306G>A, NP_064613.2:p.Asp723Asn, XP_011541214.1:p.Asp719Asn, NP_955469.1:p.Asp719Asn, NP_955470.1:p.Asp637Asn, NP_955471.1:p.Asp633Asn, NP_001354822.1:p.Asp723Asn, NP_001354821.1:p.Asp701Asn, NP_001354820.1:p.Asp699Asn, XP_047283267.1:p.Asp723Asn, XP_047283268.1:p.Asp719Asn, NP_001354828.1:p.Asp637Asn, NP_001354827.1:p.Asp633Asn, NP_001354819.1:p.Asp603Asn, NP_001354823.1:p.Asp603Asn, NP_001354826.1:p.Asp440Asn, NP_001354825.1:p.Asp436Asn, NP_001354824.1:p.Asp436Asn

                8.

                rs1485415176 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  11:129923339 (GRCh38)
                  11:129793234 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:129923338:G:A
                  Gene:
                  PRDM10 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  HGVS:
                  NC_000011.10:g.129923339G>A, NC_000011.9:g.129793234G>A, NM_020228.3:c.1955C>T, NM_020228.2:c.1955C>T, XM_011542912.3:c.1943C>T, XM_011542912.2:c.1943C>T, XM_011542912.1:c.1943C>T, NM_199437.2:c.1943C>T, NM_199437.1:c.1943C>T, NM_199438.2:c.1697C>T, NM_199438.1:c.1697C>T, NM_199439.2:c.1685C>T, NM_199439.1:c.1685C>T, NM_001367893.1:c.1955C>T, NM_001367892.1:c.1889C>T, NM_001367891.1:c.1883C>T, XM_047427311.1:c.1955C>T, XM_047427312.1:c.1943C>T, NM_001367899.1:c.1697C>T, NM_001367898.1:c.1685C>T, NM_001367890.1:c.1595C>T, NM_001367894.1:c.1595C>T, NM_001367897.1:c.1106C>T, NM_001367896.1:c.1094C>T, NM_001367895.1:c.1094C>T, NP_064613.2:p.Ala652Val, XP_011541214.1:p.Ala648Val, NP_955469.1:p.Ala648Val, NP_955470.1:p.Ala566Val, NP_955471.1:p.Ala562Val, NP_001354822.1:p.Ala652Val, NP_001354821.1:p.Ala630Val, NP_001354820.1:p.Ala628Val, XP_047283267.1:p.Ala652Val, XP_047283268.1:p.Ala648Val, NP_001354828.1:p.Ala566Val, NP_001354827.1:p.Ala562Val, NP_001354819.1:p.Ala532Val, NP_001354823.1:p.Ala532Val, NP_001354826.1:p.Ala369Val, NP_001354825.1:p.Ala365Val, NP_001354824.1:p.Ala365Val

                  9.

                  rs1485041842 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:129932125 (GRCh38)
                    11:129802020 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:129932124:C:T
                    Gene:
                    PRDM10 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.129932125C>T, NC_000011.9:g.129802020C>T, NM_020228.3:c.1264G>A, NM_020228.2:c.1264G>A, XM_011542912.3:c.1264G>A, XM_011542912.2:c.1264G>A, XM_011542912.1:c.1264G>A, NM_199437.2:c.1264G>A, NM_199437.1:c.1264G>A, NM_199438.2:c.1006G>A, NM_199438.1:c.1006G>A, NM_199439.2:c.1006G>A, NM_199439.1:c.1006G>A, NM_001367893.1:c.1264G>A, NM_001367892.1:c.1198G>A, NM_001367891.1:c.1204G>A, XM_047427311.1:c.1264G>A, XM_047427312.1:c.1264G>A, NM_001367899.1:c.1006G>A, NM_001367898.1:c.1006G>A, NM_001367890.1:c.1264G>A, NM_001367894.1:c.1264G>A, NM_001367897.1:c.415G>A, NM_001367896.1:c.415G>A, NM_001367895.1:c.415G>A, NP_064613.2:p.Glu422Lys, XP_011541214.1:p.Glu422Lys, NP_955469.1:p.Glu422Lys, NP_955470.1:p.Glu336Lys, NP_955471.1:p.Glu336Lys, NP_001354822.1:p.Glu422Lys, NP_001354821.1:p.Glu400Lys, NP_001354820.1:p.Glu402Lys, XP_047283267.1:p.Glu422Lys, XP_047283268.1:p.Glu422Lys, NP_001354828.1:p.Glu336Lys, NP_001354827.1:p.Glu336Lys, NP_001354819.1:p.Glu422Lys, NP_001354823.1:p.Glu422Lys, NP_001354826.1:p.Glu139Lys, NP_001354825.1:p.Glu139Lys, NP_001354824.1:p.Glu139Lys

                    10.

                    rs1484550829 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:129942530 (GRCh38)
                      11:129812425 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:129942529:G:A
                      Gene:
                      PRDM10 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000111/1 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000011.10:g.129942530G>A, NC_000011.9:g.129812425G>A, NM_020228.3:c.862C>T, NM_020228.2:c.862C>T, XM_011542912.3:c.862C>T, XM_011542912.2:c.862C>T, XM_011542912.1:c.862C>T, NM_199437.2:c.862C>T, NM_199437.1:c.862C>T, NM_199438.2:c.604C>T, NM_199438.1:c.604C>T, NM_199439.2:c.604C>T, NM_199439.1:c.604C>T, NM_001367893.1:c.862C>T, NM_001367892.1:c.796C>T, NM_001367891.1:c.802C>T, XM_047427311.1:c.862C>T, XM_047427312.1:c.862C>T, NM_001367899.1:c.604C>T, NM_001367898.1:c.604C>T, NM_001367890.1:c.862C>T, NM_001367894.1:c.862C>T, NM_001367897.1:c.13C>T, NM_001367896.1:c.13C>T, NM_001367895.1:c.13C>T, NP_064613.2:p.Arg288Trp, XP_011541214.1:p.Arg288Trp, NP_955469.1:p.Arg288Trp, NP_955470.1:p.Arg202Trp, NP_955471.1:p.Arg202Trp, NP_001354822.1:p.Arg288Trp, NP_001354821.1:p.Arg266Trp, NP_001354820.1:p.Arg268Trp, XP_047283267.1:p.Arg288Trp, XP_047283268.1:p.Arg288Trp, NP_001354828.1:p.Arg202Trp, NP_001354827.1:p.Arg202Trp, NP_001354819.1:p.Arg288Trp, NP_001354823.1:p.Arg288Trp, NP_001354826.1:p.Arg5Trp, NP_001354825.1:p.Arg5Trp, NP_001354824.1:p.Arg5Trp

                      11.

                      rs1484405032 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        11:129931160 (GRCh38)
                        11:129801055 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:129931159:A:G
                        Gene:
                        PRDM10 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.0016/3 (Korea1K)
                        HGVS:

                        12.

                        rs1484112394 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:129914996 (GRCh38)
                          11:129784891 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:129914995:C:T
                          Gene:
                          PRDM10 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000015/4 (TOPMED)
                          HGVS:
                          NC_000011.10:g.129914996C>T, NC_000011.9:g.129784891C>T, NM_020228.3:c.2561G>A, NM_020228.2:c.2561G>A, XM_011542912.3:c.2549G>A, XM_011542912.2:c.2549G>A, XM_011542912.1:c.2549G>A, NM_199437.2:c.2549G>A, NM_199437.1:c.2549G>A, NM_199438.2:c.2303G>A, NM_199438.1:c.2303G>A, NM_199439.2:c.2291G>A, NM_199439.1:c.2291G>A, NM_001367893.1:c.2561G>A, NM_001367892.1:c.2495G>A, NM_001367891.1:c.2489G>A, XM_047427311.1:c.2561G>A, XM_047427312.1:c.2549G>A, NM_001367899.1:c.2303G>A, NM_001367898.1:c.2291G>A, NM_001367890.1:c.2201G>A, NM_001367894.1:c.2201G>A, NM_001367897.1:c.1712G>A, NM_001367896.1:c.1700G>A, NM_001367895.1:c.1700G>A, NP_064613.2:p.Arg854Gln, XP_011541214.1:p.Arg850Gln, NP_955469.1:p.Arg850Gln, NP_955470.1:p.Arg768Gln, NP_955471.1:p.Arg764Gln, NP_001354822.1:p.Arg854Gln, NP_001354821.1:p.Arg832Gln, NP_001354820.1:p.Arg830Gln, XP_047283267.1:p.Arg854Gln, XP_047283268.1:p.Arg850Gln, NP_001354828.1:p.Arg768Gln, NP_001354827.1:p.Arg764Gln, NP_001354819.1:p.Arg734Gln, NP_001354823.1:p.Arg734Gln, NP_001354826.1:p.Arg571Gln, NP_001354825.1:p.Arg567Gln, NP_001354824.1:p.Arg567Gln

                          13.

                          rs1484005099 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            11:129931235 (GRCh38)
                            11:129801130 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:129931234:C:G,NC_000011.10:129931234:C:T
                            Gene:
                            PRDM10 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000011.10:g.129931235C>G, NC_000011.10:g.129931235C>T, NC_000011.9:g.129801130C>G, NC_000011.9:g.129801130C>T, NM_020228.3:c.1311G>C, NM_020228.3:c.1311G>A, NM_020228.2:c.1311G>C, NM_020228.2:c.1311G>A, XM_011542912.3:c.1311G>C, XM_011542912.3:c.1311G>A, XM_011542912.2:c.1311G>C, XM_011542912.2:c.1311G>A, XM_011542912.1:c.1311G>C, XM_011542912.1:c.1311G>A, NM_199437.2:c.1311G>C, NM_199437.2:c.1311G>A, NM_199437.1:c.1311G>C, NM_199437.1:c.1311G>A, NM_199438.2:c.1053G>C, NM_199438.2:c.1053G>A, NM_199438.1:c.1053G>C, NM_199438.1:c.1053G>A, NM_199439.2:c.1053G>C, NM_199439.2:c.1053G>A, NM_199439.1:c.1053G>C, NM_199439.1:c.1053G>A, NM_001367893.1:c.1311G>C, NM_001367893.1:c.1311G>A, NM_001367892.1:c.1245G>C, NM_001367892.1:c.1245G>A, NM_001367891.1:c.1251G>C, NM_001367891.1:c.1251G>A, XM_047427311.1:c.1311G>C, XM_047427311.1:c.1311G>A, XM_047427312.1:c.1311G>C, XM_047427312.1:c.1311G>A, NM_001367899.1:c.1053G>C, NM_001367899.1:c.1053G>A, NM_001367898.1:c.1053G>C, NM_001367898.1:c.1053G>A, NM_001367890.1:c.1311G>C, NM_001367890.1:c.1311G>A, NM_001367894.1:c.1311G>C, NM_001367894.1:c.1311G>A, NM_001367897.1:c.462G>C, NM_001367897.1:c.462G>A, NM_001367896.1:c.462G>C, NM_001367896.1:c.462G>A, NM_001367895.1:c.462G>C, NM_001367895.1:c.462G>A, NP_064613.2:p.Lys437Asn, XP_011541214.1:p.Lys437Asn, NP_955469.1:p.Lys437Asn, NP_955470.1:p.Lys351Asn, NP_955471.1:p.Lys351Asn, NP_001354822.1:p.Lys437Asn, NP_001354821.1:p.Lys415Asn, NP_001354820.1:p.Lys417Asn, XP_047283267.1:p.Lys437Asn, XP_047283268.1:p.Lys437Asn, NP_001354828.1:p.Lys351Asn, NP_001354827.1:p.Lys351Asn, NP_001354819.1:p.Lys437Asn, NP_001354823.1:p.Lys437Asn, NP_001354826.1:p.Lys154Asn, NP_001354825.1:p.Lys154Asn, NP_001354824.1:p.Lys154Asn

                            14.

                            rs1482763514 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:129918602 (GRCh38)
                              11:129788497 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:129918601:G:A
                              Gene:
                              PRDM10 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1482144288 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:129915739 (GRCh38)
                                11:129785634 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:129915738:C:T
                                Gene:
                                PRDM10 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.129915739C>T, NC_000011.9:g.129785634C>T, NM_020228.3:c.2459G>A, NM_020228.2:c.2459G>A, XM_011542912.3:c.2447G>A, XM_011542912.2:c.2447G>A, XM_011542912.1:c.2447G>A, NM_199437.2:c.2447G>A, NM_199437.1:c.2447G>A, NM_199438.2:c.2201G>A, NM_199438.1:c.2201G>A, NM_199439.2:c.2189G>A, NM_199439.1:c.2189G>A, NM_001367893.1:c.2459G>A, NM_001367892.1:c.2393G>A, NM_001367891.1:c.2387G>A, XM_047427311.1:c.2459G>A, XM_047427312.1:c.2447G>A, NM_001367899.1:c.2201G>A, NM_001367898.1:c.2189G>A, NM_001367890.1:c.2099G>A, NM_001367894.1:c.2099G>A, NM_001367897.1:c.1610G>A, NM_001367896.1:c.1598G>A, NM_001367895.1:c.1598G>A, NP_064613.2:p.Ser820Asn, XP_011541214.1:p.Ser816Asn, NP_955469.1:p.Ser816Asn, NP_955470.1:p.Ser734Asn, NP_955471.1:p.Ser730Asn, NP_001354822.1:p.Ser820Asn, NP_001354821.1:p.Ser798Asn, NP_001354820.1:p.Ser796Asn, XP_047283267.1:p.Ser820Asn, XP_047283268.1:p.Ser816Asn, NP_001354828.1:p.Ser734Asn, NP_001354827.1:p.Ser730Asn, NP_001354819.1:p.Ser700Asn, NP_001354823.1:p.Ser700Asn, NP_001354826.1:p.Ser537Asn, NP_001354825.1:p.Ser533Asn, NP_001354824.1:p.Ser533Asn

                                16.

                                rs1480933689 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  11:129914952 (GRCh38)
                                  11:129784847 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:129914951:T:C
                                  Gene:
                                  PRDM10 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.129914952T>C, NC_000011.9:g.129784847T>C, NM_020228.3:c.2605A>G, NM_020228.2:c.2605A>G, XM_011542912.3:c.2593A>G, XM_011542912.2:c.2593A>G, XM_011542912.1:c.2593A>G, NM_199437.2:c.2593A>G, NM_199437.1:c.2593A>G, NM_199438.2:c.2347A>G, NM_199438.1:c.2347A>G, NM_199439.2:c.2335A>G, NM_199439.1:c.2335A>G, NM_001367893.1:c.2605A>G, NM_001367892.1:c.2539A>G, NM_001367891.1:c.2533A>G, XM_047427311.1:c.2605A>G, XM_047427312.1:c.2593A>G, NM_001367899.1:c.2347A>G, NM_001367898.1:c.2335A>G, NM_001367890.1:c.2245A>G, NM_001367894.1:c.2245A>G, NM_001367897.1:c.1756A>G, NM_001367896.1:c.1744A>G, NM_001367895.1:c.1744A>G, NP_064613.2:p.Thr869Ala, XP_011541214.1:p.Thr865Ala, NP_955469.1:p.Thr865Ala, NP_955470.1:p.Thr783Ala, NP_955471.1:p.Thr779Ala, NP_001354822.1:p.Thr869Ala, NP_001354821.1:p.Thr847Ala, NP_001354820.1:p.Thr845Ala, XP_047283267.1:p.Thr869Ala, XP_047283268.1:p.Thr865Ala, NP_001354828.1:p.Thr783Ala, NP_001354827.1:p.Thr779Ala, NP_001354819.1:p.Thr749Ala, NP_001354823.1:p.Thr749Ala, NP_001354826.1:p.Thr586Ala, NP_001354825.1:p.Thr582Ala, NP_001354824.1:p.Thr582Ala

                                  17.

                                  rs1480096774 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:129925201 (GRCh38)
                                    11:129795096 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:129925200:C:T
                                    Gene:
                                    PRDM10 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000106/2 (TOMMO)
                                    HGVS:
                                    NC_000011.10:g.129925201C>T, NC_000011.9:g.129795096C>T, NM_020228.3:c.1571G>A, NM_020228.2:c.1571G>A, XM_011542912.3:c.1559G>A, XM_011542912.2:c.1559G>A, XM_011542912.1:c.1559G>A, NM_199437.2:c.1559G>A, NM_199437.1:c.1559G>A, NM_199438.2:c.1313G>A, NM_199438.1:c.1313G>A, NM_199439.2:c.1301G>A, NM_199439.1:c.1301G>A, NM_001367893.1:c.1571G>A, NM_001367892.1:c.1505G>A, NM_001367891.1:c.1499G>A, XM_047427311.1:c.1571G>A, XM_047427312.1:c.1559G>A, NM_001367899.1:c.1313G>A, NM_001367898.1:c.1301G>A, NM_001367897.1:c.722G>A, NM_001367896.1:c.710G>A, NM_001367895.1:c.710G>A, NP_064613.2:p.Arg524Gln, XP_011541214.1:p.Arg520Gln, NP_955469.1:p.Arg520Gln, NP_955470.1:p.Arg438Gln, NP_955471.1:p.Arg434Gln, NP_001354822.1:p.Arg524Gln, NP_001354821.1:p.Arg502Gln, NP_001354820.1:p.Arg500Gln, XP_047283267.1:p.Arg524Gln, XP_047283268.1:p.Arg520Gln, NP_001354828.1:p.Arg438Gln, NP_001354827.1:p.Arg434Gln, NP_001354826.1:p.Arg241Gln, NP_001354825.1:p.Arg237Gln, NP_001354824.1:p.Arg237Gln

                                    18.

                                    rs1479541173 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:129910655 (GRCh38)
                                      11:129780550 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:129910654:A:G
                                      Gene:
                                      PRDM10 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000011.10:g.129910655A>G, NC_000011.9:g.129780550A>G, NM_020228.3:c.2996T>C, NM_020228.2:c.2996T>C, XM_011542912.3:c.2945T>C, XM_011542912.2:c.2945T>C, XM_011542912.1:c.2945T>C, NM_199437.2:c.2984T>C, NM_199437.1:c.2984T>C, NM_199438.2:c.2699T>C, NM_199438.1:c.2699T>C, NM_199439.2:c.2585T>C, NM_199439.1:c.2585T>C, NM_001367893.1:c.2957T>C, NM_001367892.1:c.2930T>C, NM_001367891.1:c.2924T>C, XM_047427311.1:c.2855T>C, XM_047427312.1:c.2843T>C, NM_001367899.1:c.2738T>C, NM_001367898.1:c.2726T>C, NM_001367890.1:c.2636T>C, NM_001367894.1:c.2597T>C, NM_001367897.1:c.2147T>C, NM_001367896.1:c.2135T>C, NM_001367895.1:c.2096T>C, NP_064613.2:p.Val999Ala, XP_011541214.1:p.Val982Ala, NP_955469.1:p.Val995Ala, NP_955470.1:p.Val900Ala, NP_955471.1:p.Val862Ala, NP_001354822.1:p.Val986Ala, NP_001354821.1:p.Val977Ala, NP_001354820.1:p.Val975Ala, XP_047283267.1:p.Val952Ala, XP_047283268.1:p.Val948Ala, NP_001354828.1:p.Val913Ala, NP_001354827.1:p.Val909Ala, NP_001354819.1:p.Val879Ala, NP_001354823.1:p.Val866Ala, NP_001354826.1:p.Val716Ala, NP_001354825.1:p.Val712Ala, NP_001354824.1:p.Val699Ala

                                      19.

                                      rs1478127212 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        11:129944793 (GRCh38)
                                        11:129814688 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:129944792:T:G
                                        Gene:
                                        PRDM10 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.129944793T>G, NC_000011.9:g.129814688T>G, NM_020228.3:c.740A>C, NM_020228.2:c.740A>C, XM_011542912.3:c.740A>C, XM_011542912.2:c.740A>C, XM_011542912.1:c.740A>C, NM_199437.2:c.740A>C, NM_199437.1:c.740A>C, NM_199438.2:c.482A>C, NM_199438.1:c.482A>C, NM_199439.2:c.482A>C, NM_199439.1:c.482A>C, NM_001367893.1:c.740A>C, NM_001367892.1:c.674A>C, NM_001367891.1:c.680A>C, XM_047427311.1:c.740A>C, XM_047427312.1:c.740A>C, NM_001367899.1:c.482A>C, NM_001367898.1:c.482A>C, NM_001367890.1:c.740A>C, NM_001367894.1:c.740A>C, NM_001367897.1:c.-110A>C, NM_001367896.1:c.-110A>C, NM_001367895.1:c.-110A>C, NP_064613.2:p.Lys247Thr, XP_011541214.1:p.Lys247Thr, NP_955469.1:p.Lys247Thr, NP_955470.1:p.Lys161Thr, NP_955471.1:p.Lys161Thr, NP_001354822.1:p.Lys247Thr, NP_001354821.1:p.Lys225Thr, NP_001354820.1:p.Lys227Thr, XP_047283267.1:p.Lys247Thr, XP_047283268.1:p.Lys247Thr, NP_001354828.1:p.Lys161Thr, NP_001354827.1:p.Lys161Thr, NP_001354819.1:p.Lys247Thr, NP_001354823.1:p.Lys247Thr

                                        20.

                                        rs1476558551 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:129944847 (GRCh38)
                                          11:129814742 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:129944846:T:C
                                          Gene:
                                          PRDM10 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.129944847T>C, NC_000011.9:g.129814742T>C, NM_020228.3:c.686A>G, NM_020228.2:c.686A>G, XM_011542912.3:c.686A>G, XM_011542912.2:c.686A>G, XM_011542912.1:c.686A>G, NM_199437.2:c.686A>G, NM_199437.1:c.686A>G, NM_199438.2:c.428A>G, NM_199438.1:c.428A>G, NM_199439.2:c.428A>G, NM_199439.1:c.428A>G, NM_001367893.1:c.686A>G, NM_001367892.1:c.620A>G, NM_001367891.1:c.626A>G, XM_047427311.1:c.686A>G, XM_047427312.1:c.686A>G, NM_001367899.1:c.428A>G, NM_001367898.1:c.428A>G, NM_001367890.1:c.686A>G, NM_001367894.1:c.686A>G, NM_001367897.1:c.-164A>G, NM_001367896.1:c.-164A>G, NM_001367895.1:c.-164A>G, NP_064613.2:p.Lys229Arg, XP_011541214.1:p.Lys229Arg, NP_955469.1:p.Lys229Arg, NP_955470.1:p.Lys143Arg, NP_955471.1:p.Lys143Arg, NP_001354822.1:p.Lys229Arg, NP_001354821.1:p.Lys207Arg, NP_001354820.1:p.Lys209Arg, XP_047283267.1:p.Lys229Arg, XP_047283268.1:p.Lys229Arg, NP_001354828.1:p.Lys143Arg, NP_001354827.1:p.Lys143Arg, NP_001354819.1:p.Lys229Arg, NP_001354823.1:p.Lys229Arg

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