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Items: 1 to 20 of 456

1.

rs1489719337 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    5:132862162 (GRCh38)
    5:132197854 (GRCh37)
    Canonical SPDI:
    NC_000005.10:132862161:G:C
    Gene:
    GDF9 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_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_000005.10:g.132862162G>C, NC_000005.9:g.132197854G>C, NG_047051.1:g.9723C>G, NM_005260.7:c.792C>G, NM_005260.6:c.792C>G, NM_005260.5:c.792C>G, NM_005260.4:c.792C>G, NM_005260.3:c.792C>G, NM_001288825.4:c.528C>G, NM_001288825.3:c.528C>G, NM_001288825.2:c.528C>G, NM_001288825.1:c.528C>G, NM_001288824.4:c.528C>G, NM_001288824.3:c.528C>G, NM_001288824.2:c.528C>G, NM_001288824.1:c.528C>G, NM_001288826.3:c.528C>G, NM_001288826.2:c.528C>G, NM_001288826.1:c.528C>G, NM_001288827.3:c.528C>G, NM_001288827.2:c.528C>G, NM_001288827.1:c.528C>G, NM_001288828.3:c.528C>G, NM_001288828.2:c.528C>G, NM_001288828.1:c.528C>G, NG_012221.1:g.536G>C, XM_005271957.6:c.528C>G, XM_005271957.5:c.528C>G, XM_005271957.4:c.528C>G, XM_005271957.3:c.528C>G, XM_005271957.2:c.528C>G, XM_005271957.1:c.528C>G, XM_011543308.4:c.792C>G, XM_011543308.3:c.792C>G, XM_011543308.2:c.792C>G, XM_011543308.1:c.792C>G, XM_011543311.4:c.258C>G, XM_011543311.3:c.258C>G, XM_011543311.2:c.258C>G, XM_011543311.1:c.258C>G, XM_011543309.2:c.528C>G, XM_011543309.1:c.528C>G, XM_011543310.2:c.528C>G, XM_011543310.1:c.528C>G, XM_047417094.1:c.792C>G, NP_005251.1:p.Ile264Met, NP_001275754.1:p.Ile176Met, NP_001275753.1:p.Ile176Met, NP_001275755.1:p.Ile176Met, NP_001275756.1:p.Ile176Met, NP_001275757.1:p.Ile176Met, XP_005272014.1:p.Ile176Met, XP_011541610.1:p.Ile264Met, XP_011541613.1:p.Ile86Met, XP_011541611.1:p.Ile176Met, XP_011541612.1:p.Ile176Met, XP_047273050.1:p.Ile264Met

    2.

    rs1486961720 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      5:132862014 (GRCh38)
      5:132197706 (GRCh37)
      Canonical SPDI:
      NC_000005.10:132862013:G:A,NC_000005.10:132862013:G:T
      Gene:
      GDF9 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      T=0.00006/1 (TOMMO)
      HGVS:
      NC_000005.10:g.132862014G>A, NC_000005.10:g.132862014G>T, NC_000005.9:g.132197706G>A, NC_000005.9:g.132197706G>T, NG_047051.1:g.9871C>T, NG_047051.1:g.9871C>A, NM_005260.7:c.940C>T, NM_005260.7:c.940C>A, NM_005260.6:c.940C>T, NM_005260.6:c.940C>A, NM_005260.5:c.940C>T, NM_005260.5:c.940C>A, NM_005260.4:c.940C>T, NM_005260.4:c.940C>A, NM_005260.3:c.940C>T, NM_005260.3:c.940C>A, NM_001288825.4:c.676C>T, NM_001288825.4:c.676C>A, NM_001288825.3:c.676C>T, NM_001288825.3:c.676C>A, NM_001288825.2:c.676C>T, NM_001288825.2:c.676C>A, NM_001288825.1:c.676C>T, NM_001288825.1:c.676C>A, NM_001288824.4:c.676C>T, NM_001288824.4:c.676C>A, NM_001288824.3:c.676C>T, NM_001288824.3:c.676C>A, NM_001288824.2:c.676C>T, NM_001288824.2:c.676C>A, NM_001288824.1:c.676C>T, NM_001288824.1:c.676C>A, NM_001288826.3:c.676C>T, NM_001288826.3:c.676C>A, NM_001288826.2:c.676C>T, NM_001288826.2:c.676C>A, NM_001288826.1:c.676C>T, NM_001288826.1:c.676C>A, NM_001288827.3:c.676C>T, NM_001288827.3:c.676C>A, NM_001288827.2:c.676C>T, NM_001288827.2:c.676C>A, NM_001288827.1:c.676C>T, NM_001288827.1:c.676C>A, NM_001288828.3:c.676C>T, NM_001288828.3:c.676C>A, NM_001288828.2:c.676C>T, NM_001288828.2:c.676C>A, NM_001288828.1:c.676C>T, NM_001288828.1:c.676C>A, NG_012221.1:g.388G>A, NG_012221.1:g.388G>T, XM_005271957.6:c.676C>T, XM_005271957.6:c.676C>A, XM_005271957.5:c.676C>T, XM_005271957.5:c.676C>A, XM_005271957.4:c.676C>T, XM_005271957.4:c.676C>A, XM_005271957.3:c.676C>T, XM_005271957.3:c.676C>A, XM_005271957.2:c.676C>T, XM_005271957.2:c.676C>A, XM_005271957.1:c.676C>T, XM_005271957.1:c.676C>A, XM_011543308.4:c.940C>T, XM_011543308.4:c.940C>A, XM_011543308.3:c.940C>T, XM_011543308.3:c.940C>A, XM_011543308.2:c.940C>T, XM_011543308.2:c.940C>A, XM_011543308.1:c.940C>T, XM_011543308.1:c.940C>A, XM_011543311.4:c.406C>T, XM_011543311.4:c.406C>A, XM_011543311.3:c.406C>T, XM_011543311.3:c.406C>A, XM_011543311.2:c.406C>T, XM_011543311.2:c.406C>A, XM_011543311.1:c.406C>T, XM_011543311.1:c.406C>A, XM_011543309.2:c.676C>T, XM_011543309.2:c.676C>A, XM_011543309.1:c.676C>T, XM_011543309.1:c.676C>A, XM_011543310.2:c.676C>T, XM_011543310.2:c.676C>A, XM_011543310.1:c.676C>T, XM_011543310.1:c.676C>A, XM_047417094.1:c.940C>T, XM_047417094.1:c.940C>A, NP_005251.1:p.His314Tyr, NP_005251.1:p.His314Asn, NP_001275754.1:p.His226Tyr, NP_001275754.1:p.His226Asn, NP_001275753.1:p.His226Tyr, NP_001275753.1:p.His226Asn, NP_001275755.1:p.His226Tyr, NP_001275755.1:p.His226Asn, NP_001275756.1:p.His226Tyr, NP_001275756.1:p.His226Asn, NP_001275757.1:p.His226Tyr, NP_001275757.1:p.His226Asn, XP_005272014.1:p.His226Tyr, XP_005272014.1:p.His226Asn, XP_011541610.1:p.His314Tyr, XP_011541610.1:p.His314Asn, XP_011541613.1:p.His136Tyr, XP_011541613.1:p.His136Asn, XP_011541611.1:p.His226Tyr, XP_011541611.1:p.His226Asn, XP_011541612.1:p.His226Tyr, XP_011541612.1:p.His226Asn, XP_047273050.1:p.His314Tyr, XP_047273050.1:p.His314Asn

      3.

      rs1481570425 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        5:132862238 (GRCh38)
        5:132197930 (GRCh37)
        Canonical SPDI:
        NC_000005.10:132862237:C:A
        Gene:
        GDF9 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000111/1 (ALFA)
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000005.10:g.132862238C>A, NC_000005.9:g.132197930C>A, NG_047051.1:g.9647G>T, NM_005260.7:c.716G>T, NM_005260.6:c.716G>T, NM_005260.5:c.716G>T, NM_005260.4:c.716G>T, NM_005260.3:c.716G>T, NM_001288825.4:c.452G>T, NM_001288825.3:c.452G>T, NM_001288825.2:c.452G>T, NM_001288825.1:c.452G>T, NM_001288824.4:c.452G>T, NM_001288824.3:c.452G>T, NM_001288824.2:c.452G>T, NM_001288824.1:c.452G>T, NM_001288826.3:c.452G>T, NM_001288826.2:c.452G>T, NM_001288826.1:c.452G>T, NM_001288827.3:c.452G>T, NM_001288827.2:c.452G>T, NM_001288827.1:c.452G>T, NM_001288828.3:c.452G>T, NM_001288828.2:c.452G>T, NM_001288828.1:c.452G>T, NG_012221.1:g.612C>A, XM_005271957.6:c.452G>T, XM_005271957.5:c.452G>T, XM_005271957.4:c.452G>T, XM_005271957.3:c.452G>T, XM_005271957.2:c.452G>T, XM_005271957.1:c.452G>T, XM_011543308.4:c.716G>T, XM_011543308.3:c.716G>T, XM_011543308.2:c.716G>T, XM_011543308.1:c.716G>T, XM_011543311.4:c.182G>T, XM_011543311.3:c.182G>T, XM_011543311.2:c.182G>T, XM_011543311.1:c.182G>T, XM_011543309.2:c.452G>T, XM_011543309.1:c.452G>T, XM_011543310.2:c.452G>T, XM_011543310.1:c.452G>T, XM_047417094.1:c.716G>T, NP_005251.1:p.Cys239Phe, NP_001275754.1:p.Cys151Phe, NP_001275753.1:p.Cys151Phe, NP_001275755.1:p.Cys151Phe, NP_001275756.1:p.Cys151Phe, NP_001275757.1:p.Cys151Phe, XP_005272014.1:p.Cys151Phe, XP_011541610.1:p.Cys239Phe, XP_011541613.1:p.Cys61Phe, XP_011541611.1:p.Cys151Phe, XP_011541612.1:p.Cys151Phe, XP_047273050.1:p.Cys239Phe

        4.

        rs1480740291 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          5:132862373 (GRCh38)
          5:132198065 (GRCh37)
          Canonical SPDI:
          NC_000005.10:132862372:G:A
          Gene:
          GDF9 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000005.10:g.132862373G>A, NC_000005.9:g.132198065G>A, NG_047051.1:g.9512C>T, NM_005260.7:c.581C>T, NM_005260.6:c.581C>T, NM_005260.5:c.581C>T, NM_005260.4:c.581C>T, NM_005260.3:c.581C>T, NM_001288825.4:c.317C>T, NM_001288825.3:c.317C>T, NM_001288825.2:c.317C>T, NM_001288825.1:c.317C>T, NM_001288824.4:c.317C>T, NM_001288824.3:c.317C>T, NM_001288824.2:c.317C>T, NM_001288824.1:c.317C>T, NM_001288826.3:c.317C>T, NM_001288826.2:c.317C>T, NM_001288826.1:c.317C>T, NM_001288827.3:c.317C>T, NM_001288827.2:c.317C>T, NM_001288827.1:c.317C>T, NM_001288828.3:c.317C>T, NM_001288828.2:c.317C>T, NM_001288828.1:c.317C>T, NG_012221.1:g.747G>A, XM_005271957.6:c.317C>T, XM_005271957.5:c.317C>T, XM_005271957.4:c.317C>T, XM_005271957.3:c.317C>T, XM_005271957.2:c.317C>T, XM_005271957.1:c.317C>T, XM_011543308.4:c.581C>T, XM_011543308.3:c.581C>T, XM_011543308.2:c.581C>T, XM_011543308.1:c.581C>T, XM_011543311.4:c.47C>T, XM_011543311.3:c.47C>T, XM_011543311.2:c.47C>T, XM_011543311.1:c.47C>T, XM_011543309.2:c.317C>T, XM_011543309.1:c.317C>T, XM_011543310.2:c.317C>T, XM_011543310.1:c.317C>T, XM_047417094.1:c.581C>T, NP_005251.1:p.Pro194Leu, NP_001275754.1:p.Pro106Leu, NP_001275753.1:p.Pro106Leu, NP_001275755.1:p.Pro106Leu, NP_001275756.1:p.Pro106Leu, NP_001275757.1:p.Pro106Leu, XP_005272014.1:p.Pro106Leu, XP_011541610.1:p.Pro194Leu, XP_011541613.1:p.Pro16Leu, XP_011541611.1:p.Pro106Leu, XP_011541612.1:p.Pro106Leu, XP_047273050.1:p.Pro194Leu

          5.

          rs1478248649 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            5:132862164 (GRCh38)
            5:132197856 (GRCh37)
            Canonical SPDI:
            NC_000005.10:132862163:T:C,NC_000005.10:132862163:T:G
            Gene:
            GDF9 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000005.10:g.132862164T>C, NC_000005.10:g.132862164T>G, NC_000005.9:g.132197856T>C, NC_000005.9:g.132197856T>G, NG_047051.1:g.9721A>G, NG_047051.1:g.9721A>C, NM_005260.7:c.790A>G, NM_005260.7:c.790A>C, NM_005260.6:c.790A>G, NM_005260.6:c.790A>C, NM_005260.5:c.790A>G, NM_005260.5:c.790A>C, NM_005260.4:c.790A>G, NM_005260.4:c.790A>C, NM_005260.3:c.790A>G, NM_005260.3:c.790A>C, NM_001288825.4:c.526A>G, NM_001288825.4:c.526A>C, NM_001288825.3:c.526A>G, NM_001288825.3:c.526A>C, NM_001288825.2:c.526A>G, NM_001288825.2:c.526A>C, NM_001288825.1:c.526A>G, NM_001288825.1:c.526A>C, NM_001288824.4:c.526A>G, NM_001288824.4:c.526A>C, NM_001288824.3:c.526A>G, NM_001288824.3:c.526A>C, NM_001288824.2:c.526A>G, NM_001288824.2:c.526A>C, NM_001288824.1:c.526A>G, NM_001288824.1:c.526A>C, NM_001288826.3:c.526A>G, NM_001288826.3:c.526A>C, NM_001288826.2:c.526A>G, NM_001288826.2:c.526A>C, NM_001288826.1:c.526A>G, NM_001288826.1:c.526A>C, NM_001288827.3:c.526A>G, NM_001288827.3:c.526A>C, NM_001288827.2:c.526A>G, NM_001288827.2:c.526A>C, NM_001288827.1:c.526A>G, NM_001288827.1:c.526A>C, NM_001288828.3:c.526A>G, NM_001288828.3:c.526A>C, NM_001288828.2:c.526A>G, NM_001288828.2:c.526A>C, NM_001288828.1:c.526A>G, NM_001288828.1:c.526A>C, NG_012221.1:g.538T>C, NG_012221.1:g.538T>G, XM_005271957.6:c.526A>G, XM_005271957.6:c.526A>C, XM_005271957.5:c.526A>G, XM_005271957.5:c.526A>C, XM_005271957.4:c.526A>G, XM_005271957.4:c.526A>C, XM_005271957.3:c.526A>G, XM_005271957.3:c.526A>C, XM_005271957.2:c.526A>G, XM_005271957.2:c.526A>C, XM_005271957.1:c.526A>G, XM_005271957.1:c.526A>C, XM_011543308.4:c.790A>G, XM_011543308.4:c.790A>C, XM_011543308.3:c.790A>G, XM_011543308.3:c.790A>C, XM_011543308.2:c.790A>G, XM_011543308.2:c.790A>C, XM_011543308.1:c.790A>G, XM_011543308.1:c.790A>C, XM_011543311.4:c.256A>G, XM_011543311.4:c.256A>C, XM_011543311.3:c.256A>G, XM_011543311.3:c.256A>C, XM_011543311.2:c.256A>G, XM_011543311.2:c.256A>C, XM_011543311.1:c.256A>G, XM_011543311.1:c.256A>C, XM_011543309.2:c.526A>G, XM_011543309.2:c.526A>C, XM_011543309.1:c.526A>G, XM_011543309.1:c.526A>C, XM_011543310.2:c.526A>G, XM_011543310.2:c.526A>C, XM_011543310.1:c.526A>G, XM_011543310.1:c.526A>C, XM_047417094.1:c.790A>G, XM_047417094.1:c.790A>C, NP_005251.1:p.Ile264Val, NP_005251.1:p.Ile264Leu, NP_001275754.1:p.Ile176Val, NP_001275754.1:p.Ile176Leu, NP_001275753.1:p.Ile176Val, NP_001275753.1:p.Ile176Leu, NP_001275755.1:p.Ile176Val, NP_001275755.1:p.Ile176Leu, NP_001275756.1:p.Ile176Val, NP_001275756.1:p.Ile176Leu, NP_001275757.1:p.Ile176Val, NP_001275757.1:p.Ile176Leu, XP_005272014.1:p.Ile176Val, XP_005272014.1:p.Ile176Leu, XP_011541610.1:p.Ile264Val, XP_011541610.1:p.Ile264Leu, XP_011541613.1:p.Ile86Val, XP_011541613.1:p.Ile86Leu, XP_011541611.1:p.Ile176Val, XP_011541611.1:p.Ile176Leu, XP_011541612.1:p.Ile176Val, XP_011541612.1:p.Ile176Leu, XP_047273050.1:p.Ile264Val, XP_047273050.1:p.Ile264Leu

            6.

            rs1475914007 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              5:132861941 (GRCh38)
              5:132197633 (GRCh37)
              Canonical SPDI:
              NC_000005.10:132861940:T:C,NC_000005.10:132861940:T:G
              Gene:
              GDF9 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000005.10:g.132861941T>C, NC_000005.10:g.132861941T>G, NC_000005.9:g.132197633T>C, NC_000005.9:g.132197633T>G, NG_047051.1:g.9944A>G, NG_047051.1:g.9944A>C, NM_005260.7:c.1013A>G, NM_005260.7:c.1013A>C, NM_005260.6:c.1013A>G, NM_005260.6:c.1013A>C, NM_005260.5:c.1013A>G, NM_005260.5:c.1013A>C, NM_005260.4:c.1013A>G, NM_005260.4:c.1013A>C, NM_005260.3:c.1013A>G, NM_005260.3:c.1013A>C, NM_001288825.4:c.749A>G, NM_001288825.4:c.749A>C, NM_001288825.3:c.749A>G, NM_001288825.3:c.749A>C, NM_001288825.2:c.749A>G, NM_001288825.2:c.749A>C, NM_001288825.1:c.749A>G, NM_001288825.1:c.749A>C, NM_001288824.4:c.749A>G, NM_001288824.4:c.749A>C, NM_001288824.3:c.749A>G, NM_001288824.3:c.749A>C, NM_001288824.2:c.749A>G, NM_001288824.2:c.749A>C, NM_001288824.1:c.749A>G, NM_001288824.1:c.749A>C, NM_001288826.3:c.749A>G, NM_001288826.3:c.749A>C, NM_001288826.2:c.749A>G, NM_001288826.2:c.749A>C, NM_001288826.1:c.749A>G, NM_001288826.1:c.749A>C, NM_001288827.3:c.749A>G, NM_001288827.3:c.749A>C, NM_001288827.2:c.749A>G, NM_001288827.2:c.749A>C, NM_001288827.1:c.749A>G, NM_001288827.1:c.749A>C, NM_001288828.3:c.749A>G, NM_001288828.3:c.749A>C, NM_001288828.2:c.749A>G, NM_001288828.2:c.749A>C, NM_001288828.1:c.749A>G, NM_001288828.1:c.749A>C, NG_012221.1:g.315T>C, NG_012221.1:g.315T>G, XM_005271957.6:c.749A>G, XM_005271957.6:c.749A>C, XM_005271957.5:c.749A>G, XM_005271957.5:c.749A>C, XM_005271957.4:c.749A>G, XM_005271957.4:c.749A>C, XM_005271957.3:c.749A>G, XM_005271957.3:c.749A>C, XM_005271957.2:c.749A>G, XM_005271957.2:c.749A>C, XM_005271957.1:c.749A>G, XM_005271957.1:c.749A>C, XM_011543308.4:c.1013A>G, XM_011543308.4:c.1013A>C, XM_011543308.3:c.1013A>G, XM_011543308.3:c.1013A>C, XM_011543308.2:c.1013A>G, XM_011543308.2:c.1013A>C, XM_011543308.1:c.1013A>G, XM_011543308.1:c.1013A>C, XM_011543311.4:c.479A>G, XM_011543311.4:c.479A>C, XM_011543311.3:c.479A>G, XM_011543311.3:c.479A>C, XM_011543311.2:c.479A>G, XM_011543311.2:c.479A>C, XM_011543311.1:c.479A>G, XM_011543311.1:c.479A>C, XM_011543309.2:c.749A>G, XM_011543309.2:c.749A>C, XM_011543309.1:c.749A>G, XM_011543309.1:c.749A>C, XM_011543310.2:c.749A>G, XM_011543310.2:c.749A>C, XM_011543310.1:c.749A>G, XM_011543310.1:c.749A>C, XM_047417094.1:c.1013A>G, XM_047417094.1:c.1013A>C, NP_005251.1:p.Asn338Ser, NP_005251.1:p.Asn338Thr, NP_001275754.1:p.Asn250Ser, NP_001275754.1:p.Asn250Thr, NP_001275753.1:p.Asn250Ser, NP_001275753.1:p.Asn250Thr, NP_001275755.1:p.Asn250Ser, NP_001275755.1:p.Asn250Thr, NP_001275756.1:p.Asn250Ser, NP_001275756.1:p.Asn250Thr, NP_001275757.1:p.Asn250Ser, NP_001275757.1:p.Asn250Thr, XP_005272014.1:p.Asn250Ser, XP_005272014.1:p.Asn250Thr, XP_011541610.1:p.Asn338Ser, XP_011541610.1:p.Asn338Thr, XP_011541613.1:p.Asn160Ser, XP_011541613.1:p.Asn160Thr, XP_011541611.1:p.Asn250Ser, XP_011541611.1:p.Asn250Thr, XP_011541612.1:p.Asn250Ser, XP_011541612.1:p.Asn250Thr, XP_047273050.1:p.Asn338Ser, XP_047273050.1:p.Asn338Thr

              7.

              rs1473235764 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                5:132861834 (GRCh38)
                5:132197526 (GRCh37)
                Canonical SPDI:
                NC_000005.10:132861833:G:A,NC_000005.10:132861833:G:C
                Gene:
                GDF9 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000005.10:g.132861834G>A, NC_000005.10:g.132861834G>C, NC_000005.9:g.132197526G>A, NC_000005.9:g.132197526G>C, NG_047051.1:g.10051C>T, NG_047051.1:g.10051C>G, NM_005260.7:c.1120C>T, NM_005260.7:c.1120C>G, NM_005260.6:c.1120C>T, NM_005260.6:c.1120C>G, NM_005260.5:c.1120C>T, NM_005260.5:c.1120C>G, NM_005260.4:c.1120C>T, NM_005260.4:c.1120C>G, NM_005260.3:c.1120C>T, NM_005260.3:c.1120C>G, NM_001288825.4:c.856C>T, NM_001288825.4:c.856C>G, NM_001288825.3:c.856C>T, NM_001288825.3:c.856C>G, NM_001288825.2:c.856C>T, NM_001288825.2:c.856C>G, NM_001288825.1:c.856C>T, NM_001288825.1:c.856C>G, NM_001288824.4:c.856C>T, NM_001288824.4:c.856C>G, NM_001288824.3:c.856C>T, NM_001288824.3:c.856C>G, NM_001288824.2:c.856C>T, NM_001288824.2:c.856C>G, NM_001288824.1:c.856C>T, NM_001288824.1:c.856C>G, NM_001288826.3:c.856C>T, NM_001288826.3:c.856C>G, NM_001288826.2:c.856C>T, NM_001288826.2:c.856C>G, NM_001288826.1:c.856C>T, NM_001288826.1:c.856C>G, NM_001288827.3:c.856C>T, NM_001288827.3:c.856C>G, NM_001288827.2:c.856C>T, NM_001288827.2:c.856C>G, NM_001288827.1:c.856C>T, NM_001288827.1:c.856C>G, NM_001288828.3:c.856C>T, NM_001288828.3:c.856C>G, NM_001288828.2:c.856C>T, NM_001288828.2:c.856C>G, NM_001288828.1:c.856C>T, NM_001288828.1:c.856C>G, NG_012221.1:g.208G>A, NG_012221.1:g.208G>C, XM_005271957.6:c.856C>T, XM_005271957.6:c.856C>G, XM_005271957.5:c.856C>T, XM_005271957.5:c.856C>G, XM_005271957.4:c.856C>T, XM_005271957.4:c.856C>G, XM_005271957.3:c.856C>T, XM_005271957.3:c.856C>G, XM_005271957.2:c.856C>T, XM_005271957.2:c.856C>G, XM_005271957.1:c.856C>T, XM_005271957.1:c.856C>G, XM_011543308.4:c.1120C>T, XM_011543308.4:c.1120C>G, XM_011543308.3:c.1120C>T, XM_011543308.3:c.1120C>G, XM_011543308.2:c.1120C>T, XM_011543308.2:c.1120C>G, XM_011543308.1:c.1120C>T, XM_011543308.1:c.1120C>G, XM_011543311.4:c.586C>T, XM_011543311.4:c.586C>G, XM_011543311.3:c.586C>T, XM_011543311.3:c.586C>G, XM_011543311.2:c.586C>T, XM_011543311.2:c.586C>G, XM_011543311.1:c.586C>T, XM_011543311.1:c.586C>G, XM_011543309.2:c.856C>T, XM_011543309.2:c.856C>G, XM_011543309.1:c.856C>T, XM_011543309.1:c.856C>G, XM_011543310.2:c.856C>T, XM_011543310.2:c.856C>G, XM_011543310.1:c.856C>T, XM_011543310.1:c.856C>G, XM_047417094.1:c.1120C>T, XM_047417094.1:c.1120C>G, NP_005251.1:p.Pro374Ser, NP_005251.1:p.Pro374Ala, NP_001275754.1:p.Pro286Ser, NP_001275754.1:p.Pro286Ala, NP_001275753.1:p.Pro286Ser, NP_001275753.1:p.Pro286Ala, NP_001275755.1:p.Pro286Ser, NP_001275755.1:p.Pro286Ala, NP_001275756.1:p.Pro286Ser, NP_001275756.1:p.Pro286Ala, NP_001275757.1:p.Pro286Ser, NP_001275757.1:p.Pro286Ala, XP_005272014.1:p.Pro286Ser, XP_005272014.1:p.Pro286Ala, XP_011541610.1:p.Pro374Ser, XP_011541610.1:p.Pro374Ala, XP_011541613.1:p.Pro196Ser, XP_011541613.1:p.Pro196Ala, XP_011541611.1:p.Pro286Ser, XP_011541611.1:p.Pro286Ala, XP_011541612.1:p.Pro286Ser, XP_011541612.1:p.Pro286Ala, XP_047273050.1:p.Pro374Ser, XP_047273050.1:p.Pro374Ala

                8.

                rs1473210799 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  5:132862339 (GRCh38)
                  5:132198031 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:132862338:A:G
                  Gene:
                  GDF9 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000005.10:g.132862339A>G, NC_000005.9:g.132198031A>G, NG_047051.1:g.9546T>C, NM_005260.7:c.615T>C, NM_005260.6:c.615T>C, NM_005260.5:c.615T>C, NM_005260.4:c.615T>C, NM_005260.3:c.615T>C, NM_001288825.4:c.351T>C, NM_001288825.3:c.351T>C, NM_001288825.2:c.351T>C, NM_001288825.1:c.351T>C, NM_001288824.4:c.351T>C, NM_001288824.3:c.351T>C, NM_001288824.2:c.351T>C, NM_001288824.1:c.351T>C, NM_001288826.3:c.351T>C, NM_001288826.2:c.351T>C, NM_001288826.1:c.351T>C, NM_001288827.3:c.351T>C, NM_001288827.2:c.351T>C, NM_001288827.1:c.351T>C, NM_001288828.3:c.351T>C, NM_001288828.2:c.351T>C, NM_001288828.1:c.351T>C, NG_012221.1:g.713A>G, XM_005271957.6:c.351T>C, XM_005271957.5:c.351T>C, XM_005271957.4:c.351T>C, XM_005271957.3:c.351T>C, XM_005271957.2:c.351T>C, XM_005271957.1:c.351T>C, XM_011543308.4:c.615T>C, XM_011543308.3:c.615T>C, XM_011543308.2:c.615T>C, XM_011543308.1:c.615T>C, XM_011543311.4:c.81T>C, XM_011543311.3:c.81T>C, XM_011543311.2:c.81T>C, XM_011543311.1:c.81T>C, XM_011543309.2:c.351T>C, XM_011543309.1:c.351T>C, XM_011543310.2:c.351T>C, XM_011543310.1:c.351T>C, XM_047417094.1:c.615T>C

                  9.

                  rs1470906900 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    5:132861720 (GRCh38)
                    5:132197412 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:132861719:A:C
                    Gene:
                    GDF9 (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=0.000142/2 (TOMMO)
                    HGVS:
                    NC_000005.10:g.132861720A>C, NC_000005.9:g.132197412A>C, NG_047051.1:g.10165T>G, NM_005260.7:c.1234T>G, NM_005260.6:c.1234T>G, NM_005260.5:c.1234T>G, NM_005260.4:c.1234T>G, NM_005260.3:c.1234T>G, NM_001288825.4:c.970T>G, NM_001288825.3:c.970T>G, NM_001288825.2:c.970T>G, NM_001288825.1:c.970T>G, NM_001288824.4:c.970T>G, NM_001288824.3:c.970T>G, NM_001288824.2:c.970T>G, NM_001288824.1:c.970T>G, NM_001288826.3:c.970T>G, NM_001288826.2:c.970T>G, NM_001288826.1:c.970T>G, NM_001288827.3:c.970T>G, NM_001288827.2:c.970T>G, NM_001288827.1:c.970T>G, NM_001288828.3:c.970T>G, NM_001288828.2:c.970T>G, NM_001288828.1:c.970T>G, NG_012221.1:g.94A>C, XM_005271957.6:c.970T>G, XM_005271957.5:c.970T>G, XM_005271957.4:c.970T>G, XM_005271957.3:c.970T>G, XM_005271957.2:c.970T>G, XM_005271957.1:c.970T>G, XM_011543308.4:c.1234T>G, XM_011543308.3:c.1234T>G, XM_011543308.2:c.1234T>G, XM_011543308.1:c.1234T>G, XM_011543311.4:c.700T>G, XM_011543311.3:c.700T>G, XM_011543311.2:c.700T>G, XM_011543311.1:c.700T>G, XM_011543309.2:c.970T>G, XM_011543309.1:c.970T>G, XM_011543310.2:c.970T>G, XM_011543310.1:c.970T>G, XM_047417094.1:c.1234T>G, NP_005251.1:p.Ser412Ala, NP_001275754.1:p.Ser324Ala, NP_001275753.1:p.Ser324Ala, NP_001275755.1:p.Ser324Ala, NP_001275756.1:p.Ser324Ala, NP_001275757.1:p.Ser324Ala, XP_005272014.1:p.Ser324Ala, XP_011541610.1:p.Ser412Ala, XP_011541613.1:p.Ser234Ala, XP_011541611.1:p.Ser324Ala, XP_011541612.1:p.Ser324Ala, XP_047273050.1:p.Ser412Ala

                    10.

                    rs1466417546 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:132862489 (GRCh38)
                      5:132198181 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:132862488:C:T
                      Gene:
                      GDF9 (Varview)
                      Functional Consequence:
                      synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000008/2 (GnomAD_exomes)
                      T=0.000015/4 (TOPMED)
                      T=0.000342/1 (KOREAN)
                      HGVS:
                      NC_000005.10:g.132862489C>T, NC_000005.9:g.132198181C>T, NG_047051.1:g.9396G>A, NM_005260.7:c.465G>A, NM_005260.6:c.465G>A, NM_005260.5:c.465G>A, NM_005260.4:c.465G>A, NM_005260.3:c.465G>A, NM_001288825.4:c.201G>A, NM_001288825.3:c.201G>A, NM_001288825.2:c.201G>A, NM_001288825.1:c.201G>A, NM_001288824.4:c.201G>A, NM_001288824.3:c.201G>A, NM_001288824.2:c.201G>A, NM_001288824.1:c.201G>A, NM_001288826.3:c.201G>A, NM_001288826.2:c.201G>A, NM_001288826.1:c.201G>A, NM_001288827.3:c.201G>A, NM_001288827.2:c.201G>A, NM_001288827.1:c.201G>A, NM_001288828.3:c.201G>A, NM_001288828.2:c.201G>A, NM_001288828.1:c.201G>A, NG_012221.1:g.863C>T, XM_005271957.6:c.201G>A, XM_005271957.5:c.201G>A, XM_005271957.4:c.201G>A, XM_005271957.3:c.201G>A, XM_005271957.2:c.201G>A, XM_005271957.1:c.201G>A, XM_011543308.4:c.465G>A, XM_011543308.3:c.465G>A, XM_011543308.2:c.465G>A, XM_011543308.1:c.465G>A, XM_011543311.4:c.-70G>A, XM_011543311.3:c.-70G>A, XM_011543311.2:c.-70G>A, XM_011543311.1:c.-70G>A, XM_011543309.2:c.201G>A, XM_011543309.1:c.201G>A, XM_011543310.2:c.201G>A, XM_011543310.1:c.201G>A, XM_047417094.1:c.465G>A

                      11.

                      rs1466372248 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:132864400 (GRCh38)
                        5:132200092 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:132864399:A:G
                        Gene:
                        GDF9 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1465973158 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          5:132861754 (GRCh38)
                          5:132197446 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:132861753:G:C
                          Gene:
                          GDF9 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000047/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.132861754G>C, NC_000005.9:g.132197446G>C, NG_047051.1:g.10131C>G, NM_005260.7:c.1200C>G, NM_005260.6:c.1200C>G, NM_005260.5:c.1200C>G, NM_005260.4:c.1200C>G, NM_005260.3:c.1200C>G, NM_001288825.4:c.936C>G, NM_001288825.3:c.936C>G, NM_001288825.2:c.936C>G, NM_001288825.1:c.936C>G, NM_001288824.4:c.936C>G, NM_001288824.3:c.936C>G, NM_001288824.2:c.936C>G, NM_001288824.1:c.936C>G, NM_001288826.3:c.936C>G, NM_001288826.2:c.936C>G, NM_001288826.1:c.936C>G, NM_001288827.3:c.936C>G, NM_001288827.2:c.936C>G, NM_001288827.1:c.936C>G, NM_001288828.3:c.936C>G, NM_001288828.2:c.936C>G, NM_001288828.1:c.936C>G, NG_012221.1:g.128G>C, XM_005271957.6:c.936C>G, XM_005271957.5:c.936C>G, XM_005271957.4:c.936C>G, XM_005271957.3:c.936C>G, XM_005271957.2:c.936C>G, XM_005271957.1:c.936C>G, XM_011543308.4:c.1200C>G, XM_011543308.3:c.1200C>G, XM_011543308.2:c.1200C>G, XM_011543308.1:c.1200C>G, XM_011543311.4:c.666C>G, XM_011543311.3:c.666C>G, XM_011543311.2:c.666C>G, XM_011543311.1:c.666C>G, XM_011543309.2:c.936C>G, XM_011543309.1:c.936C>G, XM_011543310.2:c.936C>G, XM_011543310.1:c.936C>G, XM_047417094.1:c.1200C>G

                          13.

                          rs1464298238 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTC>- [Show Flanks]
                            Chromosome:
                            5:132864265 (GRCh38)
                            5:132199957 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:132864260:CTTCTTC:CTTC
                            Gene:
                            GDF9 (Varview)
                            Functional Consequence:
                            initiator_codon_variant,intron_variant,inframe_deletion,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.132864262TTC[1], NC_000005.9:g.132199954TTC[1], NG_047051.1:g.7619AAG[1], NM_005260.7:c.268AAG[1], NM_005260.6:c.268AAG[1], NM_005260.5:c.268AAG[1], NM_005260.4:c.268AAG[1], NM_005260.3:c.268AAG[1], NM_001288825.4:c.4AAG[1], NM_001288825.3:c.4AAG[1], NM_001288825.2:c.4AAG[1], NM_001288825.1:c.4AAG[1], NM_001288824.4:c.4AAG[1], NM_001288824.3:c.4AAG[1], NM_001288824.2:c.4AAG[1], NM_001288824.1:c.4AAG[1], NM_001288826.3:c.4AAG[1], NM_001288826.2:c.4AAG[1], NM_001288826.1:c.4AAG[1], NM_001288827.3:c.4AAG[1], NM_001288827.2:c.4AAG[1], NM_001288827.1:c.4AAG[1], NM_001288828.3:c.4AAG[1], NM_001288828.2:c.4AAG[1], NM_001288828.1:c.4AAG[1], NG_012221.1:g.2636TTC[1], XM_005271957.6:c.4AAG[1], XM_005271957.5:c.4AAG[1], XM_005271957.4:c.4AAG[1], XM_005271957.3:c.4AAG[1], XM_005271957.2:c.4AAG[1], XM_005271957.1:c.4AAG[1], XM_011543308.4:c.268AAG[1], XM_011543308.3:c.268AAG[1], XM_011543308.2:c.268AAG[1], XM_011543308.1:c.268AAG[1], XM_011543309.2:c.4AAG[1], XM_011543309.1:c.4AAG[1], XM_011543310.2:c.4AAG[1], XM_011543310.1:c.4AAG[1], XM_047417094.1:c.268AAG[1], NP_005251.1:p.Lys91del, NP_001275754.1:p.Lys3del, NP_001275753.1:p.Lys3del, NP_001275755.1:p.Lys3del, NP_001275756.1:p.Lys3del, NP_001275757.1:p.Lys3del, XP_005272014.1:p.Lys3del, XP_011541610.1:p.Lys91del, XP_011541611.1:p.Lys3del, XP_011541612.1:p.Lys3del, XP_047273050.1:p.Lys91del

                            14.

                            rs1461715616 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AGTATG>- [Show Flanks]
                              Chromosome:
                              5:132862368 (GRCh38)
                              5:132198060 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:132862364:ATGAGTATG:ATG
                              Gene:
                              GDF9 (Varview)
                              Functional Consequence:
                              inframe_deletion,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ATG=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000005.10:g.132862368_132862373del, NC_000005.9:g.132198060_132198065del, NG_047051.1:g.9515_9520del, NM_005260.7:c.584_589del, NM_005260.6:c.584_589del, NM_005260.5:c.584_589del, NM_005260.4:c.584_589del, NM_005260.3:c.584_589del, NM_001288825.4:c.320_325del, NM_001288825.3:c.320_325del, NM_001288825.2:c.320_325del, NM_001288825.1:c.320_325del, NM_001288824.4:c.320_325del, NM_001288824.3:c.320_325del, NM_001288824.2:c.320_325del, NM_001288824.1:c.320_325del, NM_001288826.3:c.320_325del, NM_001288826.2:c.320_325del, NM_001288826.1:c.320_325del, NM_001288827.3:c.320_325del, NM_001288827.2:c.320_325del, NM_001288827.1:c.320_325del, NM_001288828.3:c.320_325del, NM_001288828.2:c.320_325del, NM_001288828.1:c.320_325del, NG_012221.1:g.742_747del, XM_005271957.6:c.320_325del, XM_005271957.5:c.320_325del, XM_005271957.4:c.320_325del, XM_005271957.3:c.320_325del, XM_005271957.2:c.320_325del, XM_005271957.1:c.320_325del, XM_011543308.4:c.584_589del, XM_011543308.3:c.584_589del, XM_011543308.2:c.584_589del, XM_011543308.1:c.584_589del, XM_011543311.4:c.50_55del, XM_011543311.3:c.50_55del, XM_011543311.2:c.50_55del, XM_011543311.1:c.50_55del, XM_011543309.2:c.320_325del, XM_011543309.1:c.320_325del, XM_011543310.2:c.320_325del, XM_011543310.1:c.320_325del, XM_047417094.1:c.584_589del, NP_005251.1:p.Tyr195_Ser196del, NP_001275754.1:p.Tyr107_Ser108del, NP_001275753.1:p.Tyr107_Ser108del, NP_001275755.1:p.Tyr107_Ser108del, NP_001275756.1:p.Tyr107_Ser108del, NP_001275757.1:p.Tyr107_Ser108del, XP_005272014.1:p.Tyr107_Ser108del, XP_011541610.1:p.Tyr195_Ser196del, XP_011541613.1:p.Tyr17_Ser18del, XP_011541611.1:p.Tyr107_Ser108del, XP_011541612.1:p.Tyr107_Ser108del, XP_047273050.1:p.Tyr195_Ser196del

                              15.

                              rs1459696637 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                5:132864252 (GRCh38)
                                5:132199944 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:132864251:C:G
                                Gene:
                                GDF9 (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000005.10:g.132864252C>G, NC_000005.9:g.132199944C>G, NG_047051.1:g.7633G>C, NM_005260.7:c.282G>C, NM_005260.6:c.282G>C, NM_005260.5:c.282G>C, NM_005260.4:c.282G>C, NM_005260.3:c.282G>C, NM_001288825.4:c.18G>C, NM_001288825.3:c.18G>C, NM_001288825.2:c.18G>C, NM_001288825.1:c.18G>C, NM_001288824.4:c.18G>C, NM_001288824.3:c.18G>C, NM_001288824.2:c.18G>C, NM_001288824.1:c.18G>C, NM_001288826.3:c.18G>C, NM_001288826.2:c.18G>C, NM_001288826.1:c.18G>C, NM_001288827.3:c.18G>C, NM_001288827.2:c.18G>C, NM_001288827.1:c.18G>C, NM_001288828.3:c.18G>C, NM_001288828.2:c.18G>C, NM_001288828.1:c.18G>C, NG_012221.1:g.2626C>G, XM_005271957.6:c.18G>C, XM_005271957.5:c.18G>C, XM_005271957.4:c.18G>C, XM_005271957.3:c.18G>C, XM_005271957.2:c.18G>C, XM_005271957.1:c.18G>C, XM_011543308.4:c.282G>C, XM_011543308.3:c.282G>C, XM_011543308.2:c.282G>C, XM_011543308.1:c.282G>C, XM_011543309.2:c.18G>C, XM_011543309.1:c.18G>C, XM_011543310.2:c.18G>C, XM_011543310.1:c.18G>C, XM_047417094.1:c.282G>C, NP_005251.1:p.Lys94Asn, NP_001275754.1:p.Lys6Asn, NP_001275753.1:p.Lys6Asn, NP_001275755.1:p.Lys6Asn, NP_001275756.1:p.Lys6Asn, NP_001275757.1:p.Lys6Asn, XP_005272014.1:p.Lys6Asn, XP_011541610.1:p.Lys94Asn, XP_011541611.1:p.Lys6Asn, XP_011541612.1:p.Lys6Asn, XP_047273050.1:p.Lys94Asn

                                16.

                                rs1451866389 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:132862232 (GRCh38)
                                  5:132197924 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:132862231:T:C
                                  Gene:
                                  GDF9 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000005.10:g.132862232T>C, NC_000005.9:g.132197924T>C, NG_047051.1:g.9653A>G, NM_005260.7:c.722A>G, NM_005260.6:c.722A>G, NM_005260.5:c.722A>G, NM_005260.4:c.722A>G, NM_005260.3:c.722A>G, NM_001288825.4:c.458A>G, NM_001288825.3:c.458A>G, NM_001288825.2:c.458A>G, NM_001288825.1:c.458A>G, NM_001288824.4:c.458A>G, NM_001288824.3:c.458A>G, NM_001288824.2:c.458A>G, NM_001288824.1:c.458A>G, NM_001288826.3:c.458A>G, NM_001288826.2:c.458A>G, NM_001288826.1:c.458A>G, NM_001288827.3:c.458A>G, NM_001288827.2:c.458A>G, NM_001288827.1:c.458A>G, NM_001288828.3:c.458A>G, NM_001288828.2:c.458A>G, NM_001288828.1:c.458A>G, NG_012221.1:g.606T>C, XM_005271957.6:c.458A>G, XM_005271957.5:c.458A>G, XM_005271957.4:c.458A>G, XM_005271957.3:c.458A>G, XM_005271957.2:c.458A>G, XM_005271957.1:c.458A>G, XM_011543308.4:c.722A>G, XM_011543308.3:c.722A>G, XM_011543308.2:c.722A>G, XM_011543308.1:c.722A>G, XM_011543311.4:c.188A>G, XM_011543311.3:c.188A>G, XM_011543311.2:c.188A>G, XM_011543311.1:c.188A>G, XM_011543309.2:c.458A>G, XM_011543309.1:c.458A>G, XM_011543310.2:c.458A>G, XM_011543310.1:c.458A>G, XM_047417094.1:c.722A>G, NP_005251.1:p.Lys241Arg, NP_001275754.1:p.Lys153Arg, NP_001275753.1:p.Lys153Arg, NP_001275755.1:p.Lys153Arg, NP_001275756.1:p.Lys153Arg, NP_001275757.1:p.Lys153Arg, XP_005272014.1:p.Lys153Arg, XP_011541610.1:p.Lys241Arg, XP_011541613.1:p.Lys63Arg, XP_011541611.1:p.Lys153Arg, XP_011541612.1:p.Lys153Arg, XP_047273050.1:p.Lys241Arg

                                  17.

                                  rs1451819969 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    5:132864523 (GRCh38)
                                    5:132200215 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:132864522:G:C
                                    Gene:
                                    GDF9 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1450819022 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:132864226 (GRCh38)
                                      5:132199918 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:132864225:G:A
                                      Gene:
                                      GDF9 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000005.10:g.132864226G>A, NC_000005.9:g.132199918G>A, NG_047051.1:g.7659C>T, NM_005260.7:c.308C>T, NM_005260.6:c.308C>T, NM_005260.5:c.308C>T, NM_005260.4:c.308C>T, NM_005260.3:c.308C>T, NM_001288825.4:c.44C>T, NM_001288825.3:c.44C>T, NM_001288825.2:c.44C>T, NM_001288825.1:c.44C>T, NM_001288824.4:c.44C>T, NM_001288824.3:c.44C>T, NM_001288824.2:c.44C>T, NM_001288824.1:c.44C>T, NM_001288826.3:c.44C>T, NM_001288826.2:c.44C>T, NM_001288826.1:c.44C>T, NM_001288827.3:c.44C>T, NM_001288827.2:c.44C>T, NM_001288827.1:c.44C>T, NM_001288828.3:c.44C>T, NM_001288828.2:c.44C>T, NM_001288828.1:c.44C>T, NG_012221.1:g.2600G>A, XM_005271957.6:c.44C>T, XM_005271957.5:c.44C>T, XM_005271957.4:c.44C>T, XM_005271957.3:c.44C>T, XM_005271957.2:c.44C>T, XM_005271957.1:c.44C>T, XM_011543308.4:c.308C>T, XM_011543308.3:c.308C>T, XM_011543308.2:c.308C>T, XM_011543308.1:c.308C>T, XM_011543309.2:c.44C>T, XM_011543309.1:c.44C>T, XM_011543310.2:c.44C>T, XM_011543310.1:c.44C>T, XM_047417094.1:c.308C>T, NP_005251.1:p.Pro103Leu, NP_001275754.1:p.Pro15Leu, NP_001275753.1:p.Pro15Leu, NP_001275755.1:p.Pro15Leu, NP_001275756.1:p.Pro15Leu, NP_001275757.1:p.Pro15Leu, XP_005272014.1:p.Pro15Leu, XP_011541610.1:p.Pro103Leu, XP_011541611.1:p.Pro15Leu, XP_011541612.1:p.Pro15Leu, XP_047273050.1:p.Pro103Leu

                                      19.

                                      rs1448827828 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:132861727 (GRCh38)
                                        5:132197419 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:132861726:C:T
                                        Gene:
                                        GDF9 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000043/1 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000005.10:g.132861727C>T, NC_000005.9:g.132197419C>T, NG_047051.1:g.10158G>A, NM_005260.7:c.1227G>A, NM_005260.6:c.1227G>A, NM_005260.5:c.1227G>A, NM_005260.4:c.1227G>A, NM_005260.3:c.1227G>A, NM_001288825.4:c.963G>A, NM_001288825.3:c.963G>A, NM_001288825.2:c.963G>A, NM_001288825.1:c.963G>A, NM_001288824.4:c.963G>A, NM_001288824.3:c.963G>A, NM_001288824.2:c.963G>A, NM_001288824.1:c.963G>A, NM_001288826.3:c.963G>A, NM_001288826.2:c.963G>A, NM_001288826.1:c.963G>A, NM_001288827.3:c.963G>A, NM_001288827.2:c.963G>A, NM_001288827.1:c.963G>A, NM_001288828.3:c.963G>A, NM_001288828.2:c.963G>A, NM_001288828.1:c.963G>A, NG_012221.1:g.101C>T, XM_005271957.6:c.963G>A, XM_005271957.5:c.963G>A, XM_005271957.4:c.963G>A, XM_005271957.3:c.963G>A, XM_005271957.2:c.963G>A, XM_005271957.1:c.963G>A, XM_011543308.4:c.1227G>A, XM_011543308.3:c.1227G>A, XM_011543308.2:c.1227G>A, XM_011543308.1:c.1227G>A, XM_011543311.4:c.693G>A, XM_011543311.3:c.693G>A, XM_011543311.2:c.693G>A, XM_011543311.1:c.693G>A, XM_011543309.2:c.963G>A, XM_011543309.1:c.963G>A, XM_011543310.2:c.963G>A, XM_011543310.1:c.963G>A, XM_047417094.1:c.1227G>A

                                        20.

                                        rs1448735620 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:132864207 (GRCh38)
                                          5:132199899 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:132864206:G:A
                                          Gene:
                                          GDF9 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000035/1 (TOMMO)
                                          HGVS:
                                          NC_000005.10:g.132864207G>A, NC_000005.9:g.132199899G>A, NG_047051.1:g.7678C>T, NM_005260.7:c.327C>T, NM_005260.6:c.327C>T, NM_005260.5:c.327C>T, NM_005260.4:c.327C>T, NM_005260.3:c.327C>T, NM_001288825.4:c.63C>T, NM_001288825.3:c.63C>T, NM_001288825.2:c.63C>T, NM_001288825.1:c.63C>T, NM_001288824.4:c.63C>T, NM_001288824.3:c.63C>T, NM_001288824.2:c.63C>T, NM_001288824.1:c.63C>T, NM_001288826.3:c.63C>T, NM_001288826.2:c.63C>T, NM_001288826.1:c.63C>T, NM_001288827.3:c.63C>T, NM_001288827.2:c.63C>T, NM_001288827.1:c.63C>T, NM_001288828.3:c.63C>T, NM_001288828.2:c.63C>T, NM_001288828.1:c.63C>T, NG_012221.1:g.2581G>A, XM_005271957.6:c.63C>T, XM_005271957.5:c.63C>T, XM_005271957.4:c.63C>T, XM_005271957.3:c.63C>T, XM_005271957.2:c.63C>T, XM_005271957.1:c.63C>T, XM_011543308.4:c.327C>T, XM_011543308.3:c.327C>T, XM_011543308.2:c.327C>T, XM_011543308.1:c.327C>T, XM_011543309.2:c.63C>T, XM_011543309.1:c.63C>T, XM_011543310.2:c.63C>T, XM_011543310.1:c.63C>T, XM_047417094.1:c.327C>T

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