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Items: 1 to 20 of 412

1.

rs1486252657 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:27977362 (GRCh38)
    1:28303873 (GRCh37)
    Canonical SPDI:
    NC_000001.11:27977361:A:G
    Gene:
    EYA3 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000013/2 (GnomAD_exomes)
    HGVS:

    2.

    rs1485249532 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:28004383 (GRCh38)
      1:28330894 (GRCh37)
      Canonical SPDI:
      NC_000001.11:28004382:T:C
      Gene:
      EYA3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.28004383T>C, NC_000001.10:g.28330894T>C, XM_006710449.4:c.952A>G, XM_006710449.3:c.952A>G, XM_006710449.2:c.952A>G, XM_006710449.1:c.952A>G, NM_001990.4:c.946A>G, NM_001990.3:c.946A>G, XM_011541001.4:c.946A>G, XM_011541001.3:c.946A>G, XM_011541001.2:c.946A>G, XM_011541001.1:c.946A>G, XM_011541004.3:c.814A>G, XM_011541004.2:c.814A>G, XM_011541004.1:c.814A>G, XM_011540999.3:c.952A>G, XM_011540999.2:c.952A>G, XM_011540999.1:c.952A>G, XM_011541003.3:c.814A>G, XM_011541003.2:c.814A>G, XM_011541003.1:c.814A>G, NM_001282562.2:c.787A>G, NM_001282562.1:c.787A>G, NM_001282561.2:c.808A>G, NM_001282561.1:c.808A>G, XM_024453987.2:c.952A>G, XM_024453987.1:c.952A>G, XM_024453995.2:c.946A>G, XM_024453995.1:c.946A>G, NR_104214.2:n.1101A>G, NR_104214.1:n.1128A>G, NM_001282560.2:c.808A>G, NM_001282560.1:c.808A>G, XM_047449416.1:c.946A>G, XM_047449420.1:c.808A>G, XM_047449417.1:c.808A>G, NM_172098.1:c.946A>G, XM_047449419.1:c.787A>G, XR_007096080.1:n.1107A>G, XP_006710512.1:p.Ile318Val, NP_001981.2:p.Ile316Val, XP_011539303.1:p.Ile316Val, XP_011539306.1:p.Ile272Val, XP_011539301.1:p.Ile318Val, XP_011539305.1:p.Ile272Val, NP_001269491.1:p.Ile263Val, NP_001269490.1:p.Ile270Val, XP_024309755.1:p.Ile318Val, XP_024309763.1:p.Ile316Val, NP_001269489.1:p.Ile270Val, XP_047305372.1:p.Ile316Val, XP_047305376.1:p.Ile270Val, XP_047305373.1:p.Ile270Val, XP_047305375.1:p.Ile263Val

      3.

      rs1482247708 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        1:28035624 (GRCh38)
        1:28362135 (GRCh37)
        Canonical SPDI:
        NC_000001.11:28035623:G:C
        Gene:
        EYA3 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.28035624G>C, NC_000001.10:g.28362135G>C, XM_006710449.4:c.287C>G, XM_006710449.3:c.287C>G, XM_006710449.2:c.287C>G, XM_006710449.1:c.287C>G, NM_001990.4:c.281C>G, NM_001990.3:c.281C>G, XM_011541001.4:c.281C>G, XM_011541001.3:c.281C>G, XM_011541001.2:c.281C>G, XM_011541001.1:c.281C>G, XM_011541004.3:c.287C>G, XM_011541004.2:c.287C>G, XM_011541004.1:c.287C>G, XM_011540999.3:c.287C>G, XM_011540999.2:c.287C>G, XM_011540999.1:c.287C>G, XM_011541003.3:c.287C>G, XM_011541003.2:c.287C>G, XM_011541003.1:c.287C>G, NM_001282562.2:c.122C>G, NM_001282562.1:c.122C>G, NM_001282561.2:c.281C>G, NM_001282561.1:c.281C>G, XM_024453987.2:c.287C>G, XM_024453987.1:c.287C>G, XM_024453995.2:c.281C>G, XM_024453995.1:c.281C>G, NR_104214.2:n.436C>G, NR_104214.1:n.463C>G, NM_001282560.2:c.281C>G, NM_001282560.1:c.281C>G, XM_047449416.1:c.281C>G, XM_047449420.1:c.281C>G, XM_047449417.1:c.281C>G, NM_172098.1:c.281C>G, XM_047449419.1:c.122C>G, XR_007096080.1:n.442C>G, XP_006710512.1:p.Thr96Ser, NP_001981.2:p.Thr94Ser, XP_011539303.1:p.Thr94Ser, XP_011539306.1:p.Thr96Ser, XP_011539301.1:p.Thr96Ser, XP_011539305.1:p.Thr96Ser, NP_001269491.1:p.Thr41Ser, NP_001269490.1:p.Thr94Ser, XP_024309755.1:p.Thr96Ser, XP_024309763.1:p.Thr94Ser, NP_001269489.1:p.Thr94Ser, XP_047305372.1:p.Thr94Ser, XP_047305376.1:p.Thr94Ser, XP_047305373.1:p.Thr94Ser, XP_047305375.1:p.Thr41Ser

        4.

        rs1474870707 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:27977285 (GRCh38)
          1:28303796 (GRCh37)
          Canonical SPDI:
          NC_000001.11:27977284:T:C
          Gene:
          EYA3 (Varview)
          Functional Consequence:
          synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1472369306 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:28017212 (GRCh38)
            1:28343723 (GRCh37)
            Canonical SPDI:
            NC_000001.11:28017211:G:C
            Gene:
            EYA3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.28017212G>C, NC_000001.10:g.28343723G>C, XM_006710449.4:c.533C>G, XM_006710449.3:c.533C>G, XM_006710449.2:c.533C>G, XM_006710449.1:c.533C>G, NM_001990.4:c.527C>G, NM_001990.3:c.527C>G, XM_011541001.4:c.527C>G, XM_011541001.3:c.527C>G, XM_011541001.2:c.527C>G, XM_011541001.1:c.527C>G, XM_011541004.3:c.395C>G, XM_011541004.2:c.395C>G, XM_011541004.1:c.395C>G, XM_011540999.3:c.533C>G, XM_011540999.2:c.533C>G, XM_011540999.1:c.533C>G, XM_011541003.3:c.395C>G, XM_011541003.2:c.395C>G, XM_011541003.1:c.395C>G, NM_001282562.2:c.368C>G, NM_001282562.1:c.368C>G, NM_001282561.2:c.389C>G, NM_001282561.1:c.389C>G, XM_024453987.2:c.533C>G, XM_024453987.1:c.533C>G, XM_024453995.2:c.527C>G, XM_024453995.1:c.527C>G, NR_104214.2:n.682C>G, NR_104214.1:n.709C>G, NM_001282560.2:c.389C>G, NM_001282560.1:c.389C>G, XM_047449416.1:c.527C>G, XM_047449420.1:c.389C>G, XM_047449417.1:c.389C>G, NM_172098.1:c.527C>G, XM_047449419.1:c.368C>G, XR_007096080.1:n.688C>G, XP_006710512.1:p.Ser178Cys, NP_001981.2:p.Ser176Cys, XP_011539303.1:p.Ser176Cys, XP_011539306.1:p.Ser132Cys, XP_011539301.1:p.Ser178Cys, XP_011539305.1:p.Ser132Cys, NP_001269491.1:p.Ser123Cys, NP_001269490.1:p.Ser130Cys, XP_024309755.1:p.Ser178Cys, XP_024309763.1:p.Ser176Cys, NP_001269489.1:p.Ser130Cys, XP_047305372.1:p.Ser176Cys, XP_047305376.1:p.Ser130Cys, XP_047305373.1:p.Ser130Cys, XP_047305375.1:p.Ser123Cys

            6.

            rs1471386108 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:28035569 (GRCh38)
              1:28362080 (GRCh37)
              Canonical SPDI:
              NC_000001.11:28035568:G:A
              Gene:
              EYA3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.28035569G>A, NC_000001.10:g.28362080G>A, XM_006710449.4:c.342C>T, XM_006710449.3:c.342C>T, XM_006710449.2:c.342C>T, XM_006710449.1:c.342C>T, NM_001990.4:c.336C>T, NM_001990.3:c.336C>T, XM_011541001.4:c.336C>T, XM_011541001.3:c.336C>T, XM_011541001.2:c.336C>T, XM_011541001.1:c.336C>T, XM_011541004.3:c.342C>T, XM_011541004.2:c.342C>T, XM_011541004.1:c.342C>T, XM_011540999.3:c.342C>T, XM_011540999.2:c.342C>T, XM_011540999.1:c.342C>T, XM_011541003.3:c.342C>T, XM_011541003.2:c.342C>T, XM_011541003.1:c.342C>T, NM_001282562.2:c.177C>T, NM_001282562.1:c.177C>T, NM_001282561.2:c.336C>T, NM_001282561.1:c.336C>T, XM_024453987.2:c.342C>T, XM_024453987.1:c.342C>T, XM_024453995.2:c.336C>T, XM_024453995.1:c.336C>T, NR_104214.2:n.491C>T, NR_104214.1:n.518C>T, NM_001282560.2:c.336C>T, NM_001282560.1:c.336C>T, XM_047449416.1:c.336C>T, XM_047449420.1:c.336C>T, XM_047449417.1:c.336C>T, NM_172098.1:c.336C>T, XM_047449419.1:c.177C>T, XR_007096080.1:n.497C>T

              7.

              rs1465519354 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                1:28010982 (GRCh38)
                1:28337493 (GRCh37)
                Canonical SPDI:
                NC_000001.11:28010981:C:G
                Gene:
                EYA3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                HGVS:
                NC_000001.11:g.28010982C>G, NC_000001.10:g.28337493C>G, XM_006710449.4:c.880G>C, XM_006710449.3:c.880G>C, XM_006710449.2:c.880G>C, XM_006710449.1:c.880G>C, NM_001990.4:c.874G>C, NM_001990.3:c.874G>C, XM_011541001.4:c.874G>C, XM_011541001.3:c.874G>C, XM_011541001.2:c.874G>C, XM_011541001.1:c.874G>C, XM_011541004.3:c.742G>C, XM_011541004.2:c.742G>C, XM_011541004.1:c.742G>C, XM_011540999.3:c.880G>C, XM_011540999.2:c.880G>C, XM_011540999.1:c.880G>C, XM_011541003.3:c.742G>C, XM_011541003.2:c.742G>C, XM_011541003.1:c.742G>C, NM_001282562.2:c.715G>C, NM_001282562.1:c.715G>C, NM_001282561.2:c.736G>C, NM_001282561.1:c.736G>C, XM_024453987.2:c.880G>C, XM_024453987.1:c.880G>C, XM_024453995.2:c.874G>C, XM_024453995.1:c.874G>C, NR_104214.2:n.1029G>C, NR_104214.1:n.1056G>C, NM_001282560.2:c.736G>C, NM_001282560.1:c.736G>C, XM_047449416.1:c.874G>C, XM_047449420.1:c.736G>C, XM_047449417.1:c.736G>C, NM_172098.1:c.874G>C, XM_047449419.1:c.715G>C, XR_007096080.1:n.1035G>C, XP_006710512.1:p.Ala294Pro, NP_001981.2:p.Ala292Pro, XP_011539303.1:p.Ala292Pro, XP_011539306.1:p.Ala248Pro, XP_011539301.1:p.Ala294Pro, XP_011539305.1:p.Ala248Pro, NP_001269491.1:p.Ala239Pro, NP_001269490.1:p.Ala246Pro, XP_024309755.1:p.Ala294Pro, XP_024309763.1:p.Ala292Pro, NP_001269489.1:p.Ala246Pro, XP_047305372.1:p.Ala292Pro, XP_047305376.1:p.Ala246Pro, XP_047305373.1:p.Ala246Pro, XP_047305375.1:p.Ala239Pro

                8.

                rs1463582273 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  1:28042628 (GRCh38)
                  1:28369139 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:28042627:T:G
                  Gene:
                  EYA3 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.28042628T>G, NC_000001.10:g.28369139T>G, XM_006710449.4:c.106A>C, XM_006710449.3:c.106A>C, XM_006710449.2:c.106A>C, XM_006710449.1:c.106A>C, NM_001990.4:c.100A>C, NM_001990.3:c.100A>C, XM_011541001.4:c.100A>C, XM_011541001.3:c.100A>C, XM_011541001.2:c.100A>C, XM_011541001.1:c.100A>C, XM_011541004.3:c.106A>C, XM_011541004.2:c.106A>C, XM_011541004.1:c.106A>C, XM_011540999.3:c.106A>C, XM_011540999.2:c.106A>C, XM_011540999.1:c.106A>C, XM_011541003.3:c.106A>C, XM_011541003.2:c.106A>C, XM_011541003.1:c.106A>C, NM_001282561.2:c.100A>C, NM_001282561.1:c.100A>C, XM_024453987.2:c.106A>C, XM_024453987.1:c.106A>C, XM_024453995.2:c.100A>C, XM_024453995.1:c.100A>C, NR_104214.2:n.255A>C, NR_104214.1:n.282A>C, NM_001282560.2:c.100A>C, NM_001282560.1:c.100A>C, XM_047449416.1:c.100A>C, XM_047449420.1:c.100A>C, XM_047449417.1:c.100A>C, NM_172098.1:c.100A>C, XR_007096080.1:n.261A>C, XP_006710512.1:p.Ser36Arg, NP_001981.2:p.Ser34Arg, XP_011539303.1:p.Ser34Arg, XP_011539306.1:p.Ser36Arg, XP_011539301.1:p.Ser36Arg, XP_011539305.1:p.Ser36Arg, NP_001269490.1:p.Ser34Arg, XP_024309755.1:p.Ser36Arg, XP_024309763.1:p.Ser34Arg, NP_001269489.1:p.Ser34Arg, XP_047305372.1:p.Ser34Arg, XP_047305376.1:p.Ser34Arg, XP_047305373.1:p.Ser34Arg

                  9.

                  rs1462601576 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:27988643 (GRCh38)
                    1:28315154 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:27988642:T:G
                    Gene:
                    EYA3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.27988643T>G, NC_000001.10:g.28315154T>G, XM_006710449.4:c.1438A>C, XM_006710449.3:c.1438A>C, XM_006710449.2:c.1438A>C, XM_006710449.1:c.1438A>C, NM_001990.4:c.1432A>C, NM_001990.3:c.1432A>C, XM_011541001.4:c.1432A>C, XM_011541001.3:c.1432A>C, XM_011541001.2:c.1432A>C, XM_011541001.1:c.1432A>C, XM_011541004.3:c.1300A>C, XM_011541004.2:c.1300A>C, XM_011541004.1:c.1300A>C, XM_011540999.3:c.1438A>C, XM_011540999.2:c.1438A>C, XM_011540999.1:c.1438A>C, XM_011541003.3:c.1300A>C, XM_011541003.2:c.1300A>C, XM_011541003.1:c.1300A>C, NM_001282562.2:c.1273A>C, NM_001282562.1:c.1273A>C, NM_001282561.2:c.1294A>C, NM_001282561.1:c.1294A>C, XM_024453987.2:c.1438A>C, XM_024453987.1:c.1438A>C, XM_024453995.2:c.1432A>C, XM_024453995.1:c.1432A>C, NR_104214.2:n.1655A>C, NR_104214.1:n.1682A>C, NM_001282560.2:c.1294A>C, NM_001282560.1:c.1294A>C, XM_047449416.1:c.1432A>C, XM_047449420.1:c.1294A>C, XM_047449417.1:c.1294A>C, NM_172098.1:c.*411A>C, XM_047449419.1:c.1273A>C, XP_006710512.1:p.Asn480His, NP_001981.2:p.Asn478His, XP_011539303.1:p.Asn478His, XP_011539306.1:p.Asn434His, XP_011539301.1:p.Asn480His, XP_011539305.1:p.Asn434His, NP_001269491.1:p.Asn425His, NP_001269490.1:p.Asn432His, XP_024309755.1:p.Asn480His, XP_024309763.1:p.Asn478His, NP_001269489.1:p.Asn432His, XP_047305372.1:p.Asn478His, XP_047305376.1:p.Asn432His, XP_047305373.1:p.Asn432His, XP_047305375.1:p.Asn425His

                    10.

                    rs1462314520 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:27978398 (GRCh38)
                      1:28304909 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:27978397:T:C
                      Gene:
                      EYA3 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000001.11:g.27978398T>C, NC_000001.10:g.28304909T>C, XM_006710449.4:c.1623A>G, XM_006710449.3:c.1623A>G, XM_006710449.2:c.1623A>G, XM_006710449.1:c.1623A>G, NM_001990.4:c.1617A>G, NM_001990.3:c.1617A>G, XM_011541001.4:c.1617A>G, XM_011541001.3:c.1617A>G, XM_011541001.2:c.1617A>G, XM_011541001.1:c.1617A>G, XM_011541004.3:c.1485A>G, XM_011541004.2:c.1485A>G, XM_011541004.1:c.1485A>G, XM_011540999.3:c.1623A>G, XM_011540999.2:c.1623A>G, XM_011540999.1:c.1623A>G, XM_011541003.3:c.1485A>G, XM_011541003.2:c.1485A>G, XM_011541003.1:c.1485A>G, NM_001282562.2:c.1458A>G, NM_001282562.1:c.1458A>G, NM_001282561.2:c.1479A>G, NM_001282561.1:c.1479A>G, XM_024453987.2:c.1623A>G, XM_024453987.1:c.1623A>G, XM_024453995.2:c.1617A>G, XM_024453995.1:c.1617A>G, NM_001282560.2:c.1479A>G, NM_001282560.1:c.1479A>G, XM_047449416.1:c.1617A>G, XM_047449420.1:c.1479A>G, XM_047449417.1:c.1479A>G, XM_047449419.1:c.1458A>G

                      11.

                      rs1461123823 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:28042625 (GRCh38)
                        1:28369136 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:28042624:C:T
                        Gene:
                        EYA3 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.28042625C>T, NC_000001.10:g.28369136C>T, XM_006710449.4:c.109G>A, XM_006710449.3:c.109G>A, XM_006710449.2:c.109G>A, XM_006710449.1:c.109G>A, NM_001990.4:c.103G>A, NM_001990.3:c.103G>A, XM_011541001.4:c.103G>A, XM_011541001.3:c.103G>A, XM_011541001.2:c.103G>A, XM_011541001.1:c.103G>A, XM_011541004.3:c.109G>A, XM_011541004.2:c.109G>A, XM_011541004.1:c.109G>A, XM_011540999.3:c.109G>A, XM_011540999.2:c.109G>A, XM_011540999.1:c.109G>A, XM_011541003.3:c.109G>A, XM_011541003.2:c.109G>A, XM_011541003.1:c.109G>A, NM_001282561.2:c.103G>A, NM_001282561.1:c.103G>A, XM_024453987.2:c.109G>A, XM_024453987.1:c.109G>A, XM_024453995.2:c.103G>A, XM_024453995.1:c.103G>A, NR_104214.2:n.258G>A, NR_104214.1:n.285G>A, NM_001282560.2:c.103G>A, NM_001282560.1:c.103G>A, XM_047449416.1:c.103G>A, XM_047449420.1:c.103G>A, XM_047449417.1:c.103G>A, NM_172098.1:c.103G>A, XR_007096080.1:n.264G>A, XP_006710512.1:p.Asp37Asn, NP_001981.2:p.Asp35Asn, XP_011539303.1:p.Asp35Asn, XP_011539306.1:p.Asp37Asn, XP_011539301.1:p.Asp37Asn, XP_011539305.1:p.Asp37Asn, NP_001269490.1:p.Asp35Asn, XP_024309755.1:p.Asp37Asn, XP_024309763.1:p.Asp35Asn, NP_001269489.1:p.Asp35Asn, XP_047305372.1:p.Asp35Asn, XP_047305376.1:p.Asp35Asn, XP_047305373.1:p.Asp35Asn

                        12.

                        rs1460069200 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:27978439 (GRCh38)
                          1:28304950 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:27978438:A:G
                          Gene:
                          EYA3 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.27978439A>G, NC_000001.10:g.28304950A>G, XM_006710449.4:c.1582T>C, XM_006710449.3:c.1582T>C, XM_006710449.2:c.1582T>C, XM_006710449.1:c.1582T>C, NM_001990.4:c.1576T>C, NM_001990.3:c.1576T>C, XM_011541001.4:c.1576T>C, XM_011541001.3:c.1576T>C, XM_011541001.2:c.1576T>C, XM_011541001.1:c.1576T>C, XM_011541004.3:c.1444T>C, XM_011541004.2:c.1444T>C, XM_011541004.1:c.1444T>C, XM_011540999.3:c.1582T>C, XM_011540999.2:c.1582T>C, XM_011540999.1:c.1582T>C, XM_011541003.3:c.1444T>C, XM_011541003.2:c.1444T>C, XM_011541003.1:c.1444T>C, NM_001282562.2:c.1417T>C, NM_001282562.1:c.1417T>C, NM_001282561.2:c.1438T>C, NM_001282561.1:c.1438T>C, XM_024453987.2:c.1582T>C, XM_024453987.1:c.1582T>C, XM_024453995.2:c.1576T>C, XM_024453995.1:c.1576T>C, NM_001282560.2:c.1438T>C, NM_001282560.1:c.1438T>C, XM_047449416.1:c.1576T>C, XM_047449420.1:c.1438T>C, XM_047449417.1:c.1438T>C, XM_047449419.1:c.1417T>C, XP_006710512.1:p.Phe528Leu, NP_001981.2:p.Phe526Leu, XP_011539303.1:p.Phe526Leu, XP_011539306.1:p.Phe482Leu, XP_011539301.1:p.Phe528Leu, XP_011539305.1:p.Phe482Leu, NP_001269491.1:p.Phe473Leu, NP_001269490.1:p.Phe480Leu, XP_024309755.1:p.Phe528Leu, XP_024309763.1:p.Phe526Leu, NP_001269489.1:p.Phe480Leu, XP_047305372.1:p.Phe526Leu, XP_047305376.1:p.Phe480Leu, XP_047305373.1:p.Phe480Leu, XP_047305375.1:p.Phe473Leu

                          13.

                          rs1458497523 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:28011012 (GRCh38)
                            1:28337523 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:28011011:T:C
                            Gene:
                            EYA3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.28011012T>C, NC_000001.10:g.28337523T>C, XM_006710449.4:c.850A>G, XM_006710449.3:c.850A>G, XM_006710449.2:c.850A>G, XM_006710449.1:c.850A>G, NM_001990.4:c.844A>G, NM_001990.3:c.844A>G, XM_011541001.4:c.844A>G, XM_011541001.3:c.844A>G, XM_011541001.2:c.844A>G, XM_011541001.1:c.844A>G, XM_011541004.3:c.712A>G, XM_011541004.2:c.712A>G, XM_011541004.1:c.712A>G, XM_011540999.3:c.850A>G, XM_011540999.2:c.850A>G, XM_011540999.1:c.850A>G, XM_011541003.3:c.712A>G, XM_011541003.2:c.712A>G, XM_011541003.1:c.712A>G, NM_001282562.2:c.685A>G, NM_001282562.1:c.685A>G, NM_001282561.2:c.706A>G, NM_001282561.1:c.706A>G, XM_024453987.2:c.850A>G, XM_024453987.1:c.850A>G, XM_024453995.2:c.844A>G, XM_024453995.1:c.844A>G, NR_104214.2:n.999A>G, NR_104214.1:n.1026A>G, NM_001282560.2:c.706A>G, NM_001282560.1:c.706A>G, XM_047449416.1:c.844A>G, XM_047449420.1:c.706A>G, XM_047449417.1:c.706A>G, NM_172098.1:c.844A>G, XM_047449419.1:c.685A>G, XR_007096080.1:n.1005A>G, XP_006710512.1:p.Met284Val, NP_001981.2:p.Met282Val, XP_011539303.1:p.Met282Val, XP_011539306.1:p.Met238Val, XP_011539301.1:p.Met284Val, XP_011539305.1:p.Met238Val, NP_001269491.1:p.Met229Val, NP_001269490.1:p.Met236Val, XP_024309755.1:p.Met284Val, XP_024309763.1:p.Met282Val, NP_001269489.1:p.Met236Val, XP_047305372.1:p.Met282Val, XP_047305376.1:p.Met236Val, XP_047305373.1:p.Met236Val, XP_047305375.1:p.Met229Val

                            14.

                            rs1456424686 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              1:28017224 (GRCh38)
                              1:28343735 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:28017223:G:C
                              Gene:
                              EYA3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000001.11:g.28017224G>C, NC_000001.10:g.28343735G>C, XM_006710449.4:c.521C>G, XM_006710449.3:c.521C>G, XM_006710449.2:c.521C>G, XM_006710449.1:c.521C>G, NM_001990.4:c.515C>G, NM_001990.3:c.515C>G, XM_011541001.4:c.515C>G, XM_011541001.3:c.515C>G, XM_011541001.2:c.515C>G, XM_011541001.1:c.515C>G, XM_011541004.3:c.383C>G, XM_011541004.2:c.383C>G, XM_011541004.1:c.383C>G, XM_011540999.3:c.521C>G, XM_011540999.2:c.521C>G, XM_011540999.1:c.521C>G, XM_011541003.3:c.383C>G, XM_011541003.2:c.383C>G, XM_011541003.1:c.383C>G, NM_001282562.2:c.356C>G, NM_001282562.1:c.356C>G, NM_001282561.2:c.377C>G, NM_001282561.1:c.377C>G, XM_024453987.2:c.521C>G, XM_024453987.1:c.521C>G, XM_024453995.2:c.515C>G, XM_024453995.1:c.515C>G, NR_104214.2:n.670C>G, NR_104214.1:n.697C>G, NM_001282560.2:c.377C>G, NM_001282560.1:c.377C>G, XM_047449416.1:c.515C>G, XM_047449420.1:c.377C>G, XM_047449417.1:c.377C>G, NM_172098.1:c.515C>G, XM_047449419.1:c.356C>G, XR_007096080.1:n.676C>G, XP_006710512.1:p.Ala174Gly, NP_001981.2:p.Ala172Gly, XP_011539303.1:p.Ala172Gly, XP_011539306.1:p.Ala128Gly, XP_011539301.1:p.Ala174Gly, XP_011539305.1:p.Ala128Gly, NP_001269491.1:p.Ala119Gly, NP_001269490.1:p.Ala126Gly, XP_024309755.1:p.Ala174Gly, XP_024309763.1:p.Ala172Gly, NP_001269489.1:p.Ala126Gly, XP_047305372.1:p.Ala172Gly, XP_047305376.1:p.Ala126Gly, XP_047305373.1:p.Ala126Gly, XP_047305375.1:p.Ala119Gly

                              15.

                              rs1453918950 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                1:27989785 (GRCh38)
                                1:28316296 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:27989784:C:A
                                Gene:
                                EYA3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.27989785C>A, NC_000001.10:g.28316296C>A, XM_006710449.4:c.1336G>T, XM_006710449.3:c.1336G>T, XM_006710449.2:c.1336G>T, XM_006710449.1:c.1336G>T, NM_001990.4:c.1330G>T, NM_001990.3:c.1330G>T, XM_011541001.4:c.1330G>T, XM_011541001.3:c.1330G>T, XM_011541001.2:c.1330G>T, XM_011541001.1:c.1330G>T, XM_011541004.3:c.1198G>T, XM_011541004.2:c.1198G>T, XM_011541004.1:c.1198G>T, XM_011540999.3:c.1336G>T, XM_011540999.2:c.1336G>T, XM_011540999.1:c.1336G>T, XM_011541003.3:c.1198G>T, XM_011541003.2:c.1198G>T, XM_011541003.1:c.1198G>T, NM_001282562.2:c.1171G>T, NM_001282562.1:c.1171G>T, NM_001282561.2:c.1192G>T, NM_001282561.1:c.1192G>T, XM_024453987.2:c.1336G>T, XM_024453987.1:c.1336G>T, XM_024453995.2:c.1330G>T, XM_024453995.1:c.1330G>T, NR_104214.2:n.1553G>T, NR_104214.1:n.1580G>T, NM_001282560.2:c.1192G>T, NM_001282560.1:c.1192G>T, XM_047449416.1:c.1330G>T, XM_047449420.1:c.1192G>T, XM_047449417.1:c.1192G>T, NM_172098.1:c.*309G>T, XM_047449419.1:c.1171G>T, XP_006710512.1:p.Ala446Ser, NP_001981.2:p.Ala444Ser, XP_011539303.1:p.Ala444Ser, XP_011539306.1:p.Ala400Ser, XP_011539301.1:p.Ala446Ser, XP_011539305.1:p.Ala400Ser, NP_001269491.1:p.Ala391Ser, NP_001269490.1:p.Ala398Ser, XP_024309755.1:p.Ala446Ser, XP_024309763.1:p.Ala444Ser, NP_001269489.1:p.Ala398Ser, XP_047305372.1:p.Ala444Ser, XP_047305376.1:p.Ala398Ser, XP_047305373.1:p.Ala398Ser, XP_047305375.1:p.Ala391Ser

                                16.

                                rs1448302405 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:28013212 (GRCh38)
                                  1:28339723 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:28013211:G:A
                                  Gene:
                                  EYA3 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.28013212G>A, NC_000001.10:g.28339723G>A, XM_006710449.4:c.674C>T, XM_006710449.3:c.674C>T, XM_006710449.2:c.674C>T, XM_006710449.1:c.674C>T, NM_001990.4:c.668C>T, NM_001990.3:c.668C>T, XM_011541001.4:c.668C>T, XM_011541001.3:c.668C>T, XM_011541001.2:c.668C>T, XM_011541001.1:c.668C>T, XM_011541004.3:c.536C>T, XM_011541004.2:c.536C>T, XM_011541004.1:c.536C>T, XM_011540999.3:c.674C>T, XM_011540999.2:c.674C>T, XM_011540999.1:c.674C>T, XM_011541003.3:c.536C>T, XM_011541003.2:c.536C>T, XM_011541003.1:c.536C>T, NM_001282562.2:c.509C>T, NM_001282562.1:c.509C>T, NM_001282561.2:c.530C>T, NM_001282561.1:c.530C>T, XM_024453987.2:c.674C>T, XM_024453987.1:c.674C>T, XM_024453995.2:c.668C>T, XM_024453995.1:c.668C>T, NR_104214.2:n.823C>T, NR_104214.1:n.850C>T, NM_001282560.2:c.530C>T, NM_001282560.1:c.530C>T, XM_047449416.1:c.668C>T, XM_047449420.1:c.530C>T, XM_047449417.1:c.530C>T, NM_172098.1:c.668C>T, XM_047449419.1:c.509C>T, XR_007096080.1:n.829C>T, XP_006710512.1:p.Thr225Ile, NP_001981.2:p.Thr223Ile, XP_011539303.1:p.Thr223Ile, XP_011539306.1:p.Thr179Ile, XP_011539301.1:p.Thr225Ile, XP_011539305.1:p.Thr179Ile, NP_001269491.1:p.Thr170Ile, NP_001269490.1:p.Thr177Ile, XP_024309755.1:p.Thr225Ile, XP_024309763.1:p.Thr223Ile, NP_001269489.1:p.Thr177Ile, XP_047305372.1:p.Thr223Ile, XP_047305376.1:p.Thr177Ile, XP_047305373.1:p.Thr177Ile, XP_047305375.1:p.Thr170Ile

                                  17.

                                  rs1444724901 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:28035673 (GRCh38)
                                    1:28362184 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:28035672:C:T
                                    Gene:
                                    EYA3 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.28035673C>T, NC_000001.10:g.28362184C>T, XM_006710449.4:c.238G>A, XM_006710449.3:c.238G>A, XM_006710449.2:c.238G>A, XM_006710449.1:c.238G>A, NM_001990.4:c.232G>A, NM_001990.3:c.232G>A, XM_011541001.4:c.232G>A, XM_011541001.3:c.232G>A, XM_011541001.2:c.232G>A, XM_011541001.1:c.232G>A, XM_011541004.3:c.238G>A, XM_011541004.2:c.238G>A, XM_011541004.1:c.238G>A, XM_011540999.3:c.238G>A, XM_011540999.2:c.238G>A, XM_011540999.1:c.238G>A, XM_011541003.3:c.238G>A, XM_011541003.2:c.238G>A, XM_011541003.1:c.238G>A, NM_001282562.2:c.73G>A, NM_001282562.1:c.73G>A, NM_001282561.2:c.232G>A, NM_001282561.1:c.232G>A, XM_024453987.2:c.238G>A, XM_024453987.1:c.238G>A, XM_024453995.2:c.232G>A, XM_024453995.1:c.232G>A, NR_104214.2:n.387G>A, NR_104214.1:n.414G>A, NM_001282560.2:c.232G>A, NM_001282560.1:c.232G>A, XM_047449416.1:c.232G>A, XM_047449420.1:c.232G>A, XM_047449417.1:c.232G>A, NM_172098.1:c.232G>A, XM_047449419.1:c.73G>A, XR_007096080.1:n.393G>A, XP_006710512.1:p.Ala80Thr, NP_001981.2:p.Ala78Thr, XP_011539303.1:p.Ala78Thr, XP_011539306.1:p.Ala80Thr, XP_011539301.1:p.Ala80Thr, XP_011539305.1:p.Ala80Thr, NP_001269491.1:p.Ala25Thr, NP_001269490.1:p.Ala78Thr, XP_024309755.1:p.Ala80Thr, XP_024309763.1:p.Ala78Thr, NP_001269489.1:p.Ala78Thr, XP_047305372.1:p.Ala78Thr, XP_047305376.1:p.Ala78Thr, XP_047305373.1:p.Ala78Thr, XP_047305375.1:p.Ala25Thr

                                    18.

                                    rs1443661652 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TCAGAA>- [Show Flanks]
                                      Chromosome:
                                      1:27988634 (GRCh38)
                                      1:28315145 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:27988632:ATCAGAA:A
                                      Gene:
                                      EYA3 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.27988634_27988639del, NC_000001.10:g.28315145_28315150del, XM_006710449.4:c.1443_1448del, XM_006710449.3:c.1443_1448del, XM_006710449.2:c.1443_1448del, XM_006710449.1:c.1443_1448del, NM_001990.4:c.1437_1442del, NM_001990.3:c.1437_1442del, XM_011541001.4:c.1437_1442del, XM_011541001.3:c.1437_1442del, XM_011541001.2:c.1437_1442del, XM_011541001.1:c.1437_1442del, XM_011541004.3:c.1305_1310del, XM_011541004.2:c.1305_1310del, XM_011541004.1:c.1305_1310del, XM_011540999.3:c.1443_1448del, XM_011540999.2:c.1443_1448del, XM_011540999.1:c.1443_1448del, XM_011541003.3:c.1305_1310del, XM_011541003.2:c.1305_1310del, XM_011541003.1:c.1305_1310del, NM_001282562.2:c.1278_1283del, NM_001282562.1:c.1278_1283del, NM_001282561.2:c.1299_1304del, NM_001282561.1:c.1299_1304del, XM_024453987.2:c.1443_1448del, XM_024453987.1:c.1443_1448del, XM_024453995.2:c.1437_1442del, XM_024453995.1:c.1437_1442del, NR_104214.2:n.1660_1665del, NR_104214.1:n.1687_1692del, NM_001282560.2:c.1299_1304del, NM_001282560.1:c.1299_1304del, XM_047449416.1:c.1437_1442del, XM_047449420.1:c.1299_1304del, XM_047449417.1:c.1299_1304del, NM_172098.1:c.*416_*421del, XM_047449419.1:c.1278_1283del, XP_006710512.1:p.Leu482_Ile483del, NP_001981.2:p.Leu480_Ile481del, XP_011539303.1:p.Leu480_Ile481del, XP_011539306.1:p.Leu436_Ile437del, XP_011539301.1:p.Leu482_Ile483del, XP_011539305.1:p.Leu436_Ile437del, NP_001269491.1:p.Leu427_Ile428del, NP_001269490.1:p.Leu434_Ile435del, XP_024309755.1:p.Leu482_Ile483del, XP_024309763.1:p.Leu480_Ile481del, NP_001269489.1:p.Leu434_Ile435del, XP_047305372.1:p.Leu480_Ile481del, XP_047305376.1:p.Leu434_Ile435del, XP_047305373.1:p.Leu434_Ile435del, XP_047305375.1:p.Leu427_Ile428del

                                      19.

                                      rs1440858350 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:28035605 (GRCh38)
                                        1:28362116 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:28035604:C:T
                                        Gene:
                                        EYA3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.28035605C>T, NC_000001.10:g.28362116C>T, XM_006710449.4:c.306G>A, XM_006710449.3:c.306G>A, XM_006710449.2:c.306G>A, XM_006710449.1:c.306G>A, NM_001990.4:c.300G>A, NM_001990.3:c.300G>A, XM_011541001.4:c.300G>A, XM_011541001.3:c.300G>A, XM_011541001.2:c.300G>A, XM_011541001.1:c.300G>A, XM_011541004.3:c.306G>A, XM_011541004.2:c.306G>A, XM_011541004.1:c.306G>A, XM_011540999.3:c.306G>A, XM_011540999.2:c.306G>A, XM_011540999.1:c.306G>A, XM_011541003.3:c.306G>A, XM_011541003.2:c.306G>A, XM_011541003.1:c.306G>A, NM_001282562.2:c.141G>A, NM_001282562.1:c.141G>A, NM_001282561.2:c.300G>A, NM_001282561.1:c.300G>A, XM_024453987.2:c.306G>A, XM_024453987.1:c.306G>A, XM_024453995.2:c.300G>A, XM_024453995.1:c.300G>A, NR_104214.2:n.455G>A, NR_104214.1:n.482G>A, NM_001282560.2:c.300G>A, NM_001282560.1:c.300G>A, XM_047449416.1:c.300G>A, XM_047449420.1:c.300G>A, XM_047449417.1:c.300G>A, NM_172098.1:c.300G>A, XM_047449419.1:c.141G>A, XR_007096080.1:n.461G>A

                                        20.

                                        rs1440736484 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:28042631 (GRCh38)
                                          1:28369142 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:28042630:C:T
                                          Gene:
                                          EYA3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.28042631C>T, NC_000001.10:g.28369142C>T, XM_006710449.4:c.103G>A, XM_006710449.3:c.103G>A, XM_006710449.2:c.103G>A, XM_006710449.1:c.103G>A, NM_001990.4:c.97G>A, NM_001990.3:c.97G>A, XM_011541001.4:c.97G>A, XM_011541001.3:c.97G>A, XM_011541001.2:c.97G>A, XM_011541001.1:c.97G>A, XM_011541004.3:c.103G>A, XM_011541004.2:c.103G>A, XM_011541004.1:c.103G>A, XM_011540999.3:c.103G>A, XM_011540999.2:c.103G>A, XM_011540999.1:c.103G>A, XM_011541003.3:c.103G>A, XM_011541003.2:c.103G>A, XM_011541003.1:c.103G>A, NM_001282561.2:c.97G>A, NM_001282561.1:c.97G>A, XM_024453987.2:c.103G>A, XM_024453987.1:c.103G>A, XM_024453995.2:c.97G>A, XM_024453995.1:c.97G>A, NR_104214.2:n.252G>A, NR_104214.1:n.279G>A, NM_001282560.2:c.97G>A, NM_001282560.1:c.97G>A, XM_047449416.1:c.97G>A, XM_047449420.1:c.97G>A, XM_047449417.1:c.97G>A, NM_172098.1:c.97G>A, XR_007096080.1:n.258G>A, XP_006710512.1:p.Val35Ile, NP_001981.2:p.Val33Ile, XP_011539303.1:p.Val33Ile, XP_011539306.1:p.Val35Ile, XP_011539301.1:p.Val35Ile, XP_011539305.1:p.Val35Ile, NP_001269490.1:p.Val33Ile, XP_024309755.1:p.Val35Ile, XP_024309763.1:p.Val33Ile, NP_001269489.1:p.Val33Ile, XP_047305372.1:p.Val33Ile, XP_047305376.1:p.Val33Ile, XP_047305373.1:p.Val33Ile

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