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Items: 1 to 20 of 249

1.

rs1490930864 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    3:58636362 (GRCh38)
    3:58622089 (GRCh37)
    Canonical SPDI:
    NC_000003.12:58636361:G:T
    Gene:
    FAM3D (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.58636362G>T, NC_000003.11:g.58622089G>T, XM_005264862.5:c.517C>A, XM_005264862.4:c.517C>A, XM_005264862.3:c.517C>A, XM_005264862.2:c.517C>A, XM_005264862.1:c.517C>A, XM_005264864.5:c.514C>A, XM_005264864.4:c.514C>A, XM_005264864.3:c.514C>A, XM_005264864.2:c.514C>A, XM_005264864.1:c.514C>A, XM_005264863.5:c.514C>A, XM_005264863.4:c.514C>A, XM_005264863.3:c.514C>A, XM_005264863.2:c.514C>A, XM_005264863.1:c.514C>A, XM_011533349.4:c.535C>A, XM_011533349.3:c.535C>A, XM_011533349.2:c.535C>A, XM_011533349.1:c.535C>A, XM_006712967.4:c.406C>A, XM_006712967.3:c.406C>A, XM_006712967.2:c.406C>A, XM_006712967.1:c.406C>A, XM_006712965.4:c.517C>A, XM_006712965.3:c.517C>A, XM_006712965.2:c.517C>A, XM_006712965.1:c.517C>A, XM_011533351.3:c.517C>A, XM_011533351.2:c.517C>A, XM_011533351.1:c.517C>A, XM_011533348.3:c.535C>A, XM_011533348.2:c.535C>A, XM_011533348.1:c.535C>A, XM_011533350.3:c.532C>A, XM_011533350.2:c.532C>A, XM_011533350.1:c.532C>A, NM_138805.3:c.517C>A, NM_138805.2:c.517C>A, XM_011533353.3:c.409C>A, XM_011533353.2:c.409C>A, XM_011533353.1:c.409C>A, XM_011533354.3:c.406C>A, XM_011533354.2:c.406C>A, XM_011533354.1:c.406C>A, XM_011533352.3:c.409C>A, XM_011533352.2:c.409C>A, XM_011533352.1:c.409C>A, XM_047447431.1:c.535C>A, XM_047447433.1:c.409C>A, XM_047447435.1:c.406C>A, XM_047447432.1:c.535C>A, XM_047447434.1:c.409C>A, XM_047447436.1:c.406C>A, XP_005264919.1:p.Leu173Met, XP_005264921.1:p.Leu172Met, XP_005264920.1:p.Leu172Met, XP_011531651.1:p.Leu179Met, XP_006713030.1:p.Leu136Met, XP_006713028.1:p.Leu173Met, XP_011531653.1:p.Leu173Met, XP_011531650.1:p.Leu179Met, XP_011531652.1:p.Leu178Met, NP_620160.1:p.Leu173Met, XP_011531655.1:p.Leu137Met, XP_011531656.1:p.Leu136Met, XP_011531654.1:p.Leu137Met, XP_047303387.1:p.Leu179Met, XP_047303389.1:p.Leu137Met, XP_047303391.1:p.Leu136Met, XP_047303388.1:p.Leu179Met, XP_047303390.1:p.Leu137Met, XP_047303392.1:p.Leu136Met

    2.

    rs1486155702 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:58645601 (GRCh38)
      3:58631328 (GRCh37)
      Canonical SPDI:
      NC_000003.12:58645600:G:A
      Gene:
      FAM3D (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000111/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.58645601G>A, NC_000003.11:g.58631328G>A, XM_005264862.5:c.171C>T, XM_005264862.4:c.171C>T, XM_005264862.3:c.171C>T, XM_005264862.2:c.171C>T, XM_005264862.1:c.171C>T, XM_005264864.5:c.168C>T, XM_005264864.4:c.168C>T, XM_005264864.3:c.168C>T, XM_005264864.2:c.168C>T, XM_005264864.1:c.168C>T, XM_005264863.5:c.168C>T, XM_005264863.4:c.168C>T, XM_005264863.3:c.168C>T, XM_005264863.2:c.168C>T, XM_005264863.1:c.168C>T, XM_011533349.4:c.189C>T, XM_011533349.3:c.189C>T, XM_011533349.2:c.189C>T, XM_011533349.1:c.189C>T, XM_006712967.4:c.60C>T, XM_006712967.3:c.60C>T, XM_006712967.2:c.60C>T, XM_006712967.1:c.60C>T, XM_006712965.4:c.171C>T, XM_006712965.3:c.171C>T, XM_006712965.2:c.171C>T, XM_006712965.1:c.171C>T, XM_011533351.3:c.171C>T, XM_011533351.2:c.171C>T, XM_011533351.1:c.171C>T, XM_011533348.3:c.189C>T, XM_011533348.2:c.189C>T, XM_011533348.1:c.189C>T, XM_011533350.3:c.186C>T, XM_011533350.2:c.186C>T, XM_011533350.1:c.186C>T, NM_138805.3:c.171C>T, NM_138805.2:c.171C>T, XM_011533353.3:c.63C>T, XM_011533353.2:c.63C>T, XM_011533353.1:c.63C>T, XM_011533354.3:c.60C>T, XM_011533354.2:c.60C>T, XM_011533354.1:c.60C>T, XM_011533352.3:c.63C>T, XM_011533352.2:c.63C>T, XM_011533352.1:c.63C>T, XM_047447431.1:c.189C>T, XM_047447433.1:c.63C>T, XM_047447435.1:c.60C>T, XM_047447432.1:c.189C>T, XM_047447434.1:c.63C>T, XM_047447436.1:c.60C>T

      3.

      rs1483651405 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:58636369 (GRCh38)
        3:58622096 (GRCh37)
        Canonical SPDI:
        NC_000003.12:58636368:T:C
        Gene:
        FAM3D (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0./0 (GnomAD)
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.58636369T>C, NC_000003.11:g.58622096T>C, XM_005264862.5:c.510A>G, XM_005264862.4:c.510A>G, XM_005264862.3:c.510A>G, XM_005264862.2:c.510A>G, XM_005264862.1:c.510A>G, XM_005264864.5:c.507A>G, XM_005264864.4:c.507A>G, XM_005264864.3:c.507A>G, XM_005264864.2:c.507A>G, XM_005264864.1:c.507A>G, XM_005264863.5:c.507A>G, XM_005264863.4:c.507A>G, XM_005264863.3:c.507A>G, XM_005264863.2:c.507A>G, XM_005264863.1:c.507A>G, XM_011533349.4:c.528A>G, XM_011533349.3:c.528A>G, XM_011533349.2:c.528A>G, XM_011533349.1:c.528A>G, XM_006712967.4:c.399A>G, XM_006712967.3:c.399A>G, XM_006712967.2:c.399A>G, XM_006712967.1:c.399A>G, XM_006712965.4:c.510A>G, XM_006712965.3:c.510A>G, XM_006712965.2:c.510A>G, XM_006712965.1:c.510A>G, XM_011533351.3:c.510A>G, XM_011533351.2:c.510A>G, XM_011533351.1:c.510A>G, XM_011533348.3:c.528A>G, XM_011533348.2:c.528A>G, XM_011533348.1:c.528A>G, XM_011533350.3:c.525A>G, XM_011533350.2:c.525A>G, XM_011533350.1:c.525A>G, NM_138805.3:c.510A>G, NM_138805.2:c.510A>G, XM_011533353.3:c.402A>G, XM_011533353.2:c.402A>G, XM_011533353.1:c.402A>G, XM_011533354.3:c.399A>G, XM_011533354.2:c.399A>G, XM_011533354.1:c.399A>G, XM_011533352.3:c.402A>G, XM_011533352.2:c.402A>G, XM_011533352.1:c.402A>G, XM_047447431.1:c.528A>G, XM_047447433.1:c.402A>G, XM_047447435.1:c.399A>G, XM_047447432.1:c.528A>G, XM_047447434.1:c.402A>G, XM_047447436.1:c.399A>G

        4.

        rs1477394537 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:58636317 (GRCh38)
          3:58622044 (GRCh37)
          Canonical SPDI:
          NC_000003.12:58636316:T:C
          Gene:
          FAM3D (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)
          HGVS:
          NC_000003.12:g.58636317T>C, NC_000003.11:g.58622044T>C, XM_005264862.5:c.562A>G, XM_005264862.4:c.562A>G, XM_005264862.3:c.562A>G, XM_005264862.2:c.562A>G, XM_005264862.1:c.562A>G, XM_005264864.5:c.559A>G, XM_005264864.4:c.559A>G, XM_005264864.3:c.559A>G, XM_005264864.2:c.559A>G, XM_005264864.1:c.559A>G, XM_005264863.5:c.559A>G, XM_005264863.4:c.559A>G, XM_005264863.3:c.559A>G, XM_005264863.2:c.559A>G, XM_005264863.1:c.559A>G, XM_011533349.4:c.580A>G, XM_011533349.3:c.580A>G, XM_011533349.2:c.580A>G, XM_011533349.1:c.580A>G, XM_006712967.4:c.451A>G, XM_006712967.3:c.451A>G, XM_006712967.2:c.451A>G, XM_006712967.1:c.451A>G, XM_006712965.4:c.562A>G, XM_006712965.3:c.562A>G, XM_006712965.2:c.562A>G, XM_006712965.1:c.562A>G, XM_011533351.3:c.562A>G, XM_011533351.2:c.562A>G, XM_011533351.1:c.562A>G, XM_011533348.3:c.580A>G, XM_011533348.2:c.580A>G, XM_011533348.1:c.580A>G, XM_011533350.3:c.577A>G, XM_011533350.2:c.577A>G, XM_011533350.1:c.577A>G, NM_138805.3:c.562A>G, NM_138805.2:c.562A>G, XM_011533353.3:c.454A>G, XM_011533353.2:c.454A>G, XM_011533353.1:c.454A>G, XM_011533354.3:c.451A>G, XM_011533354.2:c.451A>G, XM_011533354.1:c.451A>G, XM_011533352.3:c.454A>G, XM_011533352.2:c.454A>G, XM_011533352.1:c.454A>G, XM_047447431.1:c.580A>G, XM_047447433.1:c.454A>G, XM_047447435.1:c.451A>G, XM_047447432.1:c.580A>G, XM_047447434.1:c.454A>G, XM_047447436.1:c.451A>G, XP_005264919.1:p.Arg188Gly, XP_005264921.1:p.Arg187Gly, XP_005264920.1:p.Arg187Gly, XP_011531651.1:p.Arg194Gly, XP_006713030.1:p.Arg151Gly, XP_006713028.1:p.Arg188Gly, XP_011531653.1:p.Arg188Gly, XP_011531650.1:p.Arg194Gly, XP_011531652.1:p.Arg193Gly, NP_620160.1:p.Arg188Gly, XP_011531655.1:p.Arg152Gly, XP_011531656.1:p.Arg151Gly, XP_011531654.1:p.Arg152Gly, XP_047303387.1:p.Arg194Gly, XP_047303389.1:p.Arg152Gly, XP_047303391.1:p.Arg151Gly, XP_047303388.1:p.Arg194Gly, XP_047303390.1:p.Arg152Gly, XP_047303392.1:p.Arg151Gly

          5.

          rs1477238932 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:58645615 (GRCh38)
            3:58631342 (GRCh37)
            Canonical SPDI:
            NC_000003.12:58645614:A:G
            Gene:
            FAM3D (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.58645615A>G, NC_000003.11:g.58631342A>G, XM_005264862.5:c.157T>C, XM_005264862.4:c.157T>C, XM_005264862.3:c.157T>C, XM_005264862.2:c.157T>C, XM_005264862.1:c.157T>C, XM_005264864.5:c.154T>C, XM_005264864.4:c.154T>C, XM_005264864.3:c.154T>C, XM_005264864.2:c.154T>C, XM_005264864.1:c.154T>C, XM_005264863.5:c.154T>C, XM_005264863.4:c.154T>C, XM_005264863.3:c.154T>C, XM_005264863.2:c.154T>C, XM_005264863.1:c.154T>C, XM_011533349.4:c.175T>C, XM_011533349.3:c.175T>C, XM_011533349.2:c.175T>C, XM_011533349.1:c.175T>C, XM_006712967.4:c.46T>C, XM_006712967.3:c.46T>C, XM_006712967.2:c.46T>C, XM_006712967.1:c.46T>C, XM_006712965.4:c.157T>C, XM_006712965.3:c.157T>C, XM_006712965.2:c.157T>C, XM_006712965.1:c.157T>C, XM_011533351.3:c.157T>C, XM_011533351.2:c.157T>C, XM_011533351.1:c.157T>C, XM_011533348.3:c.175T>C, XM_011533348.2:c.175T>C, XM_011533348.1:c.175T>C, XM_011533350.3:c.172T>C, XM_011533350.2:c.172T>C, XM_011533350.1:c.172T>C, NM_138805.3:c.157T>C, NM_138805.2:c.157T>C, XM_011533353.3:c.49T>C, XM_011533353.2:c.49T>C, XM_011533353.1:c.49T>C, XM_011533354.3:c.46T>C, XM_011533354.2:c.46T>C, XM_011533354.1:c.46T>C, XM_011533352.3:c.49T>C, XM_011533352.2:c.49T>C, XM_011533352.1:c.49T>C, XM_047447431.1:c.175T>C, XM_047447433.1:c.49T>C, XM_047447435.1:c.46T>C, XM_047447432.1:c.175T>C, XM_047447434.1:c.49T>C, XM_047447436.1:c.46T>C, XP_005264919.1:p.Tyr53His, XP_005264921.1:p.Tyr52His, XP_005264920.1:p.Tyr52His, XP_011531651.1:p.Tyr59His, XP_006713030.1:p.Tyr16His, XP_006713028.1:p.Tyr53His, XP_011531653.1:p.Tyr53His, XP_011531650.1:p.Tyr59His, XP_011531652.1:p.Tyr58His, NP_620160.1:p.Tyr53His, XP_011531655.1:p.Tyr17His, XP_011531656.1:p.Tyr16His, XP_011531654.1:p.Tyr17His, XP_047303387.1:p.Tyr59His, XP_047303389.1:p.Tyr17His, XP_047303391.1:p.Tyr16His, XP_047303388.1:p.Tyr59His, XP_047303390.1:p.Tyr17His, XP_047303392.1:p.Tyr16His

            6.

            rs1477050599 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              3:58636334 (GRCh38)
              3:58622061 (GRCh37)
              Canonical SPDI:
              NC_000003.12:58636333:A:G
              Gene:
              FAM3D (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000028/1 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.58636334A>G, NC_000003.11:g.58622061A>G, XM_005264862.5:c.545T>C, XM_005264862.4:c.545T>C, XM_005264862.3:c.545T>C, XM_005264862.2:c.545T>C, XM_005264862.1:c.545T>C, XM_005264864.5:c.542T>C, XM_005264864.4:c.542T>C, XM_005264864.3:c.542T>C, XM_005264864.2:c.542T>C, XM_005264864.1:c.542T>C, XM_005264863.5:c.542T>C, XM_005264863.4:c.542T>C, XM_005264863.3:c.542T>C, XM_005264863.2:c.542T>C, XM_005264863.1:c.542T>C, XM_011533349.4:c.563T>C, XM_011533349.3:c.563T>C, XM_011533349.2:c.563T>C, XM_011533349.1:c.563T>C, XM_006712967.4:c.434T>C, XM_006712967.3:c.434T>C, XM_006712967.2:c.434T>C, XM_006712967.1:c.434T>C, XM_006712965.4:c.545T>C, XM_006712965.3:c.545T>C, XM_006712965.2:c.545T>C, XM_006712965.1:c.545T>C, XM_011533351.3:c.545T>C, XM_011533351.2:c.545T>C, XM_011533351.1:c.545T>C, XM_011533348.3:c.563T>C, XM_011533348.2:c.563T>C, XM_011533348.1:c.563T>C, XM_011533350.3:c.560T>C, XM_011533350.2:c.560T>C, XM_011533350.1:c.560T>C, NM_138805.3:c.545T>C, NM_138805.2:c.545T>C, XM_011533353.3:c.437T>C, XM_011533353.2:c.437T>C, XM_011533353.1:c.437T>C, XM_011533354.3:c.434T>C, XM_011533354.2:c.434T>C, XM_011533354.1:c.434T>C, XM_011533352.3:c.437T>C, XM_011533352.2:c.437T>C, XM_011533352.1:c.437T>C, XM_047447431.1:c.563T>C, XM_047447433.1:c.437T>C, XM_047447435.1:c.434T>C, XM_047447432.1:c.563T>C, XM_047447434.1:c.437T>C, XM_047447436.1:c.434T>C, XP_005264919.1:p.Ile182Thr, XP_005264921.1:p.Ile181Thr, XP_005264920.1:p.Ile181Thr, XP_011531651.1:p.Ile188Thr, XP_006713030.1:p.Ile145Thr, XP_006713028.1:p.Ile182Thr, XP_011531653.1:p.Ile182Thr, XP_011531650.1:p.Ile188Thr, XP_011531652.1:p.Ile187Thr, NP_620160.1:p.Ile182Thr, XP_011531655.1:p.Ile146Thr, XP_011531656.1:p.Ile145Thr, XP_011531654.1:p.Ile146Thr, XP_047303387.1:p.Ile188Thr, XP_047303389.1:p.Ile146Thr, XP_047303391.1:p.Ile145Thr, XP_047303388.1:p.Ile188Thr, XP_047303390.1:p.Ile146Thr, XP_047303392.1:p.Ile145Thr

              7.

              rs1475588415 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:58637171 (GRCh38)
                3:58622898 (GRCh37)
                Canonical SPDI:
                NC_000003.12:58637170:A:G
                Gene:
                FAM3D (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.58637171A>G, NC_000003.11:g.58622898A>G, XM_005264862.5:c.428T>C, XM_005264862.4:c.428T>C, XM_005264862.3:c.428T>C, XM_005264862.2:c.428T>C, XM_005264862.1:c.428T>C, XM_005264864.5:c.425T>C, XM_005264864.4:c.425T>C, XM_005264864.3:c.425T>C, XM_005264864.2:c.425T>C, XM_005264864.1:c.425T>C, XM_005264863.5:c.425T>C, XM_005264863.4:c.425T>C, XM_005264863.3:c.425T>C, XM_005264863.2:c.425T>C, XM_005264863.1:c.425T>C, XM_011533349.4:c.446T>C, XM_011533349.3:c.446T>C, XM_011533349.2:c.446T>C, XM_011533349.1:c.446T>C, XM_006712967.4:c.317T>C, XM_006712967.3:c.317T>C, XM_006712967.2:c.317T>C, XM_006712967.1:c.317T>C, XM_006712965.4:c.428T>C, XM_006712965.3:c.428T>C, XM_006712965.2:c.428T>C, XM_006712965.1:c.428T>C, XM_011533351.3:c.428T>C, XM_011533351.2:c.428T>C, XM_011533351.1:c.428T>C, XM_011533348.3:c.446T>C, XM_011533348.2:c.446T>C, XM_011533348.1:c.446T>C, XM_011533350.3:c.443T>C, XM_011533350.2:c.443T>C, XM_011533350.1:c.443T>C, NM_138805.3:c.428T>C, NM_138805.2:c.428T>C, XM_011533353.3:c.320T>C, XM_011533353.2:c.320T>C, XM_011533353.1:c.320T>C, XM_011533354.3:c.317T>C, XM_011533354.2:c.317T>C, XM_011533354.1:c.317T>C, XM_011533352.3:c.320T>C, XM_011533352.2:c.320T>C, XM_011533352.1:c.320T>C, XM_047447431.1:c.446T>C, XM_047447433.1:c.320T>C, XM_047447435.1:c.317T>C, XM_047447432.1:c.446T>C, XM_047447434.1:c.320T>C, XM_047447436.1:c.317T>C, XP_005264919.1:p.Leu143Pro, XP_005264921.1:p.Leu142Pro, XP_005264920.1:p.Leu142Pro, XP_011531651.1:p.Leu149Pro, XP_006713030.1:p.Leu106Pro, XP_006713028.1:p.Leu143Pro, XP_011531653.1:p.Leu143Pro, XP_011531650.1:p.Leu149Pro, XP_011531652.1:p.Leu148Pro, NP_620160.1:p.Leu143Pro, XP_011531655.1:p.Leu107Pro, XP_011531656.1:p.Leu106Pro, XP_011531654.1:p.Leu107Pro, XP_047303387.1:p.Leu149Pro, XP_047303389.1:p.Leu107Pro, XP_047303391.1:p.Leu106Pro, XP_047303388.1:p.Leu149Pro, XP_047303390.1:p.Leu107Pro, XP_047303392.1:p.Leu106Pro

                8.

                rs1467910204 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:58637185 (GRCh38)
                  3:58622912 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:58637184:C:T
                  Gene:
                  FAM3D (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000003.12:g.58637185C>T, NC_000003.11:g.58622912C>T, XM_005264862.5:c.414G>A, XM_005264862.4:c.414G>A, XM_005264862.3:c.414G>A, XM_005264862.2:c.414G>A, XM_005264862.1:c.414G>A, XM_005264864.5:c.411G>A, XM_005264864.4:c.411G>A, XM_005264864.3:c.411G>A, XM_005264864.2:c.411G>A, XM_005264864.1:c.411G>A, XM_005264863.5:c.411G>A, XM_005264863.4:c.411G>A, XM_005264863.3:c.411G>A, XM_005264863.2:c.411G>A, XM_005264863.1:c.411G>A, XM_011533349.4:c.432G>A, XM_011533349.3:c.432G>A, XM_011533349.2:c.432G>A, XM_011533349.1:c.432G>A, XM_006712967.4:c.303G>A, XM_006712967.3:c.303G>A, XM_006712967.2:c.303G>A, XM_006712967.1:c.303G>A, XM_006712965.4:c.414G>A, XM_006712965.3:c.414G>A, XM_006712965.2:c.414G>A, XM_006712965.1:c.414G>A, XM_011533351.3:c.414G>A, XM_011533351.2:c.414G>A, XM_011533351.1:c.414G>A, XM_011533348.3:c.432G>A, XM_011533348.2:c.432G>A, XM_011533348.1:c.432G>A, XM_011533350.3:c.429G>A, XM_011533350.2:c.429G>A, XM_011533350.1:c.429G>A, NM_138805.3:c.414G>A, NM_138805.2:c.414G>A, XM_011533353.3:c.306G>A, XM_011533353.2:c.306G>A, XM_011533353.1:c.306G>A, XM_011533354.3:c.303G>A, XM_011533354.2:c.303G>A, XM_011533354.1:c.303G>A, XM_011533352.3:c.306G>A, XM_011533352.2:c.306G>A, XM_011533352.1:c.306G>A, XM_047447431.1:c.432G>A, XM_047447433.1:c.306G>A, XM_047447435.1:c.303G>A, XM_047447432.1:c.432G>A, XM_047447434.1:c.306G>A, XM_047447436.1:c.303G>A

                  9.

                  rs1461887863 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:58636312 (GRCh38)
                    3:58622039 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:58636311:A:G
                    Gene:
                    FAM3D (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.58636312A>G, NC_000003.11:g.58622039A>G, XM_005264862.5:c.567T>C, XM_005264862.4:c.567T>C, XM_005264862.3:c.567T>C, XM_005264862.2:c.567T>C, XM_005264862.1:c.567T>C, XM_005264864.5:c.564T>C, XM_005264864.4:c.564T>C, XM_005264864.3:c.564T>C, XM_005264864.2:c.564T>C, XM_005264864.1:c.564T>C, XM_005264863.5:c.564T>C, XM_005264863.4:c.564T>C, XM_005264863.3:c.564T>C, XM_005264863.2:c.564T>C, XM_005264863.1:c.564T>C, XM_011533349.4:c.585T>C, XM_011533349.3:c.585T>C, XM_011533349.2:c.585T>C, XM_011533349.1:c.585T>C, XM_006712967.4:c.456T>C, XM_006712967.3:c.456T>C, XM_006712967.2:c.456T>C, XM_006712967.1:c.456T>C, XM_006712965.4:c.567T>C, XM_006712965.3:c.567T>C, XM_006712965.2:c.567T>C, XM_006712965.1:c.567T>C, XM_011533351.3:c.567T>C, XM_011533351.2:c.567T>C, XM_011533351.1:c.567T>C, XM_011533348.3:c.585T>C, XM_011533348.2:c.585T>C, XM_011533348.1:c.585T>C, XM_011533350.3:c.582T>C, XM_011533350.2:c.582T>C, XM_011533350.1:c.582T>C, NM_138805.3:c.567T>C, NM_138805.2:c.567T>C, XM_011533353.3:c.459T>C, XM_011533353.2:c.459T>C, XM_011533353.1:c.459T>C, XM_011533354.3:c.456T>C, XM_011533354.2:c.456T>C, XM_011533354.1:c.456T>C, XM_011533352.3:c.459T>C, XM_011533352.2:c.459T>C, XM_011533352.1:c.459T>C, XM_047447431.1:c.585T>C, XM_047447433.1:c.459T>C, XM_047447435.1:c.456T>C, XM_047447432.1:c.585T>C, XM_047447434.1:c.459T>C, XM_047447436.1:c.456T>C

                    10.

                    rs1460929769 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:58634351 (GRCh38)
                      3:58620078 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:58634350:T:C
                      Gene:
                      FAM3D (Varview), FAM3D-AS1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000003.12:g.58634351T>C, NC_000003.11:g.58620078T>C, XM_005264862.5:c.603A>G, XM_005264862.4:c.603A>G, XM_005264862.3:c.603A>G, XM_005264862.2:c.603A>G, XM_005264862.1:c.603A>G, XM_005264864.5:c.600A>G, XM_005264864.4:c.600A>G, XM_005264864.3:c.600A>G, XM_005264864.2:c.600A>G, XM_005264864.1:c.600A>G, XM_005264863.5:c.600A>G, XM_005264863.4:c.600A>G, XM_005264863.3:c.600A>G, XM_005264863.2:c.600A>G, XM_005264863.1:c.600A>G, XM_011533349.4:c.621A>G, XM_011533349.3:c.621A>G, XM_011533349.2:c.621A>G, XM_011533349.1:c.621A>G, XM_006712967.4:c.492A>G, XM_006712967.3:c.492A>G, XM_006712967.2:c.492A>G, XM_006712967.1:c.492A>G, XM_006712965.4:c.603A>G, XM_006712965.3:c.603A>G, XM_006712965.2:c.603A>G, XM_006712965.1:c.603A>G, XM_011533351.3:c.603A>G, XM_011533351.2:c.603A>G, XM_011533351.1:c.603A>G, XM_011533348.3:c.621A>G, XM_011533348.2:c.621A>G, XM_011533348.1:c.621A>G, XM_011533350.3:c.618A>G, XM_011533350.2:c.618A>G, XM_011533350.1:c.618A>G, NM_138805.3:c.603A>G, NM_138805.2:c.603A>G, XM_011533353.3:c.495A>G, XM_011533353.2:c.495A>G, XM_011533353.1:c.495A>G, XM_011533354.3:c.492A>G, XM_011533354.2:c.492A>G, XM_011533354.1:c.492A>G, XM_011533352.3:c.495A>G, XM_011533352.2:c.495A>G, XM_011533352.1:c.495A>G, XM_047447431.1:c.621A>G, XM_047447433.1:c.495A>G, XM_047447435.1:c.492A>G, XM_047447432.1:c.621A>G, XM_047447434.1:c.495A>G, XM_047447436.1:c.492A>G, NR_134853.1:n.732T>C

                      11.

                      rs1457849629 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:58640159 (GRCh38)
                        3:58625886 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:58640158:A:G
                        Gene:
                        FAM3D (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000212/4 (TOMMO)
                        HGVS:
                        NC_000003.12:g.58640159A>G, NC_000003.11:g.58625886A>G, XM_005264862.5:c.341T>C, XM_005264862.4:c.341T>C, XM_005264862.3:c.341T>C, XM_005264862.2:c.341T>C, XM_005264862.1:c.341T>C, XM_005264864.5:c.338T>C, XM_005264864.4:c.338T>C, XM_005264864.3:c.338T>C, XM_005264864.2:c.338T>C, XM_005264864.1:c.338T>C, XM_005264863.5:c.338T>C, XM_005264863.4:c.338T>C, XM_005264863.3:c.338T>C, XM_005264863.2:c.338T>C, XM_005264863.1:c.338T>C, XM_011533349.4:c.359T>C, XM_011533349.3:c.359T>C, XM_011533349.2:c.359T>C, XM_011533349.1:c.359T>C, XM_006712967.4:c.230T>C, XM_006712967.3:c.230T>C, XM_006712967.2:c.230T>C, XM_006712967.1:c.230T>C, XM_006712965.4:c.341T>C, XM_006712965.3:c.341T>C, XM_006712965.2:c.341T>C, XM_006712965.1:c.341T>C, XM_011533351.3:c.341T>C, XM_011533351.2:c.341T>C, XM_011533351.1:c.341T>C, XM_011533348.3:c.359T>C, XM_011533348.2:c.359T>C, XM_011533348.1:c.359T>C, XM_011533350.3:c.356T>C, XM_011533350.2:c.356T>C, XM_011533350.1:c.356T>C, NM_138805.3:c.341T>C, NM_138805.2:c.341T>C, XM_011533353.3:c.233T>C, XM_011533353.2:c.233T>C, XM_011533353.1:c.233T>C, XM_011533354.3:c.230T>C, XM_011533354.2:c.230T>C, XM_011533354.1:c.230T>C, XM_011533352.3:c.233T>C, XM_011533352.2:c.233T>C, XM_011533352.1:c.233T>C, XM_047447431.1:c.359T>C, XM_047447433.1:c.233T>C, XM_047447435.1:c.230T>C, XM_047447432.1:c.359T>C, XM_047447434.1:c.233T>C, XM_047447436.1:c.230T>C, XP_005264919.1:p.Leu114Pro, XP_005264921.1:p.Leu113Pro, XP_005264920.1:p.Leu113Pro, XP_011531651.1:p.Leu120Pro, XP_006713030.1:p.Leu77Pro, XP_006713028.1:p.Leu114Pro, XP_011531653.1:p.Leu114Pro, XP_011531650.1:p.Leu120Pro, XP_011531652.1:p.Leu119Pro, NP_620160.1:p.Leu114Pro, XP_011531655.1:p.Leu78Pro, XP_011531656.1:p.Leu77Pro, XP_011531654.1:p.Leu78Pro, XP_047303387.1:p.Leu120Pro, XP_047303389.1:p.Leu78Pro, XP_047303391.1:p.Leu77Pro, XP_047303388.1:p.Leu120Pro, XP_047303390.1:p.Leu78Pro, XP_047303392.1:p.Leu77Pro

                        12.

                        rs1454771712 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          3:58640174 (GRCh38)
                          3:58625901 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:58640173:G:C
                          Gene:
                          FAM3D (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000003.12:g.58640174G>C, NC_000003.11:g.58625901G>C, XM_005264862.5:c.326C>G, XM_005264862.4:c.326C>G, XM_005264862.3:c.326C>G, XM_005264862.2:c.326C>G, XM_005264862.1:c.326C>G, XM_005264864.5:c.323C>G, XM_005264864.4:c.323C>G, XM_005264864.3:c.323C>G, XM_005264864.2:c.323C>G, XM_005264864.1:c.323C>G, XM_005264863.5:c.323C>G, XM_005264863.4:c.323C>G, XM_005264863.3:c.323C>G, XM_005264863.2:c.323C>G, XM_005264863.1:c.323C>G, XM_011533349.4:c.344C>G, XM_011533349.3:c.344C>G, XM_011533349.2:c.344C>G, XM_011533349.1:c.344C>G, XM_006712967.4:c.215C>G, XM_006712967.3:c.215C>G, XM_006712967.2:c.215C>G, XM_006712967.1:c.215C>G, XM_006712965.4:c.326C>G, XM_006712965.3:c.326C>G, XM_006712965.2:c.326C>G, XM_006712965.1:c.326C>G, XM_011533351.3:c.326C>G, XM_011533351.2:c.326C>G, XM_011533351.1:c.326C>G, XM_011533348.3:c.344C>G, XM_011533348.2:c.344C>G, XM_011533348.1:c.344C>G, XM_011533350.3:c.341C>G, XM_011533350.2:c.341C>G, XM_011533350.1:c.341C>G, NM_138805.3:c.326C>G, NM_138805.2:c.326C>G, XM_011533353.3:c.218C>G, XM_011533353.2:c.218C>G, XM_011533353.1:c.218C>G, XM_011533354.3:c.215C>G, XM_011533354.2:c.215C>G, XM_011533354.1:c.215C>G, XM_011533352.3:c.218C>G, XM_011533352.2:c.218C>G, XM_011533352.1:c.218C>G, XM_047447431.1:c.344C>G, XM_047447433.1:c.218C>G, XM_047447435.1:c.215C>G, XM_047447432.1:c.344C>G, XM_047447434.1:c.218C>G, XM_047447436.1:c.215C>G, XP_005264919.1:p.Thr109Ser, XP_005264921.1:p.Thr108Ser, XP_005264920.1:p.Thr108Ser, XP_011531651.1:p.Thr115Ser, XP_006713030.1:p.Thr72Ser, XP_006713028.1:p.Thr109Ser, XP_011531653.1:p.Thr109Ser, XP_011531650.1:p.Thr115Ser, XP_011531652.1:p.Thr114Ser, NP_620160.1:p.Thr109Ser, XP_011531655.1:p.Thr73Ser, XP_011531656.1:p.Thr72Ser, XP_011531654.1:p.Thr73Ser, XP_047303387.1:p.Thr115Ser, XP_047303389.1:p.Thr73Ser, XP_047303391.1:p.Thr72Ser, XP_047303388.1:p.Thr115Ser, XP_047303390.1:p.Thr73Ser, XP_047303392.1:p.Thr72Ser

                          13.

                          rs1454490135 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:58643681 (GRCh38)
                            3:58629408 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:58643680:T:C
                            Gene:
                            FAM3D (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.58643681T>C, NC_000003.11:g.58629408T>C, XM_005264862.5:c.303A>G, XM_005264862.4:c.303A>G, XM_005264862.3:c.303A>G, XM_005264862.2:c.303A>G, XM_005264862.1:c.303A>G, XM_005264864.5:c.300A>G, XM_005264864.4:c.300A>G, XM_005264864.3:c.300A>G, XM_005264864.2:c.300A>G, XM_005264864.1:c.300A>G, XM_005264863.5:c.300A>G, XM_005264863.4:c.300A>G, XM_005264863.3:c.300A>G, XM_005264863.2:c.300A>G, XM_005264863.1:c.300A>G, XM_011533349.4:c.321A>G, XM_011533349.3:c.321A>G, XM_011533349.2:c.321A>G, XM_011533349.1:c.321A>G, XM_006712967.4:c.192A>G, XM_006712967.3:c.192A>G, XM_006712967.2:c.192A>G, XM_006712967.1:c.192A>G, XM_006712965.4:c.303A>G, XM_006712965.3:c.303A>G, XM_006712965.2:c.303A>G, XM_006712965.1:c.303A>G, XM_011533351.3:c.303A>G, XM_011533351.2:c.303A>G, XM_011533351.1:c.303A>G, XM_011533348.3:c.321A>G, XM_011533348.2:c.321A>G, XM_011533348.1:c.321A>G, XM_011533350.3:c.318A>G, XM_011533350.2:c.318A>G, XM_011533350.1:c.318A>G, NM_138805.3:c.303A>G, NM_138805.2:c.303A>G, XM_011533353.3:c.195A>G, XM_011533353.2:c.195A>G, XM_011533353.1:c.195A>G, XM_011533354.3:c.192A>G, XM_011533354.2:c.192A>G, XM_011533354.1:c.192A>G, XM_011533352.3:c.195A>G, XM_011533352.2:c.195A>G, XM_011533352.1:c.195A>G, XM_047447431.1:c.321A>G, XM_047447433.1:c.195A>G, XM_047447435.1:c.192A>G, XM_047447432.1:c.321A>G, XM_047447434.1:c.195A>G, XM_047447436.1:c.192A>G

                            14.

                            rs1447883140 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:58645530 (GRCh38)
                              3:58631257 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:58645529:G:A
                              Gene:
                              FAM3D (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000003.12:g.58645530G>A, NC_000003.11:g.58631257G>A, XM_005264862.5:c.242C>T, XM_005264862.4:c.242C>T, XM_005264862.3:c.242C>T, XM_005264862.2:c.242C>T, XM_005264862.1:c.242C>T, XM_005264864.5:c.239C>T, XM_005264864.4:c.239C>T, XM_005264864.3:c.239C>T, XM_005264864.2:c.239C>T, XM_005264864.1:c.239C>T, XM_005264863.5:c.239C>T, XM_005264863.4:c.239C>T, XM_005264863.3:c.239C>T, XM_005264863.2:c.239C>T, XM_005264863.1:c.239C>T, XM_011533349.4:c.260C>T, XM_011533349.3:c.260C>T, XM_011533349.2:c.260C>T, XM_011533349.1:c.260C>T, XM_006712967.4:c.131C>T, XM_006712967.3:c.131C>T, XM_006712967.2:c.131C>T, XM_006712967.1:c.131C>T, XM_006712965.4:c.242C>T, XM_006712965.3:c.242C>T, XM_006712965.2:c.242C>T, XM_006712965.1:c.242C>T, XM_011533351.3:c.242C>T, XM_011533351.2:c.242C>T, XM_011533351.1:c.242C>T, XM_011533348.3:c.260C>T, XM_011533348.2:c.260C>T, XM_011533348.1:c.260C>T, XM_011533350.3:c.257C>T, XM_011533350.2:c.257C>T, XM_011533350.1:c.257C>T, NM_138805.3:c.242C>T, NM_138805.2:c.242C>T, XM_011533353.3:c.134C>T, XM_011533353.2:c.134C>T, XM_011533353.1:c.134C>T, XM_011533354.3:c.131C>T, XM_011533354.2:c.131C>T, XM_011533354.1:c.131C>T, XM_011533352.3:c.134C>T, XM_011533352.2:c.134C>T, XM_011533352.1:c.134C>T, XM_047447431.1:c.260C>T, XM_047447433.1:c.134C>T, XM_047447435.1:c.131C>T, XM_047447432.1:c.260C>T, XM_047447434.1:c.134C>T, XM_047447436.1:c.131C>T, XP_005264919.1:p.Thr81Ile, XP_005264921.1:p.Thr80Ile, XP_005264920.1:p.Thr80Ile, XP_011531651.1:p.Thr87Ile, XP_006713030.1:p.Thr44Ile, XP_006713028.1:p.Thr81Ile, XP_011531653.1:p.Thr81Ile, XP_011531650.1:p.Thr87Ile, XP_011531652.1:p.Thr86Ile, NP_620160.1:p.Thr81Ile, XP_011531655.1:p.Thr45Ile, XP_011531656.1:p.Thr44Ile, XP_011531654.1:p.Thr45Ile, XP_047303387.1:p.Thr87Ile, XP_047303389.1:p.Thr45Ile, XP_047303391.1:p.Thr44Ile, XP_047303388.1:p.Thr87Ile, XP_047303390.1:p.Thr45Ile, XP_047303392.1:p.Thr44Ile

                              15.

                              rs1446975867 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:58655552 (GRCh38)
                                3:58641279 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:58655551:T:C
                                Gene:
                                FAM3D (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000003.12:g.58655552T>C, NC_000003.11:g.58641279T>C, XM_005264862.5:c.12A>G, XM_005264862.4:c.12A>G, XM_005264862.3:c.12A>G, XM_005264862.2:c.12A>G, XM_005264862.1:c.12A>G, XM_005264864.5:c.12A>G, XM_005264864.4:c.12A>G, XM_005264864.3:c.12A>G, XM_005264864.2:c.12A>G, XM_005264864.1:c.12A>G, XM_005264863.5:c.12A>G, XM_005264863.4:c.12A>G, XM_005264863.3:c.12A>G, XM_005264863.2:c.12A>G, XM_005264863.1:c.12A>G, XM_011533349.4:c.12A>G, XM_011533349.3:c.12A>G, XM_011533349.2:c.12A>G, XM_011533349.1:c.12A>G, XM_006712967.4:c.12A>G, XM_006712967.3:c.12A>G, XM_006712967.2:c.12A>G, XM_006712967.1:c.12A>G, XM_006712965.4:c.12A>G, XM_006712965.3:c.12A>G, XM_006712965.2:c.12A>G, XM_006712965.1:c.12A>G, XM_011533351.3:c.12A>G, XM_011533351.2:c.12A>G, XM_011533351.1:c.12A>G, XM_011533348.3:c.12A>G, XM_011533348.2:c.12A>G, XM_011533348.1:c.12A>G, XM_011533350.3:c.12A>G, XM_011533350.2:c.12A>G, XM_011533350.1:c.12A>G, NM_138805.3:c.12A>G, NM_138805.2:c.12A>G, XM_011533353.3:c.12A>G, XM_011533353.2:c.12A>G, XM_011533353.1:c.12A>G, XM_011533354.3:c.12A>G, XM_011533354.2:c.12A>G, XM_011533354.1:c.12A>G, XM_011533352.3:c.12A>G, XM_011533352.2:c.12A>G, XM_011533352.1:c.12A>G, XM_047447431.1:c.12A>G, XM_047447433.1:c.12A>G, XM_047447435.1:c.12A>G, XM_047447432.1:c.12A>G, XM_047447434.1:c.12A>G, XM_047447436.1:c.12A>G

                                16.

                                rs1443449054 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  3:58643709 (GRCh38)
                                  3:58629436 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:58643708:G:A,NC_000003.12:58643708:G:C
                                  Gene:
                                  FAM3D (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.00006/2 (ALFA)
                                  HGVS:
                                  NC_000003.12:g.58643709G>A, NC_000003.12:g.58643709G>C, NC_000003.11:g.58629436G>A, NC_000003.11:g.58629436G>C, XM_005264862.5:c.275C>T, XM_005264862.5:c.275C>G, XM_005264862.4:c.275C>T, XM_005264862.4:c.275C>G, XM_005264862.3:c.275C>T, XM_005264862.3:c.275C>G, XM_005264862.2:c.275C>T, XM_005264862.2:c.275C>G, XM_005264862.1:c.275C>T, XM_005264862.1:c.275C>G, XM_005264864.5:c.272C>T, XM_005264864.5:c.272C>G, XM_005264864.4:c.272C>T, XM_005264864.4:c.272C>G, XM_005264864.3:c.272C>T, XM_005264864.3:c.272C>G, XM_005264864.2:c.272C>T, XM_005264864.2:c.272C>G, XM_005264864.1:c.272C>T, XM_005264864.1:c.272C>G, XM_005264863.5:c.272C>T, XM_005264863.5:c.272C>G, XM_005264863.4:c.272C>T, XM_005264863.4:c.272C>G, XM_005264863.3:c.272C>T, XM_005264863.3:c.272C>G, XM_005264863.2:c.272C>T, XM_005264863.2:c.272C>G, XM_005264863.1:c.272C>T, XM_005264863.1:c.272C>G, XM_011533349.4:c.293C>T, XM_011533349.4:c.293C>G, XM_011533349.3:c.293C>T, XM_011533349.3:c.293C>G, XM_011533349.2:c.293C>T, XM_011533349.2:c.293C>G, XM_011533349.1:c.293C>T, XM_011533349.1:c.293C>G, XM_006712967.4:c.164C>T, XM_006712967.4:c.164C>G, XM_006712967.3:c.164C>T, XM_006712967.3:c.164C>G, XM_006712967.2:c.164C>T, XM_006712967.2:c.164C>G, XM_006712967.1:c.164C>T, XM_006712967.1:c.164C>G, XM_006712965.4:c.275C>T, XM_006712965.4:c.275C>G, XM_006712965.3:c.275C>T, XM_006712965.3:c.275C>G, XM_006712965.2:c.275C>T, XM_006712965.2:c.275C>G, XM_006712965.1:c.275C>T, XM_006712965.1:c.275C>G, XM_011533351.3:c.275C>T, XM_011533351.3:c.275C>G, XM_011533351.2:c.275C>T, XM_011533351.2:c.275C>G, XM_011533351.1:c.275C>T, XM_011533351.1:c.275C>G, XM_011533348.3:c.293C>T, XM_011533348.3:c.293C>G, XM_011533348.2:c.293C>T, XM_011533348.2:c.293C>G, XM_011533348.1:c.293C>T, XM_011533348.1:c.293C>G, XM_011533350.3:c.290C>T, XM_011533350.3:c.290C>G, XM_011533350.2:c.290C>T, XM_011533350.2:c.290C>G, XM_011533350.1:c.290C>T, XM_011533350.1:c.290C>G, NM_138805.3:c.275C>T, NM_138805.3:c.275C>G, NM_138805.2:c.275C>T, NM_138805.2:c.275C>G, XM_011533353.3:c.167C>T, XM_011533353.3:c.167C>G, XM_011533353.2:c.167C>T, XM_011533353.2:c.167C>G, XM_011533353.1:c.167C>T, XM_011533353.1:c.167C>G, XM_011533354.3:c.164C>T, XM_011533354.3:c.164C>G, XM_011533354.2:c.164C>T, XM_011533354.2:c.164C>G, XM_011533354.1:c.164C>T, XM_011533354.1:c.164C>G, XM_011533352.3:c.167C>T, XM_011533352.3:c.167C>G, XM_011533352.2:c.167C>T, XM_011533352.2:c.167C>G, XM_011533352.1:c.167C>T, XM_011533352.1:c.167C>G, XM_047447431.1:c.293C>T, XM_047447431.1:c.293C>G, XM_047447433.1:c.167C>T, XM_047447433.1:c.167C>G, XM_047447435.1:c.164C>T, XM_047447435.1:c.164C>G, XM_047447432.1:c.293C>T, XM_047447432.1:c.293C>G, XM_047447434.1:c.167C>T, XM_047447434.1:c.167C>G, XM_047447436.1:c.164C>T, XM_047447436.1:c.164C>G, XP_005264919.1:p.Pro92Leu, XP_005264919.1:p.Pro92Arg, XP_005264921.1:p.Pro91Leu, XP_005264921.1:p.Pro91Arg, XP_005264920.1:p.Pro91Leu, XP_005264920.1:p.Pro91Arg, XP_011531651.1:p.Pro98Leu, XP_011531651.1:p.Pro98Arg, XP_006713030.1:p.Pro55Leu, XP_006713030.1:p.Pro55Arg, XP_006713028.1:p.Pro92Leu, XP_006713028.1:p.Pro92Arg, XP_011531653.1:p.Pro92Leu, XP_011531653.1:p.Pro92Arg, XP_011531650.1:p.Pro98Leu, XP_011531650.1:p.Pro98Arg, XP_011531652.1:p.Pro97Leu, XP_011531652.1:p.Pro97Arg, NP_620160.1:p.Pro92Leu, NP_620160.1:p.Pro92Arg, XP_011531655.1:p.Pro56Leu, XP_011531655.1:p.Pro56Arg, XP_011531656.1:p.Pro55Leu, XP_011531656.1:p.Pro55Arg, XP_011531654.1:p.Pro56Leu, XP_011531654.1:p.Pro56Arg, XP_047303387.1:p.Pro98Leu, XP_047303387.1:p.Pro98Arg, XP_047303389.1:p.Pro56Leu, XP_047303389.1:p.Pro56Arg, XP_047303391.1:p.Pro55Leu, XP_047303391.1:p.Pro55Arg, XP_047303388.1:p.Pro98Leu, XP_047303388.1:p.Pro98Arg, XP_047303390.1:p.Pro56Leu, XP_047303390.1:p.Pro56Arg, XP_047303392.1:p.Pro55Leu, XP_047303392.1:p.Pro55Arg

                                  17.

                                  rs1438994563 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:58640145 (GRCh38)
                                    3:58625872 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:58640144:A:G
                                    Gene:
                                    FAM3D (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.58640145A>G, NC_000003.11:g.58625872A>G, XM_005264862.5:c.355T>C, XM_005264862.4:c.355T>C, XM_005264862.3:c.355T>C, XM_005264862.2:c.355T>C, XM_005264862.1:c.355T>C, XM_005264864.5:c.352T>C, XM_005264864.4:c.352T>C, XM_005264864.3:c.352T>C, XM_005264864.2:c.352T>C, XM_005264864.1:c.352T>C, XM_005264863.5:c.352T>C, XM_005264863.4:c.352T>C, XM_005264863.3:c.352T>C, XM_005264863.2:c.352T>C, XM_005264863.1:c.352T>C, XM_011533349.4:c.373T>C, XM_011533349.3:c.373T>C, XM_011533349.2:c.373T>C, XM_011533349.1:c.373T>C, XM_006712967.4:c.244T>C, XM_006712967.3:c.244T>C, XM_006712967.2:c.244T>C, XM_006712967.1:c.244T>C, XM_006712965.4:c.355T>C, XM_006712965.3:c.355T>C, XM_006712965.2:c.355T>C, XM_006712965.1:c.355T>C, XM_011533351.3:c.355T>C, XM_011533351.2:c.355T>C, XM_011533351.1:c.355T>C, XM_011533348.3:c.373T>C, XM_011533348.2:c.373T>C, XM_011533348.1:c.373T>C, XM_011533350.3:c.370T>C, XM_011533350.2:c.370T>C, XM_011533350.1:c.370T>C, NM_138805.3:c.355T>C, NM_138805.2:c.355T>C, XM_011533353.3:c.247T>C, XM_011533353.2:c.247T>C, XM_011533353.1:c.247T>C, XM_011533354.3:c.244T>C, XM_011533354.2:c.244T>C, XM_011533354.1:c.244T>C, XM_011533352.3:c.247T>C, XM_011533352.2:c.247T>C, XM_011533352.1:c.247T>C, XM_047447431.1:c.373T>C, XM_047447433.1:c.247T>C, XM_047447435.1:c.244T>C, XM_047447432.1:c.373T>C, XM_047447434.1:c.247T>C, XM_047447436.1:c.244T>C, XP_005264919.1:p.Phe119Leu, XP_005264921.1:p.Phe118Leu, XP_005264920.1:p.Phe118Leu, XP_011531651.1:p.Phe125Leu, XP_006713030.1:p.Phe82Leu, XP_006713028.1:p.Phe119Leu, XP_011531653.1:p.Phe119Leu, XP_011531650.1:p.Phe125Leu, XP_011531652.1:p.Phe124Leu, NP_620160.1:p.Phe119Leu, XP_011531655.1:p.Phe83Leu, XP_011531656.1:p.Phe82Leu, XP_011531654.1:p.Phe83Leu, XP_047303387.1:p.Phe125Leu, XP_047303389.1:p.Phe83Leu, XP_047303391.1:p.Phe82Leu, XP_047303388.1:p.Phe125Leu, XP_047303390.1:p.Phe83Leu, XP_047303392.1:p.Phe82Leu

                                    18.

                                    rs1435159564 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      3:58653762 (GRCh38)
                                      3:58639489 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:58653761:G:T
                                      Gene:
                                      FAM3D (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,intron_variant
                                      HGVS:
                                      NC_000003.12:g.58653762G>T, NC_000003.11:g.58639489G>T, XM_005264862.5:c.33C>A, XM_005264862.4:c.33C>A, XM_005264862.3:c.33C>A, XM_005264862.2:c.33C>A, XM_005264862.1:c.33C>A, XM_005264864.5:c.33C>A, XM_005264864.4:c.33C>A, XM_005264864.3:c.33C>A, XM_005264864.2:c.33C>A, XM_005264864.1:c.33C>A, XM_005264863.5:c.33C>A, XM_005264863.4:c.33C>A, XM_005264863.3:c.33C>A, XM_005264863.2:c.33C>A, XM_005264863.1:c.33C>A, XM_011533349.4:c.51C>A, XM_011533349.3:c.51C>A, XM_011533349.2:c.51C>A, XM_011533349.1:c.51C>A, XM_006712965.4:c.33C>A, XM_006712965.3:c.33C>A, XM_006712965.2:c.33C>A, XM_006712965.1:c.33C>A, XM_011533351.3:c.33C>A, XM_011533351.2:c.33C>A, XM_011533351.1:c.33C>A, XM_011533348.3:c.51C>A, XM_011533348.2:c.51C>A, XM_011533348.1:c.51C>A, XM_011533350.3:c.51C>A, XM_011533350.2:c.51C>A, XM_011533350.1:c.51C>A, NM_138805.3:c.33C>A, NM_138805.2:c.33C>A, XM_047447431.1:c.51C>A, XM_047447432.1:c.51C>A

                                      19.

                                      rs1427848680 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:58637181 (GRCh38)
                                        3:58622908 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:58637180:C:T
                                        Gene:
                                        FAM3D (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000125/5 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000036/5 (GnomAD)
                                        T=0.000893/4 (Estonian)
                                        HGVS:
                                        NC_000003.12:g.58637181C>T, NC_000003.11:g.58622908C>T, XM_005264862.5:c.418G>A, XM_005264862.4:c.418G>A, XM_005264862.3:c.418G>A, XM_005264862.2:c.418G>A, XM_005264862.1:c.418G>A, XM_005264864.5:c.415G>A, XM_005264864.4:c.415G>A, XM_005264864.3:c.415G>A, XM_005264864.2:c.415G>A, XM_005264864.1:c.415G>A, XM_005264863.5:c.415G>A, XM_005264863.4:c.415G>A, XM_005264863.3:c.415G>A, XM_005264863.2:c.415G>A, XM_005264863.1:c.415G>A, XM_011533349.4:c.436G>A, XM_011533349.3:c.436G>A, XM_011533349.2:c.436G>A, XM_011533349.1:c.436G>A, XM_006712967.4:c.307G>A, XM_006712967.3:c.307G>A, XM_006712967.2:c.307G>A, XM_006712967.1:c.307G>A, XM_006712965.4:c.418G>A, XM_006712965.3:c.418G>A, XM_006712965.2:c.418G>A, XM_006712965.1:c.418G>A, XM_011533351.3:c.418G>A, XM_011533351.2:c.418G>A, XM_011533351.1:c.418G>A, XM_011533348.3:c.436G>A, XM_011533348.2:c.436G>A, XM_011533348.1:c.436G>A, XM_011533350.3:c.433G>A, XM_011533350.2:c.433G>A, XM_011533350.1:c.433G>A, NM_138805.3:c.418G>A, NM_138805.2:c.418G>A, XM_011533353.3:c.310G>A, XM_011533353.2:c.310G>A, XM_011533353.1:c.310G>A, XM_011533354.3:c.307G>A, XM_011533354.2:c.307G>A, XM_011533354.1:c.307G>A, XM_011533352.3:c.310G>A, XM_011533352.2:c.310G>A, XM_011533352.1:c.310G>A, XM_047447431.1:c.436G>A, XM_047447433.1:c.310G>A, XM_047447435.1:c.307G>A, XM_047447432.1:c.436G>A, XM_047447434.1:c.310G>A, XM_047447436.1:c.307G>A, XP_005264919.1:p.Ala140Thr, XP_005264921.1:p.Ala139Thr, XP_005264920.1:p.Ala139Thr, XP_011531651.1:p.Ala146Thr, XP_006713030.1:p.Ala103Thr, XP_006713028.1:p.Ala140Thr, XP_011531653.1:p.Ala140Thr, XP_011531650.1:p.Ala146Thr, XP_011531652.1:p.Ala145Thr, NP_620160.1:p.Ala140Thr, XP_011531655.1:p.Ala104Thr, XP_011531656.1:p.Ala103Thr, XP_011531654.1:p.Ala104Thr, XP_047303387.1:p.Ala146Thr, XP_047303389.1:p.Ala104Thr, XP_047303391.1:p.Ala103Thr, XP_047303388.1:p.Ala146Thr, XP_047303390.1:p.Ala104Thr, XP_047303392.1:p.Ala103Thr

                                        20.

                                        rs1417723081 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:58653791 (GRCh38)
                                          3:58639518 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:58653790:A:G
                                          Gene:
                                          FAM3D (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000111/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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