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Items: 1 to 20 of 671

1.

rs1488673345 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    14:69053927 (GRCh38)
    14:69520644 (GRCh37)
    Canonical SPDI:
    NC_000014.9:69053926:T:C
    Gene:
    DCAF5 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000028/1 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000014.9:g.69053927T>C, NC_000014.8:g.69520644T>C, XM_006720299.4:c.2618A>G, XM_006720299.3:c.2618A>G, XM_006720299.2:c.2618A>G, XM_006720299.1:c.2618A>G, XM_011537280.4:c.2213A>G, XM_011537280.3:c.2213A>G, XM_011537280.2:c.2213A>G, XM_011537280.1:c.2213A>G, XM_006720297.3:c.2864A>G, XM_006720297.2:c.2864A>G, XM_006720297.1:c.2864A>G, XM_006720298.3:c.2861A>G, XM_006720298.2:c.2861A>G, XM_006720298.1:c.2861A>G, NM_003861.3:c.2759A>G, NM_003861.2:c.2759A>G, XM_011537279.3:c.2618A>G, XM_011537279.2:c.2618A>G, XM_011537279.1:c.2618A>G, XM_011537278.2:c.2618A>G, XM_011537278.1:c.2618A>G, XM_017021733.2:c.2618A>G, XM_017021733.1:c.2618A>G, XM_017021737.2:c.2108A>G, XM_017021737.1:c.2108A>G, NM_001284206.1:c.2756A>G, XM_047431847.1:c.2618A>G, XM_047431846.1:c.2618A>G, NM_001284207.1:c.2513A>G, XP_006720362.1:p.Lys873Arg, XP_011535582.1:p.Lys738Arg, XP_006720360.1:p.Lys955Arg, XP_006720361.1:p.Lys954Arg, NP_003852.1:p.Lys920Arg, XP_011535581.1:p.Lys873Arg, XP_011535580.1:p.Lys873Arg, XP_016877222.1:p.Lys873Arg, XP_016877226.1:p.Lys703Arg, NP_001271135.1:p.Lys919Arg, XP_047287803.1:p.Lys873Arg, XP_047287802.1:p.Lys873Arg, NP_001271136.1:p.Lys838Arg

    2.

    rs1487816633 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      14:69055087 (GRCh38)
      14:69521804 (GRCh37)
      Canonical SPDI:
      NC_000014.9:69055086:A:G
      Gene:
      DCAF5 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1487807431 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:69054869 (GRCh38)
        14:69521586 (GRCh37)
        Canonical SPDI:
        NC_000014.9:69054868:G:A
        Gene:
        DCAF5 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        NC_000014.9:g.69054869G>A, NC_000014.8:g.69521586G>A, XM_006720299.4:c.1676C>T, XM_006720299.3:c.1676C>T, XM_006720299.2:c.1676C>T, XM_006720299.1:c.1676C>T, XM_011537280.4:c.1271C>T, XM_011537280.3:c.1271C>T, XM_011537280.2:c.1271C>T, XM_011537280.1:c.1271C>T, XM_006720297.3:c.1922C>T, XM_006720297.2:c.1922C>T, XM_006720297.1:c.1922C>T, XM_006720298.3:c.1919C>T, XM_006720298.2:c.1919C>T, XM_006720298.1:c.1919C>T, NM_003861.3:c.1817C>T, NM_003861.2:c.1817C>T, XM_011537279.3:c.1676C>T, XM_011537279.2:c.1676C>T, XM_011537279.1:c.1676C>T, XM_011537278.2:c.1676C>T, XM_011537278.1:c.1676C>T, XM_017021733.2:c.1676C>T, XM_017021733.1:c.1676C>T, XM_017021737.2:c.1166C>T, XM_017021737.1:c.1166C>T, NM_001284206.1:c.1814C>T, XM_047431847.1:c.1676C>T, XM_047431846.1:c.1676C>T, NM_001284207.1:c.1571C>T, XP_006720362.1:p.Thr559Ile, XP_011535582.1:p.Thr424Ile, XP_006720360.1:p.Thr641Ile, XP_006720361.1:p.Thr640Ile, NP_003852.1:p.Thr606Ile, XP_011535581.1:p.Thr559Ile, XP_011535580.1:p.Thr559Ile, XP_016877222.1:p.Thr559Ile, XP_016877226.1:p.Thr389Ile, NP_001271135.1:p.Thr605Ile, XP_047287803.1:p.Thr559Ile, XP_047287802.1:p.Thr559Ile, NP_001271136.1:p.Thr524Ile

        4.

        rs1486198582 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:69054921 (GRCh38)
          14:69521638 (GRCh37)
          Canonical SPDI:
          NC_000014.9:69054920:G:A
          Gene:
          DCAF5 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          A=0.000035/1 (TOMMO)
          HGVS:
          NC_000014.9:g.69054921G>A, NC_000014.8:g.69521638G>A, XM_006720299.4:c.1624C>T, XM_006720299.3:c.1624C>T, XM_006720299.2:c.1624C>T, XM_006720299.1:c.1624C>T, XM_011537280.4:c.1219C>T, XM_011537280.3:c.1219C>T, XM_011537280.2:c.1219C>T, XM_011537280.1:c.1219C>T, XM_006720297.3:c.1870C>T, XM_006720297.2:c.1870C>T, XM_006720297.1:c.1870C>T, XM_006720298.3:c.1867C>T, XM_006720298.2:c.1867C>T, XM_006720298.1:c.1867C>T, NM_003861.3:c.1765C>T, NM_003861.2:c.1765C>T, XM_011537279.3:c.1624C>T, XM_011537279.2:c.1624C>T, XM_011537279.1:c.1624C>T, XM_011537278.2:c.1624C>T, XM_011537278.1:c.1624C>T, XM_017021733.2:c.1624C>T, XM_017021733.1:c.1624C>T, XM_017021737.2:c.1114C>T, XM_017021737.1:c.1114C>T, NM_001284206.1:c.1762C>T, XM_047431847.1:c.1624C>T, XM_047431846.1:c.1624C>T, NM_001284207.1:c.1519C>T, XP_006720362.1:p.Arg542Cys, XP_011535582.1:p.Arg407Cys, XP_006720360.1:p.Arg624Cys, XP_006720361.1:p.Arg623Cys, NP_003852.1:p.Arg589Cys, XP_011535581.1:p.Arg542Cys, XP_011535580.1:p.Arg542Cys, XP_016877222.1:p.Arg542Cys, XP_016877226.1:p.Arg372Cys, NP_001271135.1:p.Arg588Cys, XP_047287803.1:p.Arg542Cys, XP_047287802.1:p.Arg542Cys, NP_001271136.1:p.Arg507Cys

          5.

          rs1485544326 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:69062455 (GRCh38)
            14:69529172 (GRCh37)
            Canonical SPDI:
            NC_000014.9:69062454:T:C
            Gene:
            DCAF5 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.69062455T>C, NC_000014.8:g.69529172T>C, XM_006720299.4:c.862A>G, XM_006720299.3:c.862A>G, XM_006720299.2:c.862A>G, XM_006720299.1:c.862A>G, XM_011537280.4:c.457A>G, XM_011537280.3:c.457A>G, XM_011537280.2:c.457A>G, XM_011537280.1:c.457A>G, XM_006720297.3:c.1108A>G, XM_006720297.2:c.1108A>G, XM_006720297.1:c.1108A>G, XM_006720298.3:c.1105A>G, XM_006720298.2:c.1105A>G, XM_006720298.1:c.1105A>G, NM_003861.3:c.1003A>G, NM_003861.2:c.1003A>G, XM_011537279.3:c.862A>G, XM_011537279.2:c.862A>G, XM_011537279.1:c.862A>G, XM_011537278.2:c.862A>G, XM_011537278.1:c.862A>G, XM_017021733.2:c.862A>G, XM_017021733.1:c.862A>G, XM_017021737.2:c.352A>G, XM_017021737.1:c.352A>G, NM_001284206.1:c.1000A>G, XM_047431847.1:c.862A>G, XM_047431846.1:c.862A>G, NM_001284207.1:c.757A>G, XP_006720362.1:p.Ile288Val, XP_011535582.1:p.Ile153Val, XP_006720360.1:p.Ile370Val, XP_006720361.1:p.Ile369Val, NP_003852.1:p.Ile335Val, XP_011535581.1:p.Ile288Val, XP_011535580.1:p.Ile288Val, XP_016877222.1:p.Ile288Val, XP_016877226.1:p.Ile118Val, NP_001271135.1:p.Ile334Val, XP_047287803.1:p.Ile288Val, XP_047287802.1:p.Ile288Val, NP_001271136.1:p.Ile253Val

            6.

            rs1483958851 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              14:69053963 (GRCh38)
              14:69520680 (GRCh37)
              Canonical SPDI:
              NC_000014.9:69053962:T:C
              Gene:
              DCAF5 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000014.9:g.69053963T>C, NC_000014.8:g.69520680T>C, XM_006720299.4:c.2582A>G, XM_006720299.3:c.2582A>G, XM_006720299.2:c.2582A>G, XM_006720299.1:c.2582A>G, XM_011537280.4:c.2177A>G, XM_011537280.3:c.2177A>G, XM_011537280.2:c.2177A>G, XM_011537280.1:c.2177A>G, XM_006720297.3:c.2828A>G, XM_006720297.2:c.2828A>G, XM_006720297.1:c.2828A>G, XM_006720298.3:c.2825A>G, XM_006720298.2:c.2825A>G, XM_006720298.1:c.2825A>G, NM_003861.3:c.2723A>G, NM_003861.2:c.2723A>G, XM_011537279.3:c.2582A>G, XM_011537279.2:c.2582A>G, XM_011537279.1:c.2582A>G, XM_011537278.2:c.2582A>G, XM_011537278.1:c.2582A>G, XM_017021733.2:c.2582A>G, XM_017021733.1:c.2582A>G, XM_017021737.2:c.2072A>G, XM_017021737.1:c.2072A>G, NM_001284206.1:c.2720A>G, XM_047431847.1:c.2582A>G, XM_047431846.1:c.2582A>G, NM_001284207.1:c.2477A>G, XP_006720362.1:p.Asp861Gly, XP_011535582.1:p.Asp726Gly, XP_006720360.1:p.Asp943Gly, XP_006720361.1:p.Asp942Gly, NP_003852.1:p.Asp908Gly, XP_011535581.1:p.Asp861Gly, XP_011535580.1:p.Asp861Gly, XP_016877222.1:p.Asp861Gly, XP_016877226.1:p.Asp691Gly, NP_001271135.1:p.Asp907Gly, XP_047287803.1:p.Asp861Gly, XP_047287802.1:p.Asp861Gly, NP_001271136.1:p.Asp826Gly

              7.

              rs1482978495 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                14:69055157 (GRCh38)
                14:69521874 (GRCh37)
                Canonical SPDI:
                NC_000014.9:69055156:T:C
                Gene:
                DCAF5 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000014.9:g.69055157T>C, NC_000014.8:g.69521874T>C, XM_006720299.4:c.1388A>G, XM_006720299.3:c.1388A>G, XM_006720299.2:c.1388A>G, XM_006720299.1:c.1388A>G, XM_011537280.4:c.983A>G, XM_011537280.3:c.983A>G, XM_011537280.2:c.983A>G, XM_011537280.1:c.983A>G, XM_006720297.3:c.1634A>G, XM_006720297.2:c.1634A>G, XM_006720297.1:c.1634A>G, XM_006720298.3:c.1631A>G, XM_006720298.2:c.1631A>G, XM_006720298.1:c.1631A>G, NM_003861.3:c.1529A>G, NM_003861.2:c.1529A>G, XM_011537279.3:c.1388A>G, XM_011537279.2:c.1388A>G, XM_011537279.1:c.1388A>G, XM_011537278.2:c.1388A>G, XM_011537278.1:c.1388A>G, XM_017021733.2:c.1388A>G, XM_017021733.1:c.1388A>G, XM_017021737.2:c.878A>G, XM_017021737.1:c.878A>G, NM_001284206.1:c.1526A>G, XM_047431847.1:c.1388A>G, XM_047431846.1:c.1388A>G, NM_001284207.1:c.1283A>G, XP_006720362.1:p.Gln463Arg, XP_011535582.1:p.Gln328Arg, XP_006720360.1:p.Gln545Arg, XP_006720361.1:p.Gln544Arg, NP_003852.1:p.Gln510Arg, XP_011535581.1:p.Gln463Arg, XP_011535580.1:p.Gln463Arg, XP_016877222.1:p.Gln463Arg, XP_016877226.1:p.Gln293Arg, NP_001271135.1:p.Gln509Arg, XP_047287803.1:p.Gln463Arg, XP_047287802.1:p.Gln463Arg, NP_001271136.1:p.Gln428Arg

                8.

                rs1482605832 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  14:69054194 (GRCh38)
                  14:69520911 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:69054193:T:A,NC_000014.9:69054193:T:C
                  Gene:
                  DCAF5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000014.9:g.69054194T>A, NC_000014.9:g.69054194T>C, NC_000014.8:g.69520911T>A, NC_000014.8:g.69520911T>C, XM_006720299.4:c.2351A>T, XM_006720299.4:c.2351A>G, XM_006720299.3:c.2351A>T, XM_006720299.3:c.2351A>G, XM_006720299.2:c.2351A>T, XM_006720299.2:c.2351A>G, XM_006720299.1:c.2351A>T, XM_006720299.1:c.2351A>G, XM_011537280.4:c.1946A>T, XM_011537280.4:c.1946A>G, XM_011537280.3:c.1946A>T, XM_011537280.3:c.1946A>G, XM_011537280.2:c.1946A>T, XM_011537280.2:c.1946A>G, XM_011537280.1:c.1946A>T, XM_011537280.1:c.1946A>G, XM_006720297.3:c.2597A>T, XM_006720297.3:c.2597A>G, XM_006720297.2:c.2597A>T, XM_006720297.2:c.2597A>G, XM_006720297.1:c.2597A>T, XM_006720297.1:c.2597A>G, XM_006720298.3:c.2594A>T, XM_006720298.3:c.2594A>G, XM_006720298.2:c.2594A>T, XM_006720298.2:c.2594A>G, XM_006720298.1:c.2594A>T, XM_006720298.1:c.2594A>G, NM_003861.3:c.2492A>T, NM_003861.3:c.2492A>G, NM_003861.2:c.2492A>T, NM_003861.2:c.2492A>G, XM_011537279.3:c.2351A>T, XM_011537279.3:c.2351A>G, XM_011537279.2:c.2351A>T, XM_011537279.2:c.2351A>G, XM_011537279.1:c.2351A>T, XM_011537279.1:c.2351A>G, XM_011537278.2:c.2351A>T, XM_011537278.2:c.2351A>G, XM_011537278.1:c.2351A>T, XM_011537278.1:c.2351A>G, XM_017021733.2:c.2351A>T, XM_017021733.2:c.2351A>G, XM_017021733.1:c.2351A>T, XM_017021733.1:c.2351A>G, XM_017021737.2:c.1841A>T, XM_017021737.2:c.1841A>G, XM_017021737.1:c.1841A>T, XM_017021737.1:c.1841A>G, NM_001284206.1:c.2489A>T, NM_001284206.1:c.2489A>G, XM_047431847.1:c.2351A>T, XM_047431847.1:c.2351A>G, XM_047431846.1:c.2351A>T, XM_047431846.1:c.2351A>G, NM_001284207.1:c.2246A>T, NM_001284207.1:c.2246A>G, XP_006720362.1:p.Asn784Ile, XP_006720362.1:p.Asn784Ser, XP_011535582.1:p.Asn649Ile, XP_011535582.1:p.Asn649Ser, XP_006720360.1:p.Asn866Ile, XP_006720360.1:p.Asn866Ser, XP_006720361.1:p.Asn865Ile, XP_006720361.1:p.Asn865Ser, NP_003852.1:p.Asn831Ile, NP_003852.1:p.Asn831Ser, XP_011535581.1:p.Asn784Ile, XP_011535581.1:p.Asn784Ser, XP_011535580.1:p.Asn784Ile, XP_011535580.1:p.Asn784Ser, XP_016877222.1:p.Asn784Ile, XP_016877222.1:p.Asn784Ser, XP_016877226.1:p.Asn614Ile, XP_016877226.1:p.Asn614Ser, NP_001271135.1:p.Asn830Ile, NP_001271135.1:p.Asn830Ser, XP_047287803.1:p.Asn784Ile, XP_047287803.1:p.Asn784Ser, XP_047287802.1:p.Asn784Ile, XP_047287802.1:p.Asn784Ser, NP_001271136.1:p.Asn749Ile, NP_001271136.1:p.Asn749Ser

                  9.

                  rs1482603937 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    14:69054616 (GRCh38)
                    14:69521333 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:69054615:A:C
                    Gene:
                    DCAF5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.69054616A>C, NC_000014.8:g.69521333A>C, XM_006720299.4:c.1929T>G, XM_006720299.3:c.1929T>G, XM_006720299.2:c.1929T>G, XM_006720299.1:c.1929T>G, XM_011537280.4:c.1524T>G, XM_011537280.3:c.1524T>G, XM_011537280.2:c.1524T>G, XM_011537280.1:c.1524T>G, XM_006720297.3:c.2175T>G, XM_006720297.2:c.2175T>G, XM_006720297.1:c.2175T>G, XM_006720298.3:c.2172T>G, XM_006720298.2:c.2172T>G, XM_006720298.1:c.2172T>G, NM_003861.3:c.2070T>G, NM_003861.2:c.2070T>G, XM_011537279.3:c.1929T>G, XM_011537279.2:c.1929T>G, XM_011537279.1:c.1929T>G, XM_011537278.2:c.1929T>G, XM_011537278.1:c.1929T>G, XM_017021733.2:c.1929T>G, XM_017021733.1:c.1929T>G, XM_017021737.2:c.1419T>G, XM_017021737.1:c.1419T>G, NM_001284206.1:c.2067T>G, XM_047431847.1:c.1929T>G, XM_047431846.1:c.1929T>G, NM_001284207.1:c.1824T>G, XP_006720362.1:p.Asp643Glu, XP_011535582.1:p.Asp508Glu, XP_006720360.1:p.Asp725Glu, XP_006720361.1:p.Asp724Glu, NP_003852.1:p.Asp690Glu, XP_011535581.1:p.Asp643Glu, XP_011535580.1:p.Asp643Glu, XP_016877222.1:p.Asp643Glu, XP_016877226.1:p.Asp473Glu, NP_001271135.1:p.Asp689Glu, XP_047287803.1:p.Asp643Glu, XP_047287802.1:p.Asp643Glu, NP_001271136.1:p.Asp608Glu

                    10.

                    rs1481847922 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      14:69055330 (GRCh38)
                      14:69522047 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:69055329:C:T
                      Gene:
                      DCAF5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1479809106 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        14:69053884 (GRCh38)
                        14:69520601 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:69053883:G:C,NC_000014.9:69053883:G:T
                        Gene:
                        DCAF5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000031/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.69053884G>C, NC_000014.9:g.69053884G>T, NC_000014.8:g.69520601G>C, NC_000014.8:g.69520601G>T, XM_006720299.4:c.2661C>G, XM_006720299.4:c.2661C>A, XM_006720299.3:c.2661C>G, XM_006720299.3:c.2661C>A, XM_006720299.2:c.2661C>G, XM_006720299.2:c.2661C>A, XM_006720299.1:c.2661C>G, XM_006720299.1:c.2661C>A, XM_011537280.4:c.2256C>G, XM_011537280.4:c.2256C>A, XM_011537280.3:c.2256C>G, XM_011537280.3:c.2256C>A, XM_011537280.2:c.2256C>G, XM_011537280.2:c.2256C>A, XM_011537280.1:c.2256C>G, XM_011537280.1:c.2256C>A, XM_006720297.3:c.2907C>G, XM_006720297.3:c.2907C>A, XM_006720297.2:c.2907C>G, XM_006720297.2:c.2907C>A, XM_006720297.1:c.2907C>G, XM_006720297.1:c.2907C>A, XM_006720298.3:c.2904C>G, XM_006720298.3:c.2904C>A, XM_006720298.2:c.2904C>G, XM_006720298.2:c.2904C>A, XM_006720298.1:c.2904C>G, XM_006720298.1:c.2904C>A, NM_003861.3:c.2802C>G, NM_003861.3:c.2802C>A, NM_003861.2:c.2802C>G, NM_003861.2:c.2802C>A, XM_011537279.3:c.2661C>G, XM_011537279.3:c.2661C>A, XM_011537279.2:c.2661C>G, XM_011537279.2:c.2661C>A, XM_011537279.1:c.2661C>G, XM_011537279.1:c.2661C>A, XM_011537278.2:c.2661C>G, XM_011537278.2:c.2661C>A, XM_011537278.1:c.2661C>G, XM_011537278.1:c.2661C>A, XM_017021733.2:c.2661C>G, XM_017021733.2:c.2661C>A, XM_017021733.1:c.2661C>G, XM_017021733.1:c.2661C>A, XM_017021737.2:c.2151C>G, XM_017021737.2:c.2151C>A, XM_017021737.1:c.2151C>G, XM_017021737.1:c.2151C>A, NM_001284206.1:c.2799C>G, NM_001284206.1:c.2799C>A, XM_047431847.1:c.2661C>G, XM_047431847.1:c.2661C>A, XM_047431846.1:c.2661C>G, XM_047431846.1:c.2661C>A, NM_001284207.1:c.2556C>G, NM_001284207.1:c.2556C>A

                        12.

                        rs1473327654 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          14:69054165 (GRCh38)
                          14:69520882 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:69054164:G:A,NC_000014.9:69054164:G:T
                          Gene:
                          DCAF5 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.69054165G>A, NC_000014.9:g.69054165G>T, NC_000014.8:g.69520882G>A, NC_000014.8:g.69520882G>T, XM_006720299.4:c.2380C>T, XM_006720299.4:c.2380C>A, XM_006720299.3:c.2380C>T, XM_006720299.3:c.2380C>A, XM_006720299.2:c.2380C>T, XM_006720299.2:c.2380C>A, XM_006720299.1:c.2380C>T, XM_006720299.1:c.2380C>A, XM_011537280.4:c.1975C>T, XM_011537280.4:c.1975C>A, XM_011537280.3:c.1975C>T, XM_011537280.3:c.1975C>A, XM_011537280.2:c.1975C>T, XM_011537280.2:c.1975C>A, XM_011537280.1:c.1975C>T, XM_011537280.1:c.1975C>A, XM_006720297.3:c.2626C>T, XM_006720297.3:c.2626C>A, XM_006720297.2:c.2626C>T, XM_006720297.2:c.2626C>A, XM_006720297.1:c.2626C>T, XM_006720297.1:c.2626C>A, XM_006720298.3:c.2623C>T, XM_006720298.3:c.2623C>A, XM_006720298.2:c.2623C>T, XM_006720298.2:c.2623C>A, XM_006720298.1:c.2623C>T, XM_006720298.1:c.2623C>A, NM_003861.3:c.2521C>T, NM_003861.3:c.2521C>A, NM_003861.2:c.2521C>T, NM_003861.2:c.2521C>A, XM_011537279.3:c.2380C>T, XM_011537279.3:c.2380C>A, XM_011537279.2:c.2380C>T, XM_011537279.2:c.2380C>A, XM_011537279.1:c.2380C>T, XM_011537279.1:c.2380C>A, XM_011537278.2:c.2380C>T, XM_011537278.2:c.2380C>A, XM_011537278.1:c.2380C>T, XM_011537278.1:c.2380C>A, XM_017021733.2:c.2380C>T, XM_017021733.2:c.2380C>A, XM_017021733.1:c.2380C>T, XM_017021733.1:c.2380C>A, XM_017021737.2:c.1870C>T, XM_017021737.2:c.1870C>A, XM_017021737.1:c.1870C>T, XM_017021737.1:c.1870C>A, NM_001284206.1:c.2518C>T, NM_001284206.1:c.2518C>A, XM_047431847.1:c.2380C>T, XM_047431847.1:c.2380C>A, XM_047431846.1:c.2380C>T, XM_047431846.1:c.2380C>A, NM_001284207.1:c.2275C>T, NM_001284207.1:c.2275C>A, XP_006720362.1:p.Pro794Ser, XP_006720362.1:p.Pro794Thr, XP_011535582.1:p.Pro659Ser, XP_011535582.1:p.Pro659Thr, XP_006720360.1:p.Pro876Ser, XP_006720360.1:p.Pro876Thr, XP_006720361.1:p.Pro875Ser, XP_006720361.1:p.Pro875Thr, NP_003852.1:p.Pro841Ser, NP_003852.1:p.Pro841Thr, XP_011535581.1:p.Pro794Ser, XP_011535581.1:p.Pro794Thr, XP_011535580.1:p.Pro794Ser, XP_011535580.1:p.Pro794Thr, XP_016877222.1:p.Pro794Ser, XP_016877222.1:p.Pro794Thr, XP_016877226.1:p.Pro624Ser, XP_016877226.1:p.Pro624Thr, NP_001271135.1:p.Pro840Ser, NP_001271135.1:p.Pro840Thr, XP_047287803.1:p.Pro794Ser, XP_047287803.1:p.Pro794Thr, XP_047287802.1:p.Pro794Ser, XP_047287802.1:p.Pro794Thr, NP_001271136.1:p.Pro759Ser, NP_001271136.1:p.Pro759Thr

                          13.

                          rs1472275679 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            14:69054971 (GRCh38)
                            14:69521688 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:69054970:T:A
                            Gene:
                            DCAF5 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000014.9:g.69054971T>A, NC_000014.8:g.69521688T>A, XM_006720299.4:c.1574A>T, XM_006720299.3:c.1574A>T, XM_006720299.2:c.1574A>T, XM_006720299.1:c.1574A>T, XM_011537280.4:c.1169A>T, XM_011537280.3:c.1169A>T, XM_011537280.2:c.1169A>T, XM_011537280.1:c.1169A>T, XM_006720297.3:c.1820A>T, XM_006720297.2:c.1820A>T, XM_006720297.1:c.1820A>T, XM_006720298.3:c.1817A>T, XM_006720298.2:c.1817A>T, XM_006720298.1:c.1817A>T, NM_003861.3:c.1715A>T, NM_003861.2:c.1715A>T, XM_011537279.3:c.1574A>T, XM_011537279.2:c.1574A>T, XM_011537279.1:c.1574A>T, XM_011537278.2:c.1574A>T, XM_011537278.1:c.1574A>T, XM_017021733.2:c.1574A>T, XM_017021733.1:c.1574A>T, XM_017021737.2:c.1064A>T, XM_017021737.1:c.1064A>T, NM_001284206.1:c.1712A>T, XM_047431847.1:c.1574A>T, XM_047431846.1:c.1574A>T, NM_001284207.1:c.1469A>T, XP_006720362.1:p.Glu525Val, XP_011535582.1:p.Glu390Val, XP_006720360.1:p.Glu607Val, XP_006720361.1:p.Glu606Val, NP_003852.1:p.Glu572Val, XP_011535581.1:p.Glu525Val, XP_011535580.1:p.Glu525Val, XP_016877222.1:p.Glu525Val, XP_016877226.1:p.Glu355Val, NP_001271135.1:p.Glu571Val, XP_047287803.1:p.Glu525Val, XP_047287802.1:p.Glu525Val, NP_001271136.1:p.Glu490Val

                            14.

                            rs1472150176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              14:69054548 (GRCh38)
                              14:69521265 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:69054547:T:C
                              Gene:
                              DCAF5 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000014.9:g.69054548T>C, NC_000014.8:g.69521265T>C, XM_006720299.4:c.1997A>G, XM_006720299.3:c.1997A>G, XM_006720299.2:c.1997A>G, XM_006720299.1:c.1997A>G, XM_011537280.4:c.1592A>G, XM_011537280.3:c.1592A>G, XM_011537280.2:c.1592A>G, XM_011537280.1:c.1592A>G, XM_006720297.3:c.2243A>G, XM_006720297.2:c.2243A>G, XM_006720297.1:c.2243A>G, XM_006720298.3:c.2240A>G, XM_006720298.2:c.2240A>G, XM_006720298.1:c.2240A>G, NM_003861.3:c.2138A>G, NM_003861.2:c.2138A>G, XM_011537279.3:c.1997A>G, XM_011537279.2:c.1997A>G, XM_011537279.1:c.1997A>G, XM_011537278.2:c.1997A>G, XM_011537278.1:c.1997A>G, XM_017021733.2:c.1997A>G, XM_017021733.1:c.1997A>G, XM_017021737.2:c.1487A>G, XM_017021737.1:c.1487A>G, NM_001284206.1:c.2135A>G, XM_047431847.1:c.1997A>G, XM_047431846.1:c.1997A>G, NM_001284207.1:c.1892A>G, XP_006720362.1:p.Asn666Ser, XP_011535582.1:p.Asn531Ser, XP_006720360.1:p.Asn748Ser, XP_006720361.1:p.Asn747Ser, NP_003852.1:p.Asn713Ser, XP_011535581.1:p.Asn666Ser, XP_011535580.1:p.Asn666Ser, XP_016877222.1:p.Asn666Ser, XP_016877226.1:p.Asn496Ser, NP_001271135.1:p.Asn712Ser, XP_047287803.1:p.Asn666Ser, XP_047287802.1:p.Asn666Ser, NP_001271136.1:p.Asn631Ser

                              15.

                              rs1470338939 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                14:69055092 (GRCh38)
                                14:69521809 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:69055091:C:T
                                Gene:
                                DCAF5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000035/1 (TOMMO)
                                HGVS:
                                NC_000014.9:g.69055092C>T, NC_000014.8:g.69521809C>T, XM_006720299.4:c.1453G>A, XM_006720299.3:c.1453G>A, XM_006720299.2:c.1453G>A, XM_006720299.1:c.1453G>A, XM_011537280.4:c.1048G>A, XM_011537280.3:c.1048G>A, XM_011537280.2:c.1048G>A, XM_011537280.1:c.1048G>A, XM_006720297.3:c.1699G>A, XM_006720297.2:c.1699G>A, XM_006720297.1:c.1699G>A, XM_006720298.3:c.1696G>A, XM_006720298.2:c.1696G>A, XM_006720298.1:c.1696G>A, NM_003861.3:c.1594G>A, NM_003861.2:c.1594G>A, XM_011537279.3:c.1453G>A, XM_011537279.2:c.1453G>A, XM_011537279.1:c.1453G>A, XM_011537278.2:c.1453G>A, XM_011537278.1:c.1453G>A, XM_017021733.2:c.1453G>A, XM_017021733.1:c.1453G>A, XM_017021737.2:c.943G>A, XM_017021737.1:c.943G>A, NM_001284206.1:c.1591G>A, XM_047431847.1:c.1453G>A, XM_047431846.1:c.1453G>A, NM_001284207.1:c.1348G>A, XP_006720362.1:p.Asp485Asn, XP_011535582.1:p.Asp350Asn, XP_006720360.1:p.Asp567Asn, XP_006720361.1:p.Asp566Asn, NP_003852.1:p.Asp532Asn, XP_011535581.1:p.Asp485Asn, XP_011535580.1:p.Asp485Asn, XP_016877222.1:p.Asp485Asn, XP_016877226.1:p.Asp315Asn, NP_001271135.1:p.Asp531Asn, XP_047287803.1:p.Asp485Asn, XP_047287802.1:p.Asp485Asn, NP_001271136.1:p.Asp450Asn

                                16.

                                rs1465872277 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  14:69054342 (GRCh38)
                                  14:69521059 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:69054341:C:T
                                  Gene:
                                  DCAF5 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.001/3 (KOREAN)
                                  HGVS:
                                  NC_000014.9:g.69054342C>T, NC_000014.8:g.69521059C>T, XM_006720299.4:c.2203G>A, XM_006720299.3:c.2203G>A, XM_006720299.2:c.2203G>A, XM_006720299.1:c.2203G>A, XM_011537280.4:c.1798G>A, XM_011537280.3:c.1798G>A, XM_011537280.2:c.1798G>A, XM_011537280.1:c.1798G>A, XM_006720297.3:c.2449G>A, XM_006720297.2:c.2449G>A, XM_006720297.1:c.2449G>A, XM_006720298.3:c.2446G>A, XM_006720298.2:c.2446G>A, XM_006720298.1:c.2446G>A, NM_003861.3:c.2344G>A, NM_003861.2:c.2344G>A, XM_011537279.3:c.2203G>A, XM_011537279.2:c.2203G>A, XM_011537279.1:c.2203G>A, XM_011537278.2:c.2203G>A, XM_011537278.1:c.2203G>A, XM_017021733.2:c.2203G>A, XM_017021733.1:c.2203G>A, XM_017021737.2:c.1693G>A, XM_017021737.1:c.1693G>A, NM_001284206.1:c.2341G>A, XM_047431847.1:c.2203G>A, XM_047431846.1:c.2203G>A, NM_001284207.1:c.2098G>A, XP_006720362.1:p.Gly735Arg, XP_011535582.1:p.Gly600Arg, XP_006720360.1:p.Gly817Arg, XP_006720361.1:p.Gly816Arg, NP_003852.1:p.Gly782Arg, XP_011535581.1:p.Gly735Arg, XP_011535580.1:p.Gly735Arg, XP_016877222.1:p.Gly735Arg, XP_016877226.1:p.Gly565Arg, NP_001271135.1:p.Gly781Arg, XP_047287803.1:p.Gly735Arg, XP_047287802.1:p.Gly735Arg, NP_001271136.1:p.Gly700Arg

                                  17.

                                  rs1464514417 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    14:69055097 (GRCh38)
                                    14:69521814 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:69055096:T:G
                                    Gene:
                                    DCAF5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000014.9:g.69055097T>G, NC_000014.8:g.69521814T>G, XM_006720299.4:c.1448A>C, XM_006720299.3:c.1448A>C, XM_006720299.2:c.1448A>C, XM_006720299.1:c.1448A>C, XM_011537280.4:c.1043A>C, XM_011537280.3:c.1043A>C, XM_011537280.2:c.1043A>C, XM_011537280.1:c.1043A>C, XM_006720297.3:c.1694A>C, XM_006720297.2:c.1694A>C, XM_006720297.1:c.1694A>C, XM_006720298.3:c.1691A>C, XM_006720298.2:c.1691A>C, XM_006720298.1:c.1691A>C, NM_003861.3:c.1589A>C, NM_003861.2:c.1589A>C, XM_011537279.3:c.1448A>C, XM_011537279.2:c.1448A>C, XM_011537279.1:c.1448A>C, XM_011537278.2:c.1448A>C, XM_011537278.1:c.1448A>C, XM_017021733.2:c.1448A>C, XM_017021733.1:c.1448A>C, XM_017021737.2:c.938A>C, XM_017021737.1:c.938A>C, NM_001284206.1:c.1586A>C, XM_047431847.1:c.1448A>C, XM_047431846.1:c.1448A>C, NM_001284207.1:c.1343A>C, XP_006720362.1:p.Glu483Ala, XP_011535582.1:p.Glu348Ala, XP_006720360.1:p.Glu565Ala, XP_006720361.1:p.Glu564Ala, NP_003852.1:p.Glu530Ala, XP_011535581.1:p.Glu483Ala, XP_011535580.1:p.Glu483Ala, XP_016877222.1:p.Glu483Ala, XP_016877226.1:p.Glu313Ala, NP_001271135.1:p.Glu529Ala, XP_047287803.1:p.Glu483Ala, XP_047287802.1:p.Glu483Ala, NP_001271136.1:p.Glu448Ala

                                    18.

                                    rs1463334506 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:69055035 (GRCh38)
                                      14:69521752 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:69055034:G:A
                                      Gene:
                                      DCAF5 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0./0 (GnomAD)
                                      A=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.69055035G>A, NC_000014.8:g.69521752G>A, XM_006720299.4:c.1510C>T, XM_006720299.3:c.1510C>T, XM_006720299.2:c.1510C>T, XM_006720299.1:c.1510C>T, XM_011537280.4:c.1105C>T, XM_011537280.3:c.1105C>T, XM_011537280.2:c.1105C>T, XM_011537280.1:c.1105C>T, XM_006720297.3:c.1756C>T, XM_006720297.2:c.1756C>T, XM_006720297.1:c.1756C>T, XM_006720298.3:c.1753C>T, XM_006720298.2:c.1753C>T, XM_006720298.1:c.1753C>T, NM_003861.3:c.1651C>T, NM_003861.2:c.1651C>T, XM_011537279.3:c.1510C>T, XM_011537279.2:c.1510C>T, XM_011537279.1:c.1510C>T, XM_011537278.2:c.1510C>T, XM_011537278.1:c.1510C>T, XM_017021733.2:c.1510C>T, XM_017021733.1:c.1510C>T, XM_017021737.2:c.1000C>T, XM_017021737.1:c.1000C>T, NM_001284206.1:c.1648C>T, XM_047431847.1:c.1510C>T, XM_047431846.1:c.1510C>T, NM_001284207.1:c.1405C>T, XP_006720362.1:p.Arg504Trp, XP_011535582.1:p.Arg369Trp, XP_006720360.1:p.Arg586Trp, XP_006720361.1:p.Arg585Trp, NP_003852.1:p.Arg551Trp, XP_011535581.1:p.Arg504Trp, XP_011535580.1:p.Arg504Trp, XP_016877222.1:p.Arg504Trp, XP_016877226.1:p.Arg334Trp, NP_001271135.1:p.Arg550Trp, XP_047287803.1:p.Arg504Trp, XP_047287802.1:p.Arg504Trp, NP_001271136.1:p.Arg469Trp

                                      19.

                                      rs1462387436 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:69054817 (GRCh38)
                                        14:69521534 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:69054816:A:G
                                        Gene:
                                        DCAF5 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1459317304 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:69054170 (GRCh38)
                                          14:69520887 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:69054169:G:A
                                          Gene:
                                          DCAF5 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000122/2 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000446/2 (Estonian)
                                          HGVS:
                                          NC_000014.9:g.69054170G>A, NC_000014.8:g.69520887G>A, XM_006720299.4:c.2375C>T, XM_006720299.3:c.2375C>T, XM_006720299.2:c.2375C>T, XM_006720299.1:c.2375C>T, XM_011537280.4:c.1970C>T, XM_011537280.3:c.1970C>T, XM_011537280.2:c.1970C>T, XM_011537280.1:c.1970C>T, XM_006720297.3:c.2621C>T, XM_006720297.2:c.2621C>T, XM_006720297.1:c.2621C>T, XM_006720298.3:c.2618C>T, XM_006720298.2:c.2618C>T, XM_006720298.1:c.2618C>T, NM_003861.3:c.2516C>T, NM_003861.2:c.2516C>T, XM_011537279.3:c.2375C>T, XM_011537279.2:c.2375C>T, XM_011537279.1:c.2375C>T, XM_011537278.2:c.2375C>T, XM_011537278.1:c.2375C>T, XM_017021733.2:c.2375C>T, XM_017021733.1:c.2375C>T, XM_017021737.2:c.1865C>T, XM_017021737.1:c.1865C>T, NM_001284206.1:c.2513C>T, XM_047431847.1:c.2375C>T, XM_047431846.1:c.2375C>T, NM_001284207.1:c.2270C>T, XP_006720362.1:p.Pro792Leu, XP_011535582.1:p.Pro657Leu, XP_006720360.1:p.Pro874Leu, XP_006720361.1:p.Pro873Leu, NP_003852.1:p.Pro839Leu, XP_011535581.1:p.Pro792Leu, XP_011535580.1:p.Pro792Leu, XP_016877222.1:p.Pro792Leu, XP_016877226.1:p.Pro622Leu, NP_001271135.1:p.Pro838Leu, XP_047287803.1:p.Pro792Leu, XP_047287802.1:p.Pro792Leu, NP_001271136.1:p.Pro757Leu

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