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Items: 1 to 20 of 686

1.

rs1487009334 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    16:3383122 (GRCh38)
    16:3433122 (GRCh37)
    Canonical SPDI:
    NC_000016.10:3383121:A:C
    Gene:
    ZSCAN32 (Varview), LOC105371059 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000008/2 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    NC_000016.10:g.3383122A>C, NC_000016.9:g.3433122A>C, NM_017810.4:c.1188T>G, NM_017810.3:c.1188T>G, NM_017810.2:c.1188T>G, XM_017023371.3:c.1824T>G, XM_017023371.2:c.1824T>G, XM_017023371.1:c.1824T>G, NM_001324340.2:c.1188T>G, NM_001324340.1:c.1188T>G, NM_001284527.2:c.1824T>G, NM_001284527.1:c.1824T>G, NM_001324342.2:c.1188T>G, NM_001324342.1:c.1188T>G, NM_001324344.2:c.1188T>G, NM_001324344.1:c.1188T>G, NM_001324341.2:c.1188T>G, NM_001324341.1:c.1188T>G, NM_001324345.2:c.1188T>G, NM_001324345.1:c.1188T>G, NM_001324346.2:c.1605T>G, NM_001324346.1:c.1605T>G, NM_001284528.2:c.957T>G, NM_001284528.1:c.957T>G, NM_001324343.2:c.1425T>G, NM_001324343.1:c.1425T>G, NM_001284529.2:c.957T>G, NM_001284529.1:c.957T>G, XM_047434275.1:c.1563T>G, NP_060280.2:p.Ile396Met, XP_016878860.1:p.Ile608Met, NP_001311269.1:p.Ile396Met, NP_001271456.1:p.Ile608Met, NP_001311271.1:p.Ile396Met, NP_001311273.1:p.Ile396Met, NP_001311270.1:p.Ile396Met, NP_001311274.1:p.Ile396Met, NP_001311275.1:p.Ile535Met, NP_001271457.1:p.Ile319Met, NP_001311272.1:p.Ile475Met, NP_001271458.1:p.Ile319Met, XP_047290231.1:p.Ile521Met

    2.

    rs1486360065 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:3383036 (GRCh38)
      16:3433036 (GRCh37)
      Canonical SPDI:
      NC_000016.10:3383035:A:G
      Gene:
      ZSCAN32 (Varview), LOC105371059 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000016.10:g.3383036A>G, NC_000016.9:g.3433036A>G, NM_017810.4:c.1274T>C, NM_017810.3:c.1274T>C, NM_017810.2:c.1274T>C, XM_017023371.3:c.1910T>C, XM_017023371.2:c.1910T>C, XM_017023371.1:c.1910T>C, NM_001324340.2:c.1274T>C, NM_001324340.1:c.1274T>C, NM_001284527.2:c.1910T>C, NM_001284527.1:c.1910T>C, NM_001324342.2:c.1274T>C, NM_001324342.1:c.1274T>C, NM_001324344.2:c.1274T>C, NM_001324344.1:c.1274T>C, NM_001324341.2:c.1274T>C, NM_001324341.1:c.1274T>C, NM_001324345.2:c.1274T>C, NM_001324345.1:c.1274T>C, NM_001324346.2:c.1691T>C, NM_001324346.1:c.1691T>C, NM_001284528.2:c.1043T>C, NM_001284528.1:c.1043T>C, NM_001324343.2:c.1511T>C, NM_001324343.1:c.1511T>C, NM_001284529.2:c.1043T>C, NM_001284529.1:c.1043T>C, XM_047434275.1:c.1649T>C, NP_060280.2:p.Val425Ala, XP_016878860.1:p.Val637Ala, NP_001311269.1:p.Val425Ala, NP_001271456.1:p.Val637Ala, NP_001311271.1:p.Val425Ala, NP_001311273.1:p.Val425Ala, NP_001311270.1:p.Val425Ala, NP_001311274.1:p.Val425Ala, NP_001311275.1:p.Val564Ala, NP_001271457.1:p.Val348Ala, NP_001311272.1:p.Val504Ala, NP_001271458.1:p.Val348Ala, XP_047290231.1:p.Val550Ala

      3.

      rs1486252255 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TAAAAGATACAAGGCTCA [Show Flanks]
        Chromosome:
        16:3384693 (GRCh38)
        16:3434694 (GRCh37)
        Canonical SPDI:
        NC_000016.10:3384693:CTCATAAAAGATACAAGGCTCA:CTCATAAAAGATACAAGGCTCATAAAAGATACAAGGCTCA
        Gene:
        ZSCAN32 (Varview), LOC105371059 (Varview)
        Functional Consequence:
        coding_sequence_variant,inframe_insertion,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CTCATAAAAGATACAAGGCTCATAAAAGATACAAGGCTCA=0./0 (ALFA)
        CTCATAAAAGATACAAGG=0.000004/1 (TOPMED)
        CTCATAAAAGATACAAGG=0.000007/1 (GnomAD)
        CTCATAAAAGATACAAGG=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000016.10:g.3384698_3384715dup, NC_000016.9:g.3434698_3434715dup, NM_017810.4:c.346_363dup, NM_017810.3:c.346_363dup, NM_017810.2:c.346_363dup, XM_017023371.3:c.982_999dup, XM_017023371.2:c.982_999dup, XM_017023371.1:c.982_999dup, NM_001324340.2:c.346_363dup, NM_001324340.1:c.346_363dup, NM_001284527.2:c.982_999dup, NM_001284527.1:c.982_999dup, NM_001324342.2:c.346_363dup, NM_001324342.1:c.346_363dup, NM_001324344.2:c.346_363dup, NM_001324344.1:c.346_363dup, NM_001324341.2:c.346_363dup, NM_001324341.1:c.346_363dup, NM_001324345.2:c.346_363dup, NM_001324345.1:c.346_363dup, NM_001324346.2:c.763_780dup, NM_001324346.1:c.763_780dup, NM_001284528.2:c.115_132dup, NM_001284528.1:c.115_132dup, NM_001324343.2:c.583_600dup, NM_001324343.1:c.583_600dup, NM_001284529.2:c.115_132dup, NM_001284529.1:c.115_132dup, XM_047434275.1:c.721_738dup, NM_024340.1:c.*206_*223dup, NP_060280.2:p.Pro116_Glu121dup, XP_016878860.1:p.Pro328_Glu333dup, NP_001311269.1:p.Pro116_Glu121dup, NP_001271456.1:p.Pro328_Glu333dup, NP_001311271.1:p.Pro116_Glu121dup, NP_001311273.1:p.Pro116_Glu121dup, NP_001311270.1:p.Pro116_Glu121dup, NP_001311274.1:p.Pro116_Glu121dup, NP_001311275.1:p.Pro255_Glu260dup, NP_001271457.1:p.Pro39_Glu44dup, NP_001311272.1:p.Pro195_Glu200dup, NP_001271458.1:p.Pro39_Glu44dup, XP_047290231.1:p.Pro241_Glu246dup

        4.

        rs1484580728 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          16:3393814 (GRCh38)
          16:3443814 (GRCh37)
          Canonical SPDI:
          NC_000016.10:3393813:C:A
          Gene:
          ZSCAN32 (Varview), LOC105371059 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency
          MAF:
          A=0.000007/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1484227334 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:3397362 (GRCh38)
            16:3447362 (GRCh37)
            Canonical SPDI:
            NC_000016.10:3397361:G:A
            Gene:
            ZSCAN32 (Varview), LOC105371059 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000006/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1482489052 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              16:3393703 (GRCh38)
              16:3443703 (GRCh37)
              Canonical SPDI:
              NC_000016.10:3393702:G:T
              Gene:
              ZSCAN32 (Varview), LOC105371059 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,5_prime_UTR_variant,intron_variant
              Validated:
              by frequency
              MAF:
              T=0.000007/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1482164509 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                16:3397354 (GRCh38)
                16:3447354 (GRCh37)
                Canonical SPDI:
                NC_000016.10:3397353:C:A,NC_000016.10:3397353:C:T
                Gene:
                ZSCAN32 (Varview), LOC105371059 (Varview)
                Functional Consequence:
                intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000028/1 (ALFA)
                T=0.000006/1 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                HGVS:
                NC_000016.10:g.3397354C>A, NC_000016.10:g.3397354C>T, NC_000016.9:g.3447354C>A, NC_000016.9:g.3447354C>T, NG_053015.1:g.1165C>A, NG_053015.1:g.1165C>T, NM_017810.4:c.-317G>T, NM_017810.4:c.-317G>A, NM_017810.3:c.-317G>T, NM_017810.3:c.-317G>A, NM_017810.2:c.-317G>T, NM_017810.2:c.-317G>A, XM_017023371.3:c.204G>T, XM_017023371.3:c.204G>A, XM_017023371.2:c.204G>T, XM_017023371.2:c.204G>A, XM_017023371.1:c.204G>T, XM_017023371.1:c.204G>A, NM_001324340.2:c.-483G>T, NM_001324340.2:c.-483G>A, NM_001324340.1:c.-483G>T, NM_001324340.1:c.-483G>A, NM_001284527.2:c.204G>T, NM_001284527.2:c.204G>A, NM_001284527.1:c.204G>T, NM_001284527.1:c.204G>A, NM_001324342.2:c.-388G>T, NM_001324342.2:c.-388G>A, NM_001324342.1:c.-388G>T, NM_001324342.1:c.-388G>A, NM_001324344.2:c.-317G>T, NM_001324344.2:c.-317G>A, NM_001324344.1:c.-317G>T, NM_001324344.1:c.-317G>A, NM_001324341.2:c.-267G>T, NM_001324341.2:c.-267G>A, NM_001324341.1:c.-267G>T, NM_001324341.1:c.-267G>A, NM_001324345.2:c.-222G>T, NM_001324345.2:c.-222G>A, NM_001324345.1:c.-222G>T, NM_001324345.1:c.-222G>A, NM_001324346.2:c.204G>T, NM_001324346.2:c.204G>A, NM_001324346.1:c.204G>T, NM_001324346.1:c.204G>A, NM_001284528.2:c.-279G>T, NM_001284528.2:c.-279G>A, NM_001284528.1:c.-279G>T, NM_001284528.1:c.-279G>A, XM_047434275.1:c.204G>T, XM_047434275.1:c.204G>A, XR_007064949.1:n.455C>A, XR_007064949.1:n.455C>T, NM_024340.1:c.201G>T, NM_024340.1:c.201G>A

                8.

                rs1480020758 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  16:3384841 (GRCh38)
                  16:3434841 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:3384840:G:A,NC_000016.10:3384840:G:C
                  Gene:
                  ZSCAN32 (Varview), LOC105371059 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.00005/1 (ALFA)
                  HGVS:
                  NC_000016.10:g.3384841G>A, NC_000016.10:g.3384841G>C, NC_000016.9:g.3434841G>A, NC_000016.9:g.3434841G>C, NM_017810.4:c.216C>T, NM_017810.4:c.216C>G, NM_017810.3:c.216C>T, NM_017810.3:c.216C>G, NM_017810.2:c.216C>T, NM_017810.2:c.216C>G, XM_017023371.3:c.852C>T, XM_017023371.3:c.852C>G, XM_017023371.2:c.852C>T, XM_017023371.2:c.852C>G, XM_017023371.1:c.852C>T, XM_017023371.1:c.852C>G, NM_001324340.2:c.216C>T, NM_001324340.2:c.216C>G, NM_001324340.1:c.216C>T, NM_001324340.1:c.216C>G, NM_001284527.2:c.852C>T, NM_001284527.2:c.852C>G, NM_001284527.1:c.852C>T, NM_001284527.1:c.852C>G, NM_001324342.2:c.216C>T, NM_001324342.2:c.216C>G, NM_001324342.1:c.216C>T, NM_001324342.1:c.216C>G, NM_001324344.2:c.216C>T, NM_001324344.2:c.216C>G, NM_001324344.1:c.216C>T, NM_001324344.1:c.216C>G, NM_001324341.2:c.216C>T, NM_001324341.2:c.216C>G, NM_001324341.1:c.216C>T, NM_001324341.1:c.216C>G, NM_001324345.2:c.216C>T, NM_001324345.2:c.216C>G, NM_001324345.1:c.216C>T, NM_001324345.1:c.216C>G, NM_001324346.2:c.633C>T, NM_001324346.2:c.633C>G, NM_001324346.1:c.633C>T, NM_001324346.1:c.633C>G, NM_001284528.2:c.-16C>T, NM_001284528.2:c.-16C>G, NM_001284528.1:c.-16C>T, NM_001284528.1:c.-16C>G, NM_001324343.2:c.453C>T, NM_001324343.2:c.453C>G, NM_001324343.1:c.453C>T, NM_001324343.1:c.453C>G, NM_001284529.2:c.-16C>T, NM_001284529.2:c.-16C>G, NM_001284529.1:c.-16C>T, NM_001284529.1:c.-16C>G, XM_047434275.1:c.591C>T, XM_047434275.1:c.591C>G, NM_024340.1:c.*76C>T, NM_024340.1:c.*76C>G, NP_060280.2:p.Ser72Arg, XP_016878860.1:p.Ser284Arg, NP_001311269.1:p.Ser72Arg, NP_001271456.1:p.Ser284Arg, NP_001311271.1:p.Ser72Arg, NP_001311273.1:p.Ser72Arg, NP_001311270.1:p.Ser72Arg, NP_001311274.1:p.Ser72Arg, NP_001311275.1:p.Ser211Arg, NP_001311272.1:p.Ser151Arg, XP_047290231.1:p.Ser197Arg

                  9.

                  rs1475959812 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    16:3382997 (GRCh38)
                    16:3432997 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:3382996:G:C,NC_000016.10:3382996:G:T
                    Gene:
                    ZSCAN32 (Varview), LOC105371059 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.3382997G>C, NC_000016.10:g.3382997G>T, NC_000016.9:g.3432997G>C, NC_000016.9:g.3432997G>T, NM_017810.4:c.1313C>G, NM_017810.4:c.1313C>A, NM_017810.3:c.1313C>G, NM_017810.3:c.1313C>A, NM_017810.2:c.1313C>G, NM_017810.2:c.1313C>A, XM_017023371.3:c.1949C>G, XM_017023371.3:c.1949C>A, XM_017023371.2:c.1949C>G, XM_017023371.2:c.1949C>A, XM_017023371.1:c.1949C>G, XM_017023371.1:c.1949C>A, NM_001324340.2:c.1313C>G, NM_001324340.2:c.1313C>A, NM_001324340.1:c.1313C>G, NM_001324340.1:c.1313C>A, NM_001284527.2:c.1949C>G, NM_001284527.2:c.1949C>A, NM_001284527.1:c.1949C>G, NM_001284527.1:c.1949C>A, NM_001324342.2:c.1313C>G, NM_001324342.2:c.1313C>A, NM_001324342.1:c.1313C>G, NM_001324342.1:c.1313C>A, NM_001324344.2:c.1313C>G, NM_001324344.2:c.1313C>A, NM_001324344.1:c.1313C>G, NM_001324344.1:c.1313C>A, NM_001324341.2:c.1313C>G, NM_001324341.2:c.1313C>A, NM_001324341.1:c.1313C>G, NM_001324341.1:c.1313C>A, NM_001324345.2:c.1313C>G, NM_001324345.2:c.1313C>A, NM_001324345.1:c.1313C>G, NM_001324345.1:c.1313C>A, NM_001324346.2:c.1730C>G, NM_001324346.2:c.1730C>A, NM_001324346.1:c.1730C>G, NM_001324346.1:c.1730C>A, NM_001284528.2:c.1082C>G, NM_001284528.2:c.1082C>A, NM_001284528.1:c.1082C>G, NM_001284528.1:c.1082C>A, NM_001324343.2:c.1550C>G, NM_001324343.2:c.1550C>A, NM_001324343.1:c.1550C>G, NM_001324343.1:c.1550C>A, NM_001284529.2:c.1082C>G, NM_001284529.2:c.1082C>A, NM_001284529.1:c.1082C>G, NM_001284529.1:c.1082C>A, XM_047434275.1:c.1688C>G, XM_047434275.1:c.1688C>A, NP_060280.2:p.Ala438Gly, NP_060280.2:p.Ala438Asp, XP_016878860.1:p.Ala650Gly, XP_016878860.1:p.Ala650Asp, NP_001311269.1:p.Ala438Gly, NP_001311269.1:p.Ala438Asp, NP_001271456.1:p.Ala650Gly, NP_001271456.1:p.Ala650Asp, NP_001311271.1:p.Ala438Gly, NP_001311271.1:p.Ala438Asp, NP_001311273.1:p.Ala438Gly, NP_001311273.1:p.Ala438Asp, NP_001311270.1:p.Ala438Gly, NP_001311270.1:p.Ala438Asp, NP_001311274.1:p.Ala438Gly, NP_001311274.1:p.Ala438Asp, NP_001311275.1:p.Ala577Gly, NP_001311275.1:p.Ala577Asp, NP_001271457.1:p.Ala361Gly, NP_001271457.1:p.Ala361Asp, NP_001311272.1:p.Ala517Gly, NP_001311272.1:p.Ala517Asp, NP_001271458.1:p.Ala361Gly, NP_001271458.1:p.Ala361Asp, XP_047290231.1:p.Ala563Gly, XP_047290231.1:p.Ala563Asp

                    10.

                    rs1475321573 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      16:3383340 (GRCh38)
                      16:3433340 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:3383339:G:
                      Gene:
                      ZSCAN32 (Varview), LOC105371059 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,frameshift_variant
                      HGVS:
                      NC_000016.10:g.3383340del, NC_000016.9:g.3433340del, NM_017810.4:c.970del, NM_017810.3:c.970del, NM_017810.2:c.970del, XM_017023371.3:c.1606del, XM_017023371.2:c.1606del, XM_017023371.1:c.1606del, NM_001324340.2:c.970del, NM_001324340.1:c.970del, NM_001284527.2:c.1606del, NM_001284527.1:c.1606del, NM_001324342.2:c.970del, NM_001324342.1:c.970del, NM_001324344.2:c.970del, NM_001324344.1:c.970del, NM_001324341.2:c.970del, NM_001324341.1:c.970del, NM_001324345.2:c.970del, NM_001324345.1:c.970del, NM_001324346.2:c.1387del, NM_001324346.1:c.1387del, NM_001284528.2:c.739del, NM_001284528.1:c.739del, NM_001324343.2:c.1207del, NM_001324343.1:c.1207del, NM_001284529.2:c.739del, NM_001284529.1:c.739del, XM_047434275.1:c.1345del, NP_060280.2:p.Val325fs, XP_016878860.1:p.Val537fs, NP_001311269.1:p.Val325fs, NP_001271456.1:p.Val537fs, NP_001311271.1:p.Val325fs, NP_001311273.1:p.Val325fs, NP_001311270.1:p.Val325fs, NP_001311274.1:p.Val325fs, NP_001311275.1:p.Val464fs, NP_001271457.1:p.Val248fs, NP_001311272.1:p.Val404fs, NP_001271458.1:p.Val248fs, XP_047290231.1:p.Val450fs

                      11.

                      rs1475087785 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        16:3383118 (GRCh38)
                        16:3433118 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:3383117:A:G
                        Gene:
                        ZSCAN32 (Varview), LOC105371059 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_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_000016.10:g.3383118A>G, NC_000016.9:g.3433118A>G, NM_017810.4:c.1192T>C, NM_017810.3:c.1192T>C, NM_017810.2:c.1192T>C, XM_017023371.3:c.1828T>C, XM_017023371.2:c.1828T>C, XM_017023371.1:c.1828T>C, NM_001324340.2:c.1192T>C, NM_001324340.1:c.1192T>C, NM_001284527.2:c.1828T>C, NM_001284527.1:c.1828T>C, NM_001324342.2:c.1192T>C, NM_001324342.1:c.1192T>C, NM_001324344.2:c.1192T>C, NM_001324344.1:c.1192T>C, NM_001324341.2:c.1192T>C, NM_001324341.1:c.1192T>C, NM_001324345.2:c.1192T>C, NM_001324345.1:c.1192T>C, NM_001324346.2:c.1609T>C, NM_001324346.1:c.1609T>C, NM_001284528.2:c.961T>C, NM_001284528.1:c.961T>C, NM_001324343.2:c.1429T>C, NM_001324343.1:c.1429T>C, NM_001284529.2:c.961T>C, NM_001284529.1:c.961T>C, XM_047434275.1:c.1567T>C, NP_060280.2:p.Cys398Arg, XP_016878860.1:p.Cys610Arg, NP_001311269.1:p.Cys398Arg, NP_001271456.1:p.Cys610Arg, NP_001311271.1:p.Cys398Arg, NP_001311273.1:p.Cys398Arg, NP_001311270.1:p.Cys398Arg, NP_001311274.1:p.Cys398Arg, NP_001311275.1:p.Cys537Arg, NP_001271457.1:p.Cys321Arg, NP_001311272.1:p.Cys477Arg, NP_001271458.1:p.Cys321Arg, XP_047290231.1:p.Cys523Arg

                        12.

                        rs1474117791 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          16:3384849 (GRCh38)
                          16:3434849 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:3384848:G:A
                          Gene:
                          ZSCAN32 (Varview), LOC105371059 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,stop_gained,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000011/3 (TOPMED)
                          A=0.000012/3 (GnomAD_exomes)
                          HGVS:
                          NC_000016.10:g.3384849G>A, NC_000016.9:g.3434849G>A, NM_017810.4:c.208C>T, NM_017810.3:c.208C>T, NM_017810.2:c.208C>T, XM_017023371.3:c.844C>T, XM_017023371.2:c.844C>T, XM_017023371.1:c.844C>T, NM_001324340.2:c.208C>T, NM_001324340.1:c.208C>T, NM_001284527.2:c.844C>T, NM_001284527.1:c.844C>T, NM_001324342.2:c.208C>T, NM_001324342.1:c.208C>T, NM_001324344.2:c.208C>T, NM_001324344.1:c.208C>T, NM_001324341.2:c.208C>T, NM_001324341.1:c.208C>T, NM_001324345.2:c.208C>T, NM_001324345.1:c.208C>T, NM_001324346.2:c.625C>T, NM_001324346.1:c.625C>T, NM_001284528.2:c.-24C>T, NM_001284528.1:c.-24C>T, NM_001324343.2:c.445C>T, NM_001324343.1:c.445C>T, NM_001284529.2:c.-24C>T, NM_001284529.1:c.-24C>T, XM_047434275.1:c.583C>T, NM_024340.1:c.*68C>T, NP_060280.2:p.Gln70Ter, XP_016878860.1:p.Gln282Ter, NP_001311269.1:p.Gln70Ter, NP_001271456.1:p.Gln282Ter, NP_001311271.1:p.Gln70Ter, NP_001311273.1:p.Gln70Ter, NP_001311270.1:p.Gln70Ter, NP_001311274.1:p.Gln70Ter, NP_001311275.1:p.Gln209Ter, NP_001311272.1:p.Gln149Ter, XP_047290231.1:p.Gln195Ter

                          13.

                          rs1474087720 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            16:3393727 (GRCh38)
                            16:3443727 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:3393726:T:A
                            Gene:
                            ZSCAN32 (Varview), LOC105371059 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,stop_gained,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000013/2 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1473891962 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              16:3397291 (GRCh38)
                              16:3447291 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:3397290:C:A,NC_000016.10:3397290:C:G
                              Gene:
                              ZSCAN32 (Varview), LOC105371059 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000016.10:g.3397291C>A, NC_000016.10:g.3397291C>G, NC_000016.9:g.3447291C>A, NC_000016.9:g.3447291C>G, NG_053015.1:g.1102C>A, NG_053015.1:g.1102C>G, NM_017810.4:c.-254G>T, NM_017810.4:c.-254G>C, NM_017810.3:c.-254G>T, NM_017810.3:c.-254G>C, NM_017810.2:c.-254G>T, NM_017810.2:c.-254G>C, XM_017023371.3:c.267G>T, XM_017023371.3:c.267G>C, XM_017023371.2:c.267G>T, XM_017023371.2:c.267G>C, XM_017023371.1:c.267G>T, XM_017023371.1:c.267G>C, NM_001324340.2:c.-420G>T, NM_001324340.2:c.-420G>C, NM_001324340.1:c.-420G>T, NM_001324340.1:c.-420G>C, NM_001284527.2:c.267G>T, NM_001284527.2:c.267G>C, NM_001284527.1:c.267G>T, NM_001284527.1:c.267G>C, NM_001324342.2:c.-325G>T, NM_001324342.2:c.-325G>C, NM_001324342.1:c.-325G>T, NM_001324342.1:c.-325G>C, NM_001324344.2:c.-254G>T, NM_001324344.2:c.-254G>C, NM_001324344.1:c.-254G>T, NM_001324344.1:c.-254G>C, NM_001324341.2:c.-204G>T, NM_001324341.2:c.-204G>C, NM_001324341.1:c.-204G>T, NM_001324341.1:c.-204G>C, NM_001324345.2:c.-159G>T, NM_001324345.2:c.-159G>C, NM_001324345.1:c.-159G>T, NM_001324345.1:c.-159G>C, NM_001324346.2:c.267G>T, NM_001324346.2:c.267G>C, NM_001324346.1:c.267G>T, NM_001324346.1:c.267G>C, NM_001284528.2:c.-216G>T, NM_001284528.2:c.-216G>C, NM_001284528.1:c.-216G>T, NM_001284528.1:c.-216G>C, XM_047434275.1:c.267G>T, XM_047434275.1:c.267G>C, XR_007064949.1:n.392C>A, XR_007064949.1:n.392C>G, NM_024340.1:c.264G>T, NM_024340.1:c.264G>C, XP_016878860.1:p.Leu89Phe, XP_016878860.1:p.Leu89Phe, NP_001271456.1:p.Leu89Phe, NP_001271456.1:p.Leu89Phe, NP_001311275.1:p.Leu89Phe, NP_001311275.1:p.Leu89Phe, XP_047290231.1:p.Leu89Phe, XP_047290231.1:p.Leu89Phe

                              15.

                              rs1473452663 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GGAACTG>- [Show Flanks]
                                Chromosome:
                                16:3383092 (GRCh38)
                                16:3433092 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:3383085:GAACTGGGAACTG:GAACTG
                                Gene:
                                ZSCAN32 (Varview), LOC105371059 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,frameshift_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                GAACTG=0./0 (ALFA)
                                -=0.000004/1 (GnomAD_exomes)
                                -=0.000019/5 (TOPMED)
                                HGVS:
                                NC_000016.10:g.3383092_3383098del, NC_000016.9:g.3433092_3433098del, NM_017810.4:c.1218_1224del, NM_017810.3:c.1218_1224del, NM_017810.2:c.1218_1224del, XM_017023371.3:c.1854_1860del, XM_017023371.2:c.1854_1860del, XM_017023371.1:c.1854_1860del, NM_001324340.2:c.1218_1224del, NM_001324340.1:c.1218_1224del, NM_001284527.2:c.1854_1860del, NM_001284527.1:c.1854_1860del, NM_001324342.2:c.1218_1224del, NM_001324342.1:c.1218_1224del, NM_001324344.2:c.1218_1224del, NM_001324344.1:c.1218_1224del, NM_001324341.2:c.1218_1224del, NM_001324341.1:c.1218_1224del, NM_001324345.2:c.1218_1224del, NM_001324345.1:c.1218_1224del, NM_001324346.2:c.1635_1641del, NM_001324346.1:c.1635_1641del, NM_001284528.2:c.987_993del, NM_001284528.1:c.987_993del, NM_001324343.2:c.1455_1461del, NM_001324343.1:c.1455_1461del, NM_001284529.2:c.987_993del, NM_001284529.1:c.987_993del, XM_047434275.1:c.1593_1599del, NP_060280.2:p.Gln407fs, XP_016878860.1:p.Gln619fs, NP_001311269.1:p.Gln407fs, NP_001271456.1:p.Gln619fs, NP_001311271.1:p.Gln407fs, NP_001311273.1:p.Gln407fs, NP_001311270.1:p.Gln407fs, NP_001311274.1:p.Gln407fs, NP_001311275.1:p.Gln546fs, NP_001271457.1:p.Gln330fs, NP_001311272.1:p.Gln486fs, NP_001271458.1:p.Gln330fs, XP_047290231.1:p.Gln532fs

                                16.

                                rs1472181011 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  16:3397374 (GRCh38)
                                  16:3447374 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:3397373:A:G
                                  Gene:
                                  ZSCAN32 (Varview), LOC105371059 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000031/1 (ALFA)
                                  G=0.000006/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.3397374A>G, NC_000016.9:g.3447374A>G, NG_053015.1:g.1185A>G, NM_017810.4:c.-337T>C, NM_017810.3:c.-337T>C, NM_017810.2:c.-337T>C, XM_017023371.3:c.184T>C, XM_017023371.2:c.184T>C, XM_017023371.1:c.184T>C, NM_001324340.2:c.-503T>C, NM_001324340.1:c.-503T>C, NM_001284527.2:c.184T>C, NM_001284527.1:c.184T>C, NM_001324342.2:c.-408T>C, NM_001324342.1:c.-408T>C, NM_001324344.2:c.-337T>C, NM_001324344.1:c.-337T>C, NM_001324341.2:c.-287T>C, NM_001324341.1:c.-287T>C, NM_001324345.2:c.-242T>C, NM_001324345.1:c.-242T>C, NM_001324346.2:c.184T>C, NM_001324346.1:c.184T>C, NM_001284528.2:c.-299T>C, NM_001284528.1:c.-299T>C, XM_047434275.1:c.184T>C, XR_007064949.1:n.475A>G, NM_024340.1:c.181T>C, XP_016878860.1:p.Cys62Arg, NP_001271456.1:p.Cys62Arg, NP_001311275.1:p.Cys62Arg, XP_047290231.1:p.Cys62Arg

                                  17.

                                  rs1471247975 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    16:3384494 (GRCh38)
                                    16:3434494 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:3384493:T:G
                                    Gene:
                                    ZSCAN32 (Varview), LOC105371059 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.3384494T>G, NC_000016.9:g.3434494T>G, NM_017810.4:c.563A>C, NM_017810.3:c.563A>C, NM_017810.2:c.563A>C, XM_017023371.3:c.1199A>C, XM_017023371.2:c.1199A>C, XM_017023371.1:c.1199A>C, NM_001324340.2:c.563A>C, NM_001324340.1:c.563A>C, NM_001284527.2:c.1199A>C, NM_001284527.1:c.1199A>C, NM_001324342.2:c.563A>C, NM_001324342.1:c.563A>C, NM_001324344.2:c.563A>C, NM_001324344.1:c.563A>C, NM_001324341.2:c.563A>C, NM_001324341.1:c.563A>C, NM_001324345.2:c.563A>C, NM_001324345.1:c.563A>C, NM_001324346.2:c.980A>C, NM_001324346.1:c.980A>C, NM_001284528.2:c.332A>C, NM_001284528.1:c.332A>C, NM_001324343.2:c.800A>C, NM_001324343.1:c.800A>C, NM_001284529.2:c.332A>C, NM_001284529.1:c.332A>C, XM_047434275.1:c.938A>C, NM_024340.1:c.*423A>C, NP_060280.2:p.Lys188Thr, XP_016878860.1:p.Lys400Thr, NP_001311269.1:p.Lys188Thr, NP_001271456.1:p.Lys400Thr, NP_001311271.1:p.Lys188Thr, NP_001311273.1:p.Lys188Thr, NP_001311270.1:p.Lys188Thr, NP_001311274.1:p.Lys188Thr, NP_001311275.1:p.Lys327Thr, NP_001271457.1:p.Lys111Thr, NP_001311272.1:p.Lys267Thr, NP_001271458.1:p.Lys111Thr, XP_047290231.1:p.Lys313Thr

                                    18.

                                    rs1470098907 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      16:3383534 (GRCh38)
                                      16:3433534 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:3383533:T:G
                                      Gene:
                                      ZSCAN32 (Varview), LOC105371059 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.3383534T>G, NC_000016.9:g.3433534T>G, NM_017810.4:c.776A>C, NM_017810.3:c.776A>C, NM_017810.2:c.776A>C, XM_017023371.3:c.1412A>C, XM_017023371.2:c.1412A>C, XM_017023371.1:c.1412A>C, NM_001324340.2:c.776A>C, NM_001324340.1:c.776A>C, NM_001284527.2:c.1412A>C, NM_001284527.1:c.1412A>C, NM_001324342.2:c.776A>C, NM_001324342.1:c.776A>C, NM_001324344.2:c.776A>C, NM_001324344.1:c.776A>C, NM_001324341.2:c.776A>C, NM_001324341.1:c.776A>C, NM_001324345.2:c.776A>C, NM_001324345.1:c.776A>C, NM_001324346.2:c.1193A>C, NM_001324346.1:c.1193A>C, NM_001284528.2:c.545A>C, NM_001284528.1:c.545A>C, NM_001324343.2:c.1013A>C, NM_001324343.1:c.1013A>C, NM_001284529.2:c.545A>C, NM_001284529.1:c.545A>C, XM_047434275.1:c.1151A>C, NP_060280.2:p.Glu259Ala, XP_016878860.1:p.Glu471Ala, NP_001311269.1:p.Glu259Ala, NP_001271456.1:p.Glu471Ala, NP_001311271.1:p.Glu259Ala, NP_001311273.1:p.Glu259Ala, NP_001311270.1:p.Glu259Ala, NP_001311274.1:p.Glu259Ala, NP_001311275.1:p.Glu398Ala, NP_001271457.1:p.Glu182Ala, NP_001311272.1:p.Glu338Ala, NP_001271458.1:p.Glu182Ala, XP_047290231.1:p.Glu384Ala

                                      19.

                                      rs1466342565 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        16:3397518 (GRCh38)
                                        16:3447518 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:3397517:A:C
                                        Gene:
                                        ZSCAN32 (Varview), LOC105371059 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.3397518A>C, NC_000016.9:g.3447518A>C, NG_053015.1:g.1329A>C, NM_017810.4:c.-481T>G, NM_017810.3:c.-481T>G, NM_017810.2:c.-481T>G, XM_017023371.3:c.40T>G, XM_017023371.2:c.40T>G, XM_017023371.1:c.40T>G, NM_001324340.2:c.-647T>G, NM_001324340.1:c.-647T>G, NM_001284527.2:c.40T>G, NM_001284527.1:c.40T>G, NM_001324342.2:c.-552T>G, NM_001324342.1:c.-552T>G, NM_001324344.2:c.-481T>G, NM_001324344.1:c.-481T>G, NM_001324341.2:c.-431T>G, NM_001324341.1:c.-431T>G, NM_001324345.2:c.-386T>G, NM_001324345.1:c.-386T>G, NM_001324346.2:c.40T>G, NM_001324346.1:c.40T>G, NM_001284528.2:c.-443T>G, NM_001284528.1:c.-443T>G, XM_047434275.1:c.40T>G, XR_007064949.1:n.619A>C, NM_024340.1:c.37T>G, XP_016878860.1:p.Ser14Ala, NP_001271456.1:p.Ser14Ala, NP_001311275.1:p.Ser14Ala, XP_047290231.1:p.Ser14Ala

                                        20.

                                        rs1465426534 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          16:3383243 (GRCh38)
                                          16:3433243 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:3383242:A:C
                                          Gene:
                                          ZSCAN32 (Varview), LOC105371059 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.3383243A>C, NC_000016.9:g.3433243A>C, NM_017810.4:c.1067T>G, NM_017810.3:c.1067T>G, NM_017810.2:c.1067T>G, XM_017023371.3:c.1703T>G, XM_017023371.2:c.1703T>G, XM_017023371.1:c.1703T>G, NM_001324340.2:c.1067T>G, NM_001324340.1:c.1067T>G, NM_001284527.2:c.1703T>G, NM_001284527.1:c.1703T>G, NM_001324342.2:c.1067T>G, NM_001324342.1:c.1067T>G, NM_001324344.2:c.1067T>G, NM_001324344.1:c.1067T>G, NM_001324341.2:c.1067T>G, NM_001324341.1:c.1067T>G, NM_001324345.2:c.1067T>G, NM_001324345.1:c.1067T>G, NM_001324346.2:c.1484T>G, NM_001324346.1:c.1484T>G, NM_001284528.2:c.836T>G, NM_001284528.1:c.836T>G, NM_001324343.2:c.1304T>G, NM_001324343.1:c.1304T>G, NM_001284529.2:c.836T>G, NM_001284529.1:c.836T>G, XM_047434275.1:c.1442T>G, NP_060280.2:p.Leu356Arg, XP_016878860.1:p.Leu568Arg, NP_001311269.1:p.Leu356Arg, NP_001271456.1:p.Leu568Arg, NP_001311271.1:p.Leu356Arg, NP_001311273.1:p.Leu356Arg, NP_001311270.1:p.Leu356Arg, NP_001311274.1:p.Leu356Arg, NP_001311275.1:p.Leu495Arg, NP_001271457.1:p.Leu279Arg, NP_001311272.1:p.Leu435Arg, NP_001271458.1:p.Leu279Arg, XP_047290231.1:p.Leu481Arg

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