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Items: 1 to 20 of 607

1.

rs1488433537 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    1:26361796 (GRCh38)
    1:26688287 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26361795:T:G
    Gene:
    ZNF683 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.26361796T>G, NC_000001.10:g.26688287T>G, XM_006710555.4:c.1457A>C, XM_006710555.3:c.1457A>C, XM_006710555.2:c.1457A>C, XM_006710555.1:c.1457A>C, XM_005245828.4:c.1454A>C, XM_005245828.3:c.1454A>C, XM_005245828.2:c.1454A>C, XM_005245828.1:c.1454A>C, XM_005245832.4:c.1430A>C, XM_005245832.3:c.1430A>C, XM_005245832.2:c.1430A>C, XM_005245832.1:c.1430A>C, XM_005245830.4:c.1430A>C, XM_005245830.3:c.1430A>C, XM_005245830.2:c.1430A>C, XM_005245830.1:c.1430A>C, XM_017000954.3:c.1457A>C, XM_017000954.2:c.1457A>C, XM_017000954.1:c.1457A>C, XM_017000957.3:c.1397A>C, XM_017000957.2:c.1397A>C, XM_017000957.1:c.1397A>C, XM_011541198.3:c.1430A>C, XM_011541198.2:c.1430A>C, XM_011541198.1:c.1430A>C, NM_173574.3:c.1370A>C, NM_173574.2:c.1370A>C, NM_001114759.3:c.1370A>C, NM_001114759.2:c.1370A>C, NM_001114759.1:c.1370A>C, XM_017000956.2:c.1454A>C, XM_017000956.1:c.1454A>C, NM_001307925.1:c.1430A>C, XM_047417136.1:c.761A>C, XP_006710618.1:p.Asp486Ala, XP_005245885.1:p.Asp485Ala, XP_005245889.1:p.Asp477Ala, XP_005245887.1:p.Asp477Ala, XP_016856443.1:p.Asp486Ala, XP_016856446.1:p.Asp466Ala, XP_011539500.1:p.Asp477Ala, NP_775845.2:p.Asp457Ala, NP_001108231.1:p.Asp457Ala, XP_016856445.1:p.Asp485Ala, NP_001294854.1:p.Asp477Ala, XP_047273092.1:p.Asp254Ala

    2.

    rs1487162745 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      1:26364853 (GRCh38)
      1:26691345 (GRCh37)
      Canonical SPDI:
      NC_000001.11:26364853:A:AA
      Gene:
      ZNF683 (Varview)
      Functional Consequence:
      frameshift_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.26364854dup, NC_000001.10:g.26691345dup, XM_006710555.4:c.719dup, XM_006710555.3:c.719dup, XM_006710555.2:c.719dup, XM_006710555.1:c.719dup, XM_005245828.4:c.716dup, XM_005245828.3:c.716dup, XM_005245828.2:c.716dup, XM_005245828.1:c.716dup, XM_005245832.4:c.692dup, XM_005245832.3:c.692dup, XM_005245832.2:c.692dup, XM_005245832.1:c.692dup, XM_005245830.4:c.692dup, XM_005245830.3:c.692dup, XM_005245830.2:c.692dup, XM_005245830.1:c.692dup, XM_017000954.3:c.719dup, XM_017000954.2:c.719dup, XM_017000954.1:c.719dup, XM_017000957.3:c.719dup, XM_017000957.2:c.719dup, XM_017000957.1:c.719dup, XM_011541198.3:c.692dup, XM_011541198.2:c.692dup, XM_011541198.1:c.692dup, NM_173574.3:c.692dup, NM_173574.2:c.692dup, NM_001114759.3:c.692dup, NM_001114759.2:c.692dup, NM_001114759.1:c.692dup, XM_017000956.2:c.716dup, XM_017000956.1:c.716dup, NM_001307925.1:c.692dup, XP_006710618.1:p.Met240fs, XP_005245885.1:p.Met239fs, XP_005245889.1:p.Met231fs, XP_005245887.1:p.Met231fs, XP_016856443.1:p.Met240fs, XP_016856446.1:p.Met240fs, XP_011539500.1:p.Met231fs, NP_775845.2:p.Met231fs, NP_001108231.1:p.Met231fs, XP_016856445.1:p.Met239fs, NP_001294854.1:p.Met231fs

      3.

      rs1479010149 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        1:26361825 (GRCh38)
        1:26688316 (GRCh37)
        Canonical SPDI:
        NC_000001.11:26361824:G:T
        Gene:
        ZNF683 (Varview)
        Functional Consequence:
        stop_gained,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.26361825G>T, NC_000001.10:g.26688316G>T, XM_006710555.4:c.1428C>A, XM_006710555.3:c.1428C>A, XM_006710555.2:c.1428C>A, XM_006710555.1:c.1428C>A, XM_005245828.4:c.1425C>A, XM_005245828.3:c.1425C>A, XM_005245828.2:c.1425C>A, XM_005245828.1:c.1425C>A, XM_005245832.4:c.1401C>A, XM_005245832.3:c.1401C>A, XM_005245832.2:c.1401C>A, XM_005245832.1:c.1401C>A, XM_005245830.4:c.1401C>A, XM_005245830.3:c.1401C>A, XM_005245830.2:c.1401C>A, XM_005245830.1:c.1401C>A, XM_017000954.3:c.1428C>A, XM_017000954.2:c.1428C>A, XM_017000954.1:c.1428C>A, XM_017000957.3:c.1368C>A, XM_017000957.2:c.1368C>A, XM_017000957.1:c.1368C>A, XM_011541198.3:c.1401C>A, XM_011541198.2:c.1401C>A, XM_011541198.1:c.1401C>A, NM_173574.3:c.1341C>A, NM_173574.2:c.1341C>A, NM_001114759.3:c.1341C>A, NM_001114759.2:c.1341C>A, NM_001114759.1:c.1341C>A, XM_017000956.2:c.1425C>A, XM_017000956.1:c.1425C>A, NM_001307925.1:c.1401C>A, XM_047417136.1:c.732C>A, XP_006710618.1:p.Cys476Ter, XP_005245885.1:p.Cys475Ter, XP_005245889.1:p.Cys467Ter, XP_005245887.1:p.Cys467Ter, XP_016856443.1:p.Cys476Ter, XP_016856446.1:p.Cys456Ter, XP_011539500.1:p.Cys467Ter, NP_775845.2:p.Cys447Ter, NP_001108231.1:p.Cys447Ter, XP_016856445.1:p.Cys475Ter, NP_001294854.1:p.Cys467Ter, XP_047273092.1:p.Cys244Ter

        4.

        rs1471651719 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:26365003 (GRCh38)
          1:26691494 (GRCh37)
          Canonical SPDI:
          NC_000001.11:26365002:G:A
          Gene:
          ZNF683 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000023/5 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.26365003G>A, NC_000001.10:g.26691494G>A, XM_006710555.4:c.570C>T, XM_006710555.3:c.570C>T, XM_006710555.2:c.570C>T, XM_006710555.1:c.570C>T, XM_005245828.4:c.567C>T, XM_005245828.3:c.567C>T, XM_005245828.2:c.567C>T, XM_005245828.1:c.567C>T, XM_005245832.4:c.543C>T, XM_005245832.3:c.543C>T, XM_005245832.2:c.543C>T, XM_005245832.1:c.543C>T, XM_005245830.4:c.543C>T, XM_005245830.3:c.543C>T, XM_005245830.2:c.543C>T, XM_005245830.1:c.543C>T, XM_017000954.3:c.570C>T, XM_017000954.2:c.570C>T, XM_017000954.1:c.570C>T, XM_017000957.3:c.570C>T, XM_017000957.2:c.570C>T, XM_017000957.1:c.570C>T, XM_011541198.3:c.543C>T, XM_011541198.2:c.543C>T, XM_011541198.1:c.543C>T, NM_173574.3:c.543C>T, NM_173574.2:c.543C>T, NM_001114759.3:c.543C>T, NM_001114759.2:c.543C>T, NM_001114759.1:c.543C>T, XM_017000956.2:c.567C>T, XM_017000956.1:c.567C>T, NM_001307925.1:c.543C>T

          5.

          rs1469403600 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:26367786 (GRCh38)
            1:26694277 (GRCh37)
            Canonical SPDI:
            NC_000001.11:26367785:G:A
            Gene:
            ZNF683 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,intron_variant
            HGVS:
            NC_000001.11:g.26367786G>A, NC_000001.10:g.26694277G>A, XM_006710555.4:c.153C>T, XM_006710555.3:c.153C>T, XM_006710555.2:c.153C>T, XM_006710555.1:c.153C>T, XM_005245828.4:c.150C>T, XM_005245828.3:c.150C>T, XM_005245828.2:c.150C>T, XM_005245828.1:c.150C>T, XM_005245832.4:c.126C>T, XM_005245832.3:c.126C>T, XM_005245832.2:c.126C>T, XM_005245832.1:c.126C>T, XM_005245830.4:c.126C>T, XM_005245830.3:c.126C>T, XM_005245830.2:c.126C>T, XM_005245830.1:c.126C>T, XM_017000954.3:c.153C>T, XM_017000954.2:c.153C>T, XM_017000954.1:c.153C>T, XM_017000957.3:c.153C>T, XM_017000957.2:c.153C>T, XM_017000957.1:c.153C>T, XM_011541198.3:c.126C>T, XM_011541198.2:c.126C>T, XM_011541198.1:c.126C>T, NM_173574.3:c.126C>T, NM_173574.2:c.126C>T, NM_001114759.3:c.126C>T, NM_001114759.2:c.126C>T, NM_001114759.1:c.126C>T, XM_017000956.2:c.150C>T, XM_017000956.1:c.150C>T, NM_001307925.1:c.126C>T

            6.

            rs1468631169 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              1:26367777 (GRCh38)
              1:26694268 (GRCh37)
              Canonical SPDI:
              NC_000001.11:26367776:T:C,NC_000001.11:26367776:T:G
              Gene:
              ZNF683 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              G=0.00007/1 (TOMMO)
              HGVS:
              NC_000001.11:g.26367777T>C, NC_000001.11:g.26367777T>G, NC_000001.10:g.26694268T>C, NC_000001.10:g.26694268T>G, XM_006710555.4:c.162A>G, XM_006710555.4:c.162A>C, XM_006710555.3:c.162A>G, XM_006710555.3:c.162A>C, XM_006710555.2:c.162A>G, XM_006710555.2:c.162A>C, XM_006710555.1:c.162A>G, XM_006710555.1:c.162A>C, XM_005245828.4:c.159A>G, XM_005245828.4:c.159A>C, XM_005245828.3:c.159A>G, XM_005245828.3:c.159A>C, XM_005245828.2:c.159A>G, XM_005245828.2:c.159A>C, XM_005245828.1:c.159A>G, XM_005245828.1:c.159A>C, XM_005245832.4:c.135A>G, XM_005245832.4:c.135A>C, XM_005245832.3:c.135A>G, XM_005245832.3:c.135A>C, XM_005245832.2:c.135A>G, XM_005245832.2:c.135A>C, XM_005245832.1:c.135A>G, XM_005245832.1:c.135A>C, XM_005245830.4:c.135A>G, XM_005245830.4:c.135A>C, XM_005245830.3:c.135A>G, XM_005245830.3:c.135A>C, XM_005245830.2:c.135A>G, XM_005245830.2:c.135A>C, XM_005245830.1:c.135A>G, XM_005245830.1:c.135A>C, XM_017000954.3:c.162A>G, XM_017000954.3:c.162A>C, XM_017000954.2:c.162A>G, XM_017000954.2:c.162A>C, XM_017000954.1:c.162A>G, XM_017000954.1:c.162A>C, XM_017000957.3:c.162A>G, XM_017000957.3:c.162A>C, XM_017000957.2:c.162A>G, XM_017000957.2:c.162A>C, XM_017000957.1:c.162A>G, XM_017000957.1:c.162A>C, XM_011541198.3:c.135A>G, XM_011541198.3:c.135A>C, XM_011541198.2:c.135A>G, XM_011541198.2:c.135A>C, XM_011541198.1:c.135A>G, XM_011541198.1:c.135A>C, NM_173574.3:c.135A>G, NM_173574.3:c.135A>C, NM_173574.2:c.135A>G, NM_173574.2:c.135A>C, NM_001114759.3:c.135A>G, NM_001114759.3:c.135A>C, NM_001114759.2:c.135A>G, NM_001114759.2:c.135A>C, NM_001114759.1:c.135A>G, NM_001114759.1:c.135A>C, XM_017000956.2:c.159A>G, XM_017000956.2:c.159A>C, XM_017000956.1:c.159A>G, XM_017000956.1:c.159A>C, NM_001307925.1:c.135A>G, NM_001307925.1:c.135A>C

              7.

              rs1468483928 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:26364934 (GRCh38)
                1:26691425 (GRCh37)
                Canonical SPDI:
                NC_000001.11:26364933:G:A
                Gene:
                ZNF683 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency
                MAF:
                A=0.000005/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.26364934G>A, NC_000001.10:g.26691425G>A, XM_006710555.4:c.639C>T, XM_006710555.3:c.639C>T, XM_006710555.2:c.639C>T, XM_006710555.1:c.639C>T, XM_005245828.4:c.636C>T, XM_005245828.3:c.636C>T, XM_005245828.2:c.636C>T, XM_005245828.1:c.636C>T, XM_005245832.4:c.612C>T, XM_005245832.3:c.612C>T, XM_005245832.2:c.612C>T, XM_005245832.1:c.612C>T, XM_005245830.4:c.612C>T, XM_005245830.3:c.612C>T, XM_005245830.2:c.612C>T, XM_005245830.1:c.612C>T, XM_017000954.3:c.639C>T, XM_017000954.2:c.639C>T, XM_017000954.1:c.639C>T, XM_017000957.3:c.639C>T, XM_017000957.2:c.639C>T, XM_017000957.1:c.639C>T, XM_011541198.3:c.612C>T, XM_011541198.2:c.612C>T, XM_011541198.1:c.612C>T, NM_173574.3:c.612C>T, NM_173574.2:c.612C>T, NM_001114759.3:c.612C>T, NM_001114759.2:c.612C>T, NM_001114759.1:c.612C>T, XM_017000956.2:c.636C>T, XM_017000956.1:c.636C>T, NM_001307925.1:c.612C>T

                8.

                rs1463403725 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:26365070 (GRCh38)
                  1:26691561 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:26365069:G:C
                  Gene:
                  ZNF683 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.26365070G>C, NC_000001.10:g.26691561G>C, XM_006710555.4:c.503C>G, XM_006710555.3:c.503C>G, XM_006710555.2:c.503C>G, XM_006710555.1:c.503C>G, XM_005245828.4:c.500C>G, XM_005245828.3:c.500C>G, XM_005245828.2:c.500C>G, XM_005245828.1:c.500C>G, XM_005245832.4:c.476C>G, XM_005245832.3:c.476C>G, XM_005245832.2:c.476C>G, XM_005245832.1:c.476C>G, XM_005245830.4:c.476C>G, XM_005245830.3:c.476C>G, XM_005245830.2:c.476C>G, XM_005245830.1:c.476C>G, XM_017000954.3:c.503C>G, XM_017000954.2:c.503C>G, XM_017000954.1:c.503C>G, XM_017000957.3:c.503C>G, XM_017000957.2:c.503C>G, XM_017000957.1:c.503C>G, XM_011541198.3:c.476C>G, XM_011541198.2:c.476C>G, XM_011541198.1:c.476C>G, NM_173574.3:c.476C>G, NM_173574.2:c.476C>G, NM_001114759.3:c.476C>G, NM_001114759.2:c.476C>G, NM_001114759.1:c.476C>G, XM_017000956.2:c.500C>G, XM_017000956.1:c.500C>G, NM_001307925.1:c.476C>G, XP_006710618.1:p.Pro168Arg, XP_005245885.1:p.Pro167Arg, XP_005245889.1:p.Pro159Arg, XP_005245887.1:p.Pro159Arg, XP_016856443.1:p.Pro168Arg, XP_016856446.1:p.Pro168Arg, XP_011539500.1:p.Pro159Arg, NP_775845.2:p.Pro159Arg, NP_001108231.1:p.Pro159Arg, XP_016856445.1:p.Pro167Arg, NP_001294854.1:p.Pro159Arg

                  9.

                  rs1463189532 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:26364709 (GRCh38)
                    1:26691200 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:26364708:G:A
                    Gene:
                    ZNF683 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.26364709G>A, NC_000001.10:g.26691200G>A, XM_006710555.4:c.864C>T, XM_006710555.3:c.864C>T, XM_006710555.2:c.864C>T, XM_006710555.1:c.864C>T, XM_005245828.4:c.861C>T, XM_005245828.3:c.861C>T, XM_005245828.2:c.861C>T, XM_005245828.1:c.861C>T, XM_005245832.4:c.837C>T, XM_005245832.3:c.837C>T, XM_005245832.2:c.837C>T, XM_005245832.1:c.837C>T, XM_005245830.4:c.837C>T, XM_005245830.3:c.837C>T, XM_005245830.2:c.837C>T, XM_005245830.1:c.837C>T, XM_017000954.3:c.864C>T, XM_017000954.2:c.864C>T, XM_017000954.1:c.864C>T, XM_017000957.3:c.864C>T, XM_017000957.2:c.864C>T, XM_017000957.1:c.864C>T, XM_011541198.3:c.837C>T, XM_011541198.2:c.837C>T, XM_011541198.1:c.837C>T, NM_173574.3:c.837C>T, NM_173574.2:c.837C>T, NM_001114759.3:c.837C>T, NM_001114759.2:c.837C>T, NM_001114759.1:c.837C>T, XM_017000956.2:c.861C>T, XM_017000956.1:c.861C>T, NM_001307925.1:c.837C>T, XM_047417136.1:c.168C>T

                    10.

                    rs1462884059 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:26365088 (GRCh38)
                      1:26691579 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:26365087:T:C
                      Gene:
                      ZNF683 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000001.11:g.26365088T>C, NC_000001.10:g.26691579T>C, XM_006710555.4:c.485A>G, XM_006710555.3:c.485A>G, XM_006710555.2:c.485A>G, XM_006710555.1:c.485A>G, XM_005245828.4:c.482A>G, XM_005245828.3:c.482A>G, XM_005245828.2:c.482A>G, XM_005245828.1:c.482A>G, XM_005245832.4:c.458A>G, XM_005245832.3:c.458A>G, XM_005245832.2:c.458A>G, XM_005245832.1:c.458A>G, XM_005245830.4:c.458A>G, XM_005245830.3:c.458A>G, XM_005245830.2:c.458A>G, XM_005245830.1:c.458A>G, XM_017000954.3:c.485A>G, XM_017000954.2:c.485A>G, XM_017000954.1:c.485A>G, XM_017000957.3:c.485A>G, XM_017000957.2:c.485A>G, XM_017000957.1:c.485A>G, XM_011541198.3:c.458A>G, XM_011541198.2:c.458A>G, XM_011541198.1:c.458A>G, NM_173574.3:c.458A>G, NM_173574.2:c.458A>G, NM_001114759.3:c.458A>G, NM_001114759.2:c.458A>G, NM_001114759.1:c.458A>G, XM_017000956.2:c.482A>G, XM_017000956.1:c.482A>G, NM_001307925.1:c.458A>G, XP_006710618.1:p.His162Arg, XP_005245885.1:p.His161Arg, XP_005245889.1:p.His153Arg, XP_005245887.1:p.His153Arg, XP_016856443.1:p.His162Arg, XP_016856446.1:p.His162Arg, XP_011539500.1:p.His153Arg, NP_775845.2:p.His153Arg, NP_001108231.1:p.His153Arg, XP_016856445.1:p.His161Arg, NP_001294854.1:p.His153Arg

                      11.

                      rs1461983376 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:26364960 (GRCh38)
                        1:26691451 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:26364959:A:G
                        Gene:
                        ZNF683 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.26364960A>G, NC_000001.10:g.26691451A>G, XM_006710555.4:c.613T>C, XM_006710555.3:c.613T>C, XM_006710555.2:c.613T>C, XM_006710555.1:c.613T>C, XM_005245828.4:c.610T>C, XM_005245828.3:c.610T>C, XM_005245828.2:c.610T>C, XM_005245828.1:c.610T>C, XM_005245832.4:c.586T>C, XM_005245832.3:c.586T>C, XM_005245832.2:c.586T>C, XM_005245832.1:c.586T>C, XM_005245830.4:c.586T>C, XM_005245830.3:c.586T>C, XM_005245830.2:c.586T>C, XM_005245830.1:c.586T>C, XM_017000954.3:c.613T>C, XM_017000954.2:c.613T>C, XM_017000954.1:c.613T>C, XM_017000957.3:c.613T>C, XM_017000957.2:c.613T>C, XM_017000957.1:c.613T>C, XM_011541198.3:c.586T>C, XM_011541198.2:c.586T>C, XM_011541198.1:c.586T>C, NM_173574.3:c.586T>C, NM_173574.2:c.586T>C, NM_001114759.3:c.586T>C, NM_001114759.2:c.586T>C, NM_001114759.1:c.586T>C, XM_017000956.2:c.610T>C, XM_017000956.1:c.610T>C, NM_001307925.1:c.586T>C, XP_006710618.1:p.Tyr205His, XP_005245885.1:p.Tyr204His, XP_005245889.1:p.Tyr196His, XP_005245887.1:p.Tyr196His, XP_016856443.1:p.Tyr205His, XP_016856446.1:p.Tyr205His, XP_011539500.1:p.Tyr196His, NP_775845.2:p.Tyr196His, NP_001108231.1:p.Tyr196His, XP_016856445.1:p.Tyr204His, NP_001294854.1:p.Tyr196His

                        12.

                        rs1459545187 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:26361667 (GRCh38)
                          1:26688158 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:26361666:T:C
                          Gene:
                          ZNF683 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.26361667T>C, NC_000001.10:g.26688158T>C, XM_006710555.4:c.1586A>G, XM_006710555.3:c.1586A>G, XM_006710555.2:c.1586A>G, XM_006710555.1:c.1586A>G, XM_005245828.4:c.1583A>G, XM_005245828.3:c.1583A>G, XM_005245828.2:c.1583A>G, XM_005245828.1:c.1583A>G, XM_005245832.4:c.1559A>G, XM_005245832.3:c.1559A>G, XM_005245832.2:c.1559A>G, XM_005245832.1:c.1559A>G, XM_005245830.4:c.1559A>G, XM_005245830.3:c.1559A>G, XM_005245830.2:c.1559A>G, XM_005245830.1:c.1559A>G, XM_017000954.3:c.1586A>G, XM_017000954.2:c.1586A>G, XM_017000954.1:c.1586A>G, XM_017000957.3:c.1526A>G, XM_017000957.2:c.1526A>G, XM_017000957.1:c.1526A>G, XM_011541198.3:c.1559A>G, XM_011541198.2:c.1559A>G, XM_011541198.1:c.1559A>G, NM_173574.3:c.1499A>G, NM_173574.2:c.1499A>G, NM_001114759.3:c.1499A>G, NM_001114759.2:c.1499A>G, NM_001114759.1:c.1499A>G, XM_017000956.2:c.1583A>G, XM_017000956.1:c.1583A>G, NM_001307925.1:c.1559A>G, XM_047417136.1:c.890A>G, XP_006710618.1:p.Gln529Arg, XP_005245885.1:p.Gln528Arg, XP_005245889.1:p.Gln520Arg, XP_005245887.1:p.Gln520Arg, XP_016856443.1:p.Gln529Arg, XP_016856446.1:p.Gln509Arg, XP_011539500.1:p.Gln520Arg, NP_775845.2:p.Gln500Arg, NP_001108231.1:p.Gln500Arg, XP_016856445.1:p.Gln528Arg, NP_001294854.1:p.Gln520Arg, XP_047273092.1:p.Gln297Arg

                          13.

                          rs1459302726 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:26361660 (GRCh38)
                            1:26688151 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:26361659:C:T
                            Gene:
                            ZNF683 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000001.11:g.26361660C>T, NC_000001.10:g.26688151C>T, XM_006710555.4:c.1593G>A, XM_006710555.3:c.1593G>A, XM_006710555.2:c.1593G>A, XM_006710555.1:c.1593G>A, XM_005245828.4:c.1590G>A, XM_005245828.3:c.1590G>A, XM_005245828.2:c.1590G>A, XM_005245828.1:c.1590G>A, XM_005245832.4:c.1566G>A, XM_005245832.3:c.1566G>A, XM_005245832.2:c.1566G>A, XM_005245832.1:c.1566G>A, XM_005245830.4:c.1566G>A, XM_005245830.3:c.1566G>A, XM_005245830.2:c.1566G>A, XM_005245830.1:c.1566G>A, XM_017000954.3:c.1593G>A, XM_017000954.2:c.1593G>A, XM_017000954.1:c.1593G>A, XM_017000957.3:c.1533G>A, XM_017000957.2:c.1533G>A, XM_017000957.1:c.1533G>A, XM_011541198.3:c.1566G>A, XM_011541198.2:c.1566G>A, XM_011541198.1:c.1566G>A, NM_173574.3:c.1506G>A, NM_173574.2:c.1506G>A, NM_001114759.3:c.1506G>A, NM_001114759.2:c.1506G>A, NM_001114759.1:c.1506G>A, XM_017000956.2:c.1590G>A, XM_017000956.1:c.1590G>A, NM_001307925.1:c.1566G>A, XM_047417136.1:c.897G>A

                            14.

                            rs1458221539 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              1:26361940 (GRCh38)
                              1:26688431 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:26361939:C:G
                              Gene:
                              ZNF683 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000028/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.26361940C>G, NC_000001.10:g.26688431C>G, XM_006710555.4:c.1313G>C, XM_006710555.3:c.1313G>C, XM_006710555.2:c.1313G>C, XM_006710555.1:c.1313G>C, XM_005245828.4:c.1310G>C, XM_005245828.3:c.1310G>C, XM_005245828.2:c.1310G>C, XM_005245828.1:c.1310G>C, XM_005245832.4:c.1286G>C, XM_005245832.3:c.1286G>C, XM_005245832.2:c.1286G>C, XM_005245832.1:c.1286G>C, XM_005245830.4:c.1286G>C, XM_005245830.3:c.1286G>C, XM_005245830.2:c.1286G>C, XM_005245830.1:c.1286G>C, XM_017000954.3:c.1313G>C, XM_017000954.2:c.1313G>C, XM_017000954.1:c.1313G>C, XM_017000957.3:c.1253G>C, XM_017000957.2:c.1253G>C, XM_017000957.1:c.1253G>C, XM_011541198.3:c.1286G>C, XM_011541198.2:c.1286G>C, XM_011541198.1:c.1286G>C, NM_173574.3:c.1226G>C, NM_173574.2:c.1226G>C, NM_001114759.3:c.1226G>C, NM_001114759.2:c.1226G>C, NM_001114759.1:c.1226G>C, XM_017000956.2:c.1310G>C, XM_017000956.1:c.1310G>C, NM_001307925.1:c.1286G>C, XM_047417136.1:c.617G>C, XP_006710618.1:p.Ser438Thr, XP_005245885.1:p.Ser437Thr, XP_005245889.1:p.Ser429Thr, XP_005245887.1:p.Ser429Thr, XP_016856443.1:p.Ser438Thr, XP_016856446.1:p.Ser418Thr, XP_011539500.1:p.Ser429Thr, NP_775845.2:p.Ser409Thr, NP_001108231.1:p.Ser409Thr, XP_016856445.1:p.Ser437Thr, NP_001294854.1:p.Ser429Thr, XP_047273092.1:p.Ser206Thr

                              15.

                              rs1457833636 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                1:26364644 (GRCh38)
                                1:26691135 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:26364643:C:G
                                Gene:
                                ZNF683 (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)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.26364644C>G, NC_000001.10:g.26691135C>G, XM_006710555.4:c.929G>C, XM_006710555.3:c.929G>C, XM_006710555.2:c.929G>C, XM_006710555.1:c.929G>C, XM_005245828.4:c.926G>C, XM_005245828.3:c.926G>C, XM_005245828.2:c.926G>C, XM_005245828.1:c.926G>C, XM_005245832.4:c.902G>C, XM_005245832.3:c.902G>C, XM_005245832.2:c.902G>C, XM_005245832.1:c.902G>C, XM_005245830.4:c.902G>C, XM_005245830.3:c.902G>C, XM_005245830.2:c.902G>C, XM_005245830.1:c.902G>C, XM_017000954.3:c.929G>C, XM_017000954.2:c.929G>C, XM_017000954.1:c.929G>C, XM_017000957.3:c.929G>C, XM_017000957.2:c.929G>C, XM_017000957.1:c.929G>C, XM_011541198.3:c.902G>C, XM_011541198.2:c.902G>C, XM_011541198.1:c.902G>C, NM_173574.3:c.902G>C, NM_173574.2:c.902G>C, NM_001114759.3:c.902G>C, NM_001114759.2:c.902G>C, NM_001114759.1:c.902G>C, XM_017000956.2:c.926G>C, XM_017000956.1:c.926G>C, NM_001307925.1:c.902G>C, XM_047417136.1:c.233G>C, XP_006710618.1:p.Ser310Thr, XP_005245885.1:p.Ser309Thr, XP_005245889.1:p.Ser301Thr, XP_005245887.1:p.Ser301Thr, XP_016856443.1:p.Ser310Thr, XP_016856446.1:p.Ser310Thr, XP_011539500.1:p.Ser301Thr, NP_775845.2:p.Ser301Thr, NP_001108231.1:p.Ser301Thr, XP_016856445.1:p.Ser309Thr, NP_001294854.1:p.Ser301Thr, XP_047273092.1:p.Ser78Thr

                                16.

                                rs1457665090 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:26361893 (GRCh38)
                                  1:26688384 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:26361892:G:C
                                  Gene:
                                  ZNF683 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.26361893G>C, NC_000001.10:g.26688384G>C, XM_006710555.4:c.1360C>G, XM_006710555.3:c.1360C>G, XM_006710555.2:c.1360C>G, XM_006710555.1:c.1360C>G, XM_005245828.4:c.1357C>G, XM_005245828.3:c.1357C>G, XM_005245828.2:c.1357C>G, XM_005245828.1:c.1357C>G, XM_005245832.4:c.1333C>G, XM_005245832.3:c.1333C>G, XM_005245832.2:c.1333C>G, XM_005245832.1:c.1333C>G, XM_005245830.4:c.1333C>G, XM_005245830.3:c.1333C>G, XM_005245830.2:c.1333C>G, XM_005245830.1:c.1333C>G, XM_017000954.3:c.1360C>G, XM_017000954.2:c.1360C>G, XM_017000954.1:c.1360C>G, XM_017000957.3:c.1300C>G, XM_017000957.2:c.1300C>G, XM_017000957.1:c.1300C>G, XM_011541198.3:c.1333C>G, XM_011541198.2:c.1333C>G, XM_011541198.1:c.1333C>G, NM_173574.3:c.1273C>G, NM_173574.2:c.1273C>G, NM_001114759.3:c.1273C>G, NM_001114759.2:c.1273C>G, NM_001114759.1:c.1273C>G, XM_017000956.2:c.1357C>G, XM_017000956.1:c.1357C>G, NM_001307925.1:c.1333C>G, XM_047417136.1:c.664C>G, XP_006710618.1:p.His454Asp, XP_005245885.1:p.His453Asp, XP_005245889.1:p.His445Asp, XP_005245887.1:p.His445Asp, XP_016856443.1:p.His454Asp, XP_016856446.1:p.His434Asp, XP_011539500.1:p.His445Asp, NP_775845.2:p.His425Asp, NP_001108231.1:p.His425Asp, XP_016856445.1:p.His453Asp, NP_001294854.1:p.His445Asp, XP_047273092.1:p.His222Asp

                                  17.

                                  rs1456238763 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:26364628 (GRCh38)
                                    1:26691119 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:26364627:G:A
                                    Gene:
                                    ZNF683 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.26364628G>A, NC_000001.10:g.26691119G>A, XM_006710555.4:c.945C>T, XM_006710555.3:c.945C>T, XM_006710555.2:c.945C>T, XM_006710555.1:c.945C>T, XM_005245828.4:c.942C>T, XM_005245828.3:c.942C>T, XM_005245828.2:c.942C>T, XM_005245828.1:c.942C>T, XM_005245832.4:c.918C>T, XM_005245832.3:c.918C>T, XM_005245832.2:c.918C>T, XM_005245832.1:c.918C>T, XM_005245830.4:c.918C>T, XM_005245830.3:c.918C>T, XM_005245830.2:c.918C>T, XM_005245830.1:c.918C>T, XM_017000954.3:c.945C>T, XM_017000954.2:c.945C>T, XM_017000954.1:c.945C>T, XM_017000957.3:c.945C>T, XM_017000957.2:c.945C>T, XM_017000957.1:c.945C>T, XM_011541198.3:c.918C>T, XM_011541198.2:c.918C>T, XM_011541198.1:c.918C>T, NM_173574.3:c.918C>T, NM_173574.2:c.918C>T, NM_001114759.3:c.918C>T, NM_001114759.2:c.918C>T, NM_001114759.1:c.918C>T, XM_017000956.2:c.942C>T, XM_017000956.1:c.942C>T, NM_001307925.1:c.918C>T, XM_047417136.1:c.249C>T

                                    18.

                                    rs1455775875 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:26365211 (GRCh38)
                                      1:26691702 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:26365210:C:T
                                      Gene:
                                      ZNF683 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000009/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.26365211C>T, NC_000001.10:g.26691702C>T, XM_006710555.4:c.362G>A, XM_006710555.3:c.362G>A, XM_006710555.2:c.362G>A, XM_006710555.1:c.362G>A, XM_005245828.4:c.359G>A, XM_005245828.3:c.359G>A, XM_005245828.2:c.359G>A, XM_005245828.1:c.359G>A, XM_005245832.4:c.335G>A, XM_005245832.3:c.335G>A, XM_005245832.2:c.335G>A, XM_005245832.1:c.335G>A, XM_005245830.4:c.335G>A, XM_005245830.3:c.335G>A, XM_005245830.2:c.335G>A, XM_005245830.1:c.335G>A, XM_017000954.3:c.362G>A, XM_017000954.2:c.362G>A, XM_017000954.1:c.362G>A, XM_017000957.3:c.362G>A, XM_017000957.2:c.362G>A, XM_017000957.1:c.362G>A, XM_011541198.3:c.335G>A, XM_011541198.2:c.335G>A, XM_011541198.1:c.335G>A, NM_173574.3:c.335G>A, NM_173574.2:c.335G>A, NM_001114759.3:c.335G>A, NM_001114759.2:c.335G>A, NM_001114759.1:c.335G>A, XM_017000956.2:c.359G>A, XM_017000956.1:c.359G>A, NM_001307925.1:c.335G>A, XP_006710618.1:p.Gly121Glu, XP_005245885.1:p.Gly120Glu, XP_005245889.1:p.Gly112Glu, XP_005245887.1:p.Gly112Glu, XP_016856443.1:p.Gly121Glu, XP_016856446.1:p.Gly121Glu, XP_011539500.1:p.Gly112Glu, NP_775845.2:p.Gly112Glu, NP_001108231.1:p.Gly112Glu, XP_016856445.1:p.Gly120Glu, NP_001294854.1:p.Gly112Glu

                                      19.

                                      rs1455092325 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:26364944 (GRCh38)
                                        1:26691435 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:26364943:G:A
                                        Gene:
                                        ZNF683 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        HGVS:
                                        NC_000001.11:g.26364944G>A, NC_000001.10:g.26691435G>A, XM_006710555.4:c.629C>T, XM_006710555.3:c.629C>T, XM_006710555.2:c.629C>T, XM_006710555.1:c.629C>T, XM_005245828.4:c.626C>T, XM_005245828.3:c.626C>T, XM_005245828.2:c.626C>T, XM_005245828.1:c.626C>T, XM_005245832.4:c.602C>T, XM_005245832.3:c.602C>T, XM_005245832.2:c.602C>T, XM_005245832.1:c.602C>T, XM_005245830.4:c.602C>T, XM_005245830.3:c.602C>T, XM_005245830.2:c.602C>T, XM_005245830.1:c.602C>T, XM_017000954.3:c.629C>T, XM_017000954.2:c.629C>T, XM_017000954.1:c.629C>T, XM_017000957.3:c.629C>T, XM_017000957.2:c.629C>T, XM_017000957.1:c.629C>T, XM_011541198.3:c.602C>T, XM_011541198.2:c.602C>T, XM_011541198.1:c.602C>T, NM_173574.3:c.602C>T, NM_173574.2:c.602C>T, NM_001114759.3:c.602C>T, NM_001114759.2:c.602C>T, NM_001114759.1:c.602C>T, XM_017000956.2:c.626C>T, XM_017000956.1:c.626C>T, NM_001307925.1:c.602C>T, XP_006710618.1:p.Pro210Leu, XP_005245885.1:p.Pro209Leu, XP_005245889.1:p.Pro201Leu, XP_005245887.1:p.Pro201Leu, XP_016856443.1:p.Pro210Leu, XP_016856446.1:p.Pro210Leu, XP_011539500.1:p.Pro201Leu, NP_775845.2:p.Pro201Leu, NP_001108231.1:p.Pro201Leu, XP_016856445.1:p.Pro209Leu, NP_001294854.1:p.Pro201Leu

                                        20.

                                        rs1454591214 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          1:26364549 (GRCh38)
                                          1:26691040 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:26364548:G:A,NC_000001.11:26364548:G:T
                                          Gene:
                                          ZNF683 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,stop_gained
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.26364549G>A, NC_000001.11:g.26364549G>T, NC_000001.10:g.26691040G>A, NC_000001.10:g.26691040G>T, XM_006710555.4:c.1024C>T, XM_006710555.4:c.1024C>A, XM_006710555.3:c.1024C>T, XM_006710555.3:c.1024C>A, XM_006710555.2:c.1024C>T, XM_006710555.2:c.1024C>A, XM_006710555.1:c.1024C>T, XM_006710555.1:c.1024C>A, XM_005245828.4:c.1021C>T, XM_005245828.4:c.1021C>A, XM_005245828.3:c.1021C>T, XM_005245828.3:c.1021C>A, XM_005245828.2:c.1021C>T, XM_005245828.2:c.1021C>A, XM_005245828.1:c.1021C>T, XM_005245828.1:c.1021C>A, XM_005245832.4:c.997C>T, XM_005245832.4:c.997C>A, XM_005245832.3:c.997C>T, XM_005245832.3:c.997C>A, XM_005245832.2:c.997C>T, XM_005245832.2:c.997C>A, XM_005245832.1:c.997C>T, XM_005245832.1:c.997C>A, XM_005245830.4:c.997C>T, XM_005245830.4:c.997C>A, XM_005245830.3:c.997C>T, XM_005245830.3:c.997C>A, XM_005245830.2:c.997C>T, XM_005245830.2:c.997C>A, XM_005245830.1:c.997C>T, XM_005245830.1:c.997C>A, XM_017000954.3:c.1024C>T, XM_017000954.3:c.1024C>A, XM_017000954.2:c.1024C>T, XM_017000954.2:c.1024C>A, XM_017000954.1:c.1024C>T, XM_017000954.1:c.1024C>A, XM_017000957.3:c.1024C>T, XM_017000957.3:c.1024C>A, XM_017000957.2:c.1024C>T, XM_017000957.2:c.1024C>A, XM_017000957.1:c.1024C>T, XM_017000957.1:c.1024C>A, XM_011541198.3:c.997C>T, XM_011541198.3:c.997C>A, XM_011541198.2:c.997C>T, XM_011541198.2:c.997C>A, XM_011541198.1:c.997C>T, XM_011541198.1:c.997C>A, NM_173574.3:c.997C>T, NM_173574.3:c.997C>A, NM_173574.2:c.997C>T, NM_173574.2:c.997C>A, NM_001114759.3:c.997C>T, NM_001114759.3:c.997C>A, NM_001114759.2:c.997C>T, NM_001114759.2:c.997C>A, NM_001114759.1:c.997C>T, NM_001114759.1:c.997C>A, XM_017000956.2:c.1021C>T, XM_017000956.2:c.1021C>A, XM_017000956.1:c.1021C>T, XM_017000956.1:c.1021C>A, NM_001307925.1:c.997C>T, NM_001307925.1:c.997C>A, XM_047417136.1:c.328C>T, XM_047417136.1:c.328C>A, XP_006710618.1:p.Gln342Ter, XP_006710618.1:p.Gln342Lys, XP_005245885.1:p.Gln341Ter, XP_005245885.1:p.Gln341Lys, XP_005245889.1:p.Gln333Ter, XP_005245889.1:p.Gln333Lys, XP_005245887.1:p.Gln333Ter, XP_005245887.1:p.Gln333Lys, XP_016856443.1:p.Gln342Ter, XP_016856443.1:p.Gln342Lys, XP_016856446.1:p.Gln342Ter, XP_016856446.1:p.Gln342Lys, XP_011539500.1:p.Gln333Ter, XP_011539500.1:p.Gln333Lys, NP_775845.2:p.Gln333Ter, NP_775845.2:p.Gln333Lys, NP_001108231.1:p.Gln333Ter, NP_001108231.1:p.Gln333Lys, XP_016856445.1:p.Gln341Ter, XP_016856445.1:p.Gln341Lys, NP_001294854.1:p.Gln333Ter, NP_001294854.1:p.Gln333Lys, XP_047273092.1:p.Gln110Ter, XP_047273092.1:p.Gln110Lys

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