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Items: 1 to 20 of 198

1.

rs1490853447 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    4:182915026 (GRCh38)
    4:183836179 (GRCh37)
    Canonical SPDI:
    NC_000004.12:182915025:C:A
    Gene:
    DCTD (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000004.12:g.182915026C>A, NC_000004.11:g.183836179C>A, XM_005262778.4:c.174G>T, XM_005262778.3:c.174G>T, XM_005262778.2:c.174G>T, XM_005262778.1:c.174G>T, XM_017007820.3:c.141G>T, XM_017007820.2:c.141G>T, XM_017007820.1:c.141G>T, NM_001921.3:c.141G>T, NM_001921.2:c.141G>T, NM_001351743.2:c.141G>T, NM_001351743.1:c.141G>T, NM_001351744.2:c.141G>T, NM_001351744.1:c.141G>T, NM_001351747.2:c.141G>T, NM_001351747.1:c.141G>T, NM_001351745.2:c.141G>T, NM_001351745.1:c.141G>T, NM_001351748.2:c.141G>T, NM_001351748.1:c.141G>T, NM_001351750.2:c.141G>T, NM_001351750.1:c.141G>T, NM_001351753.2:c.141G>T, NM_001351753.1:c.141G>T, NM_001012732.2:c.174G>T, NM_001012732.1:c.174G>T, XP_005262835.1:p.Lys58Asn, XP_016863309.1:p.Lys47Asn, NP_001912.2:p.Lys47Asn, NP_001338672.1:p.Lys47Asn, NP_001338673.1:p.Lys47Asn, NP_001338676.1:p.Lys47Asn, NP_001338674.1:p.Lys47Asn, NP_001338677.1:p.Lys47Asn, NP_001338679.1:p.Lys47Asn, NP_001338682.1:p.Lys47Asn, NP_001012750.1:p.Lys58Asn

    2.

    rs1488036260 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:182915529 (GRCh38)
      4:183836682 (GRCh37)
      Canonical SPDI:
      NC_000004.12:182915528:C:T
      Gene:
      DCTD (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.182915529C>T, NC_000004.11:g.183836682C>T, XM_005262778.4:c.73G>A, XM_005262778.3:c.73G>A, XM_005262778.2:c.73G>A, XM_005262778.1:c.73G>A, XM_017007820.3:c.40G>A, XM_017007820.2:c.40G>A, XM_017007820.1:c.40G>A, NM_001921.3:c.40G>A, NM_001921.2:c.40G>A, NM_001351743.2:c.40G>A, NM_001351743.1:c.40G>A, NM_001351744.2:c.40G>A, NM_001351744.1:c.40G>A, NM_001351747.2:c.40G>A, NM_001351747.1:c.40G>A, NM_001351745.2:c.40G>A, NM_001351745.1:c.40G>A, NM_001351748.2:c.40G>A, NM_001351748.1:c.40G>A, NM_001351750.2:c.40G>A, NM_001351750.1:c.40G>A, NM_001351753.2:c.40G>A, NM_001351753.1:c.40G>A, NM_001012732.2:c.73G>A, NM_001012732.1:c.73G>A, XP_005262835.1:p.Glu25Lys, XP_016863309.1:p.Glu14Lys, NP_001912.2:p.Glu14Lys, NP_001338672.1:p.Glu14Lys, NP_001338673.1:p.Glu14Lys, NP_001338676.1:p.Glu14Lys, NP_001338674.1:p.Glu14Lys, NP_001338677.1:p.Glu14Lys, NP_001338679.1:p.Glu14Lys, NP_001338682.1:p.Glu14Lys, NP_001012750.1:p.Glu25Lys

      3.

      rs1484865886 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        4:182893101 (GRCh38)
        4:183814254 (GRCh37)
        Canonical SPDI:
        NC_000004.12:182893100:C:G
        Gene:
        DCTD (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=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000004.12:g.182893101C>G, NC_000004.11:g.183814254C>G, XM_005262778.4:c.421G>C, XM_005262778.3:c.421G>C, XM_005262778.2:c.421G>C, XM_005262778.1:c.421G>C, XM_017007820.3:c.388G>C, XM_017007820.2:c.388G>C, XM_017007820.1:c.388G>C, NM_001921.3:c.388G>C, NM_001921.2:c.388G>C, NM_001351743.2:c.388G>C, NM_001351743.1:c.388G>C, NM_001351744.2:c.388G>C, NM_001351744.1:c.388G>C, NM_001351747.2:c.388G>C, NM_001351747.1:c.388G>C, NM_001351745.2:c.388G>C, NM_001351745.1:c.388G>C, NM_001351748.2:c.388G>C, NM_001351748.1:c.388G>C, NM_001351750.2:c.388G>C, NM_001351750.1:c.388G>C, NM_001351753.2:c.388G>C, NM_001351753.1:c.388G>C, NM_001012732.2:c.421G>C, NM_001012732.1:c.421G>C, XP_005262835.1:p.Asp141His, XP_016863309.1:p.Asp130His, NP_001912.2:p.Asp130His, NP_001338672.1:p.Asp130His, NP_001338673.1:p.Asp130His, NP_001338676.1:p.Asp130His, NP_001338674.1:p.Asp130His, NP_001338677.1:p.Asp130His, NP_001338679.1:p.Asp130His, NP_001338682.1:p.Asp130His, NP_001012750.1:p.Asp141His

        4.

        rs1484370761 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          4:182891431 (GRCh38)
          4:183812584 (GRCh37)
          Canonical SPDI:
          NC_000004.12:182891430:T:C
          Gene:
          DCTD (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          C=0.000012/3 (GnomAD_exomes)
          C=0.000035/1 (TOMMO)
          HGVS:
          NC_000004.12:g.182891431T>C, NC_000004.11:g.183812584T>C, XM_005262778.4:c.538A>G, XM_005262778.3:c.538A>G, XM_005262778.2:c.538A>G, XM_005262778.1:c.538A>G, XM_017007820.3:c.505A>G, XM_017007820.2:c.505A>G, XM_017007820.1:c.505A>G, NM_001921.3:c.505A>G, NM_001921.2:c.505A>G, NM_001351743.2:c.505A>G, NM_001351743.1:c.505A>G, NM_001351744.2:c.505A>G, NM_001351744.1:c.505A>G, NM_001351747.2:c.505A>G, NM_001351747.1:c.505A>G, NM_001351745.2:c.505A>G, NM_001351745.1:c.505A>G, NM_001351748.2:c.505A>G, NM_001351748.1:c.505A>G, NM_001351750.2:c.505A>G, NM_001351750.1:c.505A>G, NM_001351753.2:c.505A>G, NM_001351753.1:c.505A>G, NM_001012732.2:c.538A>G, NM_001012732.1:c.538A>G, XP_005262835.1:p.Ile180Val, XP_016863309.1:p.Ile169Val, NP_001912.2:p.Ile169Val, NP_001338672.1:p.Ile169Val, NP_001338673.1:p.Ile169Val, NP_001338676.1:p.Ile169Val, NP_001338674.1:p.Ile169Val, NP_001338677.1:p.Ile169Val, NP_001338679.1:p.Ile169Val, NP_001338682.1:p.Ile169Val, NP_001012750.1:p.Ile180Val

          5.

          rs1478257399 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            4:182893059 (GRCh38)
            4:183814212 (GRCh37)
            Canonical SPDI:
            NC_000004.12:182893058:G:C
            Gene:
            DCTD (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.182893059G>C, NC_000004.11:g.183814212G>C, XM_005262778.4:c.463C>G, XM_005262778.3:c.463C>G, XM_005262778.2:c.463C>G, XM_005262778.1:c.463C>G, XM_017007820.3:c.430C>G, XM_017007820.2:c.430C>G, XM_017007820.1:c.430C>G, NM_001921.3:c.430C>G, NM_001921.2:c.430C>G, NM_001351743.2:c.430C>G, NM_001351743.1:c.430C>G, NM_001351744.2:c.430C>G, NM_001351744.1:c.430C>G, NM_001351747.2:c.430C>G, NM_001351747.1:c.430C>G, NM_001351745.2:c.430C>G, NM_001351745.1:c.430C>G, NM_001351748.2:c.430C>G, NM_001351748.1:c.430C>G, NM_001351750.2:c.430C>G, NM_001351750.1:c.430C>G, NM_001351753.2:c.430C>G, NM_001351753.1:c.430C>G, NM_001012732.2:c.463C>G, NM_001012732.1:c.463C>G, XP_005262835.1:p.Leu155Val, XP_016863309.1:p.Leu144Val, NP_001912.2:p.Leu144Val, NP_001338672.1:p.Leu144Val, NP_001338673.1:p.Leu144Val, NP_001338676.1:p.Leu144Val, NP_001338674.1:p.Leu144Val, NP_001338677.1:p.Leu144Val, NP_001338679.1:p.Leu144Val, NP_001338682.1:p.Leu144Val, NP_001012750.1:p.Leu155Val

            6.

            rs1478097014 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              4:182894491 (GRCh38)
              4:183815644 (GRCh37)
              Canonical SPDI:
              NC_000004.12:182894490:G:C
              Gene:
              DCTD (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000004.12:g.182894491G>C, NC_000004.11:g.183815644G>C, XM_005262778.4:c.392C>G, XM_005262778.3:c.392C>G, XM_005262778.2:c.392C>G, XM_005262778.1:c.392C>G, XM_017007820.3:c.359C>G, XM_017007820.2:c.359C>G, XM_017007820.1:c.359C>G, NM_001921.3:c.359C>G, NM_001921.2:c.359C>G, NM_001351743.2:c.359C>G, NM_001351743.1:c.359C>G, NM_001351744.2:c.359C>G, NM_001351744.1:c.359C>G, NM_001351747.2:c.359C>G, NM_001351747.1:c.359C>G, NM_001351745.2:c.359C>G, NM_001351745.1:c.359C>G, NM_001351748.2:c.359C>G, NM_001351748.1:c.359C>G, NM_001351750.2:c.359C>G, NM_001351750.1:c.359C>G, NM_001351753.2:c.359C>G, NM_001351753.1:c.359C>G, NM_001012732.2:c.392C>G, NM_001012732.1:c.392C>G, XP_005262835.1:p.Ala131Gly, XP_016863309.1:p.Ala120Gly, NP_001912.2:p.Ala120Gly, NP_001338672.1:p.Ala120Gly, NP_001338673.1:p.Ala120Gly, NP_001338676.1:p.Ala120Gly, NP_001338674.1:p.Ala120Gly, NP_001338677.1:p.Ala120Gly, NP_001338679.1:p.Ala120Gly, NP_001338682.1:p.Ala120Gly, NP_001012750.1:p.Ala131Gly

              7.

              rs1468371372 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:182894578 (GRCh38)
                4:183815731 (GRCh37)
                Canonical SPDI:
                NC_000004.12:182894577:A:G
                Gene:
                DCTD (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.182894578A>G, NC_000004.11:g.183815731A>G, XM_005262778.4:c.305T>C, XM_005262778.3:c.305T>C, XM_005262778.2:c.305T>C, XM_005262778.1:c.305T>C, XM_017007820.3:c.272T>C, XM_017007820.2:c.272T>C, XM_017007820.1:c.272T>C, NM_001921.3:c.272T>C, NM_001921.2:c.272T>C, NM_001351743.2:c.272T>C, NM_001351743.1:c.272T>C, NM_001351744.2:c.272T>C, NM_001351744.1:c.272T>C, NM_001351747.2:c.272T>C, NM_001351747.1:c.272T>C, NM_001351745.2:c.272T>C, NM_001351745.1:c.272T>C, NM_001351748.2:c.272T>C, NM_001351748.1:c.272T>C, NM_001351750.2:c.272T>C, NM_001351750.1:c.272T>C, NM_001351753.2:c.272T>C, NM_001351753.1:c.272T>C, NM_001012732.2:c.305T>C, NM_001012732.1:c.305T>C, XP_005262835.1:p.Met102Thr, XP_016863309.1:p.Met91Thr, NP_001912.2:p.Met91Thr, NP_001338672.1:p.Met91Thr, NP_001338673.1:p.Met91Thr, NP_001338676.1:p.Met91Thr, NP_001338674.1:p.Met91Thr, NP_001338677.1:p.Met91Thr, NP_001338679.1:p.Met91Thr, NP_001338682.1:p.Met91Thr, NP_001012750.1:p.Met102Thr

                8.

                rs1446155672 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  4:182914947 (GRCh38)
                  4:183836100 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:182914946:T:A
                  Gene:
                  DCTD (Varview)
                  Functional Consequence:
                  stop_gained,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.182914947T>A, NC_000004.11:g.183836100T>A, XM_005262778.4:c.253A>T, XM_005262778.3:c.253A>T, XM_005262778.2:c.253A>T, XM_005262778.1:c.253A>T, XM_017007820.3:c.220A>T, XM_017007820.2:c.220A>T, XM_017007820.1:c.220A>T, NM_001921.3:c.220A>T, NM_001921.2:c.220A>T, NM_001351743.2:c.220A>T, NM_001351743.1:c.220A>T, NM_001351744.2:c.220A>T, NM_001351744.1:c.220A>T, NM_001351747.2:c.220A>T, NM_001351747.1:c.220A>T, NM_001351745.2:c.220A>T, NM_001351745.1:c.220A>T, NM_001351748.2:c.220A>T, NM_001351748.1:c.220A>T, NM_001351750.2:c.220A>T, NM_001351750.1:c.220A>T, NM_001351753.2:c.220A>T, NM_001351753.1:c.220A>T, NM_001012732.2:c.253A>T, NM_001012732.1:c.253A>T, XP_005262835.1:p.Lys85Ter, XP_016863309.1:p.Lys74Ter, NP_001912.2:p.Lys74Ter, NP_001338672.1:p.Lys74Ter, NP_001338673.1:p.Lys74Ter, NP_001338676.1:p.Lys74Ter, NP_001338674.1:p.Lys74Ter, NP_001338677.1:p.Lys74Ter, NP_001338679.1:p.Lys74Ter, NP_001338682.1:p.Lys74Ter, NP_001012750.1:p.Lys85Ter

                  9.

                  rs1441944825 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:182915038 (GRCh38)
                    4:183836191 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:182915037:A:G
                    Gene:
                    DCTD (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1440313087 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      4:182914990 (GRCh38)
                      4:183836143 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:182914989:C:A,NC_000004.12:182914989:C:T
                      Gene:
                      DCTD (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.182914990C>A, NC_000004.12:g.182914990C>T, NC_000004.11:g.183836143C>A, NC_000004.11:g.183836143C>T, XM_005262778.4:c.210G>T, XM_005262778.4:c.210G>A, XM_005262778.3:c.210G>T, XM_005262778.3:c.210G>A, XM_005262778.2:c.210G>T, XM_005262778.2:c.210G>A, XM_005262778.1:c.210G>T, XM_005262778.1:c.210G>A, XM_017007820.3:c.177G>T, XM_017007820.3:c.177G>A, XM_017007820.2:c.177G>T, XM_017007820.2:c.177G>A, XM_017007820.1:c.177G>T, XM_017007820.1:c.177G>A, NM_001921.3:c.177G>T, NM_001921.3:c.177G>A, NM_001921.2:c.177G>T, NM_001921.2:c.177G>A, NM_001351743.2:c.177G>T, NM_001351743.2:c.177G>A, NM_001351743.1:c.177G>T, NM_001351743.1:c.177G>A, NM_001351744.2:c.177G>T, NM_001351744.2:c.177G>A, NM_001351744.1:c.177G>T, NM_001351744.1:c.177G>A, NM_001351747.2:c.177G>T, NM_001351747.2:c.177G>A, NM_001351747.1:c.177G>T, NM_001351747.1:c.177G>A, NM_001351745.2:c.177G>T, NM_001351745.2:c.177G>A, NM_001351745.1:c.177G>T, NM_001351745.1:c.177G>A, NM_001351748.2:c.177G>T, NM_001351748.2:c.177G>A, NM_001351748.1:c.177G>T, NM_001351748.1:c.177G>A, NM_001351750.2:c.177G>T, NM_001351750.2:c.177G>A, NM_001351750.1:c.177G>T, NM_001351750.1:c.177G>A, NM_001351753.2:c.177G>T, NM_001351753.2:c.177G>A, NM_001351753.1:c.177G>T, NM_001351753.1:c.177G>A, NM_001012732.2:c.210G>T, NM_001012732.2:c.210G>A, NM_001012732.1:c.210G>T, NM_001012732.1:c.210G>A

                      11.

                      rs1435253624 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        4:182894539 (GRCh38)
                        4:183815692 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:182894538:T:C,NC_000004.12:182894538:T:G
                        Gene:
                        DCTD (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000004.12:g.182894539T>C, NC_000004.12:g.182894539T>G, NC_000004.11:g.183815692T>C, NC_000004.11:g.183815692T>G, XM_005262778.4:c.344A>G, XM_005262778.4:c.344A>C, XM_005262778.3:c.344A>G, XM_005262778.3:c.344A>C, XM_005262778.2:c.344A>G, XM_005262778.2:c.344A>C, XM_005262778.1:c.344A>G, XM_005262778.1:c.344A>C, XM_017007820.3:c.311A>G, XM_017007820.3:c.311A>C, XM_017007820.2:c.311A>G, XM_017007820.2:c.311A>C, XM_017007820.1:c.311A>G, XM_017007820.1:c.311A>C, NM_001921.3:c.311A>G, NM_001921.3:c.311A>C, NM_001921.2:c.311A>G, NM_001921.2:c.311A>C, NM_001351743.2:c.311A>G, NM_001351743.2:c.311A>C, NM_001351743.1:c.311A>G, NM_001351743.1:c.311A>C, NM_001351744.2:c.311A>G, NM_001351744.2:c.311A>C, NM_001351744.1:c.311A>G, NM_001351744.1:c.311A>C, NM_001351747.2:c.311A>G, NM_001351747.2:c.311A>C, NM_001351747.1:c.311A>G, NM_001351747.1:c.311A>C, NM_001351745.2:c.311A>G, NM_001351745.2:c.311A>C, NM_001351745.1:c.311A>G, NM_001351745.1:c.311A>C, NM_001351748.2:c.311A>G, NM_001351748.2:c.311A>C, NM_001351748.1:c.311A>G, NM_001351748.1:c.311A>C, NM_001351750.2:c.311A>G, NM_001351750.2:c.311A>C, NM_001351750.1:c.311A>G, NM_001351750.1:c.311A>C, NM_001351753.2:c.311A>G, NM_001351753.2:c.311A>C, NM_001351753.1:c.311A>G, NM_001351753.1:c.311A>C, NM_001012732.2:c.344A>G, NM_001012732.2:c.344A>C, NM_001012732.1:c.344A>G, NM_001012732.1:c.344A>C, XP_005262835.1:p.Tyr115Cys, XP_005262835.1:p.Tyr115Ser, XP_016863309.1:p.Tyr104Cys, XP_016863309.1:p.Tyr104Ser, NP_001912.2:p.Tyr104Cys, NP_001912.2:p.Tyr104Ser, NP_001338672.1:p.Tyr104Cys, NP_001338672.1:p.Tyr104Ser, NP_001338673.1:p.Tyr104Cys, NP_001338673.1:p.Tyr104Ser, NP_001338676.1:p.Tyr104Cys, NP_001338676.1:p.Tyr104Ser, NP_001338674.1:p.Tyr104Cys, NP_001338674.1:p.Tyr104Ser, NP_001338677.1:p.Tyr104Cys, NP_001338677.1:p.Tyr104Ser, NP_001338679.1:p.Tyr104Cys, NP_001338679.1:p.Tyr104Ser, NP_001338682.1:p.Tyr104Cys, NP_001338682.1:p.Tyr104Ser, NP_001012750.1:p.Tyr115Cys, NP_001012750.1:p.Tyr115Ser

                        12.

                        rs1430721035 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:182915525 (GRCh38)
                          4:183836678 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:182915524:C:T
                          Gene:
                          DCTD (Varview)
                          Functional Consequence:
                          stop_gained,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.182915525C>T, NC_000004.11:g.183836678C>T, XM_005262778.4:c.77G>A, XM_005262778.3:c.77G>A, XM_005262778.2:c.77G>A, XM_005262778.1:c.77G>A, XM_017007820.3:c.44G>A, XM_017007820.2:c.44G>A, XM_017007820.1:c.44G>A, NM_001921.3:c.44G>A, NM_001921.2:c.44G>A, NM_001351743.2:c.44G>A, NM_001351743.1:c.44G>A, NM_001351744.2:c.44G>A, NM_001351744.1:c.44G>A, NM_001351747.2:c.44G>A, NM_001351747.1:c.44G>A, NM_001351745.2:c.44G>A, NM_001351745.1:c.44G>A, NM_001351748.2:c.44G>A, NM_001351748.1:c.44G>A, NM_001351750.2:c.44G>A, NM_001351750.1:c.44G>A, NM_001351753.2:c.44G>A, NM_001351753.1:c.44G>A, NM_001012732.2:c.77G>A, NM_001012732.1:c.77G>A, XP_005262835.1:p.Trp26Ter, XP_016863309.1:p.Trp15Ter, NP_001912.2:p.Trp15Ter, NP_001338672.1:p.Trp15Ter, NP_001338673.1:p.Trp15Ter, NP_001338676.1:p.Trp15Ter, NP_001338674.1:p.Trp15Ter, NP_001338677.1:p.Trp15Ter, NP_001338679.1:p.Trp15Ter, NP_001338682.1:p.Trp15Ter, NP_001012750.1:p.Trp26Ter

                          13.

                          rs1426658528 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:182894541 (GRCh38)
                            4:183815694 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:182894540:C:T
                            Gene:
                            DCTD (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.182894541C>T, NC_000004.11:g.183815694C>T, XM_005262778.4:c.342G>A, XM_005262778.3:c.342G>A, XM_005262778.2:c.342G>A, XM_005262778.1:c.342G>A, XM_017007820.3:c.309G>A, XM_017007820.2:c.309G>A, XM_017007820.1:c.309G>A, NM_001921.3:c.309G>A, NM_001921.2:c.309G>A, NM_001351743.2:c.309G>A, NM_001351743.1:c.309G>A, NM_001351744.2:c.309G>A, NM_001351744.1:c.309G>A, NM_001351747.2:c.309G>A, NM_001351747.1:c.309G>A, NM_001351745.2:c.309G>A, NM_001351745.1:c.309G>A, NM_001351748.2:c.309G>A, NM_001351748.1:c.309G>A, NM_001351750.2:c.309G>A, NM_001351750.1:c.309G>A, NM_001351753.2:c.309G>A, NM_001351753.1:c.309G>A, NM_001012732.2:c.342G>A, NM_001012732.1:c.342G>A, XP_005262835.1:p.Met114Ile, XP_016863309.1:p.Met103Ile, NP_001912.2:p.Met103Ile, NP_001338672.1:p.Met103Ile, NP_001338673.1:p.Met103Ile, NP_001338676.1:p.Met103Ile, NP_001338674.1:p.Met103Ile, NP_001338677.1:p.Met103Ile, NP_001338679.1:p.Met103Ile, NP_001338682.1:p.Met103Ile, NP_001012750.1:p.Met114Ile

                            14.

                            rs1415277775 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:182891473 (GRCh38)
                              4:183812626 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:182891472:A:G
                              Gene:
                              DCTD (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000004.12:g.182891473A>G, NC_000004.11:g.183812626A>G, XM_005262778.4:c.496T>C, XM_005262778.3:c.496T>C, XM_005262778.2:c.496T>C, XM_005262778.1:c.496T>C, XM_017007820.3:c.463T>C, XM_017007820.2:c.463T>C, XM_017007820.1:c.463T>C, NM_001921.3:c.463T>C, NM_001921.2:c.463T>C, NM_001351743.2:c.463T>C, NM_001351743.1:c.463T>C, NM_001351744.2:c.463T>C, NM_001351744.1:c.463T>C, NM_001351747.2:c.463T>C, NM_001351747.1:c.463T>C, NM_001351745.2:c.463T>C, NM_001351745.1:c.463T>C, NM_001351748.2:c.463T>C, NM_001351748.1:c.463T>C, NM_001351750.2:c.463T>C, NM_001351750.1:c.463T>C, NM_001351753.2:c.463T>C, NM_001351753.1:c.463T>C, NM_001012732.2:c.496T>C, NM_001012732.1:c.496T>C, XP_005262835.1:p.Phe166Leu, XP_016863309.1:p.Phe155Leu, NP_001912.2:p.Phe155Leu, NP_001338672.1:p.Phe155Leu, NP_001338673.1:p.Phe155Leu, NP_001338676.1:p.Phe155Leu, NP_001338674.1:p.Phe155Leu, NP_001338677.1:p.Phe155Leu, NP_001338679.1:p.Phe155Leu, NP_001338682.1:p.Phe155Leu, NP_001012750.1:p.Phe166Leu

                              15.

                              rs1414557564 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:182894542 (GRCh38)
                                4:183815695 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:182894541:A:G
                                Gene:
                                DCTD (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000004.12:g.182894542A>G, NC_000004.11:g.183815695A>G, XM_005262778.4:c.341T>C, XM_005262778.3:c.341T>C, XM_005262778.2:c.341T>C, XM_005262778.1:c.341T>C, XM_017007820.3:c.308T>C, XM_017007820.2:c.308T>C, XM_017007820.1:c.308T>C, NM_001921.3:c.308T>C, NM_001921.2:c.308T>C, NM_001351743.2:c.308T>C, NM_001351743.1:c.308T>C, NM_001351744.2:c.308T>C, NM_001351744.1:c.308T>C, NM_001351747.2:c.308T>C, NM_001351747.1:c.308T>C, NM_001351745.2:c.308T>C, NM_001351745.1:c.308T>C, NM_001351748.2:c.308T>C, NM_001351748.1:c.308T>C, NM_001351750.2:c.308T>C, NM_001351750.1:c.308T>C, NM_001351753.2:c.308T>C, NM_001351753.1:c.308T>C, NM_001012732.2:c.341T>C, NM_001012732.1:c.341T>C, XP_005262835.1:p.Met114Thr, XP_016863309.1:p.Met103Thr, NP_001912.2:p.Met103Thr, NP_001338672.1:p.Met103Thr, NP_001338673.1:p.Met103Thr, NP_001338676.1:p.Met103Thr, NP_001338674.1:p.Met103Thr, NP_001338677.1:p.Met103Thr, NP_001338679.1:p.Met103Thr, NP_001338682.1:p.Met103Thr, NP_001012750.1:p.Met114Thr

                                16.

                                rs1413581769 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TGATGGCATTCA>- [Show Flanks]
                                  Chromosome:
                                  4:182894579 (GRCh38)
                                  4:183815732 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:182894574:TTCATGATGGCATTCA:TTCA
                                  Gene:
                                  DCTD (Varview)
                                  Functional Consequence:
                                  inframe_deletion,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTCA=0./0 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.182894579_182894590del, NC_000004.11:g.183815732_183815743del, XM_005262778.4:c.297_308del, XM_005262778.3:c.297_308del, XM_005262778.2:c.297_308del, XM_005262778.1:c.297_308del, XM_017007820.3:c.264_275del, XM_017007820.2:c.264_275del, XM_017007820.1:c.264_275del, NM_001921.3:c.264_275del, NM_001921.2:c.264_275del, NM_001351743.2:c.264_275del, NM_001351743.1:c.264_275del, NM_001351744.2:c.264_275del, NM_001351744.1:c.264_275del, NM_001351747.2:c.264_275del, NM_001351747.1:c.264_275del, NM_001351745.2:c.264_275del, NM_001351745.1:c.264_275del, NM_001351748.2:c.264_275del, NM_001351748.1:c.264_275del, NM_001351750.2:c.264_275del, NM_001351750.1:c.264_275del, NM_001351753.2:c.264_275del, NM_001351753.1:c.264_275del, NM_001012732.2:c.297_308del, NM_001012732.1:c.297_308del, XP_005262835.1:p.Ala100_Asn103del, XP_016863309.1:p.Ala89_Asn92del, NP_001912.2:p.Ala89_Asn92del, NP_001338672.1:p.Ala89_Asn92del, NP_001338673.1:p.Ala89_Asn92del, NP_001338676.1:p.Ala89_Asn92del, NP_001338674.1:p.Ala89_Asn92del, NP_001338677.1:p.Ala89_Asn92del, NP_001338679.1:p.Ala89_Asn92del, NP_001338682.1:p.Ala89_Asn92del, NP_001012750.1:p.Ala100_Asn103del

                                  17.

                                  rs1401403033 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    4:182915505 (GRCh38)
                                    4:183836658 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:182915504:C:G,NC_000004.12:182915504:C:T
                                    Gene:
                                    DCTD (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000007/1 (GnomAD)
                                    G=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000004.12:g.182915505C>G, NC_000004.12:g.182915505C>T, NC_000004.11:g.183836658C>G, NC_000004.11:g.183836658C>T, XM_005262778.4:c.97G>C, XM_005262778.4:c.97G>A, XM_005262778.3:c.97G>C, XM_005262778.3:c.97G>A, XM_005262778.2:c.97G>C, XM_005262778.2:c.97G>A, XM_005262778.1:c.97G>C, XM_005262778.1:c.97G>A, XM_017007820.3:c.64G>C, XM_017007820.3:c.64G>A, XM_017007820.2:c.64G>C, XM_017007820.2:c.64G>A, XM_017007820.1:c.64G>C, XM_017007820.1:c.64G>A, NM_001921.3:c.64G>C, NM_001921.3:c.64G>A, NM_001921.2:c.64G>C, NM_001921.2:c.64G>A, NM_001351743.2:c.64G>C, NM_001351743.2:c.64G>A, NM_001351743.1:c.64G>C, NM_001351743.1:c.64G>A, NM_001351744.2:c.64G>C, NM_001351744.2:c.64G>A, NM_001351744.1:c.64G>C, NM_001351744.1:c.64G>A, NM_001351747.2:c.64G>C, NM_001351747.2:c.64G>A, NM_001351747.1:c.64G>C, NM_001351747.1:c.64G>A, NM_001351745.2:c.64G>C, NM_001351745.2:c.64G>A, NM_001351745.1:c.64G>C, NM_001351745.1:c.64G>A, NM_001351748.2:c.64G>C, NM_001351748.2:c.64G>A, NM_001351748.1:c.64G>C, NM_001351748.1:c.64G>A, NM_001351750.2:c.64G>C, NM_001351750.2:c.64G>A, NM_001351750.1:c.64G>C, NM_001351750.1:c.64G>A, NM_001351753.2:c.64G>C, NM_001351753.2:c.64G>A, NM_001351753.1:c.64G>C, NM_001351753.1:c.64G>A, NM_001012732.2:c.97G>C, NM_001012732.2:c.97G>A, NM_001012732.1:c.97G>C, NM_001012732.1:c.97G>A, XP_005262835.1:p.Val33Leu, XP_005262835.1:p.Val33Met, XP_016863309.1:p.Val22Leu, XP_016863309.1:p.Val22Met, NP_001912.2:p.Val22Leu, NP_001912.2:p.Val22Met, NP_001338672.1:p.Val22Leu, NP_001338672.1:p.Val22Met, NP_001338673.1:p.Val22Leu, NP_001338673.1:p.Val22Met, NP_001338676.1:p.Val22Leu, NP_001338676.1:p.Val22Met, NP_001338674.1:p.Val22Leu, NP_001338674.1:p.Val22Met, NP_001338677.1:p.Val22Leu, NP_001338677.1:p.Val22Met, NP_001338679.1:p.Val22Leu, NP_001338679.1:p.Val22Met, NP_001338682.1:p.Val22Leu, NP_001338682.1:p.Val22Met, NP_001012750.1:p.Val33Leu, NP_001012750.1:p.Val33Met

                                    18.

                                    rs1398556445 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:182894534 (GRCh38)
                                      4:183815687 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:182894533:C:T
                                      Gene:
                                      DCTD (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000029/4 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.182894534C>T, NC_000004.11:g.183815687C>T, XM_005262778.4:c.349G>A, XM_005262778.3:c.349G>A, XM_005262778.2:c.349G>A, XM_005262778.1:c.349G>A, XM_017007820.3:c.316G>A, XM_017007820.2:c.316G>A, XM_017007820.1:c.316G>A, NM_001921.3:c.316G>A, NM_001921.2:c.316G>A, NM_001351743.2:c.316G>A, NM_001351743.1:c.316G>A, NM_001351744.2:c.316G>A, NM_001351744.1:c.316G>A, NM_001351747.2:c.316G>A, NM_001351747.1:c.316G>A, NM_001351745.2:c.316G>A, NM_001351745.1:c.316G>A, NM_001351748.2:c.316G>A, NM_001351748.1:c.316G>A, NM_001351750.2:c.316G>A, NM_001351750.1:c.316G>A, NM_001351753.2:c.316G>A, NM_001351753.1:c.316G>A, NM_001012732.2:c.349G>A, NM_001012732.1:c.349G>A, XP_005262835.1:p.Ala117Thr, XP_016863309.1:p.Ala106Thr, NP_001912.2:p.Ala106Thr, NP_001338672.1:p.Ala106Thr, NP_001338673.1:p.Ala106Thr, NP_001338676.1:p.Ala106Thr, NP_001338674.1:p.Ala106Thr, NP_001338677.1:p.Ala106Thr, NP_001338679.1:p.Ala106Thr, NP_001338682.1:p.Ala106Thr, NP_001012750.1:p.Ala117Thr

                                      19.

                                      rs1398229856 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        4:182893105 (GRCh38)
                                        4:183814258 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:182893104:C:G,NC_000004.12:182893104:C:T
                                        Gene:
                                        DCTD (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0./0 (GnomAD)
                                        HGVS:
                                        NC_000004.12:g.182893105C>G, NC_000004.12:g.182893105C>T, NC_000004.11:g.183814258C>G, NC_000004.11:g.183814258C>T, XM_005262778.4:c.417G>C, XM_005262778.4:c.417G>A, XM_005262778.3:c.417G>C, XM_005262778.3:c.417G>A, XM_005262778.2:c.417G>C, XM_005262778.2:c.417G>A, XM_005262778.1:c.417G>C, XM_005262778.1:c.417G>A, XM_017007820.3:c.384G>C, XM_017007820.3:c.384G>A, XM_017007820.2:c.384G>C, XM_017007820.2:c.384G>A, XM_017007820.1:c.384G>C, XM_017007820.1:c.384G>A, NM_001921.3:c.384G>C, NM_001921.3:c.384G>A, NM_001921.2:c.384G>C, NM_001921.2:c.384G>A, NM_001351743.2:c.384G>C, NM_001351743.2:c.384G>A, NM_001351743.1:c.384G>C, NM_001351743.1:c.384G>A, NM_001351744.2:c.384G>C, NM_001351744.2:c.384G>A, NM_001351744.1:c.384G>C, NM_001351744.1:c.384G>A, NM_001351747.2:c.384G>C, NM_001351747.2:c.384G>A, NM_001351747.1:c.384G>C, NM_001351747.1:c.384G>A, NM_001351745.2:c.384G>C, NM_001351745.2:c.384G>A, NM_001351745.1:c.384G>C, NM_001351745.1:c.384G>A, NM_001351748.2:c.384G>C, NM_001351748.2:c.384G>A, NM_001351748.1:c.384G>C, NM_001351748.1:c.384G>A, NM_001351750.2:c.384G>C, NM_001351750.2:c.384G>A, NM_001351750.1:c.384G>C, NM_001351750.1:c.384G>A, NM_001351753.2:c.384G>C, NM_001351753.2:c.384G>A, NM_001351753.1:c.384G>C, NM_001351753.1:c.384G>A, NM_001012732.2:c.417G>C, NM_001012732.2:c.417G>A, NM_001012732.1:c.417G>C, NM_001012732.1:c.417G>A, XP_005262835.1:p.Met139Ile, XP_005262835.1:p.Met139Ile, XP_016863309.1:p.Met128Ile, XP_016863309.1:p.Met128Ile, NP_001912.2:p.Met128Ile, NP_001912.2:p.Met128Ile, NP_001338672.1:p.Met128Ile, NP_001338672.1:p.Met128Ile, NP_001338673.1:p.Met128Ile, NP_001338673.1:p.Met128Ile, NP_001338676.1:p.Met128Ile, NP_001338676.1:p.Met128Ile, NP_001338674.1:p.Met128Ile, NP_001338674.1:p.Met128Ile, NP_001338677.1:p.Met128Ile, NP_001338677.1:p.Met128Ile, NP_001338679.1:p.Met128Ile, NP_001338679.1:p.Met128Ile, NP_001338682.1:p.Met128Ile, NP_001338682.1:p.Met128Ile, NP_001012750.1:p.Met139Ile, NP_001012750.1:p.Met139Ile

                                        20.

                                        rs1389244986 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAG>- [Show Flanks]
                                          Chromosome:
                                          4:182915498 (GRCh38)
                                          4:183836651 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:182915494:AAGAAG:AAG
                                          Gene:
                                          DCTD (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000004.12:g.182915495AAG[1], NC_000004.11:g.183836648AAG[1], XM_005262778.4:c.102CTT[1], XM_005262778.3:c.102CTT[1], XM_005262778.2:c.102CTT[1], XM_005262778.1:c.102CTT[1], XM_017007820.3:c.69CTT[1], XM_017007820.2:c.69CTT[1], XM_017007820.1:c.69CTT[1], NM_001921.3:c.69CTT[1], NM_001921.2:c.69CTT[1], NM_001351743.2:c.69CTT[1], NM_001351743.1:c.69CTT[1], NM_001351744.2:c.69CTT[1], NM_001351744.1:c.69CTT[1], NM_001351747.2:c.69CTT[1], NM_001351747.1:c.69CTT[1], NM_001351745.2:c.69CTT[1], NM_001351745.1:c.69CTT[1], NM_001351748.2:c.69CTT[1], NM_001351748.1:c.69CTT[1], NM_001351750.2:c.69CTT[1], NM_001351750.1:c.69CTT[1], NM_001351753.2:c.69CTT[1], NM_001351753.1:c.69CTT[1], NM_001012732.2:c.102CTT[1], NM_001012732.1:c.102CTT[1], XP_005262835.1:p.Phe35del, XP_016863309.1:p.Phe24del, NP_001912.2:p.Phe24del, NP_001338672.1:p.Phe24del, NP_001338673.1:p.Phe24del, NP_001338676.1:p.Phe24del, NP_001338674.1:p.Phe24del, NP_001338677.1:p.Phe24del, NP_001338679.1:p.Phe24del, NP_001338682.1:p.Phe24del, NP_001012750.1:p.Phe35del

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