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Items: 1 to 20 of 275

1.

rs1482389957 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    1:26442820 (GRCh38)
    1:26769311 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26442819:A:T
    Gene:
    DHDDS (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:

    2.

    rs1479679523 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      1:26468997 (GRCh38)
      1:26795488 (GRCh37)
      Canonical SPDI:
      NC_000001.11:26468996:GGGG:GGG
      Gene:
      DHDDS (Varview), DHDDS-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGG=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.26469000del, NC_000001.10:g.26795491del, NG_029786.1:g.41719del, NM_024887.4:c.874del, NM_024887.3:c.874del, NM_205861.3:c.871del, NM_205861.2:c.871del, NM_001319959.2:c.592del, NM_001319959.1:c.592del, NM_001243564.2:c.769del, NM_001243564.1:c.769del, NM_001243565.2:c.754del, NM_001243565.1:c.754del, XM_047430849.1:c.874del, XM_047430853.1:c.871del, XM_047430851.1:c.874del, XM_047430856.1:c.871del, XM_047430859.1:c.772del, XM_047430850.1:c.874del, XM_047430863.1:c.769del, XM_047430854.1:c.871del, XM_047430852.1:c.874del, XM_047430857.1:c.871del, XM_047430861.1:c.772del, XM_047430864.1:c.769del, XM_047430862.1:c.772del, XM_047430865.1:c.769del, XM_047430860.1:c.772del, NP_079163.2:p.Asp292fs, NP_995583.1:p.Asp291fs, NP_001306888.1:p.Asp198fs, NP_001230493.1:p.Asp257fs, NP_001230494.1:p.Asp252fs, XP_047286805.1:p.Asp292fs, XP_047286809.1:p.Asp291fs, XP_047286807.1:p.Asp292fs, XP_047286812.1:p.Asp291fs, XP_047286815.1:p.Asp258fs, XP_047286806.1:p.Asp292fs, XP_047286819.1:p.Asp257fs, XP_047286810.1:p.Asp291fs, XP_047286808.1:p.Asp292fs, XP_047286813.1:p.Asp291fs, XP_047286817.1:p.Asp258fs, XP_047286820.1:p.Asp257fs, XP_047286818.1:p.Asp258fs, XP_047286821.1:p.Asp257fs, XP_047286816.1:p.Asp258fs

      3.

      rs1477363877 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:26432974 (GRCh38)
        1:26759465 (GRCh37)
        Canonical SPDI:
        NC_000001.11:26432973:C:G
        Gene:
        DHDDS (Varview), LOC124903883 (Varview)
        Functional Consequence:
        stop_gained,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000047/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.26432974C>G, NC_000001.10:g.26759465C>G, NG_029786.1:g.5693C>G, NM_024887.4:c.29C>G, NM_024887.3:c.29C>G, NM_205861.3:c.29C>G, NM_205861.2:c.29C>G, NM_001319959.2:c.-274C>G, NM_001319959.1:c.-274C>G, NM_001243564.2:c.29C>G, NM_001243564.1:c.29C>G, NM_001243565.2:c.29C>G, NM_001243565.1:c.29C>G, XM_047430849.1:c.29C>G, XM_047430853.1:c.29C>G, XM_047430851.1:c.29C>G, XM_047430856.1:c.29C>G, XM_047430859.1:c.29C>G, XM_047430850.1:c.29C>G, XM_047430863.1:c.29C>G, XM_047430854.1:c.29C>G, XM_047430852.1:c.29C>G, XM_047430857.1:c.29C>G, XM_047430861.1:c.29C>G, XM_047430864.1:c.29C>G, XM_047430862.1:c.29C>G, XM_047430865.1:c.29C>G, XM_047430860.1:c.29C>G, NP_079163.2:p.Ser10Ter, NP_995583.1:p.Ser10Ter, NP_001230493.1:p.Ser10Ter, NP_001230494.1:p.Ser10Ter, XP_047286805.1:p.Ser10Ter, XP_047286809.1:p.Ser10Ter, XP_047286807.1:p.Ser10Ter, XP_047286812.1:p.Ser10Ter, XP_047286815.1:p.Ser10Ter, XP_047286806.1:p.Ser10Ter, XP_047286819.1:p.Ser10Ter, XP_047286810.1:p.Ser10Ter, XP_047286808.1:p.Ser10Ter, XP_047286813.1:p.Ser10Ter, XP_047286817.1:p.Ser10Ter, XP_047286820.1:p.Ser10Ter, XP_047286818.1:p.Ser10Ter, XP_047286821.1:p.Ser10Ter, XP_047286816.1:p.Ser10Ter

        4.

        rs1473842603 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          1:26469023 (GRCh38)
          1:26795514 (GRCh37)
          Canonical SPDI:
          NC_000001.11:26469022:C:A,NC_000001.11:26469022:C:G
          Gene:
          DHDDS (Varview), DHDDS-AS1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0./0 (GnomAD)
          HGVS:
          NC_000001.11:g.26469023C>A, NC_000001.11:g.26469023C>G, NC_000001.10:g.26795514C>A, NC_000001.10:g.26795514C>G, NG_029786.1:g.41742C>A, NG_029786.1:g.41742C>G, NM_024887.4:c.897C>A, NM_024887.4:c.897C>G, NM_024887.3:c.897C>A, NM_024887.3:c.897C>G, NM_205861.3:c.894C>A, NM_205861.3:c.894C>G, NM_205861.2:c.894C>A, NM_205861.2:c.894C>G, NM_001319959.2:c.615C>A, NM_001319959.2:c.615C>G, NM_001319959.1:c.615C>A, NM_001319959.1:c.615C>G, NM_001243564.2:c.792C>A, NM_001243564.2:c.792C>G, NM_001243564.1:c.792C>A, NM_001243564.1:c.792C>G, NM_001243565.2:c.777C>A, NM_001243565.2:c.777C>G, NM_001243565.1:c.777C>A, NM_001243565.1:c.777C>G, XM_047430849.1:c.897C>A, XM_047430849.1:c.897C>G, XM_047430853.1:c.894C>A, XM_047430853.1:c.894C>G, XM_047430851.1:c.897C>A, XM_047430851.1:c.897C>G, XM_047430856.1:c.894C>A, XM_047430856.1:c.894C>G, XM_047430859.1:c.795C>A, XM_047430859.1:c.795C>G, XM_047430850.1:c.897C>A, XM_047430850.1:c.897C>G, XM_047430863.1:c.792C>A, XM_047430863.1:c.792C>G, XM_047430854.1:c.894C>A, XM_047430854.1:c.894C>G, XM_047430852.1:c.897C>A, XM_047430852.1:c.897C>G, XM_047430857.1:c.894C>A, XM_047430857.1:c.894C>G, XM_047430861.1:c.795C>A, XM_047430861.1:c.795C>G, XM_047430864.1:c.792C>A, XM_047430864.1:c.792C>G, XM_047430862.1:c.795C>A, XM_047430862.1:c.795C>G, XM_047430865.1:c.792C>A, XM_047430865.1:c.792C>G, XM_047430860.1:c.795C>A, XM_047430860.1:c.795C>G

          5.

          rs1470680563 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:26432994 (GRCh38)
            1:26759485 (GRCh37)
            Canonical SPDI:
            NC_000001.11:26432993:G:A
            Gene:
            DHDDS (Varview), LOC124903883 (Varview)
            Functional Consequence:
            2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.26432994G>A, NC_000001.10:g.26759485G>A, NG_029786.1:g.5713G>A, NM_024887.4:c.49G>A, NM_024887.3:c.49G>A, NM_205861.3:c.49G>A, NM_205861.2:c.49G>A, NM_001319959.2:c.-254G>A, NM_001319959.1:c.-254G>A, NM_001243564.2:c.49G>A, NM_001243564.1:c.49G>A, NM_001243565.2:c.49G>A, NM_001243565.1:c.49G>A, XM_047430849.1:c.49G>A, XM_047430853.1:c.49G>A, XM_047430851.1:c.49G>A, XM_047430856.1:c.49G>A, XM_047430859.1:c.49G>A, XM_047430850.1:c.49G>A, XM_047430863.1:c.49G>A, XM_047430854.1:c.49G>A, XM_047430852.1:c.49G>A, XM_047430857.1:c.49G>A, XM_047430861.1:c.49G>A, XM_047430864.1:c.49G>A, XM_047430862.1:c.49G>A, XM_047430865.1:c.49G>A, XM_047430860.1:c.49G>A, NP_079163.2:p.Ala17Thr, NP_995583.1:p.Ala17Thr, NP_001230493.1:p.Ala17Thr, NP_001230494.1:p.Ala17Thr, XP_047286805.1:p.Ala17Thr, XP_047286809.1:p.Ala17Thr, XP_047286807.1:p.Ala17Thr, XP_047286812.1:p.Ala17Thr, XP_047286815.1:p.Ala17Thr, XP_047286806.1:p.Ala17Thr, XP_047286819.1:p.Ala17Thr, XP_047286810.1:p.Ala17Thr, XP_047286808.1:p.Ala17Thr, XP_047286813.1:p.Ala17Thr, XP_047286817.1:p.Ala17Thr, XP_047286820.1:p.Ala17Thr, XP_047286818.1:p.Ala17Thr, XP_047286821.1:p.Ala17Thr, XP_047286816.1:p.Ala17Thr

            6.

            rs1469383331 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:26442808 (GRCh38)
              1:26769299 (GRCh37)
              Canonical SPDI:
              NC_000001.11:26442807:C:T
              Gene:
              DHDDS (Varview)
              Functional Consequence:
              synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1465474377 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:26468912 (GRCh38)
                1:26795403 (GRCh37)
                Canonical SPDI:
                NC_000001.11:26468911:T:C
                Gene:
                DHDDS (Varview), DHDDS-AS1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1458034796 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:26469000 (GRCh38)
                  1:26795491 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:26468999:G:A
                  Gene:
                  DHDDS (Varview), DHDDS-AS1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.26469000G>A, NC_000001.10:g.26795491G>A, NG_029786.1:g.41719G>A, NM_024887.4:c.874G>A, NM_024887.3:c.874G>A, NM_205861.3:c.871G>A, NM_205861.2:c.871G>A, NM_001319959.2:c.592G>A, NM_001319959.1:c.592G>A, NM_001243564.2:c.769G>A, NM_001243564.1:c.769G>A, NM_001243565.2:c.754G>A, NM_001243565.1:c.754G>A, XM_047430849.1:c.874G>A, XM_047430853.1:c.871G>A, XM_047430851.1:c.874G>A, XM_047430856.1:c.871G>A, XM_047430859.1:c.772G>A, XM_047430850.1:c.874G>A, XM_047430863.1:c.769G>A, XM_047430854.1:c.871G>A, XM_047430852.1:c.874G>A, XM_047430857.1:c.871G>A, XM_047430861.1:c.772G>A, XM_047430864.1:c.769G>A, XM_047430862.1:c.772G>A, XM_047430865.1:c.769G>A, XM_047430860.1:c.772G>A, NP_079163.2:p.Asp292Asn, NP_995583.1:p.Asp291Asn, NP_001306888.1:p.Asp198Asn, NP_001230493.1:p.Asp257Asn, NP_001230494.1:p.Asp252Asn, XP_047286805.1:p.Asp292Asn, XP_047286809.1:p.Asp291Asn, XP_047286807.1:p.Asp292Asn, XP_047286812.1:p.Asp291Asn, XP_047286815.1:p.Asp258Asn, XP_047286806.1:p.Asp292Asn, XP_047286819.1:p.Asp257Asn, XP_047286810.1:p.Asp291Asn, XP_047286808.1:p.Asp292Asn, XP_047286813.1:p.Asp291Asn, XP_047286817.1:p.Asp258Asn, XP_047286820.1:p.Asp257Asn, XP_047286818.1:p.Asp258Asn, XP_047286821.1:p.Asp257Asn, XP_047286816.1:p.Asp258Asn

                  9.

                  rs1452462094 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:26469107 (GRCh38)
                    1:26795598 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:26469106:C:T
                    Gene:
                    DHDDS (Varview), DHDDS-AS1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    HGVS:

                    10.

                    rs1452121062 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:26442735 (GRCh38)
                      1:26769226 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:26442734:T:C
                      Gene:
                      DHDDS (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,5_prime_UTR_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.26442735T>C, NC_000001.10:g.26769226T>C, NG_029786.1:g.15454T>C, NM_024887.4:c.185T>C, NM_024887.3:c.185T>C, NM_205861.3:c.185T>C, NM_205861.2:c.185T>C, NM_001319959.2:c.-95T>C, NM_001319959.1:c.-95T>C, NM_001243564.2:c.185T>C, NM_001243564.1:c.185T>C, NM_001243565.2:c.185T>C, NM_001243565.1:c.185T>C, XM_047430849.1:c.185T>C, XM_047430853.1:c.185T>C, XM_047430851.1:c.185T>C, XM_047430856.1:c.185T>C, XM_047430859.1:c.185T>C, XM_047430850.1:c.185T>C, XM_047430863.1:c.185T>C, XM_047430854.1:c.185T>C, XM_047430852.1:c.185T>C, XM_047430857.1:c.185T>C, XM_047430861.1:c.185T>C, XM_047430864.1:c.185T>C, XM_047430862.1:c.185T>C, XM_047430865.1:c.185T>C, XM_047430860.1:c.185T>C, NP_079163.2:p.Leu62Pro, NP_995583.1:p.Leu62Pro, NP_001230493.1:p.Leu62Pro, NP_001230494.1:p.Leu62Pro, XP_047286805.1:p.Leu62Pro, XP_047286809.1:p.Leu62Pro, XP_047286807.1:p.Leu62Pro, XP_047286812.1:p.Leu62Pro, XP_047286815.1:p.Leu62Pro, XP_047286806.1:p.Leu62Pro, XP_047286819.1:p.Leu62Pro, XP_047286810.1:p.Leu62Pro, XP_047286808.1:p.Leu62Pro, XP_047286813.1:p.Leu62Pro, XP_047286817.1:p.Leu62Pro, XP_047286820.1:p.Leu62Pro, XP_047286818.1:p.Leu62Pro, XP_047286821.1:p.Leu62Pro, XP_047286816.1:p.Leu62Pro

                      11.

                      rs1451080797 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:26446336 (GRCh38)
                        1:26772827 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:26446335:G:A
                        Gene:
                        DHDDS (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.00011/2 (TOMMO)
                        A=0.00055/1 (Korea1K)
                        HGVS:
                        NC_000001.11:g.26446336G>A, NC_000001.10:g.26772827G>A, NG_029786.1:g.19055G>A, NM_024887.4:c.344G>A, NM_024887.3:c.344G>A, NM_205861.3:c.344G>A, NM_205861.2:c.344G>A, NM_001319959.2:c.65G>A, NM_001319959.1:c.65G>A, NM_001243564.2:c.344G>A, NM_001243564.1:c.344G>A, XM_047430849.1:c.344G>A, XM_047430853.1:c.344G>A, XM_047430851.1:c.344G>A, XM_047430856.1:c.344G>A, XM_047430859.1:c.344G>A, XM_047430850.1:c.344G>A, XM_047430863.1:c.344G>A, XM_047430854.1:c.344G>A, XM_047430852.1:c.344G>A, XM_047430857.1:c.344G>A, XM_047430861.1:c.344G>A, XM_047430864.1:c.344G>A, XM_047430862.1:c.344G>A, XM_047430865.1:c.344G>A, XM_047430860.1:c.344G>A, NP_079163.2:p.Gly115Glu, NP_995583.1:p.Gly115Glu, NP_001306888.1:p.Gly22Glu, NP_001230493.1:p.Gly115Glu, XP_047286805.1:p.Gly115Glu, XP_047286809.1:p.Gly115Glu, XP_047286807.1:p.Gly115Glu, XP_047286812.1:p.Gly115Glu, XP_047286815.1:p.Gly115Glu, XP_047286806.1:p.Gly115Glu, XP_047286819.1:p.Gly115Glu, XP_047286810.1:p.Gly115Glu, XP_047286808.1:p.Gly115Glu, XP_047286813.1:p.Gly115Glu, XP_047286817.1:p.Gly115Glu, XP_047286820.1:p.Gly115Glu, XP_047286818.1:p.Gly115Glu, XP_047286821.1:p.Gly115Glu, XP_047286816.1:p.Gly115Glu

                        12.

                        rs1450247661 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:26460086 (GRCh38)
                          1:26786577 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:26460085:C:T
                          Gene:
                          DHDDS (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.26460086C>T, NC_000001.10:g.26786577C>T, NG_029786.1:g.32805C>T, NM_024887.4:c.707C>T, NM_024887.3:c.707C>T, NM_205861.3:c.707C>T, NM_205861.2:c.707C>T, NM_001319959.2:c.428C>T, NM_001319959.1:c.428C>T, NM_001243564.2:c.605C>T, NM_001243564.1:c.605C>T, NM_001243565.2:c.590C>T, NM_001243565.1:c.590C>T, XM_047430849.1:c.707C>T, XM_047430853.1:c.707C>T, XM_047430851.1:c.707C>T, XM_047430856.1:c.707C>T, XM_047430859.1:c.605C>T, XM_047430850.1:c.707C>T, XM_047430863.1:c.605C>T, XM_047430854.1:c.707C>T, XM_047430852.1:c.707C>T, XM_047430857.1:c.707C>T, XM_047430861.1:c.605C>T, XM_047430864.1:c.605C>T, XM_047430862.1:c.605C>T, XM_047430865.1:c.605C>T, XM_047430860.1:c.605C>T, NP_079163.2:p.Thr236Ile, NP_995583.1:p.Thr236Ile, NP_001306888.1:p.Thr143Ile, NP_001230493.1:p.Thr202Ile, NP_001230494.1:p.Thr197Ile, XP_047286805.1:p.Thr236Ile, XP_047286809.1:p.Thr236Ile, XP_047286807.1:p.Thr236Ile, XP_047286812.1:p.Thr236Ile, XP_047286815.1:p.Thr202Ile, XP_047286806.1:p.Thr236Ile, XP_047286819.1:p.Thr202Ile, XP_047286810.1:p.Thr236Ile, XP_047286808.1:p.Thr236Ile, XP_047286813.1:p.Thr236Ile, XP_047286817.1:p.Thr202Ile, XP_047286820.1:p.Thr202Ile, XP_047286818.1:p.Thr202Ile, XP_047286821.1:p.Thr202Ile, XP_047286816.1:p.Thr202Ile

                          13.

                          rs1448050850 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            1:26468980 (GRCh38)
                            1:26795471 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:26468979:A:G,NC_000001.11:26468979:A:T
                            Gene:
                            DHDDS (Varview), DHDDS-AS1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.00005/1 (ALFA)
                            HGVS:
                            NC_000001.11:g.26468980A>G, NC_000001.11:g.26468980A>T, NC_000001.10:g.26795471A>G, NC_000001.10:g.26795471A>T, NG_029786.1:g.41699A>G, NG_029786.1:g.41699A>T, NM_024887.4:c.854A>G, NM_024887.4:c.854A>T, NM_024887.3:c.854A>G, NM_024887.3:c.854A>T, NM_205861.3:c.851A>G, NM_205861.3:c.851A>T, NM_205861.2:c.851A>G, NM_205861.2:c.851A>T, NM_001319959.2:c.572A>G, NM_001319959.2:c.572A>T, NM_001319959.1:c.572A>G, NM_001319959.1:c.572A>T, NM_001243564.2:c.749A>G, NM_001243564.2:c.749A>T, NM_001243564.1:c.749A>G, NM_001243564.1:c.749A>T, NM_001243565.2:c.734A>G, NM_001243565.2:c.734A>T, NM_001243565.1:c.734A>G, NM_001243565.1:c.734A>T, XM_047430849.1:c.854A>G, XM_047430849.1:c.854A>T, XM_047430853.1:c.851A>G, XM_047430853.1:c.851A>T, XM_047430851.1:c.854A>G, XM_047430851.1:c.854A>T, XM_047430856.1:c.851A>G, XM_047430856.1:c.851A>T, XM_047430859.1:c.752A>G, XM_047430859.1:c.752A>T, XM_047430850.1:c.854A>G, XM_047430850.1:c.854A>T, XM_047430863.1:c.749A>G, XM_047430863.1:c.749A>T, XM_047430854.1:c.851A>G, XM_047430854.1:c.851A>T, XM_047430852.1:c.854A>G, XM_047430852.1:c.854A>T, XM_047430857.1:c.851A>G, XM_047430857.1:c.851A>T, XM_047430861.1:c.752A>G, XM_047430861.1:c.752A>T, XM_047430864.1:c.749A>G, XM_047430864.1:c.749A>T, XM_047430862.1:c.752A>G, XM_047430862.1:c.752A>T, XM_047430865.1:c.749A>G, XM_047430865.1:c.749A>T, XM_047430860.1:c.752A>G, XM_047430860.1:c.752A>T, NP_079163.2:p.Glu285Gly, NP_079163.2:p.Glu285Val, NP_995583.1:p.Glu284Gly, NP_995583.1:p.Glu284Val, NP_001306888.1:p.Glu191Gly, NP_001306888.1:p.Glu191Val, NP_001230493.1:p.Glu250Gly, NP_001230493.1:p.Glu250Val, NP_001230494.1:p.Glu245Gly, NP_001230494.1:p.Glu245Val, XP_047286805.1:p.Glu285Gly, XP_047286805.1:p.Glu285Val, XP_047286809.1:p.Glu284Gly, XP_047286809.1:p.Glu284Val, XP_047286807.1:p.Glu285Gly, XP_047286807.1:p.Glu285Val, XP_047286812.1:p.Glu284Gly, XP_047286812.1:p.Glu284Val, XP_047286815.1:p.Glu251Gly, XP_047286815.1:p.Glu251Val, XP_047286806.1:p.Glu285Gly, XP_047286806.1:p.Glu285Val, XP_047286819.1:p.Glu250Gly, XP_047286819.1:p.Glu250Val, XP_047286810.1:p.Glu284Gly, XP_047286810.1:p.Glu284Val, XP_047286808.1:p.Glu285Gly, XP_047286808.1:p.Glu285Val, XP_047286813.1:p.Glu284Gly, XP_047286813.1:p.Glu284Val, XP_047286817.1:p.Glu251Gly, XP_047286817.1:p.Glu251Val, XP_047286820.1:p.Glu250Gly, XP_047286820.1:p.Glu250Val, XP_047286818.1:p.Glu251Gly, XP_047286818.1:p.Glu251Val, XP_047286821.1:p.Glu250Gly, XP_047286821.1:p.Glu250Val, XP_047286816.1:p.Glu251Gly, XP_047286816.1:p.Glu251Val

                            14.

                            rs1446489827 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:26468953 (GRCh38)
                              1:26795444 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:26468952:C:T
                              Gene:
                              DHDDS (Varview), DHDDS-AS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000142/2 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.26468953C>T, NC_000001.10:g.26795444C>T, NG_029786.1:g.41672C>T, NM_024887.4:c.827C>T, NM_024887.3:c.827C>T, NM_205861.3:c.824C>T, NM_205861.2:c.824C>T, NM_001319959.2:c.545C>T, NM_001319959.1:c.545C>T, NM_001243564.2:c.722C>T, NM_001243564.1:c.722C>T, NM_001243565.2:c.707C>T, NM_001243565.1:c.707C>T, XM_047430849.1:c.827C>T, XM_047430853.1:c.824C>T, XM_047430851.1:c.827C>T, XM_047430856.1:c.824C>T, XM_047430859.1:c.725C>T, XM_047430850.1:c.827C>T, XM_047430863.1:c.722C>T, XM_047430854.1:c.824C>T, XM_047430852.1:c.827C>T, XM_047430857.1:c.824C>T, XM_047430861.1:c.725C>T, XM_047430864.1:c.722C>T, XM_047430862.1:c.725C>T, XM_047430865.1:c.722C>T, XM_047430860.1:c.725C>T, NP_079163.2:p.Ala276Val, NP_995583.1:p.Ala275Val, NP_001306888.1:p.Ala182Val, NP_001230493.1:p.Ala241Val, NP_001230494.1:p.Ala236Val, XP_047286805.1:p.Ala276Val, XP_047286809.1:p.Ala275Val, XP_047286807.1:p.Ala276Val, XP_047286812.1:p.Ala275Val, XP_047286815.1:p.Ala242Val, XP_047286806.1:p.Ala276Val, XP_047286819.1:p.Ala241Val, XP_047286810.1:p.Ala275Val, XP_047286808.1:p.Ala276Val, XP_047286813.1:p.Ala275Val, XP_047286817.1:p.Ala242Val, XP_047286820.1:p.Ala241Val, XP_047286818.1:p.Ala242Val, XP_047286821.1:p.Ala241Val, XP_047286816.1:p.Ala242Val

                              15.

                              rs1445287933 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                1:26446431 (GRCh38)
                                1:26772922 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:26446430:A:C
                                Gene:
                                DHDDS (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.26446431A>C, NC_000001.10:g.26772922A>C, NG_029786.1:g.19150A>C, NM_024887.4:c.439A>C, NM_024887.3:c.439A>C, NM_205861.3:c.439A>C, NM_205861.2:c.439A>C, NM_001319959.2:c.160A>C, NM_001319959.1:c.160A>C, NM_001243564.2:c.439A>C, NM_001243564.1:c.439A>C, XM_047430849.1:c.439A>C, XM_047430853.1:c.439A>C, XM_047430851.1:c.439A>C, XM_047430856.1:c.439A>C, XM_047430859.1:c.439A>C, XM_047430850.1:c.439A>C, XM_047430863.1:c.439A>C, XM_047430854.1:c.439A>C, XM_047430852.1:c.439A>C, XM_047430857.1:c.439A>C, XM_047430861.1:c.439A>C, XM_047430864.1:c.439A>C, XM_047430862.1:c.439A>C, XM_047430865.1:c.439A>C, XM_047430860.1:c.439A>C, NP_079163.2:p.Lys147Gln, NP_995583.1:p.Lys147Gln, NP_001306888.1:p.Lys54Gln, NP_001230493.1:p.Asn147His, XP_047286805.1:p.Lys147Gln, XP_047286809.1:p.Lys147Gln, XP_047286807.1:p.Lys147Gln, XP_047286812.1:p.Lys147Gln, XP_047286815.1:p.Asn147His, XP_047286806.1:p.Lys147Gln, XP_047286819.1:p.Asn147His, XP_047286810.1:p.Lys147Gln, XP_047286808.1:p.Lys147Gln, XP_047286813.1:p.Lys147Gln, XP_047286817.1:p.Asn147His, XP_047286820.1:p.Asn147His, XP_047286818.1:p.Asn147His, XP_047286821.1:p.Asn147His, XP_047286816.1:p.Asn147His

                                16.

                                rs1440891060 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  1:26446349 (GRCh38)
                                  1:26772840 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:26446348:G:A,NC_000001.11:26446348:G:C
                                  Gene:
                                  DHDDS (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,intron_variant
                                  Clinical significance:
                                  likely-benign
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.26446349G>A, NC_000001.11:g.26446349G>C, NC_000001.10:g.26772840G>A, NC_000001.10:g.26772840G>C, NG_029786.1:g.19068G>A, NG_029786.1:g.19068G>C, NM_024887.4:c.357G>A, NM_024887.4:c.357G>C, NM_024887.3:c.357G>A, NM_024887.3:c.357G>C, NM_205861.3:c.357G>A, NM_205861.3:c.357G>C, NM_205861.2:c.357G>A, NM_205861.2:c.357G>C, NM_001319959.2:c.78G>A, NM_001319959.2:c.78G>C, NM_001319959.1:c.78G>A, NM_001319959.1:c.78G>C, NM_001243564.2:c.357G>A, NM_001243564.2:c.357G>C, NM_001243564.1:c.357G>A, NM_001243564.1:c.357G>C, XM_047430849.1:c.357G>A, XM_047430849.1:c.357G>C, XM_047430853.1:c.357G>A, XM_047430853.1:c.357G>C, XM_047430851.1:c.357G>A, XM_047430851.1:c.357G>C, XM_047430856.1:c.357G>A, XM_047430856.1:c.357G>C, XM_047430859.1:c.357G>A, XM_047430859.1:c.357G>C, XM_047430850.1:c.357G>A, XM_047430850.1:c.357G>C, XM_047430863.1:c.357G>A, XM_047430863.1:c.357G>C, XM_047430854.1:c.357G>A, XM_047430854.1:c.357G>C, XM_047430852.1:c.357G>A, XM_047430852.1:c.357G>C, XM_047430857.1:c.357G>A, XM_047430857.1:c.357G>C, XM_047430861.1:c.357G>A, XM_047430861.1:c.357G>C, XM_047430864.1:c.357G>A, XM_047430864.1:c.357G>C, XM_047430862.1:c.357G>A, XM_047430862.1:c.357G>C, XM_047430865.1:c.357G>A, XM_047430865.1:c.357G>C, XM_047430860.1:c.357G>A, XM_047430860.1:c.357G>C

                                  17.

                                  rs1440123857 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:26468930 (GRCh38)
                                    1:26795421 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:26468929:G:A
                                    Gene:
                                    DHDDS (Varview), DHDDS-AS1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1429550781 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      1:26438220 (GRCh38)
                                      1:26764711 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:26438219:A:T
                                      Gene:
                                      DHDDS (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.26438220A>T, NC_000001.10:g.26764711A>T, NG_029786.1:g.10939A>T, NM_024887.4:c.116A>T, NM_024887.3:c.116A>T, NM_205861.3:c.116A>T, NM_205861.2:c.116A>T, NM_001319959.2:c.-187A>T, NM_001319959.1:c.-187A>T, NM_001243564.2:c.116A>T, NM_001243564.1:c.116A>T, NM_001243565.2:c.116A>T, NM_001243565.1:c.116A>T, XM_047430849.1:c.116A>T, XM_047430853.1:c.116A>T, XM_047430851.1:c.116A>T, XM_047430856.1:c.116A>T, XM_047430859.1:c.116A>T, XM_047430850.1:c.116A>T, XM_047430863.1:c.116A>T, XM_047430854.1:c.116A>T, XM_047430852.1:c.116A>T, XM_047430857.1:c.116A>T, XM_047430861.1:c.116A>T, XM_047430864.1:c.116A>T, XM_047430862.1:c.116A>T, XM_047430865.1:c.116A>T, XM_047430860.1:c.116A>T, NP_079163.2:p.Tyr39Phe, NP_995583.1:p.Tyr39Phe, NP_001230493.1:p.Tyr39Phe, NP_001230494.1:p.Tyr39Phe, XP_047286805.1:p.Tyr39Phe, XP_047286809.1:p.Tyr39Phe, XP_047286807.1:p.Tyr39Phe, XP_047286812.1:p.Tyr39Phe, XP_047286815.1:p.Tyr39Phe, XP_047286806.1:p.Tyr39Phe, XP_047286819.1:p.Tyr39Phe, XP_047286810.1:p.Tyr39Phe, XP_047286808.1:p.Tyr39Phe, XP_047286813.1:p.Tyr39Phe, XP_047286817.1:p.Tyr39Phe, XP_047286820.1:p.Tyr39Phe, XP_047286818.1:p.Tyr39Phe, XP_047286821.1:p.Tyr39Phe, XP_047286816.1:p.Tyr39Phe

                                      19.

                                      rs1429309776 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:26432985 (GRCh38)
                                        1:26759476 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:26432984:C:G
                                        Gene:
                                        DHDDS (Varview), LOC124903883 (Varview)
                                        Functional Consequence:
                                        missense_variant,5_prime_UTR_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.26432985C>G, NC_000001.10:g.26759476C>G, NG_029786.1:g.5704C>G, NM_024887.4:c.40C>G, NM_024887.3:c.40C>G, NM_205861.3:c.40C>G, NM_205861.2:c.40C>G, NM_001319959.2:c.-263C>G, NM_001319959.1:c.-263C>G, NM_001243564.2:c.40C>G, NM_001243564.1:c.40C>G, NM_001243565.2:c.40C>G, NM_001243565.1:c.40C>G, XM_047430849.1:c.40C>G, XM_047430853.1:c.40C>G, XM_047430851.1:c.40C>G, XM_047430856.1:c.40C>G, XM_047430859.1:c.40C>G, XM_047430850.1:c.40C>G, XM_047430863.1:c.40C>G, XM_047430854.1:c.40C>G, XM_047430852.1:c.40C>G, XM_047430857.1:c.40C>G, XM_047430861.1:c.40C>G, XM_047430864.1:c.40C>G, XM_047430862.1:c.40C>G, XM_047430865.1:c.40C>G, XM_047430860.1:c.40C>G, NP_079163.2:p.Arg14Gly, NP_995583.1:p.Arg14Gly, NP_001230493.1:p.Arg14Gly, NP_001230494.1:p.Arg14Gly, XP_047286805.1:p.Arg14Gly, XP_047286809.1:p.Arg14Gly, XP_047286807.1:p.Arg14Gly, XP_047286812.1:p.Arg14Gly, XP_047286815.1:p.Arg14Gly, XP_047286806.1:p.Arg14Gly, XP_047286819.1:p.Arg14Gly, XP_047286810.1:p.Arg14Gly, XP_047286808.1:p.Arg14Gly, XP_047286813.1:p.Arg14Gly, XP_047286817.1:p.Arg14Gly, XP_047286820.1:p.Arg14Gly, XP_047286818.1:p.Arg14Gly, XP_047286821.1:p.Arg14Gly, XP_047286816.1:p.Arg14Gly

                                        20.

                                        rs1427295345 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:26457834 (GRCh38)
                                          1:26784325 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:26457833:C:T
                                          Gene:
                                          DHDDS (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000014/2 (GnomAD)
                                          T=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.26457834C>T, NC_000001.10:g.26784325C>T, NG_029786.1:g.30553C>T, NM_024887.4:c.586C>T, NM_024887.3:c.586C>T, NM_205861.3:c.586C>T, NM_205861.2:c.586C>T, NM_001319959.2:c.307C>T, NM_001319959.1:c.307C>T, NM_001243564.2:c.484C>T, NM_001243564.1:c.484C>T, NM_001243565.2:c.469C>T, NM_001243565.1:c.469C>T, XM_047430849.1:c.586C>T, XM_047430853.1:c.586C>T, XM_047430851.1:c.586C>T, XM_047430856.1:c.586C>T, XM_047430859.1:c.484C>T, XM_047430850.1:c.586C>T, XM_047430863.1:c.484C>T, XM_047430854.1:c.586C>T, XM_047430852.1:c.586C>T, XM_047430857.1:c.586C>T, XM_047430861.1:c.484C>T, XM_047430864.1:c.484C>T, XM_047430862.1:c.484C>T, XM_047430865.1:c.484C>T, XM_047430860.1:c.484C>T, NP_079163.2:p.Arg196Cys, NP_995583.1:p.Arg196Cys, NP_001306888.1:p.Arg103Cys, NP_001230493.1:p.Arg162Cys, NP_001230494.1:p.Arg157Cys, XP_047286805.1:p.Arg196Cys, XP_047286809.1:p.Arg196Cys, XP_047286807.1:p.Arg196Cys, XP_047286812.1:p.Arg196Cys, XP_047286815.1:p.Arg162Cys, XP_047286806.1:p.Arg196Cys, XP_047286819.1:p.Arg162Cys, XP_047286810.1:p.Arg196Cys, XP_047286808.1:p.Arg196Cys, XP_047286813.1:p.Arg196Cys, XP_047286817.1:p.Arg162Cys, XP_047286820.1:p.Arg162Cys, XP_047286818.1:p.Arg162Cys, XP_047286821.1:p.Arg162Cys, XP_047286816.1:p.Arg162Cys

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