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Items: 1 to 20 of 1725

1.

rs1490736595 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    1:27550021 (GRCh38)
    1:27876532 (GRCh37)
    Canonical SPDI:
    NC_000001.11:27550020:C:G
    Gene:
    AHDC1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.27550021C>G, NC_000001.10:g.27876532C>G, NG_034158.1:g.58474G>C, NM_001029882.3:c.2095G>C, NM_001029882.2:c.2095G>C, NM_001371928.1:c.2095G>C, XM_005245850.4:c.2095G>C, XM_005245850.3:c.2095G>C, XM_005245850.2:c.2095G>C, XM_005245850.1:c.2095G>C, XM_005245849.4:c.2095G>C, XM_005245849.3:c.2095G>C, XM_005245849.2:c.2095G>C, XM_005245849.1:c.2095G>C, XM_005245851.4:c.2095G>C, XM_005245851.3:c.2095G>C, XM_005245851.2:c.2095G>C, XM_005245851.1:c.2095G>C, XM_005245852.4:c.2095G>C, XM_005245852.3:c.2095G>C, XM_005245852.2:c.2095G>C, XM_005245852.1:c.2095G>C, XM_011541257.3:c.2095G>C, XM_011541257.2:c.2095G>C, XM_011541257.1:c.2095G>C, XM_011541256.3:c.2095G>C, XM_011541256.2:c.2095G>C, XM_011541256.1:c.2095G>C, XM_011541255.2:c.2095G>C, XM_011541255.1:c.2095G>C, XM_047418020.1:c.2095G>C, XR_007059183.1:n.4278G>C, XM_047418015.1:c.2095G>C, XM_047418010.1:c.2095G>C, XM_047418016.1:c.2095G>C, XM_047418012.1:c.2095G>C, XM_047418011.1:c.2095G>C, XM_047418014.1:c.2095G>C, XM_047418013.1:c.2095G>C, XM_047418021.1:c.2095G>C, XM_047418023.1:c.2095G>C, XR_007059182.1:n.2849G>C, XM_047418019.1:c.2095G>C, XM_047418018.1:c.2095G>C, XR_007059184.1:n.2631G>C, XM_047418022.1:c.2095G>C, XM_047418017.1:c.2095G>C, NP_001025053.1:p.Gly699Arg, NP_001358857.1:p.Gly699Arg, XP_005245907.1:p.Gly699Arg, XP_005245906.1:p.Gly699Arg, XP_005245908.1:p.Gly699Arg, XP_005245909.1:p.Gly699Arg, XP_011539559.1:p.Gly699Arg, XP_011539558.1:p.Gly699Arg, XP_011539557.1:p.Gly699Arg, XP_047273976.1:p.Gly699Arg, XP_047273971.1:p.Gly699Arg, XP_047273966.1:p.Gly699Arg, XP_047273972.1:p.Gly699Arg, XP_047273968.1:p.Gly699Arg, XP_047273967.1:p.Gly699Arg, XP_047273970.1:p.Gly699Arg, XP_047273969.1:p.Gly699Arg, XP_047273977.1:p.Gly699Arg, XP_047273979.1:p.Gly699Arg, XP_047273975.1:p.Gly699Arg, XP_047273974.1:p.Gly699Arg, XP_047273978.1:p.Gly699Arg, XP_047273973.1:p.Gly699Arg

    2.

    rs1490245615 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGCCACAGTGGCTGCCTCGGCCGC>- [Show Flanks]
      Chromosome:
      1:27550391 (GRCh38)
      1:27876902 (GRCh37)
      Canonical SPDI:
      NC_000001.11:27550384:GGCCGCTGCCACAGTGGCTGCCTCGGCCGC:GGCCGC
      Gene:
      AHDC1 (Varview)
      Functional Consequence:
      inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.27550391_27550414del, NC_000001.10:g.27876902_27876925del, NG_034158.1:g.58087_58110del, NM_001029882.3:c.1708_1731del, NM_001029882.2:c.1708_1731del, NM_001371928.1:c.1708_1731del, XM_005245850.4:c.1708_1731del, XM_005245850.3:c.1708_1731del, XM_005245850.2:c.1708_1731del, XM_005245850.1:c.1708_1731del, XM_005245849.4:c.1708_1731del, XM_005245849.3:c.1708_1731del, XM_005245849.2:c.1708_1731del, XM_005245849.1:c.1708_1731del, XM_005245851.4:c.1708_1731del, XM_005245851.3:c.1708_1731del, XM_005245851.2:c.1708_1731del, XM_005245851.1:c.1708_1731del, XM_005245852.4:c.1708_1731del, XM_005245852.3:c.1708_1731del, XM_005245852.2:c.1708_1731del, XM_005245852.1:c.1708_1731del, XM_011541257.3:c.1708_1731del, XM_011541257.2:c.1708_1731del, XM_011541257.1:c.1708_1731del, XM_011541256.3:c.1708_1731del, XM_011541256.2:c.1708_1731del, XM_011541256.1:c.1708_1731del, XM_011541255.2:c.1708_1731del, XM_011541255.1:c.1708_1731del, XM_047418020.1:c.1708_1731del, XR_007059183.1:n.3891_3914del, XM_047418015.1:c.1708_1731del, XM_047418010.1:c.1708_1731del, XM_047418016.1:c.1708_1731del, XM_047418012.1:c.1708_1731del, XM_047418011.1:c.1708_1731del, XM_047418014.1:c.1708_1731del, XM_047418013.1:c.1708_1731del, XM_047418021.1:c.1708_1731del, XM_047418023.1:c.1708_1731del, XR_007059182.1:n.2462_2485del, XM_047418019.1:c.1708_1731del, XM_047418018.1:c.1708_1731del, XR_007059184.1:n.2244_2267del, XM_047418022.1:c.1708_1731del, XM_047418017.1:c.1708_1731del, NP_001025053.1:p.Glu570_Ala577del, NP_001358857.1:p.Glu570_Ala577del, XP_005245907.1:p.Glu570_Ala577del, XP_005245906.1:p.Glu570_Ala577del, XP_005245908.1:p.Glu570_Ala577del, XP_005245909.1:p.Glu570_Ala577del, XP_011539559.1:p.Glu570_Ala577del, XP_011539558.1:p.Glu570_Ala577del, XP_011539557.1:p.Glu570_Ala577del, XP_047273976.1:p.Glu570_Ala577del, XP_047273971.1:p.Glu570_Ala577del, XP_047273966.1:p.Glu570_Ala577del, XP_047273972.1:p.Glu570_Ala577del, XP_047273968.1:p.Glu570_Ala577del, XP_047273967.1:p.Glu570_Ala577del, XP_047273970.1:p.Glu570_Ala577del, XP_047273969.1:p.Glu570_Ala577del, XP_047273977.1:p.Glu570_Ala577del, XP_047273979.1:p.Glu570_Ala577del, XP_047273975.1:p.Glu570_Ala577del, XP_047273974.1:p.Glu570_Ala577del, XP_047273978.1:p.Glu570_Ala577del, XP_047273973.1:p.Glu570_Ala577del

      3.

      rs1490085596 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:27547450 (GRCh38)
        1:27873961 (GRCh37)
        Canonical SPDI:
        NC_000001.11:27547449:G:A
        Gene:
        AHDC1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.27547450G>A, NC_000001.10:g.27873961G>A, NG_034158.1:g.61045C>T, NM_001029882.3:c.4666C>T, NM_001029882.2:c.4666C>T, NM_001371928.1:c.4666C>T, XM_005245850.4:c.4666C>T, XM_005245850.3:c.4666C>T, XM_005245850.2:c.4666C>T, XM_005245850.1:c.4666C>T, XM_005245849.4:c.4666C>T, XM_005245849.3:c.4666C>T, XM_005245849.2:c.4666C>T, XM_005245849.1:c.4666C>T, XM_005245851.4:c.4666C>T, XM_005245851.3:c.4666C>T, XM_005245851.2:c.4666C>T, XM_005245851.1:c.4666C>T, XM_005245852.4:c.4666C>T, XM_005245852.3:c.4666C>T, XM_005245852.2:c.4666C>T, XM_005245852.1:c.4666C>T, XM_011541257.3:c.4666C>T, XM_011541257.2:c.4666C>T, XM_011541257.1:c.4666C>T, XM_011541256.3:c.4666C>T, XM_011541256.2:c.4666C>T, XM_011541256.1:c.4666C>T, XM_011541255.2:c.4666C>T, XM_011541255.1:c.4666C>T, XM_047418020.1:c.4666C>T, XR_007059183.1:n.6849C>T, XM_047418015.1:c.4666C>T, XM_047418010.1:c.4666C>T, XM_047418016.1:c.4666C>T, XM_047418012.1:c.4666C>T, XM_047418011.1:c.4666C>T, XM_047418014.1:c.4666C>T, XM_047418013.1:c.4666C>T, XM_047418021.1:c.4666C>T, XM_047418023.1:c.4666C>T, XR_007059182.1:n.5420C>T, XM_047418019.1:c.4666C>T, XM_047418018.1:c.4666C>T, XR_007059184.1:n.5202C>T, XM_047418022.1:c.4666C>T, XM_047418017.1:c.4666C>T, NM_015699.1:c.622C>T

        4.

        rs1489833467 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:27551920 (GRCh38)
          1:27878431 (GRCh37)
          Canonical SPDI:
          NC_000001.11:27551919:G:A
          Gene:
          AHDC1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.27551920G>A, NC_000001.10:g.27878431G>A, NG_034158.1:g.56575C>T, NM_001029882.3:c.196C>T, NM_001029882.2:c.196C>T, NM_001371928.1:c.196C>T, XM_005245850.4:c.196C>T, XM_005245850.3:c.196C>T, XM_005245850.2:c.196C>T, XM_005245850.1:c.196C>T, XM_005245849.4:c.196C>T, XM_005245849.3:c.196C>T, XM_005245849.2:c.196C>T, XM_005245849.1:c.196C>T, XM_005245851.4:c.196C>T, XM_005245851.3:c.196C>T, XM_005245851.2:c.196C>T, XM_005245851.1:c.196C>T, XM_005245852.4:c.196C>T, XM_005245852.3:c.196C>T, XM_005245852.2:c.196C>T, XM_005245852.1:c.196C>T, XM_011541257.3:c.196C>T, XM_011541257.2:c.196C>T, XM_011541257.1:c.196C>T, XM_011541256.3:c.196C>T, XM_011541256.2:c.196C>T, XM_011541256.1:c.196C>T, XM_011541255.2:c.196C>T, XM_011541255.1:c.196C>T, XM_047418020.1:c.196C>T, XR_007059183.1:n.2379C>T, XM_047418015.1:c.196C>T, XM_047418010.1:c.196C>T, XM_047418016.1:c.196C>T, XM_047418012.1:c.196C>T, XM_047418011.1:c.196C>T, XM_047418014.1:c.196C>T, XM_047418013.1:c.196C>T, XM_047418021.1:c.196C>T, XM_047418023.1:c.196C>T, XR_007059182.1:n.950C>T, XM_047418019.1:c.196C>T, XM_047418018.1:c.196C>T, XR_007059184.1:n.732C>T, XM_047418022.1:c.196C>T, XM_047418017.1:c.196C>T, NP_001025053.1:p.Arg66Cys, NP_001358857.1:p.Arg66Cys, XP_005245907.1:p.Arg66Cys, XP_005245906.1:p.Arg66Cys, XP_005245908.1:p.Arg66Cys, XP_005245909.1:p.Arg66Cys, XP_011539559.1:p.Arg66Cys, XP_011539558.1:p.Arg66Cys, XP_011539557.1:p.Arg66Cys, XP_047273976.1:p.Arg66Cys, XP_047273971.1:p.Arg66Cys, XP_047273966.1:p.Arg66Cys, XP_047273972.1:p.Arg66Cys, XP_047273968.1:p.Arg66Cys, XP_047273967.1:p.Arg66Cys, XP_047273970.1:p.Arg66Cys, XP_047273969.1:p.Arg66Cys, XP_047273977.1:p.Arg66Cys, XP_047273979.1:p.Arg66Cys, XP_047273975.1:p.Arg66Cys, XP_047273974.1:p.Arg66Cys, XP_047273978.1:p.Arg66Cys, XP_047273973.1:p.Arg66Cys

          5.

          rs1489802439 has merged into rs772205875 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AGGCTC>-,AGGCTCAGGCTC [Show Flanks]
            Chromosome:
            1:27551516 (GRCh38)
            1:27878027 (GRCh37)
            Canonical SPDI:
            NC_000001.11:27551503:AGGCTCAGGCTCAGGCTC:AGGCTCAGGCTC,NC_000001.11:27551503:AGGCTCAGGCTCAGGCTC:AGGCTCAGGCTCAGGCTCAGGCTC
            Gene:
            AHDC1 (Varview)
            Functional Consequence:
            inframe_deletion,non_coding_transcript_variant,coding_sequence_variant,inframe_insertion
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AGGCTCAGGCTC=0./0 (ALFA)
            -=0.000004/1 (GnomAD_exomes)
            -=0.000004/1 (TOPMED)
            -=0.000008/1 (ExAC)
            HGVS:
            NC_000001.11:g.27551504AGGCTC[2], NC_000001.11:g.27551504AGGCTC[4], NC_000001.10:g.27878015AGGCTC[2], NC_000001.10:g.27878015AGGCTC[4], NG_034158.1:g.56974GAGCCT[2], NG_034158.1:g.56974GAGCCT[4], NM_001029882.3:c.595GAGCCT[2], NM_001029882.3:c.595GAGCCT[4], NM_001029882.2:c.595GAGCCT[2], NM_001029882.2:c.595GAGCCT[4], NM_001371928.1:c.595GAGCCT[2], NM_001371928.1:c.595GAGCCT[4], XM_005245850.4:c.595GAGCCT[2], XM_005245850.4:c.595GAGCCT[4], XM_005245850.3:c.595GAGCCT[2], XM_005245850.3:c.595GAGCCT[4], XM_005245850.2:c.595GAGCCT[2], XM_005245850.2:c.595GAGCCT[4], XM_005245850.1:c.595GAGCCT[2], XM_005245850.1:c.595GAGCCT[4], XM_005245849.4:c.595GAGCCT[2], XM_005245849.4:c.595GAGCCT[4], XM_005245849.3:c.595GAGCCT[2], XM_005245849.3:c.595GAGCCT[4], XM_005245849.2:c.595GAGCCT[2], XM_005245849.2:c.595GAGCCT[4], XM_005245849.1:c.595GAGCCT[2], XM_005245849.1:c.595GAGCCT[4], XM_005245851.4:c.595GAGCCT[2], XM_005245851.4:c.595GAGCCT[4], XM_005245851.3:c.595GAGCCT[2], XM_005245851.3:c.595GAGCCT[4], XM_005245851.2:c.595GAGCCT[2], XM_005245851.2:c.595GAGCCT[4], XM_005245851.1:c.595GAGCCT[2], XM_005245851.1:c.595GAGCCT[4], XM_005245852.4:c.595GAGCCT[2], XM_005245852.4:c.595GAGCCT[4], XM_005245852.3:c.595GAGCCT[2], XM_005245852.3:c.595GAGCCT[4], XM_005245852.2:c.595GAGCCT[2], XM_005245852.2:c.595GAGCCT[4], XM_005245852.1:c.595GAGCCT[2], XM_005245852.1:c.595GAGCCT[4], XM_011541257.3:c.595GAGCCT[2], XM_011541257.3:c.595GAGCCT[4], XM_011541257.2:c.595GAGCCT[2], XM_011541257.2:c.595GAGCCT[4], XM_011541257.1:c.595GAGCCT[2], XM_011541257.1:c.595GAGCCT[4], XM_011541256.3:c.595GAGCCT[2], XM_011541256.3:c.595GAGCCT[4], XM_011541256.2:c.595GAGCCT[2], XM_011541256.2:c.595GAGCCT[4], XM_011541256.1:c.595GAGCCT[2], XM_011541256.1:c.595GAGCCT[4], XM_011541255.2:c.595GAGCCT[2], XM_011541255.2:c.595GAGCCT[4], XM_011541255.1:c.595GAGCCT[2], XM_011541255.1:c.595GAGCCT[4], XM_047418020.1:c.595GAGCCT[2], XM_047418020.1:c.595GAGCCT[4], XR_007059183.1:n.2778GAGCCT[2], XR_007059183.1:n.2778GAGCCT[4], XM_047418015.1:c.595GAGCCT[2], XM_047418015.1:c.595GAGCCT[4], XM_047418010.1:c.595GAGCCT[2], XM_047418010.1:c.595GAGCCT[4], XM_047418016.1:c.595GAGCCT[2], XM_047418016.1:c.595GAGCCT[4], XM_047418012.1:c.595GAGCCT[2], XM_047418012.1:c.595GAGCCT[4], XM_047418011.1:c.595GAGCCT[2], XM_047418011.1:c.595GAGCCT[4], XM_047418014.1:c.595GAGCCT[2], XM_047418014.1:c.595GAGCCT[4], XM_047418013.1:c.595GAGCCT[2], XM_047418013.1:c.595GAGCCT[4], XM_047418021.1:c.595GAGCCT[2], XM_047418021.1:c.595GAGCCT[4], XM_047418023.1:c.595GAGCCT[2], XM_047418023.1:c.595GAGCCT[4], XR_007059182.1:n.1349GAGCCT[2], XR_007059182.1:n.1349GAGCCT[4], XM_047418019.1:c.595GAGCCT[2], XM_047418019.1:c.595GAGCCT[4], XM_047418018.1:c.595GAGCCT[2], XM_047418018.1:c.595GAGCCT[4], XR_007059184.1:n.1131GAGCCT[2], XR_007059184.1:n.1131GAGCCT[4], XM_047418022.1:c.595GAGCCT[2], XM_047418022.1:c.595GAGCCT[4], XM_047418017.1:c.595GAGCCT[2], XM_047418017.1:c.595GAGCCT[4], NP_001025053.1:p.199EP[2], NP_001025053.1:p.199EP[4], NP_001358857.1:p.199EP[2], NP_001358857.1:p.199EP[4], XP_005245907.1:p.199EP[2], XP_005245907.1:p.199EP[4], XP_005245906.1:p.199EP[2], XP_005245906.1:p.199EP[4], XP_005245908.1:p.199EP[2], XP_005245908.1:p.199EP[4], XP_005245909.1:p.199EP[2], XP_005245909.1:p.199EP[4], XP_011539559.1:p.199EP[2], XP_011539559.1:p.199EP[4], XP_011539558.1:p.199EP[2], XP_011539558.1:p.199EP[4], XP_011539557.1:p.199EP[2], XP_011539557.1:p.199EP[4], XP_047273976.1:p.199EP[2], XP_047273976.1:p.199EP[4], XP_047273971.1:p.199EP[2], XP_047273971.1:p.199EP[4], XP_047273966.1:p.199EP[2], XP_047273966.1:p.199EP[4], XP_047273972.1:p.199EP[2], XP_047273972.1:p.199EP[4], XP_047273968.1:p.199EP[2], XP_047273968.1:p.199EP[4], XP_047273967.1:p.199EP[2], XP_047273967.1:p.199EP[4], XP_047273970.1:p.199EP[2], XP_047273970.1:p.199EP[4], XP_047273969.1:p.199EP[2], XP_047273969.1:p.199EP[4], XP_047273977.1:p.199EP[2], XP_047273977.1:p.199EP[4], XP_047273979.1:p.199EP[2], XP_047273979.1:p.199EP[4], XP_047273975.1:p.199EP[2], XP_047273975.1:p.199EP[4], XP_047273974.1:p.199EP[2], XP_047273974.1:p.199EP[4], XP_047273978.1:p.199EP[2], XP_047273978.1:p.199EP[4], XP_047273973.1:p.199EP[2], XP_047273973.1:p.199EP[4]

            6.

            rs1489648375 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:27548766 (GRCh38)
              1:27875277 (GRCh37)
              Canonical SPDI:
              NC_000001.11:27548765:A:G
              Gene:
              AHDC1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.27548766A>G, NC_000001.10:g.27875277A>G, NG_034158.1:g.59729T>C, NM_001029882.3:c.3350T>C, NM_001029882.2:c.3350T>C, NM_001371928.1:c.3350T>C, XM_005245850.4:c.3350T>C, XM_005245850.3:c.3350T>C, XM_005245850.2:c.3350T>C, XM_005245850.1:c.3350T>C, XM_005245849.4:c.3350T>C, XM_005245849.3:c.3350T>C, XM_005245849.2:c.3350T>C, XM_005245849.1:c.3350T>C, XM_005245851.4:c.3350T>C, XM_005245851.3:c.3350T>C, XM_005245851.2:c.3350T>C, XM_005245851.1:c.3350T>C, XM_005245852.4:c.3350T>C, XM_005245852.3:c.3350T>C, XM_005245852.2:c.3350T>C, XM_005245852.1:c.3350T>C, XM_011541257.3:c.3350T>C, XM_011541257.2:c.3350T>C, XM_011541257.1:c.3350T>C, XM_011541256.3:c.3350T>C, XM_011541256.2:c.3350T>C, XM_011541256.1:c.3350T>C, XM_011541255.2:c.3350T>C, XM_011541255.1:c.3350T>C, XM_047418020.1:c.3350T>C, XR_007059183.1:n.5533T>C, XM_047418015.1:c.3350T>C, XM_047418010.1:c.3350T>C, XM_047418016.1:c.3350T>C, XM_047418012.1:c.3350T>C, XM_047418011.1:c.3350T>C, XM_047418014.1:c.3350T>C, XM_047418013.1:c.3350T>C, XM_047418021.1:c.3350T>C, XM_047418023.1:c.3350T>C, XR_007059182.1:n.4104T>C, XM_047418019.1:c.3350T>C, XM_047418018.1:c.3350T>C, XR_007059184.1:n.3886T>C, XM_047418022.1:c.3350T>C, XM_047418017.1:c.3350T>C, NP_001025053.1:p.Leu1117Pro, NP_001358857.1:p.Leu1117Pro, XP_005245907.1:p.Leu1117Pro, XP_005245906.1:p.Leu1117Pro, XP_005245908.1:p.Leu1117Pro, XP_005245909.1:p.Leu1117Pro, XP_011539559.1:p.Leu1117Pro, XP_011539558.1:p.Leu1117Pro, XP_011539557.1:p.Leu1117Pro, XP_047273976.1:p.Leu1117Pro, XP_047273971.1:p.Leu1117Pro, XP_047273966.1:p.Leu1117Pro, XP_047273972.1:p.Leu1117Pro, XP_047273968.1:p.Leu1117Pro, XP_047273967.1:p.Leu1117Pro, XP_047273970.1:p.Leu1117Pro, XP_047273969.1:p.Leu1117Pro, XP_047273977.1:p.Leu1117Pro, XP_047273979.1:p.Leu1117Pro, XP_047273975.1:p.Leu1117Pro, XP_047273974.1:p.Leu1117Pro, XP_047273978.1:p.Leu1117Pro, XP_047273973.1:p.Leu1117Pro

              7.

              rs1489407010 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:27551362 (GRCh38)
                1:27877873 (GRCh37)
                Canonical SPDI:
                NC_000001.11:27551361:T:C
                Gene:
                AHDC1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.27551362T>C, NC_000001.10:g.27877873T>C, NG_034158.1:g.57133A>G, NM_001029882.3:c.754A>G, NM_001029882.2:c.754A>G, NM_001371928.1:c.754A>G, XM_005245850.4:c.754A>G, XM_005245850.3:c.754A>G, XM_005245850.2:c.754A>G, XM_005245850.1:c.754A>G, XM_005245849.4:c.754A>G, XM_005245849.3:c.754A>G, XM_005245849.2:c.754A>G, XM_005245849.1:c.754A>G, XM_005245851.4:c.754A>G, XM_005245851.3:c.754A>G, XM_005245851.2:c.754A>G, XM_005245851.1:c.754A>G, XM_005245852.4:c.754A>G, XM_005245852.3:c.754A>G, XM_005245852.2:c.754A>G, XM_005245852.1:c.754A>G, XM_011541257.3:c.754A>G, XM_011541257.2:c.754A>G, XM_011541257.1:c.754A>G, XM_011541256.3:c.754A>G, XM_011541256.2:c.754A>G, XM_011541256.1:c.754A>G, XM_011541255.2:c.754A>G, XM_011541255.1:c.754A>G, XM_047418020.1:c.754A>G, XR_007059183.1:n.2937A>G, XM_047418015.1:c.754A>G, XM_047418010.1:c.754A>G, XM_047418016.1:c.754A>G, XM_047418012.1:c.754A>G, XM_047418011.1:c.754A>G, XM_047418014.1:c.754A>G, XM_047418013.1:c.754A>G, XM_047418021.1:c.754A>G, XM_047418023.1:c.754A>G, XR_007059182.1:n.1508A>G, XM_047418019.1:c.754A>G, XM_047418018.1:c.754A>G, XR_007059184.1:n.1290A>G, XM_047418022.1:c.754A>G, XM_047418017.1:c.754A>G, NP_001025053.1:p.Thr252Ala, NP_001358857.1:p.Thr252Ala, XP_005245907.1:p.Thr252Ala, XP_005245906.1:p.Thr252Ala, XP_005245908.1:p.Thr252Ala, XP_005245909.1:p.Thr252Ala, XP_011539559.1:p.Thr252Ala, XP_011539558.1:p.Thr252Ala, XP_011539557.1:p.Thr252Ala, XP_047273976.1:p.Thr252Ala, XP_047273971.1:p.Thr252Ala, XP_047273966.1:p.Thr252Ala, XP_047273972.1:p.Thr252Ala, XP_047273968.1:p.Thr252Ala, XP_047273967.1:p.Thr252Ala, XP_047273970.1:p.Thr252Ala, XP_047273969.1:p.Thr252Ala, XP_047273977.1:p.Thr252Ala, XP_047273979.1:p.Thr252Ala, XP_047273975.1:p.Thr252Ala, XP_047273974.1:p.Thr252Ala, XP_047273978.1:p.Thr252Ala, XP_047273973.1:p.Thr252Ala

                8.

                rs1489145005 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:27551409 (GRCh38)
                  1:27877920 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:27551408:T:C
                  Gene:
                  AHDC1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.27551409T>C, NC_000001.10:g.27877920T>C, NG_034158.1:g.57086A>G, NM_001029882.3:c.707A>G, NM_001029882.2:c.707A>G, NM_001371928.1:c.707A>G, XM_005245850.4:c.707A>G, XM_005245850.3:c.707A>G, XM_005245850.2:c.707A>G, XM_005245850.1:c.707A>G, XM_005245849.4:c.707A>G, XM_005245849.3:c.707A>G, XM_005245849.2:c.707A>G, XM_005245849.1:c.707A>G, XM_005245851.4:c.707A>G, XM_005245851.3:c.707A>G, XM_005245851.2:c.707A>G, XM_005245851.1:c.707A>G, XM_005245852.4:c.707A>G, XM_005245852.3:c.707A>G, XM_005245852.2:c.707A>G, XM_005245852.1:c.707A>G, XM_011541257.3:c.707A>G, XM_011541257.2:c.707A>G, XM_011541257.1:c.707A>G, XM_011541256.3:c.707A>G, XM_011541256.2:c.707A>G, XM_011541256.1:c.707A>G, XM_011541255.2:c.707A>G, XM_011541255.1:c.707A>G, XM_047418020.1:c.707A>G, XR_007059183.1:n.2890A>G, XM_047418015.1:c.707A>G, XM_047418010.1:c.707A>G, XM_047418016.1:c.707A>G, XM_047418012.1:c.707A>G, XM_047418011.1:c.707A>G, XM_047418014.1:c.707A>G, XM_047418013.1:c.707A>G, XM_047418021.1:c.707A>G, XM_047418023.1:c.707A>G, XR_007059182.1:n.1461A>G, XM_047418019.1:c.707A>G, XM_047418018.1:c.707A>G, XR_007059184.1:n.1243A>G, XM_047418022.1:c.707A>G, XM_047418017.1:c.707A>G, NP_001025053.1:p.Tyr236Cys, NP_001358857.1:p.Tyr236Cys, XP_005245907.1:p.Tyr236Cys, XP_005245906.1:p.Tyr236Cys, XP_005245908.1:p.Tyr236Cys, XP_005245909.1:p.Tyr236Cys, XP_011539559.1:p.Tyr236Cys, XP_011539558.1:p.Tyr236Cys, XP_011539557.1:p.Tyr236Cys, XP_047273976.1:p.Tyr236Cys, XP_047273971.1:p.Tyr236Cys, XP_047273966.1:p.Tyr236Cys, XP_047273972.1:p.Tyr236Cys, XP_047273968.1:p.Tyr236Cys, XP_047273967.1:p.Tyr236Cys, XP_047273970.1:p.Tyr236Cys, XP_047273969.1:p.Tyr236Cys, XP_047273977.1:p.Tyr236Cys, XP_047273979.1:p.Tyr236Cys, XP_047273975.1:p.Tyr236Cys, XP_047273974.1:p.Tyr236Cys, XP_047273978.1:p.Tyr236Cys, XP_047273973.1:p.Tyr236Cys

                  9.

                  rs1488658400 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:27551567 (GRCh38)
                    1:27878078 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:27551566:C:T
                    Gene:
                    AHDC1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                    HGVS:
                    NC_000001.11:g.27551567C>T, NC_000001.10:g.27878078C>T, NG_034158.1:g.56928G>A, NM_001029882.3:c.549G>A, NM_001029882.2:c.549G>A, NM_001371928.1:c.549G>A, XM_005245850.4:c.549G>A, XM_005245850.3:c.549G>A, XM_005245850.2:c.549G>A, XM_005245850.1:c.549G>A, XM_005245849.4:c.549G>A, XM_005245849.3:c.549G>A, XM_005245849.2:c.549G>A, XM_005245849.1:c.549G>A, XM_005245851.4:c.549G>A, XM_005245851.3:c.549G>A, XM_005245851.2:c.549G>A, XM_005245851.1:c.549G>A, XM_005245852.4:c.549G>A, XM_005245852.3:c.549G>A, XM_005245852.2:c.549G>A, XM_005245852.1:c.549G>A, XM_011541257.3:c.549G>A, XM_011541257.2:c.549G>A, XM_011541257.1:c.549G>A, XM_011541256.3:c.549G>A, XM_011541256.2:c.549G>A, XM_011541256.1:c.549G>A, XM_011541255.2:c.549G>A, XM_011541255.1:c.549G>A, XM_047418020.1:c.549G>A, XR_007059183.1:n.2732G>A, XM_047418015.1:c.549G>A, XM_047418010.1:c.549G>A, XM_047418016.1:c.549G>A, XM_047418012.1:c.549G>A, XM_047418011.1:c.549G>A, XM_047418014.1:c.549G>A, XM_047418013.1:c.549G>A, XM_047418021.1:c.549G>A, XM_047418023.1:c.549G>A, XR_007059182.1:n.1303G>A, XM_047418019.1:c.549G>A, XM_047418018.1:c.549G>A, XR_007059184.1:n.1085G>A, XM_047418022.1:c.549G>A, XM_047418017.1:c.549G>A

                    10.

                    rs1488408287 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      1:27551892 (GRCh38)
                      1:27878403 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:27551891:G:T
                      Gene:
                      AHDC1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.27551892G>T, NC_000001.10:g.27878403G>T, NG_034158.1:g.56603C>A, NM_001029882.3:c.224C>A, NM_001029882.2:c.224C>A, NM_001371928.1:c.224C>A, XM_005245850.4:c.224C>A, XM_005245850.3:c.224C>A, XM_005245850.2:c.224C>A, XM_005245850.1:c.224C>A, XM_005245849.4:c.224C>A, XM_005245849.3:c.224C>A, XM_005245849.2:c.224C>A, XM_005245849.1:c.224C>A, XM_005245851.4:c.224C>A, XM_005245851.3:c.224C>A, XM_005245851.2:c.224C>A, XM_005245851.1:c.224C>A, XM_005245852.4:c.224C>A, XM_005245852.3:c.224C>A, XM_005245852.2:c.224C>A, XM_005245852.1:c.224C>A, XM_011541257.3:c.224C>A, XM_011541257.2:c.224C>A, XM_011541257.1:c.224C>A, XM_011541256.3:c.224C>A, XM_011541256.2:c.224C>A, XM_011541256.1:c.224C>A, XM_011541255.2:c.224C>A, XM_011541255.1:c.224C>A, XM_047418020.1:c.224C>A, XR_007059183.1:n.2407C>A, XM_047418015.1:c.224C>A, XM_047418010.1:c.224C>A, XM_047418016.1:c.224C>A, XM_047418012.1:c.224C>A, XM_047418011.1:c.224C>A, XM_047418014.1:c.224C>A, XM_047418013.1:c.224C>A, XM_047418021.1:c.224C>A, XM_047418023.1:c.224C>A, XR_007059182.1:n.978C>A, XM_047418019.1:c.224C>A, XM_047418018.1:c.224C>A, XR_007059184.1:n.760C>A, XM_047418022.1:c.224C>A, XM_047418017.1:c.224C>A, NP_001025053.1:p.Pro75Gln, NP_001358857.1:p.Pro75Gln, XP_005245907.1:p.Pro75Gln, XP_005245906.1:p.Pro75Gln, XP_005245908.1:p.Pro75Gln, XP_005245909.1:p.Pro75Gln, XP_011539559.1:p.Pro75Gln, XP_011539558.1:p.Pro75Gln, XP_011539557.1:p.Pro75Gln, XP_047273976.1:p.Pro75Gln, XP_047273971.1:p.Pro75Gln, XP_047273966.1:p.Pro75Gln, XP_047273972.1:p.Pro75Gln, XP_047273968.1:p.Pro75Gln, XP_047273967.1:p.Pro75Gln, XP_047273970.1:p.Pro75Gln, XP_047273969.1:p.Pro75Gln, XP_047273977.1:p.Pro75Gln, XP_047273979.1:p.Pro75Gln, XP_047273975.1:p.Pro75Gln, XP_047273974.1:p.Pro75Gln, XP_047273978.1:p.Pro75Gln, XP_047273973.1:p.Pro75Gln

                      11.

                      rs1487894903 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        1:27552028 (GRCh38)
                        1:27878539 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:27552027:C:G,NC_000001.11:27552027:C:T
                        Gene:
                        AHDC1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.001205/20 (TOMMO)
                        HGVS:
                        NC_000001.11:g.27552028C>G, NC_000001.11:g.27552028C>T, NC_000001.10:g.27878539C>G, NC_000001.10:g.27878539C>T, NG_034158.1:g.56467G>C, NG_034158.1:g.56467G>A, NM_001029882.3:c.88G>C, NM_001029882.3:c.88G>A, NM_001029882.2:c.88G>C, NM_001029882.2:c.88G>A, NM_001371928.1:c.88G>C, NM_001371928.1:c.88G>A, XM_005245850.4:c.88G>C, XM_005245850.4:c.88G>A, XM_005245850.3:c.88G>C, XM_005245850.3:c.88G>A, XM_005245850.2:c.88G>C, XM_005245850.2:c.88G>A, XM_005245850.1:c.88G>C, XM_005245850.1:c.88G>A, XM_005245849.4:c.88G>C, XM_005245849.4:c.88G>A, XM_005245849.3:c.88G>C, XM_005245849.3:c.88G>A, XM_005245849.2:c.88G>C, XM_005245849.2:c.88G>A, XM_005245849.1:c.88G>C, XM_005245849.1:c.88G>A, XM_005245851.4:c.88G>C, XM_005245851.4:c.88G>A, XM_005245851.3:c.88G>C, XM_005245851.3:c.88G>A, XM_005245851.2:c.88G>C, XM_005245851.2:c.88G>A, XM_005245851.1:c.88G>C, XM_005245851.1:c.88G>A, XM_005245852.4:c.88G>C, XM_005245852.4:c.88G>A, XM_005245852.3:c.88G>C, XM_005245852.3:c.88G>A, XM_005245852.2:c.88G>C, XM_005245852.2:c.88G>A, XM_005245852.1:c.88G>C, XM_005245852.1:c.88G>A, XM_011541257.3:c.88G>C, XM_011541257.3:c.88G>A, XM_011541257.2:c.88G>C, XM_011541257.2:c.88G>A, XM_011541257.1:c.88G>C, XM_011541257.1:c.88G>A, XM_011541256.3:c.88G>C, XM_011541256.3:c.88G>A, XM_011541256.2:c.88G>C, XM_011541256.2:c.88G>A, XM_011541256.1:c.88G>C, XM_011541256.1:c.88G>A, XM_011541255.2:c.88G>C, XM_011541255.2:c.88G>A, XM_011541255.1:c.88G>C, XM_011541255.1:c.88G>A, XM_047418020.1:c.88G>C, XM_047418020.1:c.88G>A, XR_007059183.1:n.2271G>C, XR_007059183.1:n.2271G>A, XM_047418015.1:c.88G>C, XM_047418015.1:c.88G>A, XM_047418010.1:c.88G>C, XM_047418010.1:c.88G>A, XM_047418016.1:c.88G>C, XM_047418016.1:c.88G>A, XM_047418012.1:c.88G>C, XM_047418012.1:c.88G>A, XM_047418011.1:c.88G>C, XM_047418011.1:c.88G>A, XM_047418014.1:c.88G>C, XM_047418014.1:c.88G>A, XM_047418013.1:c.88G>C, XM_047418013.1:c.88G>A, XM_047418021.1:c.88G>C, XM_047418021.1:c.88G>A, XM_047418023.1:c.88G>C, XM_047418023.1:c.88G>A, XR_007059182.1:n.842G>C, XR_007059182.1:n.842G>A, XM_047418019.1:c.88G>C, XM_047418019.1:c.88G>A, XM_047418018.1:c.88G>C, XM_047418018.1:c.88G>A, XR_007059184.1:n.624G>C, XR_007059184.1:n.624G>A, XM_047418022.1:c.88G>C, XM_047418022.1:c.88G>A, XM_047418017.1:c.88G>C, XM_047418017.1:c.88G>A, NP_001025053.1:p.Gly30Arg, NP_001025053.1:p.Gly30Ser, NP_001358857.1:p.Gly30Arg, NP_001358857.1:p.Gly30Ser, XP_005245907.1:p.Gly30Arg, XP_005245907.1:p.Gly30Ser, XP_005245906.1:p.Gly30Arg, XP_005245906.1:p.Gly30Ser, XP_005245908.1:p.Gly30Arg, XP_005245908.1:p.Gly30Ser, XP_005245909.1:p.Gly30Arg, XP_005245909.1:p.Gly30Ser, XP_011539559.1:p.Gly30Arg, XP_011539559.1:p.Gly30Ser, XP_011539558.1:p.Gly30Arg, XP_011539558.1:p.Gly30Ser, XP_011539557.1:p.Gly30Arg, XP_011539557.1:p.Gly30Ser, XP_047273976.1:p.Gly30Arg, XP_047273976.1:p.Gly30Ser, XP_047273971.1:p.Gly30Arg, XP_047273971.1:p.Gly30Ser, XP_047273966.1:p.Gly30Arg, XP_047273966.1:p.Gly30Ser, XP_047273972.1:p.Gly30Arg, XP_047273972.1:p.Gly30Ser, XP_047273968.1:p.Gly30Arg, XP_047273968.1:p.Gly30Ser, XP_047273967.1:p.Gly30Arg, XP_047273967.1:p.Gly30Ser, XP_047273970.1:p.Gly30Arg, XP_047273970.1:p.Gly30Ser, XP_047273969.1:p.Gly30Arg, XP_047273969.1:p.Gly30Ser, XP_047273977.1:p.Gly30Arg, XP_047273977.1:p.Gly30Ser, XP_047273979.1:p.Gly30Arg, XP_047273979.1:p.Gly30Ser, XP_047273975.1:p.Gly30Arg, XP_047273975.1:p.Gly30Ser, XP_047273974.1:p.Gly30Arg, XP_047273974.1:p.Gly30Ser, XP_047273978.1:p.Gly30Arg, XP_047273978.1:p.Gly30Ser, XP_047273973.1:p.Gly30Arg, XP_047273973.1:p.Gly30Ser

                        12.

                        rs1487738711 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:27549954 (GRCh38)
                          1:27876465 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:27549953:C:A
                          Gene:
                          AHDC1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000001.11:g.27549954C>A, NC_000001.10:g.27876465C>A, NG_034158.1:g.58541G>T, NM_001029882.3:c.2162G>T, NM_001029882.2:c.2162G>T, NM_001371928.1:c.2162G>T, XM_005245850.4:c.2162G>T, XM_005245850.3:c.2162G>T, XM_005245850.2:c.2162G>T, XM_005245850.1:c.2162G>T, XM_005245849.4:c.2162G>T, XM_005245849.3:c.2162G>T, XM_005245849.2:c.2162G>T, XM_005245849.1:c.2162G>T, XM_005245851.4:c.2162G>T, XM_005245851.3:c.2162G>T, XM_005245851.2:c.2162G>T, XM_005245851.1:c.2162G>T, XM_005245852.4:c.2162G>T, XM_005245852.3:c.2162G>T, XM_005245852.2:c.2162G>T, XM_005245852.1:c.2162G>T, XM_011541257.3:c.2162G>T, XM_011541257.2:c.2162G>T, XM_011541257.1:c.2162G>T, XM_011541256.3:c.2162G>T, XM_011541256.2:c.2162G>T, XM_011541256.1:c.2162G>T, XM_011541255.2:c.2162G>T, XM_011541255.1:c.2162G>T, XM_047418020.1:c.2162G>T, XR_007059183.1:n.4345G>T, XM_047418015.1:c.2162G>T, XM_047418010.1:c.2162G>T, XM_047418016.1:c.2162G>T, XM_047418012.1:c.2162G>T, XM_047418011.1:c.2162G>T, XM_047418014.1:c.2162G>T, XM_047418013.1:c.2162G>T, XM_047418021.1:c.2162G>T, XM_047418023.1:c.2162G>T, XR_007059182.1:n.2916G>T, XM_047418019.1:c.2162G>T, XM_047418018.1:c.2162G>T, XR_007059184.1:n.2698G>T, XM_047418022.1:c.2162G>T, XM_047418017.1:c.2162G>T, NP_001025053.1:p.Gly721Val, NP_001358857.1:p.Gly721Val, XP_005245907.1:p.Gly721Val, XP_005245906.1:p.Gly721Val, XP_005245908.1:p.Gly721Val, XP_005245909.1:p.Gly721Val, XP_011539559.1:p.Gly721Val, XP_011539558.1:p.Gly721Val, XP_011539557.1:p.Gly721Val, XP_047273976.1:p.Gly721Val, XP_047273971.1:p.Gly721Val, XP_047273966.1:p.Gly721Val, XP_047273972.1:p.Gly721Val, XP_047273968.1:p.Gly721Val, XP_047273967.1:p.Gly721Val, XP_047273970.1:p.Gly721Val, XP_047273969.1:p.Gly721Val, XP_047273977.1:p.Gly721Val, XP_047273979.1:p.Gly721Val, XP_047273975.1:p.Gly721Val, XP_047273974.1:p.Gly721Val, XP_047273978.1:p.Gly721Val, XP_047273973.1:p.Gly721Val

                          13.

                          rs1487643980 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            1:27547404 (GRCh38)
                            1:27873915 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:27547403:G:T
                            Gene:
                            AHDC1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.27547404G>T, NC_000001.10:g.27873915G>T, NG_034158.1:g.61091C>A, NM_001029882.3:c.4712C>A, NM_001029882.2:c.4712C>A, NM_001371928.1:c.4712C>A, XM_005245850.4:c.4712C>A, XM_005245850.3:c.4712C>A, XM_005245850.2:c.4712C>A, XM_005245850.1:c.4712C>A, XM_005245849.4:c.4712C>A, XM_005245849.3:c.4712C>A, XM_005245849.2:c.4712C>A, XM_005245849.1:c.4712C>A, XM_005245851.4:c.4712C>A, XM_005245851.3:c.4712C>A, XM_005245851.2:c.4712C>A, XM_005245851.1:c.4712C>A, XM_005245852.4:c.4712C>A, XM_005245852.3:c.4712C>A, XM_005245852.2:c.4712C>A, XM_005245852.1:c.4712C>A, XM_011541257.3:c.4712C>A, XM_011541257.2:c.4712C>A, XM_011541257.1:c.4712C>A, XM_011541256.3:c.4712C>A, XM_011541256.2:c.4712C>A, XM_011541256.1:c.4712C>A, XM_011541255.2:c.4712C>A, XM_011541255.1:c.4712C>A, XM_047418020.1:c.4712C>A, XR_007059183.1:n.6895C>A, XM_047418015.1:c.4712C>A, XM_047418010.1:c.4712C>A, XM_047418016.1:c.4712C>A, XM_047418012.1:c.4712C>A, XM_047418011.1:c.4712C>A, XM_047418014.1:c.4712C>A, XM_047418013.1:c.4712C>A, XM_047418021.1:c.4712C>A, XM_047418023.1:c.4712C>A, XR_007059182.1:n.5466C>A, XM_047418019.1:c.4712C>A, XM_047418018.1:c.4712C>A, XR_007059184.1:n.5248C>A, XM_047418022.1:c.4712C>A, XM_047418017.1:c.4712C>A, NM_015699.1:c.668C>A, NP_001025053.1:p.Pro1571His, NP_001358857.1:p.Pro1571His, XP_005245907.1:p.Pro1571His, XP_005245906.1:p.Pro1571His, XP_005245908.1:p.Pro1571His, XP_005245909.1:p.Pro1571His, XP_011539559.1:p.Pro1571His, XP_011539558.1:p.Pro1571His, XP_011539557.1:p.Pro1571His, XP_047273976.1:p.Pro1571His, XP_047273971.1:p.Pro1571His, XP_047273966.1:p.Pro1571His, XP_047273972.1:p.Pro1571His, XP_047273968.1:p.Pro1571His, XP_047273967.1:p.Pro1571His, XP_047273970.1:p.Pro1571His, XP_047273969.1:p.Pro1571His, XP_047273977.1:p.Pro1571His, XP_047273979.1:p.Pro1571His, XP_047273975.1:p.Pro1571His, XP_047273974.1:p.Pro1571His, XP_047273978.1:p.Pro1571His, XP_047273973.1:p.Pro1571His

                            14.

                            rs1487299082 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:27550770 (GRCh38)
                              1:27877281 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:27550769:G:A
                              Gene:
                              AHDC1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              A=0.000017/3 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.27550770G>A, NC_000001.10:g.27877281G>A, NG_034158.1:g.57725C>T, NM_001029882.3:c.1346C>T, NM_001029882.2:c.1346C>T, NM_001371928.1:c.1346C>T, XM_005245850.4:c.1346C>T, XM_005245850.3:c.1346C>T, XM_005245850.2:c.1346C>T, XM_005245850.1:c.1346C>T, XM_005245849.4:c.1346C>T, XM_005245849.3:c.1346C>T, XM_005245849.2:c.1346C>T, XM_005245849.1:c.1346C>T, XM_005245851.4:c.1346C>T, XM_005245851.3:c.1346C>T, XM_005245851.2:c.1346C>T, XM_005245851.1:c.1346C>T, XM_005245852.4:c.1346C>T, XM_005245852.3:c.1346C>T, XM_005245852.2:c.1346C>T, XM_005245852.1:c.1346C>T, XM_011541257.3:c.1346C>T, XM_011541257.2:c.1346C>T, XM_011541257.1:c.1346C>T, XM_011541256.3:c.1346C>T, XM_011541256.2:c.1346C>T, XM_011541256.1:c.1346C>T, XM_011541255.2:c.1346C>T, XM_011541255.1:c.1346C>T, XM_047418020.1:c.1346C>T, XR_007059183.1:n.3529C>T, XM_047418015.1:c.1346C>T, XM_047418010.1:c.1346C>T, XM_047418016.1:c.1346C>T, XM_047418012.1:c.1346C>T, XM_047418011.1:c.1346C>T, XM_047418014.1:c.1346C>T, XM_047418013.1:c.1346C>T, XM_047418021.1:c.1346C>T, XM_047418023.1:c.1346C>T, XR_007059182.1:n.2100C>T, XM_047418019.1:c.1346C>T, XM_047418018.1:c.1346C>T, XR_007059184.1:n.1882C>T, XM_047418022.1:c.1346C>T, XM_047418017.1:c.1346C>T, NP_001025053.1:p.Pro449Leu, NP_001358857.1:p.Pro449Leu, XP_005245907.1:p.Pro449Leu, XP_005245906.1:p.Pro449Leu, XP_005245908.1:p.Pro449Leu, XP_005245909.1:p.Pro449Leu, XP_011539559.1:p.Pro449Leu, XP_011539558.1:p.Pro449Leu, XP_011539557.1:p.Pro449Leu, XP_047273976.1:p.Pro449Leu, XP_047273971.1:p.Pro449Leu, XP_047273966.1:p.Pro449Leu, XP_047273972.1:p.Pro449Leu, XP_047273968.1:p.Pro449Leu, XP_047273967.1:p.Pro449Leu, XP_047273970.1:p.Pro449Leu, XP_047273969.1:p.Pro449Leu, XP_047273977.1:p.Pro449Leu, XP_047273979.1:p.Pro449Leu, XP_047273975.1:p.Pro449Leu, XP_047273974.1:p.Pro449Leu, XP_047273978.1:p.Pro449Leu, XP_047273973.1:p.Pro449Leu

                              15.

                              rs1486131567 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:27548535 (GRCh38)
                                1:27875046 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:27548534:C:T
                                Gene:
                                AHDC1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000001.11:g.27548535C>T, NC_000001.10:g.27875046C>T, NG_034158.1:g.59960G>A, NM_001029882.3:c.3581G>A, NM_001029882.2:c.3581G>A, NM_001371928.1:c.3581G>A, XM_005245850.4:c.3581G>A, XM_005245850.3:c.3581G>A, XM_005245850.2:c.3581G>A, XM_005245850.1:c.3581G>A, XM_005245849.4:c.3581G>A, XM_005245849.3:c.3581G>A, XM_005245849.2:c.3581G>A, XM_005245849.1:c.3581G>A, XM_005245851.4:c.3581G>A, XM_005245851.3:c.3581G>A, XM_005245851.2:c.3581G>A, XM_005245851.1:c.3581G>A, XM_005245852.4:c.3581G>A, XM_005245852.3:c.3581G>A, XM_005245852.2:c.3581G>A, XM_005245852.1:c.3581G>A, XM_011541257.3:c.3581G>A, XM_011541257.2:c.3581G>A, XM_011541257.1:c.3581G>A, XM_011541256.3:c.3581G>A, XM_011541256.2:c.3581G>A, XM_011541256.1:c.3581G>A, XM_011541255.2:c.3581G>A, XM_011541255.1:c.3581G>A, XM_047418020.1:c.3581G>A, XR_007059183.1:n.5764G>A, XM_047418015.1:c.3581G>A, XM_047418010.1:c.3581G>A, XM_047418016.1:c.3581G>A, XM_047418012.1:c.3581G>A, XM_047418011.1:c.3581G>A, XM_047418014.1:c.3581G>A, XM_047418013.1:c.3581G>A, XM_047418021.1:c.3581G>A, XM_047418023.1:c.3581G>A, XR_007059182.1:n.4335G>A, XM_047418019.1:c.3581G>A, XM_047418018.1:c.3581G>A, XR_007059184.1:n.4117G>A, XM_047418022.1:c.3581G>A, XM_047418017.1:c.3581G>A, NM_015699.1:c.-463G>A, NP_001025053.1:p.Gly1194Asp, NP_001358857.1:p.Gly1194Asp, XP_005245907.1:p.Gly1194Asp, XP_005245906.1:p.Gly1194Asp, XP_005245908.1:p.Gly1194Asp, XP_005245909.1:p.Gly1194Asp, XP_011539559.1:p.Gly1194Asp, XP_011539558.1:p.Gly1194Asp, XP_011539557.1:p.Gly1194Asp, XP_047273976.1:p.Gly1194Asp, XP_047273971.1:p.Gly1194Asp, XP_047273966.1:p.Gly1194Asp, XP_047273972.1:p.Gly1194Asp, XP_047273968.1:p.Gly1194Asp, XP_047273967.1:p.Gly1194Asp, XP_047273970.1:p.Gly1194Asp, XP_047273969.1:p.Gly1194Asp, XP_047273977.1:p.Gly1194Asp, XP_047273979.1:p.Gly1194Asp, XP_047273975.1:p.Gly1194Asp, XP_047273974.1:p.Gly1194Asp, XP_047273978.1:p.Gly1194Asp, XP_047273973.1:p.Gly1194Asp

                                16.

                                rs1485757357 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:27550703 (GRCh38)
                                  1:27877214 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:27550702:C:A
                                  Gene:
                                  AHDC1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.27550703C>A, NC_000001.10:g.27877214C>A, NG_034158.1:g.57792G>T, NM_001029882.3:c.1413G>T, NM_001029882.2:c.1413G>T, NM_001371928.1:c.1413G>T, XM_005245850.4:c.1413G>T, XM_005245850.3:c.1413G>T, XM_005245850.2:c.1413G>T, XM_005245850.1:c.1413G>T, XM_005245849.4:c.1413G>T, XM_005245849.3:c.1413G>T, XM_005245849.2:c.1413G>T, XM_005245849.1:c.1413G>T, XM_005245851.4:c.1413G>T, XM_005245851.3:c.1413G>T, XM_005245851.2:c.1413G>T, XM_005245851.1:c.1413G>T, XM_005245852.4:c.1413G>T, XM_005245852.3:c.1413G>T, XM_005245852.2:c.1413G>T, XM_005245852.1:c.1413G>T, XM_011541257.3:c.1413G>T, XM_011541257.2:c.1413G>T, XM_011541257.1:c.1413G>T, XM_011541256.3:c.1413G>T, XM_011541256.2:c.1413G>T, XM_011541256.1:c.1413G>T, XM_011541255.2:c.1413G>T, XM_011541255.1:c.1413G>T, XM_047418020.1:c.1413G>T, XR_007059183.1:n.3596G>T, XM_047418015.1:c.1413G>T, XM_047418010.1:c.1413G>T, XM_047418016.1:c.1413G>T, XM_047418012.1:c.1413G>T, XM_047418011.1:c.1413G>T, XM_047418014.1:c.1413G>T, XM_047418013.1:c.1413G>T, XM_047418021.1:c.1413G>T, XM_047418023.1:c.1413G>T, XR_007059182.1:n.2167G>T, XM_047418019.1:c.1413G>T, XM_047418018.1:c.1413G>T, XR_007059184.1:n.1949G>T, XM_047418022.1:c.1413G>T, XM_047418017.1:c.1413G>T

                                  17.

                                  rs1484620516 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:27549923 (GRCh38)
                                    1:27876434 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:27549922:T:C
                                    Gene:
                                    AHDC1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.27549923T>C, NC_000001.10:g.27876434T>C, NG_034158.1:g.58572A>G, NM_001029882.3:c.2193A>G, NM_001029882.2:c.2193A>G, NM_001371928.1:c.2193A>G, XM_005245850.4:c.2193A>G, XM_005245850.3:c.2193A>G, XM_005245850.2:c.2193A>G, XM_005245850.1:c.2193A>G, XM_005245849.4:c.2193A>G, XM_005245849.3:c.2193A>G, XM_005245849.2:c.2193A>G, XM_005245849.1:c.2193A>G, XM_005245851.4:c.2193A>G, XM_005245851.3:c.2193A>G, XM_005245851.2:c.2193A>G, XM_005245851.1:c.2193A>G, XM_005245852.4:c.2193A>G, XM_005245852.3:c.2193A>G, XM_005245852.2:c.2193A>G, XM_005245852.1:c.2193A>G, XM_011541257.3:c.2193A>G, XM_011541257.2:c.2193A>G, XM_011541257.1:c.2193A>G, XM_011541256.3:c.2193A>G, XM_011541256.2:c.2193A>G, XM_011541256.1:c.2193A>G, XM_011541255.2:c.2193A>G, XM_011541255.1:c.2193A>G, XM_047418020.1:c.2193A>G, XR_007059183.1:n.4376A>G, XM_047418015.1:c.2193A>G, XM_047418010.1:c.2193A>G, XM_047418016.1:c.2193A>G, XM_047418012.1:c.2193A>G, XM_047418011.1:c.2193A>G, XM_047418014.1:c.2193A>G, XM_047418013.1:c.2193A>G, XM_047418021.1:c.2193A>G, XM_047418023.1:c.2193A>G, XR_007059182.1:n.2947A>G, XM_047418019.1:c.2193A>G, XM_047418018.1:c.2193A>G, XR_007059184.1:n.2729A>G, XM_047418022.1:c.2193A>G, XM_047418017.1:c.2193A>G

                                    18.

                                    rs1484151834 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:27549149 (GRCh38)
                                      1:27875660 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:27549148:G:A
                                      Gene:
                                      AHDC1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.27549149G>A, NC_000001.10:g.27875660G>A, NG_034158.1:g.59346C>T, NM_001029882.3:c.2967C>T, NM_001029882.2:c.2967C>T, NM_001371928.1:c.2967C>T, XM_005245850.4:c.2967C>T, XM_005245850.3:c.2967C>T, XM_005245850.2:c.2967C>T, XM_005245850.1:c.2967C>T, XM_005245849.4:c.2967C>T, XM_005245849.3:c.2967C>T, XM_005245849.2:c.2967C>T, XM_005245849.1:c.2967C>T, XM_005245851.4:c.2967C>T, XM_005245851.3:c.2967C>T, XM_005245851.2:c.2967C>T, XM_005245851.1:c.2967C>T, XM_005245852.4:c.2967C>T, XM_005245852.3:c.2967C>T, XM_005245852.2:c.2967C>T, XM_005245852.1:c.2967C>T, XM_011541257.3:c.2967C>T, XM_011541257.2:c.2967C>T, XM_011541257.1:c.2967C>T, XM_011541256.3:c.2967C>T, XM_011541256.2:c.2967C>T, XM_011541256.1:c.2967C>T, XM_011541255.2:c.2967C>T, XM_011541255.1:c.2967C>T, XM_047418020.1:c.2967C>T, XR_007059183.1:n.5150C>T, XM_047418015.1:c.2967C>T, XM_047418010.1:c.2967C>T, XM_047418016.1:c.2967C>T, XM_047418012.1:c.2967C>T, XM_047418011.1:c.2967C>T, XM_047418014.1:c.2967C>T, XM_047418013.1:c.2967C>T, XM_047418021.1:c.2967C>T, XM_047418023.1:c.2967C>T, XR_007059182.1:n.3721C>T, XM_047418019.1:c.2967C>T, XM_047418018.1:c.2967C>T, XR_007059184.1:n.3503C>T, XM_047418022.1:c.2967C>T, XM_047418017.1:c.2967C>T

                                      19.

                                      rs1483598119 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:27549199 (GRCh38)
                                        1:27875710 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:27549198:C:T
                                        Gene:
                                        AHDC1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.27549199C>T, NC_000001.10:g.27875710C>T, NG_034158.1:g.59296G>A, NM_001029882.3:c.2917G>A, NM_001029882.2:c.2917G>A, NM_001371928.1:c.2917G>A, XM_005245850.4:c.2917G>A, XM_005245850.3:c.2917G>A, XM_005245850.2:c.2917G>A, XM_005245850.1:c.2917G>A, XM_005245849.4:c.2917G>A, XM_005245849.3:c.2917G>A, XM_005245849.2:c.2917G>A, XM_005245849.1:c.2917G>A, XM_005245851.4:c.2917G>A, XM_005245851.3:c.2917G>A, XM_005245851.2:c.2917G>A, XM_005245851.1:c.2917G>A, XM_005245852.4:c.2917G>A, XM_005245852.3:c.2917G>A, XM_005245852.2:c.2917G>A, XM_005245852.1:c.2917G>A, XM_011541257.3:c.2917G>A, XM_011541257.2:c.2917G>A, XM_011541257.1:c.2917G>A, XM_011541256.3:c.2917G>A, XM_011541256.2:c.2917G>A, XM_011541256.1:c.2917G>A, XM_011541255.2:c.2917G>A, XM_011541255.1:c.2917G>A, XM_047418020.1:c.2917G>A, XR_007059183.1:n.5100G>A, XM_047418015.1:c.2917G>A, XM_047418010.1:c.2917G>A, XM_047418016.1:c.2917G>A, XM_047418012.1:c.2917G>A, XM_047418011.1:c.2917G>A, XM_047418014.1:c.2917G>A, XM_047418013.1:c.2917G>A, XM_047418021.1:c.2917G>A, XM_047418023.1:c.2917G>A, XR_007059182.1:n.3671G>A, XM_047418019.1:c.2917G>A, XM_047418018.1:c.2917G>A, XR_007059184.1:n.3453G>A, XM_047418022.1:c.2917G>A, XM_047418017.1:c.2917G>A, NP_001025053.1:p.Gly973Ser, NP_001358857.1:p.Gly973Ser, XP_005245907.1:p.Gly973Ser, XP_005245906.1:p.Gly973Ser, XP_005245908.1:p.Gly973Ser, XP_005245909.1:p.Gly973Ser, XP_011539559.1:p.Gly973Ser, XP_011539558.1:p.Gly973Ser, XP_011539557.1:p.Gly973Ser, XP_047273976.1:p.Gly973Ser, XP_047273971.1:p.Gly973Ser, XP_047273966.1:p.Gly973Ser, XP_047273972.1:p.Gly973Ser, XP_047273968.1:p.Gly973Ser, XP_047273967.1:p.Gly973Ser, XP_047273970.1:p.Gly973Ser, XP_047273969.1:p.Gly973Ser, XP_047273977.1:p.Gly973Ser, XP_047273979.1:p.Gly973Ser, XP_047273975.1:p.Gly973Ser, XP_047273974.1:p.Gly973Ser, XP_047273978.1:p.Gly973Ser, XP_047273973.1:p.Gly973Ser

                                        20.

                                        rs1482885443 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:27550118 (GRCh38)
                                          1:27876629 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:27550117:C:T
                                          Gene:
                                          AHDC1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                          HGVS:
                                          NC_000001.11:g.27550118C>T, NC_000001.10:g.27876629C>T, NG_034158.1:g.58377G>A, NM_001029882.3:c.1998G>A, NM_001029882.2:c.1998G>A, NM_001371928.1:c.1998G>A, XM_005245850.4:c.1998G>A, XM_005245850.3:c.1998G>A, XM_005245850.2:c.1998G>A, XM_005245850.1:c.1998G>A, XM_005245849.4:c.1998G>A, XM_005245849.3:c.1998G>A, XM_005245849.2:c.1998G>A, XM_005245849.1:c.1998G>A, XM_005245851.4:c.1998G>A, XM_005245851.3:c.1998G>A, XM_005245851.2:c.1998G>A, XM_005245851.1:c.1998G>A, XM_005245852.4:c.1998G>A, XM_005245852.3:c.1998G>A, XM_005245852.2:c.1998G>A, XM_005245852.1:c.1998G>A, XM_011541257.3:c.1998G>A, XM_011541257.2:c.1998G>A, XM_011541257.1:c.1998G>A, XM_011541256.3:c.1998G>A, XM_011541256.2:c.1998G>A, XM_011541256.1:c.1998G>A, XM_011541255.2:c.1998G>A, XM_011541255.1:c.1998G>A, XM_047418020.1:c.1998G>A, XR_007059183.1:n.4181G>A, XM_047418015.1:c.1998G>A, XM_047418010.1:c.1998G>A, XM_047418016.1:c.1998G>A, XM_047418012.1:c.1998G>A, XM_047418011.1:c.1998G>A, XM_047418014.1:c.1998G>A, XM_047418013.1:c.1998G>A, XM_047418021.1:c.1998G>A, XM_047418023.1:c.1998G>A, XR_007059182.1:n.2752G>A, XM_047418019.1:c.1998G>A, XM_047418018.1:c.1998G>A, XR_007059184.1:n.2534G>A, XM_047418022.1:c.1998G>A, XM_047418017.1:c.1998G>A

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