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Items: 1 to 20 of 1923

1.

rs1490761156 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    18:9208661 (GRCh38)
    18:9208659 (GRCh37)
    Canonical SPDI:
    NC_000018.10:9208660:A:G
    Gene:
    ANKRD12 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    G=0.000007/1 (GnomAD)
    G=0.000011/3 (TOPMED)
    HGVS:
    NC_000018.10:g.9208661A>G, NC_000018.9:g.9208659A>G, NG_047134.1:g.76909A>G, NM_015208.5:c.309A>G, NM_015208.4:c.309A>G, NM_001083625.3:c.240A>G, NM_001083625.2:c.240A>G, NM_001204056.1:c.240A>G, XM_005258093.5:c.309A>G, XM_005258093.4:c.309A>G, XM_005258093.3:c.309A>G, XM_005258093.2:c.309A>G, XM_005258093.1:c.309A>G, XM_005258095.4:c.309A>G, XM_005258095.3:c.309A>G, XM_005258095.2:c.309A>G, XM_005258095.1:c.309A>G, XM_005258096.4:c.240A>G, XM_005258096.3:c.240A>G, XM_005258096.2:c.240A>G, XM_005258096.1:c.240A>G, XM_011525638.4:c.309A>G, XM_011525638.3:c.309A>G, XM_011525638.2:c.309A>G, XM_011525638.1:c.309A>G, XM_017025661.3:c.309A>G, XM_017025661.2:c.309A>G, XM_017025661.1:c.309A>G, XM_017025662.3:c.309A>G, XM_017025662.2:c.309A>G, XM_017025662.1:c.309A>G, XM_017025663.3:c.240A>G, XM_017025663.2:c.240A>G, XM_017025663.1:c.240A>G, XM_017025664.3:c.240A>G, XM_017025664.2:c.240A>G, XM_017025664.1:c.240A>G, XM_017025666.3:c.240A>G, XM_017025666.2:c.240A>G, XM_017025666.1:c.240A>G, XM_024451107.2:c.309A>G, XM_024451107.1:c.309A>G, XM_047437385.1:c.309A>G, XM_047437389.1:c.240A>G, XM_047437386.1:c.309A>G, XM_047437387.1:c.309A>G, XM_047437388.1:c.240A>G, XM_047437391.1:c.240A>G, XM_047437390.1:c.240A>G

    2.

    rs1490361271 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      18:9258014 (GRCh38)
      18:9258012 (GRCh37)
      Canonical SPDI:
      NC_000018.10:9258013:C:A
      Gene:
      ANKRD12 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000018.10:g.9258014C>A, NC_000018.9:g.9258012C>A, NG_047134.1:g.126262C>A, NM_015208.5:c.4747C>A, NM_015208.4:c.4747C>A, NM_001083625.3:c.4678C>A, NM_001083625.2:c.4678C>A, NM_001204056.1:c.4678C>A, XM_005258093.5:c.4747C>A, XM_005258093.4:c.4747C>A, XM_005258093.3:c.4747C>A, XM_005258093.2:c.4747C>A, XM_005258093.1:c.4747C>A, XM_005258095.4:c.4741C>A, XM_005258095.3:c.4741C>A, XM_005258095.2:c.4741C>A, XM_005258095.1:c.4741C>A, XM_005258096.4:c.4672C>A, XM_005258096.3:c.4672C>A, XM_005258096.2:c.4672C>A, XM_005258096.1:c.4672C>A, XM_011525638.4:c.4747C>A, XM_011525638.3:c.4747C>A, XM_011525638.2:c.4747C>A, XM_011525638.1:c.4747C>A, XM_017025661.3:c.4741C>A, XM_017025661.2:c.4741C>A, XM_017025661.1:c.4741C>A, XM_017025662.3:c.4741C>A, XM_017025662.2:c.4741C>A, XM_017025662.1:c.4741C>A, XM_017025663.3:c.4678C>A, XM_017025663.2:c.4678C>A, XM_017025663.1:c.4678C>A, XM_017025664.3:c.4672C>A, XM_017025664.2:c.4672C>A, XM_017025664.1:c.4672C>A, XM_017025666.3:c.4672C>A, XM_017025666.2:c.4672C>A, XM_017025666.1:c.4672C>A, XM_017025669.3:c.3868C>A, XM_017025669.2:c.3868C>A, XM_017025669.1:c.3868C>A, XM_024451107.2:c.4747C>A, XM_024451107.1:c.4747C>A, XM_047437385.1:c.4747C>A, XM_047437389.1:c.4678C>A, XM_047437386.1:c.4747C>A, XM_047437387.1:c.4741C>A, XM_047437388.1:c.4678C>A, XM_047437391.1:c.4672C>A, XM_047437390.1:c.4678C>A, XM_047437392.1:c.3868C>A, NP_056023.3:p.Pro1583Thr, NP_001077094.1:p.Pro1560Thr, NP_001190985.1:p.Pro1560Thr, XP_005258150.1:p.Pro1583Thr, XP_005258152.1:p.Pro1581Thr, XP_005258153.1:p.Pro1558Thr, XP_011523940.1:p.Pro1583Thr, XP_016881150.1:p.Pro1581Thr, XP_016881151.1:p.Pro1581Thr, XP_016881152.1:p.Pro1560Thr, XP_016881153.1:p.Pro1558Thr, XP_016881155.1:p.Pro1558Thr, XP_016881158.1:p.Pro1290Thr, XP_024306875.1:p.Pro1583Thr, XP_047293341.1:p.Pro1583Thr, XP_047293345.1:p.Pro1560Thr, XP_047293342.1:p.Pro1583Thr, XP_047293343.1:p.Pro1581Thr, XP_047293344.1:p.Pro1560Thr, XP_047293347.1:p.Pro1558Thr, XP_047293346.1:p.Pro1560Thr, XP_047293348.1:p.Pro1290Thr

      3.

      rs1489692011 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        18:9256750 (GRCh38)
        18:9256748 (GRCh37)
        Canonical SPDI:
        NC_000018.10:9256749:T:A
        Gene:
        ANKRD12 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0.000047/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000018.10:g.9256750T>A, NC_000018.9:g.9256748T>A, NG_047134.1:g.124998T>A, NM_015208.5:c.3483T>A, NM_015208.4:c.3483T>A, NM_001083625.3:c.3414T>A, NM_001083625.2:c.3414T>A, NM_001204056.1:c.3414T>A, XM_005258093.5:c.3483T>A, XM_005258093.4:c.3483T>A, XM_005258093.3:c.3483T>A, XM_005258093.2:c.3483T>A, XM_005258093.1:c.3483T>A, XM_005258095.4:c.3477T>A, XM_005258095.3:c.3477T>A, XM_005258095.2:c.3477T>A, XM_005258095.1:c.3477T>A, XM_005258096.4:c.3408T>A, XM_005258096.3:c.3408T>A, XM_005258096.2:c.3408T>A, XM_005258096.1:c.3408T>A, XM_011525638.4:c.3483T>A, XM_011525638.3:c.3483T>A, XM_011525638.2:c.3483T>A, XM_011525638.1:c.3483T>A, XM_017025661.3:c.3477T>A, XM_017025661.2:c.3477T>A, XM_017025661.1:c.3477T>A, XM_017025662.3:c.3477T>A, XM_017025662.2:c.3477T>A, XM_017025662.1:c.3477T>A, XM_017025663.3:c.3414T>A, XM_017025663.2:c.3414T>A, XM_017025663.1:c.3414T>A, XM_017025664.3:c.3408T>A, XM_017025664.2:c.3408T>A, XM_017025664.1:c.3408T>A, XM_017025666.3:c.3408T>A, XM_017025666.2:c.3408T>A, XM_017025666.1:c.3408T>A, XM_017025669.3:c.2604T>A, XM_017025669.2:c.2604T>A, XM_017025669.1:c.2604T>A, XM_024451107.2:c.3483T>A, XM_024451107.1:c.3483T>A, XM_047437385.1:c.3483T>A, XM_047437389.1:c.3414T>A, XM_047437386.1:c.3483T>A, XM_047437387.1:c.3477T>A, XM_047437388.1:c.3414T>A, XM_047437391.1:c.3408T>A, XM_047437390.1:c.3414T>A, XM_047437392.1:c.2604T>A, NP_056023.3:p.Ser1161Arg, NP_001077094.1:p.Ser1138Arg, NP_001190985.1:p.Ser1138Arg, XP_005258150.1:p.Ser1161Arg, XP_005258152.1:p.Ser1159Arg, XP_005258153.1:p.Ser1136Arg, XP_011523940.1:p.Ser1161Arg, XP_016881150.1:p.Ser1159Arg, XP_016881151.1:p.Ser1159Arg, XP_016881152.1:p.Ser1138Arg, XP_016881153.1:p.Ser1136Arg, XP_016881155.1:p.Ser1136Arg, XP_016881158.1:p.Ser868Arg, XP_024306875.1:p.Ser1161Arg, XP_047293341.1:p.Ser1161Arg, XP_047293345.1:p.Ser1138Arg, XP_047293342.1:p.Ser1161Arg, XP_047293343.1:p.Ser1159Arg, XP_047293344.1:p.Ser1138Arg, XP_047293347.1:p.Ser1136Arg, XP_047293346.1:p.Ser1138Arg, XP_047293348.1:p.Ser868Arg

        4.

        rs1488147813 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          18:9257670 (GRCh38)
          18:9257668 (GRCh37)
          Canonical SPDI:
          NC_000018.10:9257669:T:C
          Gene:
          ANKRD12 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000018.10:g.9257670T>C, NC_000018.9:g.9257668T>C, NG_047134.1:g.125918T>C, NM_015208.5:c.4403T>C, NM_015208.4:c.4403T>C, NM_001083625.3:c.4334T>C, NM_001083625.2:c.4334T>C, NM_001204056.1:c.4334T>C, XM_005258093.5:c.4403T>C, XM_005258093.4:c.4403T>C, XM_005258093.3:c.4403T>C, XM_005258093.2:c.4403T>C, XM_005258093.1:c.4403T>C, XM_005258095.4:c.4397T>C, XM_005258095.3:c.4397T>C, XM_005258095.2:c.4397T>C, XM_005258095.1:c.4397T>C, XM_005258096.4:c.4328T>C, XM_005258096.3:c.4328T>C, XM_005258096.2:c.4328T>C, XM_005258096.1:c.4328T>C, XM_011525638.4:c.4403T>C, XM_011525638.3:c.4403T>C, XM_011525638.2:c.4403T>C, XM_011525638.1:c.4403T>C, XM_017025661.3:c.4397T>C, XM_017025661.2:c.4397T>C, XM_017025661.1:c.4397T>C, XM_017025662.3:c.4397T>C, XM_017025662.2:c.4397T>C, XM_017025662.1:c.4397T>C, XM_017025663.3:c.4334T>C, XM_017025663.2:c.4334T>C, XM_017025663.1:c.4334T>C, XM_017025664.3:c.4328T>C, XM_017025664.2:c.4328T>C, XM_017025664.1:c.4328T>C, XM_017025666.3:c.4328T>C, XM_017025666.2:c.4328T>C, XM_017025666.1:c.4328T>C, XM_017025669.3:c.3524T>C, XM_017025669.2:c.3524T>C, XM_017025669.1:c.3524T>C, XM_024451107.2:c.4403T>C, XM_024451107.1:c.4403T>C, XM_047437385.1:c.4403T>C, XM_047437389.1:c.4334T>C, XM_047437386.1:c.4403T>C, XM_047437387.1:c.4397T>C, XM_047437388.1:c.4334T>C, XM_047437391.1:c.4328T>C, XM_047437390.1:c.4334T>C, XM_047437392.1:c.3524T>C, NP_056023.3:p.Leu1468Pro, NP_001077094.1:p.Leu1445Pro, NP_001190985.1:p.Leu1445Pro, XP_005258150.1:p.Leu1468Pro, XP_005258152.1:p.Leu1466Pro, XP_005258153.1:p.Leu1443Pro, XP_011523940.1:p.Leu1468Pro, XP_016881150.1:p.Leu1466Pro, XP_016881151.1:p.Leu1466Pro, XP_016881152.1:p.Leu1445Pro, XP_016881153.1:p.Leu1443Pro, XP_016881155.1:p.Leu1443Pro, XP_016881158.1:p.Leu1175Pro, XP_024306875.1:p.Leu1468Pro, XP_047293341.1:p.Leu1468Pro, XP_047293345.1:p.Leu1445Pro, XP_047293342.1:p.Leu1468Pro, XP_047293343.1:p.Leu1466Pro, XP_047293344.1:p.Leu1445Pro, XP_047293347.1:p.Leu1443Pro, XP_047293346.1:p.Leu1445Pro, XP_047293348.1:p.Leu1175Pro

          5.

          rs1487916944 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            18:9255235 (GRCh38)
            18:9255233 (GRCh37)
            Canonical SPDI:
            NC_000018.10:9255234:G:A
            Gene:
            ANKRD12 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000018.10:g.9255235G>A, NC_000018.9:g.9255233G>A, NG_047134.1:g.123483G>A, NM_015208.5:c.1968G>A, NM_015208.4:c.1968G>A, NM_001083625.3:c.1899G>A, NM_001083625.2:c.1899G>A, NM_001204056.1:c.1899G>A, XM_005258093.5:c.1968G>A, XM_005258093.4:c.1968G>A, XM_005258093.3:c.1968G>A, XM_005258093.2:c.1968G>A, XM_005258093.1:c.1968G>A, XM_005258095.4:c.1962G>A, XM_005258095.3:c.1962G>A, XM_005258095.2:c.1962G>A, XM_005258095.1:c.1962G>A, XM_005258096.4:c.1893G>A, XM_005258096.3:c.1893G>A, XM_005258096.2:c.1893G>A, XM_005258096.1:c.1893G>A, XM_011525638.4:c.1968G>A, XM_011525638.3:c.1968G>A, XM_011525638.2:c.1968G>A, XM_011525638.1:c.1968G>A, XM_017025661.3:c.1962G>A, XM_017025661.2:c.1962G>A, XM_017025661.1:c.1962G>A, XM_017025662.3:c.1962G>A, XM_017025662.2:c.1962G>A, XM_017025662.1:c.1962G>A, XM_017025663.3:c.1899G>A, XM_017025663.2:c.1899G>A, XM_017025663.1:c.1899G>A, XM_017025664.3:c.1893G>A, XM_017025664.2:c.1893G>A, XM_017025664.1:c.1893G>A, XM_017025666.3:c.1893G>A, XM_017025666.2:c.1893G>A, XM_017025666.1:c.1893G>A, XM_017025669.3:c.1089G>A, XM_017025669.2:c.1089G>A, XM_017025669.1:c.1089G>A, XM_024451107.2:c.1968G>A, XM_024451107.1:c.1968G>A, XM_047437385.1:c.1968G>A, XM_047437389.1:c.1899G>A, XM_047437386.1:c.1968G>A, XM_047437387.1:c.1962G>A, XM_047437388.1:c.1899G>A, XM_047437391.1:c.1893G>A, XM_047437390.1:c.1899G>A, XM_047437392.1:c.1089G>A

            6.

            rs1487849710 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              18:9254296 (GRCh38)
              18:9254294 (GRCh37)
              Canonical SPDI:
              NC_000018.10:9254295:A:G
              Gene:
              ANKRD12 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000018.10:g.9254296A>G, NC_000018.9:g.9254294A>G, NG_047134.1:g.122544A>G, NM_015208.5:c.1029A>G, NM_015208.4:c.1029A>G, NM_001083625.3:c.960A>G, NM_001083625.2:c.960A>G, NM_001204056.1:c.960A>G, XM_005258093.5:c.1029A>G, XM_005258093.4:c.1029A>G, XM_005258093.3:c.1029A>G, XM_005258093.2:c.1029A>G, XM_005258093.1:c.1029A>G, XM_005258095.4:c.1023A>G, XM_005258095.3:c.1023A>G, XM_005258095.2:c.1023A>G, XM_005258095.1:c.1023A>G, XM_005258096.4:c.954A>G, XM_005258096.3:c.954A>G, XM_005258096.2:c.954A>G, XM_005258096.1:c.954A>G, XM_011525638.4:c.1029A>G, XM_011525638.3:c.1029A>G, XM_011525638.2:c.1029A>G, XM_011525638.1:c.1029A>G, XM_017025661.3:c.1023A>G, XM_017025661.2:c.1023A>G, XM_017025661.1:c.1023A>G, XM_017025662.3:c.1023A>G, XM_017025662.2:c.1023A>G, XM_017025662.1:c.1023A>G, XM_017025663.3:c.960A>G, XM_017025663.2:c.960A>G, XM_017025663.1:c.960A>G, XM_017025664.3:c.954A>G, XM_017025664.2:c.954A>G, XM_017025664.1:c.954A>G, XM_017025666.3:c.954A>G, XM_017025666.2:c.954A>G, XM_017025666.1:c.954A>G, XM_017025669.3:c.150A>G, XM_017025669.2:c.150A>G, XM_017025669.1:c.150A>G, XM_024451107.2:c.1029A>G, XM_024451107.1:c.1029A>G, XM_047437385.1:c.1029A>G, XM_047437389.1:c.960A>G, XM_047437386.1:c.1029A>G, XM_047437387.1:c.1023A>G, XM_047437388.1:c.960A>G, XM_047437391.1:c.954A>G, XM_047437390.1:c.960A>G, XM_047437392.1:c.150A>G

              7.

              rs1487608988 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                18:9182518 (GRCh38)
                18:9182516 (GRCh37)
                Canonical SPDI:
                NC_000018.10:9182517:A:C
                Gene:
                ANKRD12 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000018.10:g.9182518A>C, NC_000018.9:g.9182516A>C, NG_047134.1:g.50766A>C, NM_015208.5:c.86A>C, NM_015208.4:c.86A>C, NM_001083625.3:c.86A>C, NM_001083625.2:c.86A>C, NM_001204056.1:c.86A>C, XM_005258093.5:c.86A>C, XM_005258093.4:c.86A>C, XM_005258093.3:c.86A>C, XM_005258093.2:c.86A>C, XM_005258093.1:c.86A>C, XM_005258095.4:c.86A>C, XM_005258095.3:c.86A>C, XM_005258095.2:c.86A>C, XM_005258095.1:c.86A>C, XM_005258096.4:c.86A>C, XM_005258096.3:c.86A>C, XM_005258096.2:c.86A>C, XM_005258096.1:c.86A>C, XM_011525638.4:c.86A>C, XM_011525638.3:c.86A>C, XM_011525638.2:c.86A>C, XM_011525638.1:c.86A>C, XM_017025661.3:c.86A>C, XM_017025661.2:c.86A>C, XM_017025661.1:c.86A>C, XM_017025662.3:c.86A>C, XM_017025662.2:c.86A>C, XM_017025662.1:c.86A>C, XM_017025663.3:c.86A>C, XM_017025663.2:c.86A>C, XM_017025663.1:c.86A>C, XM_017025664.3:c.86A>C, XM_017025664.2:c.86A>C, XM_017025664.1:c.86A>C, XM_017025666.3:c.86A>C, XM_017025666.2:c.86A>C, XM_017025666.1:c.86A>C, XM_024451107.2:c.86A>C, XM_024451107.1:c.86A>C, XM_047437385.1:c.86A>C, XM_047437389.1:c.86A>C, XM_047437386.1:c.86A>C, XM_047437387.1:c.86A>C, XM_047437388.1:c.86A>C, XM_047437391.1:c.86A>C, XM_047437390.1:c.86A>C, NP_056023.3:p.Lys29Thr, NP_001077094.1:p.Lys29Thr, NP_001190985.1:p.Lys29Thr, XP_005258150.1:p.Lys29Thr, XP_005258152.1:p.Lys29Thr, XP_005258153.1:p.Lys29Thr, XP_011523940.1:p.Lys29Thr, XP_016881150.1:p.Lys29Thr, XP_016881151.1:p.Lys29Thr, XP_016881152.1:p.Lys29Thr, XP_016881153.1:p.Lys29Thr, XP_016881155.1:p.Lys29Thr, XP_024306875.1:p.Lys29Thr, XP_047293341.1:p.Lys29Thr, XP_047293345.1:p.Lys29Thr, XP_047293342.1:p.Lys29Thr, XP_047293343.1:p.Lys29Thr, XP_047293344.1:p.Lys29Thr, XP_047293347.1:p.Lys29Thr, XP_047293346.1:p.Lys29Thr

                8.

                rs1487593395 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  18:9255587 (GRCh38)
                  18:9255585 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:9255586:A:C,NC_000018.10:9255586:A:G
                  Gene:
                  ANKRD12 (Varview)
                  Functional Consequence:
                  missense_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000224/1 (ALFA)
                  C=0.000005/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  G=0.000223/1 (Estonian)
                  HGVS:
                  NC_000018.10:g.9255587A>C, NC_000018.10:g.9255587A>G, NC_000018.9:g.9255585A>C, NC_000018.9:g.9255585A>G, NG_047134.1:g.123835A>C, NG_047134.1:g.123835A>G, NM_015208.5:c.2320A>C, NM_015208.5:c.2320A>G, NM_015208.4:c.2320A>C, NM_015208.4:c.2320A>G, NM_001083625.3:c.2251A>C, NM_001083625.3:c.2251A>G, NM_001083625.2:c.2251A>C, NM_001083625.2:c.2251A>G, NM_001204056.1:c.2251A>C, NM_001204056.1:c.2251A>G, XM_005258093.5:c.2320A>C, XM_005258093.5:c.2320A>G, XM_005258093.4:c.2320A>C, XM_005258093.4:c.2320A>G, XM_005258093.3:c.2320A>C, XM_005258093.3:c.2320A>G, XM_005258093.2:c.2320A>C, XM_005258093.2:c.2320A>G, XM_005258093.1:c.2320A>C, XM_005258093.1:c.2320A>G, XM_005258095.4:c.2314A>C, XM_005258095.4:c.2314A>G, XM_005258095.3:c.2314A>C, XM_005258095.3:c.2314A>G, XM_005258095.2:c.2314A>C, XM_005258095.2:c.2314A>G, XM_005258095.1:c.2314A>C, XM_005258095.1:c.2314A>G, XM_005258096.4:c.2245A>C, XM_005258096.4:c.2245A>G, XM_005258096.3:c.2245A>C, XM_005258096.3:c.2245A>G, XM_005258096.2:c.2245A>C, XM_005258096.2:c.2245A>G, XM_005258096.1:c.2245A>C, XM_005258096.1:c.2245A>G, XM_011525638.4:c.2320A>C, XM_011525638.4:c.2320A>G, XM_011525638.3:c.2320A>C, XM_011525638.3:c.2320A>G, XM_011525638.2:c.2320A>C, XM_011525638.2:c.2320A>G, XM_011525638.1:c.2320A>C, XM_011525638.1:c.2320A>G, XM_017025661.3:c.2314A>C, XM_017025661.3:c.2314A>G, XM_017025661.2:c.2314A>C, XM_017025661.2:c.2314A>G, XM_017025661.1:c.2314A>C, XM_017025661.1:c.2314A>G, XM_017025662.3:c.2314A>C, XM_017025662.3:c.2314A>G, XM_017025662.2:c.2314A>C, XM_017025662.2:c.2314A>G, XM_017025662.1:c.2314A>C, XM_017025662.1:c.2314A>G, XM_017025663.3:c.2251A>C, XM_017025663.3:c.2251A>G, XM_017025663.2:c.2251A>C, XM_017025663.2:c.2251A>G, XM_017025663.1:c.2251A>C, XM_017025663.1:c.2251A>G, XM_017025664.3:c.2245A>C, XM_017025664.3:c.2245A>G, XM_017025664.2:c.2245A>C, XM_017025664.2:c.2245A>G, XM_017025664.1:c.2245A>C, XM_017025664.1:c.2245A>G, XM_017025666.3:c.2245A>C, XM_017025666.3:c.2245A>G, XM_017025666.2:c.2245A>C, XM_017025666.2:c.2245A>G, XM_017025666.1:c.2245A>C, XM_017025666.1:c.2245A>G, XM_017025669.3:c.1441A>C, XM_017025669.3:c.1441A>G, XM_017025669.2:c.1441A>C, XM_017025669.2:c.1441A>G, XM_017025669.1:c.1441A>C, XM_017025669.1:c.1441A>G, XM_024451107.2:c.2320A>C, XM_024451107.2:c.2320A>G, XM_024451107.1:c.2320A>C, XM_024451107.1:c.2320A>G, XM_047437385.1:c.2320A>C, XM_047437385.1:c.2320A>G, XM_047437389.1:c.2251A>C, XM_047437389.1:c.2251A>G, XM_047437386.1:c.2320A>C, XM_047437386.1:c.2320A>G, XM_047437387.1:c.2314A>C, XM_047437387.1:c.2314A>G, XM_047437388.1:c.2251A>C, XM_047437388.1:c.2251A>G, XM_047437391.1:c.2245A>C, XM_047437391.1:c.2245A>G, XM_047437390.1:c.2251A>C, XM_047437390.1:c.2251A>G, XM_047437392.1:c.1441A>C, XM_047437392.1:c.1441A>G, NP_056023.3:p.Arg774Gly, NP_001077094.1:p.Arg751Gly, NP_001190985.1:p.Arg751Gly, XP_005258150.1:p.Arg774Gly, XP_005258152.1:p.Arg772Gly, XP_005258153.1:p.Arg749Gly, XP_011523940.1:p.Arg774Gly, XP_016881150.1:p.Arg772Gly, XP_016881151.1:p.Arg772Gly, XP_016881152.1:p.Arg751Gly, XP_016881153.1:p.Arg749Gly, XP_016881155.1:p.Arg749Gly, XP_016881158.1:p.Arg481Gly, XP_024306875.1:p.Arg774Gly, XP_047293341.1:p.Arg774Gly, XP_047293345.1:p.Arg751Gly, XP_047293342.1:p.Arg774Gly, XP_047293343.1:p.Arg772Gly, XP_047293344.1:p.Arg751Gly, XP_047293347.1:p.Arg749Gly, XP_047293346.1:p.Arg751Gly, XP_047293348.1:p.Arg481Gly

                  9.

                  rs1487311519 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    18:9204536 (GRCh38)
                    18:9204534 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:9204535:C:T
                    Gene:
                    ANKRD12 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000018.10:g.9204536C>T, NC_000018.9:g.9204534C>T, NG_047134.1:g.72784C>T, NM_015208.5:c.296C>T, NM_015208.4:c.296C>T, XM_005258093.5:c.296C>T, XM_005258093.4:c.296C>T, XM_005258093.3:c.296C>T, XM_005258093.2:c.296C>T, XM_005258093.1:c.296C>T, XM_005258095.4:c.296C>T, XM_005258095.3:c.296C>T, XM_005258095.2:c.296C>T, XM_005258095.1:c.296C>T, XM_011525638.4:c.296C>T, XM_011525638.3:c.296C>T, XM_011525638.2:c.296C>T, XM_011525638.1:c.296C>T, XM_017025661.3:c.296C>T, XM_017025661.2:c.296C>T, XM_017025661.1:c.296C>T, XM_017025662.3:c.296C>T, XM_017025662.2:c.296C>T, XM_017025662.1:c.296C>T, XM_024451107.2:c.296C>T, XM_024451107.1:c.296C>T, XM_047437385.1:c.296C>T, XM_047437386.1:c.296C>T, XM_047437387.1:c.296C>T, NP_056023.3:p.Thr99Ile, XP_005258150.1:p.Thr99Ile, XP_005258152.1:p.Thr99Ile, XP_011523940.1:p.Thr99Ile, XP_016881150.1:p.Thr99Ile, XP_016881151.1:p.Thr99Ile, XP_024306875.1:p.Thr99Ile, XP_047293341.1:p.Thr99Ile, XP_047293342.1:p.Thr99Ile, XP_047293343.1:p.Thr99Ile

                    10.

                    rs1486190094 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      18:9258244 (GRCh38)
                      18:9258242 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:9258243:G:T
                      Gene:
                      ANKRD12 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.9258244G>T, NC_000018.9:g.9258242G>T, NG_047134.1:g.126492G>T, NM_015208.5:c.4977G>T, NM_015208.4:c.4977G>T, NM_001083625.3:c.4908G>T, NM_001083625.2:c.4908G>T, NM_001204056.1:c.4908G>T, XM_005258093.5:c.4977G>T, XM_005258093.4:c.4977G>T, XM_005258093.3:c.4977G>T, XM_005258093.2:c.4977G>T, XM_005258093.1:c.4977G>T, XM_005258095.4:c.4971G>T, XM_005258095.3:c.4971G>T, XM_005258095.2:c.4971G>T, XM_005258095.1:c.4971G>T, XM_005258096.4:c.4902G>T, XM_005258096.3:c.4902G>T, XM_005258096.2:c.4902G>T, XM_005258096.1:c.4902G>T, XM_011525638.4:c.4977G>T, XM_011525638.3:c.4977G>T, XM_011525638.2:c.4977G>T, XM_011525638.1:c.4977G>T, XM_017025661.3:c.4971G>T, XM_017025661.2:c.4971G>T, XM_017025661.1:c.4971G>T, XM_017025662.3:c.4971G>T, XM_017025662.2:c.4971G>T, XM_017025662.1:c.4971G>T, XM_017025663.3:c.4908G>T, XM_017025663.2:c.4908G>T, XM_017025663.1:c.4908G>T, XM_017025664.3:c.4902G>T, XM_017025664.2:c.4902G>T, XM_017025664.1:c.4902G>T, XM_017025666.3:c.4902G>T, XM_017025666.2:c.4902G>T, XM_017025666.1:c.4902G>T, XM_017025669.3:c.4098G>T, XM_017025669.2:c.4098G>T, XM_017025669.1:c.4098G>T, XM_024451107.2:c.4977G>T, XM_024451107.1:c.4977G>T, XM_047437385.1:c.4977G>T, XM_047437389.1:c.4908G>T, XM_047437386.1:c.4977G>T, XM_047437387.1:c.4971G>T, XM_047437388.1:c.4908G>T, XM_047437391.1:c.4902G>T, XM_047437390.1:c.4908G>T, XM_047437392.1:c.4098G>T, NP_056023.3:p.Met1659Ile, NP_001077094.1:p.Met1636Ile, NP_001190985.1:p.Met1636Ile, XP_005258150.1:p.Met1659Ile, XP_005258152.1:p.Met1657Ile, XP_005258153.1:p.Met1634Ile, XP_011523940.1:p.Met1659Ile, XP_016881150.1:p.Met1657Ile, XP_016881151.1:p.Met1657Ile, XP_016881152.1:p.Met1636Ile, XP_016881153.1:p.Met1634Ile, XP_016881155.1:p.Met1634Ile, XP_016881158.1:p.Met1366Ile, XP_024306875.1:p.Met1659Ile, XP_047293341.1:p.Met1659Ile, XP_047293345.1:p.Met1636Ile, XP_047293342.1:p.Met1659Ile, XP_047293343.1:p.Met1657Ile, XP_047293344.1:p.Met1636Ile, XP_047293347.1:p.Met1634Ile, XP_047293346.1:p.Met1636Ile, XP_047293348.1:p.Met1366Ile

                      11.

                      rs1485573332 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        18:9257938 (GRCh38)
                        18:9257936 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:9257937:A:G
                        Gene:
                        ANKRD12 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        G=0.000015/4 (TOPMED)
                        HGVS:
                        NC_000018.10:g.9257938A>G, NC_000018.9:g.9257936A>G, NG_047134.1:g.126186A>G, NM_015208.5:c.4671A>G, NM_015208.4:c.4671A>G, NM_001083625.3:c.4602A>G, NM_001083625.2:c.4602A>G, NM_001204056.1:c.4602A>G, XM_005258093.5:c.4671A>G, XM_005258093.4:c.4671A>G, XM_005258093.3:c.4671A>G, XM_005258093.2:c.4671A>G, XM_005258093.1:c.4671A>G, XM_005258095.4:c.4665A>G, XM_005258095.3:c.4665A>G, XM_005258095.2:c.4665A>G, XM_005258095.1:c.4665A>G, XM_005258096.4:c.4596A>G, XM_005258096.3:c.4596A>G, XM_005258096.2:c.4596A>G, XM_005258096.1:c.4596A>G, XM_011525638.4:c.4671A>G, XM_011525638.3:c.4671A>G, XM_011525638.2:c.4671A>G, XM_011525638.1:c.4671A>G, XM_017025661.3:c.4665A>G, XM_017025661.2:c.4665A>G, XM_017025661.1:c.4665A>G, XM_017025662.3:c.4665A>G, XM_017025662.2:c.4665A>G, XM_017025662.1:c.4665A>G, XM_017025663.3:c.4602A>G, XM_017025663.2:c.4602A>G, XM_017025663.1:c.4602A>G, XM_017025664.3:c.4596A>G, XM_017025664.2:c.4596A>G, XM_017025664.1:c.4596A>G, XM_017025666.3:c.4596A>G, XM_017025666.2:c.4596A>G, XM_017025666.1:c.4596A>G, XM_017025669.3:c.3792A>G, XM_017025669.2:c.3792A>G, XM_017025669.1:c.3792A>G, XM_024451107.2:c.4671A>G, XM_024451107.1:c.4671A>G, XM_047437385.1:c.4671A>G, XM_047437389.1:c.4602A>G, XM_047437386.1:c.4671A>G, XM_047437387.1:c.4665A>G, XM_047437388.1:c.4602A>G, XM_047437391.1:c.4596A>G, XM_047437390.1:c.4602A>G, XM_047437392.1:c.3792A>G

                        12.

                        rs1485510446 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          18:9257066 (GRCh38)
                          18:9257064 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:9257065:G:A
                          Gene:
                          ANKRD12 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000066/1 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          A=0.000446/2 (Estonian)
                          HGVS:
                          NC_000018.10:g.9257066G>A, NC_000018.9:g.9257064G>A, NG_047134.1:g.125314G>A, NM_015208.5:c.3799G>A, NM_015208.4:c.3799G>A, NM_001083625.3:c.3730G>A, NM_001083625.2:c.3730G>A, NM_001204056.1:c.3730G>A, XM_005258093.5:c.3799G>A, XM_005258093.4:c.3799G>A, XM_005258093.3:c.3799G>A, XM_005258093.2:c.3799G>A, XM_005258093.1:c.3799G>A, XM_005258095.4:c.3793G>A, XM_005258095.3:c.3793G>A, XM_005258095.2:c.3793G>A, XM_005258095.1:c.3793G>A, XM_005258096.4:c.3724G>A, XM_005258096.3:c.3724G>A, XM_005258096.2:c.3724G>A, XM_005258096.1:c.3724G>A, XM_011525638.4:c.3799G>A, XM_011525638.3:c.3799G>A, XM_011525638.2:c.3799G>A, XM_011525638.1:c.3799G>A, XM_017025661.3:c.3793G>A, XM_017025661.2:c.3793G>A, XM_017025661.1:c.3793G>A, XM_017025662.3:c.3793G>A, XM_017025662.2:c.3793G>A, XM_017025662.1:c.3793G>A, XM_017025663.3:c.3730G>A, XM_017025663.2:c.3730G>A, XM_017025663.1:c.3730G>A, XM_017025664.3:c.3724G>A, XM_017025664.2:c.3724G>A, XM_017025664.1:c.3724G>A, XM_017025666.3:c.3724G>A, XM_017025666.2:c.3724G>A, XM_017025666.1:c.3724G>A, XM_017025669.3:c.2920G>A, XM_017025669.2:c.2920G>A, XM_017025669.1:c.2920G>A, XM_024451107.2:c.3799G>A, XM_024451107.1:c.3799G>A, XM_047437385.1:c.3799G>A, XM_047437389.1:c.3730G>A, XM_047437386.1:c.3799G>A, XM_047437387.1:c.3793G>A, XM_047437388.1:c.3730G>A, XM_047437391.1:c.3724G>A, XM_047437390.1:c.3730G>A, XM_047437392.1:c.2920G>A, NP_056023.3:p.Ala1267Thr, NP_001077094.1:p.Ala1244Thr, NP_001190985.1:p.Ala1244Thr, XP_005258150.1:p.Ala1267Thr, XP_005258152.1:p.Ala1265Thr, XP_005258153.1:p.Ala1242Thr, XP_011523940.1:p.Ala1267Thr, XP_016881150.1:p.Ala1265Thr, XP_016881151.1:p.Ala1265Thr, XP_016881152.1:p.Ala1244Thr, XP_016881153.1:p.Ala1242Thr, XP_016881155.1:p.Ala1242Thr, XP_016881158.1:p.Ala974Thr, XP_024306875.1:p.Ala1267Thr, XP_047293341.1:p.Ala1267Thr, XP_047293345.1:p.Ala1244Thr, XP_047293342.1:p.Ala1267Thr, XP_047293343.1:p.Ala1265Thr, XP_047293344.1:p.Ala1244Thr, XP_047293347.1:p.Ala1242Thr, XP_047293346.1:p.Ala1244Thr, XP_047293348.1:p.Ala974Thr

                          13.

                          rs1485489385 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            18:9279611 (GRCh38)
                            18:9279609 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:9279610:A:G
                            Gene:
                            ANKRD12 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000018.10:g.9279611A>G, NC_000018.9:g.9279609A>G, NG_047134.1:g.147859A>G, NM_015208.5:c.5970A>G, NM_015208.4:c.5970A>G, NM_001083625.3:c.5901A>G, NM_001083625.2:c.5901A>G, NM_001204056.1:c.5901A>G, XM_005258093.5:c.5970A>G, XM_005258093.4:c.5970A>G, XM_005258093.3:c.5970A>G, XM_005258093.2:c.5970A>G, XM_005258093.1:c.5970A>G, XM_005258095.4:c.5964A>G, XM_005258095.3:c.5964A>G, XM_005258095.2:c.5964A>G, XM_005258095.1:c.5964A>G, XM_005258096.4:c.5895A>G, XM_005258096.3:c.5895A>G, XM_005258096.2:c.5895A>G, XM_005258096.1:c.5895A>G, XM_017025661.3:c.5964A>G, XM_017025661.2:c.5964A>G, XM_017025661.1:c.5964A>G, XM_017025662.3:c.5964A>G, XM_017025662.2:c.5964A>G, XM_017025662.1:c.5964A>G, XM_017025663.3:c.5901A>G, XM_017025663.2:c.5901A>G, XM_017025663.1:c.5901A>G, XM_017025664.3:c.5895A>G, XM_017025664.2:c.5895A>G, XM_017025664.1:c.5895A>G, XM_017025666.3:c.5895A>G, XM_017025666.2:c.5895A>G, XM_017025666.1:c.5895A>G, XM_017025669.3:c.5091A>G, XM_017025669.2:c.5091A>G, XM_017025669.1:c.5091A>G, XM_024451107.2:c.5970A>G, XM_024451107.1:c.5970A>G, XM_047437385.1:c.5970A>G, XM_047437389.1:c.5901A>G, XM_047437386.1:c.5970A>G, XM_047437387.1:c.5964A>G, XM_047437388.1:c.5901A>G, XM_047437391.1:c.5895A>G, XM_047437390.1:c.5901A>G, XM_047437392.1:c.5091A>G

                            14.

                            rs1484417228 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              18:9256819 (GRCh38)
                              18:9256817 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:9256818:T:C
                              Gene:
                              ANKRD12 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000018.10:g.9256819T>C, NC_000018.9:g.9256817T>C, NG_047134.1:g.125067T>C, NM_015208.5:c.3552T>C, NM_015208.4:c.3552T>C, NM_001083625.3:c.3483T>C, NM_001083625.2:c.3483T>C, NM_001204056.1:c.3483T>C, XM_005258093.5:c.3552T>C, XM_005258093.4:c.3552T>C, XM_005258093.3:c.3552T>C, XM_005258093.2:c.3552T>C, XM_005258093.1:c.3552T>C, XM_005258095.4:c.3546T>C, XM_005258095.3:c.3546T>C, XM_005258095.2:c.3546T>C, XM_005258095.1:c.3546T>C, XM_005258096.4:c.3477T>C, XM_005258096.3:c.3477T>C, XM_005258096.2:c.3477T>C, XM_005258096.1:c.3477T>C, XM_011525638.4:c.3552T>C, XM_011525638.3:c.3552T>C, XM_011525638.2:c.3552T>C, XM_011525638.1:c.3552T>C, XM_017025661.3:c.3546T>C, XM_017025661.2:c.3546T>C, XM_017025661.1:c.3546T>C, XM_017025662.3:c.3546T>C, XM_017025662.2:c.3546T>C, XM_017025662.1:c.3546T>C, XM_017025663.3:c.3483T>C, XM_017025663.2:c.3483T>C, XM_017025663.1:c.3483T>C, XM_017025664.3:c.3477T>C, XM_017025664.2:c.3477T>C, XM_017025664.1:c.3477T>C, XM_017025666.3:c.3477T>C, XM_017025666.2:c.3477T>C, XM_017025666.1:c.3477T>C, XM_017025669.3:c.2673T>C, XM_017025669.2:c.2673T>C, XM_017025669.1:c.2673T>C, XM_024451107.2:c.3552T>C, XM_024451107.1:c.3552T>C, XM_047437385.1:c.3552T>C, XM_047437389.1:c.3483T>C, XM_047437386.1:c.3552T>C, XM_047437387.1:c.3546T>C, XM_047437388.1:c.3483T>C, XM_047437391.1:c.3477T>C, XM_047437390.1:c.3483T>C, XM_047437392.1:c.2673T>C

                              15.

                              rs1484150564 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                18:9221967 (GRCh38)
                                18:9221965 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:9221966:T:G
                                Gene:
                                ANKRD12 (Varview)
                                Functional Consequence:
                                missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                G=0.001092/2 (Korea1K)
                                HGVS:
                                NC_000018.10:g.9221967T>G, NC_000018.9:g.9221965T>G, NG_047134.1:g.90215T>G, NM_015208.5:c.911T>G, NM_015208.4:c.911T>G, NM_001083625.3:c.842T>G, NM_001083625.2:c.842T>G, NM_001204056.1:c.842T>G, XM_005258093.5:c.911T>G, XM_005258093.4:c.911T>G, XM_005258093.3:c.911T>G, XM_005258093.2:c.911T>G, XM_005258093.1:c.911T>G, XM_005258095.4:c.905T>G, XM_005258095.3:c.905T>G, XM_005258095.2:c.905T>G, XM_005258095.1:c.905T>G, XM_005258096.4:c.836T>G, XM_005258096.3:c.836T>G, XM_005258096.2:c.836T>G, XM_005258096.1:c.836T>G, XM_011525638.4:c.911T>G, XM_011525638.3:c.911T>G, XM_011525638.2:c.911T>G, XM_011525638.1:c.911T>G, XM_017025661.3:c.905T>G, XM_017025661.2:c.905T>G, XM_017025661.1:c.905T>G, XM_017025662.3:c.905T>G, XM_017025662.2:c.905T>G, XM_017025662.1:c.905T>G, XM_017025663.3:c.842T>G, XM_017025663.2:c.842T>G, XM_017025663.1:c.842T>G, XM_017025664.3:c.836T>G, XM_017025664.2:c.836T>G, XM_017025664.1:c.836T>G, XM_017025666.3:c.836T>G, XM_017025666.2:c.836T>G, XM_017025666.1:c.836T>G, XM_024451107.2:c.911T>G, XM_024451107.1:c.911T>G, XM_047437385.1:c.911T>G, XM_047437389.1:c.842T>G, XM_047437386.1:c.911T>G, XM_047437387.1:c.905T>G, XM_047437388.1:c.842T>G, XM_047437391.1:c.836T>G, XM_047437390.1:c.842T>G, XM_047437392.1:c.-49T>G, NP_056023.3:p.Val304Gly, NP_001077094.1:p.Val281Gly, NP_001190985.1:p.Val281Gly, XP_005258150.1:p.Val304Gly, XP_005258152.1:p.Val302Gly, XP_005258153.1:p.Val279Gly, XP_011523940.1:p.Val304Gly, XP_016881150.1:p.Val302Gly, XP_016881151.1:p.Val302Gly, XP_016881152.1:p.Val281Gly, XP_016881153.1:p.Val279Gly, XP_016881155.1:p.Val279Gly, XP_024306875.1:p.Val304Gly, XP_047293341.1:p.Val304Gly, XP_047293345.1:p.Val281Gly, XP_047293342.1:p.Val304Gly, XP_047293343.1:p.Val302Gly, XP_047293344.1:p.Val281Gly, XP_047293347.1:p.Val279Gly, XP_047293346.1:p.Val281Gly

                                16.

                                rs1484091256 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  18:9257129 (GRCh38)
                                  18:9257127 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:9257128:T:G
                                  Gene:
                                  ANKRD12 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000043/6 (GnomAD)
                                  HGVS:
                                  NC_000018.10:g.9257129T>G, NC_000018.9:g.9257127T>G, NG_047134.1:g.125377T>G, NM_015208.5:c.3862T>G, NM_015208.4:c.3862T>G, NM_001083625.3:c.3793T>G, NM_001083625.2:c.3793T>G, NM_001204056.1:c.3793T>G, XM_005258093.5:c.3862T>G, XM_005258093.4:c.3862T>G, XM_005258093.3:c.3862T>G, XM_005258093.2:c.3862T>G, XM_005258093.1:c.3862T>G, XM_005258095.4:c.3856T>G, XM_005258095.3:c.3856T>G, XM_005258095.2:c.3856T>G, XM_005258095.1:c.3856T>G, XM_005258096.4:c.3787T>G, XM_005258096.3:c.3787T>G, XM_005258096.2:c.3787T>G, XM_005258096.1:c.3787T>G, XM_011525638.4:c.3862T>G, XM_011525638.3:c.3862T>G, XM_011525638.2:c.3862T>G, XM_011525638.1:c.3862T>G, XM_017025661.3:c.3856T>G, XM_017025661.2:c.3856T>G, XM_017025661.1:c.3856T>G, XM_017025662.3:c.3856T>G, XM_017025662.2:c.3856T>G, XM_017025662.1:c.3856T>G, XM_017025663.3:c.3793T>G, XM_017025663.2:c.3793T>G, XM_017025663.1:c.3793T>G, XM_017025664.3:c.3787T>G, XM_017025664.2:c.3787T>G, XM_017025664.1:c.3787T>G, XM_017025666.3:c.3787T>G, XM_017025666.2:c.3787T>G, XM_017025666.1:c.3787T>G, XM_017025669.3:c.2983T>G, XM_017025669.2:c.2983T>G, XM_017025669.1:c.2983T>G, XM_024451107.2:c.3862T>G, XM_024451107.1:c.3862T>G, XM_047437385.1:c.3862T>G, XM_047437389.1:c.3793T>G, XM_047437386.1:c.3862T>G, XM_047437387.1:c.3856T>G, XM_047437388.1:c.3793T>G, XM_047437391.1:c.3787T>G, XM_047437390.1:c.3793T>G, XM_047437392.1:c.2983T>G, NP_056023.3:p.Ser1288Ala, NP_001077094.1:p.Ser1265Ala, NP_001190985.1:p.Ser1265Ala, XP_005258150.1:p.Ser1288Ala, XP_005258152.1:p.Ser1286Ala, XP_005258153.1:p.Ser1263Ala, XP_011523940.1:p.Ser1288Ala, XP_016881150.1:p.Ser1286Ala, XP_016881151.1:p.Ser1286Ala, XP_016881152.1:p.Ser1265Ala, XP_016881153.1:p.Ser1263Ala, XP_016881155.1:p.Ser1263Ala, XP_016881158.1:p.Ser995Ala, XP_024306875.1:p.Ser1288Ala, XP_047293341.1:p.Ser1288Ala, XP_047293345.1:p.Ser1265Ala, XP_047293342.1:p.Ser1288Ala, XP_047293343.1:p.Ser1286Ala, XP_047293344.1:p.Ser1265Ala, XP_047293347.1:p.Ser1263Ala, XP_047293346.1:p.Ser1265Ala, XP_047293348.1:p.Ser995Ala

                                  17.

                                  rs1483997035 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    18:9256901 (GRCh38)
                                    18:9256899 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:9256900:T:G
                                    Gene:
                                    ANKRD12 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000018.10:g.9256901T>G, NC_000018.9:g.9256899T>G, NG_047134.1:g.125149T>G, NM_015208.5:c.3634T>G, NM_015208.4:c.3634T>G, NM_001083625.3:c.3565T>G, NM_001083625.2:c.3565T>G, NM_001204056.1:c.3565T>G, XM_005258093.5:c.3634T>G, XM_005258093.4:c.3634T>G, XM_005258093.3:c.3634T>G, XM_005258093.2:c.3634T>G, XM_005258093.1:c.3634T>G, XM_005258095.4:c.3628T>G, XM_005258095.3:c.3628T>G, XM_005258095.2:c.3628T>G, XM_005258095.1:c.3628T>G, XM_005258096.4:c.3559T>G, XM_005258096.3:c.3559T>G, XM_005258096.2:c.3559T>G, XM_005258096.1:c.3559T>G, XM_011525638.4:c.3634T>G, XM_011525638.3:c.3634T>G, XM_011525638.2:c.3634T>G, XM_011525638.1:c.3634T>G, XM_017025661.3:c.3628T>G, XM_017025661.2:c.3628T>G, XM_017025661.1:c.3628T>G, XM_017025662.3:c.3628T>G, XM_017025662.2:c.3628T>G, XM_017025662.1:c.3628T>G, XM_017025663.3:c.3565T>G, XM_017025663.2:c.3565T>G, XM_017025663.1:c.3565T>G, XM_017025664.3:c.3559T>G, XM_017025664.2:c.3559T>G, XM_017025664.1:c.3559T>G, XM_017025666.3:c.3559T>G, XM_017025666.2:c.3559T>G, XM_017025666.1:c.3559T>G, XM_017025669.3:c.2755T>G, XM_017025669.2:c.2755T>G, XM_017025669.1:c.2755T>G, XM_024451107.2:c.3634T>G, XM_024451107.1:c.3634T>G, XM_047437385.1:c.3634T>G, XM_047437389.1:c.3565T>G, XM_047437386.1:c.3634T>G, XM_047437387.1:c.3628T>G, XM_047437388.1:c.3565T>G, XM_047437391.1:c.3559T>G, XM_047437390.1:c.3565T>G, XM_047437392.1:c.2755T>G, NP_056023.3:p.Ser1212Ala, NP_001077094.1:p.Ser1189Ala, NP_001190985.1:p.Ser1189Ala, XP_005258150.1:p.Ser1212Ala, XP_005258152.1:p.Ser1210Ala, XP_005258153.1:p.Ser1187Ala, XP_011523940.1:p.Ser1212Ala, XP_016881150.1:p.Ser1210Ala, XP_016881151.1:p.Ser1210Ala, XP_016881152.1:p.Ser1189Ala, XP_016881153.1:p.Ser1187Ala, XP_016881155.1:p.Ser1187Ala, XP_016881158.1:p.Ser919Ala, XP_024306875.1:p.Ser1212Ala, XP_047293341.1:p.Ser1212Ala, XP_047293345.1:p.Ser1189Ala, XP_047293342.1:p.Ser1212Ala, XP_047293343.1:p.Ser1210Ala, XP_047293344.1:p.Ser1189Ala, XP_047293347.1:p.Ser1187Ala, XP_047293346.1:p.Ser1189Ala, XP_047293348.1:p.Ser919Ala

                                    18.

                                    rs1483989881 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GA>- [Show Flanks]
                                      Chromosome:
                                      18:9256529 (GRCh38)
                                      18:9256527 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:9256527:AGA:A
                                      Gene:
                                      ANKRD12 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000018.10:g.9256529_9256530del, NC_000018.9:g.9256527_9256528del, NG_047134.1:g.124777_124778del, NM_015208.5:c.3262_3263del, NM_015208.4:c.3262_3263del, NM_001083625.3:c.3193_3194del, NM_001083625.2:c.3193_3194del, NM_001204056.1:c.3193_3194del, XM_005258093.5:c.3262_3263del, XM_005258093.4:c.3262_3263del, XM_005258093.3:c.3262_3263del, XM_005258093.2:c.3262_3263del, XM_005258093.1:c.3262_3263del, XM_005258095.4:c.3256_3257del, XM_005258095.3:c.3256_3257del, XM_005258095.2:c.3256_3257del, XM_005258095.1:c.3256_3257del, XM_005258096.4:c.3187_3188del, XM_005258096.3:c.3187_3188del, XM_005258096.2:c.3187_3188del, XM_005258096.1:c.3187_3188del, XM_011525638.4:c.3262_3263del, XM_011525638.3:c.3262_3263del, XM_011525638.2:c.3262_3263del, XM_011525638.1:c.3262_3263del, XM_017025661.3:c.3256_3257del, XM_017025661.2:c.3256_3257del, XM_017025661.1:c.3256_3257del, XM_017025662.3:c.3256_3257del, XM_017025662.2:c.3256_3257del, XM_017025662.1:c.3256_3257del, XM_017025663.3:c.3193_3194del, XM_017025663.2:c.3193_3194del, XM_017025663.1:c.3193_3194del, XM_017025664.3:c.3187_3188del, XM_017025664.2:c.3187_3188del, XM_017025664.1:c.3187_3188del, XM_017025666.3:c.3187_3188del, XM_017025666.2:c.3187_3188del, XM_017025666.1:c.3187_3188del, XM_017025669.3:c.2383_2384del, XM_017025669.2:c.2383_2384del, XM_017025669.1:c.2383_2384del, XM_024451107.2:c.3262_3263del, XM_024451107.1:c.3262_3263del, XM_047437385.1:c.3262_3263del, XM_047437389.1:c.3193_3194del, XM_047437386.1:c.3262_3263del, XM_047437387.1:c.3256_3257del, XM_047437388.1:c.3193_3194del, XM_047437391.1:c.3187_3188del, XM_047437390.1:c.3193_3194del, XM_047437392.1:c.2383_2384del, NP_056023.3:p.Asp1088fs, NP_001077094.1:p.Asp1065fs, NP_001190985.1:p.Asp1065fs, XP_005258150.1:p.Asp1088fs, XP_005258152.1:p.Asp1086fs, XP_005258153.1:p.Asp1063fs, XP_011523940.1:p.Asp1088fs, XP_016881150.1:p.Asp1086fs, XP_016881151.1:p.Asp1086fs, XP_016881152.1:p.Asp1065fs, XP_016881153.1:p.Asp1063fs, XP_016881155.1:p.Asp1063fs, XP_016881158.1:p.Asp795fs, XP_024306875.1:p.Asp1088fs, XP_047293341.1:p.Asp1088fs, XP_047293345.1:p.Asp1065fs, XP_047293342.1:p.Asp1088fs, XP_047293343.1:p.Asp1086fs, XP_047293344.1:p.Asp1065fs, XP_047293347.1:p.Asp1063fs, XP_047293346.1:p.Asp1065fs, XP_047293348.1:p.Asp795fs

                                      19.

                                      rs1483129318 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        18:9255518 (GRCh38)
                                        18:9255516 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:9255517:C:T
                                        Gene:
                                        ANKRD12 (Varview)
                                        Functional Consequence:
                                        stop_gained,coding_sequence_variant
                                        HGVS:
                                        NC_000018.10:g.9255518C>T, NC_000018.9:g.9255516C>T, NG_047134.1:g.123766C>T, NM_015208.5:c.2251C>T, NM_015208.4:c.2251C>T, NM_001083625.3:c.2182C>T, NM_001083625.2:c.2182C>T, NM_001204056.1:c.2182C>T, XM_005258093.5:c.2251C>T, XM_005258093.4:c.2251C>T, XM_005258093.3:c.2251C>T, XM_005258093.2:c.2251C>T, XM_005258093.1:c.2251C>T, XM_005258095.4:c.2245C>T, XM_005258095.3:c.2245C>T, XM_005258095.2:c.2245C>T, XM_005258095.1:c.2245C>T, XM_005258096.4:c.2176C>T, XM_005258096.3:c.2176C>T, XM_005258096.2:c.2176C>T, XM_005258096.1:c.2176C>T, XM_011525638.4:c.2251C>T, XM_011525638.3:c.2251C>T, XM_011525638.2:c.2251C>T, XM_011525638.1:c.2251C>T, XM_017025661.3:c.2245C>T, XM_017025661.2:c.2245C>T, XM_017025661.1:c.2245C>T, XM_017025662.3:c.2245C>T, XM_017025662.2:c.2245C>T, XM_017025662.1:c.2245C>T, XM_017025663.3:c.2182C>T, XM_017025663.2:c.2182C>T, XM_017025663.1:c.2182C>T, XM_017025664.3:c.2176C>T, XM_017025664.2:c.2176C>T, XM_017025664.1:c.2176C>T, XM_017025666.3:c.2176C>T, XM_017025666.2:c.2176C>T, XM_017025666.1:c.2176C>T, XM_017025669.3:c.1372C>T, XM_017025669.2:c.1372C>T, XM_017025669.1:c.1372C>T, XM_024451107.2:c.2251C>T, XM_024451107.1:c.2251C>T, XM_047437385.1:c.2251C>T, XM_047437389.1:c.2182C>T, XM_047437386.1:c.2251C>T, XM_047437387.1:c.2245C>T, XM_047437388.1:c.2182C>T, XM_047437391.1:c.2176C>T, XM_047437390.1:c.2182C>T, XM_047437392.1:c.1372C>T, NP_056023.3:p.Arg751Ter, NP_001077094.1:p.Arg728Ter, NP_001190985.1:p.Arg728Ter, XP_005258150.1:p.Arg751Ter, XP_005258152.1:p.Arg749Ter, XP_005258153.1:p.Arg726Ter, XP_011523940.1:p.Arg751Ter, XP_016881150.1:p.Arg749Ter, XP_016881151.1:p.Arg749Ter, XP_016881152.1:p.Arg728Ter, XP_016881153.1:p.Arg726Ter, XP_016881155.1:p.Arg726Ter, XP_016881158.1:p.Arg458Ter, XP_024306875.1:p.Arg751Ter, XP_047293341.1:p.Arg751Ter, XP_047293345.1:p.Arg728Ter, XP_047293342.1:p.Arg751Ter, XP_047293343.1:p.Arg749Ter, XP_047293344.1:p.Arg728Ter, XP_047293347.1:p.Arg726Ter, XP_047293346.1:p.Arg728Ter, XP_047293348.1:p.Arg458Ter

                                        20.

                                        rs1483103224 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          18:9254634 (GRCh38)
                                          18:9254632 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:9254633:C:T
                                          Gene:
                                          ANKRD12 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000018.10:g.9254634C>T, NC_000018.9:g.9254632C>T, NG_047134.1:g.122882C>T, NM_015208.5:c.1367C>T, NM_015208.4:c.1367C>T, NM_001083625.3:c.1298C>T, NM_001083625.2:c.1298C>T, NM_001204056.1:c.1298C>T, XM_005258093.5:c.1367C>T, XM_005258093.4:c.1367C>T, XM_005258093.3:c.1367C>T, XM_005258093.2:c.1367C>T, XM_005258093.1:c.1367C>T, XM_005258095.4:c.1361C>T, XM_005258095.3:c.1361C>T, XM_005258095.2:c.1361C>T, XM_005258095.1:c.1361C>T, XM_005258096.4:c.1292C>T, XM_005258096.3:c.1292C>T, XM_005258096.2:c.1292C>T, XM_005258096.1:c.1292C>T, XM_011525638.4:c.1367C>T, XM_011525638.3:c.1367C>T, XM_011525638.2:c.1367C>T, XM_011525638.1:c.1367C>T, XM_017025661.3:c.1361C>T, XM_017025661.2:c.1361C>T, XM_017025661.1:c.1361C>T, XM_017025662.3:c.1361C>T, XM_017025662.2:c.1361C>T, XM_017025662.1:c.1361C>T, XM_017025663.3:c.1298C>T, XM_017025663.2:c.1298C>T, XM_017025663.1:c.1298C>T, XM_017025664.3:c.1292C>T, XM_017025664.2:c.1292C>T, XM_017025664.1:c.1292C>T, XM_017025666.3:c.1292C>T, XM_017025666.2:c.1292C>T, XM_017025666.1:c.1292C>T, XM_017025669.3:c.488C>T, XM_017025669.2:c.488C>T, XM_017025669.1:c.488C>T, XM_024451107.2:c.1367C>T, XM_024451107.1:c.1367C>T, XM_047437385.1:c.1367C>T, XM_047437389.1:c.1298C>T, XM_047437386.1:c.1367C>T, XM_047437387.1:c.1361C>T, XM_047437388.1:c.1298C>T, XM_047437391.1:c.1292C>T, XM_047437390.1:c.1298C>T, XM_047437392.1:c.488C>T, NP_056023.3:p.Thr456Ile, NP_001077094.1:p.Thr433Ile, NP_001190985.1:p.Thr433Ile, XP_005258150.1:p.Thr456Ile, XP_005258152.1:p.Thr454Ile, XP_005258153.1:p.Thr431Ile, XP_011523940.1:p.Thr456Ile, XP_016881150.1:p.Thr454Ile, XP_016881151.1:p.Thr454Ile, XP_016881152.1:p.Thr433Ile, XP_016881153.1:p.Thr431Ile, XP_016881155.1:p.Thr431Ile, XP_016881158.1:p.Thr163Ile, XP_024306875.1:p.Thr456Ile, XP_047293341.1:p.Thr456Ile, XP_047293345.1:p.Thr433Ile, XP_047293342.1:p.Thr456Ile, XP_047293343.1:p.Thr454Ile, XP_047293344.1:p.Thr433Ile, XP_047293347.1:p.Thr431Ile, XP_047293346.1:p.Thr433Ile, XP_047293348.1:p.Thr163Ile

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