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Items: 1 to 20 of 1000

1.

rs1490912342 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    10:27035691 (GRCh38)
    10:27324620 (GRCh37)
    Canonical SPDI:
    NC_000010.11:27035690:T:C
    Gene:
    ANKRD26 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.27035691T>C, NC_000010.10:g.27324620T>C, NG_031973.2:g.69808A>G, NM_014915.3:c.2759A>G, NM_014915.2:c.2759A>G, NM_001256053.2:c.2756A>G, NM_001256053.1:c.2756A>G, XM_006717425.5:c.3845A>G, XM_006717425.4:c.3845A>G, XM_006717425.3:c.3845A>G, XM_006717425.2:c.3845A>G, XM_006717425.1:c.3845A>G, XM_006717423.3:c.3845A>G, XM_006717423.2:c.3845A>G, XM_006717423.1:c.3845A>G, XM_011519416.3:c.3845A>G, XM_011519416.2:c.3845A>G, XM_011519416.1:c.3845A>G, XM_017015929.2:c.3833A>G, XM_017015929.1:c.3833A>G, XM_017015928.2:c.3845A>G, XM_017015928.1:c.3845A>G, XM_017015932.2:c.3845A>G, XM_017015932.1:c.3845A>G, XM_047424822.1:c.3845A>G, XM_047424828.1:c.2759A>G, XM_047424821.1:c.3845A>G, XM_047424824.1:c.3842A>G, XM_047424826.1:c.3845A>G, XM_047424827.1:c.2657A>G, XM_047424825.1:c.3845A>G, XM_047424830.1:c.2756A>G, XM_047424832.1:c.2657A>G, XM_047424831.1:c.3845A>G, NP_055730.2:p.Glu920Gly, NP_001242982.1:p.Glu919Gly, XP_006717488.1:p.Glu1282Gly, XP_006717486.1:p.Glu1282Gly, XP_011517718.1:p.Glu1282Gly, XP_016871418.1:p.Glu1278Gly, XP_016871417.1:p.Glu1282Gly, XP_016871421.1:p.Glu1282Gly, XP_047280778.1:p.Glu1282Gly, XP_047280784.1:p.Glu920Gly, XP_047280777.1:p.Glu1282Gly, XP_047280780.1:p.Glu1281Gly, XP_047280782.1:p.Glu1282Gly, XP_047280783.1:p.Glu886Gly, XP_047280781.1:p.Glu1282Gly, XP_047280786.1:p.Glu919Gly, XP_047280788.1:p.Glu886Gly, XP_047280787.1:p.Glu1282Gly

    2.

    rs1490551822 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      10:27037317 (GRCh38)
      10:27326246 (GRCh37)
      Canonical SPDI:
      NC_000010.11:27037316:G:T
      Gene:
      ANKRD26 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000008/2 (GnomAD_exomes)
      T=0.000014/2 (GnomAD)
      T=0.000546/1 (Korea1K)
      HGVS:
      NC_000010.11:g.27037317G>T, NC_000010.10:g.27326246G>T, NG_031973.2:g.68182C>A, NM_014915.3:c.2566C>A, NM_014915.2:c.2566C>A, NM_001256053.2:c.2563C>A, NM_001256053.1:c.2563C>A, XM_006717425.5:c.3652C>A, XM_006717425.4:c.3652C>A, XM_006717425.3:c.3652C>A, XM_006717425.2:c.3652C>A, XM_006717425.1:c.3652C>A, XM_006717423.3:c.3652C>A, XM_006717423.2:c.3652C>A, XM_006717423.1:c.3652C>A, XM_011519416.3:c.3652C>A, XM_011519416.2:c.3652C>A, XM_011519416.1:c.3652C>A, XM_017015929.2:c.3640C>A, XM_017015929.1:c.3640C>A, XM_017015928.2:c.3652C>A, XM_017015928.1:c.3652C>A, XM_017015932.2:c.3652C>A, XM_017015932.1:c.3652C>A, XM_047424822.1:c.3652C>A, XM_047424828.1:c.2566C>A, XM_047424821.1:c.3652C>A, XM_047424824.1:c.3649C>A, XM_047424826.1:c.3652C>A, XM_047424827.1:c.2464C>A, XM_047424825.1:c.3652C>A, XM_047424830.1:c.2563C>A, XM_047424832.1:c.2464C>A, XM_047424831.1:c.3652C>A, NP_055730.2:p.Gln856Lys, NP_001242982.1:p.Gln855Lys, XP_006717488.1:p.Gln1218Lys, XP_006717486.1:p.Gln1218Lys, XP_011517718.1:p.Gln1218Lys, XP_016871418.1:p.Gln1214Lys, XP_016871417.1:p.Gln1218Lys, XP_016871421.1:p.Gln1218Lys, XP_047280778.1:p.Gln1218Lys, XP_047280784.1:p.Gln856Lys, XP_047280777.1:p.Gln1218Lys, XP_047280780.1:p.Gln1217Lys, XP_047280782.1:p.Gln1218Lys, XP_047280783.1:p.Gln822Lys, XP_047280781.1:p.Gln1218Lys, XP_047280786.1:p.Gln855Lys, XP_047280788.1:p.Gln822Lys, XP_047280787.1:p.Gln1218Lys

      3.

      rs1490408245 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:27035371 (GRCh38)
        10:27324300 (GRCh37)
        Canonical SPDI:
        NC_000010.11:27035370:T:C
        Gene:
        ANKRD26 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.27035371T>C, NC_000010.10:g.27324300T>C, NG_031973.2:g.70128A>G, NM_014915.3:c.3079A>G, NM_014915.2:c.3079A>G, NM_001256053.2:c.3076A>G, NM_001256053.1:c.3076A>G, XM_006717425.5:c.4165A>G, XM_006717425.4:c.4165A>G, XM_006717425.3:c.4165A>G, XM_006717425.2:c.4165A>G, XM_006717425.1:c.4165A>G, XM_006717423.3:c.4165A>G, XM_006717423.2:c.4165A>G, XM_006717423.1:c.4165A>G, XM_011519416.3:c.4165A>G, XM_011519416.2:c.4165A>G, XM_011519416.1:c.4165A>G, XM_017015929.2:c.4153A>G, XM_017015929.1:c.4153A>G, XM_017015928.2:c.4165A>G, XM_017015928.1:c.4165A>G, XM_017015932.2:c.4165A>G, XM_017015932.1:c.4165A>G, XM_047424822.1:c.4165A>G, XM_047424828.1:c.3079A>G, XM_047424821.1:c.4165A>G, XM_047424824.1:c.4162A>G, XM_047424826.1:c.4165A>G, XM_047424827.1:c.2977A>G, XM_047424825.1:c.4165A>G, XM_047424830.1:c.3076A>G, XM_047424832.1:c.2977A>G, XM_047424831.1:c.4165A>G, NP_055730.2:p.Lys1027Glu, NP_001242982.1:p.Lys1026Glu, XP_006717488.1:p.Lys1389Glu, XP_006717486.1:p.Lys1389Glu, XP_011517718.1:p.Lys1389Glu, XP_016871418.1:p.Lys1385Glu, XP_016871417.1:p.Lys1389Glu, XP_016871421.1:p.Lys1389Glu, XP_047280778.1:p.Lys1389Glu, XP_047280784.1:p.Lys1027Glu, XP_047280777.1:p.Lys1389Glu, XP_047280780.1:p.Lys1388Glu, XP_047280782.1:p.Lys1389Glu, XP_047280783.1:p.Lys993Glu, XP_047280781.1:p.Lys1389Glu, XP_047280786.1:p.Lys1026Glu, XP_047280788.1:p.Lys993Glu, XP_047280787.1:p.Lys1389Glu

        4.

        rs1490389821 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          10:27046405 (GRCh38)
          10:27335334 (GRCh37)
          Canonical SPDI:
          NC_000010.11:27046404:G:C
          Gene:
          ANKRD26 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000224/1 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000223/1 (Estonian)
          HGVS:
          NC_000010.11:g.27046405G>C, NC_000010.10:g.27335334G>C, NG_031973.2:g.59094C>G, NM_014915.3:c.1933C>G, NM_014915.2:c.1933C>G, NM_001256053.2:c.1930C>G, NM_001256053.1:c.1930C>G, XM_006717425.5:c.3019C>G, XM_006717425.4:c.3019C>G, XM_006717425.3:c.3019C>G, XM_006717425.2:c.3019C>G, XM_006717425.1:c.3019C>G, XM_006717423.3:c.3019C>G, XM_006717423.2:c.3019C>G, XM_006717423.1:c.3019C>G, XM_011519416.3:c.3019C>G, XM_011519416.2:c.3019C>G, XM_011519416.1:c.3019C>G, XM_017015929.2:c.3007C>G, XM_017015929.1:c.3007C>G, XM_017015928.2:c.3019C>G, XM_017015928.1:c.3019C>G, XM_017015932.2:c.3019C>G, XM_017015932.1:c.3019C>G, XM_047424822.1:c.3019C>G, XM_047424828.1:c.1933C>G, XM_047424821.1:c.3019C>G, XM_047424824.1:c.3016C>G, XM_047424826.1:c.3019C>G, XM_047424827.1:c.1831C>G, XM_047424825.1:c.3019C>G, XM_047424830.1:c.1930C>G, XM_047424832.1:c.1831C>G, XM_047424831.1:c.3019C>G, XM_047424833.1:c.3019C>G, NP_055730.2:p.Leu645Val, NP_001242982.1:p.Leu644Val, XP_006717488.1:p.Leu1007Val, XP_006717486.1:p.Leu1007Val, XP_011517718.1:p.Leu1007Val, XP_016871418.1:p.Leu1003Val, XP_016871417.1:p.Leu1007Val, XP_016871421.1:p.Leu1007Val, XP_047280778.1:p.Leu1007Val, XP_047280784.1:p.Leu645Val, XP_047280777.1:p.Leu1007Val, XP_047280780.1:p.Leu1006Val, XP_047280782.1:p.Leu1007Val, XP_047280783.1:p.Leu611Val, XP_047280781.1:p.Leu1007Val, XP_047280786.1:p.Leu644Val, XP_047280788.1:p.Leu611Val, XP_047280787.1:p.Leu1007Val, XP_047280789.1:p.Leu1007Val

          5.

          rs1489918016 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:27035041 (GRCh38)
            10:27323970 (GRCh37)
            Canonical SPDI:
            NC_000010.11:27035040:A:G
            Gene:
            ANKRD26 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.27035041A>G, NC_000010.10:g.27323970A>G, NG_031973.2:g.70458T>C, NM_014915.3:c.3409T>C, NM_014915.2:c.3409T>C, NM_001256053.2:c.3406T>C, NM_001256053.1:c.3406T>C, XM_006717425.5:c.4495T>C, XM_006717425.4:c.4495T>C, XM_006717425.3:c.4495T>C, XM_006717425.2:c.4495T>C, XM_006717425.1:c.4495T>C, XM_006717423.3:c.4495T>C, XM_006717423.2:c.4495T>C, XM_006717423.1:c.4495T>C, XM_011519416.3:c.4495T>C, XM_011519416.2:c.4495T>C, XM_011519416.1:c.4495T>C, XM_017015929.2:c.4483T>C, XM_017015929.1:c.4483T>C, XM_017015928.2:c.4495T>C, XM_017015928.1:c.4495T>C, XM_017015932.2:c.4495T>C, XM_017015932.1:c.4495T>C, XM_047424822.1:c.4495T>C, XM_047424828.1:c.3409T>C, XM_047424821.1:c.4495T>C, XM_047424824.1:c.4492T>C, XM_047424826.1:c.4495T>C, XM_047424827.1:c.3307T>C, XM_047424825.1:c.4495T>C, XM_047424830.1:c.3406T>C, XM_047424832.1:c.3307T>C, XM_047424831.1:c.4495T>C, NP_055730.2:p.Ser1137Pro, NP_001242982.1:p.Ser1136Pro, XP_006717488.1:p.Ser1499Pro, XP_006717486.1:p.Ser1499Pro, XP_011517718.1:p.Ser1499Pro, XP_016871418.1:p.Ser1495Pro, XP_016871417.1:p.Ser1499Pro, XP_016871421.1:p.Ser1499Pro, XP_047280778.1:p.Ser1499Pro, XP_047280784.1:p.Ser1137Pro, XP_047280777.1:p.Ser1499Pro, XP_047280780.1:p.Ser1498Pro, XP_047280782.1:p.Ser1499Pro, XP_047280783.1:p.Ser1103Pro, XP_047280781.1:p.Ser1499Pro, XP_047280786.1:p.Ser1136Pro, XP_047280788.1:p.Ser1103Pro, XP_047280787.1:p.Ser1499Pro

            6.

            rs1489562937 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              10:27033356 (GRCh38)
              10:27322285 (GRCh37)
              Canonical SPDI:
              NC_000010.11:27033355:G:A,NC_000010.11:27033355:G:C
              Gene:
              ANKRD26 (Varview)
              Functional Consequence:
              stop_gained,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000010.11:g.27033356G>A, NC_000010.11:g.27033356G>C, NC_000010.10:g.27322285G>A, NC_000010.10:g.27322285G>C, NG_031973.2:g.72143C>T, NG_031973.2:g.72143C>G, NM_014915.3:c.3676C>T, NM_014915.3:c.3676C>G, NM_014915.2:c.3676C>T, NM_014915.2:c.3676C>G, NM_001256053.2:c.3673C>T, NM_001256053.2:c.3673C>G, NM_001256053.1:c.3673C>T, NM_001256053.1:c.3673C>G, XM_006717425.5:c.4762C>T, XM_006717425.5:c.4762C>G, XM_006717425.4:c.4762C>T, XM_006717425.4:c.4762C>G, XM_006717425.3:c.4762C>T, XM_006717425.3:c.4762C>G, XM_006717425.2:c.4762C>T, XM_006717425.2:c.4762C>G, XM_006717425.1:c.4762C>T, XM_006717425.1:c.4762C>G, XM_006717423.3:c.4762C>T, XM_006717423.3:c.4762C>G, XM_006717423.2:c.4762C>T, XM_006717423.2:c.4762C>G, XM_006717423.1:c.4762C>T, XM_006717423.1:c.4762C>G, XM_011519416.3:c.4762C>T, XM_011519416.3:c.4762C>G, XM_011519416.2:c.4762C>T, XM_011519416.2:c.4762C>G, XM_011519416.1:c.4762C>T, XM_011519416.1:c.4762C>G, XM_017015929.2:c.4750C>T, XM_017015929.2:c.4750C>G, XM_017015929.1:c.4750C>T, XM_017015929.1:c.4750C>G, XM_017015928.2:c.4762C>T, XM_017015928.2:c.4762C>G, XM_017015928.1:c.4762C>T, XM_017015928.1:c.4762C>G, XM_017015932.2:c.4762C>T, XM_017015932.2:c.4762C>G, XM_017015932.1:c.4762C>T, XM_017015932.1:c.4762C>G, XM_047424822.1:c.4762C>T, XM_047424822.1:c.4762C>G, XM_047424828.1:c.3676C>T, XM_047424828.1:c.3676C>G, XM_047424821.1:c.4762C>T, XM_047424821.1:c.4762C>G, XM_047424824.1:c.4759C>T, XM_047424824.1:c.4759C>G, XM_047424826.1:c.4762C>T, XM_047424826.1:c.4762C>G, XM_047424827.1:c.3574C>T, XM_047424827.1:c.3574C>G, XM_047424825.1:c.4762C>T, XM_047424825.1:c.4762C>G, XM_047424830.1:c.3673C>T, XM_047424830.1:c.3673C>G, XM_047424832.1:c.3574C>T, XM_047424832.1:c.3574C>G, XM_047424831.1:c.4762C>T, XM_047424831.1:c.4762C>G, NP_055730.2:p.Gln1226Ter, NP_055730.2:p.Gln1226Glu, NP_001242982.1:p.Gln1225Ter, NP_001242982.1:p.Gln1225Glu, XP_006717488.1:p.Gln1588Ter, XP_006717488.1:p.Gln1588Glu, XP_006717486.1:p.Gln1588Ter, XP_006717486.1:p.Gln1588Glu, XP_011517718.1:p.Gln1588Ter, XP_011517718.1:p.Gln1588Glu, XP_016871418.1:p.Gln1584Ter, XP_016871418.1:p.Gln1584Glu, XP_016871417.1:p.Gln1588Ter, XP_016871417.1:p.Gln1588Glu, XP_016871421.1:p.Gln1588Ter, XP_016871421.1:p.Gln1588Glu, XP_047280778.1:p.Gln1588Ter, XP_047280778.1:p.Gln1588Glu, XP_047280784.1:p.Gln1226Ter, XP_047280784.1:p.Gln1226Glu, XP_047280777.1:p.Gln1588Ter, XP_047280777.1:p.Gln1588Glu, XP_047280780.1:p.Gln1587Ter, XP_047280780.1:p.Gln1587Glu, XP_047280782.1:p.Gln1588Ter, XP_047280782.1:p.Gln1588Glu, XP_047280783.1:p.Gln1192Ter, XP_047280783.1:p.Gln1192Glu, XP_047280781.1:p.Gln1588Ter, XP_047280781.1:p.Gln1588Glu, XP_047280786.1:p.Gln1225Ter, XP_047280786.1:p.Gln1225Glu, XP_047280788.1:p.Gln1192Ter, XP_047280788.1:p.Gln1192Glu, XP_047280787.1:p.Gln1588Ter, XP_047280787.1:p.Gln1588Glu

              7.

              rs1488770497 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:27039970 (GRCh38)
                10:27328899 (GRCh37)
                Canonical SPDI:
                NC_000010.11:27039969:A:G
                Gene:
                ANKRD26 (Varview)
                Functional Consequence:
                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.27039970A>G, NC_000010.10:g.27328899A>G, NG_031973.2:g.65529T>C, NM_014915.3:c.2370T>C, NM_014915.2:c.2370T>C, NM_001256053.2:c.2367T>C, NM_001256053.1:c.2367T>C, XM_006717425.5:c.3456T>C, XM_006717425.4:c.3456T>C, XM_006717425.3:c.3456T>C, XM_006717425.2:c.3456T>C, XM_006717425.1:c.3456T>C, XM_006717423.3:c.3456T>C, XM_006717423.2:c.3456T>C, XM_006717423.1:c.3456T>C, XM_011519416.3:c.3456T>C, XM_011519416.2:c.3456T>C, XM_011519416.1:c.3456T>C, XM_017015929.2:c.3444T>C, XM_017015929.1:c.3444T>C, XM_017015928.2:c.3456T>C, XM_017015928.1:c.3456T>C, XM_017015932.2:c.3456T>C, XM_017015932.1:c.3456T>C, XM_047424822.1:c.3456T>C, XM_047424828.1:c.2370T>C, XM_047424821.1:c.3456T>C, XM_047424824.1:c.3453T>C, XM_047424826.1:c.3456T>C, XM_047424827.1:c.2268T>C, XM_047424825.1:c.3456T>C, XM_047424830.1:c.2367T>C, XM_047424832.1:c.2268T>C, XM_047424831.1:c.3456T>C

                8.

                rs1488436439 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:27017569 (GRCh38)
                  10:27306498 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:27017568:T:C
                  Gene:
                  ANKRD26 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.27017569T>C, NC_000010.10:g.27306498T>C, NG_031973.2:g.87930A>G, NM_014915.3:c.4439A>G, NM_014915.2:c.4439A>G, NM_001256053.2:c.4436A>G, NM_001256053.1:c.4436A>G, XM_006717425.5:c.5525A>G, XM_006717425.4:c.5525A>G, XM_006717425.3:c.5525A>G, XM_006717425.2:c.5525A>G, XM_006717425.1:c.5525A>G, XM_006717423.3:c.5525A>G, XM_006717423.2:c.5525A>G, XM_006717423.1:c.5525A>G, XM_011519416.3:c.5525A>G, XM_011519416.2:c.5525A>G, XM_011519416.1:c.5525A>G, XM_017015929.2:c.5513A>G, XM_017015929.1:c.5513A>G, XM_017015928.2:c.5525A>G, XM_017015928.1:c.5525A>G, XM_017015932.2:c.5525A>G, XM_017015932.1:c.5525A>G, XM_047424822.1:c.5525A>G, XM_047424828.1:c.4439A>G, XM_047424821.1:c.5525A>G, XM_047424824.1:c.5522A>G, XM_047424827.1:c.4337A>G, XM_047424825.1:c.5525A>G, XM_047424830.1:c.4436A>G, XM_047424832.1:c.4337A>G, NP_055730.2:p.Gln1480Arg, NP_001242982.1:p.Gln1479Arg, XP_006717488.1:p.Gln1842Arg, XP_006717486.1:p.Gln1842Arg, XP_011517718.1:p.Gln1842Arg, XP_016871418.1:p.Gln1838Arg, XP_016871417.1:p.Gln1842Arg, XP_016871421.1:p.Gln1842Arg, XP_047280778.1:p.Gln1842Arg, XP_047280784.1:p.Gln1480Arg, XP_047280777.1:p.Gln1842Arg, XP_047280780.1:p.Gln1841Arg, XP_047280783.1:p.Gln1446Arg, XP_047280781.1:p.Gln1842Arg, XP_047280786.1:p.Gln1479Arg, XP_047280788.1:p.Gln1446Arg

                  9.

                  rs1488269567 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    10:27035708 (GRCh38)
                    10:27324637 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:27035707:A:C
                    Gene:
                    ANKRD26 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000010.11:g.27035708A>C, NC_000010.10:g.27324637A>C, NG_031973.2:g.69791T>G, NM_014915.3:c.2742T>G, NM_014915.2:c.2742T>G, NM_001256053.2:c.2739T>G, NM_001256053.1:c.2739T>G, XM_006717425.5:c.3828T>G, XM_006717425.4:c.3828T>G, XM_006717425.3:c.3828T>G, XM_006717425.2:c.3828T>G, XM_006717425.1:c.3828T>G, XM_006717423.3:c.3828T>G, XM_006717423.2:c.3828T>G, XM_006717423.1:c.3828T>G, XM_011519416.3:c.3828T>G, XM_011519416.2:c.3828T>G, XM_011519416.1:c.3828T>G, XM_017015929.2:c.3816T>G, XM_017015929.1:c.3816T>G, XM_017015928.2:c.3828T>G, XM_017015928.1:c.3828T>G, XM_017015932.2:c.3828T>G, XM_017015932.1:c.3828T>G, XM_047424822.1:c.3828T>G, XM_047424828.1:c.2742T>G, XM_047424821.1:c.3828T>G, XM_047424824.1:c.3825T>G, XM_047424826.1:c.3828T>G, XM_047424827.1:c.2640T>G, XM_047424825.1:c.3828T>G, XM_047424830.1:c.2739T>G, XM_047424832.1:c.2640T>G, XM_047424831.1:c.3828T>G, NP_055730.2:p.Asn914Lys, NP_001242982.1:p.Asn913Lys, XP_006717488.1:p.Asn1276Lys, XP_006717486.1:p.Asn1276Lys, XP_011517718.1:p.Asn1276Lys, XP_016871418.1:p.Asn1272Lys, XP_016871417.1:p.Asn1276Lys, XP_016871421.1:p.Asn1276Lys, XP_047280778.1:p.Asn1276Lys, XP_047280784.1:p.Asn914Lys, XP_047280777.1:p.Asn1276Lys, XP_047280780.1:p.Asn1275Lys, XP_047280782.1:p.Asn1276Lys, XP_047280783.1:p.Asn880Lys, XP_047280781.1:p.Asn1276Lys, XP_047280786.1:p.Asn913Lys, XP_047280788.1:p.Asn880Lys, XP_047280787.1:p.Asn1276Lys

                    10.

                    rs1484512796 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      10:27043499 (GRCh38)
                      10:27332428 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:27043498:C:T
                      Gene:
                      ANKRD26 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      T=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.27043499C>T, NC_000010.10:g.27332428C>T, NG_031973.2:g.62000G>A, NM_014915.3:c.2088G>A, NM_014915.2:c.2088G>A, NM_001256053.2:c.2085G>A, NM_001256053.1:c.2085G>A, XM_006717425.5:c.3174G>A, XM_006717425.4:c.3174G>A, XM_006717425.3:c.3174G>A, XM_006717425.2:c.3174G>A, XM_006717425.1:c.3174G>A, XM_006717423.3:c.3174G>A, XM_006717423.2:c.3174G>A, XM_006717423.1:c.3174G>A, XM_011519416.3:c.3174G>A, XM_011519416.2:c.3174G>A, XM_011519416.1:c.3174G>A, XM_017015929.2:c.3162G>A, XM_017015929.1:c.3162G>A, XM_017015928.2:c.3174G>A, XM_017015928.1:c.3174G>A, XM_017015932.2:c.3174G>A, XM_017015932.1:c.3174G>A, XM_047424822.1:c.3174G>A, XM_047424828.1:c.2088G>A, XM_047424821.1:c.3174G>A, XM_047424824.1:c.3171G>A, XM_047424826.1:c.3174G>A, XM_047424827.1:c.1986G>A, XM_047424825.1:c.3174G>A, XM_047424830.1:c.2085G>A, XM_047424832.1:c.1986G>A, XM_047424831.1:c.3174G>A, XM_047424833.1:c.*26G>A

                      11.

                      rs1484082964 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:27029306 (GRCh38)
                        10:27318235 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:27029305:C:T
                        Gene:
                        ANKRD26 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000031/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000010.11:g.27029306C>T, NC_000010.10:g.27318235C>T, NG_031973.2:g.76193G>A, NM_014915.3:c.3858G>A, NM_014915.2:c.3858G>A, NM_001256053.2:c.3855G>A, NM_001256053.1:c.3855G>A, XM_006717425.5:c.4944G>A, XM_006717425.4:c.4944G>A, XM_006717425.3:c.4944G>A, XM_006717425.2:c.4944G>A, XM_006717425.1:c.4944G>A, XM_006717423.3:c.4944G>A, XM_006717423.2:c.4944G>A, XM_006717423.1:c.4944G>A, XM_011519416.3:c.4944G>A, XM_011519416.2:c.4944G>A, XM_011519416.1:c.4944G>A, XM_017015929.2:c.4932G>A, XM_017015929.1:c.4932G>A, XM_017015928.2:c.4944G>A, XM_017015928.1:c.4944G>A, XM_017015932.2:c.4944G>A, XM_017015932.1:c.4944G>A, XM_047424822.1:c.4944G>A, XM_047424828.1:c.3858G>A, XM_047424821.1:c.4944G>A, XM_047424824.1:c.4941G>A, XM_047424826.1:c.4944G>A, XM_047424827.1:c.3756G>A, XM_047424825.1:c.4944G>A, XM_047424830.1:c.3855G>A, XM_047424832.1:c.3756G>A

                        12.

                        rs1481901918 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          10:27037996 (GRCh38)
                          10:27326925 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:27037995:T:G
                          Gene:
                          ANKRD26 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.27037996T>G, NC_000010.10:g.27326925T>G, NG_031973.2:g.67503A>C, NM_014915.3:c.2434A>C, NM_014915.2:c.2434A>C, NM_001256053.2:c.2431A>C, NM_001256053.1:c.2431A>C, XM_006717425.5:c.3520A>C, XM_006717425.4:c.3520A>C, XM_006717425.3:c.3520A>C, XM_006717425.2:c.3520A>C, XM_006717425.1:c.3520A>C, XM_006717423.3:c.3520A>C, XM_006717423.2:c.3520A>C, XM_006717423.1:c.3520A>C, XM_011519416.3:c.3520A>C, XM_011519416.2:c.3520A>C, XM_011519416.1:c.3520A>C, XM_017015929.2:c.3508A>C, XM_017015929.1:c.3508A>C, XM_017015928.2:c.3520A>C, XM_017015928.1:c.3520A>C, XM_017015932.2:c.3520A>C, XM_017015932.1:c.3520A>C, XM_047424822.1:c.3520A>C, XM_047424828.1:c.2434A>C, XM_047424821.1:c.3520A>C, XM_047424824.1:c.3517A>C, XM_047424826.1:c.3520A>C, XM_047424827.1:c.2332A>C, XM_047424825.1:c.3520A>C, XM_047424830.1:c.2431A>C, XM_047424832.1:c.2332A>C, XM_047424831.1:c.3520A>C, NP_055730.2:p.Ile812Leu, NP_001242982.1:p.Ile811Leu, XP_006717488.1:p.Ile1174Leu, XP_006717486.1:p.Ile1174Leu, XP_011517718.1:p.Ile1174Leu, XP_016871418.1:p.Ile1170Leu, XP_016871417.1:p.Ile1174Leu, XP_016871421.1:p.Ile1174Leu, XP_047280778.1:p.Ile1174Leu, XP_047280784.1:p.Ile812Leu, XP_047280777.1:p.Ile1174Leu, XP_047280780.1:p.Ile1173Leu, XP_047280782.1:p.Ile1174Leu, XP_047280783.1:p.Ile778Leu, XP_047280781.1:p.Ile1174Leu, XP_047280786.1:p.Ile811Leu, XP_047280788.1:p.Ile778Leu, XP_047280787.1:p.Ile1174Leu

                          13.

                          rs1481143080 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            10:27100253 (GRCh38)
                            10:27389182 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:27100252:C:G
                            Gene:
                            ANKRD26 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.27100253C>G, NC_000010.10:g.27389182C>G, NG_031973.2:g.5246G>C, NM_014915.3:c.74G>C, NM_014915.2:c.74G>C, NM_001256053.2:c.74G>C, NM_001256053.1:c.74G>C, XM_006717425.5:c.74G>C, XM_006717425.4:c.74G>C, XM_006717425.3:c.74G>C, XM_006717425.2:c.74G>C, XM_006717425.1:c.74G>C, XM_006717423.3:c.74G>C, XM_006717423.2:c.74G>C, XM_006717423.1:c.74G>C, XM_011519416.3:c.74G>C, XM_011519416.2:c.74G>C, XM_011519416.1:c.74G>C, XM_017015929.2:c.74G>C, XM_017015929.1:c.74G>C, XM_017015928.2:c.74G>C, XM_017015928.1:c.74G>C, XM_017015932.2:c.74G>C, XM_017015932.1:c.74G>C, XM_047424822.1:c.74G>C, XM_047424828.1:c.74G>C, XM_047424821.1:c.74G>C, XM_047424824.1:c.74G>C, XM_047424826.1:c.74G>C, XM_047424827.1:c.74G>C, XM_047424825.1:c.74G>C, XM_047424830.1:c.74G>C, XM_047424832.1:c.74G>C, XM_047424831.1:c.74G>C, XM_047424833.1:c.74G>C, NP_055730.2:p.Gly25Ala, NP_001242982.1:p.Gly25Ala, XP_006717488.1:p.Gly25Ala, XP_006717486.1:p.Gly25Ala, XP_011517718.1:p.Gly25Ala, XP_016871418.1:p.Gly25Ala, XP_016871417.1:p.Gly25Ala, XP_016871421.1:p.Gly25Ala, XP_047280778.1:p.Gly25Ala, XP_047280784.1:p.Gly25Ala, XP_047280777.1:p.Gly25Ala, XP_047280780.1:p.Gly25Ala, XP_047280782.1:p.Gly25Ala, XP_047280783.1:p.Gly25Ala, XP_047280781.1:p.Gly25Ala, XP_047280786.1:p.Gly25Ala, XP_047280788.1:p.Gly25Ala, XP_047280787.1:p.Gly25Ala, XP_047280789.1:p.Gly25Ala

                            14.

                            rs1481140793 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:27035567 (GRCh38)
                              10:27324496 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:27035566:T:C
                              Gene:
                              ANKRD26 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000010.11:g.27035567T>C, NC_000010.10:g.27324496T>C, NG_031973.2:g.69932A>G, NM_014915.3:c.2883A>G, NM_014915.2:c.2883A>G, NM_001256053.2:c.2880A>G, NM_001256053.1:c.2880A>G, XM_006717425.5:c.3969A>G, XM_006717425.4:c.3969A>G, XM_006717425.3:c.3969A>G, XM_006717425.2:c.3969A>G, XM_006717425.1:c.3969A>G, XM_006717423.3:c.3969A>G, XM_006717423.2:c.3969A>G, XM_006717423.1:c.3969A>G, XM_011519416.3:c.3969A>G, XM_011519416.2:c.3969A>G, XM_011519416.1:c.3969A>G, XM_017015929.2:c.3957A>G, XM_017015929.1:c.3957A>G, XM_017015928.2:c.3969A>G, XM_017015928.1:c.3969A>G, XM_017015932.2:c.3969A>G, XM_017015932.1:c.3969A>G, XM_047424822.1:c.3969A>G, XM_047424828.1:c.2883A>G, XM_047424821.1:c.3969A>G, XM_047424824.1:c.3966A>G, XM_047424826.1:c.3969A>G, XM_047424827.1:c.2781A>G, XM_047424825.1:c.3969A>G, XM_047424830.1:c.2880A>G, XM_047424832.1:c.2781A>G, XM_047424831.1:c.3969A>G

                              15.

                              rs1481057563 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                10:27024550 (GRCh38)
                                10:27313479 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:27024549:C:A,NC_000010.11:27024549:C:T
                                Gene:
                                ANKRD26 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained,missense_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.27024550C>A, NC_000010.11:g.27024550C>T, NC_000010.10:g.27313479C>A, NC_000010.10:g.27313479C>T, NG_031973.2:g.80949G>T, NG_031973.2:g.80949G>A, NM_014915.3:c.3982G>T, NM_014915.3:c.3982G>A, NM_014915.2:c.3982G>T, NM_014915.2:c.3982G>A, NM_001256053.2:c.3979G>T, NM_001256053.2:c.3979G>A, NM_001256053.1:c.3979G>T, NM_001256053.1:c.3979G>A, XM_006717425.5:c.5068G>T, XM_006717425.5:c.5068G>A, XM_006717425.4:c.5068G>T, XM_006717425.4:c.5068G>A, XM_006717425.3:c.5068G>T, XM_006717425.3:c.5068G>A, XM_006717425.2:c.5068G>T, XM_006717425.2:c.5068G>A, XM_006717425.1:c.5068G>T, XM_006717425.1:c.5068G>A, XM_006717423.3:c.5068G>T, XM_006717423.3:c.5068G>A, XM_006717423.2:c.5068G>T, XM_006717423.2:c.5068G>A, XM_006717423.1:c.5068G>T, XM_006717423.1:c.5068G>A, XM_011519416.3:c.5068G>T, XM_011519416.3:c.5068G>A, XM_011519416.2:c.5068G>T, XM_011519416.2:c.5068G>A, XM_011519416.1:c.5068G>T, XM_011519416.1:c.5068G>A, XM_017015929.2:c.5056G>T, XM_017015929.2:c.5056G>A, XM_017015929.1:c.5056G>T, XM_017015929.1:c.5056G>A, XM_017015928.2:c.5068G>T, XM_017015928.2:c.5068G>A, XM_017015928.1:c.5068G>T, XM_017015928.1:c.5068G>A, XM_017015932.2:c.5068G>T, XM_017015932.2:c.5068G>A, XM_017015932.1:c.5068G>T, XM_017015932.1:c.5068G>A, XM_047424822.1:c.5068G>T, XM_047424822.1:c.5068G>A, XM_047424828.1:c.3982G>T, XM_047424828.1:c.3982G>A, XM_047424821.1:c.5068G>T, XM_047424821.1:c.5068G>A, XM_047424824.1:c.5065G>T, XM_047424824.1:c.5065G>A, XM_047424826.1:c.5068G>T, XM_047424826.1:c.5068G>A, XM_047424827.1:c.3880G>T, XM_047424827.1:c.3880G>A, XM_047424825.1:c.5068G>T, XM_047424825.1:c.5068G>A, XM_047424830.1:c.3979G>T, XM_047424830.1:c.3979G>A, XM_047424832.1:c.3880G>T, XM_047424832.1:c.3880G>A, NP_055730.2:p.Glu1328Ter, NP_055730.2:p.Glu1328Lys, NP_001242982.1:p.Glu1327Ter, NP_001242982.1:p.Glu1327Lys, XP_006717488.1:p.Glu1690Ter, XP_006717488.1:p.Glu1690Lys, XP_006717486.1:p.Glu1690Ter, XP_006717486.1:p.Glu1690Lys, XP_011517718.1:p.Glu1690Ter, XP_011517718.1:p.Glu1690Lys, XP_016871418.1:p.Glu1686Ter, XP_016871418.1:p.Glu1686Lys, XP_016871417.1:p.Glu1690Ter, XP_016871417.1:p.Glu1690Lys, XP_016871421.1:p.Glu1690Ter, XP_016871421.1:p.Glu1690Lys, XP_047280778.1:p.Glu1690Ter, XP_047280778.1:p.Glu1690Lys, XP_047280784.1:p.Glu1328Ter, XP_047280784.1:p.Glu1328Lys, XP_047280777.1:p.Glu1690Ter, XP_047280777.1:p.Glu1690Lys, XP_047280780.1:p.Glu1689Ter, XP_047280780.1:p.Glu1689Lys, XP_047280782.1:p.Glu1690Ter, XP_047280782.1:p.Glu1690Lys, XP_047280783.1:p.Glu1294Ter, XP_047280783.1:p.Glu1294Lys, XP_047280781.1:p.Glu1690Ter, XP_047280781.1:p.Glu1690Lys, XP_047280786.1:p.Glu1327Ter, XP_047280786.1:p.Glu1327Lys, XP_047280788.1:p.Glu1294Ter, XP_047280788.1:p.Glu1294Lys

                                16.

                                rs1480873954 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  10:27035570 (GRCh38)
                                  10:27324499 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:27035569:T:C
                                  Gene:
                                  ANKRD26 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000014/2 (GnomAD)
                                  C=0.000071/1 (TOMMO)
                                  HGVS:
                                  NC_000010.11:g.27035570T>C, NC_000010.10:g.27324499T>C, NG_031973.2:g.69929A>G, NM_014915.3:c.2880A>G, NM_014915.2:c.2880A>G, NM_001256053.2:c.2877A>G, NM_001256053.1:c.2877A>G, XM_006717425.5:c.3966A>G, XM_006717425.4:c.3966A>G, XM_006717425.3:c.3966A>G, XM_006717425.2:c.3966A>G, XM_006717425.1:c.3966A>G, XM_006717423.3:c.3966A>G, XM_006717423.2:c.3966A>G, XM_006717423.1:c.3966A>G, XM_011519416.3:c.3966A>G, XM_011519416.2:c.3966A>G, XM_011519416.1:c.3966A>G, XM_017015929.2:c.3954A>G, XM_017015929.1:c.3954A>G, XM_017015928.2:c.3966A>G, XM_017015928.1:c.3966A>G, XM_017015932.2:c.3966A>G, XM_017015932.1:c.3966A>G, XM_047424822.1:c.3966A>G, XM_047424828.1:c.2880A>G, XM_047424821.1:c.3966A>G, XM_047424824.1:c.3963A>G, XM_047424826.1:c.3966A>G, XM_047424827.1:c.2778A>G, XM_047424825.1:c.3966A>G, XM_047424830.1:c.2877A>G, XM_047424832.1:c.2778A>G, XM_047424831.1:c.3966A>G, NP_055730.2:p.Ile960Met, NP_001242982.1:p.Ile959Met, XP_006717488.1:p.Ile1322Met, XP_006717486.1:p.Ile1322Met, XP_011517718.1:p.Ile1322Met, XP_016871418.1:p.Ile1318Met, XP_016871417.1:p.Ile1322Met, XP_016871421.1:p.Ile1322Met, XP_047280778.1:p.Ile1322Met, XP_047280784.1:p.Ile960Met, XP_047280777.1:p.Ile1322Met, XP_047280780.1:p.Ile1321Met, XP_047280782.1:p.Ile1322Met, XP_047280783.1:p.Ile926Met, XP_047280781.1:p.Ile1322Met, XP_047280786.1:p.Ile959Met, XP_047280788.1:p.Ile926Met, XP_047280787.1:p.Ile1322Met

                                  17.

                                  rs1480582714 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    10:27035310 (GRCh38)
                                    10:27324239 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:27035309:T:C
                                    Gene:
                                    ANKRD26 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.27035310T>C, NC_000010.10:g.27324239T>C, NG_031973.2:g.70189A>G, NM_014915.3:c.3140A>G, NM_014915.2:c.3140A>G, NM_001256053.2:c.3137A>G, NM_001256053.1:c.3137A>G, XM_006717425.5:c.4226A>G, XM_006717425.4:c.4226A>G, XM_006717425.3:c.4226A>G, XM_006717425.2:c.4226A>G, XM_006717425.1:c.4226A>G, XM_006717423.3:c.4226A>G, XM_006717423.2:c.4226A>G, XM_006717423.1:c.4226A>G, XM_011519416.3:c.4226A>G, XM_011519416.2:c.4226A>G, XM_011519416.1:c.4226A>G, XM_017015929.2:c.4214A>G, XM_017015929.1:c.4214A>G, XM_017015928.2:c.4226A>G, XM_017015928.1:c.4226A>G, XM_017015932.2:c.4226A>G, XM_017015932.1:c.4226A>G, XM_047424822.1:c.4226A>G, XM_047424828.1:c.3140A>G, XM_047424821.1:c.4226A>G, XM_047424824.1:c.4223A>G, XM_047424826.1:c.4226A>G, XM_047424827.1:c.3038A>G, XM_047424825.1:c.4226A>G, XM_047424830.1:c.3137A>G, XM_047424832.1:c.3038A>G, XM_047424831.1:c.4226A>G, NP_055730.2:p.Lys1047Arg, NP_001242982.1:p.Lys1046Arg, XP_006717488.1:p.Lys1409Arg, XP_006717486.1:p.Lys1409Arg, XP_011517718.1:p.Lys1409Arg, XP_016871418.1:p.Lys1405Arg, XP_016871417.1:p.Lys1409Arg, XP_016871421.1:p.Lys1409Arg, XP_047280778.1:p.Lys1409Arg, XP_047280784.1:p.Lys1047Arg, XP_047280777.1:p.Lys1409Arg, XP_047280780.1:p.Lys1408Arg, XP_047280782.1:p.Lys1409Arg, XP_047280783.1:p.Lys1013Arg, XP_047280781.1:p.Lys1409Arg, XP_047280786.1:p.Lys1046Arg, XP_047280788.1:p.Lys1013Arg, XP_047280787.1:p.Lys1409Arg

                                    18.

                                    rs1479604033 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:27034984 (GRCh38)
                                      10:27323913 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:27034983:T:C
                                      Gene:
                                      ANKRD26 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.27034984T>C, NC_000010.10:g.27323913T>C, NG_031973.2:g.70515A>G, NM_014915.3:c.3466A>G, NM_014915.2:c.3466A>G, NM_001256053.2:c.3463A>G, NM_001256053.1:c.3463A>G, XM_006717425.5:c.4552A>G, XM_006717425.4:c.4552A>G, XM_006717425.3:c.4552A>G, XM_006717425.2:c.4552A>G, XM_006717425.1:c.4552A>G, XM_006717423.3:c.4552A>G, XM_006717423.2:c.4552A>G, XM_006717423.1:c.4552A>G, XM_011519416.3:c.4552A>G, XM_011519416.2:c.4552A>G, XM_011519416.1:c.4552A>G, XM_017015929.2:c.4540A>G, XM_017015929.1:c.4540A>G, XM_017015928.2:c.4552A>G, XM_017015928.1:c.4552A>G, XM_017015932.2:c.4552A>G, XM_017015932.1:c.4552A>G, XM_047424822.1:c.4552A>G, XM_047424828.1:c.3466A>G, XM_047424821.1:c.4552A>G, XM_047424824.1:c.4549A>G, XM_047424826.1:c.4552A>G, XM_047424827.1:c.3364A>G, XM_047424825.1:c.4552A>G, XM_047424830.1:c.3463A>G, XM_047424832.1:c.3364A>G, XM_047424831.1:c.4552A>G, NP_055730.2:p.Lys1156Glu, NP_001242982.1:p.Lys1155Glu, XP_006717488.1:p.Lys1518Glu, XP_006717486.1:p.Lys1518Glu, XP_011517718.1:p.Lys1518Glu, XP_016871418.1:p.Lys1514Glu, XP_016871417.1:p.Lys1518Glu, XP_016871421.1:p.Lys1518Glu, XP_047280778.1:p.Lys1518Glu, XP_047280784.1:p.Lys1156Glu, XP_047280777.1:p.Lys1518Glu, XP_047280780.1:p.Lys1517Glu, XP_047280782.1:p.Lys1518Glu, XP_047280783.1:p.Lys1122Glu, XP_047280781.1:p.Lys1518Glu, XP_047280786.1:p.Lys1155Glu, XP_047280788.1:p.Lys1122Glu, XP_047280787.1:p.Lys1518Glu

                                      19.

                                      rs1477653978 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:27035706 (GRCh38)
                                        10:27324635 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:27035705:C:T
                                        Gene:
                                        ANKRD26 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.27035706C>T, NC_000010.10:g.27324635C>T, NG_031973.2:g.69793G>A, NM_014915.3:c.2744G>A, NM_014915.2:c.2744G>A, NM_001256053.2:c.2741G>A, NM_001256053.1:c.2741G>A, XM_006717425.5:c.3830G>A, XM_006717425.4:c.3830G>A, XM_006717425.3:c.3830G>A, XM_006717425.2:c.3830G>A, XM_006717425.1:c.3830G>A, XM_006717423.3:c.3830G>A, XM_006717423.2:c.3830G>A, XM_006717423.1:c.3830G>A, XM_011519416.3:c.3830G>A, XM_011519416.2:c.3830G>A, XM_011519416.1:c.3830G>A, XM_017015929.2:c.3818G>A, XM_017015929.1:c.3818G>A, XM_017015928.2:c.3830G>A, XM_017015928.1:c.3830G>A, XM_017015932.2:c.3830G>A, XM_017015932.1:c.3830G>A, XM_047424822.1:c.3830G>A, XM_047424828.1:c.2744G>A, XM_047424821.1:c.3830G>A, XM_047424824.1:c.3827G>A, XM_047424826.1:c.3830G>A, XM_047424827.1:c.2642G>A, XM_047424825.1:c.3830G>A, XM_047424830.1:c.2741G>A, XM_047424832.1:c.2642G>A, XM_047424831.1:c.3830G>A, NP_055730.2:p.Ser915Asn, NP_001242982.1:p.Ser914Asn, XP_006717488.1:p.Ser1277Asn, XP_006717486.1:p.Ser1277Asn, XP_011517718.1:p.Ser1277Asn, XP_016871418.1:p.Ser1273Asn, XP_016871417.1:p.Ser1277Asn, XP_016871421.1:p.Ser1277Asn, XP_047280778.1:p.Ser1277Asn, XP_047280784.1:p.Ser915Asn, XP_047280777.1:p.Ser1277Asn, XP_047280780.1:p.Ser1276Asn, XP_047280782.1:p.Ser1277Asn, XP_047280783.1:p.Ser881Asn, XP_047280781.1:p.Ser1277Asn, XP_047280786.1:p.Ser914Asn, XP_047280788.1:p.Ser881Asn, XP_047280787.1:p.Ser1277Asn

                                        20.

                                        rs1475727484 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:27093363 (GRCh38)
                                          10:27382292 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:27093362:C:T
                                          Gene:
                                          ANKRD26 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.0003/3 (ALFA)
                                          HGVS:
                                          NC_000010.11:g.27093363C>T, NC_000010.10:g.27382292C>T, NG_031973.2:g.12136G>A, NM_014915.3:c.517G>A, NM_014915.2:c.517G>A, NM_001256053.2:c.517G>A, NM_001256053.1:c.517G>A, XM_006717425.5:c.517G>A, XM_006717425.4:c.517G>A, XM_006717425.3:c.517G>A, XM_006717425.2:c.517G>A, XM_006717425.1:c.517G>A, XM_006717423.3:c.517G>A, XM_006717423.2:c.517G>A, XM_006717423.1:c.517G>A, XM_011519416.3:c.517G>A, XM_011519416.2:c.517G>A, XM_011519416.1:c.517G>A, XM_017015929.2:c.517G>A, XM_017015929.1:c.517G>A, XM_017015928.2:c.517G>A, XM_017015928.1:c.517G>A, XM_017015932.2:c.517G>A, XM_017015932.1:c.517G>A, XM_047424822.1:c.517G>A, XM_047424828.1:c.517G>A, XM_047424821.1:c.517G>A, XM_047424824.1:c.517G>A, XM_047424826.1:c.517G>A, XM_047424827.1:c.517G>A, XM_047424825.1:c.517G>A, XM_047424830.1:c.517G>A, XM_047424832.1:c.517G>A, XM_047424831.1:c.517G>A, XM_047424833.1:c.517G>A, NP_055730.2:p.Glu173Lys, NP_001242982.1:p.Glu173Lys, XP_006717488.1:p.Glu173Lys, XP_006717486.1:p.Glu173Lys, XP_011517718.1:p.Glu173Lys, XP_016871418.1:p.Glu173Lys, XP_016871417.1:p.Glu173Lys, XP_016871421.1:p.Glu173Lys, XP_047280778.1:p.Glu173Lys, XP_047280784.1:p.Glu173Lys, XP_047280777.1:p.Glu173Lys, XP_047280780.1:p.Glu173Lys, XP_047280782.1:p.Glu173Lys, XP_047280783.1:p.Glu173Lys, XP_047280781.1:p.Glu173Lys, XP_047280786.1:p.Glu173Lys, XP_047280788.1:p.Glu173Lys, XP_047280787.1:p.Glu173Lys, XP_047280789.1:p.Glu173Lys

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