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Items: 1 to 20 of 558

1.

rs1490783223 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    20:3797695 (GRCh38)
    20:3778342 (GRCh37)
    Canonical SPDI:
    NC_000020.11:3797694:C:A,NC_000020.11:3797694:C:G
    Gene:
    CDC25B (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000031/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000020.11:g.3797695C>A, NC_000020.11:g.3797695C>G, NC_000020.10:g.3778342C>A, NC_000020.10:g.3778342C>G, NG_029040.2:g.15924C>A, NG_029040.2:g.15924C>G, NM_004358.5:c.232C>A, NM_004358.5:c.232C>G, NM_004358.4:c.232C>A, NM_004358.4:c.232C>G, NM_004358.3:c.232C>A, NM_004358.3:c.232C>G, NM_021873.4:c.274C>A, NM_021873.4:c.274C>G, NM_021873.3:c.274C>A, NM_021873.3:c.274C>G, NM_021873.2:c.274C>A, NM_021873.2:c.274C>G, NM_021872.4:c.274C>A, NM_021872.4:c.274C>G, NM_021872.3:c.274C>A, NM_021872.3:c.274C>G, NM_021872.2:c.274C>A, NM_021872.2:c.274C>G, NR_136336.2:n.263C>A, NR_136336.2:n.263C>G, NR_136336.1:n.442C>A, NR_136336.1:n.442C>G, NM_001287516.2:c.82C>A, NM_001287516.2:c.82C>G, NM_001287516.1:c.82C>A, NM_001287516.1:c.82C>G, NR_136335.2:n.165C>A, NR_136335.2:n.165C>G, NR_136335.1:n.215C>A, NR_136335.1:n.215C>G, NM_001287517.2:c.40C>A, NM_001287517.2:c.40C>G, NM_001287517.1:c.40C>A, NM_001287517.1:c.40C>G, NM_001287518.2:c.82C>A, NM_001287518.2:c.82C>G, NM_001287518.1:c.82C>A, NM_001287518.1:c.82C>G, NM_001287520.2:c.-63C>A, NM_001287520.2:c.-63C>G, NM_001287520.1:c.-63C>A, NM_001287520.1:c.-63C>G, NM_001287519.2:c.-63C>A, NM_001287519.2:c.-63C>G, NM_001287519.1:c.-63C>A, NM_001287519.1:c.-63C>G, NM_001287522.2:c.-63C>A, NM_001287522.2:c.-63C>G, NM_001287522.1:c.-63C>A, NM_001287522.1:c.-63C>G, NM_021874.2:c.232C>A, NM_021874.2:c.232C>G, NM_021874.1:c.232C>A, NM_021874.1:c.232C>G, NM_212530.1:c.-63C>A, NM_212530.1:c.-63C>G, XM_047440628.1:c.274C>A, XM_047440628.1:c.274C>G, NP_004349.1:p.Arg78Gly, NP_068659.1:p.Arg92Gly, NP_068658.1:p.Arg92Gly, NP_001274445.1:p.Arg28Gly, NP_001274446.1:p.Arg14Gly, NP_001274447.1:p.Arg28Gly, XP_047296584.1:p.Arg92Gly

    2.

    rs1489433928 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G [Show Flanks]
      Chromosome:
      20:3801780 (GRCh38)
      20:3782427 (GRCh37)
      Canonical SPDI:
      NC_000020.11:3801779:C:A,NC_000020.11:3801779:C:G
      Gene:
      CDC25B (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000020.11:g.3801780C>A, NC_000020.11:g.3801780C>G, NC_000020.10:g.3782427C>A, NC_000020.10:g.3782427C>G, NG_029040.2:g.20009C>A, NG_029040.2:g.20009C>G, NM_004358.5:c.857C>A, NM_004358.5:c.857C>G, NM_004358.4:c.857C>A, NM_004358.4:c.857C>G, NM_004358.3:c.857C>A, NM_004358.3:c.857C>G, NM_021873.4:c.899C>A, NM_021873.4:c.899C>G, NM_021873.3:c.899C>A, NM_021873.3:c.899C>G, NM_021873.2:c.899C>A, NM_021873.2:c.899C>G, NM_021872.4:c.776C>A, NM_021872.4:c.776C>G, NM_021872.3:c.776C>A, NM_021872.3:c.776C>G, NM_021872.2:c.776C>A, NM_021872.2:c.776C>G, NR_136336.2:n.888C>A, NR_136336.2:n.888C>G, NR_136336.1:n.1067C>A, NR_136336.1:n.1067C>G, NM_001287516.2:c.707C>A, NM_001287516.2:c.707C>G, NM_001287516.1:c.707C>A, NM_001287516.1:c.707C>G, NR_136335.2:n.790C>A, NR_136335.2:n.790C>G, NR_136335.1:n.840C>A, NR_136335.1:n.840C>G, NM_001287517.2:c.665C>A, NM_001287517.2:c.665C>G, NM_001287517.1:c.665C>A, NM_001287517.1:c.665C>G, NM_001287520.2:c.563C>A, NM_001287520.2:c.563C>G, NM_001287520.1:c.563C>A, NM_001287520.1:c.563C>G, NM_001287519.2:c.563C>A, NM_001287519.2:c.563C>G, NM_001287519.1:c.563C>A, NM_001287519.1:c.563C>G, NM_001287522.2:c.440C>A, NM_001287522.2:c.440C>G, NM_001287522.1:c.440C>A, NM_001287522.1:c.440C>G, NM_001287524.2:c.323C>A, NM_001287524.2:c.323C>G, NM_001287524.1:c.323C>A, NM_001287524.1:c.323C>G, NM_021874.2:c.962C>A, NM_021874.2:c.962C>G, NM_021874.1:c.962C>A, NM_021874.1:c.962C>G, NM_212530.1:c.563C>A, NM_212530.1:c.563C>G, XM_047440628.1:c.899C>A, XM_047440628.1:c.899C>G, NP_004349.1:p.Thr286Asn, NP_004349.1:p.Thr286Ser, NP_068659.1:p.Thr300Asn, NP_068659.1:p.Thr300Ser, NP_068658.1:p.Thr259Asn, NP_068658.1:p.Thr259Ser, NP_001274445.1:p.Thr236Asn, NP_001274445.1:p.Thr236Ser, NP_001274446.1:p.Thr222Asn, NP_001274446.1:p.Thr222Ser, NP_001274449.1:p.Thr188Asn, NP_001274449.1:p.Thr188Ser, NP_001274448.1:p.Thr188Asn, NP_001274448.1:p.Thr188Ser, NP_001274451.1:p.Thr147Asn, NP_001274451.1:p.Thr147Ser, NP_001274453.1:p.Thr108Asn, NP_001274453.1:p.Thr108Ser, XP_047296584.1:p.Thr300Asn, XP_047296584.1:p.Thr300Ser

      3.

      rs1488303200 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        20:3797749 (GRCh38)
        20:3778396 (GRCh37)
        Canonical SPDI:
        NC_000020.11:3797748:G:T
        Gene:
        CDC25B (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
        HGVS:
        NC_000020.11:g.3797749G>T, NC_000020.10:g.3778396G>T, NG_029040.2:g.15978G>T, NM_004358.5:c.286G>T, NM_004358.4:c.286G>T, NM_004358.3:c.286G>T, NM_021873.4:c.328G>T, NM_021873.3:c.328G>T, NM_021873.2:c.328G>T, NM_021872.4:c.328G>T, NM_021872.3:c.328G>T, NM_021872.2:c.328G>T, NR_136336.2:n.317G>T, NR_136336.1:n.496G>T, NM_001287516.2:c.136G>T, NM_001287516.1:c.136G>T, NR_136335.2:n.219G>T, NR_136335.1:n.269G>T, NM_001287517.2:c.94G>T, NM_001287517.1:c.94G>T, NM_001287518.2:c.136G>T, NM_001287518.1:c.136G>T, NM_001287520.2:c.-9G>T, NM_001287520.1:c.-9G>T, NM_001287519.2:c.-9G>T, NM_001287519.1:c.-9G>T, NM_001287522.2:c.-9G>T, NM_001287522.1:c.-9G>T, NM_021874.2:c.286G>T, NM_021874.1:c.286G>T, NM_212530.1:c.-9G>T, XM_047440628.1:c.328G>T, NP_004349.1:p.Gly96Cys, NP_068659.1:p.Gly110Cys, NP_068658.1:p.Gly110Cys, NP_001274445.1:p.Gly46Cys, NP_001274446.1:p.Gly32Cys, NP_001274447.1:p.Gly46Cys, XP_047296584.1:p.Gly110Cys

        4.

        rs1484447777 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:3801999 (GRCh38)
          20:3782646 (GRCh37)
          Canonical SPDI:
          NC_000020.11:3801998:C:T
          Gene:
          CDC25B (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          HGVS:
          NC_000020.11:g.3801999C>T, NC_000020.10:g.3782646C>T, NG_029040.2:g.20228C>T, NM_004358.5:c.955C>T, NM_004358.4:c.955C>T, NM_004358.3:c.955C>T, NM_021873.4:c.997C>T, NM_021873.3:c.997C>T, NM_021873.2:c.997C>T, NM_021872.4:c.874C>T, NM_021872.3:c.874C>T, NM_021872.2:c.874C>T, NR_136336.2:n.986C>T, NR_136336.1:n.1165C>T, NM_001287516.2:c.805C>T, NM_001287516.1:c.805C>T, NR_136335.2:n.888C>T, NR_136335.1:n.938C>T, NM_001287517.2:c.763C>T, NM_001287517.1:c.763C>T, NM_001287518.2:c.724C>T, NM_001287518.1:c.724C>T, NM_001287520.2:c.661C>T, NM_001287520.1:c.661C>T, NM_001287519.2:c.661C>T, NM_001287519.1:c.661C>T, NM_001287522.2:c.538C>T, NM_001287522.1:c.538C>T, NM_001287524.2:c.421C>T, NM_001287524.1:c.421C>T, NM_021874.2:c.1060C>T, NM_021874.1:c.1060C>T, NM_212530.1:c.661C>T, XM_047440628.1:c.997C>T, NP_004349.1:p.Leu319Phe, NP_068659.1:p.Leu333Phe, NP_068658.1:p.Leu292Phe, NP_001274445.1:p.Leu269Phe, NP_001274446.1:p.Leu255Phe, NP_001274447.1:p.Leu242Phe, NP_001274449.1:p.Leu221Phe, NP_001274448.1:p.Leu221Phe, NP_001274451.1:p.Leu180Phe, NP_001274453.1:p.Leu141Phe, XP_047296584.1:p.Leu333Phe

          5.

          rs1483841139 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->TTTTTT,TTTTTTAA [Show Flanks]
            Chromosome:
            20:3802326 (GRCh38)
            20:3782974 (GRCh37)
            Canonical SPDI:
            NC_000020.11:3802326::TTTTTT,NC_000020.11:3802326::TTTTTTAA
            Gene:
            CDC25B (Varview)
            Functional Consequence:
            coding_sequence_variant,stop_gained,non_coding_transcript_variant,inframe_indel
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTT=0.00024/4 (ALFA)
            TTTTTT=0.00089/4 (Estonian)
            HGVS:
            NC_000020.11:g.3802326_3802327insTTTTTT, NC_000020.11:g.3802326_3802327insTTTTTTAA, NC_000020.10:g.3782973_3782974insTTTTTT, NC_000020.10:g.3782973_3782974insTTTTTTAA, NG_029040.2:g.20555_20556insTTTTTT, NG_029040.2:g.20555_20556insTTTTTTAA, NM_004358.5:c.1102_1103insTTTTTT, NM_004358.5:c.1102_1103insTTTTTTAA, NM_004358.4:c.1102_1103insTTTTTT, NM_004358.4:c.1102_1103insTTTTTTAA, NM_004358.3:c.1102_1103insTTTTTT, NM_004358.3:c.1102_1103insTTTTTTAA, NM_021873.4:c.1144_1145insTTTTTT, NM_021873.4:c.1144_1145insTTTTTTAA, NM_021873.3:c.1144_1145insTTTTTT, NM_021873.3:c.1144_1145insTTTTTTAA, NM_021873.2:c.1144_1145insTTTTTT, NM_021873.2:c.1144_1145insTTTTTTAA, NM_021872.4:c.1021_1022insTTTTTT, NM_021872.4:c.1021_1022insTTTTTTAA, NM_021872.3:c.1021_1022insTTTTTT, NM_021872.3:c.1021_1022insTTTTTTAA, NM_021872.2:c.1021_1022insTTTTTT, NM_021872.2:c.1021_1022insTTTTTTAA, NR_136336.2:n.1133_1134insTTTTTT, NR_136336.2:n.1133_1134insTTTTTTAA, NR_136336.1:n.1312_1313insTTTTTT, NR_136336.1:n.1312_1313insTTTTTTAA, NM_001287516.2:c.952_953insTTTTTT, NM_001287516.2:c.952_953insTTTTTTAA, NM_001287516.1:c.952_953insTTTTTT, NM_001287516.1:c.952_953insTTTTTTAA, NR_136335.2:n.1035_1036insTTTTTT, NR_136335.2:n.1035_1036insTTTTTTAA, NR_136335.1:n.1085_1086insTTTTTT, NR_136335.1:n.1085_1086insTTTTTTAA, NM_001287517.2:c.910_911insTTTTTT, NM_001287517.2:c.910_911insTTTTTTAA, NM_001287517.1:c.910_911insTTTTTT, NM_001287517.1:c.910_911insTTTTTTAA, NM_001287518.2:c.871_872insTTTTTT, NM_001287518.2:c.871_872insTTTTTTAA, NM_001287518.1:c.871_872insTTTTTT, NM_001287518.1:c.871_872insTTTTTTAA, NM_001287520.2:c.808_809insTTTTTT, NM_001287520.2:c.808_809insTTTTTTAA, NM_001287520.1:c.808_809insTTTTTT, NM_001287520.1:c.808_809insTTTTTTAA, NM_001287519.2:c.808_809insTTTTTT, NM_001287519.2:c.808_809insTTTTTTAA, NM_001287519.1:c.808_809insTTTTTT, NM_001287519.1:c.808_809insTTTTTTAA, NM_001287522.2:c.685_686insTTTTTT, NM_001287522.2:c.685_686insTTTTTTAA, NM_001287522.1:c.685_686insTTTTTT, NM_001287522.1:c.685_686insTTTTTTAA, NM_001287524.2:c.568_569insTTTTTT, NM_001287524.2:c.568_569insTTTTTTAA, NM_001287524.1:c.568_569insTTTTTT, NM_001287524.1:c.568_569insTTTTTTAA, NM_021874.2:c.1207_1208insTTTTTT, NM_021874.2:c.1207_1208insTTTTTTAA, NM_021874.1:c.1207_1208insTTTTTT, NM_021874.1:c.1207_1208insTTTTTTAA, NM_212530.1:c.808_809insTTTTTT, NM_212530.1:c.808_809insTTTTTTAA, XM_047440628.1:c.1144_1145insTTTTTT, XM_047440628.1:c.1144_1145insTTTTTTAA, NP_004349.1:p.Glu368delinsValPheTer, NP_004349.1:p.Glu368delinsValPheTer, NP_068659.1:p.Glu382delinsValPheTer, NP_068659.1:p.Glu382delinsValPheTer, NP_068658.1:p.Glu341delinsValPheTer, NP_068658.1:p.Glu341delinsValPheTer, NP_001274445.1:p.Glu318delinsValPheTer, NP_001274445.1:p.Glu318delinsValPheTer, NP_001274446.1:p.Glu304delinsValPheTer, NP_001274446.1:p.Glu304delinsValPheTer, NP_001274447.1:p.Glu291delinsValPheTer, NP_001274447.1:p.Glu291delinsValPheTer, NP_001274449.1:p.Glu270delinsValPheTer, NP_001274449.1:p.Glu270delinsValPheTer, NP_001274448.1:p.Glu270delinsValPheTer, NP_001274448.1:p.Glu270delinsValPheTer, NP_001274451.1:p.Glu229delinsValPheTer, NP_001274451.1:p.Glu229delinsValPheTer, NP_001274453.1:p.Glu190delinsValPheTer, NP_001274453.1:p.Glu190delinsValPheTer, XP_047296584.1:p.Glu382delinsValPheTer, XP_047296584.1:p.Glu382delinsValPheTer

            6.

            rs1477924184 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:3802010 (GRCh38)
              20:3782657 (GRCh37)
              Canonical SPDI:
              NC_000020.11:3802009:G:A
              Gene:
              CDC25B (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000028/1 (ALFA)
              A=0.000005/1 (GnomAD_exomes)
              A=0.000007/1 (GnomAD)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000020.11:g.3802010G>A, NC_000020.10:g.3782657G>A, NG_029040.2:g.20239G>A, NM_004358.5:c.966G>A, NM_004358.4:c.966G>A, NM_004358.3:c.966G>A, NM_021873.4:c.1008G>A, NM_021873.3:c.1008G>A, NM_021873.2:c.1008G>A, NM_021872.4:c.885G>A, NM_021872.3:c.885G>A, NM_021872.2:c.885G>A, NR_136336.2:n.997G>A, NR_136336.1:n.1176G>A, NM_001287516.2:c.816G>A, NM_001287516.1:c.816G>A, NR_136335.2:n.899G>A, NR_136335.1:n.949G>A, NM_001287517.2:c.774G>A, NM_001287517.1:c.774G>A, NM_001287518.2:c.735G>A, NM_001287518.1:c.735G>A, NM_001287520.2:c.672G>A, NM_001287520.1:c.672G>A, NM_001287519.2:c.672G>A, NM_001287519.1:c.672G>A, NM_001287522.2:c.549G>A, NM_001287522.1:c.549G>A, NM_001287524.2:c.432G>A, NM_001287524.1:c.432G>A, NM_021874.2:c.1071G>A, NM_021874.1:c.1071G>A, NM_212530.1:c.672G>A, XM_047440628.1:c.1008G>A

              7.

              rs1475866511 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                20:3804878 (GRCh38)
                20:3785525 (GRCh37)
                Canonical SPDI:
                NC_000020.11:3804877:C:T
                Gene:
                CDC25B (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000020.11:g.3804878C>T, NC_000020.10:g.3785525C>T, NG_029040.2:g.23107C>T, NM_004358.5:c.1618C>T, NM_004358.4:c.1618C>T, NM_004358.3:c.1618C>T, NM_021873.4:c.1660C>T, NM_021873.3:c.1660C>T, NM_021873.2:c.1660C>T, NM_021872.4:c.1537C>T, NM_021872.3:c.1537C>T, NM_021872.2:c.1537C>T, NR_136336.2:n.1728C>T, NR_136336.1:n.1907C>T, NM_001287516.2:c.1468C>T, NM_001287516.1:c.1468C>T, NR_136335.2:n.1630C>T, NR_136335.1:n.1680C>T, NM_001287517.2:c.1426C>T, NM_001287517.1:c.1426C>T, NM_001287518.2:c.1387C>T, NM_001287518.1:c.1387C>T, NM_001287520.2:c.1324C>T, NM_001287520.1:c.1324C>T, NM_001287519.2:c.1324C>T, NM_001287519.1:c.1324C>T, NM_001287522.2:c.1201C>T, NM_001287522.1:c.1201C>T, NM_001287524.2:c.1084C>T, NM_001287524.1:c.1084C>T, NM_021874.2:c.1723C>T, NM_021874.1:c.1723C>T, NM_212530.1:c.1324C>T

                8.

                rs1474336302 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  20:3802342 (GRCh38)
                  20:3782989 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:3802341:G:A
                  Gene:
                  CDC25B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000020.11:g.3802342G>A, NC_000020.10:g.3782989G>A, NG_029040.2:g.20571G>A, NM_004358.5:c.1118G>A, NM_004358.4:c.1118G>A, NM_004358.3:c.1118G>A, NM_021873.4:c.1160G>A, NM_021873.3:c.1160G>A, NM_021873.2:c.1160G>A, NM_021872.4:c.1037G>A, NM_021872.3:c.1037G>A, NM_021872.2:c.1037G>A, NR_136336.2:n.1149G>A, NR_136336.1:n.1328G>A, NM_001287516.2:c.968G>A, NM_001287516.1:c.968G>A, NR_136335.2:n.1051G>A, NR_136335.1:n.1101G>A, NM_001287517.2:c.926G>A, NM_001287517.1:c.926G>A, NM_001287518.2:c.887G>A, NM_001287518.1:c.887G>A, NM_001287520.2:c.824G>A, NM_001287520.1:c.824G>A, NM_001287519.2:c.824G>A, NM_001287519.1:c.824G>A, NM_001287522.2:c.701G>A, NM_001287522.1:c.701G>A, NM_001287524.2:c.584G>A, NM_001287524.1:c.584G>A, NM_021874.2:c.1223G>A, NM_021874.1:c.1223G>A, NM_212530.1:c.824G>A, XM_047440628.1:c.1160G>A, NP_004349.1:p.Ser373Asn, NP_068659.1:p.Ser387Asn, NP_068658.1:p.Ser346Asn, NP_001274445.1:p.Ser323Asn, NP_001274446.1:p.Ser309Asn, NP_001274447.1:p.Ser296Asn, NP_001274449.1:p.Ser275Asn, NP_001274448.1:p.Ser275Asn, NP_001274451.1:p.Ser234Asn, NP_001274453.1:p.Ser195Asn, XP_047296584.1:p.Ser387Asn

                  9.

                  rs1471994483 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    20:3800855 (GRCh38)
                    20:3781502 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:3800854:A:T
                    Gene:
                    CDC25B (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    HGVS:
                    NC_000020.11:g.3800855A>T, NC_000020.10:g.3781502A>T, NG_029040.2:g.19084A>T, NM_004358.5:c.530A>T, NM_004358.4:c.530A>T, NM_004358.3:c.530A>T, NM_021873.4:c.572A>T, NM_021873.3:c.572A>T, NM_021873.2:c.572A>T, NR_136336.2:n.561A>T, NR_136336.1:n.740A>T, NM_001287516.2:c.380A>T, NM_001287516.1:c.380A>T, NR_136335.2:n.463A>T, NR_136335.1:n.513A>T, NM_001287517.2:c.338A>T, NM_001287517.1:c.338A>T, NM_001287518.2:c.380A>T, NM_001287518.1:c.380A>T, NM_001287520.2:c.236A>T, NM_001287520.1:c.236A>T, NM_001287519.2:c.236A>T, NM_001287519.1:c.236A>T, NG_080888.1:g.454A>T, NM_021874.2:c.530A>T, NM_021874.1:c.530A>T, NM_212530.1:c.236A>T, XM_047440628.1:c.572A>T, NP_004349.1:p.Asp177Val, NP_068659.1:p.Asp191Val, NP_001274445.1:p.Asp127Val, NP_001274446.1:p.Asp113Val, NP_001274447.1:p.Asp127Val, NP_001274449.1:p.Asp79Val, NP_001274448.1:p.Asp79Val, XP_047296584.1:p.Asp191Val

                    10.

                    rs1467278000 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      20:3801373 (GRCh38)
                      20:3782020 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:3801372:A:G
                      Gene:
                      CDC25B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000020.11:g.3801373A>G, NC_000020.10:g.3782020A>G, NG_029040.2:g.19602A>G, NM_004358.5:c.783A>G, NM_004358.4:c.783A>G, NM_004358.3:c.783A>G, NM_021873.4:c.825A>G, NM_021873.3:c.825A>G, NM_021873.2:c.825A>G, NM_021872.4:c.702A>G, NM_021872.3:c.702A>G, NM_021872.2:c.702A>G, NR_136336.2:n.814A>G, NR_136336.1:n.993A>G, NM_001287516.2:c.633A>G, NM_001287516.1:c.633A>G, NR_136335.2:n.716A>G, NR_136335.1:n.766A>G, NM_001287517.2:c.591A>G, NM_001287517.1:c.591A>G, NM_001287518.2:c.633A>G, NM_001287518.1:c.633A>G, NM_001287520.2:c.489A>G, NM_001287520.1:c.489A>G, NM_001287519.2:c.489A>G, NM_001287519.1:c.489A>G, NM_001287522.2:c.366A>G, NM_001287522.1:c.366A>G, NM_001287524.2:c.249A>G, NM_001287524.1:c.249A>G, NM_021874.2:c.888A>G, NM_021874.1:c.888A>G, NM_212530.1:c.489A>G, XM_047440628.1:c.825A>G

                      11.

                      rs1466367199 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        20:3804672 (GRCh38)
                        20:3785319 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:3804671:C:T
                        Gene:
                        CDC25B (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000020.11:g.3804672C>T, NC_000020.10:g.3785319C>T, NG_029040.2:g.22901C>T, NM_004358.5:c.1552C>T, NM_004358.4:c.1552C>T, NM_004358.3:c.1552C>T, NM_021873.4:c.1594C>T, NM_021873.3:c.1594C>T, NM_021873.2:c.1594C>T, NM_021872.4:c.1471C>T, NM_021872.3:c.1471C>T, NM_021872.2:c.1471C>T, NR_136336.2:n.1662C>T, NR_136336.1:n.1841C>T, NM_001287516.2:c.1402C>T, NM_001287516.1:c.1402C>T, NR_136335.2:n.1564C>T, NR_136335.1:n.1614C>T, NM_001287517.2:c.1360C>T, NM_001287517.1:c.1360C>T, NM_001287518.2:c.1321C>T, NM_001287518.1:c.1321C>T, NM_001287520.2:c.1258C>T, NM_001287520.1:c.1258C>T, NM_001287519.2:c.1258C>T, NM_001287519.1:c.1258C>T, NM_001287522.2:c.1135C>T, NM_001287522.1:c.1135C>T, NM_001287524.2:c.1018C>T, NM_001287524.1:c.1018C>T, NM_021874.2:c.1657C>T, NM_021874.1:c.1657C>T, NM_212530.1:c.1258C>T, NP_004349.1:p.Gln518Ter, NP_068659.1:p.Gln532Ter, NP_068658.1:p.Gln491Ter, NP_001274445.1:p.Gln468Ter, NP_001274446.1:p.Gln454Ter, NP_001274447.1:p.Gln441Ter, NP_001274449.1:p.Gln420Ter, NP_001274448.1:p.Gln420Ter, NP_001274451.1:p.Gln379Ter, NP_001274453.1:p.Gln340Ter

                        12.

                        rs1464377536 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          20:3802028 (GRCh38)
                          20:3782675 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:3802027:G:T
                          Gene:
                          CDC25B (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000020.11:g.3802028G>T, NC_000020.10:g.3782675G>T, NG_029040.2:g.20257G>T, NM_004358.5:c.984G>T, NM_004358.4:c.984G>T, NM_004358.3:c.984G>T, NM_021873.4:c.1026G>T, NM_021873.3:c.1026G>T, NM_021873.2:c.1026G>T, NM_021872.4:c.903G>T, NM_021872.3:c.903G>T, NM_021872.2:c.903G>T, NR_136336.2:n.1015G>T, NR_136336.1:n.1194G>T, NM_001287516.2:c.834G>T, NM_001287516.1:c.834G>T, NR_136335.2:n.917G>T, NR_136335.1:n.967G>T, NM_001287517.2:c.792G>T, NM_001287517.1:c.792G>T, NM_001287518.2:c.753G>T, NM_001287518.1:c.753G>T, NM_001287520.2:c.690G>T, NM_001287520.1:c.690G>T, NM_001287519.2:c.690G>T, NM_001287519.1:c.690G>T, NM_001287522.2:c.567G>T, NM_001287522.1:c.567G>T, NM_001287524.2:c.450G>T, NM_001287524.1:c.450G>T, NM_021874.2:c.1089G>T, NM_021874.1:c.1089G>T, NM_212530.1:c.690G>T, XM_047440628.1:c.1026G>T, NP_004349.1:p.Arg328Ser, NP_068659.1:p.Arg342Ser, NP_068658.1:p.Arg301Ser, NP_001274445.1:p.Arg278Ser, NP_001274446.1:p.Arg264Ser, NP_001274447.1:p.Arg251Ser, NP_001274449.1:p.Arg230Ser, NP_001274448.1:p.Arg230Ser, NP_001274451.1:p.Arg189Ser, NP_001274453.1:p.Arg150Ser, XP_047296584.1:p.Arg342Ser

                          13.

                          rs1460475673 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            20:3797625 (GRCh38)
                            20:3778272 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:3797624:A:T
                            Gene:
                            CDC25B (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            HGVS:

                            14.

                            rs1460334254 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              20:3803487 (GRCh38)
                              20:3784134 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:3803486:A:G
                              Gene:
                              CDC25B (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000020.11:g.3803487A>G, NC_000020.10:g.3784134A>G, NG_029040.2:g.21716A>G, NM_004358.5:c.1398A>G, NM_004358.4:c.1398A>G, NM_004358.3:c.1398A>G, NM_021873.4:c.1440A>G, NM_021873.3:c.1440A>G, NM_021873.2:c.1440A>G, NM_021872.4:c.1317A>G, NM_021872.3:c.1317A>G, NM_021872.2:c.1317A>G, NR_136336.2:n.1508A>G, NR_136336.1:n.1687A>G, NM_001287516.2:c.1248A>G, NM_001287516.1:c.1248A>G, NR_136335.2:n.1410A>G, NR_136335.1:n.1460A>G, NM_001287517.2:c.1206A>G, NM_001287517.1:c.1206A>G, NM_001287518.2:c.1167A>G, NM_001287518.1:c.1167A>G, NM_001287520.2:c.1104A>G, NM_001287520.1:c.1104A>G, NM_001287519.2:c.1104A>G, NM_001287519.1:c.1104A>G, NM_001287522.2:c.981A>G, NM_001287522.1:c.981A>G, NM_001287524.2:c.864A>G, NM_001287524.1:c.864A>G, NM_021874.2:c.1503A>G, NM_021874.1:c.1503A>G, NM_212530.1:c.1104A>G

                              15.

                              rs1459178713 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                20:3800834 (GRCh38)
                                20:3781481 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:3800833:C:G,NC_000020.11:3800833:C:T
                                Gene:
                                CDC25B (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                NC_000020.11:g.3800834C>G, NC_000020.11:g.3800834C>T, NC_000020.10:g.3781481C>G, NC_000020.10:g.3781481C>T, NG_029040.2:g.19063C>G, NG_029040.2:g.19063C>T, NM_004358.5:c.509C>G, NM_004358.5:c.509C>T, NM_004358.4:c.509C>G, NM_004358.4:c.509C>T, NM_004358.3:c.509C>G, NM_004358.3:c.509C>T, NM_021873.4:c.551C>G, NM_021873.4:c.551C>T, NM_021873.3:c.551C>G, NM_021873.3:c.551C>T, NM_021873.2:c.551C>G, NM_021873.2:c.551C>T, NR_136336.2:n.540C>G, NR_136336.2:n.540C>T, NR_136336.1:n.719C>G, NR_136336.1:n.719C>T, NM_001287516.2:c.359C>G, NM_001287516.2:c.359C>T, NM_001287516.1:c.359C>G, NM_001287516.1:c.359C>T, NR_136335.2:n.442C>G, NR_136335.2:n.442C>T, NR_136335.1:n.492C>G, NR_136335.1:n.492C>T, NM_001287517.2:c.317C>G, NM_001287517.2:c.317C>T, NM_001287517.1:c.317C>G, NM_001287517.1:c.317C>T, NM_001287518.2:c.359C>G, NM_001287518.2:c.359C>T, NM_001287518.1:c.359C>G, NM_001287518.1:c.359C>T, NM_001287520.2:c.215C>G, NM_001287520.2:c.215C>T, NM_001287520.1:c.215C>G, NM_001287520.1:c.215C>T, NM_001287519.2:c.215C>G, NM_001287519.2:c.215C>T, NM_001287519.1:c.215C>G, NM_001287519.1:c.215C>T, NG_080888.1:g.433C>G, NG_080888.1:g.433C>T, NM_021874.2:c.509C>G, NM_021874.2:c.509C>T, NM_021874.1:c.509C>G, NM_021874.1:c.509C>T, NM_212530.1:c.215C>G, NM_212530.1:c.215C>T, XM_047440628.1:c.551C>G, XM_047440628.1:c.551C>T, NP_004349.1:p.Ala170Gly, NP_004349.1:p.Ala170Val, NP_068659.1:p.Ala184Gly, NP_068659.1:p.Ala184Val, NP_001274445.1:p.Ala120Gly, NP_001274445.1:p.Ala120Val, NP_001274446.1:p.Ala106Gly, NP_001274446.1:p.Ala106Val, NP_001274447.1:p.Ala120Gly, NP_001274447.1:p.Ala120Val, NP_001274449.1:p.Ala72Gly, NP_001274449.1:p.Ala72Val, NP_001274448.1:p.Ala72Gly, NP_001274448.1:p.Ala72Val, XP_047296584.1:p.Ala184Gly, XP_047296584.1:p.Ala184Val

                                16.

                                rs1455012842 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  20:3804657 (GRCh38)
                                  20:3785304 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:3804656:A:G
                                  Gene:
                                  CDC25B (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000047/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000020.11:g.3804657A>G, NC_000020.10:g.3785304A>G, NG_029040.2:g.22886A>G, NM_004358.5:c.1537A>G, NM_004358.4:c.1537A>G, NM_004358.3:c.1537A>G, NM_021873.4:c.1579A>G, NM_021873.3:c.1579A>G, NM_021873.2:c.1579A>G, NM_021872.4:c.1456A>G, NM_021872.3:c.1456A>G, NM_021872.2:c.1456A>G, NR_136336.2:n.1647A>G, NR_136336.1:n.1826A>G, NM_001287516.2:c.1387A>G, NM_001287516.1:c.1387A>G, NR_136335.2:n.1549A>G, NR_136335.1:n.1599A>G, NM_001287517.2:c.1345A>G, NM_001287517.1:c.1345A>G, NM_001287518.2:c.1306A>G, NM_001287518.1:c.1306A>G, NM_001287520.2:c.1243A>G, NM_001287520.1:c.1243A>G, NM_001287519.2:c.1243A>G, NM_001287519.1:c.1243A>G, NM_001287522.2:c.1120A>G, NM_001287522.1:c.1120A>G, NM_001287524.2:c.1003A>G, NM_001287524.1:c.1003A>G, NM_021874.2:c.1642A>G, NM_021874.1:c.1642A>G, NM_212530.1:c.1243A>G, NP_004349.1:p.Lys513Glu, NP_068659.1:p.Lys527Glu, NP_068658.1:p.Lys486Glu, NP_001274445.1:p.Lys463Glu, NP_001274446.1:p.Lys449Glu, NP_001274447.1:p.Lys436Glu, NP_001274449.1:p.Lys415Glu, NP_001274448.1:p.Lys415Glu, NP_001274451.1:p.Lys374Glu, NP_001274453.1:p.Lys335Glu

                                  17.

                                  rs1452468464 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    20:3802059 (GRCh38)
                                    20:3782706 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:3802058:A:G
                                    Gene:
                                    CDC25B (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000017/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.3802059A>G, NC_000020.10:g.3782706A>G, NG_029040.2:g.20288A>G, NM_004358.5:c.1015A>G, NM_004358.4:c.1015A>G, NM_004358.3:c.1015A>G, NM_021873.4:c.1057A>G, NM_021873.3:c.1057A>G, NM_021873.2:c.1057A>G, NM_021872.4:c.934A>G, NM_021872.3:c.934A>G, NM_021872.2:c.934A>G, NR_136336.2:n.1046A>G, NR_136336.1:n.1225A>G, NM_001287516.2:c.865A>G, NM_001287516.1:c.865A>G, NR_136335.2:n.948A>G, NR_136335.1:n.998A>G, NM_001287517.2:c.823A>G, NM_001287517.1:c.823A>G, NM_001287518.2:c.784A>G, NM_001287518.1:c.784A>G, NM_001287520.2:c.721A>G, NM_001287520.1:c.721A>G, NM_001287519.2:c.721A>G, NM_001287519.1:c.721A>G, NM_001287522.2:c.598A>G, NM_001287522.1:c.598A>G, NM_001287524.2:c.481A>G, NM_001287524.1:c.481A>G, NM_021874.2:c.1120A>G, NM_021874.1:c.1120A>G, NM_212530.1:c.721A>G, XM_047440628.1:c.1057A>G, NP_004349.1:p.Ser339Gly, NP_068659.1:p.Ser353Gly, NP_068658.1:p.Ser312Gly, NP_001274445.1:p.Ser289Gly, NP_001274446.1:p.Ser275Gly, NP_001274447.1:p.Ser262Gly, NP_001274449.1:p.Ser241Gly, NP_001274448.1:p.Ser241Gly, NP_001274451.1:p.Ser200Gly, NP_001274453.1:p.Ser161Gly, XP_047296584.1:p.Ser353Gly

                                    18.

                                    rs1451159309 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      20:3802972 (GRCh38)
                                      20:3783619 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:3802971:G:A
                                      Gene:
                                      CDC25B (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000066/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000020.11:g.3802972G>A, NC_000020.10:g.3783619G>A, NG_029040.2:g.21201G>A, NM_004358.5:c.1215G>A, NM_004358.4:c.1215G>A, NM_004358.3:c.1215G>A, NM_021873.4:c.1257G>A, NM_021873.3:c.1257G>A, NM_021873.2:c.1257G>A, NM_021872.4:c.1134G>A, NM_021872.3:c.1134G>A, NM_021872.2:c.1134G>A, NR_136336.2:n.1325G>A, NR_136336.1:n.1504G>A, NM_001287516.2:c.1065G>A, NM_001287516.1:c.1065G>A, NR_136335.2:n.1227G>A, NR_136335.1:n.1277G>A, NM_001287517.2:c.1023G>A, NM_001287517.1:c.1023G>A, NM_001287518.2:c.984G>A, NM_001287518.1:c.984G>A, NM_001287520.2:c.921G>A, NM_001287520.1:c.921G>A, NM_001287519.2:c.921G>A, NM_001287519.1:c.921G>A, NM_001287522.2:c.798G>A, NM_001287522.1:c.798G>A, NM_001287524.2:c.681G>A, NM_001287524.1:c.681G>A, NM_021874.2:c.1320G>A, NM_021874.1:c.1320G>A, NM_212530.1:c.921G>A, XM_047440628.1:c.1336G>A, XP_047296584.1:p.Asp446Asn

                                      19.

                                      rs1445694084 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:3800971 (GRCh38)
                                        20:3781618 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:3800970:G:A
                                        Gene:
                                        CDC25B (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000020.11:g.3800971G>A, NC_000020.10:g.3781618G>A, NG_029040.2:g.19200G>A, NM_004358.5:c.541G>A, NM_004358.4:c.541G>A, NM_004358.3:c.541G>A, NM_021873.4:c.583G>A, NM_021873.3:c.583G>A, NM_021873.2:c.583G>A, NM_021872.4:c.460G>A, NM_021872.3:c.460G>A, NM_021872.2:c.460G>A, NR_136336.2:n.572G>A, NR_136336.1:n.751G>A, NM_001287516.2:c.391G>A, NM_001287516.1:c.391G>A, NR_136335.2:n.474G>A, NR_136335.1:n.524G>A, NM_001287517.2:c.349G>A, NM_001287517.1:c.349G>A, NM_001287518.2:c.391G>A, NM_001287518.1:c.391G>A, NM_001287520.2:c.247G>A, NM_001287520.1:c.247G>A, NM_001287519.2:c.247G>A, NM_001287519.1:c.247G>A, NM_001287522.2:c.124G>A, NM_001287522.1:c.124G>A, NM_001287524.2:c.7G>A, NM_001287524.1:c.7G>A, NM_021874.2:c.646G>A, NM_021874.1:c.646G>A, NM_212530.1:c.247G>A, XM_047440628.1:c.583G>A, NP_004349.1:p.Asp181Asn, NP_068659.1:p.Asp195Asn, NP_068658.1:p.Asp154Asn, NP_001274445.1:p.Asp131Asn, NP_001274446.1:p.Asp117Asn, NP_001274447.1:p.Asp131Asn, NP_001274449.1:p.Asp83Asn, NP_001274448.1:p.Asp83Asn, NP_001274451.1:p.Asp42Asn, NP_001274453.1:p.Asp3Asn, XP_047296584.1:p.Asp195Asn

                                        20.

                                        rs1445234666 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          20:3800475 (GRCh38)
                                          20:3781122 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:3800474:A:G
                                          Gene:
                                          CDC25B (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000111/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000020.11:g.3800475A>G, NC_000020.10:g.3781122A>G, NG_029040.2:g.18704A>G, NM_004358.5:c.394A>G, NM_004358.4:c.394A>G, NM_004358.3:c.394A>G, NM_021873.4:c.436A>G, NM_021873.3:c.436A>G, NM_021873.2:c.436A>G, NM_021872.4:c.436A>G, NM_021872.3:c.436A>G, NM_021872.2:c.436A>G, NR_136336.2:n.425A>G, NR_136336.1:n.604A>G, NM_001287516.2:c.244A>G, NM_001287516.1:c.244A>G, NR_136335.2:n.327A>G, NR_136335.1:n.377A>G, NM_001287517.2:c.202A>G, NM_001287517.1:c.202A>G, NM_001287518.2:c.244A>G, NM_001287518.1:c.244A>G, NM_001287520.2:c.100A>G, NM_001287520.1:c.100A>G, NM_001287519.2:c.100A>G, NM_001287519.1:c.100A>G, NM_001287522.2:c.100A>G, NM_001287522.1:c.100A>G, NM_001287524.2:c.-18A>G, NM_001287524.1:c.-18A>G, NG_080888.1:g.74A>G, NM_021874.2:c.394A>G, NM_021874.1:c.394A>G, NM_212530.1:c.100A>G, XM_047440628.1:c.436A>G, NP_004349.1:p.Ile132Val, NP_068659.1:p.Ile146Val, NP_068658.1:p.Ile146Val, NP_001274445.1:p.Ile82Val, NP_001274446.1:p.Ile68Val, NP_001274447.1:p.Ile82Val, NP_001274449.1:p.Ile34Val, NP_001274448.1:p.Ile34Val, NP_001274451.1:p.Ile34Val, XP_047296584.1:p.Ile146Val

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