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Items: 1 to 20 of 462

1.

rs1486231601 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    14:22998433 (GRCh38)
    14:23467642 (GRCh37)
    Canonical SPDI:
    NC_000014.9:22998432:G:A,NC_000014.9:22998432:G:C
    Gene:
    C14orf93 (Varview), AJUBA-DT (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    A=0.000005/1 (GnomAD_exomes)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000014.9:g.22998433G>A, NC_000014.9:g.22998433G>C, NC_000014.8:g.23467642G>A, NC_000014.8:g.23467642G>C, XM_011537060.4:c.591C>T, XM_011537060.4:c.591C>G, XM_011537060.3:c.591C>T, XM_011537060.3:c.591C>G, XM_011537060.2:c.591C>T, XM_011537060.2:c.591C>G, XM_011537060.1:c.591C>T, XM_011537060.1:c.591C>G, NM_021944.4:c.591C>T, NM_021944.4:c.591C>G, NM_021944.3:c.591C>T, NM_021944.3:c.591C>G, NM_021944.2:c.591C>T, NM_021944.2:c.591C>G, XM_017021575.3:c.51C>T, XM_017021575.3:c.51C>G, XM_017021575.2:c.51C>T, XM_017021575.2:c.51C>G, XM_017021575.1:c.51C>T, XM_017021575.1:c.51C>G, XM_017021570.3:c.591C>T, XM_017021570.3:c.591C>G, XM_017021570.2:c.591C>T, XM_017021570.2:c.591C>G, XM_017021570.1:c.591C>T, XM_017021570.1:c.591C>G, XM_017021572.3:c.591C>T, XM_017021572.3:c.591C>G, XM_017021572.2:c.591C>T, XM_017021572.2:c.591C>G, XM_017021572.1:c.591C>T, XM_017021572.1:c.591C>G, XM_017021574.3:c.591C>T, XM_017021574.3:c.591C>G, XM_017021574.2:c.591C>T, XM_017021574.2:c.591C>G, XM_017021574.1:c.591C>T, XM_017021574.1:c.591C>G, XM_011537062.3:c.591C>T, XM_011537062.3:c.591C>G, XM_011537062.2:c.591C>T, XM_011537062.2:c.591C>G, XM_011537062.1:c.591C>T, XM_011537062.1:c.591C>G, XM_005267972.3:c.591C>T, XM_005267972.3:c.591C>G, XM_005267972.2:c.591C>T, XM_005267972.2:c.591C>G, XM_005267972.1:c.591C>T, XM_005267972.1:c.591C>G, NM_001130706.3:c.591C>T, NM_001130706.3:c.591C>G, NM_001130706.2:c.591C>T, NM_001130706.2:c.591C>G, NM_001130706.1:c.591C>T, NM_001130706.1:c.591C>G, NM_001130708.3:c.591C>T, NM_001130708.3:c.591C>G, NM_001130708.2:c.591C>T, NM_001130708.2:c.591C>G, NM_001130708.1:c.591C>T, NM_001130708.1:c.591C>G, XM_006720232.3:c.51C>T, XM_006720232.3:c.51C>G, XM_006720232.2:c.51C>T, XM_006720232.2:c.51C>G, XM_006720232.1:c.51C>T, XM_006720232.1:c.51C>G, XM_017021573.2:c.591C>T, XM_017021573.2:c.591C>G, XM_017021573.1:c.591C>T, XM_017021573.1:c.591C>G, XM_011537059.2:c.591C>T, XM_011537059.2:c.591C>G, XM_011537059.1:c.591C>T, XM_011537059.1:c.591C>G, XM_005267971.2:c.591C>T, XM_005267971.2:c.591C>G, XM_005267971.1:c.591C>T, XM_005267971.1:c.591C>G, XM_017021576.2:c.51C>T, XM_017021576.2:c.51C>G, XM_017021576.1:c.51C>T, XM_017021576.1:c.51C>G, NM_001282968.2:c.51C>T, NM_001282968.2:c.51C>G, NM_001282968.1:c.51C>T, NM_001282968.1:c.51C>G, XM_006720231.2:c.51C>T, XM_006720231.2:c.51C>G, XM_006720231.1:c.51C>T, XM_006720231.1:c.51C>G, NM_001282970.2:c.591C>T, NM_001282970.2:c.591C>G, NM_001282970.1:c.591C>T, NM_001282970.1:c.591C>G, XM_047431661.1:c.591C>T, XM_047431661.1:c.591C>G, XM_047431667.1:c.51C>T, XM_047431667.1:c.51C>G, XM_047431668.1:c.51C>T, XM_047431668.1:c.51C>G, XM_047431664.1:c.591C>T, XM_047431664.1:c.591C>G, XM_047431660.1:c.591C>T, XM_047431660.1:c.591C>G, XM_047431662.1:c.591C>T, XM_047431662.1:c.591C>G, XM_047431663.1:c.591C>T, XM_047431663.1:c.591C>G, XM_047431666.1:c.591C>T, XM_047431666.1:c.591C>G, XM_047431665.1:c.591C>T, XM_047431665.1:c.591C>G, XM_047431669.1:c.51C>T, XM_047431669.1:c.51C>G, XM_047431671.1:c.51C>T, XM_047431671.1:c.51C>G, XM_047431672.1:c.51C>T, XM_047431672.1:c.51C>G, NM_001282969.1:c.51C>T, NM_001282969.1:c.51C>G

    2.

    rs1485776431 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:22999000 (GRCh38)
      14:23468209 (GRCh37)
      Canonical SPDI:
      NC_000014.9:22998999:G:A
      Gene:
      C14orf93 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000224/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000223/1 (Estonian)
      HGVS:
      NC_000014.9:g.22999000G>A, NC_000014.8:g.23468209G>A, XM_011537060.4:c.24C>T, XM_011537060.3:c.24C>T, XM_011537060.2:c.24C>T, XM_011537060.1:c.24C>T, NM_021944.4:c.24C>T, NM_021944.3:c.24C>T, NM_021944.2:c.24C>T, XM_017021570.3:c.24C>T, XM_017021570.2:c.24C>T, XM_017021570.1:c.24C>T, XM_017021572.3:c.24C>T, XM_017021572.2:c.24C>T, XM_017021572.1:c.24C>T, XM_017021574.3:c.24C>T, XM_017021574.2:c.24C>T, XM_017021574.1:c.24C>T, XM_011537062.3:c.24C>T, XM_011537062.2:c.24C>T, XM_011537062.1:c.24C>T, XM_005267972.3:c.24C>T, XM_005267972.2:c.24C>T, XM_005267972.1:c.24C>T, NM_001130706.3:c.24C>T, NM_001130706.2:c.24C>T, NM_001130706.1:c.24C>T, NM_001130708.3:c.24C>T, NM_001130708.2:c.24C>T, NM_001130708.1:c.24C>T, XM_017021573.2:c.24C>T, XM_017021573.1:c.24C>T, XM_011537059.2:c.24C>T, XM_011537059.1:c.24C>T, XM_005267971.2:c.24C>T, XM_005267971.1:c.24C>T, NM_001282970.2:c.24C>T, NM_001282970.1:c.24C>T, XM_047431661.1:c.24C>T, XM_047431664.1:c.24C>T, XM_047431660.1:c.24C>T, XM_047431662.1:c.24C>T, XM_047431663.1:c.24C>T, XM_047431666.1:c.24C>T, XM_047431665.1:c.24C>T

      3.

      rs1482475311 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:22998505 (GRCh38)
        14:23467714 (GRCh37)
        Canonical SPDI:
        NC_000014.9:22998504:G:A
        Gene:
        C14orf93 (Varview), AJUBA-DT (Varview)
        Functional Consequence:
        5_prime_UTR_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000014.9:g.22998505G>A, NC_000014.8:g.23467714G>A, XM_011537060.4:c.519C>T, XM_011537060.3:c.519C>T, XM_011537060.2:c.519C>T, XM_011537060.1:c.519C>T, NM_021944.4:c.519C>T, NM_021944.3:c.519C>T, NM_021944.2:c.519C>T, XM_017021575.3:c.-22C>T, XM_017021575.2:c.-22C>T, XM_017021575.1:c.-22C>T, XM_017021570.3:c.519C>T, XM_017021570.2:c.519C>T, XM_017021570.1:c.519C>T, XM_017021572.3:c.519C>T, XM_017021572.2:c.519C>T, XM_017021572.1:c.519C>T, XM_017021574.3:c.519C>T, XM_017021574.2:c.519C>T, XM_017021574.1:c.519C>T, XM_011537062.3:c.519C>T, XM_011537062.2:c.519C>T, XM_011537062.1:c.519C>T, XM_005267972.3:c.519C>T, XM_005267972.2:c.519C>T, XM_005267972.1:c.519C>T, NM_001130706.3:c.519C>T, NM_001130706.2:c.519C>T, NM_001130706.1:c.519C>T, NM_001130708.3:c.519C>T, NM_001130708.2:c.519C>T, NM_001130708.1:c.519C>T, XM_006720232.3:c.-22C>T, XM_006720232.2:c.-22C>T, XM_006720232.1:c.-22C>T, XM_017021573.2:c.519C>T, XM_017021573.1:c.519C>T, XM_011537059.2:c.519C>T, XM_011537059.1:c.519C>T, XM_005267971.2:c.519C>T, XM_005267971.1:c.519C>T, XM_017021576.2:c.-22C>T, XM_017021576.1:c.-22C>T, NM_001282968.2:c.-22C>T, NM_001282968.1:c.-22C>T, XM_006720231.2:c.-22C>T, XM_006720231.1:c.-22C>T, NM_001282970.2:c.519C>T, NM_001282970.1:c.519C>T, XM_047431661.1:c.519C>T, XM_047431667.1:c.-22C>T, XM_047431668.1:c.-22C>T, XM_047431664.1:c.519C>T, XM_047431660.1:c.519C>T, XM_047431662.1:c.519C>T, XM_047431663.1:c.519C>T, XM_047431666.1:c.519C>T, XM_047431665.1:c.519C>T, XM_047431669.1:c.-22C>T, XM_047431671.1:c.-22C>T, XM_047431672.1:c.-22C>T, NM_001282969.1:c.-22C>T

        4.

        rs1480502131 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:22998900 (GRCh38)
          14:23468109 (GRCh37)
          Canonical SPDI:
          NC_000014.9:22998899:G:A
          Gene:
          C14orf93 (Varview), AJUBA-DT (Varview)
          Functional Consequence:
          missense_variant,500B_downstream_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000014.9:g.22998900G>A, NC_000014.8:g.23468109G>A, XM_011537060.4:c.124C>T, XM_011537060.3:c.124C>T, XM_011537060.2:c.124C>T, XM_011537060.1:c.124C>T, NM_021944.4:c.124C>T, NM_021944.3:c.124C>T, NM_021944.2:c.124C>T, XM_017021570.3:c.124C>T, XM_017021570.2:c.124C>T, XM_017021570.1:c.124C>T, XM_017021572.3:c.124C>T, XM_017021572.2:c.124C>T, XM_017021572.1:c.124C>T, XM_017021574.3:c.124C>T, XM_017021574.2:c.124C>T, XM_017021574.1:c.124C>T, XM_011537062.3:c.124C>T, XM_011537062.2:c.124C>T, XM_011537062.1:c.124C>T, XM_005267972.3:c.124C>T, XM_005267972.2:c.124C>T, XM_005267972.1:c.124C>T, NM_001130706.3:c.124C>T, NM_001130706.2:c.124C>T, NM_001130706.1:c.124C>T, NM_001130708.3:c.124C>T, NM_001130708.2:c.124C>T, NM_001130708.1:c.124C>T, XM_017021573.2:c.124C>T, XM_017021573.1:c.124C>T, XM_011537059.2:c.124C>T, XM_011537059.1:c.124C>T, XM_005267971.2:c.124C>T, XM_005267971.1:c.124C>T, NM_001282970.2:c.124C>T, NM_001282970.1:c.124C>T, XM_047431661.1:c.124C>T, XM_047431664.1:c.124C>T, XM_047431660.1:c.124C>T, XM_047431662.1:c.124C>T, XM_047431663.1:c.124C>T, XM_047431666.1:c.124C>T, XM_047431665.1:c.124C>T, XP_011535362.1:p.Pro42Ser, NP_068763.2:p.Pro42Ser, XP_016877059.1:p.Pro42Ser, XP_016877061.1:p.Pro42Ser, XP_016877063.1:p.Pro42Ser, XP_011535364.1:p.Pro42Ser, XP_005268029.1:p.Pro42Ser, NP_001124178.1:p.Pro42Ser, NP_001124180.1:p.Pro42Ser, XP_016877062.1:p.Pro42Ser, XP_011535361.1:p.Pro42Ser, XP_005268028.1:p.Pro42Ser, NP_001269899.1:p.Pro42Ser, XP_047287617.1:p.Pro42Ser, XP_047287620.1:p.Pro42Ser, XP_047287616.1:p.Pro42Ser, XP_047287618.1:p.Pro42Ser, XP_047287619.1:p.Pro42Ser, XP_047287622.1:p.Pro42Ser, XP_047287621.1:p.Pro42Ser

          5.

          rs1480171621 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            14:22998469 (GRCh38)
            14:23467678 (GRCh37)
            Canonical SPDI:
            NC_000014.9:22998468:C:A,NC_000014.9:22998468:C:T
            Gene:
            C14orf93 (Varview), AJUBA-DT (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.00007/1 (TOMMO)
            HGVS:
            NC_000014.9:g.22998469C>A, NC_000014.9:g.22998469C>T, NC_000014.8:g.23467678C>A, NC_000014.8:g.23467678C>T, XM_011537060.4:c.555G>T, XM_011537060.4:c.555G>A, XM_011537060.3:c.555G>T, XM_011537060.3:c.555G>A, XM_011537060.2:c.555G>T, XM_011537060.2:c.555G>A, XM_011537060.1:c.555G>T, XM_011537060.1:c.555G>A, NM_021944.4:c.555G>T, NM_021944.4:c.555G>A, NM_021944.3:c.555G>T, NM_021944.3:c.555G>A, NM_021944.2:c.555G>T, NM_021944.2:c.555G>A, XM_017021575.3:c.15G>T, XM_017021575.3:c.15G>A, XM_017021575.2:c.15G>T, XM_017021575.2:c.15G>A, XM_017021575.1:c.15G>T, XM_017021575.1:c.15G>A, XM_017021570.3:c.555G>T, XM_017021570.3:c.555G>A, XM_017021570.2:c.555G>T, XM_017021570.2:c.555G>A, XM_017021570.1:c.555G>T, XM_017021570.1:c.555G>A, XM_017021572.3:c.555G>T, XM_017021572.3:c.555G>A, XM_017021572.2:c.555G>T, XM_017021572.2:c.555G>A, XM_017021572.1:c.555G>T, XM_017021572.1:c.555G>A, XM_017021574.3:c.555G>T, XM_017021574.3:c.555G>A, XM_017021574.2:c.555G>T, XM_017021574.2:c.555G>A, XM_017021574.1:c.555G>T, XM_017021574.1:c.555G>A, XM_011537062.3:c.555G>T, XM_011537062.3:c.555G>A, XM_011537062.2:c.555G>T, XM_011537062.2:c.555G>A, XM_011537062.1:c.555G>T, XM_011537062.1:c.555G>A, XM_005267972.3:c.555G>T, XM_005267972.3:c.555G>A, XM_005267972.2:c.555G>T, XM_005267972.2:c.555G>A, XM_005267972.1:c.555G>T, XM_005267972.1:c.555G>A, NM_001130706.3:c.555G>T, NM_001130706.3:c.555G>A, NM_001130706.2:c.555G>T, NM_001130706.2:c.555G>A, NM_001130706.1:c.555G>T, NM_001130706.1:c.555G>A, NM_001130708.3:c.555G>T, NM_001130708.3:c.555G>A, NM_001130708.2:c.555G>T, NM_001130708.2:c.555G>A, NM_001130708.1:c.555G>T, NM_001130708.1:c.555G>A, XM_006720232.3:c.15G>T, XM_006720232.3:c.15G>A, XM_006720232.2:c.15G>T, XM_006720232.2:c.15G>A, XM_006720232.1:c.15G>T, XM_006720232.1:c.15G>A, XM_017021573.2:c.555G>T, XM_017021573.2:c.555G>A, XM_017021573.1:c.555G>T, XM_017021573.1:c.555G>A, XM_011537059.2:c.555G>T, XM_011537059.2:c.555G>A, XM_011537059.1:c.555G>T, XM_011537059.1:c.555G>A, XM_005267971.2:c.555G>T, XM_005267971.2:c.555G>A, XM_005267971.1:c.555G>T, XM_005267971.1:c.555G>A, XM_017021576.2:c.15G>T, XM_017021576.2:c.15G>A, XM_017021576.1:c.15G>T, XM_017021576.1:c.15G>A, NM_001282968.2:c.15G>T, NM_001282968.2:c.15G>A, NM_001282968.1:c.15G>T, NM_001282968.1:c.15G>A, XM_006720231.2:c.15G>T, XM_006720231.2:c.15G>A, XM_006720231.1:c.15G>T, XM_006720231.1:c.15G>A, NM_001282970.2:c.555G>T, NM_001282970.2:c.555G>A, NM_001282970.1:c.555G>T, NM_001282970.1:c.555G>A, XM_047431661.1:c.555G>T, XM_047431661.1:c.555G>A, XM_047431667.1:c.15G>T, XM_047431667.1:c.15G>A, XM_047431668.1:c.15G>T, XM_047431668.1:c.15G>A, XM_047431664.1:c.555G>T, XM_047431664.1:c.555G>A, XM_047431660.1:c.555G>T, XM_047431660.1:c.555G>A, XM_047431662.1:c.555G>T, XM_047431662.1:c.555G>A, XM_047431663.1:c.555G>T, XM_047431663.1:c.555G>A, XM_047431666.1:c.555G>T, XM_047431666.1:c.555G>A, XM_047431665.1:c.555G>T, XM_047431665.1:c.555G>A, XM_047431669.1:c.15G>T, XM_047431669.1:c.15G>A, XM_047431671.1:c.15G>T, XM_047431671.1:c.15G>A, XM_047431672.1:c.15G>T, XM_047431672.1:c.15G>A, NM_001282969.1:c.15G>T, NM_001282969.1:c.15G>A

            6.

            rs1479186396 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              14:22987411 (GRCh38)
              14:23456620 (GRCh37)
              Canonical SPDI:
              NC_000014.9:22987410:C:A,NC_000014.9:22987410:C:T
              Gene:
              C14orf93 (Varview), AJUBA-DT (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000014.9:g.22987411C>A, NC_000014.9:g.22987411C>T, NC_000014.8:g.23456620C>A, NC_000014.8:g.23456620C>T, XM_011537060.4:c.1421G>T, XM_011537060.4:c.1421G>A, XM_011537060.3:c.1421G>T, XM_011537060.3:c.1421G>A, XM_011537060.2:c.1421G>T, XM_011537060.2:c.1421G>A, XM_011537060.1:c.1421G>T, XM_011537060.1:c.1421G>A, NM_021944.4:c.1421G>T, NM_021944.4:c.1421G>A, NM_021944.3:c.1421G>T, NM_021944.3:c.1421G>A, NM_021944.2:c.1421G>T, NM_021944.2:c.1421G>A, XM_017021575.3:c.881G>T, XM_017021575.3:c.881G>A, XM_017021575.2:c.881G>T, XM_017021575.2:c.881G>A, XM_017021575.1:c.881G>T, XM_017021575.1:c.881G>A, XM_017021570.3:c.1421G>T, XM_017021570.3:c.1421G>A, XM_017021570.2:c.1421G>T, XM_017021570.2:c.1421G>A, XM_017021570.1:c.1421G>T, XM_017021570.1:c.1421G>A, XM_017021572.3:c.1421G>T, XM_017021572.3:c.1421G>A, XM_017021572.2:c.1421G>T, XM_017021572.2:c.1421G>A, XM_017021572.1:c.1421G>T, XM_017021572.1:c.1421G>A, XM_017021574.3:c.1421G>T, XM_017021574.3:c.1421G>A, XM_017021574.2:c.1421G>T, XM_017021574.2:c.1421G>A, XM_017021574.1:c.1421G>T, XM_017021574.1:c.1421G>A, XM_011537062.3:c.1421G>T, XM_011537062.3:c.1421G>A, XM_011537062.2:c.1421G>T, XM_011537062.2:c.1421G>A, XM_011537062.1:c.1421G>T, XM_011537062.1:c.1421G>A, XM_005267972.3:c.1421G>T, XM_005267972.3:c.1421G>A, XM_005267972.2:c.1421G>T, XM_005267972.2:c.1421G>A, XM_005267972.1:c.1421G>T, XM_005267972.1:c.1421G>A, NM_001130706.3:c.1421G>T, NM_001130706.3:c.1421G>A, NM_001130706.2:c.1421G>T, NM_001130706.2:c.1421G>A, NM_001130706.1:c.1421G>T, NM_001130706.1:c.1421G>A, NM_001130708.3:c.1421G>T, NM_001130708.3:c.1421G>A, NM_001130708.2:c.1421G>T, NM_001130708.2:c.1421G>A, NM_001130708.1:c.1421G>T, NM_001130708.1:c.1421G>A, XM_006720232.3:c.881G>T, XM_006720232.3:c.881G>A, XM_006720232.2:c.881G>T, XM_006720232.2:c.881G>A, XM_006720232.1:c.881G>T, XM_006720232.1:c.881G>A, XM_017021573.2:c.1421G>T, XM_017021573.2:c.1421G>A, XM_017021573.1:c.1421G>T, XM_017021573.1:c.1421G>A, XM_011537059.2:c.1421G>T, XM_011537059.2:c.1421G>A, XM_011537059.1:c.1421G>T, XM_011537059.1:c.1421G>A, XM_005267971.2:c.1421G>T, XM_005267971.2:c.1421G>A, XM_005267971.1:c.1421G>T, XM_005267971.1:c.1421G>A, XM_017021576.2:c.881G>T, XM_017021576.2:c.881G>A, XM_017021576.1:c.881G>T, XM_017021576.1:c.881G>A, NM_001282968.2:c.881G>T, NM_001282968.2:c.881G>A, NM_001282968.1:c.881G>T, NM_001282968.1:c.881G>A, XM_006720231.2:c.881G>T, XM_006720231.2:c.881G>A, XM_006720231.1:c.881G>T, XM_006720231.1:c.881G>A, XM_047431661.1:c.1421G>T, XM_047431661.1:c.1421G>A, XM_047431667.1:c.881G>T, XM_047431667.1:c.881G>A, XM_047431668.1:c.881G>T, XM_047431668.1:c.881G>A, XM_047431664.1:c.1421G>T, XM_047431664.1:c.1421G>A, XM_047431660.1:c.1421G>T, XM_047431660.1:c.1421G>A, XM_047431662.1:c.1421G>T, XM_047431662.1:c.1421G>A, XM_047431663.1:c.1421G>T, XM_047431663.1:c.1421G>A, XM_047431666.1:c.1421G>T, XM_047431666.1:c.1421G>A, XM_047431665.1:c.1421G>T, XM_047431665.1:c.1421G>A, XM_047431669.1:c.881G>T, XM_047431669.1:c.881G>A, XM_047431671.1:c.881G>T, XM_047431671.1:c.881G>A, XM_047431672.1:c.881G>T, XM_047431672.1:c.881G>A, NM_001282969.1:c.881G>T, NM_001282969.1:c.881G>A, XP_011535362.1:p.Gly474Val, XP_011535362.1:p.Gly474Glu, NP_068763.2:p.Gly474Val, NP_068763.2:p.Gly474Glu, XP_016877064.1:p.Gly294Val, XP_016877064.1:p.Gly294Glu, XP_016877059.1:p.Gly474Val, XP_016877059.1:p.Gly474Glu, XP_016877061.1:p.Gly474Val, XP_016877061.1:p.Gly474Glu, XP_016877063.1:p.Gly474Val, XP_016877063.1:p.Gly474Glu, XP_011535364.1:p.Gly474Val, XP_011535364.1:p.Gly474Glu, XP_005268029.1:p.Gly474Val, XP_005268029.1:p.Gly474Glu, NP_001124178.1:p.Gly474Val, NP_001124178.1:p.Gly474Glu, NP_001124180.1:p.Gly474Val, NP_001124180.1:p.Gly474Glu, XP_006720295.1:p.Gly294Val, XP_006720295.1:p.Gly294Glu, XP_016877062.1:p.Gly474Val, XP_016877062.1:p.Gly474Glu, XP_011535361.1:p.Gly474Val, XP_011535361.1:p.Gly474Glu, XP_005268028.1:p.Gly474Val, XP_005268028.1:p.Gly474Glu, XP_016877065.1:p.Gly294Val, XP_016877065.1:p.Gly294Glu, NP_001269897.1:p.Gly294Val, NP_001269897.1:p.Gly294Glu, XP_006720294.1:p.Gly294Val, XP_006720294.1:p.Gly294Glu, XP_047287617.1:p.Gly474Val, XP_047287617.1:p.Gly474Glu, XP_047287623.1:p.Gly294Val, XP_047287623.1:p.Gly294Glu, XP_047287624.1:p.Gly294Val, XP_047287624.1:p.Gly294Glu, XP_047287620.1:p.Gly474Val, XP_047287620.1:p.Gly474Glu, XP_047287616.1:p.Gly474Val, XP_047287616.1:p.Gly474Glu, XP_047287618.1:p.Gly474Val, XP_047287618.1:p.Gly474Glu, XP_047287619.1:p.Gly474Val, XP_047287619.1:p.Gly474Glu, XP_047287622.1:p.Gly474Val, XP_047287622.1:p.Gly474Glu, XP_047287621.1:p.Gly474Val, XP_047287621.1:p.Gly474Glu, XP_047287625.1:p.Gly294Val, XP_047287625.1:p.Gly294Glu, XP_047287627.1:p.Gly294Val, XP_047287627.1:p.Gly294Glu, XP_047287628.1:p.Gly294Val, XP_047287628.1:p.Gly294Glu, NP_001269898.1:p.Gly294Val, NP_001269898.1:p.Gly294Glu

              7.

              rs1477005439 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:22998699 (GRCh38)
                14:23467908 (GRCh37)
                Canonical SPDI:
                NC_000014.9:22998698:C:T
                Gene:
                C14orf93 (Varview), AJUBA-DT (Varview)
                Functional Consequence:
                500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.22998699C>T, NC_000014.8:g.23467908C>T, XM_011537060.4:c.325G>A, XM_011537060.3:c.325G>A, XM_011537060.2:c.325G>A, XM_011537060.1:c.325G>A, NM_021944.4:c.325G>A, NM_021944.3:c.325G>A, NM_021944.2:c.325G>A, XM_017021575.3:c.-216G>A, XM_017021575.2:c.-216G>A, XM_017021575.1:c.-216G>A, XM_017021570.3:c.325G>A, XM_017021570.2:c.325G>A, XM_017021570.1:c.325G>A, XM_017021572.3:c.325G>A, XM_017021572.2:c.325G>A, XM_017021572.1:c.325G>A, XM_017021574.3:c.325G>A, XM_017021574.2:c.325G>A, XM_017021574.1:c.325G>A, XM_011537062.3:c.325G>A, XM_011537062.2:c.325G>A, XM_011537062.1:c.325G>A, XM_005267972.3:c.325G>A, XM_005267972.2:c.325G>A, XM_005267972.1:c.325G>A, NM_001130706.3:c.325G>A, NM_001130706.2:c.325G>A, NM_001130706.1:c.325G>A, NM_001130708.3:c.325G>A, NM_001130708.2:c.325G>A, NM_001130708.1:c.325G>A, XM_006720232.3:c.-216G>A, XM_006720232.2:c.-216G>A, XM_006720232.1:c.-216G>A, XM_017021573.2:c.325G>A, XM_017021573.1:c.325G>A, XM_011537059.2:c.325G>A, XM_011537059.1:c.325G>A, XM_005267971.2:c.325G>A, XM_005267971.1:c.325G>A, XM_017021576.2:c.-216G>A, XM_017021576.1:c.-216G>A, NM_001282968.2:c.-216G>A, NM_001282968.1:c.-216G>A, XM_006720231.2:c.-216G>A, XM_006720231.1:c.-216G>A, NM_001282970.2:c.325G>A, NM_001282970.1:c.325G>A, XM_047431661.1:c.325G>A, XM_047431667.1:c.-216G>A, XM_047431668.1:c.-216G>A, XM_047431664.1:c.325G>A, XM_047431660.1:c.325G>A, XM_047431662.1:c.325G>A, XM_047431663.1:c.325G>A, XM_047431666.1:c.325G>A, XM_047431665.1:c.325G>A, XM_047431669.1:c.-216G>A, XM_047431671.1:c.-216G>A, XM_047431672.1:c.-216G>A, NM_001282969.1:c.-216G>A, XP_011535362.1:p.Asp109Asn, NP_068763.2:p.Asp109Asn, XP_016877059.1:p.Asp109Asn, XP_016877061.1:p.Asp109Asn, XP_016877063.1:p.Asp109Asn, XP_011535364.1:p.Asp109Asn, XP_005268029.1:p.Asp109Asn, NP_001124178.1:p.Asp109Asn, NP_001124180.1:p.Asp109Asn, XP_016877062.1:p.Asp109Asn, XP_011535361.1:p.Asp109Asn, XP_005268028.1:p.Asp109Asn, NP_001269899.1:p.Asp109Asn, XP_047287617.1:p.Asp109Asn, XP_047287620.1:p.Asp109Asn, XP_047287616.1:p.Asp109Asn, XP_047287618.1:p.Asp109Asn, XP_047287619.1:p.Asp109Asn, XP_047287622.1:p.Asp109Asn, XP_047287621.1:p.Asp109Asn

                8.

                rs1471640737 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:22998965 (GRCh38)
                  14:23468174 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:22998964:C:T
                  Gene:
                  C14orf93 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.22998965C>T, NC_000014.8:g.23468174C>T, XM_011537060.4:c.59G>A, XM_011537060.3:c.59G>A, XM_011537060.2:c.59G>A, XM_011537060.1:c.59G>A, NM_021944.4:c.59G>A, NM_021944.3:c.59G>A, NM_021944.2:c.59G>A, XM_017021570.3:c.59G>A, XM_017021570.2:c.59G>A, XM_017021570.1:c.59G>A, XM_017021572.3:c.59G>A, XM_017021572.2:c.59G>A, XM_017021572.1:c.59G>A, XM_017021574.3:c.59G>A, XM_017021574.2:c.59G>A, XM_017021574.1:c.59G>A, XM_011537062.3:c.59G>A, XM_011537062.2:c.59G>A, XM_011537062.1:c.59G>A, XM_005267972.3:c.59G>A, XM_005267972.2:c.59G>A, XM_005267972.1:c.59G>A, NM_001130706.3:c.59G>A, NM_001130706.2:c.59G>A, NM_001130706.1:c.59G>A, NM_001130708.3:c.59G>A, NM_001130708.2:c.59G>A, NM_001130708.1:c.59G>A, XM_017021573.2:c.59G>A, XM_017021573.1:c.59G>A, XM_011537059.2:c.59G>A, XM_011537059.1:c.59G>A, XM_005267971.2:c.59G>A, XM_005267971.1:c.59G>A, NM_001282970.2:c.59G>A, NM_001282970.1:c.59G>A, XM_047431661.1:c.59G>A, XM_047431664.1:c.59G>A, XM_047431660.1:c.59G>A, XM_047431662.1:c.59G>A, XM_047431663.1:c.59G>A, XM_047431666.1:c.59G>A, XM_047431665.1:c.59G>A, XP_011535362.1:p.Cys20Tyr, NP_068763.2:p.Cys20Tyr, XP_016877059.1:p.Cys20Tyr, XP_016877061.1:p.Cys20Tyr, XP_016877063.1:p.Cys20Tyr, XP_011535364.1:p.Cys20Tyr, XP_005268029.1:p.Cys20Tyr, NP_001124178.1:p.Cys20Tyr, NP_001124180.1:p.Cys20Tyr, XP_016877062.1:p.Cys20Tyr, XP_011535361.1:p.Cys20Tyr, XP_005268028.1:p.Cys20Tyr, NP_001269899.1:p.Cys20Tyr, XP_047287617.1:p.Cys20Tyr, XP_047287620.1:p.Cys20Tyr, XP_047287616.1:p.Cys20Tyr, XP_047287618.1:p.Cys20Tyr, XP_047287619.1:p.Cys20Tyr, XP_047287622.1:p.Cys20Tyr, XP_047287621.1:p.Cys20Tyr

                  9.

                  rs1471279623 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    14:22996154 (GRCh38)
                    14:23465363 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:22996153:T:G
                    Gene:
                    C14orf93 (Varview), AJUBA-DT (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000111/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.22996154T>G, NC_000014.8:g.23465363T>G, XM_011537060.4:c.712A>C, XM_011537060.3:c.712A>C, XM_011537060.2:c.712A>C, XM_011537060.1:c.712A>C, NM_021944.4:c.712A>C, NM_021944.3:c.712A>C, NM_021944.2:c.712A>C, XM_017021575.3:c.172A>C, XM_017021575.2:c.172A>C, XM_017021575.1:c.172A>C, XM_017021570.3:c.712A>C, XM_017021570.2:c.712A>C, XM_017021570.1:c.712A>C, XM_017021572.3:c.712A>C, XM_017021572.2:c.712A>C, XM_017021572.1:c.712A>C, XM_017021574.3:c.712A>C, XM_017021574.2:c.712A>C, XM_017021574.1:c.712A>C, XM_011537062.3:c.712A>C, XM_011537062.2:c.712A>C, XM_011537062.1:c.712A>C, XM_005267972.3:c.712A>C, XM_005267972.2:c.712A>C, XM_005267972.1:c.712A>C, NM_001130706.3:c.712A>C, NM_001130706.2:c.712A>C, NM_001130706.1:c.712A>C, NM_001130708.3:c.712A>C, NM_001130708.2:c.712A>C, NM_001130708.1:c.712A>C, XM_006720232.3:c.172A>C, XM_006720232.2:c.172A>C, XM_006720232.1:c.172A>C, XM_017021573.2:c.712A>C, XM_017021573.1:c.712A>C, XM_011537059.2:c.712A>C, XM_011537059.1:c.712A>C, XM_005267971.2:c.712A>C, XM_005267971.1:c.712A>C, XM_017021576.2:c.172A>C, XM_017021576.1:c.172A>C, NM_001282968.2:c.172A>C, NM_001282968.1:c.172A>C, XM_006720231.2:c.172A>C, XM_006720231.1:c.172A>C, NM_001282970.2:c.712A>C, NM_001282970.1:c.712A>C, XM_047431661.1:c.712A>C, XM_047431667.1:c.172A>C, XM_047431668.1:c.172A>C, XM_047431664.1:c.712A>C, XM_047431660.1:c.712A>C, XM_047431662.1:c.712A>C, XM_047431663.1:c.712A>C, XM_047431666.1:c.712A>C, XM_047431665.1:c.712A>C, XM_047431669.1:c.172A>C, XM_047431671.1:c.172A>C, XM_047431672.1:c.172A>C, NM_001282969.1:c.172A>C, XP_011535362.1:p.Thr238Pro, NP_068763.2:p.Thr238Pro, XP_016877064.1:p.Thr58Pro, XP_016877059.1:p.Thr238Pro, XP_016877061.1:p.Thr238Pro, XP_016877063.1:p.Thr238Pro, XP_011535364.1:p.Thr238Pro, XP_005268029.1:p.Thr238Pro, NP_001124178.1:p.Thr238Pro, NP_001124180.1:p.Thr238Pro, XP_006720295.1:p.Thr58Pro, XP_016877062.1:p.Thr238Pro, XP_011535361.1:p.Thr238Pro, XP_005268028.1:p.Thr238Pro, XP_016877065.1:p.Thr58Pro, NP_001269897.1:p.Thr58Pro, XP_006720294.1:p.Thr58Pro, NP_001269899.1:p.Thr238Pro, XP_047287617.1:p.Thr238Pro, XP_047287623.1:p.Thr58Pro, XP_047287624.1:p.Thr58Pro, XP_047287620.1:p.Thr238Pro, XP_047287616.1:p.Thr238Pro, XP_047287618.1:p.Thr238Pro, XP_047287619.1:p.Thr238Pro, XP_047287622.1:p.Thr238Pro, XP_047287621.1:p.Thr238Pro, XP_047287625.1:p.Thr58Pro, XP_047287627.1:p.Thr58Pro, XP_047287628.1:p.Thr58Pro, NP_001269898.1:p.Thr58Pro

                    10.

                    rs1469129856 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      14:22998767 (GRCh38)
                      14:23467976 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:22998766:TT:T
                      Gene:
                      C14orf93 (Varview), AJUBA-DT (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TT=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000014.9:g.22998768del, NC_000014.8:g.23467977del, XM_011537060.4:c.257del, XM_011537060.3:c.257del, XM_011537060.2:c.257del, XM_011537060.1:c.257del, NM_021944.4:c.257del, NM_021944.3:c.257del, NM_021944.2:c.257del, XM_017021570.3:c.257del, XM_017021570.2:c.257del, XM_017021570.1:c.257del, XM_017021572.3:c.257del, XM_017021572.2:c.257del, XM_017021572.1:c.257del, XM_017021574.3:c.257del, XM_017021574.2:c.257del, XM_017021574.1:c.257del, XM_011537062.3:c.257del, XM_011537062.2:c.257del, XM_011537062.1:c.257del, XM_005267972.3:c.257del, XM_005267972.2:c.257del, XM_005267972.1:c.257del, NM_001130706.3:c.257del, NM_001130706.2:c.257del, NM_001130706.1:c.257del, NM_001130708.3:c.257del, NM_001130708.2:c.257del, NM_001130708.1:c.257del, XM_017021573.2:c.257del, XM_017021573.1:c.257del, XM_011537059.2:c.257del, XM_011537059.1:c.257del, XM_005267971.2:c.257del, XM_005267971.1:c.257del, NM_001282970.2:c.257del, NM_001282970.1:c.257del, XM_047431661.1:c.257del, XM_047431664.1:c.257del, XM_047431660.1:c.257del, XM_047431662.1:c.257del, XM_047431663.1:c.257del, XM_047431666.1:c.257del, XM_047431665.1:c.257del, XP_011535362.1:p.Asn86fs, NP_068763.2:p.Asn86fs, XP_016877059.1:p.Asn86fs, XP_016877061.1:p.Asn86fs, XP_016877063.1:p.Asn86fs, XP_011535364.1:p.Asn86fs, XP_005268029.1:p.Asn86fs, NP_001124178.1:p.Asn86fs, NP_001124180.1:p.Asn86fs, XP_016877062.1:p.Asn86fs, XP_011535361.1:p.Asn86fs, XP_005268028.1:p.Asn86fs, NP_001269899.1:p.Asn86fs, XP_047287617.1:p.Asn86fs, XP_047287620.1:p.Asn86fs, XP_047287616.1:p.Asn86fs, XP_047287618.1:p.Asn86fs, XP_047287619.1:p.Asn86fs, XP_047287622.1:p.Asn86fs, XP_047287621.1:p.Asn86fs

                      11.

                      rs1468068441 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:22989771 (GRCh38)
                        14:23458980 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:22989770:G:A
                        Gene:
                        C14orf93 (Varview), AJUBA-DT (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000014.9:g.22989771G>A, NC_000014.8:g.23458980G>A, XM_011537060.4:c.1055C>T, XM_011537060.3:c.1055C>T, XM_011537060.2:c.1055C>T, XM_011537060.1:c.1055C>T, NM_021944.4:c.1055C>T, NM_021944.3:c.1055C>T, NM_021944.2:c.1055C>T, XM_017021575.3:c.515C>T, XM_017021575.2:c.515C>T, XM_017021575.1:c.515C>T, XM_017021570.3:c.1055C>T, XM_017021570.2:c.1055C>T, XM_017021570.1:c.1055C>T, XM_017021572.3:c.1055C>T, XM_017021572.2:c.1055C>T, XM_017021572.1:c.1055C>T, XM_017021574.3:c.1055C>T, XM_017021574.2:c.1055C>T, XM_017021574.1:c.1055C>T, XM_011537062.3:c.1055C>T, XM_011537062.2:c.1055C>T, XM_011537062.1:c.1055C>T, XM_005267972.3:c.1055C>T, XM_005267972.2:c.1055C>T, XM_005267972.1:c.1055C>T, NM_001130706.3:c.1055C>T, NM_001130706.2:c.1055C>T, NM_001130706.1:c.1055C>T, NM_001130708.3:c.1055C>T, NM_001130708.2:c.1055C>T, NM_001130708.1:c.1055C>T, XM_006720232.3:c.515C>T, XM_006720232.2:c.515C>T, XM_006720232.1:c.515C>T, XM_017021573.2:c.1055C>T, XM_017021573.1:c.1055C>T, XM_011537059.2:c.1055C>T, XM_011537059.1:c.1055C>T, XM_005267971.2:c.1055C>T, XM_005267971.1:c.1055C>T, XM_017021576.2:c.515C>T, XM_017021576.1:c.515C>T, NM_001282968.2:c.515C>T, NM_001282968.1:c.515C>T, XM_006720231.2:c.515C>T, XM_006720231.1:c.515C>T, NM_001282970.2:c.1055C>T, NM_001282970.1:c.1055C>T, XM_047431661.1:c.1055C>T, XM_047431667.1:c.515C>T, XM_047431668.1:c.515C>T, XM_047431664.1:c.1055C>T, XM_047431660.1:c.1055C>T, XM_047431662.1:c.1055C>T, XM_047431663.1:c.1055C>T, XM_047431666.1:c.1055C>T, XM_047431665.1:c.1055C>T, XM_047431669.1:c.515C>T, XM_047431671.1:c.515C>T, XM_047431672.1:c.515C>T, XR_007064074.1:n.520G>A, NM_001282969.1:c.515C>T, XP_011535362.1:p.Pro352Leu, NP_068763.2:p.Pro352Leu, XP_016877064.1:p.Pro172Leu, XP_016877059.1:p.Pro352Leu, XP_016877061.1:p.Pro352Leu, XP_016877063.1:p.Pro352Leu, XP_011535364.1:p.Pro352Leu, XP_005268029.1:p.Pro352Leu, NP_001124178.1:p.Pro352Leu, NP_001124180.1:p.Pro352Leu, XP_006720295.1:p.Pro172Leu, XP_016877062.1:p.Pro352Leu, XP_011535361.1:p.Pro352Leu, XP_005268028.1:p.Pro352Leu, XP_016877065.1:p.Pro172Leu, NP_001269897.1:p.Pro172Leu, XP_006720294.1:p.Pro172Leu, NP_001269899.1:p.Pro352Leu, XP_047287617.1:p.Pro352Leu, XP_047287623.1:p.Pro172Leu, XP_047287624.1:p.Pro172Leu, XP_047287620.1:p.Pro352Leu, XP_047287616.1:p.Pro352Leu, XP_047287618.1:p.Pro352Leu, XP_047287619.1:p.Pro352Leu, XP_047287622.1:p.Pro352Leu, XP_047287621.1:p.Pro352Leu, XP_047287625.1:p.Pro172Leu, XP_047287627.1:p.Pro172Leu, XP_047287628.1:p.Pro172Leu, NP_001269898.1:p.Pro172Leu

                        12.

                        rs1465362084 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:22987588 (GRCh38)
                          14:23456797 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:22987587:T:C
                          Gene:
                          C14orf93 (Varview), AJUBA-DT (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000014.9:g.22987588T>C, NC_000014.8:g.23456797T>C, XM_011537060.4:c.1244A>G, XM_011537060.3:c.1244A>G, XM_011537060.2:c.1244A>G, XM_011537060.1:c.1244A>G, NM_021944.4:c.1244A>G, NM_021944.3:c.1244A>G, NM_021944.2:c.1244A>G, XM_017021575.3:c.704A>G, XM_017021575.2:c.704A>G, XM_017021575.1:c.704A>G, XM_017021570.3:c.1244A>G, XM_017021570.2:c.1244A>G, XM_017021570.1:c.1244A>G, XM_017021572.3:c.1244A>G, XM_017021572.2:c.1244A>G, XM_017021572.1:c.1244A>G, XM_017021574.3:c.1244A>G, XM_017021574.2:c.1244A>G, XM_017021574.1:c.1244A>G, XM_011537062.3:c.1244A>G, XM_011537062.2:c.1244A>G, XM_011537062.1:c.1244A>G, XM_005267972.3:c.1244A>G, XM_005267972.2:c.1244A>G, XM_005267972.1:c.1244A>G, NM_001130706.3:c.1244A>G, NM_001130706.2:c.1244A>G, NM_001130706.1:c.1244A>G, NM_001130708.3:c.1244A>G, NM_001130708.2:c.1244A>G, NM_001130708.1:c.1244A>G, XM_006720232.3:c.704A>G, XM_006720232.2:c.704A>G, XM_006720232.1:c.704A>G, XM_017021573.2:c.1244A>G, XM_017021573.1:c.1244A>G, XM_011537059.2:c.1244A>G, XM_011537059.1:c.1244A>G, XM_005267971.2:c.1244A>G, XM_005267971.1:c.1244A>G, XM_017021576.2:c.704A>G, XM_017021576.1:c.704A>G, NM_001282968.2:c.704A>G, NM_001282968.1:c.704A>G, XM_006720231.2:c.704A>G, XM_006720231.1:c.704A>G, NM_001282970.2:c.1244A>G, NM_001282970.1:c.1244A>G, XM_047431661.1:c.1244A>G, XM_047431667.1:c.704A>G, XM_047431668.1:c.704A>G, XM_047431664.1:c.1244A>G, XM_047431660.1:c.1244A>G, XM_047431662.1:c.1244A>G, XM_047431663.1:c.1244A>G, XM_047431666.1:c.1244A>G, XM_047431665.1:c.1244A>G, XM_047431669.1:c.704A>G, XM_047431671.1:c.704A>G, XM_047431672.1:c.704A>G, NM_001282969.1:c.704A>G, XP_011535362.1:p.Asp415Gly, NP_068763.2:p.Asp415Gly, XP_016877064.1:p.Asp235Gly, XP_016877059.1:p.Asp415Gly, XP_016877061.1:p.Asp415Gly, XP_016877063.1:p.Asp415Gly, XP_011535364.1:p.Asp415Gly, XP_005268029.1:p.Asp415Gly, NP_001124178.1:p.Asp415Gly, NP_001124180.1:p.Asp415Gly, XP_006720295.1:p.Asp235Gly, XP_016877062.1:p.Asp415Gly, XP_011535361.1:p.Asp415Gly, XP_005268028.1:p.Asp415Gly, XP_016877065.1:p.Asp235Gly, NP_001269897.1:p.Asp235Gly, XP_006720294.1:p.Asp235Gly, NP_001269899.1:p.Asp415Gly, XP_047287617.1:p.Asp415Gly, XP_047287623.1:p.Asp235Gly, XP_047287624.1:p.Asp235Gly, XP_047287620.1:p.Asp415Gly, XP_047287616.1:p.Asp415Gly, XP_047287618.1:p.Asp415Gly, XP_047287619.1:p.Asp415Gly, XP_047287622.1:p.Asp415Gly, XP_047287621.1:p.Asp415Gly, XP_047287625.1:p.Asp235Gly, XP_047287627.1:p.Asp235Gly, XP_047287628.1:p.Asp235Gly, NP_001269898.1:p.Asp235Gly

                          13.

                          rs1462918039 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:22996228 (GRCh38)
                            14:23465437 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:22996227:C:T
                            Gene:
                            C14orf93 (Varview), AJUBA-DT (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_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_000014.9:g.22996228C>T, NC_000014.8:g.23465437C>T, XM_011537060.4:c.638G>A, XM_011537060.3:c.638G>A, XM_011537060.2:c.638G>A, XM_011537060.1:c.638G>A, NM_021944.4:c.638G>A, NM_021944.3:c.638G>A, NM_021944.2:c.638G>A, XM_017021575.3:c.98G>A, XM_017021575.2:c.98G>A, XM_017021575.1:c.98G>A, XM_017021570.3:c.638G>A, XM_017021570.2:c.638G>A, XM_017021570.1:c.638G>A, XM_017021572.3:c.638G>A, XM_017021572.2:c.638G>A, XM_017021572.1:c.638G>A, XM_017021574.3:c.638G>A, XM_017021574.2:c.638G>A, XM_017021574.1:c.638G>A, XM_011537062.3:c.638G>A, XM_011537062.2:c.638G>A, XM_011537062.1:c.638G>A, XM_005267972.3:c.638G>A, XM_005267972.2:c.638G>A, XM_005267972.1:c.638G>A, NM_001130706.3:c.638G>A, NM_001130706.2:c.638G>A, NM_001130706.1:c.638G>A, NM_001130708.3:c.638G>A, NM_001130708.2:c.638G>A, NM_001130708.1:c.638G>A, XM_006720232.3:c.98G>A, XM_006720232.2:c.98G>A, XM_006720232.1:c.98G>A, XM_017021573.2:c.638G>A, XM_017021573.1:c.638G>A, XM_011537059.2:c.638G>A, XM_011537059.1:c.638G>A, XM_005267971.2:c.638G>A, XM_005267971.1:c.638G>A, XM_017021576.2:c.98G>A, XM_017021576.1:c.98G>A, NM_001282968.2:c.98G>A, NM_001282968.1:c.98G>A, XM_006720231.2:c.98G>A, XM_006720231.1:c.98G>A, NM_001282970.2:c.638G>A, NM_001282970.1:c.638G>A, XM_047431661.1:c.638G>A, XM_047431667.1:c.98G>A, XM_047431668.1:c.98G>A, XM_047431664.1:c.638G>A, XM_047431660.1:c.638G>A, XM_047431662.1:c.638G>A, XM_047431663.1:c.638G>A, XM_047431666.1:c.638G>A, XM_047431665.1:c.638G>A, XM_047431669.1:c.98G>A, XM_047431671.1:c.98G>A, XM_047431672.1:c.98G>A, NM_001282969.1:c.98G>A, XP_011535362.1:p.Arg213Gln, NP_068763.2:p.Arg213Gln, XP_016877064.1:p.Arg33Gln, XP_016877059.1:p.Arg213Gln, XP_016877061.1:p.Arg213Gln, XP_016877063.1:p.Arg213Gln, XP_011535364.1:p.Arg213Gln, XP_005268029.1:p.Arg213Gln, NP_001124178.1:p.Arg213Gln, NP_001124180.1:p.Arg213Gln, XP_006720295.1:p.Arg33Gln, XP_016877062.1:p.Arg213Gln, XP_011535361.1:p.Arg213Gln, XP_005268028.1:p.Arg213Gln, XP_016877065.1:p.Arg33Gln, NP_001269897.1:p.Arg33Gln, XP_006720294.1:p.Arg33Gln, NP_001269899.1:p.Arg213Gln, XP_047287617.1:p.Arg213Gln, XP_047287623.1:p.Arg33Gln, XP_047287624.1:p.Arg33Gln, XP_047287620.1:p.Arg213Gln, XP_047287616.1:p.Arg213Gln, XP_047287618.1:p.Arg213Gln, XP_047287619.1:p.Arg213Gln, XP_047287622.1:p.Arg213Gln, XP_047287621.1:p.Arg213Gln, XP_047287625.1:p.Arg33Gln, XP_047287627.1:p.Arg33Gln, XP_047287628.1:p.Arg33Gln, NP_001269898.1:p.Arg33Gln

                            14.

                            rs1462519198 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              14:22998594 (GRCh38)
                              14:23467803 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:22998593:C:A
                              Gene:
                              C14orf93 (Varview), AJUBA-DT (Varview)
                              Functional Consequence:
                              500B_downstream_variant,coding_sequence_variant,stop_gained,downstream_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000014.9:g.22998594C>A, NC_000014.8:g.23467803C>A, XM_011537060.4:c.430G>T, XM_011537060.3:c.430G>T, XM_011537060.2:c.430G>T, XM_011537060.1:c.430G>T, NM_021944.4:c.430G>T, NM_021944.3:c.430G>T, NM_021944.2:c.430G>T, XM_017021575.3:c.-111G>T, XM_017021575.2:c.-111G>T, XM_017021575.1:c.-111G>T, XM_017021570.3:c.430G>T, XM_017021570.2:c.430G>T, XM_017021570.1:c.430G>T, XM_017021572.3:c.430G>T, XM_017021572.2:c.430G>T, XM_017021572.1:c.430G>T, XM_017021574.3:c.430G>T, XM_017021574.2:c.430G>T, XM_017021574.1:c.430G>T, XM_011537062.3:c.430G>T, XM_011537062.2:c.430G>T, XM_011537062.1:c.430G>T, XM_005267972.3:c.430G>T, XM_005267972.2:c.430G>T, XM_005267972.1:c.430G>T, NM_001130706.3:c.430G>T, NM_001130706.2:c.430G>T, NM_001130706.1:c.430G>T, NM_001130708.3:c.430G>T, NM_001130708.2:c.430G>T, NM_001130708.1:c.430G>T, XM_006720232.3:c.-111G>T, XM_006720232.2:c.-111G>T, XM_006720232.1:c.-111G>T, XM_017021573.2:c.430G>T, XM_017021573.1:c.430G>T, XM_011537059.2:c.430G>T, XM_011537059.1:c.430G>T, XM_005267971.2:c.430G>T, XM_005267971.1:c.430G>T, XM_017021576.2:c.-111G>T, XM_017021576.1:c.-111G>T, NM_001282968.2:c.-111G>T, NM_001282968.1:c.-111G>T, XM_006720231.2:c.-111G>T, XM_006720231.1:c.-111G>T, NM_001282970.2:c.430G>T, NM_001282970.1:c.430G>T, XM_047431661.1:c.430G>T, XM_047431667.1:c.-111G>T, XM_047431668.1:c.-111G>T, XM_047431664.1:c.430G>T, XM_047431660.1:c.430G>T, XM_047431662.1:c.430G>T, XM_047431663.1:c.430G>T, XM_047431666.1:c.430G>T, XM_047431665.1:c.430G>T, XM_047431669.1:c.-111G>T, XM_047431671.1:c.-111G>T, XM_047431672.1:c.-111G>T, NM_001282969.1:c.-111G>T, XP_011535362.1:p.Glu144Ter, NP_068763.2:p.Glu144Ter, XP_016877059.1:p.Glu144Ter, XP_016877061.1:p.Glu144Ter, XP_016877063.1:p.Glu144Ter, XP_011535364.1:p.Glu144Ter, XP_005268029.1:p.Glu144Ter, NP_001124178.1:p.Glu144Ter, NP_001124180.1:p.Glu144Ter, XP_016877062.1:p.Glu144Ter, XP_011535361.1:p.Glu144Ter, XP_005268028.1:p.Glu144Ter, NP_001269899.1:p.Glu144Ter, XP_047287617.1:p.Glu144Ter, XP_047287620.1:p.Glu144Ter, XP_047287616.1:p.Glu144Ter, XP_047287618.1:p.Glu144Ter, XP_047287619.1:p.Glu144Ter, XP_047287622.1:p.Glu144Ter, XP_047287621.1:p.Glu144Ter

                              15.

                              rs1461592606 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:22998868 (GRCh38)
                                14:23468077 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:22998867:G:A
                                Gene:
                                C14orf93 (Varview), AJUBA-DT (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.22998868G>A, NC_000014.8:g.23468077G>A, XM_011537060.4:c.156C>T, XM_011537060.3:c.156C>T, XM_011537060.2:c.156C>T, XM_011537060.1:c.156C>T, NM_021944.4:c.156C>T, NM_021944.3:c.156C>T, NM_021944.2:c.156C>T, XM_017021570.3:c.156C>T, XM_017021570.2:c.156C>T, XM_017021570.1:c.156C>T, XM_017021572.3:c.156C>T, XM_017021572.2:c.156C>T, XM_017021572.1:c.156C>T, XM_017021574.3:c.156C>T, XM_017021574.2:c.156C>T, XM_017021574.1:c.156C>T, XM_011537062.3:c.156C>T, XM_011537062.2:c.156C>T, XM_011537062.1:c.156C>T, XM_005267972.3:c.156C>T, XM_005267972.2:c.156C>T, XM_005267972.1:c.156C>T, NM_001130706.3:c.156C>T, NM_001130706.2:c.156C>T, NM_001130706.1:c.156C>T, NM_001130708.3:c.156C>T, NM_001130708.2:c.156C>T, NM_001130708.1:c.156C>T, XM_017021573.2:c.156C>T, XM_017021573.1:c.156C>T, XM_011537059.2:c.156C>T, XM_011537059.1:c.156C>T, XM_005267971.2:c.156C>T, XM_005267971.1:c.156C>T, NM_001282970.2:c.156C>T, NM_001282970.1:c.156C>T, XM_047431661.1:c.156C>T, XM_047431664.1:c.156C>T, XM_047431660.1:c.156C>T, XM_047431662.1:c.156C>T, XM_047431663.1:c.156C>T, XM_047431666.1:c.156C>T, XM_047431665.1:c.156C>T

                                16.

                                rs1459699154 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  14:22998648 (GRCh38)
                                  14:23467857 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:22998647:G:A,NC_000014.9:22998647:G:T
                                  Gene:
                                  C14orf93 (Varview), AJUBA-DT (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000014.9:g.22998648G>A, NC_000014.9:g.22998648G>T, NC_000014.8:g.23467857G>A, NC_000014.8:g.23467857G>T, XM_011537060.4:c.376C>T, XM_011537060.4:c.376C>A, XM_011537060.3:c.376C>T, XM_011537060.3:c.376C>A, XM_011537060.2:c.376C>T, XM_011537060.2:c.376C>A, XM_011537060.1:c.376C>T, XM_011537060.1:c.376C>A, NM_021944.4:c.376C>T, NM_021944.4:c.376C>A, NM_021944.3:c.376C>T, NM_021944.3:c.376C>A, NM_021944.2:c.376C>T, NM_021944.2:c.376C>A, XM_017021575.3:c.-165C>T, XM_017021575.3:c.-165C>A, XM_017021575.2:c.-165C>T, XM_017021575.2:c.-165C>A, XM_017021575.1:c.-165C>T, XM_017021575.1:c.-165C>A, XM_017021570.3:c.376C>T, XM_017021570.3:c.376C>A, XM_017021570.2:c.376C>T, XM_017021570.2:c.376C>A, XM_017021570.1:c.376C>T, XM_017021570.1:c.376C>A, XM_017021572.3:c.376C>T, XM_017021572.3:c.376C>A, XM_017021572.2:c.376C>T, XM_017021572.2:c.376C>A, XM_017021572.1:c.376C>T, XM_017021572.1:c.376C>A, XM_017021574.3:c.376C>T, XM_017021574.3:c.376C>A, XM_017021574.2:c.376C>T, XM_017021574.2:c.376C>A, XM_017021574.1:c.376C>T, XM_017021574.1:c.376C>A, XM_011537062.3:c.376C>T, XM_011537062.3:c.376C>A, XM_011537062.2:c.376C>T, XM_011537062.2:c.376C>A, XM_011537062.1:c.376C>T, XM_011537062.1:c.376C>A, XM_005267972.3:c.376C>T, XM_005267972.3:c.376C>A, XM_005267972.2:c.376C>T, XM_005267972.2:c.376C>A, XM_005267972.1:c.376C>T, XM_005267972.1:c.376C>A, NM_001130706.3:c.376C>T, NM_001130706.3:c.376C>A, NM_001130706.2:c.376C>T, NM_001130706.2:c.376C>A, NM_001130706.1:c.376C>T, NM_001130706.1:c.376C>A, NM_001130708.3:c.376C>T, NM_001130708.3:c.376C>A, NM_001130708.2:c.376C>T, NM_001130708.2:c.376C>A, NM_001130708.1:c.376C>T, NM_001130708.1:c.376C>A, XM_006720232.3:c.-165C>T, XM_006720232.3:c.-165C>A, XM_006720232.2:c.-165C>T, XM_006720232.2:c.-165C>A, XM_006720232.1:c.-165C>T, XM_006720232.1:c.-165C>A, XM_017021573.2:c.376C>T, XM_017021573.2:c.376C>A, XM_017021573.1:c.376C>T, XM_017021573.1:c.376C>A, XM_011537059.2:c.376C>T, XM_011537059.2:c.376C>A, XM_011537059.1:c.376C>T, XM_011537059.1:c.376C>A, XM_005267971.2:c.376C>T, XM_005267971.2:c.376C>A, XM_005267971.1:c.376C>T, XM_005267971.1:c.376C>A, XM_017021576.2:c.-165C>T, XM_017021576.2:c.-165C>A, XM_017021576.1:c.-165C>T, XM_017021576.1:c.-165C>A, NM_001282968.2:c.-165C>T, NM_001282968.2:c.-165C>A, NM_001282968.1:c.-165C>T, NM_001282968.1:c.-165C>A, XM_006720231.2:c.-165C>T, XM_006720231.2:c.-165C>A, XM_006720231.1:c.-165C>T, XM_006720231.1:c.-165C>A, NM_001282970.2:c.376C>T, NM_001282970.2:c.376C>A, NM_001282970.1:c.376C>T, NM_001282970.1:c.376C>A, XM_047431661.1:c.376C>T, XM_047431661.1:c.376C>A, XM_047431667.1:c.-165C>T, XM_047431667.1:c.-165C>A, XM_047431668.1:c.-165C>T, XM_047431668.1:c.-165C>A, XM_047431664.1:c.376C>T, XM_047431664.1:c.376C>A, XM_047431660.1:c.376C>T, XM_047431660.1:c.376C>A, XM_047431662.1:c.376C>T, XM_047431662.1:c.376C>A, XM_047431663.1:c.376C>T, XM_047431663.1:c.376C>A, XM_047431666.1:c.376C>T, XM_047431666.1:c.376C>A, XM_047431665.1:c.376C>T, XM_047431665.1:c.376C>A, XM_047431669.1:c.-165C>T, XM_047431669.1:c.-165C>A, XM_047431671.1:c.-165C>T, XM_047431671.1:c.-165C>A, XM_047431672.1:c.-165C>T, XM_047431672.1:c.-165C>A, NM_001282969.1:c.-165C>T, NM_001282969.1:c.-165C>A, XP_011535362.1:p.Pro126Ser, XP_011535362.1:p.Pro126Thr, NP_068763.2:p.Pro126Ser, NP_068763.2:p.Pro126Thr, XP_016877059.1:p.Pro126Ser, XP_016877059.1:p.Pro126Thr, XP_016877061.1:p.Pro126Ser, XP_016877061.1:p.Pro126Thr, XP_016877063.1:p.Pro126Ser, XP_016877063.1:p.Pro126Thr, XP_011535364.1:p.Pro126Ser, XP_011535364.1:p.Pro126Thr, XP_005268029.1:p.Pro126Ser, XP_005268029.1:p.Pro126Thr, NP_001124178.1:p.Pro126Ser, NP_001124178.1:p.Pro126Thr, NP_001124180.1:p.Pro126Ser, NP_001124180.1:p.Pro126Thr, XP_016877062.1:p.Pro126Ser, XP_016877062.1:p.Pro126Thr, XP_011535361.1:p.Pro126Ser, XP_011535361.1:p.Pro126Thr, XP_005268028.1:p.Pro126Ser, XP_005268028.1:p.Pro126Thr, NP_001269899.1:p.Pro126Ser, NP_001269899.1:p.Pro126Thr, XP_047287617.1:p.Pro126Ser, XP_047287617.1:p.Pro126Thr, XP_047287620.1:p.Pro126Ser, XP_047287620.1:p.Pro126Thr, XP_047287616.1:p.Pro126Ser, XP_047287616.1:p.Pro126Thr, XP_047287618.1:p.Pro126Ser, XP_047287618.1:p.Pro126Thr, XP_047287619.1:p.Pro126Ser, XP_047287619.1:p.Pro126Thr, XP_047287622.1:p.Pro126Ser, XP_047287622.1:p.Pro126Thr, XP_047287621.1:p.Pro126Ser, XP_047287621.1:p.Pro126Thr

                                  17.

                                  rs1454839715 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    14:22990095 (GRCh38)
                                    14:23459304 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:22990094:G:T
                                    Gene:
                                    C14orf93 (Varview), AJUBA-DT (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000014.9:g.22990095G>T, NC_000014.8:g.23459304G>T, XM_011537060.4:c.951C>A, XM_011537060.3:c.951C>A, XM_011537060.2:c.951C>A, XM_011537060.1:c.951C>A, NM_021944.4:c.951C>A, NM_021944.3:c.951C>A, NM_021944.2:c.951C>A, XM_017021575.3:c.411C>A, XM_017021575.2:c.411C>A, XM_017021575.1:c.411C>A, XM_017021570.3:c.951C>A, XM_017021570.2:c.951C>A, XM_017021570.1:c.951C>A, XM_017021572.3:c.951C>A, XM_017021572.2:c.951C>A, XM_017021572.1:c.951C>A, XM_017021574.3:c.951C>A, XM_017021574.2:c.951C>A, XM_017021574.1:c.951C>A, XM_011537062.3:c.951C>A, XM_011537062.2:c.951C>A, XM_011537062.1:c.951C>A, XM_005267972.3:c.951C>A, XM_005267972.2:c.951C>A, XM_005267972.1:c.951C>A, NM_001130706.3:c.951C>A, NM_001130706.2:c.951C>A, NM_001130706.1:c.951C>A, NM_001130708.3:c.951C>A, NM_001130708.2:c.951C>A, NM_001130708.1:c.951C>A, XM_006720232.3:c.411C>A, XM_006720232.2:c.411C>A, XM_006720232.1:c.411C>A, XM_017021573.2:c.951C>A, XM_017021573.1:c.951C>A, XM_011537059.2:c.951C>A, XM_011537059.1:c.951C>A, XM_005267971.2:c.951C>A, XM_005267971.1:c.951C>A, XM_017021576.2:c.411C>A, XM_017021576.1:c.411C>A, NM_001282968.2:c.411C>A, NM_001282968.1:c.411C>A, XM_006720231.2:c.411C>A, XM_006720231.1:c.411C>A, NM_001282970.2:c.951C>A, NM_001282970.1:c.951C>A, XM_047431661.1:c.951C>A, XM_047431667.1:c.411C>A, XM_047431668.1:c.411C>A, XM_047431664.1:c.951C>A, XM_047431660.1:c.951C>A, XM_047431662.1:c.951C>A, XM_047431663.1:c.951C>A, XM_047431666.1:c.951C>A, XM_047431665.1:c.951C>A, XM_047431669.1:c.411C>A, XM_047431671.1:c.411C>A, XM_047431672.1:c.411C>A, XR_007064074.1:n.844G>T, NM_001282969.1:c.411C>A

                                    18.

                                    rs1453967812 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      14:22989765 (GRCh38)
                                      14:23458974 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:22989764:T:C
                                      Gene:
                                      C14orf93 (Varview), AJUBA-DT (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000014.9:g.22989765T>C, NC_000014.8:g.23458974T>C, XM_011537060.4:c.1061A>G, XM_011537060.3:c.1061A>G, XM_011537060.2:c.1061A>G, XM_011537060.1:c.1061A>G, NM_021944.4:c.1061A>G, NM_021944.3:c.1061A>G, NM_021944.2:c.1061A>G, XM_017021575.3:c.521A>G, XM_017021575.2:c.521A>G, XM_017021575.1:c.521A>G, XM_017021570.3:c.1061A>G, XM_017021570.2:c.1061A>G, XM_017021570.1:c.1061A>G, XM_017021572.3:c.1061A>G, XM_017021572.2:c.1061A>G, XM_017021572.1:c.1061A>G, XM_017021574.3:c.1061A>G, XM_017021574.2:c.1061A>G, XM_017021574.1:c.1061A>G, XM_011537062.3:c.1061A>G, XM_011537062.2:c.1061A>G, XM_011537062.1:c.1061A>G, XM_005267972.3:c.1061A>G, XM_005267972.2:c.1061A>G, XM_005267972.1:c.1061A>G, NM_001130706.3:c.1061A>G, NM_001130706.2:c.1061A>G, NM_001130706.1:c.1061A>G, NM_001130708.3:c.1061A>G, NM_001130708.2:c.1061A>G, NM_001130708.1:c.1061A>G, XM_006720232.3:c.521A>G, XM_006720232.2:c.521A>G, XM_006720232.1:c.521A>G, XM_017021573.2:c.1061A>G, XM_017021573.1:c.1061A>G, XM_011537059.2:c.1061A>G, XM_011537059.1:c.1061A>G, XM_005267971.2:c.1061A>G, XM_005267971.1:c.1061A>G, XM_017021576.2:c.521A>G, XM_017021576.1:c.521A>G, NM_001282968.2:c.521A>G, NM_001282968.1:c.521A>G, XM_006720231.2:c.521A>G, XM_006720231.1:c.521A>G, NM_001282970.2:c.1061A>G, NM_001282970.1:c.1061A>G, XM_047431661.1:c.1061A>G, XM_047431667.1:c.521A>G, XM_047431668.1:c.521A>G, XM_047431664.1:c.1061A>G, XM_047431660.1:c.1061A>G, XM_047431662.1:c.1061A>G, XM_047431663.1:c.1061A>G, XM_047431666.1:c.1061A>G, XM_047431665.1:c.1061A>G, XM_047431669.1:c.521A>G, XM_047431671.1:c.521A>G, XM_047431672.1:c.521A>G, XR_007064074.1:n.514T>C, NM_001282969.1:c.521A>G, XP_011535362.1:p.Asn354Ser, NP_068763.2:p.Asn354Ser, XP_016877064.1:p.Asn174Ser, XP_016877059.1:p.Asn354Ser, XP_016877061.1:p.Asn354Ser, XP_016877063.1:p.Asn354Ser, XP_011535364.1:p.Asn354Ser, XP_005268029.1:p.Asn354Ser, NP_001124178.1:p.Asn354Ser, NP_001124180.1:p.Asn354Ser, XP_006720295.1:p.Asn174Ser, XP_016877062.1:p.Asn354Ser, XP_011535361.1:p.Asn354Ser, XP_005268028.1:p.Asn354Ser, XP_016877065.1:p.Asn174Ser, NP_001269897.1:p.Asn174Ser, XP_006720294.1:p.Asn174Ser, NP_001269899.1:p.Asn354Ser, XP_047287617.1:p.Asn354Ser, XP_047287623.1:p.Asn174Ser, XP_047287624.1:p.Asn174Ser, XP_047287620.1:p.Asn354Ser, XP_047287616.1:p.Asn354Ser, XP_047287618.1:p.Asn354Ser, XP_047287619.1:p.Asn354Ser, XP_047287622.1:p.Asn354Ser, XP_047287621.1:p.Asn354Ser, XP_047287625.1:p.Asn174Ser, XP_047287627.1:p.Asn174Ser, XP_047287628.1:p.Asn174Ser, NP_001269898.1:p.Asn174Ser

                                      19.

                                      rs1452469356 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        14:22987225 (GRCh38)
                                        14:23456434 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:22987224:TTTT:TTT
                                        Gene:
                                        C14orf93 (Varview), AJUBA-DT (Varview)
                                        Functional Consequence:
                                        frameshift_variant,intron_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTT=0./0 (ALFA)
                                        -=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000014.9:g.22987228del, NC_000014.8:g.23456437del, XM_011537060.4:c.1607del, XM_011537060.3:c.1607del, XM_011537060.2:c.1607del, XM_011537060.1:c.1607del, NM_021944.4:c.1607del, NM_021944.3:c.1607del, NM_021944.2:c.1607del, XM_017021575.3:c.1067del, XM_017021575.2:c.1067del, XM_017021575.1:c.1067del, XM_017021570.3:c.1607del, XM_017021570.2:c.1607del, XM_017021570.1:c.1607del, XM_017021572.3:c.1607del, XM_017021572.2:c.1607del, XM_017021572.1:c.1607del, XM_017021574.3:c.1607del, XM_017021574.2:c.1607del, XM_017021574.1:c.1607del, XM_011537062.3:c.1607del, XM_011537062.2:c.1607del, XM_011537062.1:c.1607del, XM_005267972.3:c.1607del, XM_005267972.2:c.1607del, XM_005267972.1:c.1607del, NM_001130706.3:c.1607del, NM_001130706.2:c.1607del, NM_001130706.1:c.1607del, NM_001130708.3:c.1607del, NM_001130708.2:c.1607del, NM_001130708.1:c.1607del, XM_006720232.3:c.1067del, XM_006720232.2:c.1067del, XM_006720232.1:c.1067del, XM_017021573.2:c.1607del, XM_017021573.1:c.1607del, XM_011537059.2:c.1607del, XM_011537059.1:c.1607del, XM_005267971.2:c.1607del, XM_005267971.1:c.1607del, XM_017021576.2:c.1067del, XM_017021576.1:c.1067del, NM_001282968.2:c.1067del, NM_001282968.1:c.1067del, XM_006720231.2:c.1067del, XM_006720231.1:c.1067del, NM_001282970.2:c.1487del, NM_001282970.1:c.1487del, XM_047431661.1:c.1607del, XM_047431667.1:c.1067del, XM_047431668.1:c.1067del, XM_047431664.1:c.1607del, XM_047431660.1:c.1607del, XM_047431662.1:c.1607del, XM_047431663.1:c.1607del, XM_047431666.1:c.1607del, XM_047431665.1:c.1607del, XM_047431669.1:c.1067del, XM_047431671.1:c.1067del, XM_047431672.1:c.1067del, NM_001282969.1:c.1067del, XP_011535362.1:p.Lys536fs, NP_068763.2:p.Lys536fs, XP_016877064.1:p.Lys356fs, XP_016877059.1:p.Lys536fs, XP_016877061.1:p.Lys536fs, XP_016877063.1:p.Lys536fs, XP_011535364.1:p.Lys536fs, XP_005268029.1:p.Lys536fs, NP_001124178.1:p.Lys536fs, NP_001124180.1:p.Lys536fs, XP_006720295.1:p.Lys356fs, XP_016877062.1:p.Lys536fs, XP_011535361.1:p.Lys536fs, XP_005268028.1:p.Lys536fs, XP_016877065.1:p.Lys356fs, NP_001269897.1:p.Lys356fs, XP_006720294.1:p.Lys356fs, NP_001269899.1:p.Lys496fs, XP_047287617.1:p.Lys536fs, XP_047287623.1:p.Lys356fs, XP_047287624.1:p.Lys356fs, XP_047287620.1:p.Lys536fs, XP_047287616.1:p.Lys536fs, XP_047287618.1:p.Lys536fs, XP_047287619.1:p.Lys536fs, XP_047287622.1:p.Lys536fs, XP_047287621.1:p.Lys536fs, XP_047287625.1:p.Lys356fs, XP_047287627.1:p.Lys356fs, XP_047287628.1:p.Lys356fs, NP_001269898.1:p.Lys356fs

                                        20.

                                        rs1451078598 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          14:22998710 (GRCh38)
                                          14:23467919 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:22998709:A:C
                                          Gene:
                                          C14orf93 (Varview), AJUBA-DT (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000014.9:g.22998710A>C, NC_000014.8:g.23467919A>C, XM_011537060.4:c.314T>G, XM_011537060.3:c.314T>G, XM_011537060.2:c.314T>G, XM_011537060.1:c.314T>G, NM_021944.4:c.314T>G, NM_021944.3:c.314T>G, NM_021944.2:c.314T>G, XM_017021575.3:c.-227T>G, XM_017021575.2:c.-227T>G, XM_017021575.1:c.-227T>G, XM_017021570.3:c.314T>G, XM_017021570.2:c.314T>G, XM_017021570.1:c.314T>G, XM_017021572.3:c.314T>G, XM_017021572.2:c.314T>G, XM_017021572.1:c.314T>G, XM_017021574.3:c.314T>G, XM_017021574.2:c.314T>G, XM_017021574.1:c.314T>G, XM_011537062.3:c.314T>G, XM_011537062.2:c.314T>G, XM_011537062.1:c.314T>G, XM_005267972.3:c.314T>G, XM_005267972.2:c.314T>G, XM_005267972.1:c.314T>G, NM_001130706.3:c.314T>G, NM_001130706.2:c.314T>G, NM_001130706.1:c.314T>G, NM_001130708.3:c.314T>G, NM_001130708.2:c.314T>G, NM_001130708.1:c.314T>G, XM_006720232.3:c.-227T>G, XM_006720232.2:c.-227T>G, XM_006720232.1:c.-227T>G, XM_017021573.2:c.314T>G, XM_017021573.1:c.314T>G, XM_011537059.2:c.314T>G, XM_011537059.1:c.314T>G, XM_005267971.2:c.314T>G, XM_005267971.1:c.314T>G, XM_017021576.2:c.-227T>G, XM_017021576.1:c.-227T>G, NM_001282968.2:c.-227T>G, NM_001282968.1:c.-227T>G, XM_006720231.2:c.-227T>G, XM_006720231.1:c.-227T>G, NM_001282970.2:c.314T>G, NM_001282970.1:c.314T>G, XM_047431661.1:c.314T>G, XM_047431667.1:c.-227T>G, XM_047431668.1:c.-227T>G, XM_047431664.1:c.314T>G, XM_047431660.1:c.314T>G, XM_047431662.1:c.314T>G, XM_047431663.1:c.314T>G, XM_047431666.1:c.314T>G, XM_047431665.1:c.314T>G, XM_047431669.1:c.-227T>G, XM_047431671.1:c.-227T>G, XM_047431672.1:c.-227T>G, NM_001282969.1:c.-227T>G, XP_011535362.1:p.Val105Gly, NP_068763.2:p.Val105Gly, XP_016877059.1:p.Val105Gly, XP_016877061.1:p.Val105Gly, XP_016877063.1:p.Val105Gly, XP_011535364.1:p.Val105Gly, XP_005268029.1:p.Val105Gly, NP_001124178.1:p.Val105Gly, NP_001124180.1:p.Val105Gly, XP_016877062.1:p.Val105Gly, XP_011535361.1:p.Val105Gly, XP_005268028.1:p.Val105Gly, NP_001269899.1:p.Val105Gly, XP_047287617.1:p.Val105Gly, XP_047287620.1:p.Val105Gly, XP_047287616.1:p.Val105Gly, XP_047287618.1:p.Val105Gly, XP_047287619.1:p.Val105Gly, XP_047287622.1:p.Val105Gly, XP_047287621.1:p.Val105Gly

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