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Items: 1 to 20 of 440

1.

rs1490701396 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    1:40070958 (GRCh38)
    1:40536630 (GRCh37)
    Canonical SPDI:
    NC_000001.11:40070957:T:A
    Gene:
    CAP1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.40070958T>A, NC_000001.10:g.40536630T>A, NG_009192.1:g.31513A>T, NG_082036.1:g.1220T>A, NM_006367.4:c.1323T>A, NM_006367.3:c.1323T>A, NM_001350477.3:c.1323T>A, NM_001350477.2:c.1323T>A, NM_001350477.1:c.1323T>A, NM_001350479.2:c.1323T>A, NM_001350479.1:c.1323T>A, NM_001350480.2:c.1323T>A, NM_001350480.1:c.1323T>A, XM_017000069.2:c.1323T>A, XM_017000069.1:c.1323T>A, NM_001350478.2:c.1323T>A, NM_001350478.1:c.1323T>A, NM_001350484.2:c.1320T>A, NM_001350484.1:c.1320T>A, NM_001350475.2:c.1323T>A, NM_001350475.1:c.1323T>A, NM_001350481.2:c.1323T>A, NM_001350481.1:c.1323T>A, XM_011540515.2:c.1320T>A, XM_011540515.1:c.1320T>A, XM_011540510.2:c.1323T>A, XM_011540510.1:c.1323T>A, NM_001350482.2:c.1320T>A, NM_001350482.1:c.1320T>A, NM_001330502.2:c.1320T>A, NM_001330502.1:c.1320T>A, NM_001350476.2:c.1323T>A, NM_001350476.1:c.1323T>A, NM_001350483.2:c.1320T>A, NM_001350483.1:c.1320T>A, NM_001105530.2:c.1323T>A, NM_001105530.1:c.1323T>A, NM_001350485.2:c.1320T>A, NM_001350485.1:c.1320T>A, XM_047431628.1:c.1320T>A, XM_047431636.1:c.1320T>A, XM_047431580.1:c.1320T>A, XM_047431489.1:c.1323T>A, XM_047431520.1:c.1320T>A, XM_047431420.1:c.1323T>A, XM_047431616.1:c.1320T>A, XM_047431603.1:c.1320T>A

    2.

    rs1489811865 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:40069756 (GRCh38)
      1:40535428 (GRCh37)
      Canonical SPDI:
      NC_000001.11:40069755:C:T
      Gene:
      CAP1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.40069756C>T, NC_000001.10:g.40535428C>T, NG_082036.1:g.18C>T, NM_006367.4:c.875C>T, NM_006367.3:c.875C>T, NM_001350477.3:c.875C>T, NM_001350477.2:c.875C>T, NM_001350477.1:c.875C>T, NM_001350479.2:c.875C>T, NM_001350479.1:c.875C>T, NM_001350480.2:c.875C>T, NM_001350480.1:c.875C>T, XM_017000069.2:c.875C>T, XM_017000069.1:c.875C>T, NM_001350478.2:c.875C>T, NM_001350478.1:c.875C>T, NM_001350484.2:c.872C>T, NM_001350484.1:c.872C>T, NM_001350475.2:c.875C>T, NM_001350475.1:c.875C>T, NM_001350481.2:c.875C>T, NM_001350481.1:c.875C>T, XM_011540515.2:c.872C>T, XM_011540515.1:c.872C>T, XM_011540510.2:c.875C>T, XM_011540510.1:c.875C>T, NM_001350482.2:c.872C>T, NM_001350482.1:c.872C>T, NM_001330502.2:c.872C>T, NM_001330502.1:c.872C>T, NM_001350476.2:c.875C>T, NM_001350476.1:c.875C>T, NM_001350483.2:c.872C>T, NM_001350483.1:c.872C>T, NM_001105530.2:c.875C>T, NM_001105530.1:c.875C>T, NM_001350485.2:c.872C>T, NM_001350485.1:c.872C>T, XM_047431628.1:c.872C>T, XM_047431636.1:c.872C>T, XM_047431580.1:c.872C>T, XM_047431489.1:c.875C>T, XM_047431520.1:c.872C>T, XM_047431420.1:c.875C>T, XM_047431616.1:c.872C>T, XM_047431603.1:c.872C>T, NP_006358.2:p.Pro292Leu, NP_001337406.2:p.Pro292Leu, NP_001337408.2:p.Pro292Leu, NP_001337409.2:p.Pro292Leu, XP_016855558.1:p.Pro292Leu, NP_001337407.2:p.Pro292Leu, NP_001337413.2:p.Pro291Leu, NP_001337404.2:p.Pro292Leu, NP_001337410.2:p.Pro292Leu, XP_011538817.1:p.Pro291Leu, XP_011538812.1:p.Pro292Leu, NP_001337411.2:p.Pro291Leu, NP_001317431.2:p.Pro291Leu, NP_001337405.2:p.Pro292Leu, NP_001337412.2:p.Pro291Leu, NP_001099000.2:p.Pro292Leu, NP_001337414.2:p.Pro291Leu, XP_047287584.1:p.Pro291Leu, XP_047287592.1:p.Pro291Leu, XP_047287536.1:p.Pro291Leu, XP_047287445.1:p.Pro292Leu, XP_047287476.1:p.Pro291Leu, XP_047287376.1:p.Pro292Leu, XP_047287572.1:p.Pro291Leu, XP_047287559.1:p.Pro291Leu

      3.

      rs1488844900 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:40067633 (GRCh38)
        1:40533305 (GRCh37)
        Canonical SPDI:
        NC_000001.11:40067632:G:A
        Gene:
        CAP1 (Varview)
        Functional Consequence:
        missense_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)
        A=0.000009/2 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.40067633G>A, NC_000001.10:g.40533305G>A, NM_006367.4:c.724G>A, NM_006367.3:c.724G>A, NM_001350477.3:c.724G>A, NM_001350477.2:c.724G>A, NM_001350477.1:c.724G>A, NM_001350479.2:c.724G>A, NM_001350479.1:c.724G>A, NM_001350480.2:c.724G>A, NM_001350480.1:c.724G>A, XM_017000069.2:c.724G>A, XM_017000069.1:c.724G>A, NM_001350478.2:c.724G>A, NM_001350478.1:c.724G>A, NM_001350484.2:c.721G>A, NM_001350484.1:c.721G>A, NM_001350475.2:c.724G>A, NM_001350475.1:c.724G>A, NM_001350481.2:c.724G>A, NM_001350481.1:c.724G>A, XM_011540515.2:c.721G>A, XM_011540515.1:c.721G>A, XM_011540510.2:c.724G>A, XM_011540510.1:c.724G>A, NM_001350482.2:c.721G>A, NM_001350482.1:c.721G>A, NM_001330502.2:c.721G>A, NM_001330502.1:c.721G>A, NM_001350476.2:c.724G>A, NM_001350476.1:c.724G>A, NM_001350483.2:c.721G>A, NM_001350483.1:c.721G>A, NM_001105530.2:c.724G>A, NM_001105530.1:c.724G>A, NM_001350485.2:c.721G>A, NM_001350485.1:c.721G>A, XM_047431628.1:c.721G>A, XM_047431636.1:c.721G>A, XM_047431580.1:c.721G>A, XM_047431489.1:c.724G>A, XM_047431520.1:c.721G>A, XM_047431420.1:c.724G>A, XM_047431616.1:c.721G>A, XM_047431603.1:c.721G>A, NP_006358.2:p.Val242Ile, NP_001337406.2:p.Val242Ile, NP_001337408.2:p.Val242Ile, NP_001337409.2:p.Val242Ile, XP_016855558.1:p.Val242Ile, NP_001337407.2:p.Val242Ile, NP_001337413.2:p.Val241Ile, NP_001337404.2:p.Val242Ile, NP_001337410.2:p.Val242Ile, XP_011538817.1:p.Val241Ile, XP_011538812.1:p.Val242Ile, NP_001337411.2:p.Val241Ile, NP_001317431.2:p.Val241Ile, NP_001337405.2:p.Val242Ile, NP_001337412.2:p.Val241Ile, NP_001099000.2:p.Val242Ile, NP_001337414.2:p.Val241Ile, XP_047287584.1:p.Val241Ile, XP_047287592.1:p.Val241Ile, XP_047287536.1:p.Val241Ile, XP_047287445.1:p.Val242Ile, XP_047287476.1:p.Val241Ile, XP_047287376.1:p.Val242Ile, XP_047287572.1:p.Val241Ile, XP_047287559.1:p.Val241Ile

        4.

        rs1488105825 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:40069823 (GRCh38)
          1:40535495 (GRCh37)
          Canonical SPDI:
          NC_000001.11:40069822:C:T
          Gene:
          CAP1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.40069823C>T, NC_000001.10:g.40535495C>T, NG_082036.1:g.85C>T, NM_006367.4:c.942C>T, NM_006367.3:c.942C>T, NM_001350477.3:c.942C>T, NM_001350477.2:c.942C>T, NM_001350477.1:c.942C>T, NM_001350479.2:c.942C>T, NM_001350479.1:c.942C>T, NM_001350480.2:c.942C>T, NM_001350480.1:c.942C>T, XM_017000069.2:c.942C>T, XM_017000069.1:c.942C>T, NM_001350478.2:c.942C>T, NM_001350478.1:c.942C>T, NM_001350484.2:c.939C>T, NM_001350484.1:c.939C>T, NM_001350475.2:c.942C>T, NM_001350475.1:c.942C>T, NM_001350481.2:c.942C>T, NM_001350481.1:c.942C>T, XM_011540515.2:c.939C>T, XM_011540515.1:c.939C>T, XM_011540510.2:c.942C>T, XM_011540510.1:c.942C>T, NM_001350482.2:c.939C>T, NM_001350482.1:c.939C>T, NM_001330502.2:c.939C>T, NM_001330502.1:c.939C>T, NM_001350476.2:c.942C>T, NM_001350476.1:c.942C>T, NM_001350483.2:c.939C>T, NM_001350483.1:c.939C>T, NM_001105530.2:c.942C>T, NM_001105530.1:c.942C>T, NM_001350485.2:c.939C>T, NM_001350485.1:c.939C>T, XM_047431628.1:c.939C>T, XM_047431636.1:c.939C>T, XM_047431580.1:c.939C>T, XM_047431489.1:c.942C>T, XM_047431520.1:c.939C>T, XM_047431420.1:c.942C>T, XM_047431616.1:c.939C>T, XM_047431603.1:c.939C>T

          5.

          rs1483800314 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:40064497 (GRCh38)
            1:40530169 (GRCh37)
            Canonical SPDI:
            NC_000001.11:40064496:G:A
            Gene:
            CAP1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000019/5 (TOPMED)
            HGVS:
            NC_000001.11:g.40064497G>A, NC_000001.10:g.40530169G>A, NM_006367.4:c.462G>A, NM_006367.3:c.462G>A, NM_001350477.3:c.462G>A, NM_001350477.2:c.462G>A, NM_001350477.1:c.462G>A, NM_001350479.2:c.462G>A, NM_001350479.1:c.462G>A, NM_001350480.2:c.462G>A, NM_001350480.1:c.462G>A, XM_017000069.2:c.462G>A, XM_017000069.1:c.462G>A, NM_001350478.2:c.462G>A, NM_001350478.1:c.462G>A, NM_001350484.2:c.459G>A, NM_001350484.1:c.459G>A, NM_001350475.2:c.462G>A, NM_001350475.1:c.462G>A, NM_001350481.2:c.462G>A, NM_001350481.1:c.462G>A, XM_011540515.2:c.459G>A, XM_011540515.1:c.459G>A, XM_011540510.2:c.462G>A, XM_011540510.1:c.462G>A, NM_001350482.2:c.459G>A, NM_001350482.1:c.459G>A, NM_001330502.2:c.459G>A, NM_001330502.1:c.459G>A, NM_001350476.2:c.462G>A, NM_001350476.1:c.462G>A, NM_001350483.2:c.459G>A, NM_001350483.1:c.459G>A, NM_001105530.2:c.462G>A, NM_001105530.1:c.462G>A, NM_001350485.2:c.459G>A, NM_001350485.1:c.459G>A, XM_047431628.1:c.459G>A, XM_047431636.1:c.459G>A, XM_047431580.1:c.459G>A, XM_047431489.1:c.462G>A, XM_047431520.1:c.459G>A, XM_047431420.1:c.462G>A, XM_047431616.1:c.459G>A, XM_047431603.1:c.459G>A

            6.

            rs1482852758 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:40064308 (GRCh38)
              1:40529980 (GRCh37)
              Canonical SPDI:
              NC_000001.11:40064307:A:G
              Gene:
              CAP1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.40064308A>G, NC_000001.10:g.40529980A>G, NM_006367.4:c.376A>G, NM_006367.3:c.376A>G, NM_001350477.3:c.376A>G, NM_001350477.2:c.376A>G, NM_001350477.1:c.376A>G, NM_001350479.2:c.376A>G, NM_001350479.1:c.376A>G, NM_001350480.2:c.376A>G, NM_001350480.1:c.376A>G, XM_017000069.2:c.376A>G, XM_017000069.1:c.376A>G, NM_001350478.2:c.376A>G, NM_001350478.1:c.376A>G, NM_001350484.2:c.373A>G, NM_001350484.1:c.373A>G, NM_001350475.2:c.376A>G, NM_001350475.1:c.376A>G, NM_001350481.2:c.376A>G, NM_001350481.1:c.376A>G, XM_011540515.2:c.373A>G, XM_011540515.1:c.373A>G, XM_011540510.2:c.376A>G, XM_011540510.1:c.376A>G, NM_001350482.2:c.373A>G, NM_001350482.1:c.373A>G, NM_001330502.2:c.373A>G, NM_001330502.1:c.373A>G, NM_001350476.2:c.376A>G, NM_001350476.1:c.376A>G, NM_001350483.2:c.373A>G, NM_001350483.1:c.373A>G, NM_001105530.2:c.376A>G, NM_001105530.1:c.376A>G, NM_001350485.2:c.373A>G, NM_001350485.1:c.373A>G, XM_047431628.1:c.373A>G, XM_047431636.1:c.373A>G, XM_047431580.1:c.373A>G, XM_047431489.1:c.376A>G, XM_047431520.1:c.373A>G, XM_047431420.1:c.376A>G, XM_047431616.1:c.373A>G, XM_047431603.1:c.373A>G, NP_006358.2:p.Lys126Glu, NP_001337406.2:p.Lys126Glu, NP_001337408.2:p.Lys126Glu, NP_001337409.2:p.Lys126Glu, XP_016855558.1:p.Lys126Glu, NP_001337407.2:p.Lys126Glu, NP_001337413.2:p.Lys125Glu, NP_001337404.2:p.Lys126Glu, NP_001337410.2:p.Lys126Glu, XP_011538817.1:p.Lys125Glu, XP_011538812.1:p.Lys126Glu, NP_001337411.2:p.Lys125Glu, NP_001317431.2:p.Lys125Glu, NP_001337405.2:p.Lys126Glu, NP_001337412.2:p.Lys125Glu, NP_001099000.2:p.Lys126Glu, NP_001337414.2:p.Lys125Glu, XP_047287584.1:p.Lys125Glu, XP_047287592.1:p.Lys125Glu, XP_047287536.1:p.Lys125Glu, XP_047287445.1:p.Lys126Glu, XP_047287476.1:p.Lys125Glu, XP_047287376.1:p.Lys126Glu, XP_047287572.1:p.Lys125Glu, XP_047287559.1:p.Lys125Glu

              7.

              rs1480765543 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:40070465 (GRCh38)
                1:40536137 (GRCh37)
                Canonical SPDI:
                NC_000001.11:40070464:G:A
                Gene:
                CAP1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.40070465G>A, NC_000001.10:g.40536137G>A, NG_082036.1:g.727G>A, NM_006367.4:c.1153G>A, NM_006367.3:c.1153G>A, NM_001350477.3:c.1153G>A, NM_001350477.2:c.1153G>A, NM_001350477.1:c.1153G>A, NM_001350479.2:c.1153G>A, NM_001350479.1:c.1153G>A, NM_001350480.2:c.1153G>A, NM_001350480.1:c.1153G>A, XM_017000069.2:c.1153G>A, XM_017000069.1:c.1153G>A, NM_001350478.2:c.1153G>A, NM_001350478.1:c.1153G>A, NM_001350484.2:c.1150G>A, NM_001350484.1:c.1150G>A, NM_001350475.2:c.1153G>A, NM_001350475.1:c.1153G>A, NM_001350481.2:c.1153G>A, NM_001350481.1:c.1153G>A, XM_011540515.2:c.1150G>A, XM_011540515.1:c.1150G>A, XM_011540510.2:c.1153G>A, XM_011540510.1:c.1153G>A, NM_001350482.2:c.1150G>A, NM_001350482.1:c.1150G>A, NM_001330502.2:c.1150G>A, NM_001330502.1:c.1150G>A, NM_001350476.2:c.1153G>A, NM_001350476.1:c.1153G>A, NM_001350483.2:c.1150G>A, NM_001350483.1:c.1150G>A, NM_001105530.2:c.1153G>A, NM_001105530.1:c.1153G>A, NM_001350485.2:c.1150G>A, NM_001350485.1:c.1150G>A, XM_047431628.1:c.1150G>A, XM_047431636.1:c.1150G>A, XM_047431580.1:c.1150G>A, XM_047431489.1:c.1153G>A, XM_047431520.1:c.1150G>A, XM_047431420.1:c.1153G>A, XM_047431616.1:c.1150G>A, XM_047431603.1:c.1150G>A, NP_006358.2:p.Val385Met, NP_001337406.2:p.Val385Met, NP_001337408.2:p.Val385Met, NP_001337409.2:p.Val385Met, XP_016855558.1:p.Val385Met, NP_001337407.2:p.Val385Met, NP_001337413.2:p.Val384Met, NP_001337404.2:p.Val385Met, NP_001337410.2:p.Val385Met, XP_011538817.1:p.Val384Met, XP_011538812.1:p.Val385Met, NP_001337411.2:p.Val384Met, NP_001317431.2:p.Val384Met, NP_001337405.2:p.Val385Met, NP_001337412.2:p.Val384Met, NP_001099000.2:p.Val385Met, NP_001337414.2:p.Val384Met, XP_047287584.1:p.Val384Met, XP_047287592.1:p.Val384Met, XP_047287536.1:p.Val384Met, XP_047287445.1:p.Val385Met, XP_047287476.1:p.Val384Met, XP_047287376.1:p.Val385Met, XP_047287572.1:p.Val384Met, XP_047287559.1:p.Val384Met

                8.

                rs1479545973 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:40070904 (GRCh38)
                  1:40536576 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:40070903:T:C
                  Gene:
                  CAP1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (GnomAD_exomes)
                  C=0.000014/2 (GnomAD)
                  C=0.000015/4 (TOPMED)
                  HGVS:
                  NC_000001.11:g.40070904T>C, NC_000001.10:g.40536576T>C, NG_009192.1:g.31567A>G, NG_082036.1:g.1166T>C, NM_006367.4:c.1269T>C, NM_006367.3:c.1269T>C, NM_001350477.3:c.1269T>C, NM_001350477.2:c.1269T>C, NM_001350477.1:c.1269T>C, NM_001350479.2:c.1269T>C, NM_001350479.1:c.1269T>C, NM_001350480.2:c.1269T>C, NM_001350480.1:c.1269T>C, XM_017000069.2:c.1269T>C, XM_017000069.1:c.1269T>C, NM_001350478.2:c.1269T>C, NM_001350478.1:c.1269T>C, NM_001350484.2:c.1266T>C, NM_001350484.1:c.1266T>C, NM_001350475.2:c.1269T>C, NM_001350475.1:c.1269T>C, NM_001350481.2:c.1269T>C, NM_001350481.1:c.1269T>C, XM_011540515.2:c.1266T>C, XM_011540515.1:c.1266T>C, XM_011540510.2:c.1269T>C, XM_011540510.1:c.1269T>C, NM_001350482.2:c.1266T>C, NM_001350482.1:c.1266T>C, NM_001330502.2:c.1266T>C, NM_001330502.1:c.1266T>C, NM_001350476.2:c.1269T>C, NM_001350476.1:c.1269T>C, NM_001350483.2:c.1266T>C, NM_001350483.1:c.1266T>C, NM_001105530.2:c.1269T>C, NM_001105530.1:c.1269T>C, NM_001350485.2:c.1266T>C, NM_001350485.1:c.1266T>C, XM_047431628.1:c.1266T>C, XM_047431636.1:c.1266T>C, XM_047431580.1:c.1266T>C, XM_047431489.1:c.1269T>C, XM_047431520.1:c.1266T>C, XM_047431420.1:c.1269T>C, XM_047431616.1:c.1266T>C, XM_047431603.1:c.1266T>C

                  9.

                  rs1478929988 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:40069699 (GRCh38)
                    1:40535371 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:40069698:A:G
                    Gene:
                    CAP1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.40069699A>G, NC_000001.10:g.40535371A>G, NM_006367.4:c.818A>G, NM_006367.3:c.818A>G, NM_001350477.3:c.818A>G, NM_001350477.2:c.818A>G, NM_001350477.1:c.818A>G, NM_001350479.2:c.818A>G, NM_001350479.1:c.818A>G, NM_001350480.2:c.818A>G, NM_001350480.1:c.818A>G, XM_017000069.2:c.818A>G, XM_017000069.1:c.818A>G, NM_001350478.2:c.818A>G, NM_001350478.1:c.818A>G, NM_001350484.2:c.815A>G, NM_001350484.1:c.815A>G, NM_001350475.2:c.818A>G, NM_001350475.1:c.818A>G, NM_001350481.2:c.818A>G, NM_001350481.1:c.818A>G, XM_011540515.2:c.815A>G, XM_011540515.1:c.815A>G, XM_011540510.2:c.818A>G, XM_011540510.1:c.818A>G, NM_001350482.2:c.815A>G, NM_001350482.1:c.815A>G, NM_001330502.2:c.815A>G, NM_001330502.1:c.815A>G, NM_001350476.2:c.818A>G, NM_001350476.1:c.818A>G, NM_001350483.2:c.815A>G, NM_001350483.1:c.815A>G, NM_001105530.2:c.818A>G, NM_001105530.1:c.818A>G, NM_001350485.2:c.815A>G, NM_001350485.1:c.815A>G, XM_047431628.1:c.815A>G, XM_047431636.1:c.815A>G, XM_047431580.1:c.815A>G, XM_047431489.1:c.818A>G, XM_047431520.1:c.815A>G, XM_047431420.1:c.818A>G, XM_047431616.1:c.815A>G, XM_047431603.1:c.815A>G, NP_006358.2:p.His273Arg, NP_001337406.2:p.His273Arg, NP_001337408.2:p.His273Arg, NP_001337409.2:p.His273Arg, XP_016855558.1:p.His273Arg, NP_001337407.2:p.His273Arg, NP_001337413.2:p.His272Arg, NP_001337404.2:p.His273Arg, NP_001337410.2:p.His273Arg, XP_011538817.1:p.His272Arg, XP_011538812.1:p.His273Arg, NP_001337411.2:p.His272Arg, NP_001317431.2:p.His272Arg, NP_001337405.2:p.His273Arg, NP_001337412.2:p.His272Arg, NP_001099000.2:p.His273Arg, NP_001337414.2:p.His272Arg, XP_047287584.1:p.His272Arg, XP_047287592.1:p.His272Arg, XP_047287536.1:p.His272Arg, XP_047287445.1:p.His273Arg, XP_047287476.1:p.His272Arg, XP_047287376.1:p.His273Arg, XP_047287572.1:p.His272Arg, XP_047287559.1:p.His272Arg

                    10.

                    rs1475440461 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      1:40060142 (GRCh38)
                      1:40525814 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:40060141:A:T
                      Gene:
                      CAP1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.40060142A>T, NC_000001.10:g.40525814A>T, NM_006367.4:c.188A>T, NM_006367.3:c.188A>T, NM_001350477.3:c.188A>T, NM_001350477.2:c.188A>T, NM_001350477.1:c.188A>T, NM_001350479.2:c.188A>T, NM_001350479.1:c.188A>T, NM_001350480.2:c.188A>T, NM_001350480.1:c.188A>T, XM_017000069.2:c.188A>T, XM_017000069.1:c.188A>T, NM_001350478.2:c.188A>T, NM_001350478.1:c.188A>T, NM_001350484.2:c.185A>T, NM_001350484.1:c.185A>T, NM_001350475.2:c.188A>T, NM_001350475.1:c.188A>T, NM_001350481.2:c.188A>T, NM_001350481.1:c.188A>T, XM_011540515.2:c.185A>T, XM_011540515.1:c.185A>T, XM_011540510.2:c.188A>T, XM_011540510.1:c.188A>T, NM_001350482.2:c.185A>T, NM_001350482.1:c.185A>T, NM_001330502.2:c.185A>T, NM_001330502.1:c.185A>T, NM_001350476.2:c.188A>T, NM_001350476.1:c.188A>T, NM_001350483.2:c.185A>T, NM_001350483.1:c.185A>T, NM_001105530.2:c.188A>T, NM_001105530.1:c.188A>T, NM_001350485.2:c.185A>T, NM_001350485.1:c.185A>T, XM_047431628.1:c.185A>T, XM_047431636.1:c.185A>T, XM_047431580.1:c.185A>T, XM_047431489.1:c.188A>T, XM_047431520.1:c.185A>T, XM_047431420.1:c.188A>T, XM_047431616.1:c.185A>T, XM_047431603.1:c.185A>T, NP_006358.2:p.Lys63Ile, NP_001337406.2:p.Lys63Ile, NP_001337408.2:p.Lys63Ile, NP_001337409.2:p.Lys63Ile, XP_016855558.1:p.Lys63Ile, NP_001337407.2:p.Lys63Ile, NP_001337413.2:p.Lys62Ile, NP_001337404.2:p.Lys63Ile, NP_001337410.2:p.Lys63Ile, XP_011538817.1:p.Lys62Ile, XP_011538812.1:p.Lys63Ile, NP_001337411.2:p.Lys62Ile, NP_001317431.2:p.Lys62Ile, NP_001337405.2:p.Lys63Ile, NP_001337412.2:p.Lys62Ile, NP_001099000.2:p.Lys63Ile, NP_001337414.2:p.Lys62Ile, XP_047287584.1:p.Lys62Ile, XP_047287592.1:p.Lys62Ile, XP_047287536.1:p.Lys62Ile, XP_047287445.1:p.Lys63Ile, XP_047287476.1:p.Lys62Ile, XP_047287376.1:p.Lys63Ile, XP_047287572.1:p.Lys62Ile, XP_047287559.1:p.Lys62Ile

                      11.

                      rs1474886791 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:40059372 (GRCh38)
                        1:40525044 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:40059371:A:G
                        Gene:
                        CAP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.40059372A>G, NC_000001.10:g.40525044A>G, NM_006367.4:c.26A>G, NM_006367.3:c.26A>G, NM_001350477.3:c.26A>G, NM_001350477.2:c.26A>G, NM_001350477.1:c.26A>G, NM_001350479.2:c.26A>G, NM_001350479.1:c.26A>G, NM_001350480.2:c.26A>G, NM_001350480.1:c.26A>G, XM_017000069.2:c.26A>G, XM_017000069.1:c.26A>G, NM_001350478.2:c.26A>G, NM_001350478.1:c.26A>G, NM_001350484.2:c.26A>G, NM_001350484.1:c.26A>G, NM_001350475.2:c.26A>G, NM_001350475.1:c.26A>G, NM_001350481.2:c.26A>G, NM_001350481.1:c.26A>G, XM_011540515.2:c.26A>G, XM_011540515.1:c.26A>G, XM_011540510.2:c.26A>G, XM_011540510.1:c.26A>G, NM_001350482.2:c.26A>G, NM_001350482.1:c.26A>G, NM_001330502.2:c.26A>G, NM_001330502.1:c.26A>G, NM_001350476.2:c.26A>G, NM_001350476.1:c.26A>G, NM_001350483.2:c.26A>G, NM_001350483.1:c.26A>G, NM_001105530.2:c.26A>G, NM_001105530.1:c.26A>G, NM_001350485.2:c.26A>G, NM_001350485.1:c.26A>G, XM_047431628.1:c.26A>G, XM_047431636.1:c.26A>G, XM_047431580.1:c.26A>G, XM_047431489.1:c.26A>G, XM_047431520.1:c.26A>G, XM_047431420.1:c.26A>G, XM_047431616.1:c.26A>G, XM_047431603.1:c.26A>G, NP_006358.2:p.Glu9Gly, NP_001337406.2:p.Glu9Gly, NP_001337408.2:p.Glu9Gly, NP_001337409.2:p.Glu9Gly, XP_016855558.1:p.Glu9Gly, NP_001337407.2:p.Glu9Gly, NP_001337413.2:p.Glu9Gly, NP_001337404.2:p.Glu9Gly, NP_001337410.2:p.Glu9Gly, XP_011538817.1:p.Glu9Gly, XP_011538812.1:p.Glu9Gly, NP_001337411.2:p.Glu9Gly, NP_001317431.2:p.Glu9Gly, NP_001337405.2:p.Glu9Gly, NP_001337412.2:p.Glu9Gly, NP_001099000.2:p.Glu9Gly, NP_001337414.2:p.Glu9Gly, XP_047287584.1:p.Glu9Gly, XP_047287592.1:p.Glu9Gly, XP_047287536.1:p.Glu9Gly, XP_047287445.1:p.Glu9Gly, XP_047287476.1:p.Glu9Gly, XP_047287376.1:p.Glu9Gly, XP_047287572.1:p.Glu9Gly, XP_047287559.1:p.Glu9Gly

                        12.

                        rs1473200841 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:40069828 (GRCh38)
                          1:40535500 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:40069827:A:G
                          Gene:
                          CAP1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000001.11:g.40069828A>G, NC_000001.10:g.40535500A>G, NG_082036.1:g.90A>G, NM_006367.4:c.947A>G, NM_006367.3:c.947A>G, NM_001350477.3:c.947A>G, NM_001350477.2:c.947A>G, NM_001350477.1:c.947A>G, NM_001350479.2:c.947A>G, NM_001350479.1:c.947A>G, NM_001350480.2:c.947A>G, NM_001350480.1:c.947A>G, XM_017000069.2:c.947A>G, XM_017000069.1:c.947A>G, NM_001350478.2:c.947A>G, NM_001350478.1:c.947A>G, NM_001350484.2:c.944A>G, NM_001350484.1:c.944A>G, NM_001350475.2:c.947A>G, NM_001350475.1:c.947A>G, NM_001350481.2:c.947A>G, NM_001350481.1:c.947A>G, XM_011540515.2:c.944A>G, XM_011540515.1:c.944A>G, XM_011540510.2:c.947A>G, XM_011540510.1:c.947A>G, NM_001350482.2:c.944A>G, NM_001350482.1:c.944A>G, NM_001330502.2:c.944A>G, NM_001330502.1:c.944A>G, NM_001350476.2:c.947A>G, NM_001350476.1:c.947A>G, NM_001350483.2:c.944A>G, NM_001350483.1:c.944A>G, NM_001105530.2:c.947A>G, NM_001105530.1:c.947A>G, NM_001350485.2:c.944A>G, NM_001350485.1:c.944A>G, XM_047431628.1:c.944A>G, XM_047431636.1:c.944A>G, XM_047431580.1:c.944A>G, XM_047431489.1:c.947A>G, XM_047431520.1:c.944A>G, XM_047431420.1:c.947A>G, XM_047431616.1:c.944A>G, XM_047431603.1:c.944A>G, NP_006358.2:p.Lys316Arg, NP_001337406.2:p.Lys316Arg, NP_001337408.2:p.Lys316Arg, NP_001337409.2:p.Lys316Arg, XP_016855558.1:p.Lys316Arg, NP_001337407.2:p.Lys316Arg, NP_001337413.2:p.Lys315Arg, NP_001337404.2:p.Lys316Arg, NP_001337410.2:p.Lys316Arg, XP_011538817.1:p.Lys315Arg, XP_011538812.1:p.Lys316Arg, NP_001337411.2:p.Lys315Arg, NP_001317431.2:p.Lys315Arg, NP_001337405.2:p.Lys316Arg, NP_001337412.2:p.Lys315Arg, NP_001099000.2:p.Lys316Arg, NP_001337414.2:p.Lys315Arg, XP_047287584.1:p.Lys315Arg, XP_047287592.1:p.Lys315Arg, XP_047287536.1:p.Lys315Arg, XP_047287445.1:p.Lys316Arg, XP_047287476.1:p.Lys315Arg, XP_047287376.1:p.Lys316Arg, XP_047287572.1:p.Lys315Arg, XP_047287559.1:p.Lys315Arg

                          13.

                          rs1472334686 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            CCCATCCCCCAAAC>- [Show Flanks]
                            Chromosome:
                            1:40069805 (GRCh38)
                            1:40535477 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:40069804:CCCATCCCCCAAAC:
                            Gene:
                            CAP1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            -=0.00182/21 (GoESP)
                            HGVS:
                            NC_000001.11:g.40069805_40069818del, NC_000001.10:g.40535477_40535490del, NG_082036.1:g.67_80del, NM_006367.4:c.924_937del, NM_006367.3:c.924_937del, NM_001350477.3:c.924_937del, NM_001350477.2:c.924_937del, NM_001350477.1:c.924_937del, NM_001350479.2:c.924_937del, NM_001350479.1:c.924_937del, NM_001350480.2:c.924_937del, NM_001350480.1:c.924_937del, XM_017000069.2:c.924_937del, XM_017000069.1:c.924_937del, NM_001350478.2:c.924_937del, NM_001350478.1:c.924_937del, NM_001350484.2:c.921_934del, NM_001350484.1:c.921_934del, NM_001350475.2:c.924_937del, NM_001350475.1:c.924_937del, NM_001350481.2:c.924_937del, NM_001350481.1:c.924_937del, XM_011540515.2:c.921_934del, XM_011540515.1:c.921_934del, XM_011540510.2:c.924_937del, XM_011540510.1:c.924_937del, NM_001350482.2:c.921_934del, NM_001350482.1:c.921_934del, NM_001330502.2:c.921_934del, NM_001330502.1:c.921_934del, NM_001350476.2:c.924_937del, NM_001350476.1:c.924_937del, NM_001350483.2:c.921_934del, NM_001350483.1:c.921_934del, NM_001105530.2:c.924_937del, NM_001105530.1:c.924_937del, NM_001350485.2:c.921_934del, NM_001350485.1:c.921_934del, XM_047431628.1:c.921_934del, XM_047431636.1:c.921_934del, XM_047431580.1:c.921_934del, XM_047431489.1:c.924_937del, XM_047431520.1:c.921_934del, XM_047431420.1:c.924_937del, XM_047431616.1:c.921_934del, XM_047431603.1:c.921_934del, NP_006358.2:p.Ser308fs, NP_001337406.2:p.Ser308fs, NP_001337408.2:p.Ser308fs, NP_001337409.2:p.Ser308fs, XP_016855558.1:p.Ser308fs, NP_001337407.2:p.Ser308fs, NP_001337413.2:p.Ser307fs, NP_001337404.2:p.Ser308fs, NP_001337410.2:p.Ser308fs, XP_011538817.1:p.Ser307fs, XP_011538812.1:p.Ser308fs, NP_001337411.2:p.Ser307fs, NP_001317431.2:p.Ser307fs, NP_001337405.2:p.Ser308fs, NP_001337412.2:p.Ser307fs, NP_001099000.2:p.Ser308fs, NP_001337414.2:p.Ser307fs, XP_047287584.1:p.Ser307fs, XP_047287592.1:p.Ser307fs, XP_047287536.1:p.Ser307fs, XP_047287445.1:p.Ser308fs, XP_047287476.1:p.Ser307fs, XP_047287376.1:p.Ser308fs, XP_047287572.1:p.Ser307fs, XP_047287559.1:p.Ser307fs

                            14.

                            rs1469718026 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:40069701 (GRCh38)
                              1:40535373 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:40069700:G:A
                              Gene:
                              CAP1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000001.11:g.40069701G>A, NC_000001.10:g.40535373G>A, NM_006367.4:c.820G>A, NM_006367.3:c.820G>A, NM_001350477.3:c.820G>A, NM_001350477.2:c.820G>A, NM_001350477.1:c.820G>A, NM_001350479.2:c.820G>A, NM_001350479.1:c.820G>A, NM_001350480.2:c.820G>A, NM_001350480.1:c.820G>A, XM_017000069.2:c.820G>A, XM_017000069.1:c.820G>A, NM_001350478.2:c.820G>A, NM_001350478.1:c.820G>A, NM_001350484.2:c.817G>A, NM_001350484.1:c.817G>A, NM_001350475.2:c.820G>A, NM_001350475.1:c.820G>A, NM_001350481.2:c.820G>A, NM_001350481.1:c.820G>A, XM_011540515.2:c.817G>A, XM_011540515.1:c.817G>A, XM_011540510.2:c.820G>A, XM_011540510.1:c.820G>A, NM_001350482.2:c.817G>A, NM_001350482.1:c.817G>A, NM_001330502.2:c.817G>A, NM_001330502.1:c.817G>A, NM_001350476.2:c.820G>A, NM_001350476.1:c.820G>A, NM_001350483.2:c.817G>A, NM_001350483.1:c.817G>A, NM_001105530.2:c.820G>A, NM_001105530.1:c.820G>A, NM_001350485.2:c.817G>A, NM_001350485.1:c.817G>A, XM_047431628.1:c.817G>A, XM_047431636.1:c.817G>A, XM_047431580.1:c.817G>A, XM_047431489.1:c.820G>A, XM_047431520.1:c.817G>A, XM_047431420.1:c.820G>A, XM_047431616.1:c.817G>A, XM_047431603.1:c.817G>A, NP_006358.2:p.Val274Ile, NP_001337406.2:p.Val274Ile, NP_001337408.2:p.Val274Ile, NP_001337409.2:p.Val274Ile, XP_016855558.1:p.Val274Ile, NP_001337407.2:p.Val274Ile, NP_001337413.2:p.Val273Ile, NP_001337404.2:p.Val274Ile, NP_001337410.2:p.Val274Ile, XP_011538817.1:p.Val273Ile, XP_011538812.1:p.Val274Ile, NP_001337411.2:p.Val273Ile, NP_001317431.2:p.Val273Ile, NP_001337405.2:p.Val274Ile, NP_001337412.2:p.Val273Ile, NP_001099000.2:p.Val274Ile, NP_001337414.2:p.Val273Ile, XP_047287584.1:p.Val273Ile, XP_047287592.1:p.Val273Ile, XP_047287536.1:p.Val273Ile, XP_047287445.1:p.Val274Ile, XP_047287476.1:p.Val273Ile, XP_047287376.1:p.Val274Ile, XP_047287572.1:p.Val273Ile, XP_047287559.1:p.Val273Ile

                              15.

                              rs1464428201 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:40070206 (GRCh38)
                                1:40535878 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:40070205:G:A
                                Gene:
                                CAP1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_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_000001.11:g.40070206G>A, NC_000001.10:g.40535878G>A, NG_082036.1:g.468G>A, NM_006367.4:c.1041G>A, NM_006367.3:c.1041G>A, NM_001350477.3:c.1041G>A, NM_001350477.2:c.1041G>A, NM_001350477.1:c.1041G>A, NM_001350479.2:c.1041G>A, NM_001350479.1:c.1041G>A, NM_001350480.2:c.1041G>A, NM_001350480.1:c.1041G>A, XM_017000069.2:c.1041G>A, XM_017000069.1:c.1041G>A, NM_001350478.2:c.1041G>A, NM_001350478.1:c.1041G>A, NM_001350484.2:c.1038G>A, NM_001350484.1:c.1038G>A, NM_001350475.2:c.1041G>A, NM_001350475.1:c.1041G>A, NM_001350481.2:c.1041G>A, NM_001350481.1:c.1041G>A, XM_011540515.2:c.1038G>A, XM_011540515.1:c.1038G>A, XM_011540510.2:c.1041G>A, XM_011540510.1:c.1041G>A, NM_001350482.2:c.1038G>A, NM_001350482.1:c.1038G>A, NM_001330502.2:c.1038G>A, NM_001330502.1:c.1038G>A, NM_001350476.2:c.1041G>A, NM_001350476.1:c.1041G>A, NM_001350483.2:c.1038G>A, NM_001350483.1:c.1038G>A, NM_001105530.2:c.1041G>A, NM_001105530.1:c.1041G>A, NM_001350485.2:c.1038G>A, NM_001350485.1:c.1038G>A, XM_047431628.1:c.1038G>A, XM_047431636.1:c.1038G>A, XM_047431580.1:c.1038G>A, XM_047431489.1:c.1041G>A, XM_047431520.1:c.1038G>A, XM_047431420.1:c.1041G>A, XM_047431616.1:c.1038G>A, XM_047431603.1:c.1038G>A

                                16.

                                rs1459998042 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:40070255 (GRCh38)
                                  1:40535927 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:40070254:A:G
                                  Gene:
                                  CAP1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.40070255A>G, NC_000001.10:g.40535927A>G, NG_082036.1:g.517A>G, NM_006367.4:c.1090A>G, NM_006367.3:c.1090A>G, NM_001350477.3:c.1090A>G, NM_001350477.2:c.1090A>G, NM_001350477.1:c.1090A>G, NM_001350479.2:c.1090A>G, NM_001350479.1:c.1090A>G, NM_001350480.2:c.1090A>G, NM_001350480.1:c.1090A>G, XM_017000069.2:c.1090A>G, XM_017000069.1:c.1090A>G, NM_001350478.2:c.1090A>G, NM_001350478.1:c.1090A>G, NM_001350484.2:c.1087A>G, NM_001350484.1:c.1087A>G, NM_001350475.2:c.1090A>G, NM_001350475.1:c.1090A>G, NM_001350481.2:c.1090A>G, NM_001350481.1:c.1090A>G, XM_011540515.2:c.1087A>G, XM_011540515.1:c.1087A>G, XM_011540510.2:c.1090A>G, XM_011540510.1:c.1090A>G, NM_001350482.2:c.1087A>G, NM_001350482.1:c.1087A>G, NM_001330502.2:c.1087A>G, NM_001330502.1:c.1087A>G, NM_001350476.2:c.1090A>G, NM_001350476.1:c.1090A>G, NM_001350483.2:c.1087A>G, NM_001350483.1:c.1087A>G, NM_001105530.2:c.1090A>G, NM_001105530.1:c.1090A>G, NM_001350485.2:c.1087A>G, NM_001350485.1:c.1087A>G, XM_047431628.1:c.1087A>G, XM_047431636.1:c.1087A>G, XM_047431580.1:c.1087A>G, XM_047431489.1:c.1090A>G, XM_047431520.1:c.1087A>G, XM_047431420.1:c.1090A>G, XM_047431616.1:c.1087A>G, XM_047431603.1:c.1087A>G, NP_006358.2:p.Lys364Glu, NP_001337406.2:p.Lys364Glu, NP_001337408.2:p.Lys364Glu, NP_001337409.2:p.Lys364Glu, XP_016855558.1:p.Lys364Glu, NP_001337407.2:p.Lys364Glu, NP_001337413.2:p.Lys363Glu, NP_001337404.2:p.Lys364Glu, NP_001337410.2:p.Lys364Glu, XP_011538817.1:p.Lys363Glu, XP_011538812.1:p.Lys364Glu, NP_001337411.2:p.Lys363Glu, NP_001317431.2:p.Lys363Glu, NP_001337405.2:p.Lys364Glu, NP_001337412.2:p.Lys363Glu, NP_001099000.2:p.Lys364Glu, NP_001337414.2:p.Lys363Glu, XP_047287584.1:p.Lys363Glu, XP_047287592.1:p.Lys363Glu, XP_047287536.1:p.Lys363Glu, XP_047287445.1:p.Lys364Glu, XP_047287476.1:p.Lys363Glu, XP_047287376.1:p.Lys364Glu, XP_047287572.1:p.Lys363Glu, XP_047287559.1:p.Lys363Glu

                                  17.

                                  rs1458125045 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:40067713 (GRCh38)
                                    1:40533385 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:40067712:A:C
                                    Gene:
                                    CAP1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.40067713A>C, NC_000001.10:g.40533385A>C, NM_006367.4:c.804A>C, NM_006367.3:c.804A>C, NM_001350477.3:c.804A>C, NM_001350477.2:c.804A>C, NM_001350477.1:c.804A>C, NM_001350479.2:c.804A>C, NM_001350479.1:c.804A>C, NM_001350480.2:c.804A>C, NM_001350480.1:c.804A>C, XM_017000069.2:c.804A>C, XM_017000069.1:c.804A>C, NM_001350478.2:c.804A>C, NM_001350478.1:c.804A>C, NM_001350484.2:c.801A>C, NM_001350484.1:c.801A>C, NM_001350475.2:c.804A>C, NM_001350475.1:c.804A>C, NM_001350481.2:c.804A>C, NM_001350481.1:c.804A>C, XM_011540515.2:c.801A>C, XM_011540515.1:c.801A>C, XM_011540510.2:c.804A>C, XM_011540510.1:c.804A>C, NM_001350482.2:c.801A>C, NM_001350482.1:c.801A>C, NM_001330502.2:c.801A>C, NM_001330502.1:c.801A>C, NM_001350476.2:c.804A>C, NM_001350476.1:c.804A>C, NM_001350483.2:c.801A>C, NM_001350483.1:c.801A>C, NM_001105530.2:c.804A>C, NM_001105530.1:c.804A>C, NM_001350485.2:c.801A>C, NM_001350485.1:c.801A>C, XM_047431628.1:c.801A>C, XM_047431636.1:c.801A>C, XM_047431580.1:c.801A>C, XM_047431489.1:c.804A>C, XM_047431520.1:c.801A>C, XM_047431420.1:c.804A>C, XM_047431616.1:c.801A>C, XM_047431603.1:c.801A>C

                                    18.

                                    rs1456775673 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:40061743 (GRCh38)
                                      1:40527415 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:40061742:G:A
                                      Gene:
                                      CAP1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_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_000001.11:g.40061743G>A, NC_000001.10:g.40527415G>A, NM_006367.4:c.225G>A, NM_006367.3:c.225G>A, NM_001350477.3:c.225G>A, NM_001350477.2:c.225G>A, NM_001350477.1:c.225G>A, NM_001350479.2:c.225G>A, NM_001350479.1:c.225G>A, NM_001350480.2:c.225G>A, NM_001350480.1:c.225G>A, XM_017000069.2:c.225G>A, XM_017000069.1:c.225G>A, NM_001350478.2:c.225G>A, NM_001350478.1:c.225G>A, NM_001350484.2:c.222G>A, NM_001350484.1:c.222G>A, NM_001350475.2:c.225G>A, NM_001350475.1:c.225G>A, NM_001350481.2:c.225G>A, NM_001350481.1:c.225G>A, XM_011540515.2:c.222G>A, XM_011540515.1:c.222G>A, XM_011540510.2:c.225G>A, XM_011540510.1:c.225G>A, NM_001350482.2:c.222G>A, NM_001350482.1:c.222G>A, NM_001330502.2:c.222G>A, NM_001330502.1:c.222G>A, NM_001350476.2:c.225G>A, NM_001350476.1:c.225G>A, NM_001350483.2:c.222G>A, NM_001350483.1:c.222G>A, NM_001105530.2:c.225G>A, NM_001105530.1:c.225G>A, NM_001350485.2:c.222G>A, NM_001350485.1:c.222G>A, XM_047431628.1:c.222G>A, XM_047431636.1:c.222G>A, XM_047431580.1:c.222G>A, XM_047431489.1:c.225G>A, XM_047431520.1:c.222G>A, XM_047431420.1:c.225G>A, XM_047431616.1:c.222G>A, XM_047431603.1:c.222G>A, NP_006358.2:p.Met75Ile, NP_001337406.2:p.Met75Ile, NP_001337408.2:p.Met75Ile, NP_001337409.2:p.Met75Ile, XP_016855558.1:p.Met75Ile, NP_001337407.2:p.Met75Ile, NP_001337413.2:p.Met74Ile, NP_001337404.2:p.Met75Ile, NP_001337410.2:p.Met75Ile, XP_011538817.1:p.Met74Ile, XP_011538812.1:p.Met75Ile, NP_001337411.2:p.Met74Ile, NP_001317431.2:p.Met74Ile, NP_001337405.2:p.Met75Ile, NP_001337412.2:p.Met74Ile, NP_001099000.2:p.Met75Ile, NP_001337414.2:p.Met74Ile, XP_047287584.1:p.Met74Ile, XP_047287592.1:p.Met74Ile, XP_047287536.1:p.Met74Ile, XP_047287445.1:p.Met75Ile, XP_047287476.1:p.Met74Ile, XP_047287376.1:p.Met75Ile, XP_047287572.1:p.Met74Ile, XP_047287559.1:p.Met74Ile

                                      19.

                                      rs1455556026 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:40067669 (GRCh38)
                                        1:40533341 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:40067668:C:T
                                        Gene:
                                        CAP1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000061/1 (ALFA)
                                        T=0.000014/2 (GnomAD)
                                        T=0.000023/6 (TOPMED)
                                        T=0.000223/1 (Estonian)
                                        HGVS:
                                        NC_000001.11:g.40067669C>T, NC_000001.10:g.40533341C>T, NM_006367.4:c.760C>T, NM_006367.3:c.760C>T, NM_001350477.3:c.760C>T, NM_001350477.2:c.760C>T, NM_001350477.1:c.760C>T, NM_001350479.2:c.760C>T, NM_001350479.1:c.760C>T, NM_001350480.2:c.760C>T, NM_001350480.1:c.760C>T, XM_017000069.2:c.760C>T, XM_017000069.1:c.760C>T, NM_001350478.2:c.760C>T, NM_001350478.1:c.760C>T, NM_001350484.2:c.757C>T, NM_001350484.1:c.757C>T, NM_001350475.2:c.760C>T, NM_001350475.1:c.760C>T, NM_001350481.2:c.760C>T, NM_001350481.1:c.760C>T, XM_011540515.2:c.757C>T, XM_011540515.1:c.757C>T, XM_011540510.2:c.760C>T, XM_011540510.1:c.760C>T, NM_001350482.2:c.757C>T, NM_001350482.1:c.757C>T, NM_001330502.2:c.757C>T, NM_001330502.1:c.757C>T, NM_001350476.2:c.760C>T, NM_001350476.1:c.760C>T, NM_001350483.2:c.757C>T, NM_001350483.1:c.757C>T, NM_001105530.2:c.760C>T, NM_001105530.1:c.760C>T, NM_001350485.2:c.757C>T, NM_001350485.1:c.757C>T, XM_047431628.1:c.757C>T, XM_047431636.1:c.757C>T, XM_047431580.1:c.757C>T, XM_047431489.1:c.760C>T, XM_047431520.1:c.757C>T, XM_047431420.1:c.760C>T, XM_047431616.1:c.757C>T, XM_047431603.1:c.757C>T, NP_006358.2:p.Arg254Cys, NP_001337406.2:p.Arg254Cys, NP_001337408.2:p.Arg254Cys, NP_001337409.2:p.Arg254Cys, XP_016855558.1:p.Arg254Cys, NP_001337407.2:p.Arg254Cys, NP_001337413.2:p.Arg253Cys, NP_001337404.2:p.Arg254Cys, NP_001337410.2:p.Arg254Cys, XP_011538817.1:p.Arg253Cys, XP_011538812.1:p.Arg254Cys, NP_001337411.2:p.Arg253Cys, NP_001317431.2:p.Arg253Cys, NP_001337405.2:p.Arg254Cys, NP_001337412.2:p.Arg253Cys, NP_001099000.2:p.Arg254Cys, NP_001337414.2:p.Arg253Cys, XP_047287584.1:p.Arg253Cys, XP_047287592.1:p.Arg253Cys, XP_047287536.1:p.Arg253Cys, XP_047287445.1:p.Arg254Cys, XP_047287476.1:p.Arg253Cys, XP_047287376.1:p.Arg254Cys, XP_047287572.1:p.Arg253Cys, XP_047287559.1:p.Arg253Cys

                                        20.

                                        rs1454244116 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          1:40061761 (GRCh38)
                                          1:40527433 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:40061760:G:A,NC_000001.11:40061760:G:T
                                          Gene:
                                          CAP1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.00005/1 (ALFA)
                                          HGVS:
                                          NC_000001.11:g.40061761G>A, NC_000001.11:g.40061761G>T, NC_000001.10:g.40527433G>A, NC_000001.10:g.40527433G>T, NM_006367.4:c.243G>A, NM_006367.4:c.243G>T, NM_006367.3:c.243G>A, NM_006367.3:c.243G>T, NM_001350477.3:c.243G>A, NM_001350477.3:c.243G>T, NM_001350477.2:c.243G>A, NM_001350477.2:c.243G>T, NM_001350477.1:c.243G>A, NM_001350477.1:c.243G>T, NM_001350479.2:c.243G>A, NM_001350479.2:c.243G>T, NM_001350479.1:c.243G>A, NM_001350479.1:c.243G>T, NM_001350480.2:c.243G>A, NM_001350480.2:c.243G>T, NM_001350480.1:c.243G>A, NM_001350480.1:c.243G>T, XM_017000069.2:c.243G>A, XM_017000069.2:c.243G>T, XM_017000069.1:c.243G>A, XM_017000069.1:c.243G>T, NM_001350478.2:c.243G>A, NM_001350478.2:c.243G>T, NM_001350478.1:c.243G>A, NM_001350478.1:c.243G>T, NM_001350484.2:c.240G>A, NM_001350484.2:c.240G>T, NM_001350484.1:c.240G>A, NM_001350484.1:c.240G>T, NM_001350475.2:c.243G>A, NM_001350475.2:c.243G>T, NM_001350475.1:c.243G>A, NM_001350475.1:c.243G>T, NM_001350481.2:c.243G>A, NM_001350481.2:c.243G>T, NM_001350481.1:c.243G>A, NM_001350481.1:c.243G>T, XM_011540515.2:c.240G>A, XM_011540515.2:c.240G>T, XM_011540515.1:c.240G>A, XM_011540515.1:c.240G>T, XM_011540510.2:c.243G>A, XM_011540510.2:c.243G>T, XM_011540510.1:c.243G>A, XM_011540510.1:c.243G>T, NM_001350482.2:c.240G>A, NM_001350482.2:c.240G>T, NM_001350482.1:c.240G>A, NM_001350482.1:c.240G>T, NM_001330502.2:c.240G>A, NM_001330502.2:c.240G>T, NM_001330502.1:c.240G>A, NM_001330502.1:c.240G>T, NM_001350476.2:c.243G>A, NM_001350476.2:c.243G>T, NM_001350476.1:c.243G>A, NM_001350476.1:c.243G>T, NM_001350483.2:c.240G>A, NM_001350483.2:c.240G>T, NM_001350483.1:c.240G>A, NM_001350483.1:c.240G>T, NM_001105530.2:c.243G>A, NM_001105530.2:c.243G>T, NM_001105530.1:c.243G>A, NM_001105530.1:c.243G>T, NM_001350485.2:c.240G>A, NM_001350485.2:c.240G>T, NM_001350485.1:c.240G>A, NM_001350485.1:c.240G>T, XM_047431628.1:c.240G>A, XM_047431628.1:c.240G>T, XM_047431636.1:c.240G>A, XM_047431636.1:c.240G>T, XM_047431580.1:c.240G>A, XM_047431580.1:c.240G>T, XM_047431489.1:c.243G>A, XM_047431489.1:c.243G>T, XM_047431520.1:c.240G>A, XM_047431520.1:c.240G>T, XM_047431420.1:c.243G>A, XM_047431420.1:c.243G>T, XM_047431616.1:c.240G>A, XM_047431616.1:c.240G>T, XM_047431603.1:c.240G>A, XM_047431603.1:c.240G>T, NP_006358.2:p.Lys81Asn, NP_001337406.2:p.Lys81Asn, NP_001337408.2:p.Lys81Asn, NP_001337409.2:p.Lys81Asn, XP_016855558.1:p.Lys81Asn, NP_001337407.2:p.Lys81Asn, NP_001337413.2:p.Lys80Asn, NP_001337404.2:p.Lys81Asn, NP_001337410.2:p.Lys81Asn, XP_011538817.1:p.Lys80Asn, XP_011538812.1:p.Lys81Asn, NP_001337411.2:p.Lys80Asn, NP_001317431.2:p.Lys80Asn, NP_001337405.2:p.Lys81Asn, NP_001337412.2:p.Lys80Asn, NP_001099000.2:p.Lys81Asn, NP_001337414.2:p.Lys80Asn, XP_047287584.1:p.Lys80Asn, XP_047287592.1:p.Lys80Asn, XP_047287536.1:p.Lys80Asn, XP_047287445.1:p.Lys81Asn, XP_047287476.1:p.Lys80Asn, XP_047287376.1:p.Lys81Asn, XP_047287572.1:p.Lys80Asn, XP_047287559.1:p.Lys80Asn

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