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Items: 1 to 20 of 1223

1.

rs1490838589 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    9:83859360 (GRCh38)
    9:86474275 (GRCh37)
    Canonical SPDI:
    NC_000009.12:83859359:T:G
    Gene:
    KIF27 (Varview), LOC124900638 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.83859360T>G, NC_000009.11:g.86474275T>G, XM_011518848.4:c.3024A>C, XM_011518848.3:c.3024A>C, XM_011518848.2:c.3024A>C, XM_011518848.1:c.3024A>C, NM_017576.4:c.2946A>C, NM_017576.3:c.2946A>C, NM_017576.2:c.2946A>C, XM_011518850.3:c.3024A>C, XM_011518850.2:c.3024A>C, XM_011518850.1:c.3024A>C, XM_017014901.3:c.3024A>C, XM_017014901.2:c.3024A>C, XM_017014901.1:c.3024A>C, XM_011518849.3:c.3024A>C, XM_011518849.2:c.3024A>C, XM_011518849.1:c.3024A>C, NM_001271927.3:c.2748A>C, NM_001271927.2:c.2748A>C, NM_001271927.1:c.2748A>C, NM_001271928.3:c.2655A>C, NM_001271928.2:c.2655A>C, NM_001271928.1:c.2655A>C, XM_011518857.3:c.1950A>C, XM_011518857.2:c.1950A>C, XM_011518857.1:c.1950A>C, XM_011518856.3:c.3024A>C, XM_011518856.2:c.3024A>C, XM_011518856.1:c.3024A>C, XM_017014903.2:c.2946A>C, XM_017014903.1:c.2946A>C, XM_017014905.2:c.2826A>C, XM_017014905.1:c.2826A>C, XM_017014902.2:c.3024A>C, XM_017014902.1:c.3024A>C, XM_017014900.2:c.3024A>C, XM_017014900.1:c.3024A>C, XM_017014904.2:c.2946A>C, XM_017014904.1:c.2946A>C, XM_017014909.2:c.2568A>C, XM_017014909.1:c.2568A>C, NM_001354070.2:c.1506A>C, NM_001354070.1:c.1506A>C, XM_047423580.1:c.2571A>C, XM_047423570.1:c.3024A>C, XM_047423572.1:c.2946A>C, XM_047423573.1:c.2946A>C, XM_047423575.1:c.2946A>C, XM_047423571.1:c.3024A>C, XM_047423582.1:c.1119A>C, XM_047423574.1:c.2946A>C, XM_047423577.1:c.2655A>C, XM_047423579.1:c.1584A>C

    2.

    rs1489988620 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:83837432 (GRCh38)
      9:86452347 (GRCh37)
      Canonical SPDI:
      NC_000009.12:83837431:C:T
      Gene:
      KIF27 (Varview), LOC101927552 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.83837432C>T, NC_000009.11:g.86452347C>T, XM_011518848.4:c.3853G>A, XM_011518848.3:c.3853G>A, XM_011518848.2:c.3853G>A, XM_011518848.1:c.3853G>A, NM_017576.4:c.3775G>A, NM_017576.3:c.3775G>A, NM_017576.2:c.3775G>A, XM_011518850.3:c.3853G>A, XM_011518850.2:c.3853G>A, XM_011518850.1:c.3853G>A, XM_011518854.3:c.3460G>A, XM_011518854.2:c.3460G>A, XM_011518854.1:c.3460G>A, XM_017014901.3:c.3853G>A, XM_017014901.2:c.3853G>A, XM_017014901.1:c.3853G>A, XM_011518849.3:c.3853G>A, XM_011518849.2:c.3853G>A, XM_011518849.1:c.3853G>A, NM_001271927.3:c.3577G>A, NM_001271927.2:c.3577G>A, NM_001271927.1:c.3577G>A, NM_001271928.3:c.3484G>A, NM_001271928.2:c.3484G>A, NM_001271928.1:c.3484G>A, XM_011518857.3:c.2779G>A, XM_011518857.2:c.2779G>A, XM_011518857.1:c.2779G>A, XR_001746791.3:n.3270C>T, XM_017014903.2:c.3775G>A, XM_017014903.1:c.3775G>A, XM_017014905.2:c.3655G>A, XM_017014905.1:c.3655G>A, XM_017014902.2:c.3853G>A, XM_017014902.1:c.3853G>A, XM_017014906.2:c.3637G>A, XM_017014906.1:c.3637G>A, XM_017014900.2:c.3853G>A, XM_017014900.1:c.3853G>A, XM_017014904.2:c.3775G>A, XM_017014904.1:c.3775G>A, XM_017014909.2:c.3397G>A, XM_017014909.1:c.3397G>A, NM_001354069.2:c.3382G>A, NM_001354069.1:c.3382G>A, NM_001354070.2:c.2335G>A, NM_001354070.1:c.2335G>A, NM_001354071.2:c.2119G>A, NM_001354071.1:c.2119G>A, XR_001746789.2:n.3379C>T, XR_001746790.2:n.3293C>T, XR_001746785.2:n.3184C>T, XR_001746784.2:n.2830C>T, XR_001746793.2:n.2795C>T, XR_002956861.2:n.2662C>T, XR_001746788.2:n.2313C>T, XR_001746794.2:n.2038C>T, XR_001746795.2:n.1598C>T, XM_047423570.1:c.3853G>A, XM_047423572.1:c.3775G>A, XM_047423573.1:c.3775G>A, XM_047423575.1:c.3775G>A, XM_047423571.1:c.3853G>A, XM_047423582.1:c.1948G>A, XM_047423574.1:c.3775G>A, XM_047423576.1:c.3559G>A, XM_047423577.1:c.3484G>A, XM_047423578.1:c.3184G>A, XM_047423579.1:c.2413G>A, XR_007061618.1:n.2405C>T, XR_007061619.1:n.1292C>T, XP_011517150.1:p.Glu1285Lys, NP_060046.1:p.Glu1259Lys, XP_011517152.1:p.Glu1285Lys, XP_011517156.1:p.Glu1154Lys, XP_016870390.1:p.Glu1285Lys, XP_011517151.1:p.Glu1285Lys, NP_001258856.1:p.Glu1193Lys, NP_001258857.1:p.Glu1162Lys, XP_011517159.1:p.Glu927Lys, XP_016870392.1:p.Glu1259Lys, XP_016870394.1:p.Glu1219Lys, XP_016870391.1:p.Glu1285Lys, XP_016870395.1:p.Glu1213Lys, XP_016870389.1:p.Glu1285Lys, XP_016870393.1:p.Glu1259Lys, XP_016870398.1:p.Glu1133Lys, NP_001340998.1:p.Glu1128Lys, NP_001340999.1:p.Glu779Lys, NP_001341000.1:p.Glu707Lys, XP_047279526.1:p.Glu1285Lys, XP_047279528.1:p.Glu1259Lys, XP_047279529.1:p.Glu1259Lys, XP_047279531.1:p.Glu1259Lys, XP_047279527.1:p.Glu1285Lys, XP_047279538.1:p.Glu650Lys, XP_047279530.1:p.Glu1259Lys, XP_047279532.1:p.Glu1187Lys, XP_047279533.1:p.Glu1162Lys, XP_047279534.1:p.Glu1062Lys, XP_047279535.1:p.Glu805Lys

      3.

      rs1489293415 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:83837004 (GRCh38)
        9:86451919 (GRCh37)
        Canonical SPDI:
        NC_000009.12:83837003:A:G
        Gene:
        KIF27 (Varview), LOC101927552 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.83837004A>G, NC_000009.11:g.86451919A>G, XM_011518848.4:c.4281T>C, XM_011518848.3:c.4281T>C, XM_011518848.2:c.4281T>C, XM_011518848.1:c.4281T>C, NM_017576.4:c.4203T>C, NM_017576.3:c.4203T>C, NM_017576.2:c.4203T>C, XM_011518850.3:c.4281T>C, XM_011518850.2:c.4281T>C, XM_011518850.1:c.4281T>C, XM_011518854.3:c.3888T>C, XM_011518854.2:c.3888T>C, XM_011518854.1:c.3888T>C, XM_017014901.3:c.4281T>C, XM_017014901.2:c.4281T>C, XM_017014901.1:c.4281T>C, XM_011518849.3:c.4281T>C, XM_011518849.2:c.4281T>C, XM_011518849.1:c.4281T>C, NM_001271927.3:c.4005T>C, NM_001271927.2:c.4005T>C, NM_001271927.1:c.4005T>C, NM_001271928.3:c.3912T>C, NM_001271928.2:c.3912T>C, NM_001271928.1:c.3912T>C, XM_011518857.3:c.3207T>C, XM_011518857.2:c.3207T>C, XM_011518857.1:c.3207T>C, XM_017014903.2:c.4203T>C, XM_017014903.1:c.4203T>C, XM_017014905.2:c.4083T>C, XM_017014905.1:c.4083T>C, XM_017014902.2:c.4281T>C, XM_017014902.1:c.4281T>C, XM_017014906.2:c.4065T>C, XM_017014906.1:c.4065T>C, XM_017014900.2:c.4281T>C, XM_017014900.1:c.4281T>C, XM_017014904.2:c.4203T>C, XM_017014904.1:c.4203T>C, XM_017014909.2:c.3825T>C, XM_017014909.1:c.3825T>C, NM_001354069.2:c.3810T>C, NM_001354069.1:c.3810T>C, NM_001354070.2:c.2763T>C, NM_001354070.1:c.2763T>C, NM_001354071.2:c.2547T>C, NM_001354071.1:c.2547T>C, XM_047423570.1:c.4281T>C, XM_047423572.1:c.4203T>C, XM_047423573.1:c.4203T>C, XM_047423575.1:c.4203T>C, XM_047423571.1:c.4281T>C, XM_047423582.1:c.2376T>C, XM_047423574.1:c.4203T>C, XM_047423576.1:c.3987T>C, XM_047423577.1:c.3912T>C, XM_047423578.1:c.3612T>C, XM_047423579.1:c.2841T>C

        4.

        rs1487527130 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          9:83889093 (GRCh38)
          9:86504008 (GRCh37)
          Canonical SPDI:
          NC_000009.12:83889092:G:T
          Gene:
          KIF27 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000028/1 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          NC_000009.12:g.83889093G>T, NC_000009.11:g.86504008G>T, XM_011518848.4:c.2048C>A, XM_011518848.3:c.2048C>A, XM_011518848.2:c.2048C>A, XM_011518848.1:c.2048C>A, NM_017576.4:c.1970C>A, NM_017576.3:c.1970C>A, NM_017576.2:c.1970C>A, XM_011518850.3:c.2048C>A, XM_011518850.2:c.2048C>A, XM_011518850.1:c.2048C>A, XM_011518854.3:c.2048C>A, XM_011518854.2:c.2048C>A, XM_011518854.1:c.2048C>A, XM_017014901.3:c.2048C>A, XM_017014901.2:c.2048C>A, XM_017014901.1:c.2048C>A, XM_011518849.3:c.2048C>A, XM_011518849.2:c.2048C>A, XM_011518849.1:c.2048C>A, NM_001271927.3:c.1970C>A, NM_001271927.2:c.1970C>A, NM_001271927.1:c.1970C>A, NM_001271928.3:c.1970C>A, NM_001271928.2:c.1970C>A, NM_001271928.1:c.1970C>A, XM_011518857.3:c.974C>A, XM_011518857.2:c.974C>A, XM_011518857.1:c.974C>A, XM_011518856.3:c.2048C>A, XM_011518856.2:c.2048C>A, XM_011518856.1:c.2048C>A, XM_017014914.3:c.1970C>A, XM_017014914.2:c.1970C>A, XM_017014914.1:c.1970C>A, XM_017014903.2:c.1970C>A, XM_017014903.1:c.1970C>A, XM_017014905.2:c.2048C>A, XM_017014905.1:c.2048C>A, XM_017014902.2:c.2048C>A, XM_017014902.1:c.2048C>A, XM_017014906.2:c.2048C>A, XM_017014906.1:c.2048C>A, XM_017014900.2:c.2048C>A, XM_017014900.1:c.2048C>A, XM_017014904.2:c.1970C>A, XM_017014904.1:c.1970C>A, XM_017014909.2:c.1592C>A, XM_017014909.1:c.1592C>A, NM_001354069.2:c.1970C>A, NM_001354069.1:c.1970C>A, NM_001354070.2:c.530C>A, NM_001354070.1:c.530C>A, NM_001354071.2:c.530C>A, NM_001354071.1:c.530C>A, XM_047423580.1:c.1970C>A, XM_047423570.1:c.2048C>A, XM_047423572.1:c.1970C>A, XM_047423573.1:c.1970C>A, XM_047423575.1:c.1970C>A, XM_047423571.1:c.2048C>A, XM_047423582.1:c.143C>A, XM_047423574.1:c.1970C>A, XM_047423576.1:c.1970C>A, XM_047423577.1:c.1970C>A, XM_047423578.1:c.1970C>A, XM_047423579.1:c.608C>A, XR_007061328.1:n.2902C>A, XP_011517150.1:p.Ser683Tyr, NP_060046.1:p.Ser657Tyr, XP_011517152.1:p.Ser683Tyr, XP_011517156.1:p.Ser683Tyr, XP_016870390.1:p.Ser683Tyr, XP_011517151.1:p.Ser683Tyr, NP_001258856.1:p.Ser657Tyr, NP_001258857.1:p.Ser657Tyr, XP_011517159.1:p.Ser325Tyr, XP_011517158.1:p.Ser683Tyr, XP_016870403.1:p.Ser657Tyr, XP_016870392.1:p.Ser657Tyr, XP_016870394.1:p.Ser683Tyr, XP_016870391.1:p.Ser683Tyr, XP_016870395.1:p.Ser683Tyr, XP_016870389.1:p.Ser683Tyr, XP_016870393.1:p.Ser657Tyr, XP_016870398.1:p.Ser531Tyr, NP_001340998.1:p.Ser657Tyr, NP_001340999.1:p.Ser177Tyr, NP_001341000.1:p.Ser177Tyr, XP_047279536.1:p.Ser657Tyr, XP_047279526.1:p.Ser683Tyr, XP_047279528.1:p.Ser657Tyr, XP_047279529.1:p.Ser657Tyr, XP_047279531.1:p.Ser657Tyr, XP_047279527.1:p.Ser683Tyr, XP_047279538.1:p.Ser48Tyr, XP_047279530.1:p.Ser657Tyr, XP_047279532.1:p.Ser657Tyr, XP_047279533.1:p.Ser657Tyr, XP_047279534.1:p.Ser657Tyr, XP_047279535.1:p.Ser203Tyr

          5.

          rs1487116477 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:83915351 (GRCh38)
            9:86530266 (GRCh37)
            Canonical SPDI:
            NC_000009.12:83915350:A:G
            Gene:
            KIF27 (Varview)
            Functional Consequence:
            missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.83915351A>G, NC_000009.11:g.86530266A>G, XM_011518848.4:c.241T>C, XM_011518848.3:c.241T>C, XM_011518848.2:c.241T>C, XM_011518848.1:c.241T>C, NM_017576.4:c.241T>C, NM_017576.3:c.241T>C, NM_017576.2:c.241T>C, XM_011518850.3:c.241T>C, XM_011518850.2:c.241T>C, XM_011518850.1:c.241T>C, XM_011518854.3:c.241T>C, XM_011518854.2:c.241T>C, XM_011518854.1:c.241T>C, XM_017014901.3:c.241T>C, XM_017014901.2:c.241T>C, XM_017014901.1:c.241T>C, XM_011518849.3:c.241T>C, XM_011518849.2:c.241T>C, XM_011518849.1:c.241T>C, NM_001271927.3:c.241T>C, NM_001271927.2:c.241T>C, NM_001271927.1:c.241T>C, NM_001271928.3:c.241T>C, NM_001271928.2:c.241T>C, NM_001271928.1:c.241T>C, XM_011518856.3:c.241T>C, XM_011518856.2:c.241T>C, XM_011518856.1:c.241T>C, XM_017014914.3:c.241T>C, XM_017014914.2:c.241T>C, XM_017014914.1:c.241T>C, XM_017014903.2:c.241T>C, XM_017014903.1:c.241T>C, XM_017014905.2:c.241T>C, XM_017014905.1:c.241T>C, XM_017014902.2:c.241T>C, XM_017014902.1:c.241T>C, XM_017014906.2:c.241T>C, XM_017014906.1:c.241T>C, XM_017014900.2:c.241T>C, XM_017014900.1:c.241T>C, XM_017014904.2:c.241T>C, XM_017014904.1:c.241T>C, NM_001354069.2:c.241T>C, NM_001354069.1:c.241T>C, NM_001354070.2:c.-433T>C, NM_001354070.1:c.-433T>C, NM_001354071.2:c.-241T>C, NM_001354071.1:c.-241T>C, XM_047423580.1:c.241T>C, XM_047423570.1:c.241T>C, XM_047423572.1:c.241T>C, XM_047423573.1:c.241T>C, XM_047423575.1:c.241T>C, XM_047423571.1:c.241T>C, XM_047423574.1:c.241T>C, XM_047423576.1:c.241T>C, XM_047423577.1:c.241T>C, XM_047423578.1:c.241T>C, XR_007061328.1:n.1095T>C, XP_011517150.1:p.Phe81Leu, NP_060046.1:p.Phe81Leu, XP_011517152.1:p.Phe81Leu, XP_011517156.1:p.Phe81Leu, XP_016870390.1:p.Phe81Leu, XP_011517151.1:p.Phe81Leu, NP_001258856.1:p.Phe81Leu, NP_001258857.1:p.Phe81Leu, XP_011517158.1:p.Phe81Leu, XP_016870403.1:p.Phe81Leu, XP_016870392.1:p.Phe81Leu, XP_016870394.1:p.Phe81Leu, XP_016870391.1:p.Phe81Leu, XP_016870395.1:p.Phe81Leu, XP_016870389.1:p.Phe81Leu, XP_016870393.1:p.Phe81Leu, NP_001340998.1:p.Phe81Leu, XP_047279536.1:p.Phe81Leu, XP_047279526.1:p.Phe81Leu, XP_047279528.1:p.Phe81Leu, XP_047279529.1:p.Phe81Leu, XP_047279531.1:p.Phe81Leu, XP_047279527.1:p.Phe81Leu, XP_047279530.1:p.Phe81Leu, XP_047279532.1:p.Phe81Leu, XP_047279533.1:p.Phe81Leu, XP_047279534.1:p.Phe81Leu

            6.

            rs1486938889 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:83903353 (GRCh38)
              9:86518268 (GRCh37)
              Canonical SPDI:
              NC_000009.12:83903352:G:A
              Gene:
              KIF27 (Varview)
              Functional Consequence:
              intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000009.12:g.83903353G>A, NC_000009.11:g.86518268G>A, XM_011518848.4:c.1165C>T, XM_011518848.3:c.1165C>T, XM_011518848.2:c.1165C>T, XM_011518848.1:c.1165C>T, NM_017576.4:c.1165C>T, NM_017576.3:c.1165C>T, NM_017576.2:c.1165C>T, XM_011518850.3:c.1165C>T, XM_011518850.2:c.1165C>T, XM_011518850.1:c.1165C>T, XM_011518854.3:c.1165C>T, XM_011518854.2:c.1165C>T, XM_011518854.1:c.1165C>T, XM_017014901.3:c.1165C>T, XM_017014901.2:c.1165C>T, XM_017014901.1:c.1165C>T, XM_011518849.3:c.1165C>T, XM_011518849.2:c.1165C>T, XM_011518849.1:c.1165C>T, NM_001271927.3:c.1165C>T, NM_001271927.2:c.1165C>T, NM_001271927.1:c.1165C>T, NM_001271928.3:c.1165C>T, NM_001271928.2:c.1165C>T, NM_001271928.1:c.1165C>T, XM_011518857.3:c.91C>T, XM_011518857.2:c.91C>T, XM_011518857.1:c.91C>T, XM_011518856.3:c.1165C>T, XM_011518856.2:c.1165C>T, XM_011518856.1:c.1165C>T, XM_017014914.3:c.1165C>T, XM_017014914.2:c.1165C>T, XM_017014914.1:c.1165C>T, XM_017014903.2:c.1165C>T, XM_017014903.1:c.1165C>T, XM_017014905.2:c.1165C>T, XM_017014905.1:c.1165C>T, XM_017014902.2:c.1165C>T, XM_017014902.1:c.1165C>T, XM_017014906.2:c.1165C>T, XM_017014906.1:c.1165C>T, XM_017014900.2:c.1165C>T, XM_017014900.1:c.1165C>T, XM_017014904.2:c.1165C>T, XM_017014904.1:c.1165C>T, XM_017014909.2:c.709C>T, XM_017014909.1:c.709C>T, NM_001354069.2:c.1165C>T, NM_001354069.1:c.1165C>T, XM_047423580.1:c.1165C>T, XM_047423570.1:c.1165C>T, XM_047423572.1:c.1165C>T, XM_047423573.1:c.1165C>T, XM_047423575.1:c.1165C>T, XM_047423571.1:c.1165C>T, XM_047423574.1:c.1165C>T, XM_047423576.1:c.1165C>T, XM_047423577.1:c.1165C>T, XM_047423578.1:c.1165C>T, XR_007061328.1:n.2019C>T, XP_011517150.1:p.Pro389Ser, NP_060046.1:p.Pro389Ser, XP_011517152.1:p.Pro389Ser, XP_011517156.1:p.Pro389Ser, XP_016870390.1:p.Pro389Ser, XP_011517151.1:p.Pro389Ser, NP_001258856.1:p.Pro389Ser, NP_001258857.1:p.Pro389Ser, XP_011517159.1:p.Pro31Ser, XP_011517158.1:p.Pro389Ser, XP_016870403.1:p.Pro389Ser, XP_016870392.1:p.Pro389Ser, XP_016870394.1:p.Pro389Ser, XP_016870391.1:p.Pro389Ser, XP_016870395.1:p.Pro389Ser, XP_016870389.1:p.Pro389Ser, XP_016870393.1:p.Pro389Ser, XP_016870398.1:p.Pro237Ser, NP_001340998.1:p.Pro389Ser, XP_047279536.1:p.Pro389Ser, XP_047279526.1:p.Pro389Ser, XP_047279528.1:p.Pro389Ser, XP_047279529.1:p.Pro389Ser, XP_047279531.1:p.Pro389Ser, XP_047279527.1:p.Pro389Ser, XP_047279530.1:p.Pro389Ser, XP_047279532.1:p.Pro389Ser, XP_047279533.1:p.Pro389Ser, XP_047279534.1:p.Pro389Ser

              7.

              rs1486719827 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:83903319 (GRCh38)
                9:86518234 (GRCh37)
                Canonical SPDI:
                NC_000009.12:83903318:T:C
                Gene:
                KIF27 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.83903319T>C, NC_000009.11:g.86518234T>C, XM_011518848.4:c.1199A>G, XM_011518848.3:c.1199A>G, XM_011518848.2:c.1199A>G, XM_011518848.1:c.1199A>G, NM_017576.4:c.1199A>G, NM_017576.3:c.1199A>G, NM_017576.2:c.1199A>G, XM_011518850.3:c.1199A>G, XM_011518850.2:c.1199A>G, XM_011518850.1:c.1199A>G, XM_011518854.3:c.1199A>G, XM_011518854.2:c.1199A>G, XM_011518854.1:c.1199A>G, XM_017014901.3:c.1199A>G, XM_017014901.2:c.1199A>G, XM_017014901.1:c.1199A>G, XM_011518849.3:c.1199A>G, XM_011518849.2:c.1199A>G, XM_011518849.1:c.1199A>G, NM_001271927.3:c.1199A>G, NM_001271927.2:c.1199A>G, NM_001271927.1:c.1199A>G, NM_001271928.3:c.1199A>G, NM_001271928.2:c.1199A>G, NM_001271928.1:c.1199A>G, XM_011518857.3:c.125A>G, XM_011518857.2:c.125A>G, XM_011518857.1:c.125A>G, XM_011518856.3:c.1199A>G, XM_011518856.2:c.1199A>G, XM_011518856.1:c.1199A>G, XM_017014914.3:c.1199A>G, XM_017014914.2:c.1199A>G, XM_017014914.1:c.1199A>G, XM_017014903.2:c.1199A>G, XM_017014903.1:c.1199A>G, XM_017014905.2:c.1199A>G, XM_017014905.1:c.1199A>G, XM_017014902.2:c.1199A>G, XM_017014902.1:c.1199A>G, XM_017014906.2:c.1199A>G, XM_017014906.1:c.1199A>G, XM_017014900.2:c.1199A>G, XM_017014900.1:c.1199A>G, XM_017014904.2:c.1199A>G, XM_017014904.1:c.1199A>G, XM_017014909.2:c.743A>G, XM_017014909.1:c.743A>G, NM_001354069.2:c.1199A>G, NM_001354069.1:c.1199A>G, XM_047423580.1:c.1199A>G, XM_047423570.1:c.1199A>G, XM_047423572.1:c.1199A>G, XM_047423573.1:c.1199A>G, XM_047423575.1:c.1199A>G, XM_047423571.1:c.1199A>G, XM_047423574.1:c.1199A>G, XM_047423576.1:c.1199A>G, XM_047423577.1:c.1199A>G, XM_047423578.1:c.1199A>G, XR_007061328.1:n.2053A>G, XP_011517150.1:p.Gln400Arg, NP_060046.1:p.Gln400Arg, XP_011517152.1:p.Gln400Arg, XP_011517156.1:p.Gln400Arg, XP_016870390.1:p.Gln400Arg, XP_011517151.1:p.Gln400Arg, NP_001258856.1:p.Gln400Arg, NP_001258857.1:p.Gln400Arg, XP_011517159.1:p.Gln42Arg, XP_011517158.1:p.Gln400Arg, XP_016870403.1:p.Gln400Arg, XP_016870392.1:p.Gln400Arg, XP_016870394.1:p.Gln400Arg, XP_016870391.1:p.Gln400Arg, XP_016870395.1:p.Gln400Arg, XP_016870389.1:p.Gln400Arg, XP_016870393.1:p.Gln400Arg, XP_016870398.1:p.Gln248Arg, NP_001340998.1:p.Gln400Arg, XP_047279536.1:p.Gln400Arg, XP_047279526.1:p.Gln400Arg, XP_047279528.1:p.Gln400Arg, XP_047279529.1:p.Gln400Arg, XP_047279531.1:p.Gln400Arg, XP_047279527.1:p.Gln400Arg, XP_047279530.1:p.Gln400Arg, XP_047279532.1:p.Gln400Arg, XP_047279533.1:p.Gln400Arg, XP_047279534.1:p.Gln400Arg

                8.

                rs1486137261 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  9:83887149 (GRCh38)
                  9:86502064 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:83887148:T:G
                  Gene:
                  KIF27 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000009.12:g.83887149T>G, NC_000009.11:g.86502064T>G, XM_011518848.4:c.2209A>C, XM_011518848.3:c.2209A>C, XM_011518848.2:c.2209A>C, XM_011518848.1:c.2209A>C, NM_017576.4:c.2131A>C, NM_017576.3:c.2131A>C, NM_017576.2:c.2131A>C, XM_011518850.3:c.2209A>C, XM_011518850.2:c.2209A>C, XM_011518850.1:c.2209A>C, XM_011518854.3:c.2209A>C, XM_011518854.2:c.2209A>C, XM_011518854.1:c.2209A>C, XM_017014901.3:c.2209A>C, XM_017014901.2:c.2209A>C, XM_017014901.1:c.2209A>C, XM_011518849.3:c.2209A>C, XM_011518849.2:c.2209A>C, XM_011518849.1:c.2209A>C, NM_001271927.3:c.2131A>C, NM_001271927.2:c.2131A>C, NM_001271927.1:c.2131A>C, NM_001271928.3:c.2131A>C, NM_001271928.2:c.2131A>C, NM_001271928.1:c.2131A>C, XM_011518857.3:c.1135A>C, XM_011518857.2:c.1135A>C, XM_011518857.1:c.1135A>C, XM_011518856.3:c.2209A>C, XM_011518856.2:c.2209A>C, XM_011518856.1:c.2209A>C, XM_017014914.3:c.2131A>C, XM_017014914.2:c.2131A>C, XM_017014914.1:c.2131A>C, XM_017014903.2:c.2131A>C, XM_017014903.1:c.2131A>C, XM_017014905.2:c.2209A>C, XM_017014905.1:c.2209A>C, XM_017014902.2:c.2209A>C, XM_017014902.1:c.2209A>C, XM_017014906.2:c.2209A>C, XM_017014906.1:c.2209A>C, XM_017014900.2:c.2209A>C, XM_017014900.1:c.2209A>C, XM_017014904.2:c.2131A>C, XM_017014904.1:c.2131A>C, XM_017014909.2:c.1753A>C, XM_017014909.1:c.1753A>C, NM_001354069.2:c.2131A>C, NM_001354069.1:c.2131A>C, NM_001354070.2:c.691A>C, NM_001354070.1:c.691A>C, NM_001354071.2:c.691A>C, NM_001354071.1:c.691A>C, XM_047423580.1:c.2131A>C, XM_047423570.1:c.2209A>C, XM_047423572.1:c.2131A>C, XM_047423573.1:c.2131A>C, XM_047423575.1:c.2131A>C, XM_047423571.1:c.2209A>C, XM_047423582.1:c.304A>C, XM_047423574.1:c.2131A>C, XM_047423576.1:c.2131A>C, XM_047423577.1:c.2131A>C, XM_047423578.1:c.2131A>C, XM_047423579.1:c.769A>C, XR_007061328.1:n.3063A>C, XP_011517150.1:p.Lys737Gln, NP_060046.1:p.Lys711Gln, XP_011517152.1:p.Lys737Gln, XP_011517156.1:p.Lys737Gln, XP_016870390.1:p.Lys737Gln, XP_011517151.1:p.Lys737Gln, NP_001258856.1:p.Lys711Gln, NP_001258857.1:p.Lys711Gln, XP_011517159.1:p.Lys379Gln, XP_011517158.1:p.Lys737Gln, XP_016870403.1:p.Lys711Gln, XP_016870392.1:p.Lys711Gln, XP_016870394.1:p.Lys737Gln, XP_016870391.1:p.Lys737Gln, XP_016870395.1:p.Lys737Gln, XP_016870389.1:p.Lys737Gln, XP_016870393.1:p.Lys711Gln, XP_016870398.1:p.Lys585Gln, NP_001340998.1:p.Lys711Gln, NP_001340999.1:p.Lys231Gln, NP_001341000.1:p.Lys231Gln, XP_047279536.1:p.Lys711Gln, XP_047279526.1:p.Lys737Gln, XP_047279528.1:p.Lys711Gln, XP_047279529.1:p.Lys711Gln, XP_047279531.1:p.Lys711Gln, XP_047279527.1:p.Lys737Gln, XP_047279538.1:p.Lys102Gln, XP_047279530.1:p.Lys711Gln, XP_047279532.1:p.Lys711Gln, XP_047279533.1:p.Lys711Gln, XP_047279534.1:p.Lys711Gln, XP_047279535.1:p.Lys257Gln

                  9.

                  rs1485982329 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:83899715 (GRCh38)
                    9:86514630 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:83899714:T:C
                    Gene:
                    KIF27 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000009.12:g.83899715T>C, NC_000009.11:g.86514630T>C, XM_011518848.4:c.1548A>G, XM_011518848.3:c.1548A>G, XM_011518848.2:c.1548A>G, XM_011518848.1:c.1548A>G, NM_017576.4:c.1548A>G, NM_017576.3:c.1548A>G, NM_017576.2:c.1548A>G, XM_011518850.3:c.1548A>G, XM_011518850.2:c.1548A>G, XM_011518850.1:c.1548A>G, XM_011518854.3:c.1548A>G, XM_011518854.2:c.1548A>G, XM_011518854.1:c.1548A>G, XM_017014901.3:c.1548A>G, XM_017014901.2:c.1548A>G, XM_017014901.1:c.1548A>G, XM_011518849.3:c.1548A>G, XM_011518849.2:c.1548A>G, XM_011518849.1:c.1548A>G, NM_001271927.3:c.1548A>G, NM_001271927.2:c.1548A>G, NM_001271927.1:c.1548A>G, NM_001271928.3:c.1548A>G, NM_001271928.2:c.1548A>G, NM_001271928.1:c.1548A>G, XM_011518857.3:c.474A>G, XM_011518857.2:c.474A>G, XM_011518857.1:c.474A>G, XM_011518856.3:c.1548A>G, XM_011518856.2:c.1548A>G, XM_011518856.1:c.1548A>G, XM_017014914.3:c.1548A>G, XM_017014914.2:c.1548A>G, XM_017014914.1:c.1548A>G, XM_017014903.2:c.1548A>G, XM_017014903.1:c.1548A>G, XM_017014905.2:c.1548A>G, XM_017014905.1:c.1548A>G, XM_017014902.2:c.1548A>G, XM_017014902.1:c.1548A>G, XM_017014906.2:c.1548A>G, XM_017014906.1:c.1548A>G, XM_017014900.2:c.1548A>G, XM_017014900.1:c.1548A>G, XM_017014904.2:c.1548A>G, XM_017014904.1:c.1548A>G, XM_017014909.2:c.1092A>G, XM_017014909.1:c.1092A>G, NM_001354069.2:c.1548A>G, NM_001354069.1:c.1548A>G, NM_001354070.2:c.108A>G, NM_001354070.1:c.108A>G, NM_001354071.2:c.108A>G, NM_001354071.1:c.108A>G, XM_047423580.1:c.1548A>G, XM_047423570.1:c.1548A>G, XM_047423572.1:c.1548A>G, XM_047423573.1:c.1548A>G, XM_047423575.1:c.1548A>G, XM_047423571.1:c.1548A>G, XM_047423574.1:c.1548A>G, XM_047423576.1:c.1548A>G, XM_047423577.1:c.1548A>G, XM_047423578.1:c.1548A>G, XM_047423579.1:c.108A>G, XR_007061328.1:n.2402A>G

                    10.

                    rs1485905562 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:83903391 (GRCh38)
                      9:86518306 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:83903390:C:T
                      Gene:
                      KIF27 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.83903391C>T, NC_000009.11:g.86518306C>T, XM_011518848.4:c.1127G>A, XM_011518848.3:c.1127G>A, XM_011518848.2:c.1127G>A, XM_011518848.1:c.1127G>A, NM_017576.4:c.1127G>A, NM_017576.3:c.1127G>A, NM_017576.2:c.1127G>A, XM_011518850.3:c.1127G>A, XM_011518850.2:c.1127G>A, XM_011518850.1:c.1127G>A, XM_011518854.3:c.1127G>A, XM_011518854.2:c.1127G>A, XM_011518854.1:c.1127G>A, XM_017014901.3:c.1127G>A, XM_017014901.2:c.1127G>A, XM_017014901.1:c.1127G>A, XM_011518849.3:c.1127G>A, XM_011518849.2:c.1127G>A, XM_011518849.1:c.1127G>A, NM_001271927.3:c.1127G>A, NM_001271927.2:c.1127G>A, NM_001271927.1:c.1127G>A, NM_001271928.3:c.1127G>A, NM_001271928.2:c.1127G>A, NM_001271928.1:c.1127G>A, XM_011518857.3:c.53G>A, XM_011518857.2:c.53G>A, XM_011518857.1:c.53G>A, XM_011518856.3:c.1127G>A, XM_011518856.2:c.1127G>A, XM_011518856.1:c.1127G>A, XM_017014914.3:c.1127G>A, XM_017014914.2:c.1127G>A, XM_017014914.1:c.1127G>A, XM_017014903.2:c.1127G>A, XM_017014903.1:c.1127G>A, XM_017014905.2:c.1127G>A, XM_017014905.1:c.1127G>A, XM_017014902.2:c.1127G>A, XM_017014902.1:c.1127G>A, XM_017014906.2:c.1127G>A, XM_017014906.1:c.1127G>A, XM_017014900.2:c.1127G>A, XM_017014900.1:c.1127G>A, XM_017014904.2:c.1127G>A, XM_017014904.1:c.1127G>A, XM_017014909.2:c.671G>A, XM_017014909.1:c.671G>A, NM_001354069.2:c.1127G>A, NM_001354069.1:c.1127G>A, XM_047423580.1:c.1127G>A, XM_047423570.1:c.1127G>A, XM_047423572.1:c.1127G>A, XM_047423573.1:c.1127G>A, XM_047423575.1:c.1127G>A, XM_047423571.1:c.1127G>A, XM_047423574.1:c.1127G>A, XM_047423576.1:c.1127G>A, XM_047423577.1:c.1127G>A, XM_047423578.1:c.1127G>A, XR_007061328.1:n.1981G>A, XP_011517150.1:p.Gly376Asp, NP_060046.1:p.Gly376Asp, XP_011517152.1:p.Gly376Asp, XP_011517156.1:p.Gly376Asp, XP_016870390.1:p.Gly376Asp, XP_011517151.1:p.Gly376Asp, NP_001258856.1:p.Gly376Asp, NP_001258857.1:p.Gly376Asp, XP_011517159.1:p.Gly18Asp, XP_011517158.1:p.Gly376Asp, XP_016870403.1:p.Gly376Asp, XP_016870392.1:p.Gly376Asp, XP_016870394.1:p.Gly376Asp, XP_016870391.1:p.Gly376Asp, XP_016870395.1:p.Gly376Asp, XP_016870389.1:p.Gly376Asp, XP_016870393.1:p.Gly376Asp, XP_016870398.1:p.Gly224Asp, NP_001340998.1:p.Gly376Asp, XP_047279536.1:p.Gly376Asp, XP_047279526.1:p.Gly376Asp, XP_047279528.1:p.Gly376Asp, XP_047279529.1:p.Gly376Asp, XP_047279531.1:p.Gly376Asp, XP_047279527.1:p.Gly376Asp, XP_047279530.1:p.Gly376Asp, XP_047279532.1:p.Gly376Asp, XP_047279533.1:p.Gly376Asp, XP_047279534.1:p.Gly376Asp

                      11.

                      rs1484699358 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        9:83837143 (GRCh38)
                        9:86452058 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:83837142:G:C
                        Gene:
                        KIF27 (Varview), LOC101927552 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000009.12:g.83837143G>C, NC_000009.11:g.86452058G>C, XM_011518848.4:c.4142C>G, XM_011518848.3:c.4142C>G, XM_011518848.2:c.4142C>G, XM_011518848.1:c.4142C>G, NM_017576.4:c.4064C>G, NM_017576.3:c.4064C>G, NM_017576.2:c.4064C>G, XM_011518850.3:c.4142C>G, XM_011518850.2:c.4142C>G, XM_011518850.1:c.4142C>G, XM_011518854.3:c.3749C>G, XM_011518854.2:c.3749C>G, XM_011518854.1:c.3749C>G, XM_017014901.3:c.4142C>G, XM_017014901.2:c.4142C>G, XM_017014901.1:c.4142C>G, XM_011518849.3:c.4142C>G, XM_011518849.2:c.4142C>G, XM_011518849.1:c.4142C>G, NM_001271927.3:c.3866C>G, NM_001271927.2:c.3866C>G, NM_001271927.1:c.3866C>G, NM_001271928.3:c.3773C>G, NM_001271928.2:c.3773C>G, NM_001271928.1:c.3773C>G, XM_011518857.3:c.3068C>G, XM_011518857.2:c.3068C>G, XM_011518857.1:c.3068C>G, XR_001746791.3:n.2981G>C, XR_001746791.2:n.2886G>C, XR_001746791.1:n.2886G>C, XM_017014903.2:c.4064C>G, XM_017014903.1:c.4064C>G, XM_017014905.2:c.3944C>G, XM_017014905.1:c.3944C>G, XM_017014902.2:c.4142C>G, XM_017014902.1:c.4142C>G, XM_017014906.2:c.3926C>G, XM_017014906.1:c.3926C>G, XM_017014900.2:c.4142C>G, XM_017014900.1:c.4142C>G, XM_017014904.2:c.4064C>G, XM_017014904.1:c.4064C>G, XM_017014909.2:c.3686C>G, XM_017014909.1:c.3686C>G, NM_001354069.2:c.3671C>G, NM_001354069.1:c.3671C>G, NM_001354070.2:c.2624C>G, NM_001354070.1:c.2624C>G, NM_001354071.2:c.2408C>G, NM_001354071.1:c.2408C>G, XR_001746789.2:n.3090G>C, XR_001746789.1:n.2995G>C, XR_001746790.2:n.3004G>C, XR_001746790.1:n.2909G>C, XR_001746785.2:n.2895G>C, XR_001746785.1:n.2800G>C, XR_001746784.2:n.2541G>C, XR_001746784.1:n.2446G>C, XR_001746793.2:n.2506G>C, XR_001746793.1:n.2506G>C, XR_002956861.2:n.2373G>C, XR_002956861.1:n.2278G>C, XR_001746788.2:n.2024G>C, XR_001746788.1:n.1929G>C, XR_001746794.2:n.1749G>C, XR_001746794.1:n.1654G>C, XR_001746795.2:n.1309G>C, XR_001746795.1:n.1214G>C, XM_047423570.1:c.4142C>G, XM_047423572.1:c.4064C>G, XM_047423573.1:c.4064C>G, XM_047423575.1:c.4064C>G, XM_047423571.1:c.4142C>G, XM_047423582.1:c.2237C>G, XM_047423574.1:c.4064C>G, XM_047423576.1:c.3848C>G, XM_047423577.1:c.3773C>G, XM_047423578.1:c.3473C>G, XM_047423579.1:c.2702C>G, XR_007061618.1:n.2116G>C, XR_007061619.1:n.1003G>C, XP_011517150.1:p.Pro1381Arg, NP_060046.1:p.Pro1355Arg, XP_011517152.1:p.Pro1381Arg, XP_011517156.1:p.Pro1250Arg, XP_016870390.1:p.Pro1381Arg, XP_011517151.1:p.Pro1381Arg, NP_001258856.1:p.Pro1289Arg, NP_001258857.1:p.Pro1258Arg, XP_011517159.1:p.Pro1023Arg, XP_016870392.1:p.Pro1355Arg, XP_016870394.1:p.Pro1315Arg, XP_016870391.1:p.Pro1381Arg, XP_016870395.1:p.Pro1309Arg, XP_016870389.1:p.Pro1381Arg, XP_016870393.1:p.Pro1355Arg, XP_016870398.1:p.Pro1229Arg, NP_001340998.1:p.Pro1224Arg, NP_001340999.1:p.Pro875Arg, NP_001341000.1:p.Pro803Arg, XP_047279526.1:p.Pro1381Arg, XP_047279528.1:p.Pro1355Arg, XP_047279529.1:p.Pro1355Arg, XP_047279531.1:p.Pro1355Arg, XP_047279527.1:p.Pro1381Arg, XP_047279538.1:p.Pro746Arg, XP_047279530.1:p.Pro1355Arg, XP_047279532.1:p.Pro1283Arg, XP_047279533.1:p.Pro1258Arg, XP_047279534.1:p.Pro1158Arg, XP_047279535.1:p.Pro901Arg

                        12.

                        rs1484624833 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:83891354 (GRCh38)
                          9:86506269 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:83891353:G:A
                          Gene:
                          KIF27 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000084/1 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000009.12:g.83891354G>A, NC_000009.11:g.86506269G>A, XM_011518848.4:c.1828C>T, XM_011518848.3:c.1828C>T, XM_011518848.2:c.1828C>T, XM_011518848.1:c.1828C>T, NM_017576.4:c.1750C>T, NM_017576.3:c.1750C>T, NM_017576.2:c.1750C>T, XM_011518850.3:c.1828C>T, XM_011518850.2:c.1828C>T, XM_011518850.1:c.1828C>T, XM_011518854.3:c.1828C>T, XM_011518854.2:c.1828C>T, XM_011518854.1:c.1828C>T, XM_017014901.3:c.1828C>T, XM_017014901.2:c.1828C>T, XM_017014901.1:c.1828C>T, XM_011518849.3:c.1828C>T, XM_011518849.2:c.1828C>T, XM_011518849.1:c.1828C>T, NM_001271927.3:c.1750C>T, NM_001271927.2:c.1750C>T, NM_001271927.1:c.1750C>T, NM_001271928.3:c.1750C>T, NM_001271928.2:c.1750C>T, NM_001271928.1:c.1750C>T, XM_011518857.3:c.754C>T, XM_011518857.2:c.754C>T, XM_011518857.1:c.754C>T, XM_011518856.3:c.1828C>T, XM_011518856.2:c.1828C>T, XM_011518856.1:c.1828C>T, XM_017014914.3:c.1750C>T, XM_017014914.2:c.1750C>T, XM_017014914.1:c.1750C>T, XM_017014903.2:c.1750C>T, XM_017014903.1:c.1750C>T, XM_017014905.2:c.1828C>T, XM_017014905.1:c.1828C>T, XM_017014902.2:c.1828C>T, XM_017014902.1:c.1828C>T, XM_017014906.2:c.1828C>T, XM_017014906.1:c.1828C>T, XM_017014900.2:c.1828C>T, XM_017014900.1:c.1828C>T, XM_017014904.2:c.1750C>T, XM_017014904.1:c.1750C>T, XM_017014909.2:c.1372C>T, XM_017014909.1:c.1372C>T, NM_001354069.2:c.1750C>T, NM_001354069.1:c.1750C>T, NM_001354070.2:c.310C>T, NM_001354070.1:c.310C>T, NM_001354071.2:c.310C>T, NM_001354071.1:c.310C>T, XM_047423580.1:c.1750C>T, XM_047423570.1:c.1828C>T, XM_047423572.1:c.1750C>T, XM_047423573.1:c.1750C>T, XM_047423575.1:c.1750C>T, XM_047423571.1:c.1828C>T, XM_047423582.1:c.-2119C>T, XM_047423574.1:c.1750C>T, XM_047423576.1:c.1750C>T, XM_047423577.1:c.1750C>T, XM_047423578.1:c.1750C>T, XM_047423579.1:c.388C>T, XR_007061328.1:n.2682C>T, XP_011517150.1:p.Pro610Ser, NP_060046.1:p.Pro584Ser, XP_011517152.1:p.Pro610Ser, XP_011517156.1:p.Pro610Ser, XP_016870390.1:p.Pro610Ser, XP_011517151.1:p.Pro610Ser, NP_001258856.1:p.Pro584Ser, NP_001258857.1:p.Pro584Ser, XP_011517159.1:p.Pro252Ser, XP_011517158.1:p.Pro610Ser, XP_016870403.1:p.Pro584Ser, XP_016870392.1:p.Pro584Ser, XP_016870394.1:p.Pro610Ser, XP_016870391.1:p.Pro610Ser, XP_016870395.1:p.Pro610Ser, XP_016870389.1:p.Pro610Ser, XP_016870393.1:p.Pro584Ser, XP_016870398.1:p.Pro458Ser, NP_001340998.1:p.Pro584Ser, NP_001340999.1:p.Pro104Ser, NP_001341000.1:p.Pro104Ser, XP_047279536.1:p.Pro584Ser, XP_047279526.1:p.Pro610Ser, XP_047279528.1:p.Pro584Ser, XP_047279529.1:p.Pro584Ser, XP_047279531.1:p.Pro584Ser, XP_047279527.1:p.Pro610Ser, XP_047279530.1:p.Pro584Ser, XP_047279532.1:p.Pro584Ser, XP_047279533.1:p.Pro584Ser, XP_047279534.1:p.Pro584Ser, XP_047279535.1:p.Pro130Ser

                          13.

                          rs1484154428 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:83853662 (GRCh38)
                            9:86468577 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:83853661:C:T
                            Gene:
                            KIF27 (Varview), LOC124900638 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000009.12:g.83853662C>T, NC_000009.11:g.86468577C>T, XM_011518848.4:c.3402G>A, XM_011518848.3:c.3402G>A, XM_011518848.2:c.3402G>A, XM_011518848.1:c.3402G>A, NM_017576.4:c.3324G>A, NM_017576.3:c.3324G>A, NM_017576.2:c.3324G>A, XM_011518850.3:c.3402G>A, XM_011518850.2:c.3402G>A, XM_011518850.1:c.3402G>A, XM_011518854.3:c.3009G>A, XM_011518854.2:c.3009G>A, XM_011518854.1:c.3009G>A, XM_017014901.3:c.3402G>A, XM_017014901.2:c.3402G>A, XM_017014901.1:c.3402G>A, XM_011518849.3:c.3402G>A, XM_011518849.2:c.3402G>A, XM_011518849.1:c.3402G>A, NM_001271927.3:c.3126G>A, NM_001271927.2:c.3126G>A, NM_001271927.1:c.3126G>A, NM_001271928.3:c.3033G>A, NM_001271928.2:c.3033G>A, NM_001271928.1:c.3033G>A, XM_011518857.3:c.2328G>A, XM_011518857.2:c.2328G>A, XM_011518857.1:c.2328G>A, XM_011518856.3:c.3402G>A, XM_011518856.2:c.3402G>A, XM_011518856.1:c.3402G>A, XM_017014903.2:c.3324G>A, XM_017014903.1:c.3324G>A, XM_017014905.2:c.3204G>A, XM_017014905.1:c.3204G>A, XM_017014902.2:c.3402G>A, XM_017014902.1:c.3402G>A, XM_017014906.2:c.3186G>A, XM_017014906.1:c.3186G>A, XM_017014900.2:c.3402G>A, XM_017014900.1:c.3402G>A, XM_017014904.2:c.3324G>A, XM_017014904.1:c.3324G>A, XM_017014909.2:c.2946G>A, XM_017014909.1:c.2946G>A, NM_001354069.2:c.2931G>A, NM_001354069.1:c.2931G>A, NM_001354070.2:c.1884G>A, NM_001354070.1:c.1884G>A, NM_001354071.2:c.1668G>A, NM_001354071.1:c.1668G>A, XM_047423570.1:c.3402G>A, XM_047423572.1:c.3324G>A, XM_047423573.1:c.3324G>A, XM_047423575.1:c.3324G>A, XM_047423571.1:c.3402G>A, XM_047423582.1:c.1497G>A, XM_047423574.1:c.3324G>A, XM_047423576.1:c.3108G>A, XM_047423577.1:c.3033G>A, XM_047423578.1:c.2733G>A, XM_047423579.1:c.1962G>A

                            14.

                            rs1483659279 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              9:83870587 (GRCh38)
                              9:86485502 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:83870586:C:G,NC_000009.12:83870586:C:T
                              Gene:
                              KIF27 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.00022/1 (ALFA)
                              T=0.00004/1 (TOMMO)
                              HGVS:
                              NC_000009.12:g.83870587C>G, NC_000009.12:g.83870587C>T, NC_000009.11:g.86485502C>G, NC_000009.11:g.86485502C>T, XM_011518848.4:c.2767G>C, XM_011518848.4:c.2767G>A, XM_011518848.3:c.2767G>C, XM_011518848.3:c.2767G>A, XM_011518848.2:c.2767G>C, XM_011518848.2:c.2767G>A, XM_011518848.1:c.2767G>C, XM_011518848.1:c.2767G>A, NM_017576.4:c.2689G>C, NM_017576.4:c.2689G>A, NM_017576.3:c.2689G>C, NM_017576.3:c.2689G>A, NM_017576.2:c.2689G>C, NM_017576.2:c.2689G>A, XM_011518850.3:c.2767G>C, XM_011518850.3:c.2767G>A, XM_011518850.2:c.2767G>C, XM_011518850.2:c.2767G>A, XM_011518850.1:c.2767G>C, XM_011518850.1:c.2767G>A, XM_011518854.3:c.2767G>C, XM_011518854.3:c.2767G>A, XM_011518854.2:c.2767G>C, XM_011518854.2:c.2767G>A, XM_011518854.1:c.2767G>C, XM_011518854.1:c.2767G>A, XM_017014901.3:c.2767G>C, XM_017014901.3:c.2767G>A, XM_017014901.2:c.2767G>C, XM_017014901.2:c.2767G>A, XM_017014901.1:c.2767G>C, XM_017014901.1:c.2767G>A, XM_011518849.3:c.2767G>C, XM_011518849.3:c.2767G>A, XM_011518849.2:c.2767G>C, XM_011518849.2:c.2767G>A, XM_011518849.1:c.2767G>C, XM_011518849.1:c.2767G>A, NM_001271927.3:c.2491G>C, NM_001271927.3:c.2491G>A, NM_001271927.2:c.2491G>C, NM_001271927.2:c.2491G>A, NM_001271927.1:c.2491G>C, NM_001271927.1:c.2491G>A, XM_011518857.3:c.1693G>C, XM_011518857.3:c.1693G>A, XM_011518857.2:c.1693G>C, XM_011518857.2:c.1693G>A, XM_011518857.1:c.1693G>C, XM_011518857.1:c.1693G>A, XM_011518856.3:c.2767G>C, XM_011518856.3:c.2767G>A, XM_011518856.2:c.2767G>C, XM_011518856.2:c.2767G>A, XM_011518856.1:c.2767G>C, XM_011518856.1:c.2767G>A, XM_017014903.2:c.2689G>C, XM_017014903.2:c.2689G>A, XM_017014903.1:c.2689G>C, XM_017014903.1:c.2689G>A, XM_017014905.2:c.2569G>C, XM_017014905.2:c.2569G>A, XM_017014905.1:c.2569G>C, XM_017014905.1:c.2569G>A, XM_017014902.2:c.2767G>C, XM_017014902.2:c.2767G>A, XM_017014902.1:c.2767G>C, XM_017014902.1:c.2767G>A, XM_017014906.2:c.2767G>C, XM_017014906.2:c.2767G>A, XM_017014906.1:c.2767G>C, XM_017014906.1:c.2767G>A, XM_017014900.2:c.2767G>C, XM_017014900.2:c.2767G>A, XM_017014900.1:c.2767G>C, XM_017014900.1:c.2767G>A, XM_017014904.2:c.2689G>C, XM_017014904.2:c.2689G>A, XM_017014904.1:c.2689G>C, XM_017014904.1:c.2689G>A, XM_017014909.2:c.2311G>C, XM_017014909.2:c.2311G>A, XM_017014909.1:c.2311G>C, XM_017014909.1:c.2311G>A, NM_001354069.2:c.2689G>C, NM_001354069.2:c.2689G>A, NM_001354069.1:c.2689G>C, NM_001354069.1:c.2689G>A, NM_001354070.2:c.1249G>C, NM_001354070.2:c.1249G>A, NM_001354070.1:c.1249G>C, NM_001354070.1:c.1249G>A, NM_001354071.2:c.1249G>C, NM_001354071.2:c.1249G>A, NM_001354071.1:c.1249G>C, NM_001354071.1:c.1249G>A, XM_047423580.1:c.2491G>C, XM_047423580.1:c.2491G>A, XM_047423570.1:c.2767G>C, XM_047423570.1:c.2767G>A, XM_047423572.1:c.2689G>C, XM_047423572.1:c.2689G>A, XM_047423573.1:c.2689G>C, XM_047423573.1:c.2689G>A, XM_047423575.1:c.2689G>C, XM_047423575.1:c.2689G>A, XM_047423571.1:c.2767G>C, XM_047423571.1:c.2767G>A, XM_047423582.1:c.862G>C, XM_047423582.1:c.862G>A, XM_047423574.1:c.2689G>C, XM_047423574.1:c.2689G>A, XM_047423576.1:c.2689G>C, XM_047423576.1:c.2689G>A, XM_047423578.1:c.2491G>C, XM_047423578.1:c.2491G>A, XM_047423579.1:c.1327G>C, XM_047423579.1:c.1327G>A, XR_007061328.1:n.3217G>C, XR_007061328.1:n.3217G>A, XP_011517150.1:p.Ala923Pro, XP_011517150.1:p.Ala923Thr, NP_060046.1:p.Ala897Pro, NP_060046.1:p.Ala897Thr, XP_011517152.1:p.Ala923Pro, XP_011517152.1:p.Ala923Thr, XP_011517156.1:p.Ala923Pro, XP_011517156.1:p.Ala923Thr, XP_016870390.1:p.Ala923Pro, XP_016870390.1:p.Ala923Thr, XP_011517151.1:p.Ala923Pro, XP_011517151.1:p.Ala923Thr, NP_001258856.1:p.Ala831Pro, NP_001258856.1:p.Ala831Thr, XP_011517159.1:p.Ala565Pro, XP_011517159.1:p.Ala565Thr, XP_011517158.1:p.Ala923Pro, XP_011517158.1:p.Ala923Thr, XP_016870392.1:p.Ala897Pro, XP_016870392.1:p.Ala897Thr, XP_016870394.1:p.Ala857Pro, XP_016870394.1:p.Ala857Thr, XP_016870391.1:p.Ala923Pro, XP_016870391.1:p.Ala923Thr, XP_016870395.1:p.Ala923Pro, XP_016870395.1:p.Ala923Thr, XP_016870389.1:p.Ala923Pro, XP_016870389.1:p.Ala923Thr, XP_016870393.1:p.Ala897Pro, XP_016870393.1:p.Ala897Thr, XP_016870398.1:p.Ala771Pro, XP_016870398.1:p.Ala771Thr, NP_001340998.1:p.Ala897Pro, NP_001340998.1:p.Ala897Thr, NP_001340999.1:p.Ala417Pro, NP_001340999.1:p.Ala417Thr, NP_001341000.1:p.Ala417Pro, NP_001341000.1:p.Ala417Thr, XP_047279536.1:p.Ala831Pro, XP_047279536.1:p.Ala831Thr, XP_047279526.1:p.Ala923Pro, XP_047279526.1:p.Ala923Thr, XP_047279528.1:p.Ala897Pro, XP_047279528.1:p.Ala897Thr, XP_047279529.1:p.Ala897Pro, XP_047279529.1:p.Ala897Thr, XP_047279531.1:p.Ala897Pro, XP_047279531.1:p.Ala897Thr, XP_047279527.1:p.Ala923Pro, XP_047279527.1:p.Ala923Thr, XP_047279538.1:p.Ala288Pro, XP_047279538.1:p.Ala288Thr, XP_047279530.1:p.Ala897Pro, XP_047279530.1:p.Ala897Thr, XP_047279532.1:p.Ala897Pro, XP_047279532.1:p.Ala897Thr, XP_047279534.1:p.Ala831Pro, XP_047279534.1:p.Ala831Thr, XP_047279535.1:p.Ala443Pro, XP_047279535.1:p.Ala443Thr

                              15.

                              rs1483445019 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                9:83915346 (GRCh38)
                                9:86530261 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:83915345:G:C
                                Gene:
                                KIF27 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000009.12:g.83915346G>C, NC_000009.11:g.86530261G>C, XM_011518848.4:c.246C>G, XM_011518848.3:c.246C>G, XM_011518848.2:c.246C>G, XM_011518848.1:c.246C>G, NM_017576.4:c.246C>G, NM_017576.3:c.246C>G, NM_017576.2:c.246C>G, XM_011518850.3:c.246C>G, XM_011518850.2:c.246C>G, XM_011518850.1:c.246C>G, XM_011518854.3:c.246C>G, XM_011518854.2:c.246C>G, XM_011518854.1:c.246C>G, XM_017014901.3:c.246C>G, XM_017014901.2:c.246C>G, XM_017014901.1:c.246C>G, XM_011518849.3:c.246C>G, XM_011518849.2:c.246C>G, XM_011518849.1:c.246C>G, NM_001271927.3:c.246C>G, NM_001271927.2:c.246C>G, NM_001271927.1:c.246C>G, NM_001271928.3:c.246C>G, NM_001271928.2:c.246C>G, NM_001271928.1:c.246C>G, XM_011518856.3:c.246C>G, XM_011518856.2:c.246C>G, XM_011518856.1:c.246C>G, XM_017014914.3:c.246C>G, XM_017014914.2:c.246C>G, XM_017014914.1:c.246C>G, XM_017014903.2:c.246C>G, XM_017014903.1:c.246C>G, XM_017014905.2:c.246C>G, XM_017014905.1:c.246C>G, XM_017014902.2:c.246C>G, XM_017014902.1:c.246C>G, XM_017014906.2:c.246C>G, XM_017014906.1:c.246C>G, XM_017014900.2:c.246C>G, XM_017014900.1:c.246C>G, XM_017014904.2:c.246C>G, XM_017014904.1:c.246C>G, NM_001354069.2:c.246C>G, NM_001354069.1:c.246C>G, NM_001354070.2:c.-428C>G, NM_001354070.1:c.-428C>G, NM_001354071.2:c.-236C>G, NM_001354071.1:c.-236C>G, XM_047423580.1:c.246C>G, XM_047423570.1:c.246C>G, XM_047423572.1:c.246C>G, XM_047423573.1:c.246C>G, XM_047423575.1:c.246C>G, XM_047423571.1:c.246C>G, XM_047423574.1:c.246C>G, XM_047423576.1:c.246C>G, XM_047423577.1:c.246C>G, XM_047423578.1:c.246C>G, XR_007061328.1:n.1100C>G

                                16.

                                rs1483150342 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  9:83889187 (GRCh38)
                                  9:86504102 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:83889186:T:A
                                  Gene:
                                  KIF27 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000028/1 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000015/4 (TOPMED)
                                  A=0.000029/4 (GnomAD)
                                  HGVS:
                                  NC_000009.12:g.83889187T>A, NC_000009.11:g.86504102T>A, XM_011518848.4:c.1954A>T, XM_011518848.3:c.1954A>T, XM_011518848.2:c.1954A>T, XM_011518848.1:c.1954A>T, NM_017576.4:c.1876A>T, NM_017576.3:c.1876A>T, NM_017576.2:c.1876A>T, XM_011518850.3:c.1954A>T, XM_011518850.2:c.1954A>T, XM_011518850.1:c.1954A>T, XM_011518854.3:c.1954A>T, XM_011518854.2:c.1954A>T, XM_011518854.1:c.1954A>T, XM_017014901.3:c.1954A>T, XM_017014901.2:c.1954A>T, XM_017014901.1:c.1954A>T, XM_011518849.3:c.1954A>T, XM_011518849.2:c.1954A>T, XM_011518849.1:c.1954A>T, NM_001271927.3:c.1876A>T, NM_001271927.2:c.1876A>T, NM_001271927.1:c.1876A>T, NM_001271928.3:c.1876A>T, NM_001271928.2:c.1876A>T, NM_001271928.1:c.1876A>T, XM_011518857.3:c.880A>T, XM_011518857.2:c.880A>T, XM_011518857.1:c.880A>T, XM_011518856.3:c.1954A>T, XM_011518856.2:c.1954A>T, XM_011518856.1:c.1954A>T, XM_017014914.3:c.1876A>T, XM_017014914.2:c.1876A>T, XM_017014914.1:c.1876A>T, XM_017014903.2:c.1876A>T, XM_017014903.1:c.1876A>T, XM_017014905.2:c.1954A>T, XM_017014905.1:c.1954A>T, XM_017014902.2:c.1954A>T, XM_017014902.1:c.1954A>T, XM_017014906.2:c.1954A>T, XM_017014906.1:c.1954A>T, XM_017014900.2:c.1954A>T, XM_017014900.1:c.1954A>T, XM_017014904.2:c.1876A>T, XM_017014904.1:c.1876A>T, XM_017014909.2:c.1498A>T, XM_017014909.1:c.1498A>T, NM_001354069.2:c.1876A>T, NM_001354069.1:c.1876A>T, NM_001354070.2:c.436A>T, NM_001354070.1:c.436A>T, NM_001354071.2:c.436A>T, NM_001354071.1:c.436A>T, XM_047423580.1:c.1876A>T, XM_047423570.1:c.1954A>T, XM_047423572.1:c.1876A>T, XM_047423573.1:c.1876A>T, XM_047423575.1:c.1876A>T, XM_047423571.1:c.1954A>T, XM_047423582.1:c.49A>T, XM_047423574.1:c.1876A>T, XM_047423576.1:c.1876A>T, XM_047423577.1:c.1876A>T, XM_047423578.1:c.1876A>T, XM_047423579.1:c.514A>T, XR_007061328.1:n.2808A>T, XP_011517150.1:p.Met652Leu, NP_060046.1:p.Met626Leu, XP_011517152.1:p.Met652Leu, XP_011517156.1:p.Met652Leu, XP_016870390.1:p.Met652Leu, XP_011517151.1:p.Met652Leu, NP_001258856.1:p.Met626Leu, NP_001258857.1:p.Met626Leu, XP_011517159.1:p.Met294Leu, XP_011517158.1:p.Met652Leu, XP_016870403.1:p.Met626Leu, XP_016870392.1:p.Met626Leu, XP_016870394.1:p.Met652Leu, XP_016870391.1:p.Met652Leu, XP_016870395.1:p.Met652Leu, XP_016870389.1:p.Met652Leu, XP_016870393.1:p.Met626Leu, XP_016870398.1:p.Met500Leu, NP_001340998.1:p.Met626Leu, NP_001340999.1:p.Met146Leu, NP_001341000.1:p.Met146Leu, XP_047279536.1:p.Met626Leu, XP_047279526.1:p.Met652Leu, XP_047279528.1:p.Met626Leu, XP_047279529.1:p.Met626Leu, XP_047279531.1:p.Met626Leu, XP_047279527.1:p.Met652Leu, XP_047279538.1:p.Met17Leu, XP_047279530.1:p.Met626Leu, XP_047279532.1:p.Met626Leu, XP_047279533.1:p.Met626Leu, XP_047279534.1:p.Met626Leu, XP_047279535.1:p.Met172Leu

                                  17.

                                  rs1482497079 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    9:83883980 (GRCh38)
                                    9:86498895 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:83883979:T:G
                                    Gene:
                                    KIF27 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,intron_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000043/1 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000012/3 (GnomAD_exomes)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000009.12:g.83883980T>G, NC_000009.11:g.86498895T>G, XM_011518848.4:c.2356A>C, XM_011518848.3:c.2356A>C, XM_011518848.2:c.2356A>C, XM_011518848.1:c.2356A>C, NM_017576.4:c.2278A>C, NM_017576.3:c.2278A>C, NM_017576.2:c.2278A>C, XM_011518850.3:c.2356A>C, XM_011518850.2:c.2356A>C, XM_011518850.1:c.2356A>C, XM_011518854.3:c.2356A>C, XM_011518854.2:c.2356A>C, XM_011518854.1:c.2356A>C, XM_017014901.3:c.2356A>C, XM_017014901.2:c.2356A>C, XM_017014901.1:c.2356A>C, XM_011518849.3:c.2356A>C, XM_011518849.2:c.2356A>C, XM_011518849.1:c.2356A>C, NM_001271927.3:c.2278A>C, NM_001271927.2:c.2278A>C, NM_001271927.1:c.2278A>C, NM_001271928.3:c.2278A>C, NM_001271928.2:c.2278A>C, NM_001271928.1:c.2278A>C, XM_011518857.3:c.1282A>C, XM_011518857.2:c.1282A>C, XM_011518857.1:c.1282A>C, XM_011518856.3:c.2356A>C, XM_011518856.2:c.2356A>C, XM_011518856.1:c.2356A>C, XM_017014914.3:c.2278A>C, XM_017014914.2:c.2278A>C, XM_017014914.1:c.2278A>C, XM_017014903.2:c.2278A>C, XM_017014903.1:c.2278A>C, XM_017014905.2:c.2356A>C, XM_017014905.1:c.2356A>C, XM_017014902.2:c.2356A>C, XM_017014902.1:c.2356A>C, XM_017014906.2:c.2356A>C, XM_017014906.1:c.2356A>C, XM_017014900.2:c.2356A>C, XM_017014900.1:c.2356A>C, XM_017014904.2:c.2278A>C, XM_017014904.1:c.2278A>C, XM_017014909.2:c.1900A>C, XM_017014909.1:c.1900A>C, NM_001354069.2:c.2278A>C, NM_001354069.1:c.2278A>C, NM_001354070.2:c.838A>C, NM_001354070.1:c.838A>C, NM_001354071.2:c.838A>C, NM_001354071.1:c.838A>C, XM_047423580.1:c.2278A>C, XM_047423570.1:c.2356A>C, XM_047423572.1:c.2278A>C, XM_047423573.1:c.2278A>C, XM_047423575.1:c.2278A>C, XM_047423571.1:c.2356A>C, XM_047423582.1:c.451A>C, XM_047423574.1:c.2278A>C, XM_047423576.1:c.2278A>C, XM_047423577.1:c.2278A>C, XM_047423578.1:c.2278A>C, XM_047423579.1:c.916A>C, XP_011517150.1:p.Lys786Gln, NP_060046.1:p.Lys760Gln, XP_011517152.1:p.Lys786Gln, XP_011517156.1:p.Lys786Gln, XP_016870390.1:p.Lys786Gln, XP_011517151.1:p.Lys786Gln, NP_001258856.1:p.Lys760Gln, NP_001258857.1:p.Lys760Gln, XP_011517159.1:p.Lys428Gln, XP_011517158.1:p.Lys786Gln, XP_016870403.1:p.Lys760Gln, XP_016870392.1:p.Lys760Gln, XP_016870394.1:p.Lys786Gln, XP_016870391.1:p.Lys786Gln, XP_016870395.1:p.Lys786Gln, XP_016870389.1:p.Lys786Gln, XP_016870393.1:p.Lys760Gln, XP_016870398.1:p.Lys634Gln, NP_001340998.1:p.Lys760Gln, NP_001340999.1:p.Lys280Gln, NP_001341000.1:p.Lys280Gln, XP_047279536.1:p.Lys760Gln, XP_047279526.1:p.Lys786Gln, XP_047279528.1:p.Lys760Gln, XP_047279529.1:p.Lys760Gln, XP_047279531.1:p.Lys760Gln, XP_047279527.1:p.Lys786Gln, XP_047279538.1:p.Lys151Gln, XP_047279530.1:p.Lys760Gln, XP_047279532.1:p.Lys760Gln, XP_047279533.1:p.Lys760Gln, XP_047279534.1:p.Lys760Gln, XP_047279535.1:p.Lys306Gln

                                    18.

                                    rs1482156736 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      9:83837209 (GRCh38)
                                      9:86452124 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:83837208:G:A,NC_000009.12:83837208:G:C
                                      Gene:
                                      KIF27 (Varview), LOC101927552 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      A=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000009.12:g.83837209G>A, NC_000009.12:g.83837209G>C, NC_000009.11:g.86452124G>A, NC_000009.11:g.86452124G>C, XM_011518848.4:c.4076C>T, XM_011518848.4:c.4076C>G, XM_011518848.3:c.4076C>T, XM_011518848.3:c.4076C>G, XM_011518848.2:c.4076C>T, XM_011518848.2:c.4076C>G, XM_011518848.1:c.4076C>T, XM_011518848.1:c.4076C>G, NM_017576.4:c.3998C>T, NM_017576.4:c.3998C>G, NM_017576.3:c.3998C>T, NM_017576.3:c.3998C>G, NM_017576.2:c.3998C>T, NM_017576.2:c.3998C>G, XM_011518850.3:c.4076C>T, XM_011518850.3:c.4076C>G, XM_011518850.2:c.4076C>T, XM_011518850.2:c.4076C>G, XM_011518850.1:c.4076C>T, XM_011518850.1:c.4076C>G, XM_011518854.3:c.3683C>T, XM_011518854.3:c.3683C>G, XM_011518854.2:c.3683C>T, XM_011518854.2:c.3683C>G, XM_011518854.1:c.3683C>T, XM_011518854.1:c.3683C>G, XM_017014901.3:c.4076C>T, XM_017014901.3:c.4076C>G, XM_017014901.2:c.4076C>T, XM_017014901.2:c.4076C>G, XM_017014901.1:c.4076C>T, XM_017014901.1:c.4076C>G, XM_011518849.3:c.4076C>T, XM_011518849.3:c.4076C>G, XM_011518849.2:c.4076C>T, XM_011518849.2:c.4076C>G, XM_011518849.1:c.4076C>T, XM_011518849.1:c.4076C>G, NM_001271927.3:c.3800C>T, NM_001271927.3:c.3800C>G, NM_001271927.2:c.3800C>T, NM_001271927.2:c.3800C>G, NM_001271927.1:c.3800C>T, NM_001271927.1:c.3800C>G, NM_001271928.3:c.3707C>T, NM_001271928.3:c.3707C>G, NM_001271928.2:c.3707C>T, NM_001271928.2:c.3707C>G, NM_001271928.1:c.3707C>T, NM_001271928.1:c.3707C>G, XM_011518857.3:c.3002C>T, XM_011518857.3:c.3002C>G, XM_011518857.2:c.3002C>T, XM_011518857.2:c.3002C>G, XM_011518857.1:c.3002C>T, XM_011518857.1:c.3002C>G, XR_001746791.3:n.3047G>A, XR_001746791.3:n.3047G>C, XM_017014903.2:c.3998C>T, XM_017014903.2:c.3998C>G, XM_017014903.1:c.3998C>T, XM_017014903.1:c.3998C>G, XM_017014905.2:c.3878C>T, XM_017014905.2:c.3878C>G, XM_017014905.1:c.3878C>T, XM_017014905.1:c.3878C>G, XM_017014902.2:c.4076C>T, XM_017014902.2:c.4076C>G, XM_017014902.1:c.4076C>T, XM_017014902.1:c.4076C>G, XM_017014906.2:c.3860C>T, XM_017014906.2:c.3860C>G, XM_017014906.1:c.3860C>T, XM_017014906.1:c.3860C>G, XM_017014900.2:c.4076C>T, XM_017014900.2:c.4076C>G, XM_017014900.1:c.4076C>T, XM_017014900.1:c.4076C>G, XM_017014904.2:c.3998C>T, XM_017014904.2:c.3998C>G, XM_017014904.1:c.3998C>T, XM_017014904.1:c.3998C>G, XM_017014909.2:c.3620C>T, XM_017014909.2:c.3620C>G, XM_017014909.1:c.3620C>T, XM_017014909.1:c.3620C>G, NM_001354069.2:c.3605C>T, NM_001354069.2:c.3605C>G, NM_001354069.1:c.3605C>T, NM_001354069.1:c.3605C>G, NM_001354070.2:c.2558C>T, NM_001354070.2:c.2558C>G, NM_001354070.1:c.2558C>T, NM_001354070.1:c.2558C>G, NM_001354071.2:c.2342C>T, NM_001354071.2:c.2342C>G, NM_001354071.1:c.2342C>T, NM_001354071.1:c.2342C>G, XR_001746789.2:n.3156G>A, XR_001746789.2:n.3156G>C, XR_001746790.2:n.3070G>A, XR_001746790.2:n.3070G>C, XR_001746785.2:n.2961G>A, XR_001746785.2:n.2961G>C, XR_001746784.2:n.2607G>A, XR_001746784.2:n.2607G>C, XR_001746793.2:n.2572G>A, XR_001746793.2:n.2572G>C, XR_002956861.2:n.2439G>A, XR_002956861.2:n.2439G>C, XR_001746788.2:n.2090G>A, XR_001746788.2:n.2090G>C, XR_001746794.2:n.1815G>A, XR_001746794.2:n.1815G>C, XR_001746795.2:n.1375G>A, XR_001746795.2:n.1375G>C, XM_047423570.1:c.4076C>T, XM_047423570.1:c.4076C>G, XM_047423572.1:c.3998C>T, XM_047423572.1:c.3998C>G, XM_047423573.1:c.3998C>T, XM_047423573.1:c.3998C>G, XM_047423575.1:c.3998C>T, XM_047423575.1:c.3998C>G, XM_047423571.1:c.4076C>T, XM_047423571.1:c.4076C>G, XM_047423582.1:c.2171C>T, XM_047423582.1:c.2171C>G, XM_047423574.1:c.3998C>T, XM_047423574.1:c.3998C>G, XM_047423576.1:c.3782C>T, XM_047423576.1:c.3782C>G, XM_047423577.1:c.3707C>T, XM_047423577.1:c.3707C>G, XM_047423578.1:c.3407C>T, XM_047423578.1:c.3407C>G, XM_047423579.1:c.2636C>T, XM_047423579.1:c.2636C>G, XR_007061618.1:n.2182G>A, XR_007061618.1:n.2182G>C, XR_007061619.1:n.1069G>A, XR_007061619.1:n.1069G>C, XP_011517150.1:p.Ser1359Phe, XP_011517150.1:p.Ser1359Cys, NP_060046.1:p.Ser1333Phe, NP_060046.1:p.Ser1333Cys, XP_011517152.1:p.Ser1359Phe, XP_011517152.1:p.Ser1359Cys, XP_011517156.1:p.Ser1228Phe, XP_011517156.1:p.Ser1228Cys, XP_016870390.1:p.Ser1359Phe, XP_016870390.1:p.Ser1359Cys, XP_011517151.1:p.Ser1359Phe, XP_011517151.1:p.Ser1359Cys, NP_001258856.1:p.Ser1267Phe, NP_001258856.1:p.Ser1267Cys, NP_001258857.1:p.Ser1236Phe, NP_001258857.1:p.Ser1236Cys, XP_011517159.1:p.Ser1001Phe, XP_011517159.1:p.Ser1001Cys, XP_016870392.1:p.Ser1333Phe, XP_016870392.1:p.Ser1333Cys, XP_016870394.1:p.Ser1293Phe, XP_016870394.1:p.Ser1293Cys, XP_016870391.1:p.Ser1359Phe, XP_016870391.1:p.Ser1359Cys, XP_016870395.1:p.Ser1287Phe, XP_016870395.1:p.Ser1287Cys, XP_016870389.1:p.Ser1359Phe, XP_016870389.1:p.Ser1359Cys, XP_016870393.1:p.Ser1333Phe, XP_016870393.1:p.Ser1333Cys, XP_016870398.1:p.Ser1207Phe, XP_016870398.1:p.Ser1207Cys, NP_001340998.1:p.Ser1202Phe, NP_001340998.1:p.Ser1202Cys, NP_001340999.1:p.Ser853Phe, NP_001340999.1:p.Ser853Cys, NP_001341000.1:p.Ser781Phe, NP_001341000.1:p.Ser781Cys, XP_047279526.1:p.Ser1359Phe, XP_047279526.1:p.Ser1359Cys, XP_047279528.1:p.Ser1333Phe, XP_047279528.1:p.Ser1333Cys, XP_047279529.1:p.Ser1333Phe, XP_047279529.1:p.Ser1333Cys, XP_047279531.1:p.Ser1333Phe, XP_047279531.1:p.Ser1333Cys, XP_047279527.1:p.Ser1359Phe, XP_047279527.1:p.Ser1359Cys, XP_047279538.1:p.Ser724Phe, XP_047279538.1:p.Ser724Cys, XP_047279530.1:p.Ser1333Phe, XP_047279530.1:p.Ser1333Cys, XP_047279532.1:p.Ser1261Phe, XP_047279532.1:p.Ser1261Cys, XP_047279533.1:p.Ser1236Phe, XP_047279533.1:p.Ser1236Cys, XP_047279534.1:p.Ser1136Phe, XP_047279534.1:p.Ser1136Cys, XP_047279535.1:p.Ser879Phe, XP_047279535.1:p.Ser879Cys

                                      19.

                                      rs1481234693 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:83891351 (GRCh38)
                                        9:86506266 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:83891350:A:G
                                        Gene:
                                        KIF27 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        NC_000009.12:g.83891351A>G, NC_000009.11:g.86506266A>G, XM_011518848.4:c.1831T>C, XM_011518848.3:c.1831T>C, XM_011518848.2:c.1831T>C, XM_011518848.1:c.1831T>C, NM_017576.4:c.1753T>C, NM_017576.3:c.1753T>C, NM_017576.2:c.1753T>C, XM_011518850.3:c.1831T>C, XM_011518850.2:c.1831T>C, XM_011518850.1:c.1831T>C, XM_011518854.3:c.1831T>C, XM_011518854.2:c.1831T>C, XM_011518854.1:c.1831T>C, XM_017014901.3:c.1831T>C, XM_017014901.2:c.1831T>C, XM_017014901.1:c.1831T>C, XM_011518849.3:c.1831T>C, XM_011518849.2:c.1831T>C, XM_011518849.1:c.1831T>C, NM_001271927.3:c.1753T>C, NM_001271927.2:c.1753T>C, NM_001271927.1:c.1753T>C, NM_001271928.3:c.1753T>C, NM_001271928.2:c.1753T>C, NM_001271928.1:c.1753T>C, XM_011518857.3:c.757T>C, XM_011518857.2:c.757T>C, XM_011518857.1:c.757T>C, XM_011518856.3:c.1831T>C, XM_011518856.2:c.1831T>C, XM_011518856.1:c.1831T>C, XM_017014914.3:c.1753T>C, XM_017014914.2:c.1753T>C, XM_017014914.1:c.1753T>C, XM_017014903.2:c.1753T>C, XM_017014903.1:c.1753T>C, XM_017014905.2:c.1831T>C, XM_017014905.1:c.1831T>C, XM_017014902.2:c.1831T>C, XM_017014902.1:c.1831T>C, XM_017014906.2:c.1831T>C, XM_017014906.1:c.1831T>C, XM_017014900.2:c.1831T>C, XM_017014900.1:c.1831T>C, XM_017014904.2:c.1753T>C, XM_017014904.1:c.1753T>C, XM_017014909.2:c.1375T>C, XM_017014909.1:c.1375T>C, NM_001354069.2:c.1753T>C, NM_001354069.1:c.1753T>C, NM_001354070.2:c.313T>C, NM_001354070.1:c.313T>C, NM_001354071.2:c.313T>C, NM_001354071.1:c.313T>C, XM_047423580.1:c.1753T>C, XM_047423570.1:c.1831T>C, XM_047423572.1:c.1753T>C, XM_047423573.1:c.1753T>C, XM_047423575.1:c.1753T>C, XM_047423571.1:c.1831T>C, XM_047423582.1:c.-2116T>C, XM_047423574.1:c.1753T>C, XM_047423576.1:c.1753T>C, XM_047423577.1:c.1753T>C, XM_047423578.1:c.1753T>C, XM_047423579.1:c.391T>C, XR_007061328.1:n.2685T>C, XP_011517150.1:p.Phe611Leu, NP_060046.1:p.Phe585Leu, XP_011517152.1:p.Phe611Leu, XP_011517156.1:p.Phe611Leu, XP_016870390.1:p.Phe611Leu, XP_011517151.1:p.Phe611Leu, NP_001258856.1:p.Phe585Leu, NP_001258857.1:p.Phe585Leu, XP_011517159.1:p.Phe253Leu, XP_011517158.1:p.Phe611Leu, XP_016870403.1:p.Phe585Leu, XP_016870392.1:p.Phe585Leu, XP_016870394.1:p.Phe611Leu, XP_016870391.1:p.Phe611Leu, XP_016870395.1:p.Phe611Leu, XP_016870389.1:p.Phe611Leu, XP_016870393.1:p.Phe585Leu, XP_016870398.1:p.Phe459Leu, NP_001340998.1:p.Phe585Leu, NP_001340999.1:p.Phe105Leu, NP_001341000.1:p.Phe105Leu, XP_047279536.1:p.Phe585Leu, XP_047279526.1:p.Phe611Leu, XP_047279528.1:p.Phe585Leu, XP_047279529.1:p.Phe585Leu, XP_047279531.1:p.Phe585Leu, XP_047279527.1:p.Phe611Leu, XP_047279530.1:p.Phe585Leu, XP_047279532.1:p.Phe585Leu, XP_047279533.1:p.Phe585Leu, XP_047279534.1:p.Phe585Leu, XP_047279535.1:p.Phe131Leu

                                        20.

                                        rs1481206400 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          9:83867848 (GRCh38)
                                          9:86482763 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:83867847:G:C
                                          Gene:
                                          KIF27 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.83867848G>C, NC_000009.11:g.86482763G>C, XM_011518848.4:c.2848C>G, XM_011518848.3:c.2848C>G, XM_011518848.2:c.2848C>G, XM_011518848.1:c.2848C>G, NM_017576.4:c.2770C>G, NM_017576.3:c.2770C>G, NM_017576.2:c.2770C>G, XM_011518850.3:c.2848C>G, XM_011518850.2:c.2848C>G, XM_011518850.1:c.2848C>G, XM_017014901.3:c.2848C>G, XM_017014901.2:c.2848C>G, XM_017014901.1:c.2848C>G, XM_011518849.3:c.2848C>G, XM_011518849.2:c.2848C>G, XM_011518849.1:c.2848C>G, NM_001271927.3:c.2572C>G, NM_001271927.2:c.2572C>G, NM_001271927.1:c.2572C>G, XM_011518857.3:c.1774C>G, XM_011518857.2:c.1774C>G, XM_011518857.1:c.1774C>G, XM_011518856.3:c.2848C>G, XM_011518856.2:c.2848C>G, XM_011518856.1:c.2848C>G, XM_017014903.2:c.2770C>G, XM_017014903.1:c.2770C>G, XM_017014905.2:c.2650C>G, XM_017014905.1:c.2650C>G, XM_017014902.2:c.2848C>G, XM_017014902.1:c.2848C>G, XM_017014906.2:c.2848C>G, XM_017014906.1:c.2848C>G, XM_017014900.2:c.2848C>G, XM_017014900.1:c.2848C>G, XM_017014904.2:c.2770C>G, XM_017014904.1:c.2770C>G, XM_017014909.2:c.2392C>G, XM_017014909.1:c.2392C>G, NM_001354070.2:c.1330C>G, NM_001354070.1:c.1330C>G, NM_001354071.2:c.1330C>G, NM_001354071.1:c.1330C>G, XM_047423570.1:c.2848C>G, XM_047423572.1:c.2770C>G, XM_047423573.1:c.2770C>G, XM_047423575.1:c.2770C>G, XM_047423571.1:c.2848C>G, XM_047423582.1:c.943C>G, XM_047423574.1:c.2770C>G, XM_047423576.1:c.2770C>G, XM_047423579.1:c.1408C>G, XR_007061328.1:n.3298C>G, XP_011517150.1:p.Gln950Glu, NP_060046.1:p.Gln924Glu, XP_011517152.1:p.Gln950Glu, XP_016870390.1:p.Gln950Glu, XP_011517151.1:p.Gln950Glu, NP_001258856.1:p.Gln858Glu, XP_011517159.1:p.Gln592Glu, XP_011517158.1:p.Gln950Glu, XP_016870392.1:p.Gln924Glu, XP_016870394.1:p.Gln884Glu, XP_016870391.1:p.Gln950Glu, XP_016870395.1:p.Gln950Glu, XP_016870389.1:p.Gln950Glu, XP_016870393.1:p.Gln924Glu, XP_016870398.1:p.Gln798Glu, NP_001340999.1:p.Gln444Glu, NP_001341000.1:p.Gln444Glu, XP_047279526.1:p.Gln950Glu, XP_047279528.1:p.Gln924Glu, XP_047279529.1:p.Gln924Glu, XP_047279531.1:p.Gln924Glu, XP_047279527.1:p.Gln950Glu, XP_047279538.1:p.Gln315Glu, XP_047279530.1:p.Gln924Glu, XP_047279532.1:p.Gln924Glu, XP_047279535.1:p.Gln470Glu

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