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Items: 1 to 20 of 1314

1.

rs1489896947 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    1:200603840 (GRCh38)
    1:200572968 (GRCh37)
    Canonical SPDI:
    NC_000001.11:200603839:T:G
    Gene:
    KIF14 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.200603840T>G, NC_000001.10:g.200572968T>G, NG_042074.1:g.21895A>C, NM_014875.3:c.1862A>C, NM_014875.2:c.1862A>C, NM_001305792.1:c.389A>C, XM_011510231.3:c.1862A>C, XM_011510231.2:c.1862A>C, XM_011510231.1:c.1862A>C, XM_011510233.3:c.1778A>C, XM_011510233.2:c.1778A>C, XM_011510233.1:c.1778A>C, XM_011510232.3:c.1862A>C, XM_011510232.2:c.1862A>C, XM_011510232.1:c.1862A>C, XM_011510235.3:c.1490A>C, XM_011510235.2:c.1490A>C, XM_011510235.1:c.1490A>C, XM_017003006.2:c.1733A>C, XM_017003006.1:c.1733A>C, XM_017003007.2:c.1295A>C, XM_017003007.1:c.1295A>C, XM_047436184.1:c.1778A>C, XM_047436197.1:c.1490A>C, XM_047436181.1:c.1778A>C, XM_047436195.1:c.1649A>C, XM_047436190.1:c.1778A>C, XM_047436199.1:c.1361A>C, XM_047436198.1:c.1490A>C, NP_055690.1:p.Lys621Thr, NP_001292721.1:p.Lys130Thr, XP_011508533.1:p.Lys621Thr, XP_011508535.1:p.Lys593Thr, XP_011508534.1:p.Lys621Thr, XP_011508537.1:p.Lys497Thr, XP_016858495.1:p.Lys578Thr, XP_016858496.1:p.Lys432Thr, XP_047292140.1:p.Lys593Thr, XP_047292153.1:p.Lys497Thr, XP_047292137.1:p.Lys593Thr, XP_047292151.1:p.Lys550Thr, XP_047292146.1:p.Lys593Thr, XP_047292155.1:p.Lys454Thr, XP_047292154.1:p.Lys497Thr

    2.

    rs1489544668 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:200586207 (GRCh38)
      1:200555335 (GRCh37)
      Canonical SPDI:
      NC_000001.11:200586206:G:C
      Gene:
      KIF14 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.200586207G>C, NC_000001.10:g.200555335G>C, NG_042074.1:g.39528C>G, NM_014875.3:c.3135C>G, NM_014875.2:c.3135C>G, NM_001305792.1:c.1662C>G, XM_011510231.3:c.3135C>G, XM_011510231.2:c.3135C>G, XM_011510231.1:c.3135C>G, XM_011510233.3:c.3051C>G, XM_011510233.2:c.3051C>G, XM_011510233.1:c.3051C>G, XM_011510232.3:c.3135C>G, XM_011510232.2:c.3135C>G, XM_011510232.1:c.3135C>G, XM_011510235.3:c.2763C>G, XM_011510235.2:c.2763C>G, XM_011510235.1:c.2763C>G, XM_017003006.2:c.3006C>G, XM_017003006.1:c.3006C>G, XM_017003007.2:c.2568C>G, XM_017003007.1:c.2568C>G, XM_047436184.1:c.3051C>G, XM_047436197.1:c.2763C>G, XM_047436181.1:c.3051C>G, XM_047436195.1:c.2922C>G, XM_047436190.1:c.3051C>G, XM_047436199.1:c.2634C>G, XM_047436198.1:c.2763C>G, NP_055690.1:p.Ile1045Met, NP_001292721.1:p.Ile554Met, XP_011508533.1:p.Ile1045Met, XP_011508535.1:p.Ile1017Met, XP_011508534.1:p.Ile1045Met, XP_011508537.1:p.Ile921Met, XP_016858495.1:p.Ile1002Met, XP_016858496.1:p.Ile856Met, XP_047292140.1:p.Ile1017Met, XP_047292153.1:p.Ile921Met, XP_047292137.1:p.Ile1017Met, XP_047292151.1:p.Ile974Met, XP_047292146.1:p.Ile1017Met, XP_047292155.1:p.Ile878Met, XP_047292154.1:p.Ile921Met

      3.

      rs1486318268 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        1:200615358 (GRCh38)
        1:200584486 (GRCh37)
        Canonical SPDI:
        NC_000001.11:200615357:T:C,NC_000001.11:200615357:T:G
        Gene:
        KIF14 (Varview)
        Functional Consequence:
        missense_variant,5_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.200615358T>C, NC_000001.11:g.200615358T>G, NC_000001.10:g.200584486T>C, NC_000001.10:g.200584486T>G, NG_042074.1:g.10377A>G, NG_042074.1:g.10377A>C, NM_014875.3:c.1364A>G, NM_014875.3:c.1364A>C, NM_014875.2:c.1364A>G, NM_014875.2:c.1364A>C, NM_001305792.1:c.-22A>G, NM_001305792.1:c.-22A>C, XM_011510231.3:c.1364A>G, XM_011510231.3:c.1364A>C, XM_011510231.2:c.1364A>G, XM_011510231.2:c.1364A>C, XM_011510231.1:c.1364A>G, XM_011510231.1:c.1364A>C, XM_011510233.3:c.1280A>G, XM_011510233.3:c.1280A>C, XM_011510233.2:c.1280A>G, XM_011510233.2:c.1280A>C, XM_011510233.1:c.1280A>G, XM_011510233.1:c.1280A>C, XM_011510232.3:c.1364A>G, XM_011510232.3:c.1364A>C, XM_011510232.2:c.1364A>G, XM_011510232.2:c.1364A>C, XM_011510232.1:c.1364A>G, XM_011510232.1:c.1364A>C, XM_011510235.3:c.992A>G, XM_011510235.3:c.992A>C, XM_011510235.2:c.992A>G, XM_011510235.2:c.992A>C, XM_011510235.1:c.992A>G, XM_011510235.1:c.992A>C, XM_017003006.2:c.1235A>G, XM_017003006.2:c.1235A>C, XM_017003006.1:c.1235A>G, XM_017003006.1:c.1235A>C, XM_017003007.2:c.797A>G, XM_017003007.2:c.797A>C, XM_017003007.1:c.797A>G, XM_017003007.1:c.797A>C, XM_047436184.1:c.1280A>G, XM_047436184.1:c.1280A>C, XM_047436197.1:c.992A>G, XM_047436197.1:c.992A>C, XM_047436181.1:c.1280A>G, XM_047436181.1:c.1280A>C, XM_047436195.1:c.1151A>G, XM_047436195.1:c.1151A>C, XM_047436190.1:c.1280A>G, XM_047436190.1:c.1280A>C, XM_047436199.1:c.863A>G, XM_047436199.1:c.863A>C, XM_047436198.1:c.992A>G, XM_047436198.1:c.992A>C, NP_055690.1:p.Tyr455Cys, NP_055690.1:p.Tyr455Ser, XP_011508533.1:p.Tyr455Cys, XP_011508533.1:p.Tyr455Ser, XP_011508535.1:p.Tyr427Cys, XP_011508535.1:p.Tyr427Ser, XP_011508534.1:p.Tyr455Cys, XP_011508534.1:p.Tyr455Ser, XP_011508537.1:p.Tyr331Cys, XP_011508537.1:p.Tyr331Ser, XP_016858495.1:p.Tyr412Cys, XP_016858495.1:p.Tyr412Ser, XP_016858496.1:p.Tyr266Cys, XP_016858496.1:p.Tyr266Ser, XP_047292140.1:p.Tyr427Cys, XP_047292140.1:p.Tyr427Ser, XP_047292153.1:p.Tyr331Cys, XP_047292153.1:p.Tyr331Ser, XP_047292137.1:p.Tyr427Cys, XP_047292137.1:p.Tyr427Ser, XP_047292151.1:p.Tyr384Cys, XP_047292151.1:p.Tyr384Ser, XP_047292146.1:p.Tyr427Cys, XP_047292146.1:p.Tyr427Ser, XP_047292155.1:p.Tyr288Cys, XP_047292155.1:p.Tyr288Ser, XP_047292154.1:p.Tyr331Cys, XP_047292154.1:p.Tyr331Ser

        4.

        rs1486246348 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:200608903 (GRCh38)
          1:200578031 (GRCh37)
          Canonical SPDI:
          NC_000001.11:200608902:A:C
          Gene:
          KIF14 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.200608903A>C, NC_000001.10:g.200578031A>C, NG_042074.1:g.16832T>G, NM_014875.3:c.1481T>G, NM_014875.2:c.1481T>G, NM_001305792.1:c.8T>G, XM_011510231.3:c.1481T>G, XM_011510231.2:c.1481T>G, XM_011510231.1:c.1481T>G, XM_011510233.3:c.1397T>G, XM_011510233.2:c.1397T>G, XM_011510233.1:c.1397T>G, XM_011510232.3:c.1481T>G, XM_011510232.2:c.1481T>G, XM_011510232.1:c.1481T>G, XM_011510235.3:c.1109T>G, XM_011510235.2:c.1109T>G, XM_011510235.1:c.1109T>G, XM_017003006.2:c.1352T>G, XM_017003006.1:c.1352T>G, XM_017003007.2:c.914T>G, XM_017003007.1:c.914T>G, XM_047436184.1:c.1397T>G, XM_047436197.1:c.1109T>G, XM_047436181.1:c.1397T>G, XM_047436195.1:c.1268T>G, XM_047436190.1:c.1397T>G, XM_047436199.1:c.980T>G, XM_047436198.1:c.1109T>G, NP_055690.1:p.Phe494Cys, NP_001292721.1:p.Phe3Cys, XP_011508533.1:p.Phe494Cys, XP_011508535.1:p.Phe466Cys, XP_011508534.1:p.Phe494Cys, XP_011508537.1:p.Phe370Cys, XP_016858495.1:p.Phe451Cys, XP_016858496.1:p.Phe305Cys, XP_047292140.1:p.Phe466Cys, XP_047292153.1:p.Phe370Cys, XP_047292137.1:p.Phe466Cys, XP_047292151.1:p.Phe423Cys, XP_047292146.1:p.Phe466Cys, XP_047292155.1:p.Phe327Cys, XP_047292154.1:p.Phe370Cys

          5.

          rs1486066638 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:200554586 (GRCh38)
            1:200523714 (GRCh37)
            Canonical SPDI:
            NC_000001.11:200554585:T:C
            Gene:
            KIF14 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1484743318 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:200615451 (GRCh38)
              1:200584579 (GRCh37)
              Canonical SPDI:
              NC_000001.11:200615450:T:C
              Gene:
              KIF14 (Varview)
              Functional Consequence:
              missense_variant,5_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.200615451T>C, NC_000001.10:g.200584579T>C, NG_042074.1:g.10284A>G, NM_014875.3:c.1271A>G, NM_014875.2:c.1271A>G, NM_001305792.1:c.-115A>G, XM_011510231.3:c.1271A>G, XM_011510231.2:c.1271A>G, XM_011510231.1:c.1271A>G, XM_011510233.3:c.1187A>G, XM_011510233.2:c.1187A>G, XM_011510233.1:c.1187A>G, XM_011510232.3:c.1271A>G, XM_011510232.2:c.1271A>G, XM_011510232.1:c.1271A>G, XM_011510235.3:c.899A>G, XM_011510235.2:c.899A>G, XM_011510235.1:c.899A>G, XM_017003006.2:c.1142A>G, XM_017003006.1:c.1142A>G, XM_017003007.2:c.704A>G, XM_017003007.1:c.704A>G, XM_047436184.1:c.1187A>G, XM_047436197.1:c.899A>G, XM_047436181.1:c.1187A>G, XM_047436195.1:c.1058A>G, XM_047436190.1:c.1187A>G, XM_047436199.1:c.770A>G, XM_047436198.1:c.899A>G, NP_055690.1:p.Tyr424Cys, XP_011508533.1:p.Tyr424Cys, XP_011508535.1:p.Tyr396Cys, XP_011508534.1:p.Tyr424Cys, XP_011508537.1:p.Tyr300Cys, XP_016858495.1:p.Tyr381Cys, XP_016858496.1:p.Tyr235Cys, XP_047292140.1:p.Tyr396Cys, XP_047292153.1:p.Tyr300Cys, XP_047292137.1:p.Tyr396Cys, XP_047292151.1:p.Tyr353Cys, XP_047292146.1:p.Tyr396Cys, XP_047292155.1:p.Tyr257Cys, XP_047292154.1:p.Tyr300Cys

              7.

              rs1482748473 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:200575641 (GRCh38)
                1:200544769 (GRCh37)
                Canonical SPDI:
                NC_000001.11:200575640:T:C
                Gene:
                KIF14 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                HGVS:

                8.

                rs1482246988 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  1:200615427 (GRCh38)
                  1:200584555 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:200615426:A:C,NC_000001.11:200615426:A:G
                  Gene:
                  KIF14 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000001.11:g.200615427A>C, NC_000001.11:g.200615427A>G, NC_000001.10:g.200584555A>C, NC_000001.10:g.200584555A>G, NG_042074.1:g.10308T>G, NG_042074.1:g.10308T>C, NM_014875.3:c.1295T>G, NM_014875.3:c.1295T>C, NM_014875.2:c.1295T>G, NM_014875.2:c.1295T>C, NM_001305792.1:c.-91T>G, NM_001305792.1:c.-91T>C, XM_011510231.3:c.1295T>G, XM_011510231.3:c.1295T>C, XM_011510231.2:c.1295T>G, XM_011510231.2:c.1295T>C, XM_011510231.1:c.1295T>G, XM_011510231.1:c.1295T>C, XM_011510233.3:c.1211T>G, XM_011510233.3:c.1211T>C, XM_011510233.2:c.1211T>G, XM_011510233.2:c.1211T>C, XM_011510233.1:c.1211T>G, XM_011510233.1:c.1211T>C, XM_011510232.3:c.1295T>G, XM_011510232.3:c.1295T>C, XM_011510232.2:c.1295T>G, XM_011510232.2:c.1295T>C, XM_011510232.1:c.1295T>G, XM_011510232.1:c.1295T>C, XM_011510235.3:c.923T>G, XM_011510235.3:c.923T>C, XM_011510235.2:c.923T>G, XM_011510235.2:c.923T>C, XM_011510235.1:c.923T>G, XM_011510235.1:c.923T>C, XM_017003006.2:c.1166T>G, XM_017003006.2:c.1166T>C, XM_017003006.1:c.1166T>G, XM_017003006.1:c.1166T>C, XM_017003007.2:c.728T>G, XM_017003007.2:c.728T>C, XM_017003007.1:c.728T>G, XM_017003007.1:c.728T>C, XM_047436184.1:c.1211T>G, XM_047436184.1:c.1211T>C, XM_047436197.1:c.923T>G, XM_047436197.1:c.923T>C, XM_047436181.1:c.1211T>G, XM_047436181.1:c.1211T>C, XM_047436195.1:c.1082T>G, XM_047436195.1:c.1082T>C, XM_047436190.1:c.1211T>G, XM_047436190.1:c.1211T>C, XM_047436199.1:c.794T>G, XM_047436199.1:c.794T>C, XM_047436198.1:c.923T>G, XM_047436198.1:c.923T>C, NP_055690.1:p.Leu432Arg, NP_055690.1:p.Leu432Pro, XP_011508533.1:p.Leu432Arg, XP_011508533.1:p.Leu432Pro, XP_011508535.1:p.Leu404Arg, XP_011508535.1:p.Leu404Pro, XP_011508534.1:p.Leu432Arg, XP_011508534.1:p.Leu432Pro, XP_011508537.1:p.Leu308Arg, XP_011508537.1:p.Leu308Pro, XP_016858495.1:p.Leu389Arg, XP_016858495.1:p.Leu389Pro, XP_016858496.1:p.Leu243Arg, XP_016858496.1:p.Leu243Pro, XP_047292140.1:p.Leu404Arg, XP_047292140.1:p.Leu404Pro, XP_047292153.1:p.Leu308Arg, XP_047292153.1:p.Leu308Pro, XP_047292137.1:p.Leu404Arg, XP_047292137.1:p.Leu404Pro, XP_047292151.1:p.Leu361Arg, XP_047292151.1:p.Leu361Pro, XP_047292146.1:p.Leu404Arg, XP_047292146.1:p.Leu404Pro, XP_047292155.1:p.Leu265Arg, XP_047292155.1:p.Leu265Pro, XP_047292154.1:p.Leu308Arg, XP_047292154.1:p.Leu308Pro

                  9.

                  rs1482139648 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    1:200617915 (GRCh38)
                    1:200587043 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:200617914:A:C,NC_000001.11:200617914:A:G
                    Gene:
                    KIF14 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.200617915A>C, NC_000001.11:g.200617915A>G, NC_000001.10:g.200587043A>C, NC_000001.10:g.200587043A>G, NG_042074.1:g.7820T>G, NG_042074.1:g.7820T>C, NM_014875.3:c.809T>G, NM_014875.3:c.809T>C, NM_014875.2:c.809T>G, NM_014875.2:c.809T>C, NM_001305792.1:c.-577T>G, NM_001305792.1:c.-577T>C, XM_011510231.3:c.809T>G, XM_011510231.3:c.809T>C, XM_011510231.2:c.809T>G, XM_011510231.2:c.809T>C, XM_011510231.1:c.809T>G, XM_011510231.1:c.809T>C, XM_011510233.3:c.725T>G, XM_011510233.3:c.725T>C, XM_011510233.2:c.725T>G, XM_011510233.2:c.725T>C, XM_011510233.1:c.725T>G, XM_011510233.1:c.725T>C, XM_011510232.3:c.809T>G, XM_011510232.3:c.809T>C, XM_011510232.2:c.809T>G, XM_011510232.2:c.809T>C, XM_011510232.1:c.809T>G, XM_011510232.1:c.809T>C, XM_011510235.3:c.437T>G, XM_011510235.3:c.437T>C, XM_011510235.2:c.437T>G, XM_011510235.2:c.437T>C, XM_011510235.1:c.437T>G, XM_011510235.1:c.437T>C, XM_017003006.2:c.680T>G, XM_017003006.2:c.680T>C, XM_017003006.1:c.680T>G, XM_017003006.1:c.680T>C, XM_017003007.2:c.242T>G, XM_017003007.2:c.242T>C, XM_017003007.1:c.242T>G, XM_017003007.1:c.242T>C, XM_047436184.1:c.725T>G, XM_047436184.1:c.725T>C, XM_047436197.1:c.437T>G, XM_047436197.1:c.437T>C, XM_047436181.1:c.725T>G, XM_047436181.1:c.725T>C, XM_047436195.1:c.596T>G, XM_047436195.1:c.596T>C, XM_047436190.1:c.725T>G, XM_047436190.1:c.725T>C, XM_047436199.1:c.308T>G, XM_047436199.1:c.308T>C, XM_047436198.1:c.437T>G, XM_047436198.1:c.437T>C, NP_055690.1:p.Phe270Cys, NP_055690.1:p.Phe270Ser, XP_011508533.1:p.Phe270Cys, XP_011508533.1:p.Phe270Ser, XP_011508535.1:p.Phe242Cys, XP_011508535.1:p.Phe242Ser, XP_011508534.1:p.Phe270Cys, XP_011508534.1:p.Phe270Ser, XP_011508537.1:p.Phe146Cys, XP_011508537.1:p.Phe146Ser, XP_016858495.1:p.Phe227Cys, XP_016858495.1:p.Phe227Ser, XP_016858496.1:p.Phe81Cys, XP_016858496.1:p.Phe81Ser, XP_047292140.1:p.Phe242Cys, XP_047292140.1:p.Phe242Ser, XP_047292153.1:p.Phe146Cys, XP_047292153.1:p.Phe146Ser, XP_047292137.1:p.Phe242Cys, XP_047292137.1:p.Phe242Ser, XP_047292151.1:p.Phe199Cys, XP_047292151.1:p.Phe199Ser, XP_047292146.1:p.Phe242Cys, XP_047292146.1:p.Phe242Ser, XP_047292155.1:p.Phe103Cys, XP_047292155.1:p.Phe103Ser, XP_047292154.1:p.Phe146Cys, XP_047292154.1:p.Phe146Ser

                    10.

                    rs1481941090 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:200560725 (GRCh38)
                      1:200529853 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:200560724:G:A
                      Gene:
                      KIF14 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1480566112 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CTCAGATAGTT>- [Show Flanks]
                        Chromosome:
                        1:200598344 (GRCh38)
                        1:200567472 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:200598342:TCTCAGATAGTT:T
                        Gene:
                        KIF14 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,frameshift_variant
                        Validated:
                        by frequency
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.200598344_200598354del, NC_000001.10:g.200567472_200567482del, NG_042074.1:g.27382_27392del, NM_014875.3:c.2433_2443del, NM_014875.2:c.2433_2443del, NM_001305792.1:c.960_970del, XM_011510231.3:c.2433_2443del, XM_011510231.2:c.2433_2443del, XM_011510231.1:c.2433_2443del, XM_011510233.3:c.2349_2359del, XM_011510233.2:c.2349_2359del, XM_011510233.1:c.2349_2359del, XM_011510232.3:c.2433_2443del, XM_011510232.2:c.2433_2443del, XM_011510232.1:c.2433_2443del, XM_011510235.3:c.2061_2071del, XM_011510235.2:c.2061_2071del, XM_011510235.1:c.2061_2071del, XM_017003006.2:c.2304_2314del, XM_017003006.1:c.2304_2314del, XM_017003007.2:c.1866_1876del, XM_017003007.1:c.1866_1876del, XM_047436184.1:c.2349_2359del, XM_047436197.1:c.2061_2071del, XM_047436181.1:c.2349_2359del, XM_047436195.1:c.2220_2230del, XM_047436190.1:c.2349_2359del, XM_047436199.1:c.1932_1942del, XM_047436198.1:c.2061_2071del, NP_055690.1:p.Gln811fs, NP_001292721.1:p.Gln320fs, XP_011508533.1:p.Gln811fs, XP_011508535.1:p.Gln783fs, XP_011508534.1:p.Gln811fs, XP_011508537.1:p.Gln687fs, XP_016858495.1:p.Gln768fs, XP_016858496.1:p.Gln622fs, XP_047292140.1:p.Gln783fs, XP_047292153.1:p.Gln687fs, XP_047292137.1:p.Gln783fs, XP_047292151.1:p.Gln740fs, XP_047292146.1:p.Gln783fs, XP_047292155.1:p.Gln644fs, XP_047292154.1:p.Gln687fs

                        12.

                        rs1479756446 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          1:200586223 (GRCh38)
                          1:200555351 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:200586222:A:C
                          Gene:
                          KIF14 (Varview)
                          Functional Consequence:
                          stop_gained,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.200586223A>C, NC_000001.10:g.200555351A>C, NG_042074.1:g.39512T>G, NM_014875.3:c.3119T>G, NM_014875.2:c.3119T>G, NM_001305792.1:c.1646T>G, XM_011510231.3:c.3119T>G, XM_011510231.2:c.3119T>G, XM_011510231.1:c.3119T>G, XM_011510233.3:c.3035T>G, XM_011510233.2:c.3035T>G, XM_011510233.1:c.3035T>G, XM_011510232.3:c.3119T>G, XM_011510232.2:c.3119T>G, XM_011510232.1:c.3119T>G, XM_011510235.3:c.2747T>G, XM_011510235.2:c.2747T>G, XM_011510235.1:c.2747T>G, XM_017003006.2:c.2990T>G, XM_017003006.1:c.2990T>G, XM_017003007.2:c.2552T>G, XM_017003007.1:c.2552T>G, XM_047436184.1:c.3035T>G, XM_047436197.1:c.2747T>G, XM_047436181.1:c.3035T>G, XM_047436195.1:c.2906T>G, XM_047436190.1:c.3035T>G, XM_047436199.1:c.2618T>G, XM_047436198.1:c.2747T>G, NP_055690.1:p.Leu1040Ter, NP_001292721.1:p.Leu549Ter, XP_011508533.1:p.Leu1040Ter, XP_011508535.1:p.Leu1012Ter, XP_011508534.1:p.Leu1040Ter, XP_011508537.1:p.Leu916Ter, XP_016858495.1:p.Leu997Ter, XP_016858496.1:p.Leu851Ter, XP_047292140.1:p.Leu1012Ter, XP_047292153.1:p.Leu916Ter, XP_047292137.1:p.Leu1012Ter, XP_047292151.1:p.Leu969Ter, XP_047292146.1:p.Leu1012Ter, XP_047292155.1:p.Leu873Ter, XP_047292154.1:p.Leu916Ter

                          13.

                          rs1479481474 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            1:200569995 (GRCh38)
                            1:200539123 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:200569994:A:T
                            Gene:
                            KIF14 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.200569995A>T, NC_000001.10:g.200539123A>T, NG_042074.1:g.55740T>A, NM_014875.3:c.3577T>A, NM_014875.2:c.3577T>A, NM_001305792.1:c.2104T>A, XM_011510231.3:c.3577T>A, XM_011510231.2:c.3577T>A, XM_011510231.1:c.3577T>A, XM_011510233.3:c.3493T>A, XM_011510233.2:c.3493T>A, XM_011510233.1:c.3493T>A, XM_011510232.3:c.3577T>A, XM_011510232.2:c.3577T>A, XM_011510232.1:c.3577T>A, XM_011510235.3:c.3205T>A, XM_011510235.2:c.3205T>A, XM_011510235.1:c.3205T>A, XM_017003006.2:c.3448T>A, XM_017003006.1:c.3448T>A, XM_017003007.2:c.3010T>A, XM_017003007.1:c.3010T>A, XM_047436184.1:c.3493T>A, XM_047436197.1:c.3205T>A, XM_047436181.1:c.3493T>A, XM_047436195.1:c.3364T>A, XM_047436190.1:c.3493T>A, XM_047436199.1:c.3076T>A, XM_047436198.1:c.3205T>A, NP_055690.1:p.Leu1193Met, NP_001292721.1:p.Leu702Met, XP_011508533.1:p.Leu1193Met, XP_011508535.1:p.Leu1165Met, XP_011508534.1:p.Leu1193Met, XP_011508537.1:p.Leu1069Met, XP_016858495.1:p.Leu1150Met, XP_016858496.1:p.Leu1004Met, XP_047292140.1:p.Leu1165Met, XP_047292153.1:p.Leu1069Met, XP_047292137.1:p.Leu1165Met, XP_047292151.1:p.Leu1122Met, XP_047292146.1:p.Leu1165Met, XP_047292155.1:p.Leu1026Met, XP_047292154.1:p.Leu1069Met

                            14.

                            rs1478221241 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:200600371 (GRCh38)
                              1:200569499 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:200600370:A:G
                              Gene:
                              KIF14 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.200600371A>G, NC_000001.10:g.200569499A>G, NG_042074.1:g.25364T>C, NM_014875.3:c.2285T>C, NM_014875.2:c.2285T>C, NM_001305792.1:c.812T>C, XM_011510231.3:c.2285T>C, XM_011510231.2:c.2285T>C, XM_011510231.1:c.2285T>C, XM_011510233.3:c.2201T>C, XM_011510233.2:c.2201T>C, XM_011510233.1:c.2201T>C, XM_011510232.3:c.2285T>C, XM_011510232.2:c.2285T>C, XM_011510232.1:c.2285T>C, XM_011510235.3:c.1913T>C, XM_011510235.2:c.1913T>C, XM_011510235.1:c.1913T>C, XM_017003006.2:c.2156T>C, XM_017003006.1:c.2156T>C, XM_017003007.2:c.1718T>C, XM_017003007.1:c.1718T>C, XM_047436184.1:c.2201T>C, XM_047436197.1:c.1913T>C, XM_047436181.1:c.2201T>C, XM_047436195.1:c.2072T>C, XM_047436190.1:c.2201T>C, XM_047436199.1:c.1784T>C, XM_047436198.1:c.1913T>C, NP_055690.1:p.Met762Thr, NP_001292721.1:p.Met271Thr, XP_011508533.1:p.Met762Thr, XP_011508535.1:p.Met734Thr, XP_011508534.1:p.Met762Thr, XP_011508537.1:p.Met638Thr, XP_016858495.1:p.Met719Thr, XP_016858496.1:p.Met573Thr, XP_047292140.1:p.Met734Thr, XP_047292153.1:p.Met638Thr, XP_047292137.1:p.Met734Thr, XP_047292151.1:p.Met691Thr, XP_047292146.1:p.Met734Thr, XP_047292155.1:p.Met595Thr, XP_047292154.1:p.Met638Thr

                              15.

                              rs1478053968 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:200580312 (GRCh38)
                                1:200549440 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:200580311:G:A
                                Gene:
                                KIF14 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000001.11:g.200580312G>A, NC_000001.10:g.200549440G>A, NG_042074.1:g.45423C>T, NM_014875.3:c.3407C>T, NM_014875.2:c.3407C>T, NM_001305792.1:c.1934C>T, XM_011510231.3:c.3407C>T, XM_011510231.2:c.3407C>T, XM_011510231.1:c.3407C>T, XM_011510233.3:c.3323C>T, XM_011510233.2:c.3323C>T, XM_011510233.1:c.3323C>T, XM_011510232.3:c.3407C>T, XM_011510232.2:c.3407C>T, XM_011510232.1:c.3407C>T, XM_011510235.3:c.3035C>T, XM_011510235.2:c.3035C>T, XM_011510235.1:c.3035C>T, XM_017003006.2:c.3278C>T, XM_017003006.1:c.3278C>T, XM_017003007.2:c.2840C>T, XM_017003007.1:c.2840C>T, XM_047436184.1:c.3323C>T, XM_047436197.1:c.3035C>T, XM_047436181.1:c.3323C>T, XM_047436195.1:c.3194C>T, XM_047436190.1:c.3323C>T, XM_047436199.1:c.2906C>T, XM_047436198.1:c.3035C>T, NP_055690.1:p.Thr1136Ile, NP_001292721.1:p.Thr645Ile, XP_011508533.1:p.Thr1136Ile, XP_011508535.1:p.Thr1108Ile, XP_011508534.1:p.Thr1136Ile, XP_011508537.1:p.Thr1012Ile, XP_016858495.1:p.Thr1093Ile, XP_016858496.1:p.Thr947Ile, XP_047292140.1:p.Thr1108Ile, XP_047292153.1:p.Thr1012Ile, XP_047292137.1:p.Thr1108Ile, XP_047292151.1:p.Thr1065Ile, XP_047292146.1:p.Thr1108Ile, XP_047292155.1:p.Thr969Ile, XP_047292154.1:p.Thr1012Ile

                                16.

                                rs1477441911 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  1:200565491 (GRCh38)
                                  1:200534619 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:200565490:G:T
                                  Gene:
                                  KIF14 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1477191526 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:200598325 (GRCh38)
                                    1:200567453 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:200598324:T:G
                                    Gene:
                                    KIF14 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.200598325T>G, NC_000001.10:g.200567453T>G, NG_042074.1:g.27410A>C, NM_014875.3:c.2461A>C, NM_014875.2:c.2461A>C, NM_001305792.1:c.988A>C, XM_011510231.3:c.2461A>C, XM_011510231.2:c.2461A>C, XM_011510231.1:c.2461A>C, XM_011510233.3:c.2377A>C, XM_011510233.2:c.2377A>C, XM_011510233.1:c.2377A>C, XM_011510232.3:c.2461A>C, XM_011510232.2:c.2461A>C, XM_011510232.1:c.2461A>C, XM_011510235.3:c.2089A>C, XM_011510235.2:c.2089A>C, XM_011510235.1:c.2089A>C, XM_017003006.2:c.2332A>C, XM_017003006.1:c.2332A>C, XM_017003007.2:c.1894A>C, XM_017003007.1:c.1894A>C, XM_047436184.1:c.2377A>C, XM_047436197.1:c.2089A>C, XM_047436181.1:c.2377A>C, XM_047436195.1:c.2248A>C, XM_047436190.1:c.2377A>C, XM_047436199.1:c.1960A>C, XM_047436198.1:c.2089A>C, NP_055690.1:p.Lys821Gln, NP_001292721.1:p.Lys330Gln, XP_011508533.1:p.Lys821Gln, XP_011508535.1:p.Lys793Gln, XP_011508534.1:p.Lys821Gln, XP_011508537.1:p.Lys697Gln, XP_016858495.1:p.Lys778Gln, XP_016858496.1:p.Lys632Gln, XP_047292140.1:p.Lys793Gln, XP_047292153.1:p.Lys697Gln, XP_047292137.1:p.Lys793Gln, XP_047292151.1:p.Lys750Gln, XP_047292146.1:p.Lys793Gln, XP_047292155.1:p.Lys654Gln, XP_047292154.1:p.Lys697Gln

                                    18.

                                    rs1476624802 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:200565164 (GRCh38)
                                      1:200534292 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:200565163:T:C
                                      Gene:
                                      KIF14 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.200565164T>C, NC_000001.10:g.200534292T>C, NG_042074.1:g.60571A>G, NM_014875.3:c.3976A>G, NM_014875.2:c.3976A>G, NM_001305792.1:c.2503A>G, XM_011510231.3:c.3976A>G, XM_011510231.2:c.3976A>G, XM_011510231.1:c.3976A>G, XM_011510233.3:c.3892A>G, XM_011510233.2:c.3892A>G, XM_011510233.1:c.3892A>G, XM_011510232.3:c.3976A>G, XM_011510232.2:c.3976A>G, XM_011510232.1:c.3976A>G, XM_011510235.3:c.3604A>G, XM_011510235.2:c.3604A>G, XM_011510235.1:c.3604A>G, XM_017003006.2:c.3847A>G, XM_017003006.1:c.3847A>G, XM_017003007.2:c.3409A>G, XM_017003007.1:c.3409A>G, XM_047436184.1:c.3892A>G, XM_047436197.1:c.3604A>G, XM_047436181.1:c.3892A>G, XM_047436195.1:c.3763A>G, XM_047436190.1:c.3892A>G, XM_047436199.1:c.3475A>G, XM_047436198.1:c.3604A>G, NP_055690.1:p.Ser1326Gly, NP_001292721.1:p.Ser835Gly, XP_011508533.1:p.Ser1326Gly, XP_011508535.1:p.Ser1298Gly, XP_011508534.1:p.Ser1326Gly, XP_011508537.1:p.Ser1202Gly, XP_016858495.1:p.Ser1283Gly, XP_016858496.1:p.Ser1137Gly, XP_047292140.1:p.Ser1298Gly, XP_047292153.1:p.Ser1202Gly, XP_047292137.1:p.Ser1298Gly, XP_047292151.1:p.Ser1255Gly, XP_047292146.1:p.Ser1298Gly, XP_047292155.1:p.Ser1159Gly, XP_047292154.1:p.Ser1202Gly

                                      19.

                                      rs1475981018 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:200615598 (GRCh38)
                                        1:200584726 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:200615597:T:C
                                        Gene:
                                        KIF14 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.200615598T>C, NC_000001.10:g.200584726T>C, NG_042074.1:g.10137A>G, NM_014875.3:c.1124A>G, NM_014875.2:c.1124A>G, NM_001305792.1:c.-262A>G, XM_011510231.3:c.1124A>G, XM_011510231.2:c.1124A>G, XM_011510231.1:c.1124A>G, XM_011510233.3:c.1040A>G, XM_011510233.2:c.1040A>G, XM_011510233.1:c.1040A>G, XM_011510232.3:c.1124A>G, XM_011510232.2:c.1124A>G, XM_011510232.1:c.1124A>G, XM_011510235.3:c.752A>G, XM_011510235.2:c.752A>G, XM_011510235.1:c.752A>G, XM_017003006.2:c.995A>G, XM_017003006.1:c.995A>G, XM_017003007.2:c.557A>G, XM_017003007.1:c.557A>G, XM_047436184.1:c.1040A>G, XM_047436197.1:c.752A>G, XM_047436181.1:c.1040A>G, XM_047436195.1:c.911A>G, XM_047436190.1:c.1040A>G, XM_047436199.1:c.623A>G, XM_047436198.1:c.752A>G, NP_055690.1:p.Glu375Gly, XP_011508533.1:p.Glu375Gly, XP_011508535.1:p.Glu347Gly, XP_011508534.1:p.Glu375Gly, XP_011508537.1:p.Glu251Gly, XP_016858495.1:p.Glu332Gly, XP_016858496.1:p.Glu186Gly, XP_047292140.1:p.Glu347Gly, XP_047292153.1:p.Glu251Gly, XP_047292137.1:p.Glu347Gly, XP_047292151.1:p.Glu304Gly, XP_047292146.1:p.Glu347Gly, XP_047292155.1:p.Glu208Gly, XP_047292154.1:p.Glu251Gly

                                        20.

                                        rs1475824474 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          1:200589346 (GRCh38)
                                          1:200558474 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:200589345:T:A,NC_000001.11:200589345:T:C
                                          Gene:
                                          KIF14 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.200589346T>A, NC_000001.11:g.200589346T>C, NC_000001.10:g.200558474T>A, NC_000001.10:g.200558474T>C, NG_042074.1:g.36389A>T, NG_042074.1:g.36389A>G, NM_014875.3:c.2985A>T, NM_014875.3:c.2985A>G, NM_014875.2:c.2985A>T, NM_014875.2:c.2985A>G, NM_001305792.1:c.1512A>T, NM_001305792.1:c.1512A>G, XM_011510231.3:c.2985A>T, XM_011510231.3:c.2985A>G, XM_011510231.2:c.2985A>T, XM_011510231.2:c.2985A>G, XM_011510231.1:c.2985A>T, XM_011510231.1:c.2985A>G, XM_011510233.3:c.2901A>T, XM_011510233.3:c.2901A>G, XM_011510233.2:c.2901A>T, XM_011510233.2:c.2901A>G, XM_011510233.1:c.2901A>T, XM_011510233.1:c.2901A>G, XM_011510232.3:c.2985A>T, XM_011510232.3:c.2985A>G, XM_011510232.2:c.2985A>T, XM_011510232.2:c.2985A>G, XM_011510232.1:c.2985A>T, XM_011510232.1:c.2985A>G, XM_011510235.3:c.2613A>T, XM_011510235.3:c.2613A>G, XM_011510235.2:c.2613A>T, XM_011510235.2:c.2613A>G, XM_011510235.1:c.2613A>T, XM_011510235.1:c.2613A>G, XM_017003006.2:c.2856A>T, XM_017003006.2:c.2856A>G, XM_017003006.1:c.2856A>T, XM_017003006.1:c.2856A>G, XM_017003007.2:c.2418A>T, XM_017003007.2:c.2418A>G, XM_017003007.1:c.2418A>T, XM_017003007.1:c.2418A>G, XM_047436184.1:c.2901A>T, XM_047436184.1:c.2901A>G, XM_047436197.1:c.2613A>T, XM_047436197.1:c.2613A>G, XM_047436181.1:c.2901A>T, XM_047436181.1:c.2901A>G, XM_047436195.1:c.2772A>T, XM_047436195.1:c.2772A>G, XM_047436190.1:c.2901A>T, XM_047436190.1:c.2901A>G, XM_047436199.1:c.2484A>T, XM_047436199.1:c.2484A>G, XM_047436198.1:c.2613A>T, XM_047436198.1:c.2613A>G, NP_055690.1:p.Lys995Asn, NP_001292721.1:p.Lys504Asn, XP_011508533.1:p.Lys995Asn, XP_011508535.1:p.Lys967Asn, XP_011508534.1:p.Lys995Asn, XP_011508537.1:p.Lys871Asn, XP_016858495.1:p.Lys952Asn, XP_016858496.1:p.Lys806Asn, XP_047292140.1:p.Lys967Asn, XP_047292153.1:p.Lys871Asn, XP_047292137.1:p.Lys967Asn, XP_047292151.1:p.Lys924Asn, XP_047292146.1:p.Lys967Asn, XP_047292155.1:p.Lys828Asn, XP_047292154.1:p.Lys871Asn

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