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Items: 1 to 20 of 1222

1.

rs1490419706 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    3:44775394 (GRCh38)
    3:44816886 (GRCh37)
    Canonical SPDI:
    NC_000003.12:44775393:A:G
    Gene:
    KIF15 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000014/2 (GnomAD)
    HGVS:
    NC_000003.12:g.44775394A>G, NC_000003.11:g.44816886A>G, NW_009646197.1:g.300744A>G, XM_011533964.4:c.203A>G, XM_011533964.3:c.203A>G, XM_011533964.2:c.203A>G, XM_011533964.1:c.203A>G, XM_017006884.3:c.203A>G, XM_017006884.2:c.203A>G, XM_017006884.1:c.203A>G, NM_020242.3:c.203A>G, NM_020242.2:c.203A>G, XM_017006885.3:c.163A>G, XM_017006885.2:c.163A>G, XM_017006885.1:c.163A>G, XM_017006887.3:c.203A>G, XM_017006887.2:c.203A>G, XM_017006887.1:c.203A>G, XM_017006889.3:c.203A>G, XM_017006889.2:c.203A>G, XM_017006889.1:c.203A>G, XR_001740214.2:n.275A>G, XR_001740214.1:n.355A>G, XR_001740215.2:n.275A>G, XR_001740215.1:n.355A>G, XR_007095708.1:n.275A>G, XR_007095709.1:n.275A>G, XM_047448602.1:c.203A>G, XR_007095710.1:n.275A>G, XM_047448603.1:c.203A>G, XP_011532266.1:p.Lys68Arg, XP_016862373.1:p.Lys68Arg, NP_064627.1:p.Lys68Arg, XP_016862374.1:p.Arg55Gly, XP_016862376.1:p.Lys68Arg, XP_016862378.1:p.Lys68Arg, XP_047304558.1:p.Lys68Arg, XP_047304559.1:p.Lys68Arg

    2.

    rs1489335976 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:44810951 (GRCh38)
      3:44852443 (GRCh37)
      Canonical SPDI:
      NC_000003.12:44810950:A:G
      Gene:
      KIF15 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000011/3 (TOPMED)
      HGVS:
      NC_000003.12:g.44810951A>G, NC_000003.11:g.44852443A>G, NW_009646197.1:g.336301A>G, XM_006713264.4:c.982A>G, XM_006713264.3:c.982A>G, XM_006713264.2:c.982A>G, XM_006713264.1:c.982A>G, XM_017006884.3:c.2146A>G, XM_017006884.2:c.2146A>G, XM_017006884.1:c.2146A>G, NM_020242.3:c.2077A>G, NM_020242.2:c.2077A>G, XM_017006885.3:c.2029A>G, XM_017006885.2:c.2029A>G, XM_017006885.1:c.2029A>G, XM_017006887.3:c.2146A>G, XM_017006887.2:c.2146A>G, XM_017006887.1:c.2146A>G, XM_017006889.3:c.2146A>G, XM_017006889.2:c.2146A>G, XM_017006889.1:c.2146A>G, XR_001740214.2:n.2218A>G, XR_001740214.1:n.2298A>G, XR_001740215.2:n.2218A>G, XR_001740215.1:n.2298A>G, XM_017006890.2:c.1051A>G, XM_017006890.1:c.1051A>G, XM_047448601.1:c.1804A>G, XR_007095708.1:n.2218A>G, XR_007095709.1:n.2218A>G, XM_047448602.1:c.2077A>G, XR_007095710.1:n.2149A>G, XP_006713327.1:p.Ile328Val, XP_016862373.1:p.Ile716Val, NP_064627.1:p.Ile693Val, XP_016862374.1:p.Ile677Val, XP_016862376.1:p.Ile716Val, XP_016862378.1:p.Ile716Val, XP_016862379.1:p.Ile351Val, XP_047304557.1:p.Ile602Val, XP_047304558.1:p.Ile693Val

      3.

      rs1489091931 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        3:44805035 (GRCh38)
        3:44846527 (GRCh37)
        Canonical SPDI:
        NC_000003.12:44805034:GG:G
        Gene:
        KIF15 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000003.12:g.44805036del, NC_000003.11:g.44846528del, NW_009646197.1:g.330386del, XM_011533964.4:c.1697del, XM_011533964.3:c.1697del, XM_011533964.2:c.1697del, XM_011533964.1:c.1697del, XM_006713264.4:c.602del, XM_006713264.3:c.602del, XM_006713264.2:c.602del, XM_006713264.1:c.602del, XM_017006884.3:c.1697del, XM_017006884.2:c.1697del, XM_017006884.1:c.1697del, NM_020242.3:c.1697del, NM_020242.2:c.1697del, XM_017006885.3:c.1580del, XM_017006885.2:c.1580del, XM_017006885.1:c.1580del, XM_017006887.3:c.1697del, XM_017006887.2:c.1697del, XM_017006887.1:c.1697del, XM_017006889.3:c.1697del, XM_017006889.2:c.1697del, XM_017006889.1:c.1697del, XR_001740214.2:n.1769del, XR_001740214.1:n.1849del, XR_001740215.2:n.1769del, XR_001740215.1:n.1849del, XM_017006890.2:c.602del, XM_017006890.1:c.602del, XM_047448601.1:c.1355del, XR_007095708.1:n.1769del, XR_007095709.1:n.1769del, XM_047448602.1:c.1697del, XR_007095710.1:n.1769del, XM_047448603.1:c.1697del, XP_011532266.1:p.Gly566fs, XP_006713327.1:p.Gly201fs, XP_016862373.1:p.Gly566fs, NP_064627.1:p.Gly566fs, XP_016862374.1:p.Gly527fs, XP_016862376.1:p.Gly566fs, XP_016862378.1:p.Gly566fs, XP_016862379.1:p.Gly201fs, XP_047304557.1:p.Gly452fs, XP_047304558.1:p.Gly566fs, XP_047304559.1:p.Gly566fs

        4.

        rs1489060129 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:44775348 (GRCh38)
          3:44816840 (GRCh37)
          Canonical SPDI:
          NC_000003.12:44775347:G:A
          Gene:
          KIF15 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000012/3 (GnomAD_exomes)
          A=0.000015/4 (TOPMED)
          A=0.000021/3 (GnomAD)
          HGVS:
          NC_000003.12:g.44775348G>A, NC_000003.11:g.44816840G>A, NW_009646197.1:g.300698G>A, XM_011533964.4:c.157G>A, XM_011533964.3:c.157G>A, XM_011533964.2:c.157G>A, XM_011533964.1:c.157G>A, XM_017006884.3:c.157G>A, XM_017006884.2:c.157G>A, XM_017006884.1:c.157G>A, NM_020242.3:c.157G>A, NM_020242.2:c.157G>A, XM_017006885.3:c.117G>A, XM_017006885.2:c.117G>A, XM_017006885.1:c.117G>A, XM_017006887.3:c.157G>A, XM_017006887.2:c.157G>A, XM_017006887.1:c.157G>A, XM_017006889.3:c.157G>A, XM_017006889.2:c.157G>A, XM_017006889.1:c.157G>A, XR_001740214.2:n.229G>A, XR_001740214.1:n.309G>A, XR_001740215.2:n.229G>A, XR_001740215.1:n.309G>A, XR_007095708.1:n.229G>A, XR_007095709.1:n.229G>A, XM_047448602.1:c.157G>A, XR_007095710.1:n.229G>A, XM_047448603.1:c.157G>A, XP_011532266.1:p.Val53Met, XP_016862373.1:p.Val53Met, NP_064627.1:p.Val53Met, XP_016862376.1:p.Val53Met, XP_016862378.1:p.Val53Met, XP_047304558.1:p.Val53Met, XP_047304559.1:p.Val53Met

          5.

          rs1488659175 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            3:44805070 (GRCh38)
            3:44846562 (GRCh37)
            Canonical SPDI:
            NC_000003.12:44805069:G:A,NC_000003.12:44805069:G:T
            Gene:
            KIF15 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000003.12:g.44805070G>A, NC_000003.12:g.44805070G>T, NC_000003.11:g.44846562G>A, NC_000003.11:g.44846562G>T, NW_009646197.1:g.330420G>A, NW_009646197.1:g.330420G>T, XM_011533964.4:c.1731G>A, XM_011533964.4:c.1731G>T, XM_011533964.3:c.1731G>A, XM_011533964.3:c.1731G>T, XM_011533964.2:c.1731G>A, XM_011533964.2:c.1731G>T, XM_011533964.1:c.1731G>A, XM_011533964.1:c.1731G>T, XM_006713264.4:c.636G>A, XM_006713264.4:c.636G>T, XM_006713264.3:c.636G>A, XM_006713264.3:c.636G>T, XM_006713264.2:c.636G>A, XM_006713264.2:c.636G>T, XM_006713264.1:c.636G>A, XM_006713264.1:c.636G>T, XM_017006884.3:c.1731G>A, XM_017006884.3:c.1731G>T, XM_017006884.2:c.1731G>A, XM_017006884.2:c.1731G>T, XM_017006884.1:c.1731G>A, XM_017006884.1:c.1731G>T, NM_020242.3:c.1731G>A, NM_020242.3:c.1731G>T, NM_020242.2:c.1731G>A, NM_020242.2:c.1731G>T, XM_017006885.3:c.1614G>A, XM_017006885.3:c.1614G>T, XM_017006885.2:c.1614G>A, XM_017006885.2:c.1614G>T, XM_017006885.1:c.1614G>A, XM_017006885.1:c.1614G>T, XM_017006887.3:c.1731G>A, XM_017006887.3:c.1731G>T, XM_017006887.2:c.1731G>A, XM_017006887.2:c.1731G>T, XM_017006887.1:c.1731G>A, XM_017006887.1:c.1731G>T, XM_017006889.3:c.1731G>A, XM_017006889.3:c.1731G>T, XM_017006889.2:c.1731G>A, XM_017006889.2:c.1731G>T, XM_017006889.1:c.1731G>A, XM_017006889.1:c.1731G>T, XM_017006890.2:c.636G>A, XM_017006890.2:c.636G>T, XM_017006890.1:c.636G>A, XM_017006890.1:c.636G>T, XR_001740215.2:n.1803G>A, XR_001740215.2:n.1803G>T, XR_001740215.1:n.1883G>A, XR_001740215.1:n.1883G>T, XR_001740214.2:n.1803G>A, XR_001740214.2:n.1803G>T, XR_001740214.1:n.1883G>A, XR_001740214.1:n.1883G>T, XR_007095708.1:n.1803G>A, XR_007095708.1:n.1803G>T, XM_047448601.1:c.1389G>A, XM_047448601.1:c.1389G>T, XR_007095709.1:n.1803G>A, XR_007095709.1:n.1803G>T, XM_047448602.1:c.1731G>A, XM_047448602.1:c.1731G>T, XR_007095710.1:n.1803G>A, XR_007095710.1:n.1803G>T, XM_047448603.1:c.1731G>A, XM_047448603.1:c.1731G>T, XP_011532266.1:p.Leu577Phe, XP_006713327.1:p.Leu212Phe, XP_016862373.1:p.Leu577Phe, NP_064627.1:p.Leu577Phe, XP_016862374.1:p.Leu538Phe, XP_016862376.1:p.Leu577Phe, XP_016862378.1:p.Leu577Phe, XP_016862379.1:p.Leu212Phe, XP_047304557.1:p.Leu463Phe, XP_047304558.1:p.Leu577Phe, XP_047304559.1:p.Leu577Phe

            6.

            rs1487182365 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              3:44826047 (GRCh38)
              3:44867539 (GRCh37)
              Canonical SPDI:
              NC_000003.12:44826046:A:G
              Gene:
              KIF15 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000031/1 (ALFA)
              G=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.44826047A>G, NC_000003.11:g.44867539A>G, NW_009646197.1:g.351397A>G, XM_011533964.4:c.2360A>G, XM_011533964.3:c.2360A>G, XM_011533964.2:c.2360A>G, XM_011533964.1:c.2360A>G, XM_006713264.4:c.1463A>G, XM_006713264.3:c.1463A>G, XM_006713264.2:c.1463A>G, XM_006713264.1:c.1463A>G, XM_017006884.3:c.2627A>G, XM_017006884.2:c.2627A>G, XM_017006884.1:c.2627A>G, NM_020242.3:c.2558A>G, NM_020242.2:c.2558A>G, XM_017006885.3:c.2510A>G, XM_017006885.2:c.2510A>G, XM_017006885.1:c.2510A>G, XM_017006887.3:c.2627A>G, XM_017006887.2:c.2627A>G, XM_017006887.1:c.2627A>G, XM_017006889.3:c.2627A>G, XM_017006889.2:c.2627A>G, XM_017006889.1:c.2627A>G, XR_001740214.2:n.2699A>G, XR_001740214.1:n.2779A>G, XR_001740215.2:n.2699A>G, XR_001740215.1:n.2779A>G, XM_017006890.2:c.1532A>G, XM_017006890.1:c.1532A>G, XM_047448601.1:c.2285A>G, XR_007095708.1:n.2699A>G, XR_007095709.1:n.2699A>G, XM_047448602.1:c.2558A>G, XR_007095710.1:n.2630A>G, XM_047448603.1:c.2360A>G, XP_011532266.1:p.Asn787Ser, XP_006713327.1:p.Asn488Ser, XP_016862373.1:p.Asn876Ser, NP_064627.1:p.Asn853Ser, XP_016862374.1:p.Asn837Ser, XP_016862376.1:p.Asn876Ser, XP_016862378.1:p.Asn876Ser, XP_016862379.1:p.Asn511Ser, XP_047304557.1:p.Asn762Ser, XP_047304558.1:p.Asn853Ser, XP_047304559.1:p.Asn787Ser

              7.

              rs1486522930 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:44843127 (GRCh38)
                3:44884619 (GRCh37)
                Canonical SPDI:
                NC_000003.12:44843126:G:A
                Gene:
                KIF15 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.44843127G>A, NC_000003.11:g.44884619G>A, NW_009646197.1:g.368477G>A, XM_011533964.4:c.3390G>A, XM_011533964.3:c.3390G>A, XM_011533964.2:c.3390G>A, XM_011533964.1:c.3390G>A, XM_006713264.4:c.2493G>A, XM_006713264.3:c.2493G>A, XM_006713264.2:c.2493G>A, XM_006713264.1:c.2493G>A, XM_017006884.3:c.3657G>A, XM_017006884.2:c.3657G>A, XM_017006884.1:c.3657G>A, NM_020242.3:c.3588G>A, NM_020242.2:c.3588G>A, XM_017006885.3:c.3540G>A, XM_017006885.2:c.3540G>A, XM_017006885.1:c.3540G>A, XM_017006887.3:c.3657G>A, XM_017006887.2:c.3657G>A, XM_017006887.1:c.3657G>A, XR_001740214.2:n.3729G>A, XR_001740214.1:n.3809G>A, XM_017006890.2:c.2562G>A, XM_017006890.1:c.2562G>A, XM_047448601.1:c.3315G>A, XR_007095709.1:n.3729G>A, XM_047448602.1:c.3588G>A, XR_007095710.1:n.3660G>A, XR_007095708.1:n.3729G>A, XM_047448603.1:c.3390G>A

                8.

                rs1485821632 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:44812221 (GRCh38)
                  3:44853713 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:44812220:G:A
                  Gene:
                  KIF15 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (GnomAD_exomes)
                  A=0.000014/2 (GnomAD)
                  A=0.000019/5 (TOPMED)
                  HGVS:
                  NC_000003.12:g.44812221G>A, NC_000003.11:g.44853713G>A, NW_009646197.1:g.337571G>A, XM_011533964.4:c.2011G>A, XM_011533964.3:c.2011G>A, XM_011533964.2:c.2011G>A, XM_011533964.1:c.2011G>A, XM_006713264.4:c.1114G>A, XM_006713264.3:c.1114G>A, XM_006713264.2:c.1114G>A, XM_006713264.1:c.1114G>A, XM_017006884.3:c.2278G>A, XM_017006884.2:c.2278G>A, XM_017006884.1:c.2278G>A, NM_020242.3:c.2209G>A, NM_020242.2:c.2209G>A, XM_017006885.3:c.2161G>A, XM_017006885.2:c.2161G>A, XM_017006885.1:c.2161G>A, XM_017006887.3:c.2278G>A, XM_017006887.2:c.2278G>A, XM_017006887.1:c.2278G>A, XM_017006889.3:c.2278G>A, XM_017006889.2:c.2278G>A, XM_017006889.1:c.2278G>A, XR_001740214.2:n.2350G>A, XR_001740214.1:n.2430G>A, XR_001740215.2:n.2350G>A, XR_001740215.1:n.2430G>A, XM_017006890.2:c.1183G>A, XM_017006890.1:c.1183G>A, XM_047448601.1:c.1936G>A, XR_007095708.1:n.2350G>A, XR_007095709.1:n.2350G>A, XM_047448602.1:c.2209G>A, XR_007095710.1:n.2281G>A, XM_047448603.1:c.2011G>A, XP_011532266.1:p.Glu671Lys, XP_006713327.1:p.Glu372Lys, XP_016862373.1:p.Glu760Lys, NP_064627.1:p.Glu737Lys, XP_016862374.1:p.Glu721Lys, XP_016862376.1:p.Glu760Lys, XP_016862378.1:p.Glu760Lys, XP_016862379.1:p.Glu395Lys, XP_047304557.1:p.Glu646Lys, XP_047304558.1:p.Glu737Lys, XP_047304559.1:p.Glu671Lys

                  9.

                  rs1485801257 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    3:44786402 (GRCh38)
                    3:44827894 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:44786401:CT:
                    Gene:
                    KIF15 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant
                    HGVS:
                    NC_000003.12:g.44786402_44786403del, NC_000003.11:g.44827894_44827895del, NW_009646197.1:g.311752_311753del, XM_011533964.4:c.467_468del, XM_011533964.3:c.467_468del, XM_011533964.2:c.467_468del, XM_011533964.1:c.467_468del, XM_017006884.3:c.467_468del, XM_017006884.2:c.467_468del, XM_017006884.1:c.467_468del, NM_020242.3:c.467_468del, NM_020242.2:c.467_468del, XM_017006885.3:c.350_351del, XM_017006885.2:c.350_351del, XM_017006885.1:c.350_351del, XM_017006887.3:c.467_468del, XM_017006887.2:c.467_468del, XM_017006887.1:c.467_468del, XM_017006889.3:c.467_468del, XM_017006889.2:c.467_468del, XM_017006889.1:c.467_468del, XR_001740214.2:n.539_540del, XR_001740214.1:n.619_620del, XR_001740215.2:n.539_540del, XR_001740215.1:n.619_620del, XR_007095708.1:n.539_540del, XM_047448601.1:c.125_126del, XR_007095709.1:n.539_540del, XM_047448602.1:c.467_468del, XR_007095710.1:n.539_540del, XM_047448603.1:c.467_468del, XP_011532266.1:p.Ala156fs, XP_016862373.1:p.Ala156fs, NP_064627.1:p.Ala156fs, XP_016862374.1:p.Ala117fs, XP_016862376.1:p.Ala156fs, XP_016862378.1:p.Ala156fs, XP_047304557.1:p.Ala42fs, XP_047304558.1:p.Ala156fs, XP_047304559.1:p.Ala156fs

                    10.

                    rs1485352648 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:44775273 (GRCh38)
                      3:44816765 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:44775272:A:G
                      Gene:
                      KIF15 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000028/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000003.12:g.44775273A>G, NC_000003.11:g.44816765A>G, NW_009646197.1:g.300623A>G, XM_011533964.4:c.82A>G, XM_011533964.3:c.82A>G, XM_011533964.2:c.82A>G, XM_011533964.1:c.82A>G, XM_017006884.3:c.82A>G, XM_017006884.2:c.82A>G, XM_017006884.1:c.82A>G, NM_020242.3:c.82A>G, NM_020242.2:c.82A>G, XM_017006885.3:c.42A>G, XM_017006885.2:c.42A>G, XM_017006885.1:c.42A>G, XM_017006887.3:c.82A>G, XM_017006887.2:c.82A>G, XM_017006887.1:c.82A>G, XM_017006889.3:c.82A>G, XM_017006889.2:c.82A>G, XM_017006889.1:c.82A>G, XR_001740214.2:n.154A>G, XR_001740214.1:n.234A>G, XR_001740215.2:n.154A>G, XR_001740215.1:n.234A>G, XR_007095708.1:n.154A>G, XR_007095709.1:n.154A>G, XM_047448602.1:c.82A>G, XR_007095710.1:n.154A>G, XM_047448603.1:c.82A>G, XP_011532266.1:p.Lys28Glu, XP_016862373.1:p.Lys28Glu, NP_064627.1:p.Lys28Glu, XP_016862376.1:p.Lys28Glu, XP_016862378.1:p.Lys28Glu, XP_047304558.1:p.Lys28Glu, XP_047304559.1:p.Lys28Glu

                      11.

                      rs1485235995 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:44814983 (GRCh38)
                        3:44856475 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:44814982:T:C
                        Gene:
                        KIF15 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000003.12:g.44814983T>C, NC_000003.11:g.44856475T>C, NW_009646197.1:g.340333T>C, XM_011533964.4:c.2258T>C, XM_011533964.3:c.2258T>C, XM_011533964.2:c.2258T>C, XM_011533964.1:c.2258T>C, XM_006713264.4:c.1361T>C, XM_006713264.3:c.1361T>C, XM_006713264.2:c.1361T>C, XM_006713264.1:c.1361T>C, XM_017006884.3:c.2525T>C, XM_017006884.2:c.2525T>C, XM_017006884.1:c.2525T>C, NM_020242.3:c.2456T>C, NM_020242.2:c.2456T>C, XM_017006885.3:c.2408T>C, XM_017006885.2:c.2408T>C, XM_017006885.1:c.2408T>C, XM_017006887.3:c.2525T>C, XM_017006887.2:c.2525T>C, XM_017006887.1:c.2525T>C, XM_017006889.3:c.2525T>C, XM_017006889.2:c.2525T>C, XM_017006889.1:c.2525T>C, XR_001740214.2:n.2597T>C, XR_001740214.1:n.2677T>C, XR_001740215.2:n.2597T>C, XR_001740215.1:n.2677T>C, XM_017006890.2:c.1430T>C, XM_017006890.1:c.1430T>C, XM_047448601.1:c.2183T>C, XR_007095708.1:n.2597T>C, XR_007095709.1:n.2597T>C, XM_047448602.1:c.2456T>C, XR_007095710.1:n.2528T>C, XM_047448603.1:c.2258T>C, XP_011532266.1:p.Leu753Ser, XP_006713327.1:p.Leu454Ser, XP_016862373.1:p.Leu842Ser, NP_064627.1:p.Leu819Ser, XP_016862374.1:p.Leu803Ser, XP_016862376.1:p.Leu842Ser, XP_016862378.1:p.Leu842Ser, XP_016862379.1:p.Leu477Ser, XP_047304557.1:p.Leu728Ser, XP_047304558.1:p.Leu819Ser, XP_047304559.1:p.Leu753Ser

                        12.

                        rs1484507655 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          3:44794341 (GRCh38)
                          3:44835833 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:44794340:A:C
                          Gene:
                          KIF15 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000003.12:g.44794341A>C, NC_000003.11:g.44835833A>C, NW_009646197.1:g.319691A>C, XM_011533964.4:c.764A>C, XM_011533964.3:c.764A>C, XM_011533964.2:c.764A>C, XM_011533964.1:c.764A>C, XM_017006884.3:c.764A>C, XM_017006884.2:c.764A>C, XM_017006884.1:c.764A>C, NM_020242.3:c.764A>C, NM_020242.2:c.764A>C, XM_017006885.3:c.647A>C, XM_017006885.2:c.647A>C, XM_017006885.1:c.647A>C, XM_017006887.3:c.764A>C, XM_017006887.2:c.764A>C, XM_017006887.1:c.764A>C, XM_017006889.3:c.764A>C, XM_017006889.2:c.764A>C, XM_017006889.1:c.764A>C, XR_001740214.2:n.836A>C, XR_001740214.1:n.916A>C, XR_001740215.2:n.836A>C, XR_001740215.1:n.916A>C, XR_007095708.1:n.836A>C, XM_047448601.1:c.422A>C, XR_007095709.1:n.836A>C, XM_047448602.1:c.764A>C, XR_007095710.1:n.836A>C, XM_047448603.1:c.764A>C, XP_011532266.1:p.Asn255Thr, XP_016862373.1:p.Asn255Thr, NP_064627.1:p.Asn255Thr, XP_016862374.1:p.Asn216Thr, XP_016862376.1:p.Asn255Thr, XP_016862378.1:p.Asn255Thr, XP_047304557.1:p.Asn141Thr, XP_047304558.1:p.Asn255Thr, XP_047304559.1:p.Asn255Thr

                          13.

                          rs1484232831 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:44841115 (GRCh38)
                            3:44882607 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:44841114:A:G
                            Gene:
                            KIF15 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000019/5 (TOPMED)
                            HGVS:
                            NC_000003.12:g.44841115A>G, NC_000003.11:g.44882607A>G, NW_009646197.1:g.366465A>G, XM_011533964.4:c.3264A>G, XM_011533964.3:c.3264A>G, XM_011533964.2:c.3264A>G, XM_011533964.1:c.3264A>G, XM_006713264.4:c.2367A>G, XM_006713264.3:c.2367A>G, XM_006713264.2:c.2367A>G, XM_006713264.1:c.2367A>G, XM_017006884.3:c.3531A>G, XM_017006884.2:c.3531A>G, XM_017006884.1:c.3531A>G, NM_020242.3:c.3462A>G, NM_020242.2:c.3462A>G, XM_017006885.3:c.3414A>G, XM_017006885.2:c.3414A>G, XM_017006885.1:c.3414A>G, XM_017006887.3:c.3531A>G, XM_017006887.2:c.3531A>G, XM_017006887.1:c.3531A>G, XM_017006889.3:c.3531A>G, XM_017006889.2:c.3531A>G, XM_017006889.1:c.3531A>G, XR_001740214.2:n.3603A>G, XR_001740214.1:n.3683A>G, XM_017006890.2:c.2436A>G, XM_017006890.1:c.2436A>G, XM_047448601.1:c.3189A>G, XR_007095709.1:n.3603A>G, XM_047448602.1:c.3462A>G, XR_007095710.1:n.3534A>G, XR_007095708.1:n.3603A>G, XM_047448603.1:c.3264A>G

                            14.

                            rs1483054622 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:44840441 (GRCh38)
                              3:44881933 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:44840440:T:C
                              Gene:
                              KIF15 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000003.12:g.44840441T>C, NC_000003.11:g.44881933T>C, NW_009646197.1:g.365791T>C, XM_011533964.4:c.3207T>C, XM_011533964.3:c.3207T>C, XM_011533964.2:c.3207T>C, XM_011533964.1:c.3207T>C, XM_006713264.4:c.2310T>C, XM_006713264.3:c.2310T>C, XM_006713264.2:c.2310T>C, XM_006713264.1:c.2310T>C, XM_017006884.3:c.3474T>C, XM_017006884.2:c.3474T>C, XM_017006884.1:c.3474T>C, NM_020242.3:c.3405T>C, NM_020242.2:c.3405T>C, XM_017006885.3:c.3357T>C, XM_017006885.2:c.3357T>C, XM_017006885.1:c.3357T>C, XM_017006887.3:c.3474T>C, XM_017006887.2:c.3474T>C, XM_017006887.1:c.3474T>C, XM_017006889.3:c.3474T>C, XM_017006889.2:c.3474T>C, XM_017006889.1:c.3474T>C, XR_001740214.2:n.3546T>C, XR_001740214.1:n.3626T>C, XM_017006890.2:c.2379T>C, XM_017006890.1:c.2379T>C, XM_047448601.1:c.3132T>C, XR_007095709.1:n.3546T>C, XM_047448602.1:c.3405T>C, XR_007095710.1:n.3477T>C, XR_007095708.1:n.3546T>C, XM_047448603.1:c.3207T>C

                              15.

                              rs1482767761 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:44827516 (GRCh38)
                                3:44869008 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:44827515:G:A
                                Gene:
                                KIF15 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.44827516G>A, NC_000003.11:g.44869008G>A, NW_009646197.1:g.352866G>A, XM_011533964.4:c.2646G>A, XM_011533964.3:c.2646G>A, XM_011533964.2:c.2646G>A, XM_011533964.1:c.2646G>A, XM_006713264.4:c.1749G>A, XM_006713264.3:c.1749G>A, XM_006713264.2:c.1749G>A, XM_006713264.1:c.1749G>A, XM_017006884.3:c.2913G>A, XM_017006884.2:c.2913G>A, XM_017006884.1:c.2913G>A, NM_020242.3:c.2844G>A, NM_020242.2:c.2844G>A, XM_017006885.3:c.2796G>A, XM_017006885.2:c.2796G>A, XM_017006885.1:c.2796G>A, XM_017006887.3:c.2913G>A, XM_017006887.2:c.2913G>A, XM_017006887.1:c.2913G>A, XM_017006889.3:c.2913G>A, XM_017006889.2:c.2913G>A, XM_017006889.1:c.2913G>A, XR_001740214.2:n.2985G>A, XR_001740214.1:n.3065G>A, XR_001740215.2:n.2985G>A, XR_001740215.1:n.3065G>A, XM_017006890.2:c.1818G>A, XM_017006890.1:c.1818G>A, XM_047448601.1:c.2571G>A, XR_007095708.1:n.2985G>A, XR_007095709.1:n.2985G>A, XM_047448602.1:c.2844G>A, XR_007095710.1:n.2916G>A, XM_047448603.1:c.2646G>A

                                16.

                                rs1482703687 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  3:44800325 (GRCh38)
                                  3:44841817 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:44800324:T:
                                  Gene:
                                  KIF15 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000003.12:g.44800325del, NC_000003.11:g.44841817del, NW_009646197.1:g.325675del, XM_011533964.4:c.1110del, XM_011533964.3:c.1110del, XM_011533964.2:c.1110del, XM_011533964.1:c.1110del, XM_006713264.4:c.15del, XM_006713264.3:c.15del, XM_006713264.2:c.15del, XM_006713264.1:c.15del, XM_017006884.3:c.1110del, XM_017006884.2:c.1110del, XM_017006884.1:c.1110del, NM_020242.3:c.1110del, NM_020242.2:c.1110del, XM_017006885.3:c.993del, XM_017006885.2:c.993del, XM_017006885.1:c.993del, XM_017006887.3:c.1110del, XM_017006887.2:c.1110del, XM_017006887.1:c.1110del, XM_017006889.3:c.1110del, XM_017006889.2:c.1110del, XM_017006889.1:c.1110del, XR_001740214.2:n.1182del, XR_001740214.1:n.1262del, XR_001740215.2:n.1182del, XR_001740215.1:n.1262del, XM_017006890.2:c.15del, XM_017006890.1:c.15del, XM_047448601.1:c.768del, XR_007095708.1:n.1182del, XR_007095709.1:n.1182del, XM_047448602.1:c.1110del, XR_007095710.1:n.1182del, XM_047448603.1:c.1110del, XP_011532266.1:p.Asn370fs, XP_006713327.1:p.Asn5fs, XP_016862373.1:p.Asn370fs, NP_064627.1:p.Asn370fs, XP_016862374.1:p.Asn331fs, XP_016862376.1:p.Asn370fs, XP_016862378.1:p.Asn370fs, XP_016862379.1:p.Asn5fs, XP_047304557.1:p.Asn256fs, XP_047304558.1:p.Asn370fs, XP_047304559.1:p.Asn370fs

                                  17.

                                  rs1481030982 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:44794275 (GRCh38)
                                    3:44835767 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:44794274:C:T
                                    Gene:
                                    KIF15 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_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_000003.12:g.44794275C>T, NC_000003.11:g.44835767C>T, NW_009646197.1:g.319625C>T, XM_011533964.4:c.698C>T, XM_011533964.3:c.698C>T, XM_011533964.2:c.698C>T, XM_011533964.1:c.698C>T, XM_017006884.3:c.698C>T, XM_017006884.2:c.698C>T, XM_017006884.1:c.698C>T, NM_020242.3:c.698C>T, NM_020242.2:c.698C>T, XM_017006885.3:c.581C>T, XM_017006885.2:c.581C>T, XM_017006885.1:c.581C>T, XM_017006887.3:c.698C>T, XM_017006887.2:c.698C>T, XM_017006887.1:c.698C>T, XM_017006889.3:c.698C>T, XM_017006889.2:c.698C>T, XM_017006889.1:c.698C>T, XR_001740214.2:n.770C>T, XR_001740214.1:n.850C>T, XR_001740215.2:n.770C>T, XR_001740215.1:n.850C>T, XR_007095708.1:n.770C>T, XM_047448601.1:c.356C>T, XR_007095709.1:n.770C>T, XM_047448602.1:c.698C>T, XR_007095710.1:n.770C>T, XM_047448603.1:c.698C>T, XP_011532266.1:p.Ser233Leu, XP_016862373.1:p.Ser233Leu, NP_064627.1:p.Ser233Leu, XP_016862374.1:p.Ser194Leu, XP_016862376.1:p.Ser233Leu, XP_016862378.1:p.Ser233Leu, XP_047304557.1:p.Ser119Leu, XP_047304558.1:p.Ser233Leu, XP_047304559.1:p.Ser233Leu

                                    18.

                                    rs1480864215 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      3:44797854 (GRCh38)
                                      3:44839346 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:44797853:C:A
                                      Gene:
                                      KIF15 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.000035/1 (TOMMO)
                                      A=0.000124/15 (ExAC)
                                      HGVS:

                                      19.

                                      rs1480656472 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        3:44784871 (GRCh38)
                                        3:44826363 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:44784870:C:T
                                        Gene:
                                        KIF15 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.44784871C>T, NC_000003.11:g.44826363C>T, NW_009646197.1:g.310221C>T, XM_011533964.4:c.388C>T, XM_011533964.3:c.388C>T, XM_011533964.2:c.388C>T, XM_011533964.1:c.388C>T, XM_017006884.3:c.388C>T, XM_017006884.2:c.388C>T, XM_017006884.1:c.388C>T, NM_020242.3:c.388C>T, NM_020242.2:c.388C>T, XM_017006885.3:c.271C>T, XM_017006885.2:c.271C>T, XM_017006885.1:c.271C>T, XM_017006887.3:c.388C>T, XM_017006887.2:c.388C>T, XM_017006887.1:c.388C>T, XM_017006889.3:c.388C>T, XM_017006889.2:c.388C>T, XM_017006889.1:c.388C>T, XR_001740214.2:n.460C>T, XR_001740214.1:n.540C>T, XR_001740215.2:n.460C>T, XR_001740215.1:n.540C>T, XR_007095708.1:n.460C>T, XM_047448601.1:c.46C>T, XR_007095709.1:n.460C>T, XM_047448602.1:c.388C>T, XR_007095710.1:n.460C>T, XM_047448603.1:c.388C>T, XP_011532266.1:p.His130Tyr, XP_016862373.1:p.His130Tyr, NP_064627.1:p.His130Tyr, XP_016862374.1:p.His91Tyr, XP_016862376.1:p.His130Tyr, XP_016862378.1:p.His130Tyr, XP_047304557.1:p.His16Tyr, XP_047304558.1:p.His130Tyr, XP_047304559.1:p.His130Tyr

                                        20.

                                        rs1479765360 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          3:44838350 (GRCh38)
                                          3:44879842 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:44838349:T:C
                                          Gene:
                                          KIF15 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:
                                          NC_000003.12:g.44838350T>C, NC_000003.11:g.44879842T>C, NW_009646197.1:g.363700T>C, XM_011533964.4:c.3049T>C, XM_011533964.3:c.3049T>C, XM_011533964.2:c.3049T>C, XM_011533964.1:c.3049T>C, XM_006713264.4:c.2152T>C, XM_006713264.3:c.2152T>C, XM_006713264.2:c.2152T>C, XM_006713264.1:c.2152T>C, XM_017006884.3:c.3316T>C, XM_017006884.2:c.3316T>C, XM_017006884.1:c.3316T>C, NM_020242.3:c.3247T>C, NM_020242.2:c.3247T>C, XM_017006885.3:c.3199T>C, XM_017006885.2:c.3199T>C, XM_017006885.1:c.3199T>C, XM_017006887.3:c.3316T>C, XM_017006887.2:c.3316T>C, XM_017006887.1:c.3316T>C, XM_017006889.3:c.3316T>C, XM_017006889.2:c.3316T>C, XM_017006889.1:c.3316T>C, XR_001740214.2:n.3388T>C, XR_001740214.1:n.3468T>C, XM_017006890.2:c.2221T>C, XM_017006890.1:c.2221T>C, XM_047448601.1:c.2974T>C, XR_007095709.1:n.3388T>C, XM_047448602.1:c.3247T>C, XR_007095710.1:n.3319T>C, XR_007095708.1:n.3388T>C, XM_047448603.1:c.3049T>C, XP_011532266.1:p.Ser1017Pro, XP_006713327.1:p.Ser718Pro, XP_016862373.1:p.Ser1106Pro, NP_064627.1:p.Ser1083Pro, XP_016862374.1:p.Ser1067Pro, XP_016862376.1:p.Ser1106Pro, XP_016862378.1:p.Ser1106Pro, XP_016862379.1:p.Ser741Pro, XP_047304557.1:p.Ser992Pro, XP_047304558.1:p.Ser1083Pro, XP_047304559.1:p.Ser1017Pro

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