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Items: 1 to 20 of 797

1.

rs1490379083 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:57798138 (GRCh38)
    16:57832050 (GRCh37)
    Canonical SPDI:
    NC_000016.10:57798137:C:T
    Gene:
    KIFC3 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    C=0./0 (SGDP_PRJ)
    T=0.000033/5 (GnomAD_exomes)
    HGVS:
    NC_000016.10:g.57798138C>T, NC_000016.9:g.57832050C>T, NW_003871085.1:g.58029C>T, NM_005550.4:c.106G>A, NM_005550.3:c.106G>A, XM_006721188.2:c.253G>A, XM_006721188.1:c.253G>A, XM_017023221.2:c.253G>A, XM_017023221.1:c.253G>A, XM_005255937.2:c.253G>A, XM_005255937.1:c.253G>A, XM_011523077.2:c.190G>A, XM_011523077.1:c.190G>A, NM_001318710.2:c.172G>A, NM_001318710.1:c.172G>A, XM_011523076.2:c.253G>A, XM_011523076.1:c.253G>A, NM_001130100.2:c.106G>A, NM_001130100.1:c.106G>A, XM_011523075.2:c.253G>A, XM_011523075.1:c.253G>A, XM_047434080.1:c.106G>A, XM_047434081.1:c.106G>A, XM_047434078.1:c.106G>A, XM_047434079.1:c.106G>A, XM_047434084.1:c.106G>A, XM_047434083.1:c.190G>A, XM_047434085.1:c.253G>A, XM_047434086.1:c.106G>A, NP_005541.3:p.Ala36Thr, XP_006721251.1:p.Ala85Thr, XP_016878710.1:p.Ala85Thr, XP_005255994.1:p.Ala85Thr, XP_011521379.1:p.Ala64Thr, NP_001305639.1:p.Ala58Thr, XP_011521378.1:p.Ala85Thr, NP_001123572.1:p.Ala36Thr, XP_011521377.1:p.Ala85Thr, XP_047290036.1:p.Ala36Thr, XP_047290037.1:p.Ala36Thr, XP_047290034.1:p.Ala36Thr, XP_047290035.1:p.Ala36Thr, XP_047290040.1:p.Ala36Thr, XP_047290039.1:p.Ala64Thr, XP_047290041.1:p.Ala85Thr, XP_047290042.1:p.Ala36Thr

    2.

    rs1489525012 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:57862825 (GRCh38)
      16:57896729 (GRCh37)
      Canonical SPDI:
      NC_000016.10:57862824:C:T
      Gene:
      KIFC3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000223/2 (ALFA)
      T=0.000015/2 (GnomAD_exomes)
      HGVS:

      3.

      rs1488975512 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        16:57798083 (GRCh38)
        16:57831995 (GRCh37)
        Canonical SPDI:
        NC_000016.10:57798082:C:G
        Gene:
        KIFC3 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000071/1 (ALFA)
        G=0.000021/3 (GnomAD)
        G=0.000034/9 (TOPMED)
        HGVS:
        NC_000016.10:g.57798083C>G, NC_000016.9:g.57831995C>G, NW_003871085.1:g.57974C>G, NM_005550.4:c.161G>C, NM_005550.3:c.161G>C, XM_006721188.2:c.308G>C, XM_006721188.1:c.308G>C, XM_017023221.2:c.308G>C, XM_017023221.1:c.308G>C, XM_005255937.2:c.308G>C, XM_005255937.1:c.308G>C, XM_011523077.2:c.245G>C, XM_011523077.1:c.245G>C, NM_001318710.2:c.227G>C, NM_001318710.1:c.227G>C, XM_011523076.2:c.308G>C, XM_011523076.1:c.308G>C, NM_001130100.2:c.161G>C, NM_001130100.1:c.161G>C, XM_011523075.2:c.308G>C, XM_011523075.1:c.308G>C, XM_047434080.1:c.161G>C, XM_047434081.1:c.161G>C, XM_047434078.1:c.161G>C, XM_047434079.1:c.161G>C, XM_047434084.1:c.161G>C, XM_047434083.1:c.245G>C, XM_047434085.1:c.308G>C, XM_047434086.1:c.161G>C, XM_047434088.1:c.-364G>C, NP_005541.3:p.Arg54Thr, XP_006721251.1:p.Arg103Thr, XP_016878710.1:p.Arg103Thr, XP_005255994.1:p.Arg103Thr, XP_011521379.1:p.Arg82Thr, NP_001305639.1:p.Arg76Thr, XP_011521378.1:p.Arg103Thr, NP_001123572.1:p.Arg54Thr, XP_011521377.1:p.Arg103Thr, XP_047290036.1:p.Arg54Thr, XP_047290037.1:p.Arg54Thr, XP_047290034.1:p.Arg54Thr, XP_047290035.1:p.Arg54Thr, XP_047290040.1:p.Arg54Thr, XP_047290039.1:p.Arg82Thr, XP_047290041.1:p.Arg103Thr, XP_047290042.1:p.Arg54Thr

        4.

        rs1488457923 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          16:57759732 (GRCh38)
          16:57793644 (GRCh37)
          Canonical SPDI:
          NC_000016.10:57759731:G:T
          Gene:
          KIFC3 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000015/4 (TOPMED)
          HGVS:
          NC_000016.10:g.57759732G>T, NC_000016.9:g.57793644G>T, NW_003871085.1:g.19623G>T, NM_005550.4:c.2472C>A, NM_005550.3:c.2472C>A, XM_017023224.2:c.2709C>A, XM_017023224.1:c.2709C>A, NM_001318714.2:c.2055C>A, NM_001318714.1:c.2055C>A, XM_006721188.2:c.3039C>A, XM_006721188.1:c.3039C>A, XM_017023221.2:c.2961C>A, XM_017023221.1:c.2961C>A, XM_005255937.2:c.2961C>A, XM_005255937.1:c.2961C>A, NR_134678.2:n.2951C>A, NR_134678.1:n.2951C>A, XM_011523077.2:c.2556C>A, XM_011523077.1:c.2556C>A, XM_011523079.2:c.2055C>A, XM_011523079.1:c.2055C>A, NM_001318711.2:c.2298C>A, NM_001318711.1:c.2298C>A, NM_001318710.2:c.2538C>A, NM_001318710.1:c.2538C>A, NM_001318715.2:c.2055C>A, NM_001318715.1:c.2055C>A, XM_024450266.2:c.2055C>A, XM_024450266.1:c.2055C>A, NM_001318713.2:c.2046C>A, NM_001318713.1:c.2046C>A, XM_024450267.2:c.2055C>A, XM_024450267.1:c.2055C>A, XM_011523076.2:c.2619C>A, XM_011523076.1:c.2619C>A, NM_001130100.2:c.2472C>A, NM_001130100.1:c.2472C>A, XM_011523075.2:c.2619C>A, XM_011523075.1:c.2619C>A, XM_011523078.2:c.2055C>A, XM_011523078.1:c.2055C>A, NM_001318712.2:c.2166C>A, NM_001318712.1:c.2166C>A, XM_017023225.2:c.2166C>A, XM_017023225.1:c.2301C>A, XM_024450268.2:c.2055C>A, XM_024450268.1:c.2055C>A, XM_047434089.1:c.2055C>A, XM_047434080.1:c.2811C>A, XM_047434081.1:c.2814C>A, XM_047434078.1:c.2814C>A, XM_047434079.1:c.2811C>A, XM_047434082.1:c.2709C>A, XM_047434090.1:c.2055C>A, XM_047434093.1:c.2055C>A, XM_047434084.1:c.2472C>A, XM_047434083.1:c.2556C>A, NM_001130099.1:c.2055C>A, XM_047434087.1:c.2055C>A, XM_047434085.1:c.2484C>A, XM_047434086.1:c.2337C>A, XM_047434088.1:c.2055C>A, XM_047434092.1:c.2055C>A, XM_047434091.1:c.2055C>A

          5.

          rs1488254969 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            16:57788704 (GRCh38)
            16:57822616 (GRCh37)
            Canonical SPDI:
            NC_000016.10:57788703:G:A,NC_000016.10:57788703:G:C
            Gene:
            KIFC3 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000016.10:g.57788704G>A, NC_000016.10:g.57788704G>C, NC_000016.9:g.57822616G>A, NC_000016.9:g.57822616G>C, NW_003871085.1:g.48595G>A, NW_003871085.1:g.48595G>C, XM_017023224.2:c.-111C>T, XM_017023224.2:c.-111C>G, XM_017023224.1:c.-111C>T, XM_017023224.1:c.-111C>G, XM_006721188.2:c.472C>T, XM_006721188.2:c.472C>G, XM_006721188.1:c.472C>T, XM_006721188.1:c.472C>G, XM_017023221.2:c.472C>T, XM_017023221.2:c.472C>G, XM_017023221.1:c.472C>T, XM_017023221.1:c.472C>G, XM_005255937.2:c.472C>T, XM_005255937.2:c.472C>G, XM_005255937.1:c.472C>T, XM_005255937.1:c.472C>G, NM_001318715.2:c.-232C>T, NM_001318715.2:c.-232C>G, NM_001318715.1:c.-232C>T, NM_001318715.1:c.-232C>G, XM_047434080.1:c.322C>T, XM_047434080.1:c.322C>G, XM_047434081.1:c.325C>T, XM_047434081.1:c.325C>G, XM_047434078.1:c.325C>T, XM_047434078.1:c.325C>G, XM_047434079.1:c.322C>T, XM_047434079.1:c.322C>G, XM_047434082.1:c.-111C>T, XM_047434082.1:c.-111C>G, XP_006721251.1:p.Gln158Ter, XP_006721251.1:p.Gln158Glu, XP_016878710.1:p.Gln158Ter, XP_016878710.1:p.Gln158Glu, XP_005255994.1:p.Gln158Ter, XP_005255994.1:p.Gln158Glu, XP_047290036.1:p.Gln108Ter, XP_047290036.1:p.Gln108Glu, XP_047290037.1:p.Gln109Ter, XP_047290037.1:p.Gln109Glu, XP_047290034.1:p.Gln109Ter, XP_047290034.1:p.Gln109Glu, XP_047290035.1:p.Gln108Ter, XP_047290035.1:p.Gln108Glu

            6.

            rs1487294010 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              16:57770605 (GRCh38)
              16:57804517 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57770604:A:G
              Gene:
              KIFC3 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000016.10:g.57770605A>G, NC_000016.9:g.57804517A>G, NW_003871085.1:g.30496A>G, NM_005550.4:c.861T>C, NM_005550.3:c.861T>C, XM_017023224.2:c.1098T>C, XM_017023224.1:c.1098T>C, NM_001318714.2:c.444T>C, NM_001318714.1:c.444T>C, XM_006721188.2:c.1428T>C, XM_006721188.1:c.1428T>C, XM_017023221.2:c.1350T>C, XM_017023221.1:c.1350T>C, XM_005255937.2:c.1350T>C, XM_005255937.1:c.1350T>C, NR_134678.2:n.1242T>C, NR_134678.1:n.1242T>C, XM_011523077.2:c.945T>C, XM_011523077.1:c.945T>C, XM_011523079.2:c.444T>C, XM_011523079.1:c.444T>C, NM_001318711.2:c.687T>C, NM_001318711.1:c.687T>C, NM_001318710.2:c.927T>C, NM_001318710.1:c.927T>C, NM_001318715.2:c.444T>C, NM_001318715.1:c.444T>C, XM_024450266.2:c.444T>C, XM_024450266.1:c.444T>C, NM_001318713.2:c.444T>C, NM_001318713.1:c.444T>C, XM_024450267.2:c.444T>C, XM_024450267.1:c.444T>C, XM_011523076.2:c.1008T>C, XM_011523076.1:c.1008T>C, NM_001130100.2:c.861T>C, NM_001130100.1:c.861T>C, XM_011523075.2:c.1008T>C, XM_011523075.1:c.1008T>C, XM_011523078.2:c.444T>C, XM_011523078.1:c.444T>C, NM_001318712.2:c.555T>C, NM_001318712.1:c.555T>C, XM_017023225.2:c.555T>C, XM_017023225.1:c.690T>C, XM_024450268.2:c.444T>C, XM_024450268.1:c.444T>C, XM_047434089.1:c.444T>C, XM_047434080.1:c.1200T>C, XM_047434081.1:c.1203T>C, XM_047434078.1:c.1203T>C, XM_047434079.1:c.1200T>C, XM_047434082.1:c.1098T>C, XM_047434090.1:c.444T>C, XM_047434093.1:c.444T>C, XM_047434084.1:c.861T>C, XM_047434083.1:c.945T>C, NM_001130099.1:c.444T>C, XM_047434087.1:c.444T>C, XM_047434085.1:c.1008T>C, XM_047434086.1:c.861T>C, XM_047434088.1:c.444T>C, XM_047434092.1:c.444T>C, XM_047434091.1:c.444T>C

              7.

              rs1486607350 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:57770612 (GRCh38)
                16:57804524 (GRCh37)
                Canonical SPDI:
                NC_000016.10:57770611:T:C
                Gene:
                KIFC3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000016.10:g.57770612T>C, NC_000016.9:g.57804524T>C, NW_003871085.1:g.30503T>C, NM_005550.4:c.854A>G, NM_005550.3:c.854A>G, XM_017023224.2:c.1091A>G, XM_017023224.1:c.1091A>G, NM_001318714.2:c.437A>G, NM_001318714.1:c.437A>G, XM_006721188.2:c.1421A>G, XM_006721188.1:c.1421A>G, XM_017023221.2:c.1343A>G, XM_017023221.1:c.1343A>G, XM_005255937.2:c.1343A>G, XM_005255937.1:c.1343A>G, NR_134678.2:n.1235A>G, NR_134678.1:n.1235A>G, XM_011523077.2:c.938A>G, XM_011523077.1:c.938A>G, XM_011523079.2:c.437A>G, XM_011523079.1:c.437A>G, NM_001318711.2:c.680A>G, NM_001318711.1:c.680A>G, NM_001318710.2:c.920A>G, NM_001318710.1:c.920A>G, NM_001318715.2:c.437A>G, NM_001318715.1:c.437A>G, XM_024450266.2:c.437A>G, XM_024450266.1:c.437A>G, NM_001318713.2:c.437A>G, NM_001318713.1:c.437A>G, XM_024450267.2:c.437A>G, XM_024450267.1:c.437A>G, XM_011523076.2:c.1001A>G, XM_011523076.1:c.1001A>G, NM_001130100.2:c.854A>G, NM_001130100.1:c.854A>G, XM_011523075.2:c.1001A>G, XM_011523075.1:c.1001A>G, XM_011523078.2:c.437A>G, XM_011523078.1:c.437A>G, NM_001318712.2:c.548A>G, NM_001318712.1:c.548A>G, XM_017023225.2:c.548A>G, XM_017023225.1:c.683A>G, XM_024450268.2:c.437A>G, XM_024450268.1:c.437A>G, XM_047434089.1:c.437A>G, XM_047434080.1:c.1193A>G, XM_047434081.1:c.1196A>G, XM_047434078.1:c.1196A>G, XM_047434079.1:c.1193A>G, XM_047434082.1:c.1091A>G, XM_047434090.1:c.437A>G, XM_047434093.1:c.437A>G, XM_047434084.1:c.854A>G, XM_047434083.1:c.938A>G, NM_001130099.1:c.437A>G, XM_047434087.1:c.437A>G, XM_047434085.1:c.1001A>G, XM_047434086.1:c.854A>G, XM_047434088.1:c.437A>G, XM_047434092.1:c.437A>G, XM_047434091.1:c.437A>G, NP_005541.3:p.Gln285Arg, XP_016878713.1:p.Gln364Arg, NP_001305643.1:p.Gln146Arg, XP_006721251.1:p.Gln474Arg, XP_016878710.1:p.Gln448Arg, XP_005255994.1:p.Gln448Arg, XP_011521379.1:p.Gln313Arg, XP_011521381.1:p.Gln146Arg, NP_001305640.1:p.Gln227Arg, NP_001305639.1:p.Gln307Arg, NP_001305644.1:p.Gln146Arg, XP_024306034.1:p.Gln146Arg, NP_001305642.1:p.Gln146Arg, XP_024306035.1:p.Gln146Arg, XP_011521378.1:p.Gln334Arg, NP_001123572.1:p.Gln285Arg, XP_011521377.1:p.Gln334Arg, XP_011521380.1:p.Gln146Arg, NP_001305641.1:p.Gln183Arg, XP_016878714.2:p.Gln183Arg, XP_024306036.1:p.Gln146Arg, XP_047290045.1:p.Gln146Arg, XP_047290036.1:p.Gln398Arg, XP_047290037.1:p.Gln399Arg, XP_047290034.1:p.Gln399Arg, XP_047290035.1:p.Gln398Arg, XP_047290038.1:p.Gln364Arg, XP_047290046.1:p.Gln146Arg, XP_047290049.1:p.Gln146Arg, XP_047290040.1:p.Gln285Arg, XP_047290039.1:p.Gln313Arg, NP_001123571.1:p.Gln146Arg, XP_047290043.1:p.Gln146Arg, XP_047290041.1:p.Gln334Arg, XP_047290042.1:p.Gln285Arg, XP_047290044.1:p.Gln146Arg, XP_047290048.1:p.Gln146Arg, XP_047290047.1:p.Gln146Arg

                8.

                rs1484827464 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  16:57769664 (GRCh38)
                  16:57803576 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:57769663:A:G
                  Gene:
                  KIFC3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000016.10:g.57769664A>G, NC_000016.9:g.57803576A>G, NW_003871085.1:g.29555A>G, NM_005550.4:c.1149T>C, NM_005550.3:c.1149T>C, XM_017023224.2:c.1386T>C, XM_017023224.1:c.1386T>C, NM_001318714.2:c.732T>C, NM_001318714.1:c.732T>C, XM_006721188.2:c.1716T>C, XM_006721188.1:c.1716T>C, XM_017023221.2:c.1638T>C, XM_017023221.1:c.1638T>C, XM_005255937.2:c.1638T>C, XM_005255937.1:c.1638T>C, NR_134678.2:n.1530T>C, NR_134678.1:n.1530T>C, XM_011523077.2:c.1233T>C, XM_011523077.1:c.1233T>C, XM_011523079.2:c.732T>C, XM_011523079.1:c.732T>C, NM_001318711.2:c.975T>C, NM_001318711.1:c.975T>C, NM_001318710.2:c.1215T>C, NM_001318710.1:c.1215T>C, NM_001318715.2:c.732T>C, NM_001318715.1:c.732T>C, XM_024450266.2:c.732T>C, XM_024450266.1:c.732T>C, NM_001318713.2:c.732T>C, NM_001318713.1:c.732T>C, XM_024450267.2:c.732T>C, XM_024450267.1:c.732T>C, XM_011523076.2:c.1296T>C, XM_011523076.1:c.1296T>C, NM_001130100.2:c.1149T>C, NM_001130100.1:c.1149T>C, XM_011523075.2:c.1296T>C, XM_011523075.1:c.1296T>C, XM_011523078.2:c.732T>C, XM_011523078.1:c.732T>C, NM_001318712.2:c.843T>C, NM_001318712.1:c.843T>C, XM_017023225.2:c.843T>C, XM_017023225.1:c.978T>C, XM_024450268.2:c.732T>C, XM_024450268.1:c.732T>C, XM_047434089.1:c.732T>C, XM_047434080.1:c.1488T>C, XM_047434081.1:c.1491T>C, XM_047434078.1:c.1491T>C, XM_047434079.1:c.1488T>C, XM_047434082.1:c.1386T>C, XM_047434090.1:c.732T>C, XM_047434093.1:c.732T>C, XM_047434084.1:c.1149T>C, XM_047434083.1:c.1233T>C, NM_001130099.1:c.732T>C, XM_047434087.1:c.732T>C, XM_047434085.1:c.1296T>C, XM_047434086.1:c.1149T>C, XM_047434088.1:c.732T>C, XM_047434092.1:c.732T>C, XM_047434091.1:c.732T>C

                  9.

                  rs1484502010 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    16:57862748 (GRCh38)
                    16:57896652 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57862747:C:G
                    Gene:
                    KIFC3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1481393281 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:57760375 (GRCh38)
                      16:57794287 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57760374:G:A
                      Gene:
                      KIFC3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000016.10:g.57760375G>A, NC_000016.9:g.57794287G>A, NW_003871085.1:g.20266G>A, NM_005550.4:c.2274C>T, NM_005550.3:c.2274C>T, XM_017023224.2:c.2511C>T, XM_017023224.1:c.2511C>T, NM_001318714.2:c.1857C>T, NM_001318714.1:c.1857C>T, XM_006721188.2:c.2841C>T, XM_006721188.1:c.2841C>T, XM_017023221.2:c.2763C>T, XM_017023221.1:c.2763C>T, XM_005255937.2:c.2763C>T, XM_005255937.1:c.2763C>T, NR_134678.2:n.2753C>T, NR_134678.1:n.2753C>T, XM_011523077.2:c.2358C>T, XM_011523077.1:c.2358C>T, XM_011523079.2:c.1857C>T, XM_011523079.1:c.1857C>T, NM_001318711.2:c.2100C>T, NM_001318711.1:c.2100C>T, NM_001318710.2:c.2340C>T, NM_001318710.1:c.2340C>T, NM_001318715.2:c.1857C>T, NM_001318715.1:c.1857C>T, XM_024450266.2:c.1857C>T, XM_024450266.1:c.1857C>T, NM_001318713.2:c.1848C>T, NM_001318713.1:c.1848C>T, XM_024450267.2:c.1857C>T, XM_024450267.1:c.1857C>T, XM_011523076.2:c.2421C>T, XM_011523076.1:c.2421C>T, NM_001130100.2:c.2274C>T, NM_001130100.1:c.2274C>T, XM_011523075.2:c.2421C>T, XM_011523075.1:c.2421C>T, XM_011523078.2:c.1857C>T, XM_011523078.1:c.1857C>T, NM_001318712.2:c.1968C>T, NM_001318712.1:c.1968C>T, XM_017023225.2:c.1968C>T, XM_017023225.1:c.2103C>T, XM_024450268.2:c.1857C>T, XM_024450268.1:c.1857C>T, XM_047434089.1:c.1857C>T, XM_047434080.1:c.2613C>T, XM_047434081.1:c.2616C>T, XM_047434078.1:c.2616C>T, XM_047434079.1:c.2613C>T, XM_047434082.1:c.2511C>T, XM_047434090.1:c.1857C>T, XM_047434093.1:c.1857C>T, XM_047434084.1:c.2274C>T, XM_047434083.1:c.2358C>T, NM_001130099.1:c.1857C>T, XM_047434087.1:c.1857C>T, XM_047434088.1:c.1857C>T, XM_047434092.1:c.1857C>T, XM_047434091.1:c.1857C>T

                      11.

                      rs1480444576 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        16:57798168 (GRCh38)
                        16:57832080 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57798167:G:C
                        Gene:
                        KIFC3 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000016.10:g.57798168G>C, NC_000016.9:g.57832080G>C, NW_003871085.1:g.58059G>C, NM_005550.4:c.76C>G, NM_005550.3:c.76C>G, XM_006721188.2:c.223C>G, XM_006721188.1:c.223C>G, XM_017023221.2:c.223C>G, XM_017023221.1:c.223C>G, XM_005255937.2:c.223C>G, XM_005255937.1:c.223C>G, XM_011523077.2:c.160C>G, XM_011523077.1:c.160C>G, NM_001318710.2:c.142C>G, NM_001318710.1:c.142C>G, XM_011523076.2:c.223C>G, XM_011523076.1:c.223C>G, NM_001130100.2:c.76C>G, NM_001130100.1:c.76C>G, XM_011523075.2:c.223C>G, XM_011523075.1:c.223C>G, XM_047434080.1:c.76C>G, XM_047434081.1:c.76C>G, XM_047434078.1:c.76C>G, XM_047434079.1:c.76C>G, XM_047434084.1:c.76C>G, XM_047434083.1:c.160C>G, XM_047434085.1:c.223C>G, XM_047434086.1:c.76C>G, NP_005541.3:p.Pro26Ala, XP_006721251.1:p.Pro75Ala, XP_016878710.1:p.Pro75Ala, XP_005255994.1:p.Pro75Ala, XP_011521379.1:p.Pro54Ala, NP_001305639.1:p.Pro48Ala, XP_011521378.1:p.Pro75Ala, NP_001123572.1:p.Pro26Ala, XP_011521377.1:p.Pro75Ala, XP_047290036.1:p.Pro26Ala, XP_047290037.1:p.Pro26Ala, XP_047290034.1:p.Pro26Ala, XP_047290035.1:p.Pro26Ala, XP_047290040.1:p.Pro26Ala, XP_047290039.1:p.Pro54Ala, XP_047290041.1:p.Pro75Ala, XP_047290042.1:p.Pro26Ala

                        12.

                        rs1480413693 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:57760823 (GRCh38)
                          16:57794735 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57760822:C:T
                          Gene:
                          KIFC3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_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_000016.10:g.57760823C>T, NC_000016.9:g.57794735C>T, NW_003871085.1:g.20714C>T, NM_005550.4:c.2135G>A, NM_005550.3:c.2135G>A, XM_017023224.2:c.2372G>A, XM_017023224.1:c.2372G>A, NM_001318714.2:c.1718G>A, NM_001318714.1:c.1718G>A, XM_006721188.2:c.2702G>A, XM_006721188.1:c.2702G>A, XM_017023221.2:c.2624G>A, XM_017023221.1:c.2624G>A, XM_005255937.2:c.2624G>A, XM_005255937.1:c.2624G>A, NR_134678.2:n.2614G>A, NR_134678.1:n.2614G>A, XM_011523077.2:c.2219G>A, XM_011523077.1:c.2219G>A, XM_011523079.2:c.1718G>A, XM_011523079.1:c.1718G>A, NM_001318711.2:c.1961G>A, NM_001318711.1:c.1961G>A, NM_001318710.2:c.2201G>A, NM_001318710.1:c.2201G>A, NM_001318715.2:c.1718G>A, NM_001318715.1:c.1718G>A, XM_024450266.2:c.1718G>A, XM_024450266.1:c.1718G>A, NM_001318713.2:c.1709G>A, NM_001318713.1:c.1709G>A, XM_024450267.2:c.1718G>A, XM_024450267.1:c.1718G>A, XM_011523076.2:c.2282G>A, XM_011523076.1:c.2282G>A, NM_001130100.2:c.2135G>A, NM_001130100.1:c.2135G>A, XM_011523075.2:c.2282G>A, XM_011523075.1:c.2282G>A, XM_011523078.2:c.1718G>A, XM_011523078.1:c.1718G>A, NM_001318712.2:c.1829G>A, NM_001318712.1:c.1829G>A, XM_017023225.2:c.1829G>A, XM_017023225.1:c.1964G>A, XM_024450268.2:c.1718G>A, XM_024450268.1:c.1718G>A, XM_047434089.1:c.1718G>A, XM_047434080.1:c.2474G>A, XM_047434081.1:c.2477G>A, XM_047434078.1:c.2477G>A, XM_047434079.1:c.2474G>A, XM_047434082.1:c.2372G>A, XM_047434090.1:c.1718G>A, XM_047434093.1:c.1718G>A, XM_047434084.1:c.2135G>A, XM_047434083.1:c.2219G>A, NM_001130099.1:c.1718G>A, XM_047434087.1:c.1718G>A, XM_047434085.1:c.2282G>A, XM_047434086.1:c.2135G>A, XM_047434088.1:c.1718G>A, XM_047434092.1:c.1718G>A, XM_047434091.1:c.1718G>A, NP_005541.3:p.Arg712His, XP_016878713.1:p.Arg791His, NP_001305643.1:p.Arg573His, XP_006721251.1:p.Arg901His, XP_016878710.1:p.Arg875His, XP_005255994.1:p.Arg875His, XP_011521379.1:p.Arg740His, XP_011521381.1:p.Arg573His, NP_001305640.1:p.Arg654His, NP_001305639.1:p.Arg734His, NP_001305644.1:p.Arg573His, XP_024306034.1:p.Arg573His, NP_001305642.1:p.Arg570His, XP_024306035.1:p.Arg573His, XP_011521378.1:p.Arg761His, NP_001123572.1:p.Arg712His, XP_011521377.1:p.Arg761His, XP_011521380.1:p.Arg573His, NP_001305641.1:p.Arg610His, XP_016878714.2:p.Arg610His, XP_024306036.1:p.Arg573His, XP_047290045.1:p.Arg573His, XP_047290036.1:p.Arg825His, XP_047290037.1:p.Arg826His, XP_047290034.1:p.Arg826His, XP_047290035.1:p.Arg825His, XP_047290038.1:p.Arg791His, XP_047290046.1:p.Arg573His, XP_047290049.1:p.Arg573His, XP_047290040.1:p.Arg712His, XP_047290039.1:p.Arg740His, NP_001123571.1:p.Arg573His, XP_047290043.1:p.Arg573His, XP_047290041.1:p.Arg761His, XP_047290042.1:p.Arg712His, XP_047290044.1:p.Arg573His, XP_047290048.1:p.Arg573His, XP_047290047.1:p.Arg573His

                          13.

                          rs1478735212 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:57769820 (GRCh38)
                            16:57803732 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57769819:C:T
                            Gene:
                            KIFC3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000016.10:g.57769820C>T, NC_000016.9:g.57803732C>T, NW_003871085.1:g.29711C>T, NM_005550.4:c.1075G>A, NM_005550.3:c.1075G>A, XM_017023224.2:c.1312G>A, XM_017023224.1:c.1312G>A, NM_001318714.2:c.658G>A, NM_001318714.1:c.658G>A, XM_006721188.2:c.1642G>A, XM_006721188.1:c.1642G>A, XM_017023221.2:c.1564G>A, XM_017023221.1:c.1564G>A, XM_005255937.2:c.1564G>A, XM_005255937.1:c.1564G>A, NR_134678.2:n.1456G>A, NR_134678.1:n.1456G>A, XM_011523077.2:c.1159G>A, XM_011523077.1:c.1159G>A, XM_011523079.2:c.658G>A, XM_011523079.1:c.658G>A, NM_001318711.2:c.901G>A, NM_001318711.1:c.901G>A, NM_001318710.2:c.1141G>A, NM_001318710.1:c.1141G>A, NM_001318715.2:c.658G>A, NM_001318715.1:c.658G>A, XM_024450266.2:c.658G>A, XM_024450266.1:c.658G>A, NM_001318713.2:c.658G>A, NM_001318713.1:c.658G>A, XM_024450267.2:c.658G>A, XM_024450267.1:c.658G>A, XM_011523076.2:c.1222G>A, XM_011523076.1:c.1222G>A, NM_001130100.2:c.1075G>A, NM_001130100.1:c.1075G>A, XM_011523075.2:c.1222G>A, XM_011523075.1:c.1222G>A, XM_011523078.2:c.658G>A, XM_011523078.1:c.658G>A, NM_001318712.2:c.769G>A, NM_001318712.1:c.769G>A, XM_017023225.2:c.769G>A, XM_017023225.1:c.904G>A, XM_024450268.2:c.658G>A, XM_024450268.1:c.658G>A, XM_047434089.1:c.658G>A, XM_047434080.1:c.1414G>A, XM_047434081.1:c.1417G>A, XM_047434078.1:c.1417G>A, XM_047434079.1:c.1414G>A, XM_047434082.1:c.1312G>A, XM_047434090.1:c.658G>A, XM_047434093.1:c.658G>A, XM_047434084.1:c.1075G>A, XM_047434083.1:c.1159G>A, NM_001130099.1:c.658G>A, XM_047434087.1:c.658G>A, XM_047434085.1:c.1222G>A, XM_047434086.1:c.1075G>A, XM_047434088.1:c.658G>A, XM_047434092.1:c.658G>A, XM_047434091.1:c.658G>A, NP_005541.3:p.Glu359Lys, XP_016878713.1:p.Glu438Lys, NP_001305643.1:p.Glu220Lys, XP_006721251.1:p.Glu548Lys, XP_016878710.1:p.Glu522Lys, XP_005255994.1:p.Glu522Lys, XP_011521379.1:p.Glu387Lys, XP_011521381.1:p.Glu220Lys, NP_001305640.1:p.Glu301Lys, NP_001305639.1:p.Glu381Lys, NP_001305644.1:p.Glu220Lys, XP_024306034.1:p.Glu220Lys, NP_001305642.1:p.Glu220Lys, XP_024306035.1:p.Glu220Lys, XP_011521378.1:p.Glu408Lys, NP_001123572.1:p.Glu359Lys, XP_011521377.1:p.Glu408Lys, XP_011521380.1:p.Glu220Lys, NP_001305641.1:p.Glu257Lys, XP_016878714.2:p.Glu257Lys, XP_024306036.1:p.Glu220Lys, XP_047290045.1:p.Glu220Lys, XP_047290036.1:p.Glu472Lys, XP_047290037.1:p.Glu473Lys, XP_047290034.1:p.Glu473Lys, XP_047290035.1:p.Glu472Lys, XP_047290038.1:p.Glu438Lys, XP_047290046.1:p.Glu220Lys, XP_047290049.1:p.Glu220Lys, XP_047290040.1:p.Glu359Lys, XP_047290039.1:p.Glu387Lys, NP_001123571.1:p.Glu220Lys, XP_047290043.1:p.Glu220Lys, XP_047290041.1:p.Glu408Lys, XP_047290042.1:p.Glu359Lys, XP_047290044.1:p.Glu220Lys, XP_047290048.1:p.Glu220Lys, XP_047290047.1:p.Glu220Lys

                            14.

                            rs1476778607 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:57770683 (GRCh38)
                              16:57804595 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57770682:C:T
                              Gene:
                              KIFC3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000016.10:g.57770683C>T, NC_000016.9:g.57804595C>T, NW_003871085.1:g.30574C>T, NM_005550.4:c.783G>A, NM_005550.3:c.783G>A, XM_017023224.2:c.1020G>A, XM_017023224.1:c.1020G>A, NM_001318714.2:c.366G>A, NM_001318714.1:c.366G>A, XM_006721188.2:c.1350G>A, XM_006721188.1:c.1350G>A, XM_017023221.2:c.1272G>A, XM_017023221.1:c.1272G>A, XM_005255937.2:c.1272G>A, XM_005255937.1:c.1272G>A, NR_134678.2:n.1164G>A, NR_134678.1:n.1164G>A, XM_011523077.2:c.867G>A, XM_011523077.1:c.867G>A, XM_011523079.2:c.366G>A, XM_011523079.1:c.366G>A, NM_001318711.2:c.609G>A, NM_001318711.1:c.609G>A, NM_001318710.2:c.849G>A, NM_001318710.1:c.849G>A, NM_001318715.2:c.366G>A, NM_001318715.1:c.366G>A, XM_024450266.2:c.366G>A, XM_024450266.1:c.366G>A, NM_001318713.2:c.366G>A, NM_001318713.1:c.366G>A, XM_024450267.2:c.366G>A, XM_024450267.1:c.366G>A, XM_011523076.2:c.930G>A, XM_011523076.1:c.930G>A, NM_001130100.2:c.783G>A, NM_001130100.1:c.783G>A, XM_011523075.2:c.930G>A, XM_011523075.1:c.930G>A, XM_011523078.2:c.366G>A, XM_011523078.1:c.366G>A, NM_001318712.2:c.477G>A, NM_001318712.1:c.477G>A, XM_017023225.2:c.477G>A, XM_017023225.1:c.612G>A, XM_024450268.2:c.366G>A, XM_024450268.1:c.366G>A, XM_047434089.1:c.366G>A, XM_047434080.1:c.1122G>A, XM_047434081.1:c.1125G>A, XM_047434078.1:c.1125G>A, XM_047434079.1:c.1122G>A, XM_047434082.1:c.1020G>A, XM_047434090.1:c.366G>A, XM_047434093.1:c.366G>A, XM_047434084.1:c.783G>A, XM_047434083.1:c.867G>A, NM_001130099.1:c.366G>A, XM_047434087.1:c.366G>A, XM_047434085.1:c.930G>A, XM_047434086.1:c.783G>A, XM_047434088.1:c.366G>A, XM_047434092.1:c.366G>A, XM_047434091.1:c.366G>A

                              15.

                              rs1476725495 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                16:57764212 (GRCh38)
                                16:57798124 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57764211:G:C
                                Gene:
                                KIFC3 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000016.10:g.57764212G>C, NC_000016.9:g.57798124G>C, NW_003871085.1:g.24103G>C, NM_005550.4:c.1548C>G, NM_005550.3:c.1548C>G, XM_017023224.2:c.1785C>G, XM_017023224.1:c.1785C>G, NM_001318714.2:c.1131C>G, NM_001318714.1:c.1131C>G, XM_006721188.2:c.2115C>G, XM_006721188.1:c.2115C>G, XM_017023221.2:c.2037C>G, XM_017023221.1:c.2037C>G, XM_005255937.2:c.2037C>G, XM_005255937.1:c.2037C>G, NR_134678.2:n.1929C>G, NR_134678.1:n.1929C>G, XM_011523077.2:c.1632C>G, XM_011523077.1:c.1632C>G, XM_011523079.2:c.1131C>G, XM_011523079.1:c.1131C>G, NM_001318711.2:c.1374C>G, NM_001318711.1:c.1374C>G, NM_001318710.2:c.1614C>G, NM_001318710.1:c.1614C>G, NM_001318715.2:c.1131C>G, NM_001318715.1:c.1131C>G, XM_024450266.2:c.1131C>G, XM_024450266.1:c.1131C>G, NM_001318713.2:c.1122C>G, NM_001318713.1:c.1122C>G, XM_024450267.2:c.1131C>G, XM_024450267.1:c.1131C>G, XM_011523076.2:c.1695C>G, XM_011523076.1:c.1695C>G, NM_001130100.2:c.1548C>G, NM_001130100.1:c.1548C>G, XM_011523075.2:c.1695C>G, XM_011523075.1:c.1695C>G, XM_011523078.2:c.1131C>G, XM_011523078.1:c.1131C>G, NM_001318712.2:c.1242C>G, NM_001318712.1:c.1242C>G, XM_017023225.2:c.1242C>G, XM_017023225.1:c.1377C>G, XM_024450268.2:c.1131C>G, XM_024450268.1:c.1131C>G, XM_047434089.1:c.1131C>G, XM_047434080.1:c.1887C>G, XM_047434081.1:c.1890C>G, XM_047434078.1:c.1890C>G, XM_047434079.1:c.1887C>G, XM_047434082.1:c.1785C>G, XM_047434090.1:c.1131C>G, XM_047434093.1:c.1131C>G, XM_047434084.1:c.1548C>G, XM_047434083.1:c.1632C>G, NM_001130099.1:c.1131C>G, XM_047434087.1:c.1131C>G, XM_047434085.1:c.1695C>G, XM_047434086.1:c.1548C>G, XM_047434088.1:c.1131C>G, XM_047434092.1:c.1131C>G, XM_047434091.1:c.1131C>G, NP_005541.3:p.Cys516Trp, XP_016878713.1:p.Cys595Trp, NP_001305643.1:p.Cys377Trp, XP_006721251.1:p.Cys705Trp, XP_016878710.1:p.Cys679Trp, XP_005255994.1:p.Cys679Trp, XP_011521379.1:p.Cys544Trp, XP_011521381.1:p.Cys377Trp, NP_001305640.1:p.Cys458Trp, NP_001305639.1:p.Cys538Trp, NP_001305644.1:p.Cys377Trp, XP_024306034.1:p.Cys377Trp, NP_001305642.1:p.Cys374Trp, XP_024306035.1:p.Cys377Trp, XP_011521378.1:p.Cys565Trp, NP_001123572.1:p.Cys516Trp, XP_011521377.1:p.Cys565Trp, XP_011521380.1:p.Cys377Trp, NP_001305641.1:p.Cys414Trp, XP_016878714.2:p.Cys414Trp, XP_024306036.1:p.Cys377Trp, XP_047290045.1:p.Cys377Trp, XP_047290036.1:p.Cys629Trp, XP_047290037.1:p.Cys630Trp, XP_047290034.1:p.Cys630Trp, XP_047290035.1:p.Cys629Trp, XP_047290038.1:p.Cys595Trp, XP_047290046.1:p.Cys377Trp, XP_047290049.1:p.Cys377Trp, XP_047290040.1:p.Cys516Trp, XP_047290039.1:p.Cys544Trp, NP_001123571.1:p.Cys377Trp, XP_047290043.1:p.Cys377Trp, XP_047290041.1:p.Cys565Trp, XP_047290042.1:p.Cys516Trp, XP_047290044.1:p.Cys377Trp, XP_047290048.1:p.Cys377Trp, XP_047290047.1:p.Cys377Trp

                                16.

                                rs1476210350 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:57759800 (GRCh38)
                                  16:57793712 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57759799:G:A
                                  Gene:
                                  KIFC3 (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 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  A=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000016.10:g.57759800G>A, NC_000016.9:g.57793712G>A, NW_003871085.1:g.19691G>A, NM_005550.4:c.2404C>T, NM_005550.3:c.2404C>T, XM_017023224.2:c.2641C>T, XM_017023224.1:c.2641C>T, NM_001318714.2:c.1987C>T, NM_001318714.1:c.1987C>T, XM_006721188.2:c.2971C>T, XM_006721188.1:c.2971C>T, XM_017023221.2:c.2893C>T, XM_017023221.1:c.2893C>T, XM_005255937.2:c.2893C>T, XM_005255937.1:c.2893C>T, NR_134678.2:n.2883C>T, NR_134678.1:n.2883C>T, XM_011523077.2:c.2488C>T, XM_011523077.1:c.2488C>T, XM_011523079.2:c.1987C>T, XM_011523079.1:c.1987C>T, NM_001318711.2:c.2230C>T, NM_001318711.1:c.2230C>T, NM_001318710.2:c.2470C>T, NM_001318710.1:c.2470C>T, NM_001318715.2:c.1987C>T, NM_001318715.1:c.1987C>T, XM_024450266.2:c.1987C>T, XM_024450266.1:c.1987C>T, NM_001318713.2:c.1978C>T, NM_001318713.1:c.1978C>T, XM_024450267.2:c.1987C>T, XM_024450267.1:c.1987C>T, XM_011523076.2:c.2551C>T, XM_011523076.1:c.2551C>T, NM_001130100.2:c.2404C>T, NM_001130100.1:c.2404C>T, XM_011523075.2:c.2551C>T, XM_011523075.1:c.2551C>T, XM_011523078.2:c.1987C>T, XM_011523078.1:c.1987C>T, NM_001318712.2:c.2098C>T, NM_001318712.1:c.2098C>T, XM_017023225.2:c.2098C>T, XM_017023225.1:c.2233C>T, XM_024450268.2:c.1987C>T, XM_024450268.1:c.1987C>T, XM_047434089.1:c.1987C>T, XM_047434080.1:c.2743C>T, XM_047434081.1:c.2746C>T, XM_047434078.1:c.2746C>T, XM_047434079.1:c.2743C>T, XM_047434082.1:c.2641C>T, XM_047434090.1:c.1987C>T, XM_047434093.1:c.1987C>T, XM_047434084.1:c.2404C>T, XM_047434083.1:c.2488C>T, NM_001130099.1:c.1987C>T, XM_047434087.1:c.1987C>T, XM_047434085.1:c.2416C>T, XM_047434086.1:c.2269C>T, XM_047434088.1:c.1987C>T, XM_047434092.1:c.1987C>T, XM_047434091.1:c.1987C>T, NP_005541.3:p.Arg802Trp, XP_016878713.1:p.Arg881Trp, NP_001305643.1:p.Arg663Trp, XP_006721251.1:p.Arg991Trp, XP_016878710.1:p.Arg965Trp, XP_005255994.1:p.Arg965Trp, XP_011521379.1:p.Arg830Trp, XP_011521381.1:p.Arg663Trp, NP_001305640.1:p.Arg744Trp, NP_001305639.1:p.Arg824Trp, NP_001305644.1:p.Arg663Trp, XP_024306034.1:p.Arg663Trp, NP_001305642.1:p.Arg660Trp, XP_024306035.1:p.Arg663Trp, XP_011521378.1:p.Arg851Trp, NP_001123572.1:p.Arg802Trp, XP_011521377.1:p.Arg851Trp, XP_011521380.1:p.Arg663Trp, NP_001305641.1:p.Arg700Trp, XP_016878714.2:p.Arg700Trp, XP_024306036.1:p.Arg663Trp, XP_047290045.1:p.Arg663Trp, XP_047290036.1:p.Arg915Trp, XP_047290037.1:p.Arg916Trp, XP_047290034.1:p.Arg916Trp, XP_047290035.1:p.Arg915Trp, XP_047290038.1:p.Arg881Trp, XP_047290046.1:p.Arg663Trp, XP_047290049.1:p.Arg663Trp, XP_047290040.1:p.Arg802Trp, XP_047290039.1:p.Arg830Trp, NP_001123571.1:p.Arg663Trp, XP_047290043.1:p.Arg663Trp, XP_047290041.1:p.Arg806Trp, XP_047290042.1:p.Arg757Trp, XP_047290044.1:p.Arg663Trp, XP_047290048.1:p.Arg663Trp, XP_047290047.1:p.Arg663Trp

                                  17.

                                  rs1474080989 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:57795107 (GRCh38)
                                    16:57829019 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57795106:C:T
                                    Gene:
                                    KIFC3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.57795107C>T, NC_000016.9:g.57829019C>T, NW_003871085.1:g.54998C>T, NM_005550.4:c.207G>A, NM_005550.3:c.207G>A, XM_017023224.2:c.-229G>A, XM_017023224.1:c.-229G>A, XM_006721188.2:c.354G>A, XM_006721188.1:c.354G>A, XM_017023221.2:c.354G>A, XM_017023221.1:c.354G>A, XM_005255937.2:c.354G>A, XM_005255937.1:c.354G>A, XM_011523077.2:c.291G>A, XM_011523077.1:c.291G>A, NM_001318711.2:c.-171G>A, NM_001318711.1:c.-171G>A, NM_001318710.2:c.273G>A, NM_001318710.1:c.273G>A, NM_001318715.2:c.-350G>A, NM_001318715.1:c.-350G>A, XM_011523076.2:c.354G>A, XM_011523076.1:c.354G>A, NM_001130100.2:c.207G>A, NM_001130100.1:c.207G>A, XM_011523075.2:c.354G>A, XM_011523075.1:c.354G>A, XM_011523078.2:c.-211G>A, XM_011523078.1:c.-211G>A, XM_047434080.1:c.207G>A, XM_047434081.1:c.207G>A, XM_047434078.1:c.207G>A, XM_047434079.1:c.207G>A, XM_047434084.1:c.207G>A, XM_047434083.1:c.291G>A, NM_001130099.1:c.-211G>A, XM_047434087.1:c.-211G>A, XM_047434085.1:c.354G>A, XM_047434086.1:c.207G>A, XM_047434088.1:c.-211G>A

                                    18.

                                    rs1469912898 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      16:57785532 (GRCh38)
                                      16:57819444 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:57785531:C:A
                                      Gene:
                                      KIFC3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1469719214 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        16:57772273 (GRCh38)
                                        16:57806185 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57772272:C:G,NC_000016.10:57772272:C:T
                                        Gene:
                                        KIFC3 (Varview), MIR6772 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.57772273C>G, NC_000016.10:g.57772273C>T, NC_000016.9:g.57806185C>G, NC_000016.9:g.57806185C>T, NW_003871085.1:g.32164C>G, NW_003871085.1:g.32164C>T, NM_005550.4:c.331G>C, NM_005550.4:c.331G>A, NM_005550.3:c.331G>C, NM_005550.3:c.331G>A, XM_017023224.2:c.568G>C, XM_017023224.2:c.568G>A, XM_017023224.1:c.568G>C, XM_017023224.1:c.568G>A, NM_001318714.2:c.-87G>C, NM_001318714.2:c.-87G>A, NM_001318714.1:c.-87G>C, NM_001318714.1:c.-87G>A, XM_006721188.2:c.898G>C, XM_006721188.2:c.898G>A, XM_006721188.1:c.898G>C, XM_006721188.1:c.898G>A, XM_017023221.2:c.820G>C, XM_017023221.2:c.820G>A, XM_017023221.1:c.820G>C, XM_017023221.1:c.820G>A, XM_005255937.2:c.820G>C, XM_005255937.2:c.820G>A, XM_005255937.1:c.820G>C, XM_005255937.1:c.820G>A, NR_134678.2:n.712G>C, NR_134678.2:n.712G>A, NR_134678.1:n.712G>C, NR_134678.1:n.712G>A, XM_011523077.2:c.415G>C, XM_011523077.2:c.415G>A, XM_011523077.1:c.415G>C, XM_011523077.1:c.415G>A, XM_011523079.2:c.-87G>C, XM_011523079.2:c.-87G>A, XM_011523079.1:c.-87G>C, XM_011523079.1:c.-87G>A, NM_001318711.2:c.157G>C, NM_001318711.2:c.157G>A, NM_001318711.1:c.157G>C, NM_001318711.1:c.157G>A, NM_001318710.2:c.397G>C, NM_001318710.2:c.397G>A, NM_001318710.1:c.397G>C, NM_001318710.1:c.397G>A, NM_001318715.2:c.-87G>C, NM_001318715.2:c.-87G>A, NM_001318715.1:c.-87G>C, NM_001318715.1:c.-87G>A, XM_024450266.2:c.-87G>C, XM_024450266.2:c.-87G>A, XM_024450266.1:c.-87G>C, XM_024450266.1:c.-87G>A, NM_001318713.2:c.-87G>C, NM_001318713.2:c.-87G>A, NM_001318713.1:c.-87G>C, NM_001318713.1:c.-87G>A, XM_024450267.2:c.-87G>C, XM_024450267.2:c.-87G>A, XM_024450267.1:c.-87G>C, XM_024450267.1:c.-87G>A, XM_011523076.2:c.478G>C, XM_011523076.2:c.478G>A, XM_011523076.1:c.478G>C, XM_011523076.1:c.478G>A, NM_001130100.2:c.331G>C, NM_001130100.2:c.331G>A, NM_001130100.1:c.331G>C, NM_001130100.1:c.331G>A, XM_011523075.2:c.478G>C, XM_011523075.2:c.478G>A, XM_011523075.1:c.478G>C, XM_011523075.1:c.478G>A, XM_011523078.2:c.-87G>C, XM_011523078.2:c.-87G>A, XM_011523078.1:c.-87G>C, XM_011523078.1:c.-87G>A, NM_001318712.2:c.25G>C, NM_001318712.2:c.25G>A, NM_001318712.1:c.25G>C, NM_001318712.1:c.25G>A, XM_017023225.2:c.25G>C, XM_017023225.2:c.25G>A, XM_017023225.1:c.160G>C, XM_017023225.1:c.160G>A, XM_024450268.2:c.-87G>C, XM_024450268.2:c.-87G>A, XM_024450268.1:c.-87G>C, XM_024450268.1:c.-87G>A, XM_047434089.1:c.-87G>C, XM_047434089.1:c.-87G>A, XM_047434080.1:c.670G>C, XM_047434080.1:c.670G>A, XM_047434081.1:c.673G>C, XM_047434081.1:c.673G>A, XM_047434078.1:c.673G>C, XM_047434078.1:c.673G>A, XM_047434079.1:c.670G>C, XM_047434079.1:c.670G>A, XM_047434082.1:c.568G>C, XM_047434082.1:c.568G>A, XM_047434090.1:c.-87G>C, XM_047434090.1:c.-87G>A, XM_047434093.1:c.-87G>C, XM_047434093.1:c.-87G>A, XM_047434084.1:c.331G>C, XM_047434084.1:c.331G>A, XM_047434083.1:c.415G>C, XM_047434083.1:c.415G>A, NM_001130099.1:c.-87G>C, NM_001130099.1:c.-87G>A, XM_047434087.1:c.-87G>C, XM_047434087.1:c.-87G>A, XM_047434085.1:c.478G>C, XM_047434085.1:c.478G>A, XM_047434086.1:c.331G>C, XM_047434086.1:c.331G>A, XM_047434088.1:c.-87G>C, XM_047434088.1:c.-87G>A, XM_047434092.1:c.-87G>C, XM_047434092.1:c.-87G>A, XM_047434091.1:c.-87G>C, XM_047434091.1:c.-87G>A, NP_005541.3:p.Glu111Gln, NP_005541.3:p.Glu111Lys, XP_016878713.1:p.Glu190Gln, XP_016878713.1:p.Glu190Lys, XP_006721251.1:p.Glu300Gln, XP_006721251.1:p.Glu300Lys, XP_016878710.1:p.Glu274Gln, XP_016878710.1:p.Glu274Lys, XP_005255994.1:p.Glu274Gln, XP_005255994.1:p.Glu274Lys, XP_011521379.1:p.Glu139Gln, XP_011521379.1:p.Glu139Lys, NP_001305640.1:p.Glu53Gln, NP_001305640.1:p.Glu53Lys, NP_001305639.1:p.Glu133Gln, NP_001305639.1:p.Glu133Lys, XP_011521378.1:p.Glu160Gln, XP_011521378.1:p.Glu160Lys, NP_001123572.1:p.Glu111Gln, NP_001123572.1:p.Glu111Lys, XP_011521377.1:p.Glu160Gln, XP_011521377.1:p.Glu160Lys, NP_001305641.1:p.Glu9Gln, NP_001305641.1:p.Glu9Lys, XP_016878714.2:p.Glu9Gln, XP_016878714.2:p.Glu9Lys, XP_047290036.1:p.Glu224Gln, XP_047290036.1:p.Glu224Lys, XP_047290037.1:p.Glu225Gln, XP_047290037.1:p.Glu225Lys, XP_047290034.1:p.Glu225Gln, XP_047290034.1:p.Glu225Lys, XP_047290035.1:p.Glu224Gln, XP_047290035.1:p.Glu224Lys, XP_047290038.1:p.Glu190Gln, XP_047290038.1:p.Glu190Lys, XP_047290040.1:p.Glu111Gln, XP_047290040.1:p.Glu111Lys, XP_047290039.1:p.Glu139Gln, XP_047290039.1:p.Glu139Lys, XP_047290041.1:p.Glu160Gln, XP_047290041.1:p.Glu160Lys, XP_047290042.1:p.Glu111Gln, XP_047290042.1:p.Glu111Lys

                                        20.

                                        rs1468904755 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          16:57760908 (GRCh38)
                                          16:57794820 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57760907:A:G
                                          Gene:
                                          KIFC3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.57760908A>G, NC_000016.9:g.57794820A>G, NW_003871085.1:g.20799A>G, NM_005550.4:c.2050T>C, NM_005550.3:c.2050T>C, XM_017023224.2:c.2287T>C, XM_017023224.1:c.2287T>C, NM_001318714.2:c.1633T>C, NM_001318714.1:c.1633T>C, XM_006721188.2:c.2617T>C, XM_006721188.1:c.2617T>C, XM_017023221.2:c.2539T>C, XM_017023221.1:c.2539T>C, XM_005255937.2:c.2539T>C, XM_005255937.1:c.2539T>C, NR_134678.2:n.2529T>C, NR_134678.1:n.2529T>C, XM_011523077.2:c.2134T>C, XM_011523077.1:c.2134T>C, XM_011523079.2:c.1633T>C, XM_011523079.1:c.1633T>C, NM_001318711.2:c.1876T>C, NM_001318711.1:c.1876T>C, NM_001318710.2:c.2116T>C, NM_001318710.1:c.2116T>C, NM_001318715.2:c.1633T>C, NM_001318715.1:c.1633T>C, XM_024450266.2:c.1633T>C, XM_024450266.1:c.1633T>C, NM_001318713.2:c.1624T>C, NM_001318713.1:c.1624T>C, XM_024450267.2:c.1633T>C, XM_024450267.1:c.1633T>C, XM_011523076.2:c.2197T>C, XM_011523076.1:c.2197T>C, NM_001130100.2:c.2050T>C, NM_001130100.1:c.2050T>C, XM_011523075.2:c.2197T>C, XM_011523075.1:c.2197T>C, XM_011523078.2:c.1633T>C, XM_011523078.1:c.1633T>C, NM_001318712.2:c.1744T>C, NM_001318712.1:c.1744T>C, XM_017023225.2:c.1744T>C, XM_017023225.1:c.1879T>C, XM_024450268.2:c.1633T>C, XM_024450268.1:c.1633T>C, XM_047434089.1:c.1633T>C, XM_047434080.1:c.2389T>C, XM_047434081.1:c.2392T>C, XM_047434078.1:c.2392T>C, XM_047434079.1:c.2389T>C, XM_047434082.1:c.2287T>C, XM_047434090.1:c.1633T>C, XM_047434093.1:c.1633T>C, XM_047434084.1:c.2050T>C, XM_047434083.1:c.2134T>C, NM_001130099.1:c.1633T>C, XM_047434087.1:c.1633T>C, XM_047434085.1:c.2197T>C, XM_047434086.1:c.2050T>C, XM_047434088.1:c.1633T>C, XM_047434092.1:c.1633T>C, XM_047434091.1:c.1633T>C, NP_005541.3:p.Ser684Pro, XP_016878713.1:p.Ser763Pro, NP_001305643.1:p.Ser545Pro, XP_006721251.1:p.Ser873Pro, XP_016878710.1:p.Ser847Pro, XP_005255994.1:p.Ser847Pro, XP_011521379.1:p.Ser712Pro, XP_011521381.1:p.Ser545Pro, NP_001305640.1:p.Ser626Pro, NP_001305639.1:p.Ser706Pro, NP_001305644.1:p.Ser545Pro, XP_024306034.1:p.Ser545Pro, NP_001305642.1:p.Ser542Pro, XP_024306035.1:p.Ser545Pro, XP_011521378.1:p.Ser733Pro, NP_001123572.1:p.Ser684Pro, XP_011521377.1:p.Ser733Pro, XP_011521380.1:p.Ser545Pro, NP_001305641.1:p.Ser582Pro, XP_016878714.2:p.Ser582Pro, XP_024306036.1:p.Ser545Pro, XP_047290045.1:p.Ser545Pro, XP_047290036.1:p.Ser797Pro, XP_047290037.1:p.Ser798Pro, XP_047290034.1:p.Ser798Pro, XP_047290035.1:p.Ser797Pro, XP_047290038.1:p.Ser763Pro, XP_047290046.1:p.Ser545Pro, XP_047290049.1:p.Ser545Pro, XP_047290040.1:p.Ser684Pro, XP_047290039.1:p.Ser712Pro, NP_001123571.1:p.Ser545Pro, XP_047290043.1:p.Ser545Pro, XP_047290041.1:p.Ser733Pro, XP_047290042.1:p.Ser684Pro, XP_047290044.1:p.Ser545Pro, XP_047290048.1:p.Ser545Pro, XP_047290047.1:p.Ser545Pro

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