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Items: 1 to 20 of 1187

1.

rs1490877290 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:20682671 (GRCh38)
    1:21009164 (GRCh37)
    Canonical SPDI:
    NC_000001.11:20682670:C:T
    Gene:
    KIF17 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1489898049 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:20684949 (GRCh38)
      1:21011442 (GRCh37)
      Canonical SPDI:
      NC_000001.11:20684948:A:G
      Gene:
      KIF17 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1485428184 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:20687591 (GRCh38)
        1:21014084 (GRCh37)
        Canonical SPDI:
        NC_000001.11:20687590:C:G
        Gene:
        KIF17 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.20687591C>G, NC_000001.10:g.21014084C>G, NM_020816.4:c.1735G>C, NM_020816.3:c.1735G>C, NM_020816.2:c.1735G>C, NM_001122819.3:c.1735G>C, NM_001122819.2:c.1735G>C, NM_001122819.1:c.1735G>C, NM_001287212.2:c.1435G>C, NM_001287212.1:c.1435G>C, XR_007062426.1:n.2036G>C, XM_047426158.1:c.1435G>C, XM_047426151.1:c.1735G>C, XM_047426146.1:c.1735G>C, XM_047426147.1:c.1735G>C, XM_047426148.1:c.1735G>C, XM_047426149.1:c.1735G>C, XM_047426150.1:c.1735G>C, XM_047426156.1:c.1735G>C, XM_047426157.1:c.1735G>C, XM_047426152.1:c.1735G>C, XM_047426153.1:c.1735G>C, XM_047426154.1:c.1735G>C, XM_047426155.1:c.1735G>C, XM_047426159.1:c.1735G>C, XM_047426160.1:c.313G>C, NP_065867.2:p.Glu579Gln, NP_001116291.1:p.Glu579Gln, NP_001274141.1:p.Glu479Gln, XP_047282114.1:p.Glu479Gln, XP_047282107.1:p.Glu579Gln, XP_047282102.1:p.Glu579Gln, XP_047282103.1:p.Glu579Gln, XP_047282104.1:p.Glu579Gln, XP_047282105.1:p.Glu579Gln, XP_047282106.1:p.Glu579Gln, XP_047282112.1:p.Glu579Gln, XP_047282113.1:p.Glu579Gln, XP_047282108.1:p.Glu579Gln, XP_047282109.1:p.Glu579Gln, XP_047282110.1:p.Glu579Gln, XP_047282111.1:p.Glu579Gln, XP_047282115.1:p.Glu579Gln, XP_047282116.1:p.Glu105Gln

        4.

        rs1484655526 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          1:20704775 (GRCh38)
          1:21031268 (GRCh37)
          Canonical SPDI:
          NC_000001.11:20704774:C:G
          Gene:
          KIF17 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1484330594 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:20709658 (GRCh38)
            1:21036151 (GRCh37)
            Canonical SPDI:
            NC_000001.11:20709657:G:A
            Gene:
            KIF17 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1484166382 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:20704827 (GRCh38)
              1:21031320 (GRCh37)
              Canonical SPDI:
              NC_000001.11:20704826:G:A
              Gene:
              KIF17 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.20704827G>A, NC_000001.10:g.21031320G>A, NM_020816.4:c.743C>T, NM_020816.3:c.743C>T, NM_020816.2:c.743C>T, NM_001122819.3:c.743C>T, NM_001122819.2:c.743C>T, NM_001122819.1:c.743C>T, NM_001287212.2:c.443C>T, NM_001287212.1:c.443C>T, XR_007062426.1:n.1044C>T, XM_047426158.1:c.443C>T, XM_047426151.1:c.743C>T, XM_047426146.1:c.743C>T, XM_047426147.1:c.743C>T, XM_047426148.1:c.743C>T, XM_047426149.1:c.743C>T, XM_047426150.1:c.743C>T, XM_047426156.1:c.743C>T, XM_047426157.1:c.743C>T, XM_047426152.1:c.743C>T, XM_047426153.1:c.743C>T, XM_047426154.1:c.743C>T, XM_047426155.1:c.743C>T, XM_047426159.1:c.743C>T, XM_047426161.1:c.743C>T, NP_065867.2:p.Ser248Phe, NP_001116291.1:p.Ser248Phe, NP_001274141.1:p.Ser148Phe, XP_047282114.1:p.Ser148Phe, XP_047282107.1:p.Ser248Phe, XP_047282102.1:p.Ser248Phe, XP_047282103.1:p.Ser248Phe, XP_047282104.1:p.Ser248Phe, XP_047282105.1:p.Ser248Phe, XP_047282106.1:p.Ser248Phe, XP_047282112.1:p.Ser248Phe, XP_047282113.1:p.Ser248Phe, XP_047282108.1:p.Ser248Phe, XP_047282109.1:p.Ser248Phe, XP_047282110.1:p.Ser248Phe, XP_047282111.1:p.Ser248Phe, XP_047282115.1:p.Ser248Phe, XP_047282117.1:p.Ser248Phe

              7.

              rs1482647850 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:20717594 (GRCh38)
                1:21044087 (GRCh37)
                Canonical SPDI:
                NC_000001.11:20717593:C:A
                Gene:
                KIF17 (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.20717594C>A, NC_000001.10:g.21044087C>A, NM_020816.4:c.113G>T, NM_020816.3:c.113G>T, NM_020816.2:c.113G>T, NM_001122819.3:c.113G>T, NM_001122819.2:c.113G>T, NM_001122819.1:c.113G>T, NM_001287212.2:c.-315G>T, NM_001287212.1:c.-315G>T, XR_007062426.1:n.414G>T, XM_047426158.1:c.-315G>T, XM_047426151.1:c.113G>T, XM_047426146.1:c.113G>T, XM_047426147.1:c.113G>T, XM_047426148.1:c.113G>T, XM_047426149.1:c.113G>T, XM_047426150.1:c.113G>T, XM_047426156.1:c.113G>T, XM_047426157.1:c.113G>T, XM_047426152.1:c.113G>T, XM_047426153.1:c.113G>T, XM_047426154.1:c.113G>T, XM_047426155.1:c.113G>T, XM_047426159.1:c.113G>T, XM_047426161.1:c.113G>T, NP_065867.2:p.Cys38Phe, NP_001116291.1:p.Cys38Phe, XP_047282107.1:p.Cys38Phe, XP_047282102.1:p.Cys38Phe, XP_047282103.1:p.Cys38Phe, XP_047282104.1:p.Cys38Phe, XP_047282105.1:p.Cys38Phe, XP_047282106.1:p.Cys38Phe, XP_047282112.1:p.Cys38Phe, XP_047282113.1:p.Cys38Phe, XP_047282108.1:p.Cys38Phe, XP_047282109.1:p.Cys38Phe, XP_047282110.1:p.Cys38Phe, XP_047282111.1:p.Cys38Phe, XP_047282115.1:p.Cys38Phe, XP_047282117.1:p.Cys38Phe

                8.

                rs1482142319 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:20717649 (GRCh38)
                  1:21044142 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:20717648:G:A
                  Gene:
                  KIF17 (Varview)
                  Functional Consequence:
                  stop_gained,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                  HGVS:
                  NC_000001.11:g.20717649G>A, NC_000001.10:g.21044142G>A, NM_020816.4:c.58C>T, NM_020816.3:c.58C>T, NM_020816.2:c.58C>T, NM_001122819.3:c.58C>T, NM_001122819.2:c.58C>T, NM_001122819.1:c.58C>T, NM_001287212.2:c.-370C>T, NM_001287212.1:c.-370C>T, XR_007062426.1:n.359C>T, XM_047426158.1:c.-370C>T, XM_047426151.1:c.58C>T, XM_047426146.1:c.58C>T, XM_047426147.1:c.58C>T, XM_047426148.1:c.58C>T, XM_047426149.1:c.58C>T, XM_047426150.1:c.58C>T, XM_047426156.1:c.58C>T, XM_047426157.1:c.58C>T, XM_047426152.1:c.58C>T, XM_047426153.1:c.58C>T, XM_047426154.1:c.58C>T, XM_047426155.1:c.58C>T, XM_047426159.1:c.58C>T, XM_047426161.1:c.58C>T, NP_065867.2:p.Arg20Ter, NP_001116291.1:p.Arg20Ter, XP_047282107.1:p.Arg20Ter, XP_047282102.1:p.Arg20Ter, XP_047282103.1:p.Arg20Ter, XP_047282104.1:p.Arg20Ter, XP_047282105.1:p.Arg20Ter, XP_047282106.1:p.Arg20Ter, XP_047282112.1:p.Arg20Ter, XP_047282113.1:p.Arg20Ter, XP_047282108.1:p.Arg20Ter, XP_047282109.1:p.Arg20Ter, XP_047282110.1:p.Arg20Ter, XP_047282111.1:p.Arg20Ter, XP_047282115.1:p.Arg20Ter, XP_047282117.1:p.Arg20Ter

                  9.

                  rs1480534082 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:20704483 (GRCh38)
                    1:21030976 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:20704482:T:C
                    Gene:
                    KIF17 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    NC_000001.11:g.20704483T>C, NC_000001.10:g.21030976T>C, NM_020816.4:c.1087A>G, NM_020816.3:c.1087A>G, NM_020816.2:c.1087A>G, NM_001122819.3:c.1087A>G, NM_001122819.2:c.1087A>G, NM_001122819.1:c.1087A>G, NM_001287212.2:c.787A>G, NM_001287212.1:c.787A>G, XR_007062426.1:n.1388A>G, XM_047426158.1:c.787A>G, XM_047426151.1:c.1087A>G, XM_047426146.1:c.1087A>G, XM_047426147.1:c.1087A>G, XM_047426148.1:c.1087A>G, XM_047426149.1:c.1087A>G, XM_047426150.1:c.1087A>G, XM_047426156.1:c.1087A>G, XM_047426157.1:c.1087A>G, XM_047426152.1:c.1087A>G, XM_047426153.1:c.1087A>G, XM_047426154.1:c.1087A>G, XM_047426155.1:c.1087A>G, XM_047426159.1:c.1087A>G, XM_047426161.1:c.1087A>G, NP_065867.2:p.Ile363Val, NP_001116291.1:p.Ile363Val, NP_001274141.1:p.Ile263Val, XP_047282114.1:p.Ile263Val, XP_047282107.1:p.Ile363Val, XP_047282102.1:p.Ile363Val, XP_047282103.1:p.Ile363Val, XP_047282104.1:p.Ile363Val, XP_047282105.1:p.Ile363Val, XP_047282106.1:p.Ile363Val, XP_047282112.1:p.Ile363Val, XP_047282113.1:p.Ile363Val, XP_047282108.1:p.Ile363Val, XP_047282109.1:p.Ile363Val, XP_047282110.1:p.Ile363Val, XP_047282111.1:p.Ile363Val, XP_047282115.1:p.Ile363Val, XP_047282117.1:p.Ile363Val

                    10.

                    rs1479605335 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:20717500 (GRCh38)
                      1:21043993 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:20717499:G:A
                      Gene:
                      KIF17 (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1479276190 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        1:20704468 (GRCh38)
                        1:21030961 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:20704467:T:A
                        Gene:
                        KIF17 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.20704468T>A, NC_000001.10:g.21030961T>A, NM_020816.4:c.1102A>T, NM_020816.3:c.1102A>T, NM_020816.2:c.1102A>T, NM_001122819.3:c.1102A>T, NM_001122819.2:c.1102A>T, NM_001122819.1:c.1102A>T, NM_001287212.2:c.802A>T, NM_001287212.1:c.802A>T, XR_007062426.1:n.1403A>T, XM_047426158.1:c.802A>T, XM_047426151.1:c.1102A>T, XM_047426146.1:c.1102A>T, XM_047426147.1:c.1102A>T, XM_047426148.1:c.1102A>T, XM_047426149.1:c.1102A>T, XM_047426150.1:c.1102A>T, XM_047426156.1:c.1102A>T, XM_047426157.1:c.1102A>T, XM_047426152.1:c.1102A>T, XM_047426153.1:c.1102A>T, XM_047426154.1:c.1102A>T, XM_047426155.1:c.1102A>T, XM_047426159.1:c.1102A>T, XM_047426161.1:c.1102A>T, NP_065867.2:p.Met368Leu, NP_001116291.1:p.Met368Leu, NP_001274141.1:p.Met268Leu, XP_047282114.1:p.Met268Leu, XP_047282107.1:p.Met368Leu, XP_047282102.1:p.Met368Leu, XP_047282103.1:p.Met368Leu, XP_047282104.1:p.Met368Leu, XP_047282105.1:p.Met368Leu, XP_047282106.1:p.Met368Leu, XP_047282112.1:p.Met368Leu, XP_047282113.1:p.Met368Leu, XP_047282108.1:p.Met368Leu, XP_047282109.1:p.Met368Leu, XP_047282110.1:p.Met368Leu, XP_047282111.1:p.Met368Leu, XP_047282115.1:p.Met368Leu, XP_047282117.1:p.Met368Leu

                        12.

                        rs1478893100 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:20684884 (GRCh38)
                          1:21011377 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:20684883:T:C
                          Gene:
                          KIF17 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000001.11:g.20684884T>C, NC_000001.10:g.21011377T>C, NM_020816.4:c.2156A>G, NM_020816.3:c.2156A>G, NM_020816.2:c.2156A>G, NM_001122819.3:c.2156A>G, NM_001122819.2:c.2156A>G, NM_001122819.1:c.2156A>G, NM_001287212.2:c.1856A>G, NM_001287212.1:c.1856A>G, XR_007062426.1:n.2457A>G, XM_047426158.1:c.1856A>G, XM_047426151.1:c.2156A>G, XM_047426146.1:c.2156A>G, XM_047426147.1:c.2156A>G, XM_047426148.1:c.2156A>G, XM_047426149.1:c.2156A>G, XM_047426150.1:c.2156A>G, XM_047426156.1:c.2156A>G, XM_047426157.1:c.2156A>G, XM_047426152.1:c.2156A>G, XM_047426153.1:c.2156A>G, XM_047426154.1:c.2156A>G, XM_047426155.1:c.2156A>G, XM_047426160.1:c.734A>G, NP_065867.2:p.Glu719Gly, NP_001116291.1:p.Glu719Gly, NP_001274141.1:p.Glu619Gly, XP_047282114.1:p.Glu619Gly, XP_047282107.1:p.Glu719Gly, XP_047282102.1:p.Glu719Gly, XP_047282103.1:p.Glu719Gly, XP_047282104.1:p.Glu719Gly, XP_047282105.1:p.Glu719Gly, XP_047282106.1:p.Glu719Gly, XP_047282112.1:p.Glu719Gly, XP_047282113.1:p.Glu719Gly, XP_047282108.1:p.Glu719Gly, XP_047282109.1:p.Glu719Gly, XP_047282110.1:p.Glu719Gly, XP_047282111.1:p.Glu719Gly, XP_047282116.1:p.Glu245Gly

                          13.

                          rs1478383271 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:20704765 (GRCh38)
                            1:21031258 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:20704764:C:T
                            Gene:
                            KIF17 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000001.11:g.20704765C>T, NC_000001.10:g.21031258C>T, NM_020816.4:c.805G>A, NM_020816.3:c.805G>A, NM_020816.2:c.805G>A, NM_001122819.3:c.805G>A, NM_001122819.2:c.805G>A, NM_001122819.1:c.805G>A, NM_001287212.2:c.505G>A, NM_001287212.1:c.505G>A, XR_007062426.1:n.1106G>A, XM_047426158.1:c.505G>A, XM_047426151.1:c.805G>A, XM_047426146.1:c.805G>A, XM_047426147.1:c.805G>A, XM_047426148.1:c.805G>A, XM_047426149.1:c.805G>A, XM_047426150.1:c.805G>A, XM_047426156.1:c.805G>A, XM_047426157.1:c.805G>A, XM_047426152.1:c.805G>A, XM_047426153.1:c.805G>A, XM_047426154.1:c.805G>A, XM_047426155.1:c.805G>A, XM_047426159.1:c.805G>A, XM_047426161.1:c.805G>A, NP_065867.2:p.Ala269Thr, NP_001116291.1:p.Ala269Thr, NP_001274141.1:p.Ala169Thr, XP_047282114.1:p.Ala169Thr, XP_047282107.1:p.Ala269Thr, XP_047282102.1:p.Ala269Thr, XP_047282103.1:p.Ala269Thr, XP_047282104.1:p.Ala269Thr, XP_047282105.1:p.Ala269Thr, XP_047282106.1:p.Ala269Thr, XP_047282112.1:p.Ala269Thr, XP_047282113.1:p.Ala269Thr, XP_047282108.1:p.Ala269Thr, XP_047282109.1:p.Ala269Thr, XP_047282110.1:p.Ala269Thr, XP_047282111.1:p.Ala269Thr, XP_047282115.1:p.Ala269Thr, XP_047282117.1:p.Ala269Thr

                            14.

                            rs1478277348 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:20717505 (GRCh38)
                              1:21043998 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:20717504:A:G
                              Gene:
                              KIF17 (Varview)
                              Functional Consequence:
                              missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.20717505A>G, NC_000001.10:g.21043998A>G, NM_020816.4:c.202T>C, NM_020816.3:c.202T>C, NM_020816.2:c.202T>C, NM_001122819.3:c.202T>C, NM_001122819.2:c.202T>C, NM_001122819.1:c.202T>C, NM_001287212.2:c.-226T>C, NM_001287212.1:c.-226T>C, XR_007062426.1:n.503T>C, XM_047426158.1:c.-226T>C, XM_047426151.1:c.202T>C, XM_047426146.1:c.202T>C, XM_047426147.1:c.202T>C, XM_047426148.1:c.202T>C, XM_047426149.1:c.202T>C, XM_047426150.1:c.202T>C, XM_047426156.1:c.202T>C, XM_047426157.1:c.202T>C, XM_047426152.1:c.202T>C, XM_047426153.1:c.202T>C, XM_047426154.1:c.202T>C, XM_047426155.1:c.202T>C, XM_047426159.1:c.202T>C, XM_047426161.1:c.202T>C, NP_065867.2:p.Tyr68His, NP_001116291.1:p.Tyr68His, XP_047282107.1:p.Tyr68His, XP_047282102.1:p.Tyr68His, XP_047282103.1:p.Tyr68His, XP_047282104.1:p.Tyr68His, XP_047282105.1:p.Tyr68His, XP_047282106.1:p.Tyr68His, XP_047282112.1:p.Tyr68His, XP_047282113.1:p.Tyr68His, XP_047282108.1:p.Tyr68His, XP_047282109.1:p.Tyr68His, XP_047282110.1:p.Tyr68His, XP_047282111.1:p.Tyr68His, XP_047282115.1:p.Tyr68His, XP_047282117.1:p.Tyr68His

                              15.

                              rs1476916559 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:20664689 (GRCh38)
                                1:20991182 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:20664688:A:G
                                Gene:
                                KIF17 (Varview)
                                Functional Consequence:
                                missense_variant,synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.05985/710 (ALFA)
                                G=0.05594/162 (KOREAN)
                                HGVS:

                                16.

                                rs1476561096 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:20670480 (GRCh38)
                                  1:20996973 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:20670479:C:T
                                  Gene:
                                  KIF17 (Varview)
                                  Functional Consequence:
                                  missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.20670480C>T, NC_000001.10:g.20996973C>T, NM_020816.4:c.2734G>A, NM_020816.3:c.2734G>A, NM_020816.2:c.2734G>A, NM_001122819.3:c.2731G>A, NM_001122819.2:c.2731G>A, NM_001122819.1:c.2731G>A, NM_001287212.2:c.2434G>A, NM_001287212.1:c.2434G>A, XR_007062426.1:n.3035G>A, XM_047426158.1:c.2430G>A, XM_047426151.1:c.2734G>A, XM_047426146.1:c.2730G>A, XM_047426147.1:c.2727G>A, XM_047426148.1:c.2734G>A, XM_047426149.1:c.2731G>A, XM_047426150.1:c.2730G>A, XM_047426156.1:c.2734G>A, XM_047426157.1:c.2731G>A, XM_047426152.1:c.2730G>A, XM_047426153.1:c.2734G>A, XM_047426154.1:c.2731G>A, XM_047426155.1:c.2730G>A, XM_047426160.1:c.1308G>A, NP_065867.2:p.Gly912Arg, NP_001116291.1:p.Gly911Arg, NP_001274141.1:p.Gly812Arg, XP_047282107.1:p.Gly912Arg, XP_047282104.1:p.Gly912Arg, XP_047282105.1:p.Gly911Arg, XP_047282112.1:p.Gly912Arg, XP_047282113.1:p.Gly911Arg, XP_047282109.1:p.Gly912Arg, XP_047282110.1:p.Gly911Arg

                                  17.

                                  rs1475830383 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:20704533 (GRCh38)
                                    1:21031026 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:20704532:T:C
                                    Gene:
                                    KIF17 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (GnomAD_exomes)
                                    C=0.000015/4 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.20704533T>C, NC_000001.10:g.21031026T>C, NM_020816.4:c.1037A>G, NM_020816.3:c.1037A>G, NM_020816.2:c.1037A>G, NM_001122819.3:c.1037A>G, NM_001122819.2:c.1037A>G, NM_001122819.1:c.1037A>G, NM_001287212.2:c.737A>G, NM_001287212.1:c.737A>G, XR_007062426.1:n.1338A>G, XM_047426158.1:c.737A>G, XM_047426151.1:c.1037A>G, XM_047426146.1:c.1037A>G, XM_047426147.1:c.1037A>G, XM_047426148.1:c.1037A>G, XM_047426149.1:c.1037A>G, XM_047426150.1:c.1037A>G, XM_047426156.1:c.1037A>G, XM_047426157.1:c.1037A>G, XM_047426152.1:c.1037A>G, XM_047426153.1:c.1037A>G, XM_047426154.1:c.1037A>G, XM_047426155.1:c.1037A>G, XM_047426159.1:c.1037A>G, XM_047426161.1:c.1037A>G, NP_065867.2:p.Lys346Arg, NP_001116291.1:p.Lys346Arg, NP_001274141.1:p.Lys246Arg, XP_047282114.1:p.Lys246Arg, XP_047282107.1:p.Lys346Arg, XP_047282102.1:p.Lys346Arg, XP_047282103.1:p.Lys346Arg, XP_047282104.1:p.Lys346Arg, XP_047282105.1:p.Lys346Arg, XP_047282106.1:p.Lys346Arg, XP_047282112.1:p.Lys346Arg, XP_047282113.1:p.Lys346Arg, XP_047282108.1:p.Lys346Arg, XP_047282109.1:p.Lys346Arg, XP_047282110.1:p.Lys346Arg, XP_047282111.1:p.Lys346Arg, XP_047282115.1:p.Lys346Arg, XP_047282117.1:p.Lys346Arg

                                    18.

                                    rs1475709320 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:20687639 (GRCh38)
                                      1:21014132 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:20687638:C:G
                                      Gene:
                                      KIF17 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.20687639C>G, NC_000001.10:g.21014132C>G, NM_020816.4:c.1687G>C, NM_020816.3:c.1687G>C, NM_020816.2:c.1687G>C, NM_001122819.3:c.1687G>C, NM_001122819.2:c.1687G>C, NM_001122819.1:c.1687G>C, NM_001287212.2:c.1387G>C, NM_001287212.1:c.1387G>C, XR_007062426.1:n.1988G>C, XM_047426158.1:c.1387G>C, XM_047426151.1:c.1687G>C, XM_047426146.1:c.1687G>C, XM_047426147.1:c.1687G>C, XM_047426148.1:c.1687G>C, XM_047426149.1:c.1687G>C, XM_047426150.1:c.1687G>C, XM_047426156.1:c.1687G>C, XM_047426157.1:c.1687G>C, XM_047426152.1:c.1687G>C, XM_047426153.1:c.1687G>C, XM_047426154.1:c.1687G>C, XM_047426155.1:c.1687G>C, XM_047426159.1:c.1687G>C, XM_047426160.1:c.265G>C, NP_065867.2:p.Glu563Gln, NP_001116291.1:p.Glu563Gln, NP_001274141.1:p.Glu463Gln, XP_047282114.1:p.Glu463Gln, XP_047282107.1:p.Glu563Gln, XP_047282102.1:p.Glu563Gln, XP_047282103.1:p.Glu563Gln, XP_047282104.1:p.Glu563Gln, XP_047282105.1:p.Glu563Gln, XP_047282106.1:p.Glu563Gln, XP_047282112.1:p.Glu563Gln, XP_047282113.1:p.Glu563Gln, XP_047282108.1:p.Glu563Gln, XP_047282109.1:p.Glu563Gln, XP_047282110.1:p.Glu563Gln, XP_047282111.1:p.Glu563Gln, XP_047282115.1:p.Glu563Gln, XP_047282116.1:p.Glu89Gln

                                      19.

                                      rs1475574613 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        1:20687936 (GRCh38)
                                        1:21014429 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:20687935:G:A,NC_000001.11:20687935:G:C
                                        Gene:
                                        KIF17 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.20687936G>A, NC_000001.11:g.20687936G>C, NC_000001.10:g.21014429G>A, NC_000001.10:g.21014429G>C, NM_020816.4:c.1390C>T, NM_020816.4:c.1390C>G, NM_020816.3:c.1390C>T, NM_020816.3:c.1390C>G, NM_020816.2:c.1390C>T, NM_020816.2:c.1390C>G, NM_001122819.3:c.1390C>T, NM_001122819.3:c.1390C>G, NM_001122819.2:c.1390C>T, NM_001122819.2:c.1390C>G, NM_001122819.1:c.1390C>T, NM_001122819.1:c.1390C>G, NM_001287212.2:c.1090C>T, NM_001287212.2:c.1090C>G, NM_001287212.1:c.1090C>T, NM_001287212.1:c.1090C>G, XR_007062426.1:n.1691C>T, XR_007062426.1:n.1691C>G, XM_047426158.1:c.1090C>T, XM_047426158.1:c.1090C>G, XM_047426151.1:c.1390C>T, XM_047426151.1:c.1390C>G, XM_047426146.1:c.1390C>T, XM_047426146.1:c.1390C>G, XM_047426147.1:c.1390C>T, XM_047426147.1:c.1390C>G, XM_047426148.1:c.1390C>T, XM_047426148.1:c.1390C>G, XM_047426149.1:c.1390C>T, XM_047426149.1:c.1390C>G, XM_047426150.1:c.1390C>T, XM_047426150.1:c.1390C>G, XM_047426156.1:c.1390C>T, XM_047426156.1:c.1390C>G, XM_047426157.1:c.1390C>T, XM_047426157.1:c.1390C>G, XM_047426152.1:c.1390C>T, XM_047426152.1:c.1390C>G, XM_047426153.1:c.1390C>T, XM_047426153.1:c.1390C>G, XM_047426154.1:c.1390C>T, XM_047426154.1:c.1390C>G, XM_047426155.1:c.1390C>T, XM_047426155.1:c.1390C>G, XM_047426159.1:c.1390C>T, XM_047426159.1:c.1390C>G, XM_047426160.1:c.-33C>T, XM_047426160.1:c.-33C>G, NP_065867.2:p.Leu464Val, NP_001116291.1:p.Leu464Val, NP_001274141.1:p.Leu364Val, XP_047282114.1:p.Leu364Val, XP_047282107.1:p.Leu464Val, XP_047282102.1:p.Leu464Val, XP_047282103.1:p.Leu464Val, XP_047282104.1:p.Leu464Val, XP_047282105.1:p.Leu464Val, XP_047282106.1:p.Leu464Val, XP_047282112.1:p.Leu464Val, XP_047282113.1:p.Leu464Val, XP_047282108.1:p.Leu464Val, XP_047282109.1:p.Leu464Val, XP_047282110.1:p.Leu464Val, XP_047282111.1:p.Leu464Val, XP_047282115.1:p.Leu464Val

                                        20.

                                        rs1474258144 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:20709762 (GRCh38)
                                          1:21036255 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:20709761:C:T
                                          Gene:
                                          KIF17 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000012/3 (GnomAD_exomes)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.20709762C>T, NC_000001.10:g.21036255C>T, NM_020816.4:c.547G>A, NM_020816.3:c.547G>A, NM_020816.2:c.547G>A, NM_001122819.3:c.547G>A, NM_001122819.2:c.547G>A, NM_001122819.1:c.547G>A, NM_001287212.2:c.247G>A, NM_001287212.1:c.247G>A, XR_007062426.1:n.848G>A, XM_047426158.1:c.247G>A, XM_047426151.1:c.547G>A, XM_047426146.1:c.547G>A, XM_047426147.1:c.547G>A, XM_047426148.1:c.547G>A, XM_047426149.1:c.547G>A, XM_047426150.1:c.547G>A, XM_047426156.1:c.547G>A, XM_047426157.1:c.547G>A, XM_047426152.1:c.547G>A, XM_047426153.1:c.547G>A, XM_047426154.1:c.547G>A, XM_047426155.1:c.547G>A, XM_047426159.1:c.547G>A, XM_047426161.1:c.547G>A, NP_065867.2:p.Ala183Thr, NP_001116291.1:p.Ala183Thr, NP_001274141.1:p.Ala83Thr, XP_047282114.1:p.Ala83Thr, XP_047282107.1:p.Ala183Thr, XP_047282102.1:p.Ala183Thr, XP_047282103.1:p.Ala183Thr, XP_047282104.1:p.Ala183Thr, XP_047282105.1:p.Ala183Thr, XP_047282106.1:p.Ala183Thr, XP_047282112.1:p.Ala183Thr, XP_047282113.1:p.Ala183Thr, XP_047282108.1:p.Ala183Thr, XP_047282109.1:p.Ala183Thr, XP_047282110.1:p.Ala183Thr, XP_047282111.1:p.Ala183Thr, XP_047282115.1:p.Ala183Thr, XP_047282117.1:p.Ala183Thr

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