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Items: 1 to 20 of 800

1.

rs1488963049 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:47264295 (GRCh38)
    3:47305785 (GRCh37)
    Canonical SPDI:
    NC_000003.12:47264294:T:C
    Gene:
    KIF9 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000051/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.47264295T>C, NC_000003.11:g.47305785T>C, NM_022342.6:c.972A>G, NM_022342.5:c.972A>G, NM_022342.4:c.972A>G, XM_005265388.5:c.1071A>G, XM_005265388.4:c.1071A>G, XM_005265388.3:c.1071A>G, XM_005265388.2:c.1071A>G, XM_005265388.1:c.1071A>G, XM_005265389.5:c.1071A>G, XM_005265389.4:c.1071A>G, XM_005265389.3:c.1071A>G, XM_005265389.2:c.1071A>G, XM_005265389.1:c.1071A>G, NM_182902.4:c.972A>G, NM_182902.3:c.972A>G, XM_006713291.4:c.846A>G, XM_006713291.3:c.846A>G, XM_006713291.2:c.846A>G, XM_006713291.1:c.846A>G, NM_001134878.3:c.972A>G, NM_001134878.2:c.972A>G, NM_001134878.1:c.972A>G, XM_011534003.3:c.1014A>G, XM_011534003.2:c.1014A>G, XM_011534003.1:c.1014A>G, XM_011534007.3:c.-65A>G, XM_011534007.2:c.-65A>G, XM_017007029.2:c.972A>G, XM_017007029.1:c.972A>G, NM_182903.2:c.972A>G, XM_047448709.1:c.972A>G, NM_001377474.1:c.747A>G, XM_047448711.1:c.693A>G, NM_001377475.1:c.747A>G, XM_047448712.1:c.846A>G, XM_047448710.1:c.1071A>G, XM_047448713.1:c.693A>G, NM_182903.1:c.972A>G

    2.

    rs1487999709 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      3:47247411 (GRCh38)
      3:47288901 (GRCh37)
      Canonical SPDI:
      NC_000003.12:47247410:C:G
      Gene:
      KIF9 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_downstream_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_000003.12:g.47247411C>G, NC_000003.11:g.47288901C>G, NM_022342.6:c.1195G>C, NM_022342.5:c.1195G>C, NM_022342.4:c.1195G>C, XM_005265388.5:c.1294G>C, XM_005265388.4:c.1294G>C, XM_005265388.3:c.1294G>C, XM_005265388.2:c.1294G>C, XM_005265388.1:c.1294G>C, XM_005265389.5:c.1294G>C, XM_005265389.4:c.1294G>C, XM_005265389.3:c.1294G>C, XM_005265389.2:c.1294G>C, XM_005265389.1:c.1294G>C, NM_182902.4:c.1195G>C, NM_182902.3:c.1195G>C, XM_006713291.4:c.1069G>C, XM_006713291.3:c.1069G>C, XM_006713291.2:c.1069G>C, XM_006713291.1:c.1069G>C, NM_001134878.3:c.1195G>C, NM_001134878.2:c.1195G>C, NM_001134878.1:c.1195G>C, XM_011534003.3:c.1237G>C, XM_011534003.2:c.1237G>C, XM_011534003.1:c.1237G>C, XM_011534007.3:c.226G>C, XM_011534007.2:c.226G>C, XM_011534007.1:c.226G>C, XM_017007029.2:c.1195G>C, XM_017007029.1:c.1195G>C, NM_182903.2:c.1195G>C, XM_047448709.1:c.1195G>C, NM_001377474.1:c.970G>C, XM_047448711.1:c.916G>C, NM_001377475.1:c.970G>C, XM_047448712.1:c.1069G>C, XM_047448710.1:c.1294G>C, XM_047448713.1:c.916G>C, NM_182903.1:c.1195G>C, NP_071737.1:p.Val399Leu, XP_005265445.1:p.Val432Leu, XP_005265446.1:p.Val432Leu, NP_878905.2:p.Val399Leu, XP_006713354.1:p.Val357Leu, NP_001128350.1:p.Val399Leu, XP_011532305.1:p.Val413Leu, XP_011532309.1:p.Val76Leu, XP_016862518.1:p.Val399Leu, XP_047304665.1:p.Val399Leu, NP_001364403.1:p.Val324Leu, XP_047304667.1:p.Val306Leu, NP_001364404.1:p.Val324Leu, XP_047304668.1:p.Val357Leu, XP_047304666.1:p.Val432Leu, XP_047304669.1:p.Val306Leu

      3.

      rs1486424131 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:47244866 (GRCh38)
        3:47286356 (GRCh37)
        Canonical SPDI:
        NC_000003.12:47244865:C:T
        Gene:
        KIF9 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000003.12:g.47244866C>T, NC_000003.11:g.47286356C>T, NM_022342.6:c.1439G>A, NM_022342.5:c.1439G>A, NM_022342.4:c.1439G>A, XM_005265388.5:c.1538G>A, XM_005265388.4:c.1538G>A, XM_005265388.3:c.1538G>A, XM_005265388.2:c.1538G>A, XM_005265388.1:c.1538G>A, XM_005265389.5:c.1538G>A, XM_005265389.4:c.1538G>A, XM_005265389.3:c.1538G>A, XM_005265389.2:c.1538G>A, XM_005265389.1:c.1538G>A, NM_182902.4:c.1439G>A, NM_182902.3:c.1439G>A, XM_006713291.4:c.1313G>A, XM_006713291.3:c.1313G>A, XM_006713291.2:c.1313G>A, XM_006713291.1:c.1313G>A, NM_001134878.3:c.1439G>A, NM_001134878.2:c.1439G>A, NM_001134878.1:c.1439G>A, XM_011534003.3:c.1481G>A, XM_011534003.2:c.1481G>A, XM_011534003.1:c.1481G>A, XM_011534007.3:c.470G>A, XM_011534007.2:c.470G>A, XM_011534007.1:c.470G>A, XM_017007029.2:c.1439G>A, XM_017007029.1:c.1439G>A, NM_182903.2:c.1439G>A, XM_047448709.1:c.1439G>A, NM_001377474.1:c.1214G>A, XM_047448711.1:c.1160G>A, NM_001377475.1:c.1214G>A, XM_047448712.1:c.1313G>A, XM_047448710.1:c.1538G>A, XM_047448713.1:c.1160G>A, NM_182903.1:c.1439G>A, NP_071737.1:p.Gly480Glu, XP_005265445.1:p.Gly513Glu, XP_005265446.1:p.Gly513Glu, NP_878905.2:p.Gly480Glu, XP_006713354.1:p.Gly438Glu, NP_001128350.1:p.Gly480Glu, XP_011532305.1:p.Gly494Glu, XP_011532309.1:p.Gly157Glu, XP_016862518.1:p.Gly480Glu, XP_047304665.1:p.Gly480Glu, NP_001364403.1:p.Gly405Glu, XP_047304667.1:p.Gly387Glu, NP_001364404.1:p.Gly405Glu, XP_047304668.1:p.Gly438Glu, XP_047304666.1:p.Gly513Glu, XP_047304669.1:p.Gly387Glu

        4.

        rs1486421310 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:47245434 (GRCh38)
          3:47286924 (GRCh37)
          Canonical SPDI:
          NC_000003.12:47245433:G:A
          Gene:
          KIF9 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.47245434G>A, NC_000003.11:g.47286924G>A, NM_022342.6:c.1367C>T, NM_022342.5:c.1367C>T, NM_022342.4:c.1367C>T, XM_005265388.5:c.1466C>T, XM_005265388.4:c.1466C>T, XM_005265388.3:c.1466C>T, XM_005265388.2:c.1466C>T, XM_005265388.1:c.1466C>T, XM_005265389.5:c.1466C>T, XM_005265389.4:c.1466C>T, XM_005265389.3:c.1466C>T, XM_005265389.2:c.1466C>T, XM_005265389.1:c.1466C>T, NM_182902.4:c.1367C>T, NM_182902.3:c.1367C>T, XM_006713291.4:c.1241C>T, XM_006713291.3:c.1241C>T, XM_006713291.2:c.1241C>T, XM_006713291.1:c.1241C>T, NM_001134878.3:c.1367C>T, NM_001134878.2:c.1367C>T, NM_001134878.1:c.1367C>T, XM_011534003.3:c.1409C>T, XM_011534003.2:c.1409C>T, XM_011534003.1:c.1409C>T, XM_011534007.3:c.398C>T, XM_011534007.2:c.398C>T, XM_011534007.1:c.398C>T, XM_017007029.2:c.1367C>T, XM_017007029.1:c.1367C>T, NM_182903.2:c.1367C>T, XM_047448709.1:c.1367C>T, NM_001377474.1:c.1142C>T, XM_047448711.1:c.1088C>T, NM_001377475.1:c.1142C>T, XM_047448712.1:c.1241C>T, XM_047448710.1:c.1466C>T, XM_047448713.1:c.1088C>T, NM_182903.1:c.1367C>T, NP_071737.1:p.Ser456Phe, XP_005265445.1:p.Ser489Phe, XP_005265446.1:p.Ser489Phe, NP_878905.2:p.Ser456Phe, XP_006713354.1:p.Ser414Phe, NP_001128350.1:p.Ser456Phe, XP_011532305.1:p.Ser470Phe, XP_011532309.1:p.Ser133Phe, XP_016862518.1:p.Ser456Phe, XP_047304665.1:p.Ser456Phe, NP_001364403.1:p.Ser381Phe, XP_047304667.1:p.Ser363Phe, NP_001364404.1:p.Ser381Phe, XP_047304668.1:p.Ser414Phe, XP_047304666.1:p.Ser489Phe, XP_047304669.1:p.Ser363Phe

          5.

          rs1485637928 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:47275356 (GRCh38)
            3:47316846 (GRCh37)
            Canonical SPDI:
            NC_000003.12:47275355:A:G
            Gene:
            KIF9 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,synonymous_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000003.12:g.47275356A>G, NC_000003.11:g.47316846A>G, NM_022342.6:c.228T>C, NM_022342.5:c.228T>C, NM_022342.4:c.228T>C, XM_005265388.5:c.327T>C, XM_005265388.4:c.327T>C, XM_005265388.3:c.327T>C, XM_005265388.2:c.327T>C, XM_005265388.1:c.327T>C, XM_005265389.5:c.327T>C, XM_005265389.4:c.327T>C, XM_005265389.3:c.327T>C, XM_005265389.2:c.327T>C, XM_005265389.1:c.327T>C, NM_182902.4:c.228T>C, NM_182902.3:c.228T>C, XM_006713291.4:c.327T>C, XM_006713291.3:c.327T>C, XM_006713291.2:c.327T>C, XM_006713291.1:c.327T>C, NM_001134878.3:c.228T>C, NM_001134878.2:c.228T>C, NM_001134878.1:c.228T>C, XM_011534003.3:c.270T>C, XM_011534003.2:c.270T>C, XM_011534003.1:c.270T>C, XM_017007029.2:c.228T>C, XM_017007029.1:c.228T>C, NM_182903.2:c.228T>C, XM_047448709.1:c.228T>C, NM_001377474.1:c.228T>C, XM_047448711.1:c.56T>C, NM_001377475.1:c.228T>C, XM_047448712.1:c.327T>C, XM_047448710.1:c.327T>C, XM_047448713.1:c.56T>C, NM_001377477.1:c.228T>C, NM_001377476.1:c.228T>C, NM_182903.1:c.228T>C, XP_047304667.1:p.Met19Thr, XP_047304669.1:p.Met19Thr

            6.

            rs1484456301 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              3:47240979 (GRCh38)
              3:47282469 (GRCh37)
              Canonical SPDI:
              NC_000003.12:47240978:C:A,NC_000003.12:47240978:C:T
              Gene:
              KIF9 (Varview), KIF9-AS1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              T=0.000008/2 (GnomAD_exomes)
              A=0.000011/3 (TOPMED)
              A=0.000029/4 (GnomAD)
              HGVS:
              NC_000003.12:g.47240979C>A, NC_000003.12:g.47240979C>T, NC_000003.11:g.47282469C>A, NC_000003.11:g.47282469C>T, NM_022342.6:c.1551G>T, NM_022342.6:c.1551G>A, NM_022342.5:c.1551G>T, NM_022342.5:c.1551G>A, NM_022342.4:c.1551G>T, NM_022342.4:c.1551G>A, XM_005265388.5:c.1845G>T, XM_005265388.5:c.1845G>A, XM_005265388.4:c.1845G>T, XM_005265388.4:c.1845G>A, XM_005265388.3:c.1845G>T, XM_005265388.3:c.1845G>A, XM_005265388.2:c.1845G>T, XM_005265388.2:c.1845G>A, XM_005265388.1:c.1845G>T, XM_005265388.1:c.1845G>A, XM_005265389.5:c.1650G>T, XM_005265389.5:c.1650G>A, XM_005265389.4:c.1650G>T, XM_005265389.4:c.1650G>A, XM_005265389.3:c.1650G>T, XM_005265389.3:c.1650G>A, XM_005265389.2:c.1650G>T, XM_005265389.2:c.1650G>A, XM_005265389.1:c.1650G>T, XM_005265389.1:c.1650G>A, NM_182902.4:c.1746G>T, NM_182902.4:c.1746G>A, NM_182902.3:c.1746G>T, NM_182902.3:c.1746G>A, XM_006713291.4:c.1620G>T, XM_006713291.4:c.1620G>A, XM_006713291.3:c.1620G>T, XM_006713291.3:c.1620G>A, XM_006713291.2:c.1620G>T, XM_006713291.2:c.1620G>A, XM_006713291.1:c.1620G>T, XM_006713291.1:c.1620G>A, NM_001134878.3:c.1746G>T, NM_001134878.3:c.1746G>A, NM_001134878.2:c.1746G>T, NM_001134878.2:c.1746G>A, NM_001134878.1:c.1746G>T, NM_001134878.1:c.1746G>A, XM_011534003.3:c.1788G>T, XM_011534003.3:c.1788G>A, XM_011534003.2:c.1788G>T, XM_011534003.2:c.1788G>A, XM_011534003.1:c.1788G>T, XM_011534003.1:c.1788G>A, XM_011534007.3:c.777G>T, XM_011534007.3:c.777G>A, XM_011534007.2:c.777G>T, XM_011534007.2:c.777G>A, XM_011534007.1:c.777G>T, XM_011534007.1:c.777G>A, XM_017007029.2:c.1746G>T, XM_017007029.2:c.1746G>A, XM_017007029.1:c.1746G>T, XM_017007029.1:c.1746G>A, NM_182903.2:c.1746G>T, NM_182903.2:c.1746G>A, XM_047448709.1:c.1746G>T, XM_047448709.1:c.1746G>A, NM_001377474.1:c.1521G>T, NM_001377474.1:c.1521G>A, XM_047448711.1:c.1467G>T, XM_047448711.1:c.1467G>A, NM_001377475.1:c.1326G>T, NM_001377475.1:c.1326G>A, XM_047448712.1:c.1425G>T, XM_047448712.1:c.1425G>A, XM_047448710.1:c.1845G>T, XM_047448710.1:c.1845G>A, XM_047448713.1:c.1272G>T, XM_047448713.1:c.1272G>A, NM_182903.1:c.1746G>T, NM_182903.1:c.1746G>A, NP_071737.1:p.Glu517Asp, XP_005265445.1:p.Glu615Asp, XP_005265446.1:p.Glu550Asp, NP_878905.2:p.Glu582Asp, XP_006713354.1:p.Glu540Asp, NP_001128350.1:p.Glu582Asp, XP_011532305.1:p.Glu596Asp, XP_011532309.1:p.Glu259Asp, XP_016862518.1:p.Glu582Asp, XP_047304665.1:p.Glu582Asp, NP_001364403.1:p.Glu507Asp, XP_047304667.1:p.Glu489Asp, NP_001364404.1:p.Glu442Asp, XP_047304668.1:p.Glu475Asp, XP_047304666.1:p.Glu615Asp, XP_047304669.1:p.Glu424Asp

              7.

              rs1484140803 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                3:47236084 (GRCh38)
                3:47277574 (GRCh37)
                Canonical SPDI:
                NC_000003.12:47236083:C:G
                Gene:
                KIF9 (Varview), KIF9-AS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000012/3 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.47236084C>G, NC_000003.11:g.47277574C>G, NM_022342.6:c.1972G>C, NM_022342.5:c.1972G>C, NM_022342.4:c.1972G>C, XM_005265388.5:c.2266G>C, XM_005265388.4:c.2266G>C, XM_005265388.3:c.2266G>C, XM_005265388.2:c.2266G>C, XM_005265388.1:c.2266G>C, XM_005265389.5:c.2071G>C, XM_005265389.4:c.2071G>C, XM_005265389.3:c.2071G>C, XM_005265389.2:c.2071G>C, XM_005265389.1:c.2071G>C, NM_182902.4:c.2167G>C, NM_182902.3:c.2167G>C, XM_006713291.4:c.2041G>C, XM_006713291.3:c.2041G>C, XM_006713291.2:c.2041G>C, XM_006713291.1:c.2041G>C, NM_001134878.3:c.2167G>C, NM_001134878.2:c.2167G>C, NM_001134878.1:c.2167G>C, XM_011534003.3:c.2209G>C, XM_011534003.2:c.2209G>C, XM_011534003.1:c.2209G>C, XM_011534007.3:c.1198G>C, XM_011534007.2:c.1198G>C, XM_011534007.1:c.1198G>C, XM_017007029.2:c.2167G>C, XM_017007029.1:c.2167G>C, XM_047448709.1:c.2167G>C, NM_001377474.1:c.1942G>C, XM_047448711.1:c.1888G>C, NM_001377475.1:c.1747G>C, XM_047448712.1:c.1846G>C, NR_033373.1:n.581C>G, XM_047448710.1:c.*6G>C, XM_047448713.1:c.*6G>C, NP_071737.1:p.Gly658Arg, XP_005265445.1:p.Gly756Arg, XP_005265446.1:p.Gly691Arg, NP_878905.2:p.Gly723Arg, XP_006713354.1:p.Gly681Arg, NP_001128350.1:p.Gly723Arg, XP_011532305.1:p.Gly737Arg, XP_011532309.1:p.Gly400Arg, XP_016862518.1:p.Gly723Arg, XP_047304665.1:p.Gly723Arg, NP_001364403.1:p.Gly648Arg, XP_047304667.1:p.Gly630Arg, NP_001364404.1:p.Gly583Arg, XP_047304668.1:p.Gly616Arg

                8.

                rs1483156092 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  3:47257513 (GRCh38)
                  3:47299003 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:47257512:C:A
                  Gene:
                  KIF9 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                  HGVS:
                  NC_000003.12:g.47257513C>A, NC_000003.11:g.47299003C>A, NM_022342.6:c.1029G>T, NM_022342.5:c.1029G>T, NM_022342.4:c.1029G>T, XM_005265388.5:c.1128G>T, XM_005265388.4:c.1128G>T, XM_005265388.3:c.1128G>T, XM_005265388.2:c.1128G>T, XM_005265388.1:c.1128G>T, XM_005265389.5:c.1128G>T, XM_005265389.4:c.1128G>T, XM_005265389.3:c.1128G>T, XM_005265389.2:c.1128G>T, XM_005265389.1:c.1128G>T, NM_182902.4:c.1029G>T, NM_182902.3:c.1029G>T, XM_006713291.4:c.903G>T, XM_006713291.3:c.903G>T, XM_006713291.2:c.903G>T, XM_006713291.1:c.903G>T, NM_001134878.3:c.1029G>T, NM_001134878.2:c.1029G>T, NM_001134878.1:c.1029G>T, XM_011534003.3:c.1071G>T, XM_011534003.2:c.1071G>T, XM_011534003.1:c.1071G>T, XM_011534007.3:c.60G>T, XM_011534007.2:c.60G>T, XM_011534007.1:c.60G>T, XM_017007029.2:c.1029G>T, XM_017007029.1:c.1029G>T, NM_182903.2:c.1029G>T, XM_047448709.1:c.1029G>T, NM_001377474.1:c.804G>T, XM_047448711.1:c.750G>T, NM_001377475.1:c.804G>T, XM_047448712.1:c.903G>T, XM_047448710.1:c.1128G>T, XM_047448713.1:c.750G>T, NM_182903.1:c.1029G>T, NP_071737.1:p.Glu343Asp, XP_005265445.1:p.Glu376Asp, XP_005265446.1:p.Glu376Asp, NP_878905.2:p.Glu343Asp, XP_006713354.1:p.Glu301Asp, NP_001128350.1:p.Glu343Asp, XP_011532305.1:p.Glu357Asp, XP_011532309.1:p.Glu20Asp, XP_016862518.1:p.Glu343Asp, XP_047304665.1:p.Glu343Asp, NP_001364403.1:p.Glu268Asp, XP_047304667.1:p.Glu250Asp, NP_001364404.1:p.Glu268Asp, XP_047304668.1:p.Glu301Asp, XP_047304666.1:p.Glu376Asp, XP_047304669.1:p.Glu250Asp

                  9.

                  rs1483085614 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:47267033 (GRCh38)
                    3:47308523 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:47267032:G:A
                    Gene:
                    KIF9 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.47267033G>A, NC_000003.11:g.47308523G>A, NM_022342.6:c.711C>T, NM_022342.5:c.711C>T, NM_022342.4:c.711C>T, XM_005265388.5:c.810C>T, XM_005265388.4:c.810C>T, XM_005265388.3:c.810C>T, XM_005265388.2:c.810C>T, XM_005265388.1:c.810C>T, XM_005265389.5:c.810C>T, XM_005265389.4:c.810C>T, XM_005265389.3:c.810C>T, XM_005265389.2:c.810C>T, XM_005265389.1:c.810C>T, NM_182902.4:c.711C>T, NM_182902.3:c.711C>T, XM_006713291.4:c.585C>T, XM_006713291.3:c.585C>T, XM_006713291.2:c.585C>T, XM_006713291.1:c.585C>T, NM_001134878.3:c.711C>T, NM_001134878.2:c.711C>T, NM_001134878.1:c.711C>T, XM_011534003.3:c.753C>T, XM_011534003.2:c.753C>T, XM_011534003.1:c.753C>T, XM_017007029.2:c.711C>T, XM_017007029.1:c.711C>T, NM_182903.2:c.711C>T, XM_047448709.1:c.711C>T, NM_001377474.1:c.486C>T, XM_047448711.1:c.432C>T, NM_001377475.1:c.486C>T, XM_047448712.1:c.585C>T, XM_047448710.1:c.810C>T, XM_047448713.1:c.432C>T, NM_182903.1:c.711C>T

                    10.

                    rs1482570582 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:47265828 (GRCh38)
                      3:47307318 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:47265827:G:A
                      Gene:
                      KIF9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_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.47265828G>A, NC_000003.11:g.47307318G>A, NM_022342.6:c.818C>T, NM_022342.5:c.818C>T, NM_022342.4:c.818C>T, XM_005265388.5:c.917C>T, XM_005265388.4:c.917C>T, XM_005265388.3:c.917C>T, XM_005265388.2:c.917C>T, XM_005265388.1:c.917C>T, XM_005265389.5:c.917C>T, XM_005265389.4:c.917C>T, XM_005265389.3:c.917C>T, XM_005265389.2:c.917C>T, XM_005265389.1:c.917C>T, NM_182902.4:c.818C>T, NM_182902.3:c.818C>T, XM_006713291.4:c.692C>T, XM_006713291.3:c.692C>T, XM_006713291.2:c.692C>T, XM_006713291.1:c.692C>T, NM_001134878.3:c.818C>T, NM_001134878.2:c.818C>T, NM_001134878.1:c.818C>T, XM_011534003.3:c.860C>T, XM_011534003.2:c.860C>T, XM_011534003.1:c.860C>T, XM_017007029.2:c.818C>T, XM_017007029.1:c.818C>T, NM_182903.2:c.818C>T, XM_047448709.1:c.818C>T, NM_001377474.1:c.593C>T, XM_047448711.1:c.539C>T, NM_001377475.1:c.593C>T, XM_047448712.1:c.692C>T, XM_047448710.1:c.917C>T, XM_047448713.1:c.539C>T, NM_182903.1:c.818C>T, NP_071737.1:p.Ser273Leu, XP_005265445.1:p.Ser306Leu, XP_005265446.1:p.Ser306Leu, NP_878905.2:p.Ser273Leu, XP_006713354.1:p.Ser231Leu, NP_001128350.1:p.Ser273Leu, XP_011532305.1:p.Ser287Leu, XP_016862518.1:p.Ser273Leu, XP_047304665.1:p.Ser273Leu, NP_001364403.1:p.Ser198Leu, XP_047304667.1:p.Ser180Leu, NP_001364404.1:p.Ser198Leu, XP_047304668.1:p.Ser231Leu, XP_047304666.1:p.Ser306Leu, XP_047304669.1:p.Ser180Leu

                      11.

                      rs1480865590 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:47240880 (GRCh38)
                        3:47282370 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:47240879:C:T
                        Gene:
                        KIF9 (Varview), KIF9-AS1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.47240880C>T, NC_000003.11:g.47282370C>T, NM_022342.6:c.1650G>A, NM_022342.5:c.1650G>A, NM_022342.4:c.1650G>A, XM_005265388.5:c.1944G>A, XM_005265388.4:c.1944G>A, XM_005265388.3:c.1944G>A, XM_005265388.2:c.1944G>A, XM_005265388.1:c.1944G>A, XM_005265389.5:c.1749G>A, XM_005265389.4:c.1749G>A, XM_005265389.3:c.1749G>A, XM_005265389.2:c.1749G>A, XM_005265389.1:c.1749G>A, NM_182902.4:c.1845G>A, NM_182902.3:c.1845G>A, XM_006713291.4:c.1719G>A, XM_006713291.3:c.1719G>A, XM_006713291.2:c.1719G>A, XM_006713291.1:c.1719G>A, NM_001134878.3:c.1845G>A, NM_001134878.2:c.1845G>A, NM_001134878.1:c.1845G>A, XM_011534003.3:c.1887G>A, XM_011534003.2:c.1887G>A, XM_011534003.1:c.1887G>A, XM_011534007.3:c.876G>A, XM_011534007.2:c.876G>A, XM_011534007.1:c.876G>A, XM_017007029.2:c.1845G>A, XM_017007029.1:c.1845G>A, NM_182903.2:c.1845G>A, XM_047448709.1:c.1845G>A, NM_001377474.1:c.1620G>A, XM_047448711.1:c.1566G>A, NM_001377475.1:c.1425G>A, XM_047448712.1:c.1524G>A, XM_047448710.1:c.1944G>A, XM_047448713.1:c.1371G>A, NM_182903.1:c.1845G>A

                        12.

                        rs1477955701 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          3:47240985 (GRCh38)
                          3:47282475 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:47240984:G:A,NC_000003.12:47240984:G:C
                          Gene:
                          KIF9 (Varview), KIF9-AS1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000003.12:g.47240985G>A, NC_000003.12:g.47240985G>C, NC_000003.11:g.47282475G>A, NC_000003.11:g.47282475G>C, NM_022342.6:c.1545C>T, NM_022342.6:c.1545C>G, NM_022342.5:c.1545C>T, NM_022342.5:c.1545C>G, NM_022342.4:c.1545C>T, NM_022342.4:c.1545C>G, XM_005265388.5:c.1839C>T, XM_005265388.5:c.1839C>G, XM_005265388.4:c.1839C>T, XM_005265388.4:c.1839C>G, XM_005265388.3:c.1839C>T, XM_005265388.3:c.1839C>G, XM_005265388.2:c.1839C>T, XM_005265388.2:c.1839C>G, XM_005265388.1:c.1839C>T, XM_005265388.1:c.1839C>G, XM_005265389.5:c.1644C>T, XM_005265389.5:c.1644C>G, XM_005265389.4:c.1644C>T, XM_005265389.4:c.1644C>G, XM_005265389.3:c.1644C>T, XM_005265389.3:c.1644C>G, XM_005265389.2:c.1644C>T, XM_005265389.2:c.1644C>G, XM_005265389.1:c.1644C>T, XM_005265389.1:c.1644C>G, NM_182902.4:c.1740C>T, NM_182902.4:c.1740C>G, NM_182902.3:c.1740C>T, NM_182902.3:c.1740C>G, XM_006713291.4:c.1614C>T, XM_006713291.4:c.1614C>G, XM_006713291.3:c.1614C>T, XM_006713291.3:c.1614C>G, XM_006713291.2:c.1614C>T, XM_006713291.2:c.1614C>G, XM_006713291.1:c.1614C>T, XM_006713291.1:c.1614C>G, NM_001134878.3:c.1740C>T, NM_001134878.3:c.1740C>G, NM_001134878.2:c.1740C>T, NM_001134878.2:c.1740C>G, NM_001134878.1:c.1740C>T, NM_001134878.1:c.1740C>G, XM_011534003.3:c.1782C>T, XM_011534003.3:c.1782C>G, XM_011534003.2:c.1782C>T, XM_011534003.2:c.1782C>G, XM_011534003.1:c.1782C>T, XM_011534003.1:c.1782C>G, XM_011534007.3:c.771C>T, XM_011534007.3:c.771C>G, XM_011534007.2:c.771C>T, XM_011534007.2:c.771C>G, XM_011534007.1:c.771C>T, XM_011534007.1:c.771C>G, XM_017007029.2:c.1740C>T, XM_017007029.2:c.1740C>G, XM_017007029.1:c.1740C>T, XM_017007029.1:c.1740C>G, NM_182903.2:c.1740C>T, NM_182903.2:c.1740C>G, XM_047448709.1:c.1740C>T, XM_047448709.1:c.1740C>G, NM_001377474.1:c.1515C>T, NM_001377474.1:c.1515C>G, XM_047448711.1:c.1461C>T, XM_047448711.1:c.1461C>G, NM_001377475.1:c.1320C>T, NM_001377475.1:c.1320C>G, XM_047448712.1:c.1419C>T, XM_047448712.1:c.1419C>G, XM_047448710.1:c.1839C>T, XM_047448710.1:c.1839C>G, XM_047448713.1:c.1266C>T, XM_047448713.1:c.1266C>G, NM_182903.1:c.1740C>T, NM_182903.1:c.1740C>G

                          13.

                          rs1477925187 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:47277348 (GRCh38)
                            3:47318838 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:47277347:T:C
                            Gene:
                            KIF9 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.47277348T>C, NC_000003.11:g.47318838T>C, NM_022342.6:c.27A>G, NM_022342.5:c.27A>G, NM_022342.4:c.27A>G, XM_005265388.5:c.126A>G, XM_005265388.4:c.126A>G, XM_005265388.3:c.126A>G, XM_005265388.2:c.126A>G, XM_005265388.1:c.126A>G, XM_005265389.5:c.126A>G, XM_005265389.4:c.126A>G, XM_005265389.3:c.126A>G, XM_005265389.2:c.126A>G, XM_005265389.1:c.126A>G, NM_182902.4:c.27A>G, NM_182902.3:c.27A>G, XM_006713291.4:c.126A>G, XM_006713291.3:c.126A>G, XM_006713291.2:c.126A>G, XM_006713291.1:c.126A>G, NM_001134878.3:c.27A>G, NM_001134878.2:c.27A>G, NM_001134878.1:c.27A>G, XM_011534003.3:c.69A>G, XM_011534003.2:c.69A>G, XM_011534003.1:c.69A>G, XM_017007029.2:c.27A>G, XM_017007029.1:c.27A>G, NM_182903.2:c.27A>G, XM_047448709.1:c.27A>G, NM_001377474.1:c.27A>G, XM_047448711.1:c.-146A>G, NM_001377475.1:c.27A>G, XM_047448712.1:c.126A>G, XM_047448710.1:c.126A>G, XM_047448713.1:c.-146A>G, NM_001377477.1:c.27A>G, NM_001377476.1:c.27A>G, NM_182903.1:c.27A>G

                            14.

                            rs1477113057 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:47277287 (GRCh38)
                              3:47318777 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:47277286:T:C
                              Gene:
                              KIF9 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000142/2 (ALFA)
                              C=0.00002/5 (GnomAD_exomes)
                              C=0.00005/7 (GnomAD)
                              C=0.000064/17 (TOPMED)
                              HGVS:
                              NC_000003.12:g.47277287T>C, NC_000003.11:g.47318777T>C, NM_022342.6:c.88A>G, NM_022342.5:c.88A>G, NM_022342.4:c.88A>G, XM_005265388.5:c.187A>G, XM_005265388.4:c.187A>G, XM_005265388.3:c.187A>G, XM_005265388.2:c.187A>G, XM_005265388.1:c.187A>G, XM_005265389.5:c.187A>G, XM_005265389.4:c.187A>G, XM_005265389.3:c.187A>G, XM_005265389.2:c.187A>G, XM_005265389.1:c.187A>G, NM_182902.4:c.88A>G, NM_182902.3:c.88A>G, XM_006713291.4:c.187A>G, XM_006713291.3:c.187A>G, XM_006713291.2:c.187A>G, XM_006713291.1:c.187A>G, NM_001134878.3:c.88A>G, NM_001134878.2:c.88A>G, NM_001134878.1:c.88A>G, XM_011534003.3:c.130A>G, XM_011534003.2:c.130A>G, XM_011534003.1:c.130A>G, XM_017007029.2:c.88A>G, XM_017007029.1:c.88A>G, NM_182903.2:c.88A>G, XM_047448709.1:c.88A>G, NM_001377474.1:c.88A>G, XM_047448711.1:c.-85A>G, NM_001377475.1:c.88A>G, XM_047448712.1:c.187A>G, XM_047448710.1:c.187A>G, XM_047448713.1:c.-85A>G, NM_001377477.1:c.88A>G, NM_001377476.1:c.88A>G, NM_182903.1:c.88A>G, NP_071737.1:p.Lys30Glu, XP_005265445.1:p.Lys63Glu, XP_005265446.1:p.Lys63Glu, NP_878905.2:p.Lys30Glu, XP_006713354.1:p.Lys63Glu, NP_001128350.1:p.Lys30Glu, XP_011532305.1:p.Lys44Glu, XP_016862518.1:p.Lys30Glu, XP_047304665.1:p.Lys30Glu, NP_001364403.1:p.Lys30Glu, NP_001364404.1:p.Lys30Glu, XP_047304668.1:p.Lys63Glu, XP_047304666.1:p.Lys63Glu, NP_001364406.1:p.Lys30Glu, NP_001364405.1:p.Lys30Glu

                              15.

                              rs1476757320 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:47277364 (GRCh38)
                                3:47318854 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:47277363:C:T
                                Gene:
                                KIF9 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000142/2 (ALFA)
                                T=0.000034/9 (TOPMED)
                                T=0.000036/5 (GnomAD)
                                HGVS:
                                NC_000003.12:g.47277364C>T, NC_000003.11:g.47318854C>T, NM_022342.6:c.11G>A, NM_022342.5:c.11G>A, NM_022342.4:c.11G>A, XM_005265388.5:c.110G>A, XM_005265388.4:c.110G>A, XM_005265388.3:c.110G>A, XM_005265388.2:c.110G>A, XM_005265388.1:c.110G>A, XM_005265389.5:c.110G>A, XM_005265389.4:c.110G>A, XM_005265389.3:c.110G>A, XM_005265389.2:c.110G>A, XM_005265389.1:c.110G>A, NM_182902.4:c.11G>A, NM_182902.3:c.11G>A, XM_006713291.4:c.110G>A, XM_006713291.3:c.110G>A, XM_006713291.2:c.110G>A, XM_006713291.1:c.110G>A, NM_001134878.3:c.11G>A, NM_001134878.2:c.11G>A, NM_001134878.1:c.11G>A, XM_011534003.3:c.53G>A, XM_011534003.2:c.53G>A, XM_011534003.1:c.53G>A, XM_017007029.2:c.11G>A, XM_017007029.1:c.11G>A, NM_182903.2:c.11G>A, XM_047448709.1:c.11G>A, NM_001377474.1:c.11G>A, XM_047448711.1:c.-162G>A, NM_001377475.1:c.11G>A, XM_047448712.1:c.110G>A, XM_047448710.1:c.110G>A, XM_047448713.1:c.-162G>A, NM_001377477.1:c.11G>A, NM_001377476.1:c.11G>A, NM_182903.1:c.11G>A, NP_071737.1:p.Arg4Lys, XP_005265445.1:p.Arg37Lys, XP_005265446.1:p.Arg37Lys, NP_878905.2:p.Arg4Lys, XP_006713354.1:p.Arg37Lys, NP_001128350.1:p.Arg4Lys, XP_011532305.1:p.Arg18Lys, XP_016862518.1:p.Arg4Lys, XP_047304665.1:p.Arg4Lys, NP_001364403.1:p.Arg4Lys, NP_001364404.1:p.Arg4Lys, XP_047304668.1:p.Arg37Lys, XP_047304666.1:p.Arg37Lys, NP_001364406.1:p.Arg4Lys, NP_001364405.1:p.Arg4Lys

                                16.

                                rs1475991388 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:47240892 (GRCh38)
                                  3:47282382 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:47240891:G:A
                                  Gene:
                                  KIF9 (Varview), KIF9-AS1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.47240892G>A, NC_000003.11:g.47282382G>A, NM_022342.6:c.1638C>T, NM_022342.5:c.1638C>T, NM_022342.4:c.1638C>T, XM_005265388.5:c.1932C>T, XM_005265388.4:c.1932C>T, XM_005265388.3:c.1932C>T, XM_005265388.2:c.1932C>T, XM_005265388.1:c.1932C>T, XM_005265389.5:c.1737C>T, XM_005265389.4:c.1737C>T, XM_005265389.3:c.1737C>T, XM_005265389.2:c.1737C>T, XM_005265389.1:c.1737C>T, NM_182902.4:c.1833C>T, NM_182902.3:c.1833C>T, XM_006713291.4:c.1707C>T, XM_006713291.3:c.1707C>T, XM_006713291.2:c.1707C>T, XM_006713291.1:c.1707C>T, NM_001134878.3:c.1833C>T, NM_001134878.2:c.1833C>T, NM_001134878.1:c.1833C>T, XM_011534003.3:c.1875C>T, XM_011534003.2:c.1875C>T, XM_011534003.1:c.1875C>T, XM_011534007.3:c.864C>T, XM_011534007.2:c.864C>T, XM_011534007.1:c.864C>T, XM_017007029.2:c.1833C>T, XM_017007029.1:c.1833C>T, NM_182903.2:c.1833C>T, XM_047448709.1:c.1833C>T, NM_001377474.1:c.1608C>T, XM_047448711.1:c.1554C>T, NM_001377475.1:c.1413C>T, XM_047448712.1:c.1512C>T, XM_047448710.1:c.1932C>T, XM_047448713.1:c.1359C>T, NM_182903.1:c.1833C>T

                                  17.

                                  rs1475374323 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:47236483 (GRCh38)
                                    3:47277973 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:47236482:G:A
                                    Gene:
                                    KIF9 (Varview), KIF9-AS1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.47236483G>A, NC_000003.11:g.47277973G>A, NM_022342.6:c.1866C>T, NM_022342.5:c.1866C>T, NM_022342.4:c.1866C>T, XM_005265388.5:c.2160C>T, XM_005265388.4:c.2160C>T, XM_005265388.3:c.2160C>T, XM_005265388.2:c.2160C>T, XM_005265388.1:c.2160C>T, XM_005265389.5:c.1965C>T, XM_005265389.4:c.1965C>T, XM_005265389.3:c.1965C>T, XM_005265389.2:c.1965C>T, XM_005265389.1:c.1965C>T, NM_182902.4:c.2061C>T, NM_182902.3:c.2061C>T, XM_006713291.4:c.1935C>T, XM_006713291.3:c.1935C>T, XM_006713291.2:c.1935C>T, XM_006713291.1:c.1935C>T, NM_001134878.3:c.2061C>T, NM_001134878.2:c.2061C>T, NM_001134878.1:c.2061C>T, XM_011534003.3:c.2103C>T, XM_011534003.2:c.2103C>T, XM_011534003.1:c.2103C>T, XM_011534007.3:c.1092C>T, XM_011534007.2:c.1092C>T, XM_011534007.1:c.1092C>T, XM_017007029.2:c.2061C>T, XM_017007029.1:c.2061C>T, XM_047448709.1:c.2061C>T, NM_001377474.1:c.1836C>T, XM_047448711.1:c.1782C>T, NM_001377475.1:c.1641C>T, XM_047448712.1:c.1740C>T, XM_047448710.1:c.2160C>T, XM_047448713.1:c.1587C>T

                                    18.

                                    rs1474905689 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C,T [Show Flanks]
                                      Chromosome:
                                      3:47243170 (GRCh38)
                                      3:47284660 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:47243169:G:C,NC_000003.12:47243169:G:T
                                      Gene:
                                      KIF9 (Varview), KIF9-AS1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.47243170G>C, NC_000003.12:g.47243170G>T, NC_000003.11:g.47284660G>C, NC_000003.11:g.47284660G>T, XM_005265388.5:c.1689C>G, XM_005265388.5:c.1689C>A, XM_005265388.4:c.1689C>G, XM_005265388.4:c.1689C>A, XM_005265388.3:c.1689C>G, XM_005265388.3:c.1689C>A, XM_005265388.2:c.1689C>G, XM_005265388.2:c.1689C>A, XM_005265388.1:c.1689C>G, XM_005265388.1:c.1689C>A, NM_182902.4:c.1590C>G, NM_182902.4:c.1590C>A, NM_182902.3:c.1590C>G, NM_182902.3:c.1590C>A, XM_006713291.4:c.1464C>G, XM_006713291.4:c.1464C>A, XM_006713291.3:c.1464C>G, XM_006713291.3:c.1464C>A, XM_006713291.2:c.1464C>G, XM_006713291.2:c.1464C>A, XM_006713291.1:c.1464C>G, XM_006713291.1:c.1464C>A, NM_001134878.3:c.1590C>G, NM_001134878.3:c.1590C>A, NM_001134878.2:c.1590C>G, NM_001134878.2:c.1590C>A, NM_001134878.1:c.1590C>G, NM_001134878.1:c.1590C>A, XM_011534003.3:c.1632C>G, XM_011534003.3:c.1632C>A, XM_011534003.2:c.1632C>G, XM_011534003.2:c.1632C>A, XM_011534003.1:c.1632C>G, XM_011534003.1:c.1632C>A, XM_011534007.3:c.621C>G, XM_011534007.3:c.621C>A, XM_011534007.2:c.621C>G, XM_011534007.2:c.621C>A, XM_011534007.1:c.621C>G, XM_011534007.1:c.621C>A, XM_017007029.2:c.1590C>G, XM_017007029.2:c.1590C>A, XM_017007029.1:c.1590C>G, XM_017007029.1:c.1590C>A, NM_182903.2:c.1590C>G, NM_182903.2:c.1590C>A, XM_047448709.1:c.1590C>G, XM_047448709.1:c.1590C>A, NM_001377474.1:c.1365C>G, NM_001377474.1:c.1365C>A, XM_047448711.1:c.1311C>G, XM_047448711.1:c.1311C>A, NR_033373.1:n.1594G>C, NR_033373.1:n.1594G>T, XM_047448710.1:c.1689C>G, XM_047448710.1:c.1689C>A, NM_182903.1:c.1590C>G, NM_182903.1:c.1590C>A

                                      19.

                                      rs1474891491 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:47243244 (GRCh38)
                                        3:47284734 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:47243243:A:G
                                        Gene:
                                        KIF9 (Varview), KIF9-AS1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.47243244A>G, NC_000003.11:g.47284734A>G, XM_005265388.5:c.1615T>C, XM_005265388.4:c.1615T>C, XM_005265388.3:c.1615T>C, XM_005265388.2:c.1615T>C, XM_005265388.1:c.1615T>C, NM_182902.4:c.1516T>C, NM_182902.3:c.1516T>C, XM_006713291.4:c.1390T>C, XM_006713291.3:c.1390T>C, XM_006713291.2:c.1390T>C, XM_006713291.1:c.1390T>C, NM_001134878.3:c.1516T>C, NM_001134878.2:c.1516T>C, NM_001134878.1:c.1516T>C, XM_011534003.3:c.1558T>C, XM_011534003.2:c.1558T>C, XM_011534003.1:c.1558T>C, XM_011534007.3:c.547T>C, XM_011534007.2:c.547T>C, XM_011534007.1:c.547T>C, XM_017007029.2:c.1516T>C, XM_017007029.1:c.1516T>C, NM_182903.2:c.1516T>C, XM_047448709.1:c.1516T>C, NM_001377474.1:c.1291T>C, XM_047448711.1:c.1237T>C, NR_033373.1:n.1668A>G, XM_047448710.1:c.1615T>C, NM_182903.1:c.1516T>C, XP_005265445.1:p.Ser539Pro, NP_878905.2:p.Ser506Pro, XP_006713354.1:p.Ser464Pro, NP_001128350.1:p.Ser506Pro, XP_011532305.1:p.Ser520Pro, XP_011532309.1:p.Ser183Pro, XP_016862518.1:p.Ser506Pro, XP_047304665.1:p.Ser506Pro, NP_001364403.1:p.Ser431Pro, XP_047304667.1:p.Ser413Pro, XP_047304666.1:p.Ser539Pro

                                        20.

                                        rs1473810221 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:47248036 (GRCh38)
                                          3:47289526 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:47248035:C:T
                                          Gene:
                                          KIF9 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.47248036C>T, NC_000003.11:g.47289526C>T, NM_022342.6:c.1110G>A, NM_022342.5:c.1110G>A, NM_022342.4:c.1110G>A, XM_005265388.5:c.1209G>A, XM_005265388.4:c.1209G>A, XM_005265388.3:c.1209G>A, XM_005265388.2:c.1209G>A, XM_005265388.1:c.1209G>A, XM_005265389.5:c.1209G>A, XM_005265389.4:c.1209G>A, XM_005265389.3:c.1209G>A, XM_005265389.2:c.1209G>A, XM_005265389.1:c.1209G>A, NM_182902.4:c.1110G>A, NM_182902.3:c.1110G>A, XM_006713291.4:c.984G>A, XM_006713291.3:c.984G>A, XM_006713291.2:c.984G>A, XM_006713291.1:c.984G>A, NM_001134878.3:c.1110G>A, NM_001134878.2:c.1110G>A, NM_001134878.1:c.1110G>A, XM_011534003.3:c.1152G>A, XM_011534003.2:c.1152G>A, XM_011534003.1:c.1152G>A, XM_011534007.3:c.141G>A, XM_011534007.2:c.141G>A, XM_011534007.1:c.141G>A, XM_017007029.2:c.1110G>A, XM_017007029.1:c.1110G>A, NM_182903.2:c.1110G>A, XM_047448709.1:c.1110G>A, NM_001377474.1:c.885G>A, XM_047448711.1:c.831G>A, NM_001377475.1:c.885G>A, XM_047448712.1:c.984G>A, XM_047448710.1:c.1209G>A, XM_047448713.1:c.831G>A, NM_182903.1:c.1110G>A

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