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Items: 1 to 20 of 766

1.

rs1490141505 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:50097694 (GRCh38)
    10:51857454 (GRCh37)
    Canonical SPDI:
    NC_000010.11:50097693:C:T
    Gene:
    WASHC2A (Varview)
    Functional Consequence:
    upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.00003/1 (GnomAD_exomes)
    T=0.000045/6 (GnomAD)
    HGVS:
    NC_000010.11:g.50097694C>T, NC_000010.10:g.51857454C>T, NW_004504302.1:g.276869C>T, XM_005269806.4:c.1368C>T, XM_005269806.3:c.1368C>T, XM_005269806.2:c.1368C>T, XM_005269806.1:c.1524C>T, XM_005269807.4:c.1440C>T, XM_005269807.3:c.1440C>T, XM_005269807.2:c.1440C>T, XM_005269807.1:c.1596C>T, XM_006717831.4:c.1440C>T, XM_006717831.3:c.1440C>T, XM_006717831.2:c.1440C>T, XM_006717831.1:c.1596C>T, XM_006717832.4:c.1368C>T, XM_006717832.3:c.1368C>T, XM_006717832.2:c.1368C>T, XM_006717832.1:c.1524C>T, NM_001005751.3:c.1440C>T, NM_001005751.2:c.1440C>T, NM_001005751.1:c.1440C>T, XM_011539786.3:c.1440C>T, XM_011539786.2:c.1440C>T, XM_011539786.1:c.1440C>T, NM_001291398.2:c.1440C>T, NM_001291398.1:c.1440C>T, XM_017016227.2:c.1440C>T, XM_017016227.1:c.1440C>T, XM_017016228.2:c.1368C>T, XM_017016228.1:c.1368C>T, XM_017016229.2:c.1440C>T, XM_017016229.1:c.1440C>T, NM_001330102.2:c.1440C>T, NM_001330102.1:c.1440C>T, XM_017016231.2:c.1440C>T, XM_017016231.1:c.1440C>T, XM_017016232.2:c.1368C>T, XM_017016232.1:c.1368C>T, XM_017016233.2:c.861C>T, XM_017016233.1:c.861C>T, XM_047425206.1:c.1368C>T, XM_047425207.1:c.1440C>T, XM_047425208.1:c.1368C>T, XM_047425209.1:c.1440C>T, XM_047425210.1:c.1368C>T, XM_047425211.1:c.1440C>T, XM_047425212.1:c.1440C>T, XM_047425213.1:c.1440C>T, NM_018232.1:c.1176C>T, XM_047425214.1:c.1440C>T, XM_047425215.1:c.1368C>T, XM_047425216.1:c.1440C>T, XM_047425217.1:c.1440C>T, XM_047425218.1:c.861C>T, XM_047425219.1:c.1440C>T, XM_047425220.1:c.1440C>T

    2.

    rs1489851666 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      10:50090788 (GRCh38)
      10:51850548 (GRCh37)
      Canonical SPDI:
      NC_000010.11:50090787:A:G
      Gene:
      WASHC2A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_upstream_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_000010.11:g.50090788A>G, NC_000010.10:g.51850548A>G, NW_004504302.1:g.269963A>G, XM_005269806.4:c.745A>G, XM_005269806.3:c.745A>G, XM_005269806.2:c.745A>G, XM_005269806.1:c.901A>G, XM_005269807.4:c.745A>G, XM_005269807.3:c.745A>G, XM_005269807.2:c.745A>G, XM_005269807.1:c.901A>G, XM_006717831.4:c.745A>G, XM_006717831.3:c.745A>G, XM_006717831.2:c.745A>G, XM_006717831.1:c.901A>G, XM_006717832.4:c.745A>G, XM_006717832.3:c.745A>G, XM_006717832.2:c.745A>G, XM_006717832.1:c.901A>G, NM_001005751.3:c.745A>G, NM_001005751.2:c.745A>G, NM_001005751.1:c.745A>G, XM_011539786.3:c.745A>G, XM_011539786.2:c.745A>G, XM_011539786.1:c.745A>G, NM_001291398.2:c.745A>G, NM_001291398.1:c.745A>G, XM_017016227.2:c.745A>G, XM_017016227.1:c.745A>G, XM_017016228.2:c.745A>G, XM_017016228.1:c.745A>G, XM_017016229.2:c.745A>G, XM_017016229.1:c.745A>G, NM_001330102.2:c.745A>G, NM_001330102.1:c.745A>G, XM_017016231.2:c.745A>G, XM_017016231.1:c.745A>G, XM_017016232.2:c.745A>G, XM_017016232.1:c.745A>G, XM_017016233.2:c.166A>G, XM_017016233.1:c.166A>G, XM_047425206.1:c.745A>G, XM_047425207.1:c.745A>G, XM_047425208.1:c.745A>G, XM_047425209.1:c.745A>G, XM_047425210.1:c.745A>G, XM_047425211.1:c.745A>G, XM_047425212.1:c.745A>G, XM_047425213.1:c.745A>G, NM_018232.1:c.481A>G, XM_047425214.1:c.745A>G, XM_047425215.1:c.745A>G, XM_047425216.1:c.745A>G, XM_047425217.1:c.745A>G, XM_047425218.1:c.166A>G, XM_047425219.1:c.745A>G, XM_047425220.1:c.745A>G, XP_005269863.2:p.Met249Val, XP_005269864.2:p.Met249Val, XP_006717894.2:p.Met249Val, XP_006717895.2:p.Met249Val, NP_001005751.1:p.Met249Val, XP_011538088.1:p.Met249Val, NP_001278327.1:p.Met249Val, XP_016871716.1:p.Met249Val, XP_016871717.1:p.Met249Val, XP_016871718.1:p.Met249Val, NP_001317031.1:p.Met249Val, XP_016871720.1:p.Met249Val, XP_016871721.1:p.Met249Val, XP_016871722.1:p.Met56Val, XP_047281162.1:p.Met249Val, XP_047281163.1:p.Met249Val, XP_047281164.1:p.Met249Val, XP_047281165.1:p.Met249Val, XP_047281166.1:p.Met249Val, XP_047281167.1:p.Met249Val, XP_047281168.1:p.Met249Val, XP_047281169.1:p.Met249Val, XP_047281170.1:p.Met249Val, XP_047281171.1:p.Met249Val, XP_047281172.1:p.Met249Val, XP_047281173.1:p.Met249Val, XP_047281174.1:p.Met56Val, XP_047281175.1:p.Met249Val, XP_047281176.1:p.Met249Val

      3.

      rs1488431935 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:50093917 (GRCh38)
        10:51853677 (GRCh37)
        Canonical SPDI:
        NC_000010.11:50093916:G:A
        Gene:
        WASHC2A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.50093917G>A, NC_000010.10:g.51853677G>A, NW_004504302.1:g.273092G>A, XM_005269806.4:c.1108G>A, XM_005269806.3:c.1108G>A, XM_005269806.2:c.1108G>A, XM_005269806.1:c.1264G>A, XM_005269807.4:c.1180G>A, XM_005269807.3:c.1180G>A, XM_005269807.2:c.1180G>A, XM_005269807.1:c.1336G>A, XM_006717831.4:c.1180G>A, XM_006717831.3:c.1180G>A, XM_006717831.2:c.1180G>A, XM_006717831.1:c.1336G>A, XM_006717832.4:c.1108G>A, XM_006717832.3:c.1108G>A, XM_006717832.2:c.1108G>A, XM_006717832.1:c.1264G>A, NM_001005751.3:c.1180G>A, NM_001005751.2:c.1180G>A, NM_001005751.1:c.1180G>A, XM_011539786.3:c.1180G>A, XM_011539786.2:c.1180G>A, XM_011539786.1:c.1180G>A, NM_001291398.2:c.1180G>A, NM_001291398.1:c.1180G>A, XM_017016227.2:c.1180G>A, XM_017016227.1:c.1180G>A, XM_017016228.2:c.1108G>A, XM_017016228.1:c.1108G>A, XM_017016229.2:c.1180G>A, XM_017016229.1:c.1180G>A, NM_001330102.2:c.1180G>A, NM_001330102.1:c.1180G>A, XM_017016231.2:c.1180G>A, XM_017016231.1:c.1180G>A, XM_017016232.2:c.1108G>A, XM_017016232.1:c.1108G>A, XM_017016233.2:c.601G>A, XM_017016233.1:c.601G>A, XM_047425206.1:c.1108G>A, XM_047425207.1:c.1180G>A, XM_047425208.1:c.1108G>A, XM_047425209.1:c.1180G>A, XM_047425210.1:c.1108G>A, XM_047425211.1:c.1180G>A, XM_047425212.1:c.1180G>A, XM_047425213.1:c.1180G>A, NM_018232.1:c.916G>A, XM_047425214.1:c.1180G>A, XM_047425215.1:c.1108G>A, XM_047425216.1:c.1180G>A, XM_047425217.1:c.1180G>A, XM_047425218.1:c.601G>A, XM_047425219.1:c.1180G>A, XM_047425220.1:c.1180G>A, XP_005269863.2:p.Glu370Lys, XP_005269864.2:p.Glu394Lys, XP_006717894.2:p.Glu394Lys, XP_006717895.2:p.Glu370Lys, NP_001005751.1:p.Glu394Lys, XP_011538088.1:p.Glu394Lys, NP_001278327.1:p.Glu394Lys, XP_016871716.1:p.Glu394Lys, XP_016871717.1:p.Glu370Lys, XP_016871718.1:p.Glu394Lys, NP_001317031.1:p.Glu394Lys, XP_016871720.1:p.Glu394Lys, XP_016871721.1:p.Glu370Lys, XP_016871722.1:p.Glu201Lys, XP_047281162.1:p.Glu370Lys, XP_047281163.1:p.Glu394Lys, XP_047281164.1:p.Glu370Lys, XP_047281165.1:p.Glu394Lys, XP_047281166.1:p.Glu370Lys, XP_047281167.1:p.Glu394Lys, XP_047281168.1:p.Glu394Lys, XP_047281169.1:p.Glu394Lys, XP_047281170.1:p.Glu394Lys, XP_047281171.1:p.Glu370Lys, XP_047281172.1:p.Glu394Lys, XP_047281173.1:p.Glu394Lys, XP_047281174.1:p.Glu201Lys, XP_047281175.1:p.Glu394Lys, XP_047281176.1:p.Glu394Lys

        4.

        rs1487596302 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:50078676 (GRCh38)
          10:51838436 (GRCh37)
          Canonical SPDI:
          NC_000010.11:50078675:G:A
          Gene:
          WASHC2A (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000071/1 (ALFA)
          A=0.000014/2 (GnomAD)
          A=0.000015/4 (TOPMED)
          HGVS:
          NC_000010.11:g.50078676G>A, NC_000010.10:g.51838436G>A, NW_004504302.1:g.257851G>A, XM_005269806.4:c.293G>A, XM_005269806.3:c.293G>A, XM_005269806.2:c.293G>A, XM_005269806.1:c.449G>A, XM_005269807.4:c.293G>A, XM_005269807.3:c.293G>A, XM_005269807.2:c.293G>A, XM_005269807.1:c.449G>A, XM_006717831.4:c.293G>A, XM_006717831.3:c.293G>A, XM_006717831.2:c.293G>A, XM_006717831.1:c.449G>A, XM_006717832.4:c.293G>A, XM_006717832.3:c.293G>A, XM_006717832.2:c.293G>A, XM_006717832.1:c.449G>A, NM_001005751.3:c.293G>A, NM_001005751.2:c.293G>A, NM_001005751.1:c.293G>A, XM_011539786.3:c.293G>A, XM_011539786.2:c.293G>A, XM_011539786.1:c.293G>A, NM_001291398.2:c.293G>A, NM_001291398.1:c.293G>A, XM_017016227.2:c.293G>A, XM_017016227.1:c.293G>A, XM_017016228.2:c.293G>A, XM_017016228.1:c.293G>A, XM_017016229.2:c.293G>A, XM_017016229.1:c.293G>A, NM_001330102.2:c.293G>A, NM_001330102.1:c.293G>A, XM_017016231.2:c.293G>A, XM_017016231.1:c.293G>A, XM_017016232.2:c.293G>A, XM_017016232.1:c.293G>A, XM_047425206.1:c.293G>A, XM_047425207.1:c.293G>A, XM_047425208.1:c.293G>A, XM_047425209.1:c.293G>A, XM_047425210.1:c.293G>A, XM_047425211.1:c.293G>A, XM_047425212.1:c.293G>A, XM_047425213.1:c.293G>A, NM_018232.1:c.29G>A, XM_047425214.1:c.293G>A, XM_047425215.1:c.293G>A, XM_047425216.1:c.293G>A, XM_047425217.1:c.293G>A, XM_047425219.1:c.293G>A, XM_047425220.1:c.293G>A, XP_005269863.2:p.Arg98His, XP_005269864.2:p.Arg98His, XP_006717894.2:p.Arg98His, XP_006717895.2:p.Arg98His, NP_001005751.1:p.Arg98His, XP_011538088.1:p.Arg98His, NP_001278327.1:p.Arg98His, XP_016871716.1:p.Arg98His, XP_016871717.1:p.Arg98His, XP_016871718.1:p.Arg98His, NP_001317031.1:p.Arg98His, XP_016871720.1:p.Arg98His, XP_016871721.1:p.Arg98His, XP_047281162.1:p.Arg98His, XP_047281163.1:p.Arg98His, XP_047281164.1:p.Arg98His, XP_047281165.1:p.Arg98His, XP_047281166.1:p.Arg98His, XP_047281167.1:p.Arg98His, XP_047281168.1:p.Arg98His, XP_047281169.1:p.Arg98His, XP_047281170.1:p.Arg98His, XP_047281171.1:p.Arg98His, XP_047281172.1:p.Arg98His, XP_047281173.1:p.Arg98His, XP_047281175.1:p.Arg98His, XP_047281176.1:p.Arg98His

          5.

          rs1486865274 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            10:50129991 (GRCh38)
            10:51889751 (GRCh37)
            Canonical SPDI:
            NC_000010.11:50129990:A:G
            Gene:
            WASHC2A (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
            HGVS:
            NC_000010.11:g.50129991A>G, NC_000010.10:g.51889751A>G, XM_005269806.4:c.3588A>G, XM_005269806.3:c.3588A>G, XM_005269806.2:c.3588A>G, XM_005269806.1:c.3744A>G, XM_005269807.4:c.3573A>G, XM_005269807.3:c.3573A>G, XM_005269807.2:c.3573A>G, XM_005269807.1:c.3729A>G, XM_006717831.4:c.3507A>G, XM_006717831.3:c.3507A>G, XM_006717831.2:c.3507A>G, XM_006717831.1:c.3663A>G, XM_006717832.4:c.3372A>G, XM_006717832.3:c.3372A>G, XM_006717832.2:c.3372A>G, XM_006717832.1:c.3528A>G, XM_005269810.4:c.1764A>G, XM_005269810.3:c.1764A>G, XM_005269810.2:c.1764A>G, XM_005269810.1:c.1863A>G, NM_001005751.3:c.3660A>G, NM_001005751.2:c.3660A>G, NM_001005751.1:c.3660A>G, XM_011539786.3:c.3261A>G, XM_011539786.2:c.3261A>G, XM_011539786.1:c.3261A>G, NM_001291398.2:c.3597A>G, NM_001291398.1:c.3597A>G, XM_017016227.2:c.3537A>G, XM_017016227.1:c.3537A>G, XM_017016228.2:c.3525A>G, XM_017016228.1:c.3525A>G, XM_017016229.2:c.3510A>G, XM_017016229.1:c.3510A>G, NM_001330102.2:c.3474A>G, NM_001330102.1:c.3474A>G, XM_017016231.2:c.3444A>G, XM_017016231.1:c.3444A>G, XM_017016232.2:c.3438A>G, XM_017016232.1:c.3438A>G, XM_017016233.2:c.3081A>G, XM_017016233.1:c.3081A>G, XM_024447991.2:c.1770A>G, XM_024447991.1:c.1770A>G, XM_047425206.1:c.3501A>G, XM_047425207.1:c.3450A>G, XM_047425208.1:c.3435A>G, XM_047425209.1:c.3420A>G, XM_047425210.1:c.3402A>G, XM_047425211.1:c.3387A>G, XM_047425212.1:c.3384A>G, XM_047425213.1:c.3357A>G, NM_018232.1:c.3396A>G, XM_047425214.1:c.3321A>G, XM_047425215.1:c.3285A>G, XM_047425216.1:c.3174A>G, XM_047425217.1:c.3108A>G, XM_047425218.1:c.2994A>G

            6.

            rs1486567174 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              10:50095706 (GRCh38)
              10:51855466 (GRCh37)
              Canonical SPDI:
              NC_000010.11:50095705:C:G,NC_000010.11:50095705:C:T
              Gene:
              WASHC2A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              HGVS:
              NC_000010.11:g.50095706C>G, NC_000010.11:g.50095706C>T, NC_000010.10:g.51855466C>G, NC_000010.10:g.51855466C>T, NW_004504302.1:g.274881C>G, NW_004504302.1:g.274881C>T, XM_005269806.4:c.1276C>G, XM_005269806.4:c.1276C>T, XM_005269806.3:c.1276C>G, XM_005269806.3:c.1276C>T, XM_005269806.2:c.1276C>G, XM_005269806.2:c.1276C>T, XM_005269806.1:c.1432C>G, XM_005269806.1:c.1432C>T, XM_005269807.4:c.1348C>G, XM_005269807.4:c.1348C>T, XM_005269807.3:c.1348C>G, XM_005269807.3:c.1348C>T, XM_005269807.2:c.1348C>G, XM_005269807.2:c.1348C>T, XM_005269807.1:c.1504C>G, XM_005269807.1:c.1504C>T, XM_006717831.4:c.1348C>G, XM_006717831.4:c.1348C>T, XM_006717831.3:c.1348C>G, XM_006717831.3:c.1348C>T, XM_006717831.2:c.1348C>G, XM_006717831.2:c.1348C>T, XM_006717831.1:c.1504C>G, XM_006717831.1:c.1504C>T, XM_006717832.4:c.1276C>G, XM_006717832.4:c.1276C>T, XM_006717832.3:c.1276C>G, XM_006717832.3:c.1276C>T, XM_006717832.2:c.1276C>G, XM_006717832.2:c.1276C>T, XM_006717832.1:c.1432C>G, XM_006717832.1:c.1432C>T, NM_001005751.3:c.1348C>G, NM_001005751.3:c.1348C>T, NM_001005751.2:c.1348C>G, NM_001005751.2:c.1348C>T, NM_001005751.1:c.1348C>G, NM_001005751.1:c.1348C>T, XM_011539786.3:c.1348C>G, XM_011539786.3:c.1348C>T, XM_011539786.2:c.1348C>G, XM_011539786.2:c.1348C>T, XM_011539786.1:c.1348C>G, XM_011539786.1:c.1348C>T, NM_001291398.2:c.1348C>G, NM_001291398.2:c.1348C>T, NM_001291398.1:c.1348C>G, NM_001291398.1:c.1348C>T, XM_017016227.2:c.1348C>G, XM_017016227.2:c.1348C>T, XM_017016227.1:c.1348C>G, XM_017016227.1:c.1348C>T, XM_017016228.2:c.1276C>G, XM_017016228.2:c.1276C>T, XM_017016228.1:c.1276C>G, XM_017016228.1:c.1276C>T, XM_017016229.2:c.1348C>G, XM_017016229.2:c.1348C>T, XM_017016229.1:c.1348C>G, XM_017016229.1:c.1348C>T, NM_001330102.2:c.1348C>G, NM_001330102.2:c.1348C>T, NM_001330102.1:c.1348C>G, NM_001330102.1:c.1348C>T, XM_017016231.2:c.1348C>G, XM_017016231.2:c.1348C>T, XM_017016231.1:c.1348C>G, XM_017016231.1:c.1348C>T, XM_017016232.2:c.1276C>G, XM_017016232.2:c.1276C>T, XM_017016232.1:c.1276C>G, XM_017016232.1:c.1276C>T, XM_017016233.2:c.769C>G, XM_017016233.2:c.769C>T, XM_017016233.1:c.769C>G, XM_017016233.1:c.769C>T, XM_047425206.1:c.1276C>G, XM_047425206.1:c.1276C>T, XM_047425207.1:c.1348C>G, XM_047425207.1:c.1348C>T, XM_047425208.1:c.1276C>G, XM_047425208.1:c.1276C>T, XM_047425209.1:c.1348C>G, XM_047425209.1:c.1348C>T, XM_047425210.1:c.1276C>G, XM_047425210.1:c.1276C>T, XM_047425211.1:c.1348C>G, XM_047425211.1:c.1348C>T, XM_047425212.1:c.1348C>G, XM_047425212.1:c.1348C>T, XM_047425213.1:c.1348C>G, XM_047425213.1:c.1348C>T, NM_018232.1:c.1084C>G, NM_018232.1:c.1084C>T, XM_047425214.1:c.1348C>G, XM_047425214.1:c.1348C>T, XM_047425215.1:c.1276C>G, XM_047425215.1:c.1276C>T, XM_047425216.1:c.1348C>G, XM_047425216.1:c.1348C>T, XM_047425217.1:c.1348C>G, XM_047425217.1:c.1348C>T, XM_047425218.1:c.769C>G, XM_047425218.1:c.769C>T, XM_047425219.1:c.1348C>G, XM_047425219.1:c.1348C>T, XM_047425220.1:c.1348C>G, XM_047425220.1:c.1348C>T, XP_005269863.2:p.Leu426Val, XP_005269863.2:p.Leu426Phe, XP_005269864.2:p.Leu450Val, XP_005269864.2:p.Leu450Phe, XP_006717894.2:p.Leu450Val, XP_006717894.2:p.Leu450Phe, XP_006717895.2:p.Leu426Val, XP_006717895.2:p.Leu426Phe, NP_001005751.1:p.Leu450Val, NP_001005751.1:p.Leu450Phe, XP_011538088.1:p.Leu450Val, XP_011538088.1:p.Leu450Phe, NP_001278327.1:p.Leu450Val, NP_001278327.1:p.Leu450Phe, XP_016871716.1:p.Leu450Val, XP_016871716.1:p.Leu450Phe, XP_016871717.1:p.Leu426Val, XP_016871717.1:p.Leu426Phe, XP_016871718.1:p.Leu450Val, XP_016871718.1:p.Leu450Phe, NP_001317031.1:p.Leu450Val, NP_001317031.1:p.Leu450Phe, XP_016871720.1:p.Leu450Val, XP_016871720.1:p.Leu450Phe, XP_016871721.1:p.Leu426Val, XP_016871721.1:p.Leu426Phe, XP_016871722.1:p.Leu257Val, XP_016871722.1:p.Leu257Phe, XP_047281162.1:p.Leu426Val, XP_047281162.1:p.Leu426Phe, XP_047281163.1:p.Leu450Val, XP_047281163.1:p.Leu450Phe, XP_047281164.1:p.Leu426Val, XP_047281164.1:p.Leu426Phe, XP_047281165.1:p.Leu450Val, XP_047281165.1:p.Leu450Phe, XP_047281166.1:p.Leu426Val, XP_047281166.1:p.Leu426Phe, XP_047281167.1:p.Leu450Val, XP_047281167.1:p.Leu450Phe, XP_047281168.1:p.Leu450Val, XP_047281168.1:p.Leu450Phe, XP_047281169.1:p.Leu450Val, XP_047281169.1:p.Leu450Phe, XP_047281170.1:p.Leu450Val, XP_047281170.1:p.Leu450Phe, XP_047281171.1:p.Leu426Val, XP_047281171.1:p.Leu426Phe, XP_047281172.1:p.Leu450Val, XP_047281172.1:p.Leu450Phe, XP_047281173.1:p.Leu450Val, XP_047281173.1:p.Leu450Phe, XP_047281174.1:p.Leu257Val, XP_047281174.1:p.Leu257Phe, XP_047281175.1:p.Leu450Val, XP_047281175.1:p.Leu450Phe, XP_047281176.1:p.Leu450Val, XP_047281176.1:p.Leu450Phe

              7.

              rs1485458334 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                10:50125428 (GRCh38)
                10:51885188 (GRCh37)
                Canonical SPDI:
                NC_000010.11:50125427:C:T
                Gene:
                WASHC2A (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000019/5 (TOPMED)
                HGVS:
                NC_000010.11:g.50125428C>T, NC_000010.10:g.51885188C>T, NW_004504302.1:g.304603C>T, XM_005269806.4:c.2595C>T, XM_005269806.3:c.2595C>T, XM_005269806.2:c.2595C>T, XM_005269806.1:c.2751C>T, XM_005269807.4:c.2580C>T, XM_005269807.3:c.2580C>T, XM_005269807.2:c.2580C>T, XM_005269807.1:c.2736C>T, XM_006717831.4:c.2514C>T, XM_006717831.3:c.2514C>T, XM_006717831.2:c.2514C>T, XM_006717831.1:c.2670C>T, XM_006717832.4:c.2442C>T, XM_006717832.3:c.2442C>T, XM_006717832.2:c.2442C>T, XM_006717832.1:c.2598C>T, XM_005269810.4:c.771C>T, XM_005269810.3:c.771C>T, XM_005269810.2:c.771C>T, XM_005269810.1:c.870C>T, NM_001005751.3:c.2667C>T, NM_001005751.2:c.2667C>T, NM_001005751.1:c.2667C>T, XM_011539786.3:c.2667C>T, XM_011539786.2:c.2667C>T, XM_011539786.1:c.2667C>T, NM_001291398.2:c.2667C>T, NM_001291398.1:c.2667C>T, XM_017016227.2:c.2667C>T, XM_017016227.1:c.2667C>T, XM_017016228.2:c.2595C>T, XM_017016228.1:c.2595C>T, XM_017016229.2:c.2580C>T, XM_017016229.1:c.2580C>T, NM_001330102.2:c.2667C>T, NM_001330102.1:c.2667C>T, XM_017016231.2:c.2514C>T, XM_017016231.1:c.2514C>T, XM_017016232.2:c.2508C>T, XM_017016232.1:c.2508C>T, XM_017016233.2:c.2088C>T, XM_017016233.1:c.2088C>T, XM_024447991.2:c.777C>T, XM_024447991.1:c.777C>T, XM_047425206.1:c.2508C>T, XM_047425207.1:c.2580C>T, XM_047425208.1:c.2442C>T, XM_047425209.1:c.2427C>T, XM_047425210.1:c.2595C>T, XM_047425211.1:c.2580C>T, XM_047425212.1:c.2514C>T, XM_047425213.1:c.2427C>T, NM_018232.1:c.2403C>T, XM_047425214.1:c.2514C>T, XM_047425215.1:c.2355C>T, XM_047425216.1:c.2580C>T, XM_047425217.1:c.2514C>T, XM_047425218.1:c.2001C>T

                8.

                rs1485235652 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:50084100 (GRCh38)
                  10:51843860 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:50084099:A:G
                  Gene:
                  WASHC2A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000023/6 (TOPMED)
                  HGVS:
                  NC_000010.11:g.50084100A>G, NC_000010.10:g.51843860A>G, NW_004504302.1:g.263275A>G, XM_005269806.4:c.557A>G, XM_005269806.3:c.557A>G, XM_005269806.2:c.557A>G, XM_005269806.1:c.713A>G, XM_005269807.4:c.557A>G, XM_005269807.3:c.557A>G, XM_005269807.2:c.557A>G, XM_005269807.1:c.713A>G, XM_006717831.4:c.557A>G, XM_006717831.3:c.557A>G, XM_006717831.2:c.557A>G, XM_006717831.1:c.713A>G, XM_006717832.4:c.557A>G, XM_006717832.3:c.557A>G, XM_006717832.2:c.557A>G, XM_006717832.1:c.713A>G, NM_001005751.3:c.557A>G, NM_001005751.2:c.557A>G, NM_001005751.1:c.557A>G, XM_011539786.3:c.557A>G, XM_011539786.2:c.557A>G, XM_011539786.1:c.557A>G, NM_001291398.2:c.557A>G, NM_001291398.1:c.557A>G, XM_017016227.2:c.557A>G, XM_017016227.1:c.557A>G, XM_017016228.2:c.557A>G, XM_017016228.1:c.557A>G, XM_017016229.2:c.557A>G, XM_017016229.1:c.557A>G, NM_001330102.2:c.557A>G, NM_001330102.1:c.557A>G, XM_017016231.2:c.557A>G, XM_017016231.1:c.557A>G, XM_017016232.2:c.557A>G, XM_017016232.1:c.557A>G, XM_017016233.2:c.-23A>G, XM_017016233.1:c.-23A>G, XM_047425206.1:c.557A>G, XM_047425207.1:c.557A>G, XM_047425208.1:c.557A>G, XM_047425209.1:c.557A>G, XM_047425210.1:c.557A>G, XM_047425211.1:c.557A>G, XM_047425212.1:c.557A>G, XM_047425213.1:c.557A>G, NM_018232.1:c.293A>G, XM_047425214.1:c.557A>G, XM_047425215.1:c.557A>G, XM_047425216.1:c.557A>G, XM_047425217.1:c.557A>G, XM_047425218.1:c.-23A>G, XM_047425219.1:c.557A>G, XM_047425220.1:c.557A>G, XP_005269863.2:p.Tyr186Cys, XP_005269864.2:p.Tyr186Cys, XP_006717894.2:p.Tyr186Cys, XP_006717895.2:p.Tyr186Cys, NP_001005751.1:p.Tyr186Cys, XP_011538088.1:p.Tyr186Cys, NP_001278327.1:p.Tyr186Cys, XP_016871716.1:p.Tyr186Cys, XP_016871717.1:p.Tyr186Cys, XP_016871718.1:p.Tyr186Cys, NP_001317031.1:p.Tyr186Cys, XP_016871720.1:p.Tyr186Cys, XP_016871721.1:p.Tyr186Cys, XP_047281162.1:p.Tyr186Cys, XP_047281163.1:p.Tyr186Cys, XP_047281164.1:p.Tyr186Cys, XP_047281165.1:p.Tyr186Cys, XP_047281166.1:p.Tyr186Cys, XP_047281167.1:p.Tyr186Cys, XP_047281168.1:p.Tyr186Cys, XP_047281169.1:p.Tyr186Cys, XP_047281170.1:p.Tyr186Cys, XP_047281171.1:p.Tyr186Cys, XP_047281172.1:p.Tyr186Cys, XP_047281173.1:p.Tyr186Cys, XP_047281175.1:p.Tyr186Cys, XP_047281176.1:p.Tyr186Cys

                  9.

                  rs1485180135 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    10:50130901 (GRCh38)
                    10:51890661 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:50130900:G:A,NC_000010.11:50130900:G:T
                    Gene:
                    WASHC2A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    T=0.000156/1 (1000Genomes)
                    HGVS:
                    NC_000010.11:g.50130901G>A, NC_000010.11:g.50130901G>T, NC_000010.10:g.51890661G>A, NC_000010.10:g.51890661G>T, XM_005269806.4:c.3637G>A, XM_005269806.4:c.3637G>T, XM_005269806.3:c.3637G>A, XM_005269806.3:c.3637G>T, XM_005269806.2:c.3637G>A, XM_005269806.2:c.3637G>T, XM_005269806.1:c.3793G>A, XM_005269806.1:c.3793G>T, XM_005269807.4:c.3622G>A, XM_005269807.4:c.3622G>T, XM_005269807.3:c.3622G>A, XM_005269807.3:c.3622G>T, XM_005269807.2:c.3622G>A, XM_005269807.2:c.3622G>T, XM_005269807.1:c.3778G>A, XM_005269807.1:c.3778G>T, XM_006717831.4:c.3556G>A, XM_006717831.4:c.3556G>T, XM_006717831.3:c.3556G>A, XM_006717831.3:c.3556G>T, XM_006717831.2:c.3556G>A, XM_006717831.2:c.3556G>T, XM_006717831.1:c.3712G>A, XM_006717831.1:c.3712G>T, XM_006717832.4:c.3421G>A, XM_006717832.4:c.3421G>T, XM_006717832.3:c.3421G>A, XM_006717832.3:c.3421G>T, XM_006717832.2:c.3421G>A, XM_006717832.2:c.3421G>T, XM_006717832.1:c.3577G>A, XM_006717832.1:c.3577G>T, XM_005269810.4:c.1813G>A, XM_005269810.4:c.1813G>T, XM_005269810.3:c.1813G>A, XM_005269810.3:c.1813G>T, XM_005269810.2:c.1813G>A, XM_005269810.2:c.1813G>T, XM_005269810.1:c.1912G>A, XM_005269810.1:c.1912G>T, NM_001005751.3:c.3709G>A, NM_001005751.3:c.3709G>T, NM_001005751.2:c.3709G>A, NM_001005751.2:c.3709G>T, NM_001005751.1:c.3709G>A, NM_001005751.1:c.3709G>T, XM_011539786.3:c.3310G>A, XM_011539786.3:c.3310G>T, XM_011539786.2:c.3310G>A, XM_011539786.2:c.3310G>T, XM_011539786.1:c.3310G>A, XM_011539786.1:c.3310G>T, NM_001291398.2:c.3646G>A, NM_001291398.2:c.3646G>T, NM_001291398.1:c.3646G>A, NM_001291398.1:c.3646G>T, XM_017016227.2:c.3586G>A, XM_017016227.2:c.3586G>T, XM_017016227.1:c.3586G>A, XM_017016227.1:c.3586G>T, XM_017016228.2:c.3574G>A, XM_017016228.2:c.3574G>T, XM_017016228.1:c.3574G>A, XM_017016228.1:c.3574G>T, XM_017016229.2:c.3559G>A, XM_017016229.2:c.3559G>T, XM_017016229.1:c.3559G>A, XM_017016229.1:c.3559G>T, NM_001330102.2:c.3523G>A, NM_001330102.2:c.3523G>T, NM_001330102.1:c.3523G>A, NM_001330102.1:c.3523G>T, XM_017016231.2:c.3493G>A, XM_017016231.2:c.3493G>T, XM_017016231.1:c.3493G>A, XM_017016231.1:c.3493G>T, XM_017016232.2:c.3487G>A, XM_017016232.2:c.3487G>T, XM_017016232.1:c.3487G>A, XM_017016232.1:c.3487G>T, XM_017016233.2:c.3130G>A, XM_017016233.2:c.3130G>T, XM_017016233.1:c.3130G>A, XM_017016233.1:c.3130G>T, XM_024447991.2:c.1819G>A, XM_024447991.2:c.1819G>T, XM_024447991.1:c.1819G>A, XM_024447991.1:c.1819G>T, XM_047425206.1:c.3550G>A, XM_047425206.1:c.3550G>T, XM_047425207.1:c.3499G>A, XM_047425207.1:c.3499G>T, XM_047425208.1:c.3484G>A, XM_047425208.1:c.3484G>T, XM_047425209.1:c.3469G>A, XM_047425209.1:c.3469G>T, XM_047425210.1:c.3451G>A, XM_047425210.1:c.3451G>T, XM_047425211.1:c.3436G>A, XM_047425211.1:c.3436G>T, XM_047425212.1:c.3433G>A, XM_047425212.1:c.3433G>T, XM_047425213.1:c.3406G>A, XM_047425213.1:c.3406G>T, NM_018232.1:c.3445G>A, NM_018232.1:c.3445G>T, XM_047425214.1:c.3370G>A, XM_047425214.1:c.3370G>T, XM_047425215.1:c.3334G>A, XM_047425215.1:c.3334G>T, XM_047425216.1:c.3223G>A, XM_047425216.1:c.3223G>T, XM_047425217.1:c.3157G>A, XM_047425217.1:c.3157G>T, XM_047425218.1:c.3043G>A, XM_047425218.1:c.3043G>T, XP_005269863.2:p.Asp1213Asn, XP_005269863.2:p.Asp1213Tyr, XP_005269864.2:p.Asp1208Asn, XP_005269864.2:p.Asp1208Tyr, XP_006717894.2:p.Asp1186Asn, XP_006717894.2:p.Asp1186Tyr, XP_006717895.2:p.Asp1141Asn, XP_006717895.2:p.Asp1141Tyr, XP_005269867.2:p.Asp605Asn, XP_005269867.2:p.Asp605Tyr, NP_001005751.1:p.Asp1237Asn, NP_001005751.1:p.Asp1237Tyr, XP_011538088.1:p.Asp1104Asn, XP_011538088.1:p.Asp1104Tyr, NP_001278327.1:p.Asp1216Asn, NP_001278327.1:p.Asp1216Tyr, XP_016871716.1:p.Asp1196Asn, XP_016871716.1:p.Asp1196Tyr, XP_016871717.1:p.Asp1192Asn, XP_016871717.1:p.Asp1192Tyr, XP_016871718.1:p.Asp1187Asn, XP_016871718.1:p.Asp1187Tyr, NP_001317031.1:p.Asp1175Asn, NP_001317031.1:p.Asp1175Tyr, XP_016871720.1:p.Asp1165Asn, XP_016871720.1:p.Asp1165Tyr, XP_016871721.1:p.Asp1163Asn, XP_016871721.1:p.Asp1163Tyr, XP_016871722.1:p.Asp1044Asn, XP_016871722.1:p.Asp1044Tyr, XP_024303759.1:p.Asp607Asn, XP_024303759.1:p.Asp607Tyr, XP_047281162.1:p.Asp1184Asn, XP_047281162.1:p.Asp1184Tyr, XP_047281163.1:p.Asp1167Asn, XP_047281163.1:p.Asp1167Tyr, XP_047281164.1:p.Asp1162Asn, XP_047281164.1:p.Asp1162Tyr, XP_047281165.1:p.Asp1157Asn, XP_047281165.1:p.Asp1157Tyr, XP_047281166.1:p.Asp1151Asn, XP_047281166.1:p.Asp1151Tyr, XP_047281167.1:p.Asp1146Asn, XP_047281167.1:p.Asp1146Tyr, XP_047281168.1:p.Asp1145Asn, XP_047281168.1:p.Asp1145Tyr, XP_047281169.1:p.Asp1136Asn, XP_047281169.1:p.Asp1136Tyr, XP_047281170.1:p.Asp1124Asn, XP_047281170.1:p.Asp1124Tyr, XP_047281171.1:p.Asp1112Asn, XP_047281171.1:p.Asp1112Tyr, XP_047281172.1:p.Asp1075Asn, XP_047281172.1:p.Asp1075Tyr, XP_047281173.1:p.Asp1053Asn, XP_047281173.1:p.Asp1053Tyr, XP_047281174.1:p.Asp1015Asn, XP_047281174.1:p.Asp1015Tyr

                    10.

                    rs1485033879 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:50080871 (GRCh38)
                      10:51840631 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:50080870:A:G
                      Gene:
                      WASHC2A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000010.11:g.50080871A>G, NC_000010.10:g.51840631A>G, NW_004504302.1:g.260046A>G, XM_005269806.4:c.468A>G, XM_005269806.3:c.468A>G, XM_005269806.2:c.468A>G, XM_005269806.1:c.624A>G, XM_005269807.4:c.468A>G, XM_005269807.3:c.468A>G, XM_005269807.2:c.468A>G, XM_005269807.1:c.624A>G, XM_006717831.4:c.468A>G, XM_006717831.3:c.468A>G, XM_006717831.2:c.468A>G, XM_006717831.1:c.624A>G, XM_006717832.4:c.468A>G, XM_006717832.3:c.468A>G, XM_006717832.2:c.468A>G, XM_006717832.1:c.624A>G, NM_001005751.3:c.468A>G, NM_001005751.2:c.468A>G, NM_001005751.1:c.468A>G, XM_011539786.3:c.468A>G, XM_011539786.2:c.468A>G, XM_011539786.1:c.468A>G, NM_001291398.2:c.468A>G, NM_001291398.1:c.468A>G, XM_017016227.2:c.468A>G, XM_017016227.1:c.468A>G, XM_017016228.2:c.468A>G, XM_017016228.1:c.468A>G, XM_017016229.2:c.468A>G, XM_017016229.1:c.468A>G, NM_001330102.2:c.468A>G, NM_001330102.1:c.468A>G, XM_017016231.2:c.468A>G, XM_017016231.1:c.468A>G, XM_017016232.2:c.468A>G, XM_017016232.1:c.468A>G, XM_047425206.1:c.468A>G, XM_047425207.1:c.468A>G, XM_047425208.1:c.468A>G, XM_047425209.1:c.468A>G, XM_047425210.1:c.468A>G, XM_047425211.1:c.468A>G, XM_047425212.1:c.468A>G, XM_047425213.1:c.468A>G, NM_018232.1:c.204A>G, XM_047425214.1:c.468A>G, XM_047425215.1:c.468A>G, XM_047425216.1:c.468A>G, XM_047425217.1:c.468A>G, XM_047425219.1:c.468A>G, XM_047425220.1:c.468A>G

                      11.

                      rs1484572577 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        10:50127767 (GRCh38)
                        10:51887527 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:50127766:A:C,NC_000010.11:50127766:A:G
                        Gene:
                        WASHC2A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        HGVS:
                        NC_000010.11:g.50127767A>C, NC_000010.11:g.50127767A>G, NC_000010.10:g.51887527A>C, NC_000010.10:g.51887527A>G, XM_005269806.4:c.2987A>C, XM_005269806.4:c.2987A>G, XM_005269806.3:c.2987A>C, XM_005269806.3:c.2987A>G, XM_005269806.2:c.2987A>C, XM_005269806.2:c.2987A>G, XM_005269806.1:c.3143A>C, XM_005269806.1:c.3143A>G, XM_005269807.4:c.2972A>C, XM_005269807.4:c.2972A>G, XM_005269807.3:c.2972A>C, XM_005269807.3:c.2972A>G, XM_005269807.2:c.2972A>C, XM_005269807.2:c.2972A>G, XM_005269807.1:c.3128A>C, XM_005269807.1:c.3128A>G, XM_006717831.4:c.2906A>C, XM_006717831.4:c.2906A>G, XM_006717831.3:c.2906A>C, XM_006717831.3:c.2906A>G, XM_006717831.2:c.2906A>C, XM_006717831.2:c.2906A>G, XM_006717831.1:c.3062A>C, XM_006717831.1:c.3062A>G, XM_006717832.4:c.2771A>C, XM_006717832.4:c.2771A>G, XM_006717832.3:c.2771A>C, XM_006717832.3:c.2771A>G, XM_006717832.2:c.2771A>C, XM_006717832.2:c.2771A>G, XM_006717832.1:c.2927A>C, XM_006717832.1:c.2927A>G, XM_005269810.4:c.1163A>C, XM_005269810.4:c.1163A>G, XM_005269810.3:c.1163A>C, XM_005269810.3:c.1163A>G, XM_005269810.2:c.1163A>C, XM_005269810.2:c.1163A>G, XM_005269810.1:c.1262A>C, XM_005269810.1:c.1262A>G, NM_001005751.3:c.3059A>C, NM_001005751.3:c.3059A>G, NM_001005751.2:c.3059A>C, NM_001005751.2:c.3059A>G, NM_001005751.1:c.3059A>C, NM_001005751.1:c.3059A>G, NM_001291398.2:c.2996A>C, NM_001291398.2:c.2996A>G, NM_001291398.1:c.2996A>C, NM_001291398.1:c.2996A>G, XM_017016227.2:c.2936A>C, XM_017016227.2:c.2936A>G, XM_017016227.1:c.2936A>C, XM_017016227.1:c.2936A>G, XM_017016228.2:c.2924A>C, XM_017016228.2:c.2924A>G, XM_017016228.1:c.2924A>C, XM_017016228.1:c.2924A>G, XM_017016229.2:c.2909A>C, XM_017016229.2:c.2909A>G, XM_017016229.1:c.2909A>C, XM_017016229.1:c.2909A>G, NM_001330102.2:c.2873A>C, NM_001330102.2:c.2873A>G, NM_001330102.1:c.2873A>C, NM_001330102.1:c.2873A>G, XM_017016231.2:c.2843A>C, XM_017016231.2:c.2843A>G, XM_017016231.1:c.2843A>C, XM_017016231.1:c.2843A>G, XM_017016232.2:c.2837A>C, XM_017016232.2:c.2837A>G, XM_017016232.1:c.2837A>C, XM_017016232.1:c.2837A>G, XM_017016233.2:c.2480A>C, XM_017016233.2:c.2480A>G, XM_017016233.1:c.2480A>C, XM_017016233.1:c.2480A>G, XM_024447991.2:c.1169A>C, XM_024447991.2:c.1169A>G, XM_024447991.1:c.1169A>C, XM_024447991.1:c.1169A>G, XM_047425206.1:c.2900A>C, XM_047425206.1:c.2900A>G, XM_047425207.1:c.2849A>C, XM_047425207.1:c.2849A>G, XM_047425208.1:c.2834A>C, XM_047425208.1:c.2834A>G, XM_047425209.1:c.2819A>C, XM_047425209.1:c.2819A>G, XM_047425210.1:c.2801A>C, XM_047425210.1:c.2801A>G, XM_047425211.1:c.2786A>C, XM_047425211.1:c.2786A>G, XM_047425212.1:c.2783A>C, XM_047425212.1:c.2783A>G, XM_047425213.1:c.2756A>C, XM_047425213.1:c.2756A>G, NM_018232.1:c.2795A>C, NM_018232.1:c.2795A>G, XM_047425214.1:c.2720A>C, XM_047425214.1:c.2720A>G, XM_047425215.1:c.2684A>C, XM_047425215.1:c.2684A>G, XM_047425218.1:c.2393A>C, XM_047425218.1:c.2393A>G, XP_005269863.2:p.Gln996Pro, XP_005269863.2:p.Gln996Arg, XP_005269864.2:p.Gln991Pro, XP_005269864.2:p.Gln991Arg, XP_006717894.2:p.Gln969Pro, XP_006717894.2:p.Gln969Arg, XP_006717895.2:p.Gln924Pro, XP_006717895.2:p.Gln924Arg, XP_005269867.2:p.Gln388Pro, XP_005269867.2:p.Gln388Arg, NP_001005751.1:p.Gln1020Pro, NP_001005751.1:p.Gln1020Arg, NP_001278327.1:p.Gln999Pro, NP_001278327.1:p.Gln999Arg, XP_016871716.1:p.Gln979Pro, XP_016871716.1:p.Gln979Arg, XP_016871717.1:p.Gln975Pro, XP_016871717.1:p.Gln975Arg, XP_016871718.1:p.Gln970Pro, XP_016871718.1:p.Gln970Arg, NP_001317031.1:p.Gln958Pro, NP_001317031.1:p.Gln958Arg, XP_016871720.1:p.Gln948Pro, XP_016871720.1:p.Gln948Arg, XP_016871721.1:p.Gln946Pro, XP_016871721.1:p.Gln946Arg, XP_016871722.1:p.Gln827Pro, XP_016871722.1:p.Gln827Arg, XP_024303759.1:p.Gln390Pro, XP_024303759.1:p.Gln390Arg, XP_047281162.1:p.Gln967Pro, XP_047281162.1:p.Gln967Arg, XP_047281163.1:p.Gln950Pro, XP_047281163.1:p.Gln950Arg, XP_047281164.1:p.Gln945Pro, XP_047281164.1:p.Gln945Arg, XP_047281165.1:p.Gln940Pro, XP_047281165.1:p.Gln940Arg, XP_047281166.1:p.Gln934Pro, XP_047281166.1:p.Gln934Arg, XP_047281167.1:p.Gln929Pro, XP_047281167.1:p.Gln929Arg, XP_047281168.1:p.Gln928Pro, XP_047281168.1:p.Gln928Arg, XP_047281169.1:p.Gln919Pro, XP_047281169.1:p.Gln919Arg, XP_047281170.1:p.Gln907Pro, XP_047281170.1:p.Gln907Arg, XP_047281171.1:p.Gln895Pro, XP_047281171.1:p.Gln895Arg, XP_047281174.1:p.Gln798Pro, XP_047281174.1:p.Gln798Arg

                        12.

                        rs1483981823 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          10:50129580 (GRCh38)
                          10:51889340 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:50129579:C:G
                          Gene:
                          WASHC2A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.00004/2 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.50129580C>G, NC_000010.10:g.51889340C>G, XM_005269806.4:c.3177C>G, XM_005269806.3:c.3177C>G, XM_005269806.2:c.3177C>G, XM_005269806.1:c.3333C>G, XM_005269807.4:c.3162C>G, XM_005269807.3:c.3162C>G, XM_005269807.2:c.3162C>G, XM_005269807.1:c.3318C>G, XM_006717831.4:c.3096C>G, XM_006717831.3:c.3096C>G, XM_006717831.2:c.3096C>G, XM_006717831.1:c.3252C>G, XM_006717832.4:c.2961C>G, XM_006717832.3:c.2961C>G, XM_006717832.2:c.2961C>G, XM_006717832.1:c.3117C>G, XM_005269810.4:c.1353C>G, XM_005269810.3:c.1353C>G, XM_005269810.2:c.1353C>G, XM_005269810.1:c.1452C>G, NM_001005751.3:c.3249C>G, NM_001005751.2:c.3249C>G, NM_001005751.1:c.3249C>G, XM_011539786.3:c.2850C>G, XM_011539786.2:c.2850C>G, XM_011539786.1:c.2850C>G, NM_001291398.2:c.3186C>G, NM_001291398.1:c.3186C>G, XM_017016227.2:c.3126C>G, XM_017016227.1:c.3126C>G, XM_017016228.2:c.3114C>G, XM_017016228.1:c.3114C>G, XM_017016229.2:c.3099C>G, XM_017016229.1:c.3099C>G, NM_001330102.2:c.3063C>G, NM_001330102.1:c.3063C>G, XM_017016231.2:c.3033C>G, XM_017016231.1:c.3033C>G, XM_017016232.2:c.3027C>G, XM_017016232.1:c.3027C>G, XM_017016233.2:c.2670C>G, XM_017016233.1:c.2670C>G, XM_024447991.2:c.1359C>G, XM_024447991.1:c.1359C>G, XM_047425206.1:c.3090C>G, XM_047425207.1:c.3039C>G, XM_047425208.1:c.3024C>G, XM_047425209.1:c.3009C>G, XM_047425210.1:c.2991C>G, XM_047425211.1:c.2976C>G, XM_047425212.1:c.2973C>G, XM_047425213.1:c.2946C>G, NM_018232.1:c.2985C>G, XM_047425214.1:c.2910C>G, XM_047425215.1:c.2874C>G, XM_047425216.1:c.2763C>G, XM_047425217.1:c.2697C>G, XM_047425218.1:c.2583C>G

                          13.

                          rs1483325513 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:50097759 (GRCh38)
                            10:51857519 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:50097758:C:T
                            Gene:
                            WASHC2A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000048/2 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.50097759C>T, NC_000010.10:g.51857519C>T, NW_004504302.1:g.276934C>T, XM_005269806.4:c.1433C>T, XM_005269806.3:c.1433C>T, XM_005269806.2:c.1433C>T, XM_005269806.1:c.1589C>T, XM_005269807.4:c.1505C>T, XM_005269807.3:c.1505C>T, XM_005269807.2:c.1505C>T, XM_005269807.1:c.1661C>T, XM_006717831.4:c.1505C>T, XM_006717831.3:c.1505C>T, XM_006717831.2:c.1505C>T, XM_006717831.1:c.1661C>T, XM_006717832.4:c.1433C>T, XM_006717832.3:c.1433C>T, XM_006717832.2:c.1433C>T, XM_006717832.1:c.1589C>T, NM_001005751.3:c.1505C>T, NM_001005751.2:c.1505C>T, NM_001005751.1:c.1505C>T, XM_011539786.3:c.1505C>T, XM_011539786.2:c.1505C>T, XM_011539786.1:c.1505C>T, NM_001291398.2:c.1505C>T, NM_001291398.1:c.1505C>T, XM_017016227.2:c.1505C>T, XM_017016227.1:c.1505C>T, XM_017016228.2:c.1433C>T, XM_017016228.1:c.1433C>T, XM_017016229.2:c.1505C>T, XM_017016229.1:c.1505C>T, NM_001330102.2:c.1505C>T, NM_001330102.1:c.1505C>T, XM_017016231.2:c.1505C>T, XM_017016231.1:c.1505C>T, XM_017016232.2:c.1433C>T, XM_017016232.1:c.1433C>T, XM_017016233.2:c.926C>T, XM_017016233.1:c.926C>T, XM_024447991.2:c.-129C>T, XM_024447991.1:c.-129C>T, XM_047425206.1:c.1433C>T, XM_047425207.1:c.1505C>T, XM_047425208.1:c.1433C>T, XM_047425209.1:c.1505C>T, XM_047425210.1:c.1433C>T, XM_047425211.1:c.1505C>T, XM_047425212.1:c.1505C>T, XM_047425213.1:c.1505C>T, NM_018232.1:c.1241C>T, XM_047425214.1:c.1505C>T, XM_047425215.1:c.1433C>T, XM_047425216.1:c.1505C>T, XM_047425217.1:c.1505C>T, XM_047425218.1:c.926C>T, XM_047425219.1:c.1505C>T, XM_047425220.1:c.1505C>T, XP_005269863.2:p.Thr478Ile, XP_005269864.2:p.Thr502Ile, XP_006717894.2:p.Thr502Ile, XP_006717895.2:p.Thr478Ile, NP_001005751.1:p.Thr502Ile, XP_011538088.1:p.Thr502Ile, NP_001278327.1:p.Thr502Ile, XP_016871716.1:p.Thr502Ile, XP_016871717.1:p.Thr478Ile, XP_016871718.1:p.Thr502Ile, NP_001317031.1:p.Thr502Ile, XP_016871720.1:p.Thr502Ile, XP_016871721.1:p.Thr478Ile, XP_016871722.1:p.Thr309Ile, XP_047281162.1:p.Thr478Ile, XP_047281163.1:p.Thr502Ile, XP_047281164.1:p.Thr478Ile, XP_047281165.1:p.Thr502Ile, XP_047281166.1:p.Thr478Ile, XP_047281167.1:p.Thr502Ile, XP_047281168.1:p.Thr502Ile, XP_047281169.1:p.Thr502Ile, XP_047281170.1:p.Thr502Ile, XP_047281171.1:p.Thr478Ile, XP_047281172.1:p.Thr502Ile, XP_047281173.1:p.Thr502Ile, XP_047281174.1:p.Thr309Ile, XP_047281175.1:p.Thr502Ile, XP_047281176.1:p.Thr502Ile

                            14.

                            rs1481475291 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:50069659 (GRCh38)
                              10:51829419 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:50069658:A:G
                              Gene:
                              WASHC2A (Varview), FAM21EP (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              NC_000010.11:g.50069659A>G, NC_000010.10:g.51829419A>G, NW_004504302.1:g.248834A>G, XM_005269806.4:c.239A>G, XM_005269806.3:c.239A>G, XM_005269806.2:c.239A>G, XM_005269806.1:c.395A>G, XM_005269807.4:c.239A>G, XM_005269807.3:c.239A>G, XM_005269807.2:c.239A>G, XM_005269807.1:c.395A>G, XM_006717831.4:c.239A>G, XM_006717831.3:c.239A>G, XM_006717831.2:c.239A>G, XM_006717831.1:c.395A>G, XM_006717832.4:c.239A>G, XM_006717832.3:c.239A>G, XM_006717832.2:c.239A>G, XM_006717832.1:c.395A>G, NM_001005751.3:c.239A>G, NM_001005751.2:c.239A>G, NM_001005751.1:c.239A>G, XM_011539786.3:c.239A>G, XM_011539786.2:c.239A>G, XM_011539786.1:c.239A>G, NM_001291398.2:c.239A>G, NM_001291398.1:c.239A>G, XM_017016227.2:c.239A>G, XM_017016227.1:c.239A>G, XM_017016228.2:c.239A>G, XM_017016228.1:c.239A>G, XM_017016229.2:c.239A>G, XM_017016229.1:c.239A>G, NM_001330102.2:c.239A>G, NM_001330102.1:c.239A>G, XM_017016231.2:c.239A>G, XM_017016231.1:c.239A>G, XM_017016232.2:c.239A>G, XM_017016232.1:c.239A>G, XM_047425206.1:c.239A>G, XM_047425207.1:c.239A>G, XM_047425208.1:c.239A>G, XM_047425209.1:c.239A>G, XM_047425210.1:c.239A>G, XM_047425211.1:c.239A>G, XM_047425212.1:c.239A>G, XM_047425213.1:c.239A>G, XM_047425214.1:c.239A>G, XM_047425215.1:c.239A>G, XM_047425216.1:c.239A>G, XM_047425217.1:c.239A>G, XM_047425219.1:c.239A>G, XM_047425220.1:c.239A>G, XP_005269863.2:p.His80Arg, XP_005269864.2:p.His80Arg, XP_006717894.2:p.His80Arg, XP_006717895.2:p.His80Arg, NP_001005751.1:p.His80Arg, XP_011538088.1:p.His80Arg, NP_001278327.1:p.His80Arg, XP_016871716.1:p.His80Arg, XP_016871717.1:p.His80Arg, XP_016871718.1:p.His80Arg, NP_001317031.1:p.His80Arg, XP_016871720.1:p.His80Arg, XP_016871721.1:p.His80Arg, XP_047281162.1:p.His80Arg, XP_047281163.1:p.His80Arg, XP_047281164.1:p.His80Arg, XP_047281165.1:p.His80Arg, XP_047281166.1:p.His80Arg, XP_047281167.1:p.His80Arg, XP_047281168.1:p.His80Arg, XP_047281169.1:p.His80Arg, XP_047281170.1:p.His80Arg, XP_047281171.1:p.His80Arg, XP_047281172.1:p.His80Arg, XP_047281173.1:p.His80Arg, XP_047281175.1:p.His80Arg, XP_047281176.1:p.His80Arg

                              15.

                              rs1480740234 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                10:50069649 (GRCh38)
                                10:51829409 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:50069648:T:G
                                Gene:
                                WASHC2A (Varview), FAM21EP (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000043/1 (ALFA)
                                G=0.000008/2 (GnomAD_exomes)
                                G=0.000019/5 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000010.11:g.50069649T>G, NC_000010.10:g.51829409T>G, NW_004504302.1:g.248824T>G, XM_005269806.4:c.229T>G, XM_005269806.3:c.229T>G, XM_005269806.2:c.229T>G, XM_005269806.1:c.385T>G, XM_005269807.4:c.229T>G, XM_005269807.3:c.229T>G, XM_005269807.2:c.229T>G, XM_005269807.1:c.385T>G, XM_006717831.4:c.229T>G, XM_006717831.3:c.229T>G, XM_006717831.2:c.229T>G, XM_006717831.1:c.385T>G, XM_006717832.4:c.229T>G, XM_006717832.3:c.229T>G, XM_006717832.2:c.229T>G, XM_006717832.1:c.385T>G, NM_001005751.3:c.229T>G, NM_001005751.2:c.229T>G, NM_001005751.1:c.229T>G, XM_011539786.3:c.229T>G, XM_011539786.2:c.229T>G, XM_011539786.1:c.229T>G, NM_001291398.2:c.229T>G, NM_001291398.1:c.229T>G, XM_017016227.2:c.229T>G, XM_017016227.1:c.229T>G, XM_017016228.2:c.229T>G, XM_017016228.1:c.229T>G, XM_017016229.2:c.229T>G, XM_017016229.1:c.229T>G, NM_001330102.2:c.229T>G, NM_001330102.1:c.229T>G, XM_017016231.2:c.229T>G, XM_017016231.1:c.229T>G, XM_017016232.2:c.229T>G, XM_017016232.1:c.229T>G, XM_047425206.1:c.229T>G, XM_047425207.1:c.229T>G, XM_047425208.1:c.229T>G, XM_047425209.1:c.229T>G, XM_047425210.1:c.229T>G, XM_047425211.1:c.229T>G, XM_047425212.1:c.229T>G, XM_047425213.1:c.229T>G, XM_047425214.1:c.229T>G, XM_047425215.1:c.229T>G, XM_047425216.1:c.229T>G, XM_047425217.1:c.229T>G, XM_047425219.1:c.229T>G, XM_047425220.1:c.229T>G, XP_005269863.2:p.Cys77Gly, XP_005269864.2:p.Cys77Gly, XP_006717894.2:p.Cys77Gly, XP_006717895.2:p.Cys77Gly, NP_001005751.1:p.Cys77Gly, XP_011538088.1:p.Cys77Gly, NP_001278327.1:p.Cys77Gly, XP_016871716.1:p.Cys77Gly, XP_016871717.1:p.Cys77Gly, XP_016871718.1:p.Cys77Gly, NP_001317031.1:p.Cys77Gly, XP_016871720.1:p.Cys77Gly, XP_016871721.1:p.Cys77Gly, XP_047281162.1:p.Cys77Gly, XP_047281163.1:p.Cys77Gly, XP_047281164.1:p.Cys77Gly, XP_047281165.1:p.Cys77Gly, XP_047281166.1:p.Cys77Gly, XP_047281167.1:p.Cys77Gly, XP_047281168.1:p.Cys77Gly, XP_047281169.1:p.Cys77Gly, XP_047281170.1:p.Cys77Gly, XP_047281171.1:p.Cys77Gly, XP_047281172.1:p.Cys77Gly, XP_047281173.1:p.Cys77Gly, XP_047281175.1:p.Cys77Gly, XP_047281176.1:p.Cys77Gly

                                16.

                                rs1480292596 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  10:50130913 (GRCh38)
                                  10:51890673 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:50130912:G:A
                                  Gene:
                                  WASHC2A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000018/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.50130913G>A, NC_000010.10:g.51890673G>A, XM_005269806.4:c.3649G>A, XM_005269806.3:c.3649G>A, XM_005269806.2:c.3649G>A, XM_005269806.1:c.3805G>A, XM_005269807.4:c.3634G>A, XM_005269807.3:c.3634G>A, XM_005269807.2:c.3634G>A, XM_005269807.1:c.3790G>A, XM_006717831.4:c.3568G>A, XM_006717831.3:c.3568G>A, XM_006717831.2:c.3568G>A, XM_006717831.1:c.3724G>A, XM_006717832.4:c.3433G>A, XM_006717832.3:c.3433G>A, XM_006717832.2:c.3433G>A, XM_006717832.1:c.3589G>A, XM_005269810.4:c.1825G>A, XM_005269810.3:c.1825G>A, XM_005269810.2:c.1825G>A, XM_005269810.1:c.1924G>A, NM_001005751.3:c.3721G>A, NM_001005751.2:c.3721G>A, NM_001005751.1:c.3721G>A, XM_011539786.3:c.3322G>A, XM_011539786.2:c.3322G>A, XM_011539786.1:c.3322G>A, NM_001291398.2:c.3658G>A, NM_001291398.1:c.3658G>A, XM_017016227.2:c.3598G>A, XM_017016227.1:c.3598G>A, XM_017016228.2:c.3586G>A, XM_017016228.1:c.3586G>A, XM_017016229.2:c.3571G>A, XM_017016229.1:c.3571G>A, NM_001330102.2:c.3535G>A, NM_001330102.1:c.3535G>A, XM_017016231.2:c.3505G>A, XM_017016231.1:c.3505G>A, XM_017016232.2:c.3499G>A, XM_017016232.1:c.3499G>A, XM_017016233.2:c.3142G>A, XM_017016233.1:c.3142G>A, XM_024447991.2:c.1831G>A, XM_024447991.1:c.1831G>A, XM_047425206.1:c.3562G>A, XM_047425207.1:c.3511G>A, XM_047425208.1:c.3496G>A, XM_047425209.1:c.3481G>A, XM_047425210.1:c.3463G>A, XM_047425211.1:c.3448G>A, XM_047425212.1:c.3445G>A, XM_047425213.1:c.3418G>A, NM_018232.1:c.3457G>A, XM_047425214.1:c.3382G>A, XM_047425215.1:c.3346G>A, XM_047425216.1:c.3235G>A, XM_047425217.1:c.3169G>A, XM_047425218.1:c.3055G>A, XP_005269863.2:p.Ala1217Thr, XP_005269864.2:p.Ala1212Thr, XP_006717894.2:p.Ala1190Thr, XP_006717895.2:p.Ala1145Thr, XP_005269867.2:p.Ala609Thr, NP_001005751.1:p.Ala1241Thr, XP_011538088.1:p.Ala1108Thr, NP_001278327.1:p.Ala1220Thr, XP_016871716.1:p.Ala1200Thr, XP_016871717.1:p.Ala1196Thr, XP_016871718.1:p.Ala1191Thr, NP_001317031.1:p.Ala1179Thr, XP_016871720.1:p.Ala1169Thr, XP_016871721.1:p.Ala1167Thr, XP_016871722.1:p.Ala1048Thr, XP_024303759.1:p.Ala611Thr, XP_047281162.1:p.Ala1188Thr, XP_047281163.1:p.Ala1171Thr, XP_047281164.1:p.Ala1166Thr, XP_047281165.1:p.Ala1161Thr, XP_047281166.1:p.Ala1155Thr, XP_047281167.1:p.Ala1150Thr, XP_047281168.1:p.Ala1149Thr, XP_047281169.1:p.Ala1140Thr, XP_047281170.1:p.Ala1128Thr, XP_047281171.1:p.Ala1116Thr, XP_047281172.1:p.Ala1079Thr, XP_047281173.1:p.Ala1057Thr, XP_047281174.1:p.Ala1019Thr

                                  17.

                                  rs1479966006 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    10:50097744 (GRCh38)
                                    10:51857504 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:50097743:C:A
                                    Gene:
                                    WASHC2A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000142/2 (ALFA)
                                    A=0.000015/2 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.50097744C>A, NC_000010.10:g.51857504C>A, NW_004504302.1:g.276919C>A, XM_005269806.4:c.1418C>A, XM_005269806.3:c.1418C>A, XM_005269806.2:c.1418C>A, XM_005269806.1:c.1574C>A, XM_005269807.4:c.1490C>A, XM_005269807.3:c.1490C>A, XM_005269807.2:c.1490C>A, XM_005269807.1:c.1646C>A, XM_006717831.4:c.1490C>A, XM_006717831.3:c.1490C>A, XM_006717831.2:c.1490C>A, XM_006717831.1:c.1646C>A, XM_006717832.4:c.1418C>A, XM_006717832.3:c.1418C>A, XM_006717832.2:c.1418C>A, XM_006717832.1:c.1574C>A, NM_001005751.3:c.1490C>A, NM_001005751.2:c.1490C>A, NM_001005751.1:c.1490C>A, XM_011539786.3:c.1490C>A, XM_011539786.2:c.1490C>A, XM_011539786.1:c.1490C>A, NM_001291398.2:c.1490C>A, NM_001291398.1:c.1490C>A, XM_017016227.2:c.1490C>A, XM_017016227.1:c.1490C>A, XM_017016228.2:c.1418C>A, XM_017016228.1:c.1418C>A, XM_017016229.2:c.1490C>A, XM_017016229.1:c.1490C>A, NM_001330102.2:c.1490C>A, NM_001330102.1:c.1490C>A, XM_017016231.2:c.1490C>A, XM_017016231.1:c.1490C>A, XM_017016232.2:c.1418C>A, XM_017016232.1:c.1418C>A, XM_017016233.2:c.911C>A, XM_017016233.1:c.911C>A, XM_024447991.2:c.-144C>A, XM_024447991.1:c.-144C>A, XM_047425206.1:c.1418C>A, XM_047425207.1:c.1490C>A, XM_047425208.1:c.1418C>A, XM_047425209.1:c.1490C>A, XM_047425210.1:c.1418C>A, XM_047425211.1:c.1490C>A, XM_047425212.1:c.1490C>A, XM_047425213.1:c.1490C>A, NM_018232.1:c.1226C>A, XM_047425214.1:c.1490C>A, XM_047425215.1:c.1418C>A, XM_047425216.1:c.1490C>A, XM_047425217.1:c.1490C>A, XM_047425218.1:c.911C>A, XM_047425219.1:c.1490C>A, XM_047425220.1:c.1490C>A, XP_005269863.2:p.Ala473Glu, XP_005269864.2:p.Ala497Glu, XP_006717894.2:p.Ala497Glu, XP_006717895.2:p.Ala473Glu, NP_001005751.1:p.Ala497Glu, XP_011538088.1:p.Ala497Glu, NP_001278327.1:p.Ala497Glu, XP_016871716.1:p.Ala497Glu, XP_016871717.1:p.Ala473Glu, XP_016871718.1:p.Ala497Glu, NP_001317031.1:p.Ala497Glu, XP_016871720.1:p.Ala497Glu, XP_016871721.1:p.Ala473Glu, XP_016871722.1:p.Ala304Glu, XP_047281162.1:p.Ala473Glu, XP_047281163.1:p.Ala497Glu, XP_047281164.1:p.Ala473Glu, XP_047281165.1:p.Ala497Glu, XP_047281166.1:p.Ala473Glu, XP_047281167.1:p.Ala497Glu, XP_047281168.1:p.Ala497Glu, XP_047281169.1:p.Ala497Glu, XP_047281170.1:p.Ala497Glu, XP_047281171.1:p.Ala473Glu, XP_047281172.1:p.Ala497Glu, XP_047281173.1:p.Ala497Glu, XP_047281174.1:p.Ala304Glu, XP_047281175.1:p.Ala497Glu, XP_047281176.1:p.Ala497Glu

                                    18.

                                    rs1479947672 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:50085507 (GRCh38)
                                      10:51845267 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:50085506:A:G
                                      Gene:
                                      WASHC2A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000010.11:g.50085507A>G, NC_000010.10:g.51845267A>G, NW_004504302.1:g.264682A>G, XM_005269806.4:c.633A>G, XM_005269806.3:c.633A>G, XM_005269806.2:c.633A>G, XM_005269806.1:c.789A>G, XM_005269807.4:c.633A>G, XM_005269807.3:c.633A>G, XM_005269807.2:c.633A>G, XM_005269807.1:c.789A>G, XM_006717831.4:c.633A>G, XM_006717831.3:c.633A>G, XM_006717831.2:c.633A>G, XM_006717831.1:c.789A>G, XM_006717832.4:c.633A>G, XM_006717832.3:c.633A>G, XM_006717832.2:c.633A>G, XM_006717832.1:c.789A>G, NM_001005751.3:c.633A>G, NM_001005751.2:c.633A>G, NM_001005751.1:c.633A>G, XM_011539786.3:c.633A>G, XM_011539786.2:c.633A>G, XM_011539786.1:c.633A>G, NM_001291398.2:c.633A>G, NM_001291398.1:c.633A>G, XM_017016227.2:c.633A>G, XM_017016227.1:c.633A>G, XM_017016228.2:c.633A>G, XM_017016228.1:c.633A>G, XM_017016229.2:c.633A>G, XM_017016229.1:c.633A>G, NM_001330102.2:c.633A>G, NM_001330102.1:c.633A>G, XM_017016231.2:c.633A>G, XM_017016231.1:c.633A>G, XM_017016232.2:c.633A>G, XM_017016232.1:c.633A>G, XM_017016233.2:c.54A>G, XM_017016233.1:c.54A>G, XM_047425206.1:c.633A>G, XM_047425207.1:c.633A>G, XM_047425208.1:c.633A>G, XM_047425209.1:c.633A>G, XM_047425210.1:c.633A>G, XM_047425211.1:c.633A>G, XM_047425212.1:c.633A>G, XM_047425213.1:c.633A>G, NM_018232.1:c.369A>G, XM_047425214.1:c.633A>G, XM_047425215.1:c.633A>G, XM_047425216.1:c.633A>G, XM_047425217.1:c.633A>G, XM_047425218.1:c.54A>G, XM_047425219.1:c.633A>G, XM_047425220.1:c.633A>G

                                      19.

                                      rs1479508879 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        10:50129797 (GRCh38)
                                        10:51889557 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:50129796:G:A
                                        Gene:
                                        WASHC2A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0./0 (GnomAD)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000042/2 (GnomAD_exomes)
                                        A=0.000156/1 (1000Genomes)
                                        HGVS:
                                        NC_000010.11:g.50129797G>A, NC_000010.10:g.51889557G>A, XM_005269806.4:c.3394G>A, XM_005269806.3:c.3394G>A, XM_005269806.2:c.3394G>A, XM_005269806.1:c.3550G>A, XM_005269807.4:c.3379G>A, XM_005269807.3:c.3379G>A, XM_005269807.2:c.3379G>A, XM_005269807.1:c.3535G>A, XM_006717831.4:c.3313G>A, XM_006717831.3:c.3313G>A, XM_006717831.2:c.3313G>A, XM_006717831.1:c.3469G>A, XM_006717832.4:c.3178G>A, XM_006717832.3:c.3178G>A, XM_006717832.2:c.3178G>A, XM_006717832.1:c.3334G>A, XM_005269810.4:c.1570G>A, XM_005269810.3:c.1570G>A, XM_005269810.2:c.1570G>A, XM_005269810.1:c.1669G>A, NM_001005751.3:c.3466G>A, NM_001005751.2:c.3466G>A, NM_001005751.1:c.3466G>A, XM_011539786.3:c.3067G>A, XM_011539786.2:c.3067G>A, XM_011539786.1:c.3067G>A, NM_001291398.2:c.3403G>A, NM_001291398.1:c.3403G>A, XM_017016227.2:c.3343G>A, XM_017016227.1:c.3343G>A, XM_017016228.2:c.3331G>A, XM_017016228.1:c.3331G>A, XM_017016229.2:c.3316G>A, XM_017016229.1:c.3316G>A, NM_001330102.2:c.3280G>A, NM_001330102.1:c.3280G>A, XM_017016231.2:c.3250G>A, XM_017016231.1:c.3250G>A, XM_017016232.2:c.3244G>A, XM_017016232.1:c.3244G>A, XM_017016233.2:c.2887G>A, XM_017016233.1:c.2887G>A, XM_024447991.2:c.1576G>A, XM_024447991.1:c.1576G>A, XM_047425206.1:c.3307G>A, XM_047425207.1:c.3256G>A, XM_047425208.1:c.3241G>A, XM_047425209.1:c.3226G>A, XM_047425210.1:c.3208G>A, XM_047425211.1:c.3193G>A, XM_047425212.1:c.3190G>A, XM_047425213.1:c.3163G>A, NM_018232.1:c.3202G>A, XM_047425214.1:c.3127G>A, XM_047425215.1:c.3091G>A, XM_047425216.1:c.2980G>A, XM_047425217.1:c.2914G>A, XM_047425218.1:c.2800G>A, XP_005269863.2:p.Glu1132Lys, XP_005269864.2:p.Glu1127Lys, XP_006717894.2:p.Glu1105Lys, XP_006717895.2:p.Glu1060Lys, XP_005269867.2:p.Glu524Lys, NP_001005751.1:p.Glu1156Lys, XP_011538088.1:p.Glu1023Lys, NP_001278327.1:p.Glu1135Lys, XP_016871716.1:p.Glu1115Lys, XP_016871717.1:p.Glu1111Lys, XP_016871718.1:p.Glu1106Lys, NP_001317031.1:p.Glu1094Lys, XP_016871720.1:p.Glu1084Lys, XP_016871721.1:p.Glu1082Lys, XP_016871722.1:p.Glu963Lys, XP_024303759.1:p.Glu526Lys, XP_047281162.1:p.Glu1103Lys, XP_047281163.1:p.Glu1086Lys, XP_047281164.1:p.Glu1081Lys, XP_047281165.1:p.Glu1076Lys, XP_047281166.1:p.Glu1070Lys, XP_047281167.1:p.Glu1065Lys, XP_047281168.1:p.Glu1064Lys, XP_047281169.1:p.Glu1055Lys, XP_047281170.1:p.Glu1043Lys, XP_047281171.1:p.Glu1031Lys, XP_047281172.1:p.Glu994Lys, XP_047281173.1:p.Glu972Lys, XP_047281174.1:p.Glu934Lys

                                        20.

                                        rs1479369866 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:50119634 (GRCh38)
                                          10:51879394 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:50119633:T:C
                                          Gene:
                                          WASHC2A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000017/2 (GnomAD)
                                          HGVS:
                                          NC_000010.11:g.50119634T>C, NC_000010.10:g.51879394T>C, NW_004504302.1:g.298809T>C, XM_005269806.4:c.2271T>C, XM_005269806.3:c.2271T>C, XM_005269806.2:c.2271T>C, XM_005269806.1:c.2427T>C, XM_005269807.4:c.2256T>C, XM_005269807.3:c.2256T>C, XM_005269807.2:c.2256T>C, XM_005269807.1:c.2412T>C, XM_006717831.4:c.2190T>C, XM_006717831.3:c.2190T>C, XM_006717831.2:c.2190T>C, XM_006717831.1:c.2346T>C, XM_006717832.4:c.2118T>C, XM_006717832.3:c.2118T>C, XM_006717832.2:c.2118T>C, XM_006717832.1:c.2274T>C, XM_005269810.4:c.447T>C, XM_005269810.3:c.447T>C, XM_005269810.2:c.447T>C, XM_005269810.1:c.546T>C, NM_001005751.3:c.2343T>C, NM_001005751.2:c.2343T>C, NM_001005751.1:c.2343T>C, XM_011539786.3:c.2343T>C, XM_011539786.2:c.2343T>C, XM_011539786.1:c.2343T>C, NM_001291398.2:c.2343T>C, NM_001291398.1:c.2343T>C, XM_017016227.2:c.2343T>C, XM_017016227.1:c.2343T>C, XM_017016228.2:c.2271T>C, XM_017016228.1:c.2271T>C, XM_017016229.2:c.2256T>C, XM_017016229.1:c.2256T>C, NM_001330102.2:c.2343T>C, NM_001330102.1:c.2343T>C, XM_017016231.2:c.2190T>C, XM_017016231.1:c.2190T>C, XM_017016232.2:c.2184T>C, XM_017016232.1:c.2184T>C, XM_017016233.2:c.1764T>C, XM_017016233.1:c.1764T>C, XM_024447991.2:c.453T>C, XM_024447991.1:c.453T>C, XM_047425206.1:c.2184T>C, XM_047425207.1:c.2256T>C, XM_047425208.1:c.2118T>C, XM_047425209.1:c.2103T>C, XM_047425210.1:c.2271T>C, XM_047425211.1:c.2256T>C, XM_047425212.1:c.2190T>C, XM_047425213.1:c.2103T>C, NM_018232.1:c.2079T>C, XM_047425214.1:c.2190T>C, XM_047425215.1:c.2031T>C, XM_047425216.1:c.2256T>C, XM_047425217.1:c.2190T>C, XM_047425218.1:c.1677T>C

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