U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 473

1.

rs1489221730 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    X:152918127 (GRCh38)
    X:152086671 (GRCh37)
    Canonical SPDI:
    NC_000023.11:152918126:A:C,NC_000023.11:152918126:A:G
    Gene:
    ZNF185 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD_exomes)
    C=0.00001/1 (GnomAD)
    HGVS:
    NC_000023.11:g.152918127A>C, NC_000023.11:g.152918127A>G, NW_003871103.3:g.352110A>C, NW_003871103.3:g.352110A>G, NG_021255.2:g.8686A>C, NG_021255.2:g.8686A>G, NM_007150.3:c.404A>C, NM_007150.3:c.404A>G, NM_001178108.2:c.404A>C, NM_001178108.2:c.404A>G, NM_001178108.1:c.404A>C, NM_001178108.1:c.404A>G, NM_001388432.2:c.404A>C, NM_001388432.2:c.404A>G, NM_001388432.1:c.404A>C, NM_001388432.1:c.404A>G, NM_001178113.2:c.-2A>C, NM_001178113.2:c.-2A>G, NM_001178113.1:c.-2A>C, NM_001178113.1:c.-2A>G, NM_001178106.1:c.404A>C, NM_001178106.1:c.404A>G, NM_001395254.1:c.404A>C, NM_001395254.1:c.404A>G, NM_001178107.1:c.404A>C, NM_001178107.1:c.404A>G, NM_001178109.1:c.404A>C, NM_001178109.1:c.404A>G, NM_001178110.1:c.404A>C, NM_001178110.1:c.404A>G, NW_025791818.1:g.533317A>C, NW_025791818.1:g.533317A>G, NC_000023.10:g.152086671A>C, NC_000023.10:g.152086671A>G, XM_005274746.4:c.404A>C, XM_005274746.4:c.404A>G, XM_005274746.3:c.404A>C, XM_005274746.3:c.404A>G, XM_005274746.2:c.404A>C, XM_005274746.2:c.404A>G, XM_005274746.1:c.404A>C, XM_005274746.1:c.404A>G, XM_017029822.3:c.404A>C, XM_017029822.3:c.404A>G, XM_017029822.2:c.404A>C, XM_017029822.2:c.404A>G, XM_017029822.1:c.404A>C, XM_017029822.1:c.404A>G, XM_005274738.3:c.404A>C, XM_005274738.3:c.404A>G, XM_005274738.2:c.404A>C, XM_005274738.2:c.404A>G, XM_005274738.1:c.404A>C, XM_005274738.1:c.404A>G, XM_005274741.3:c.404A>C, XM_005274741.3:c.404A>G, XM_005274741.2:c.404A>C, XM_005274741.2:c.404A>G, XM_005274741.1:c.404A>C, XM_005274741.1:c.404A>G, XM_005274740.3:c.404A>C, XM_005274740.3:c.404A>G, XM_005274740.2:c.404A>C, XM_005274740.2:c.404A>G, XM_005274740.1:c.404A>C, XM_005274740.1:c.404A>G, XM_005274742.3:c.404A>C, XM_005274742.3:c.404A>G, XM_005274742.2:c.404A>C, XM_005274742.2:c.404A>G, XM_005274742.1:c.404A>C, XM_005274742.1:c.404A>G, XM_005274744.3:c.404A>C, XM_005274744.3:c.404A>G, XM_005274744.2:c.404A>C, XM_005274744.2:c.404A>G, XM_005274744.1:c.404A>C, XM_005274744.1:c.404A>G, XM_005274745.3:c.404A>C, XM_005274745.3:c.404A>G, XM_005274745.2:c.404A>C, XM_005274745.2:c.404A>G, XM_005274745.1:c.404A>C, XM_005274745.1:c.404A>G, XM_017029821.2:c.404A>C, XM_017029821.2:c.404A>G, XM_017029821.1:c.404A>C, XM_017029821.1:c.404A>G, XM_017029823.2:c.404A>C, XM_017029823.2:c.404A>G, XM_017029823.1:c.404A>C, XM_017029823.1:c.404A>G, XM_017029824.2:c.404A>C, XM_017029824.2:c.404A>G, XM_017029824.1:c.404A>C, XM_017029824.1:c.404A>G, XM_017029825.2:c.404A>C, XM_017029825.2:c.404A>G, XM_017029825.1:c.404A>C, XM_017029825.1:c.404A>G, XM_017029826.2:c.404A>C, XM_017029826.2:c.404A>G, XM_017029826.1:c.404A>C, XM_017029826.1:c.404A>G, XM_017029827.2:c.404A>C, XM_017029827.2:c.404A>G, XM_017029827.1:c.404A>C, XM_017029827.1:c.404A>G, XM_017029828.2:c.404A>C, XM_017029828.2:c.404A>G, XM_017029828.1:c.404A>C, XM_017029828.1:c.404A>G, XM_017029829.2:c.404A>C, XM_017029829.2:c.404A>G, XM_017029829.1:c.404A>C, XM_017029829.1:c.404A>G, XM_017029830.2:c.404A>C, XM_017029830.2:c.404A>G, XM_017029830.1:c.404A>C, XM_017029830.1:c.404A>G, XM_017029831.2:c.404A>C, XM_017029831.2:c.404A>G, XM_017029831.1:c.404A>C, XM_017029831.1:c.404A>G, XM_017029832.2:c.404A>C, XM_017029832.2:c.404A>G, XM_017029832.1:c.404A>C, XM_017029832.1:c.404A>G, XM_017029833.2:c.404A>C, XM_017029833.2:c.404A>G, XM_017029833.1:c.404A>C, XM_017029833.1:c.404A>G, XM_017029834.2:c.404A>C, XM_017029834.2:c.404A>G, XM_017029834.1:c.404A>C, XM_017029834.1:c.404A>G, XM_017029835.2:c.404A>C, XM_017029835.2:c.404A>G, XM_017029835.1:c.404A>C, XM_017029835.1:c.404A>G, XM_011531194.2:c.404A>C, XM_011531194.2:c.404A>G, XM_011531194.1:c.404A>C, XM_011531194.1:c.404A>G, XM_011531195.2:c.404A>C, XM_011531195.2:c.404A>G, XM_011531195.1:c.404A>C, XM_011531195.1:c.404A>G, XM_047442492.1:c.404A>C, XM_047442492.1:c.404A>G, XM_047442493.1:c.404A>C, XM_047442493.1:c.404A>G, XM_047442495.1:c.404A>C, XM_047442495.1:c.404A>G, XM_047442497.1:c.404A>C, XM_047442497.1:c.404A>G, XM_047442498.1:c.404A>C, XM_047442498.1:c.404A>G, XM_047442499.1:c.404A>C, XM_047442499.1:c.404A>G, XM_047442500.1:c.404A>C, XM_047442500.1:c.404A>G, XM_047442503.1:c.404A>C, XM_047442503.1:c.404A>G, XM_047442505.1:c.404A>C, XM_047442505.1:c.404A>G, XM_047442504.1:c.404A>C, XM_047442504.1:c.404A>G, XM_047442506.1:c.404A>C, XM_047442506.1:c.404A>G, XM_047442507.1:c.404A>C, XM_047442507.1:c.404A>G, XM_047442508.1:c.404A>C, XM_047442508.1:c.404A>G, XM_047442509.1:c.404A>C, XM_047442509.1:c.404A>G, NM_001178114.1:c.-34A>C, NM_001178114.1:c.-34A>G, XM_047442494.1:c.404A>C, XM_047442494.1:c.404A>G, XM_047442491.1:c.404A>C, XM_047442491.1:c.404A>G, XM_047442502.1:c.404A>C, XM_047442502.1:c.404A>G, XM_047442501.1:c.404A>C, XM_047442501.1:c.404A>G, XM_047442488.1:c.404A>C, XM_047442488.1:c.404A>G, XM_047442489.1:c.404A>C, XM_047442489.1:c.404A>G, XM_047442490.1:c.404A>C, XM_047442490.1:c.404A>G, XM_047442496.1:c.404A>C, XM_047442496.1:c.404A>G, NP_009081.2:p.Lys135Thr, NP_009081.2:p.Lys135Arg, NP_001171579.1:p.Lys135Thr, NP_001171579.1:p.Lys135Arg, NP_001375361.1:p.Lys135Thr, NP_001375361.1:p.Lys135Arg, NP_001171577.1:p.Lys135Thr, NP_001171577.1:p.Lys135Arg, NP_001382183.1:p.Lys135Thr, NP_001382183.1:p.Lys135Arg, NP_001171578.1:p.Lys135Thr, NP_001171578.1:p.Lys135Arg, NP_001171580.1:p.Lys135Thr, NP_001171580.1:p.Lys135Arg, NP_001171581.1:p.Lys135Thr, NP_001171581.1:p.Lys135Arg, XP_005274803.1:p.Lys135Thr, XP_005274803.1:p.Lys135Arg, XP_016885311.1:p.Lys135Thr, XP_016885311.1:p.Lys135Arg, XP_005274795.1:p.Lys135Thr, XP_005274795.1:p.Lys135Arg, XP_005274798.1:p.Lys135Thr, XP_005274798.1:p.Lys135Arg, XP_005274797.1:p.Lys135Thr, XP_005274797.1:p.Lys135Arg, XP_005274799.1:p.Lys135Thr, XP_005274799.1:p.Lys135Arg, XP_005274801.1:p.Lys135Thr, XP_005274801.1:p.Lys135Arg, XP_005274802.1:p.Lys135Thr, XP_005274802.1:p.Lys135Arg, XP_016885310.1:p.Lys135Thr, XP_016885310.1:p.Lys135Arg, XP_016885312.1:p.Lys135Thr, XP_016885312.1:p.Lys135Arg, XP_016885313.1:p.Lys135Thr, XP_016885313.1:p.Lys135Arg, XP_016885314.1:p.Lys135Thr, XP_016885314.1:p.Lys135Arg, XP_016885315.1:p.Lys135Thr, XP_016885315.1:p.Lys135Arg, XP_016885316.1:p.Lys135Thr, XP_016885316.1:p.Lys135Arg, XP_016885317.1:p.Lys135Thr, XP_016885317.1:p.Lys135Arg, XP_016885318.1:p.Lys135Thr, XP_016885318.1:p.Lys135Arg, XP_016885319.1:p.Lys135Thr, XP_016885319.1:p.Lys135Arg, XP_016885320.1:p.Lys135Thr, XP_016885320.1:p.Lys135Arg, XP_016885321.1:p.Lys135Thr, XP_016885321.1:p.Lys135Arg, XP_016885322.1:p.Lys135Thr, XP_016885322.1:p.Lys135Arg, XP_016885323.1:p.Lys135Thr, XP_016885323.1:p.Lys135Arg, XP_016885324.1:p.Lys135Thr, XP_016885324.1:p.Lys135Arg, XP_011529496.1:p.Lys135Thr, XP_011529496.1:p.Lys135Arg, XP_011529497.1:p.Lys135Thr, XP_011529497.1:p.Lys135Arg, XP_047298448.1:p.Lys135Thr, XP_047298448.1:p.Lys135Arg, XP_047298449.1:p.Lys135Thr, XP_047298449.1:p.Lys135Arg, XP_047298451.1:p.Lys135Thr, XP_047298451.1:p.Lys135Arg, XP_047298453.1:p.Lys135Thr, XP_047298453.1:p.Lys135Arg, XP_047298454.1:p.Lys135Thr, XP_047298454.1:p.Lys135Arg, XP_047298455.1:p.Lys135Thr, XP_047298455.1:p.Lys135Arg, XP_047298456.1:p.Lys135Thr, XP_047298456.1:p.Lys135Arg, XP_047298459.1:p.Lys135Thr, XP_047298459.1:p.Lys135Arg, XP_047298461.1:p.Lys135Thr, XP_047298461.1:p.Lys135Arg, XP_047298460.1:p.Lys135Thr, XP_047298460.1:p.Lys135Arg, XP_047298462.1:p.Lys135Thr, XP_047298462.1:p.Lys135Arg, XP_047298463.1:p.Lys135Thr, XP_047298463.1:p.Lys135Arg, XP_047298464.1:p.Lys135Thr, XP_047298464.1:p.Lys135Arg, XP_047298465.1:p.Lys135Thr, XP_047298465.1:p.Lys135Arg, XP_047298450.1:p.Lys135Thr, XP_047298450.1:p.Lys135Arg, XP_047298447.1:p.Lys135Thr, XP_047298447.1:p.Lys135Arg, XP_047298458.1:p.Lys135Thr, XP_047298458.1:p.Lys135Arg, XP_047298457.1:p.Lys135Thr, XP_047298457.1:p.Lys135Arg, XP_047298444.1:p.Lys135Thr, XP_047298444.1:p.Lys135Arg, XP_047298445.1:p.Lys135Thr, XP_047298445.1:p.Lys135Arg, XP_047298446.1:p.Lys135Thr, XP_047298446.1:p.Lys135Arg, XP_047298452.1:p.Lys135Thr, XP_047298452.1:p.Lys135Arg

    2.

    rs1484067793 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:152963947 (GRCh38)
      X:152132491 (GRCh37)
      Canonical SPDI:
      NC_000023.11:152963946:C:T
      Gene:
      ZNF185 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.00001/1 (GnomAD)
      HGVS:
      NC_000023.11:g.152963947C>T, NW_003871103.3:g.397930C>T, NG_021255.2:g.54506C>T, NM_007150.3:c.1713C>T, NM_001178108.2:c.1716C>T, NM_001178108.1:c.1716C>T, NM_001388432.2:c.1716C>T, NM_001388432.1:c.1716C>T, NM_001178113.2:c.1050C>T, NM_001178113.1:c.1050C>T, NM_001178115.2:c.627C>T, NM_001178115.1:c.627C>T, NM_001178106.1:c.1809C>T, NM_001395254.1:c.1812C>T, NM_001178107.1:c.1722C>T, NM_001178109.1:c.1626C>T, NM_001178110.1:c.1536C>T, NW_025791818.1:g.579137C>T, NC_000023.10:g.152132491C>T, XM_005274746.4:c.1455C>T, XM_005274746.3:c.1455C>T, XM_005274746.2:c.1455C>T, XM_005274746.1:c.1455C>T, XM_017029822.3:c.1944C>T, XM_017029822.2:c.1944C>T, XM_017029822.1:c.1944C>T, XM_005274738.3:c.1713C>T, XM_005274738.2:c.1713C>T, XM_005274738.1:c.1713C>T, XM_005274741.3:c.1626C>T, XM_005274741.2:c.1626C>T, XM_005274741.1:c.1626C>T, XM_005274740.3:c.1626C>T, XM_005274740.2:c.1626C>T, XM_005274740.1:c.1626C>T, XM_005274742.3:c.1623C>T, XM_005274742.2:c.1623C>T, XM_005274742.1:c.1623C>T, XM_005274744.3:c.1539C>T, XM_005274744.2:c.1539C>T, XM_005274744.1:c.1539C>T, XM_005274745.3:c.1536C>T, XM_005274745.2:c.1536C>T, XM_005274745.1:c.1536C>T, XM_017029821.2:c.1944C>T, XM_017029821.1:c.1944C>T, XM_017029823.2:c.1941C>T, XM_017029823.1:c.1941C>T, XM_017029824.2:c.1860C>T, XM_017029824.1:c.1860C>T, XM_017029825.2:c.1857C>T, XM_017029825.1:c.1857C>T, XM_017029826.2:c.1854C>T, XM_017029826.1:c.1854C>T, XM_017029827.2:c.1851C>T, XM_017029827.1:c.1851C>T, XM_017029828.2:c.1848C>T, XM_017029828.1:c.1848C>T, XM_017029829.2:c.1767C>T, XM_017029829.1:c.1767C>T, XM_017029830.2:c.1761C>T, XM_017029830.1:c.1761C>T, XM_017029831.2:c.1758C>T, XM_017029831.1:c.1758C>T, XM_017029832.2:c.1749C>T, XM_017029832.1:c.1749C>T, XM_017029833.2:c.1683C>T, XM_017029833.1:c.1683C>T, XM_017029834.2:c.1671C>T, XM_017029834.1:c.1671C>T, XM_017029835.2:c.1632C>T, XM_017029835.1:c.1632C>T, XM_011531194.2:c.1617C>T, XM_011531194.1:c.1617C>T, XM_011531195.2:c.1614C>T, XM_011531195.1:c.1614C>T, XM_047442488.1:c.1845C>T, XM_047442489.1:c.1755C>T, XM_047442490.1:c.1725C>T, XM_047442491.1:c.1722C>T, XM_047442496.1:c.1626C>T, XM_047442492.1:c.1638C>T, XM_047442493.1:c.1635C>T, XM_047442494.1:c.1632C>T, XM_047442495.1:c.1629C>T, XM_047442497.1:c.1614C>T, XM_047442498.1:c.1545C>T, XM_047442499.1:c.1542C>T, XM_047442500.1:c.1530C>T, XM_047442501.1:c.1518C>T, XM_047442502.1:c.1515C>T, XM_047442503.1:c.1440C>T, XM_047442505.1:c.1437C>T, XM_047442507.1:c.1428C>T, XM_047442508.1:c.1356C>T, XM_047442509.1:c.1341C>T, NM_001178114.1:c.1002C>T, XM_047442506.1:c.1431C>T, XM_047442504.1:c.1437C>T

      3.

      rs1480052016 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        X:152936457 (GRCh38)
        X:152105001 (GRCh37)
        Canonical SPDI:
        NC_000023.11:152936456:C:A,NC_000023.11:152936456:C:G,NC_000023.11:152936456:C:T
        Gene:
        ZNF185 (Varview), LOC105373372 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        HGVS:
        NC_000023.11:g.152936457C>A, NC_000023.11:g.152936457C>G, NC_000023.11:g.152936457C>T, NW_003871103.3:g.370440C>A, NW_003871103.3:g.370440C>G, NW_003871103.3:g.370440C>T, NG_021255.2:g.27016C>A, NG_021255.2:g.27016C>G, NG_021255.2:g.27016C>T, NM_001178106.1:c.1158C>A, NM_001178106.1:c.1158C>G, NM_001178106.1:c.1158C>T, NM_001395254.1:c.1161C>A, NM_001395254.1:c.1161C>G, NM_001395254.1:c.1161C>T, NM_001178107.1:c.1071C>A, NM_001178107.1:c.1071C>G, NM_001178107.1:c.1071C>T, NW_025791818.1:g.551647C>A, NW_025791818.1:g.551647C>G, NW_025791818.1:g.551647C>T, NC_000023.10:g.152105001C>A, NC_000023.10:g.152105001C>G, NC_000023.10:g.152105001C>T, XM_017029822.3:c.1161C>A, XM_017029822.3:c.1161C>G, XM_017029822.3:c.1161C>T, XM_017029822.2:c.1161C>A, XM_017029822.2:c.1161C>G, XM_017029822.2:c.1161C>T, XM_017029822.1:c.1161C>A, XM_017029822.1:c.1161C>G, XM_017029822.1:c.1161C>T, XM_017029821.2:c.1161C>A, XM_017029821.2:c.1161C>G, XM_017029821.2:c.1161C>T, XM_017029821.1:c.1161C>A, XM_017029821.1:c.1161C>G, XM_017029821.1:c.1161C>T, XM_017029823.2:c.1158C>A, XM_017029823.2:c.1158C>G, XM_017029823.2:c.1158C>T, XM_017029823.1:c.1158C>A, XM_017029823.1:c.1158C>G, XM_017029823.1:c.1158C>T, XM_017029824.2:c.1077C>A, XM_017029824.2:c.1077C>G, XM_017029824.2:c.1077C>T, XM_017029824.1:c.1077C>A, XM_017029824.1:c.1077C>G, XM_017029824.1:c.1077C>T, XM_017029825.2:c.1074C>A, XM_017029825.2:c.1074C>G, XM_017029825.2:c.1074C>T, XM_017029825.1:c.1074C>A, XM_017029825.1:c.1074C>G, XM_017029825.1:c.1074C>T, XM_017029826.2:c.1071C>A, XM_017029826.2:c.1071C>G, XM_017029826.2:c.1071C>T, XM_017029826.1:c.1071C>A, XM_017029826.1:c.1071C>G, XM_017029826.1:c.1071C>T, XM_017029827.2:c.1068C>A, XM_017029827.2:c.1068C>G, XM_017029827.2:c.1068C>T, XM_017029827.1:c.1068C>A, XM_017029827.1:c.1068C>G, XM_017029827.1:c.1068C>T, XM_017029829.2:c.984C>A, XM_017029829.2:c.984C>G, XM_017029829.2:c.984C>T, XM_017029829.1:c.984C>A, XM_017029829.1:c.984C>G, XM_017029829.1:c.984C>T, XM_017029833.2:c.900C>A, XM_017029833.2:c.900C>G, XM_017029833.2:c.900C>T, XM_017029833.1:c.900C>A, XM_017029833.1:c.900C>G, XM_017029833.1:c.900C>T, XM_017029835.2:c.981C>A, XM_017029835.2:c.981C>G, XM_017029835.2:c.981C>T, XM_017029835.1:c.981C>A, XM_017029835.1:c.981C>G, XM_017029835.1:c.981C>T, XM_011531195.2:c.1161C>A, XM_011531195.2:c.1161C>G, XM_011531195.2:c.1161C>T, XM_011531195.1:c.1161C>A, XM_011531195.1:c.1161C>G, XM_011531195.1:c.1161C>T, XM_047442490.1:c.1074C>A, XM_047442490.1:c.1074C>G, XM_047442490.1:c.1074C>T, XM_047442491.1:c.1071C>A, XM_047442491.1:c.1071C>G, XM_047442491.1:c.1071C>T, XM_047442492.1:c.987C>A, XM_047442492.1:c.987C>G, XM_047442492.1:c.987C>T, XM_047442493.1:c.984C>A, XM_047442493.1:c.984C>G, XM_047442493.1:c.984C>T, XM_047442504.1:c.984C>A, XM_047442504.1:c.984C>G, XM_047442504.1:c.984C>T, NP_001171577.1:p.Asp386Glu, NP_001171577.1:p.Asp386Glu, NP_001382183.1:p.Asp387Glu, NP_001382183.1:p.Asp387Glu, NP_001171578.1:p.Asp357Glu, NP_001171578.1:p.Asp357Glu, XP_016885311.1:p.Asp387Glu, XP_016885311.1:p.Asp387Glu, XP_016885310.1:p.Asp387Glu, XP_016885310.1:p.Asp387Glu, XP_016885312.1:p.Asp386Glu, XP_016885312.1:p.Asp386Glu, XP_016885313.1:p.Asp359Glu, XP_016885313.1:p.Asp359Glu, XP_016885314.1:p.Asp358Glu, XP_016885314.1:p.Asp358Glu, XP_016885315.1:p.Asp357Glu, XP_016885315.1:p.Asp357Glu, XP_016885316.1:p.Asp356Glu, XP_016885316.1:p.Asp356Glu, XP_016885318.1:p.Asp328Glu, XP_016885318.1:p.Asp328Glu, XP_016885322.1:p.Asp300Glu, XP_016885322.1:p.Asp300Glu, XP_016885324.1:p.Asp327Glu, XP_016885324.1:p.Asp327Glu, XP_011529497.1:p.Asp387Glu, XP_011529497.1:p.Asp387Glu, XP_047298446.1:p.Asp358Glu, XP_047298446.1:p.Asp358Glu, XP_047298447.1:p.Asp357Glu, XP_047298447.1:p.Asp357Glu, XP_047298448.1:p.Asp329Glu, XP_047298448.1:p.Asp329Glu, XP_047298449.1:p.Asp328Glu, XP_047298449.1:p.Asp328Glu, XP_047298460.1:p.Asp328Glu, XP_047298460.1:p.Asp328Glu

        4.

        rs1474265570 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          X:152936439 (GRCh38)
          X:152104983 (GRCh37)
          Canonical SPDI:
          NC_000023.11:152936438:T:G
          Gene:
          ZNF185 (Varview), LOC105373372 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.00001/1 (GnomAD)
          HGVS:
          NC_000023.11:g.152936439T>G, NW_003871103.3:g.370422T>G, NG_021255.2:g.26998T>G, NM_001178106.1:c.1140T>G, NM_001395254.1:c.1143T>G, NM_001178107.1:c.1053T>G, NW_025791818.1:g.551629T>G, NC_000023.10:g.152104983T>G, XM_017029822.3:c.1143T>G, XM_017029822.2:c.1143T>G, XM_017029822.1:c.1143T>G, XM_017029821.2:c.1143T>G, XM_017029821.1:c.1143T>G, XM_017029823.2:c.1140T>G, XM_017029823.1:c.1140T>G, XM_017029824.2:c.1059T>G, XM_017029824.1:c.1059T>G, XM_017029825.2:c.1056T>G, XM_017029825.1:c.1056T>G, XM_017029826.2:c.1053T>G, XM_017029826.1:c.1053T>G, XM_017029827.2:c.1050T>G, XM_017029827.1:c.1050T>G, XM_017029829.2:c.966T>G, XM_017029829.1:c.966T>G, XM_017029833.2:c.882T>G, XM_017029833.1:c.882T>G, XM_017029835.2:c.963T>G, XM_017029835.1:c.963T>G, XM_011531195.2:c.1143T>G, XM_011531195.1:c.1143T>G, XM_047442490.1:c.1056T>G, XM_047442491.1:c.1053T>G, XM_047442492.1:c.969T>G, XM_047442493.1:c.966T>G, XM_047442504.1:c.966T>G, NP_001171577.1:p.Phe380Leu, NP_001382183.1:p.Phe381Leu, NP_001171578.1:p.Phe351Leu, XP_016885311.1:p.Phe381Leu, XP_016885310.1:p.Phe381Leu, XP_016885312.1:p.Phe380Leu, XP_016885313.1:p.Phe353Leu, XP_016885314.1:p.Phe352Leu, XP_016885315.1:p.Phe351Leu, XP_016885316.1:p.Phe350Leu, XP_016885318.1:p.Phe322Leu, XP_016885322.1:p.Phe294Leu, XP_016885324.1:p.Phe321Leu, XP_011529497.1:p.Phe381Leu, XP_047298446.1:p.Phe352Leu, XP_047298447.1:p.Phe351Leu, XP_047298448.1:p.Phe323Leu, XP_047298449.1:p.Phe322Leu, XP_047298460.1:p.Phe322Leu

          5.

          rs1472617001 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CAGGAGAGGCCTGG>-,CAGGAGAGGCCTGGCAGGAGAGGCCTGG [Show Flanks]
            Chromosome:
            X:152945322 (GRCh38)
            X:152113866 (GRCh37)
            Canonical SPDI:
            NC_000023.11:152945309:GGAGAGGCCTGGCAGGAGAGGCCTGG:GGAGAGGCCTGG,NC_000023.11:152945309:GGAGAGGCCTGGCAGGAGAGGCCTGG:GGAGAGGCCTGGCAGGAGAGGCCTGGCAGGAGAGGCCTGG
            Gene:
            ZNF185 (Varview)
            Functional Consequence:
            frameshift_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGAGAGGCCTGGCAGGAGAGGCCTGGCAGGAGAGGCCTGG=0./0 (ALFA)
            GGAGAGGCCTGGCA=0.00001/1 (GnomAD)
            HGVS:
            NC_000023.11:g.152945322_152945335del, NC_000023.11:g.152945322_152945335dup, NW_003871103.3:g.379305_379318del, NW_003871103.3:g.379305_379318dup, NG_021255.2:g.35881_35894del, NG_021255.2:g.35881_35894dup, NM_007150.3:c.1264_1277del, NM_007150.3:c.1264_1277dup, NM_001178108.2:c.1267_1280del, NM_001178108.2:c.1267_1280dup, NM_001178108.1:c.1267_1280del, NM_001178108.1:c.1267_1280dup, NM_001388432.2:c.1267_1280del, NM_001388432.2:c.1267_1280dup, NM_001388432.1:c.1267_1280del, NM_001388432.1:c.1267_1280dup, NM_001178113.2:c.601_614del, NM_001178113.2:c.601_614dup, NM_001178113.1:c.601_614del, NM_001178113.1:c.601_614dup, NM_001178115.2:c.178_191del, NM_001178115.2:c.178_191dup, NM_001178115.1:c.178_191del, NM_001178115.1:c.178_191dup, NM_001178106.1:c.1360_1373del, NM_001178106.1:c.1360_1373dup, NM_001395254.1:c.1363_1376del, NM_001395254.1:c.1363_1376dup, NM_001178107.1:c.1273_1286del, NM_001178107.1:c.1273_1286dup, NM_001178109.1:c.1177_1190del, NM_001178109.1:c.1177_1190dup, NM_001178110.1:c.1087_1100del, NM_001178110.1:c.1087_1100dup, NW_025791818.1:g.560512_560525del, NW_025791818.1:g.560512_560525dup, NC_000023.10:g.152113866_152113879del, NC_000023.10:g.152113866_152113879dup, XM_005274746.4:c.1006_1019del, XM_005274746.4:c.1006_1019dup, XM_005274746.3:c.1006_1019del, XM_005274746.3:c.1006_1019dup, XM_005274746.2:c.1006_1019del, XM_005274746.2:c.1006_1019dup, XM_005274746.1:c.1006_1019del, XM_005274746.1:c.1006_1019dup, XM_017029822.3:c.1363_1376del, XM_017029822.3:c.1363_1376dup, XM_017029822.2:c.1363_1376del, XM_017029822.2:c.1363_1376dup, XM_017029822.1:c.1363_1376del, XM_017029822.1:c.1363_1376dup, XM_005274738.3:c.1264_1277del, XM_005274738.3:c.1264_1277dup, XM_005274738.2:c.1264_1277del, XM_005274738.2:c.1264_1277dup, XM_005274738.1:c.1264_1277del, XM_005274738.1:c.1264_1277dup, XM_005274741.3:c.1177_1190del, XM_005274741.3:c.1177_1190dup, XM_005274741.2:c.1177_1190del, XM_005274741.2:c.1177_1190dup, XM_005274741.1:c.1177_1190del, XM_005274741.1:c.1177_1190dup, XM_005274740.3:c.1177_1190del, XM_005274740.3:c.1177_1190dup, XM_005274740.2:c.1177_1190del, XM_005274740.2:c.1177_1190dup, XM_005274740.1:c.1177_1190del, XM_005274740.1:c.1177_1190dup, XM_005274742.3:c.1174_1187del, XM_005274742.3:c.1174_1187dup, XM_005274742.2:c.1174_1187del, XM_005274742.2:c.1174_1187dup, XM_005274742.1:c.1174_1187del, XM_005274742.1:c.1174_1187dup, XM_005274744.3:c.1090_1103del, XM_005274744.3:c.1090_1103dup, XM_005274744.2:c.1090_1103del, XM_005274744.2:c.1090_1103dup, XM_005274744.1:c.1090_1103del, XM_005274744.1:c.1090_1103dup, XM_005274745.3:c.1087_1100del, XM_005274745.3:c.1087_1100dup, XM_005274745.2:c.1087_1100del, XM_005274745.2:c.1087_1100dup, XM_005274745.1:c.1087_1100del, XM_005274745.1:c.1087_1100dup, XM_017029821.2:c.1363_1376del, XM_017029821.2:c.1363_1376dup, XM_017029821.1:c.1363_1376del, XM_017029821.1:c.1363_1376dup, XM_017029823.2:c.1360_1373del, XM_017029823.2:c.1360_1373dup, XM_017029823.1:c.1360_1373del, XM_017029823.1:c.1360_1373dup, XM_017029824.2:c.1279_1292del, XM_017029824.2:c.1279_1292dup, XM_017029824.1:c.1279_1292del, XM_017029824.1:c.1279_1292dup, XM_017029825.2:c.1276_1289del, XM_017029825.2:c.1276_1289dup, XM_017029825.1:c.1276_1289del, XM_017029825.1:c.1276_1289dup, XM_017029826.2:c.1273_1286del, XM_017029826.2:c.1273_1286dup, XM_017029826.1:c.1273_1286del, XM_017029826.1:c.1273_1286dup, XM_017029827.2:c.1270_1283del, XM_017029827.2:c.1270_1283dup, XM_017029827.1:c.1270_1283del, XM_017029827.1:c.1270_1283dup, XM_017029828.2:c.1267_1280del, XM_017029828.2:c.1267_1280dup, XM_017029828.1:c.1267_1280del, XM_017029828.1:c.1267_1280dup, XM_017029829.2:c.1186_1199del, XM_017029829.2:c.1186_1199dup, XM_017029829.1:c.1186_1199del, XM_017029829.1:c.1186_1199dup, XM_017029830.2:c.1180_1193del, XM_017029830.2:c.1180_1193dup, XM_017029830.1:c.1180_1193del, XM_017029830.1:c.1180_1193dup, XM_017029831.2:c.1177_1190del, XM_017029831.2:c.1177_1190dup, XM_017029831.1:c.1177_1190del, XM_017029831.1:c.1177_1190dup, XM_017029832.2:c.1168_1181del, XM_017029832.2:c.1168_1181dup, XM_017029832.1:c.1168_1181del, XM_017029832.1:c.1168_1181dup, XM_017029833.2:c.1102_1115del, XM_017029833.2:c.1102_1115dup, XM_017029833.1:c.1102_1115del, XM_017029833.1:c.1102_1115dup, XM_017029834.2:c.1090_1103del, XM_017029834.2:c.1090_1103dup, XM_017029834.1:c.1090_1103del, XM_017029834.1:c.1090_1103dup, XM_017029835.2:c.1183_1196del, XM_017029835.2:c.1183_1196dup, XM_017029835.1:c.1183_1196del, XM_017029835.1:c.1183_1196dup, XM_011531194.2:c.1168_1181del, XM_011531194.2:c.1168_1181dup, XM_011531194.1:c.1168_1181del, XM_011531194.1:c.1168_1181dup, XM_011531195.2:c.1363_1376del, XM_011531195.2:c.1363_1376dup, XM_011531195.1:c.1363_1376del, XM_011531195.1:c.1363_1376dup, XM_047442488.1:c.1264_1277del, XM_047442488.1:c.1264_1277dup, XM_047442489.1:c.1174_1187del, XM_047442489.1:c.1174_1187dup, XM_047442490.1:c.1276_1289del, XM_047442490.1:c.1276_1289dup, XM_047442491.1:c.1273_1286del, XM_047442491.1:c.1273_1286dup, XM_047442496.1:c.1177_1190del, XM_047442496.1:c.1177_1190dup, XM_047442492.1:c.1189_1202del, XM_047442492.1:c.1189_1202dup, XM_047442493.1:c.1186_1199del, XM_047442493.1:c.1186_1199dup, XM_047442494.1:c.1183_1196del, XM_047442494.1:c.1183_1196dup, XM_047442495.1:c.1180_1193del, XM_047442495.1:c.1180_1193dup, XM_047442497.1:c.1165_1178del, XM_047442497.1:c.1165_1178dup, XM_047442498.1:c.1096_1109del, XM_047442498.1:c.1096_1109dup, XM_047442499.1:c.1093_1106del, XM_047442499.1:c.1093_1106dup, XM_047442500.1:c.1081_1094del, XM_047442500.1:c.1081_1094dup, XM_047442501.1:c.1267_1280del, XM_047442501.1:c.1267_1280dup, XM_047442502.1:c.1264_1277del, XM_047442502.1:c.1264_1277dup, XM_047442503.1:c.991_1004del, XM_047442503.1:c.991_1004dup, XM_047442505.1:c.988_1001del, XM_047442505.1:c.988_1001dup, XM_047442507.1:c.1177_1190del, XM_047442507.1:c.1177_1190dup, XM_047442508.1:c.907_920del, XM_047442508.1:c.907_920dup, XM_047442509.1:c.1090_1103del, XM_047442509.1:c.1090_1103dup, NM_001178114.1:c.553_566del, NM_001178114.1:c.553_566dup, XM_047442506.1:c.1180_1193del, XM_047442506.1:c.1180_1193dup, XM_047442504.1:c.1186_1199del, XM_047442504.1:c.1186_1199dup, NP_009081.2:p.Gln422fs, NP_009081.2:p.Ala427fs, NP_001171579.1:p.Gln423fs, NP_001171579.1:p.Ala428fs, NP_001375361.1:p.Gln423fs, NP_001375361.1:p.Ala428fs, NP_001171584.1:p.Gln201fs, NP_001171584.1:p.Ala206fs, NP_001171586.1:p.Gln60fs, NP_001171586.1:p.Ala65fs, NP_001171577.1:p.Gln454fs, NP_001171577.1:p.Ala459fs, NP_001382183.1:p.Gln455fs, NP_001382183.1:p.Ala460fs, NP_001171578.1:p.Gln425fs, NP_001171578.1:p.Ala430fs, NP_001171580.1:p.Gln393fs, NP_001171580.1:p.Ala398fs, NP_001171581.1:p.Gln363fs, NP_001171581.1:p.Ala368fs, XP_005274803.1:p.Gln336fs, XP_005274803.1:p.Ala341fs, XP_016885311.1:p.Gln455fs, XP_016885311.1:p.Ala460fs, XP_005274795.1:p.Gln422fs, XP_005274795.1:p.Ala427fs, XP_005274798.1:p.Gln393fs, XP_005274798.1:p.Ala398fs, XP_005274797.1:p.Gln393fs, XP_005274797.1:p.Ala398fs, XP_005274799.1:p.Gln392fs, XP_005274799.1:p.Ala397fs, XP_005274801.1:p.Gln364fs, XP_005274801.1:p.Ala369fs, XP_005274802.1:p.Gln363fs, XP_005274802.1:p.Ala368fs, XP_016885310.1:p.Gln455fs, XP_016885310.1:p.Ala460fs, XP_016885312.1:p.Gln454fs, XP_016885312.1:p.Ala459fs, XP_016885313.1:p.Gln427fs, XP_016885313.1:p.Ala432fs, XP_016885314.1:p.Gln426fs, XP_016885314.1:p.Ala431fs, XP_016885315.1:p.Gln425fs, XP_016885315.1:p.Ala430fs, XP_016885316.1:p.Gln424fs, XP_016885316.1:p.Ala429fs, XP_016885317.1:p.Gln423fs, XP_016885317.1:p.Ala428fs, XP_016885318.1:p.Gln396fs, XP_016885318.1:p.Ala401fs, XP_016885319.1:p.Gln394fs, XP_016885319.1:p.Ala399fs, XP_016885320.1:p.Gln393fs, XP_016885320.1:p.Ala398fs, XP_016885321.1:p.Gln390fs, XP_016885321.1:p.Ala395fs, XP_016885322.1:p.Gln368fs, XP_016885322.1:p.Ala373fs, XP_016885323.1:p.Gln364fs, XP_016885323.1:p.Ala369fs, XP_016885324.1:p.Gln395fs, XP_016885324.1:p.Ala400fs, XP_011529496.1:p.Gln390fs, XP_011529496.1:p.Ala395fs, XP_011529497.1:p.Gln455fs, XP_011529497.1:p.Ala460fs, XP_047298444.1:p.Gln422fs, XP_047298444.1:p.Ala427fs, XP_047298445.1:p.Gln392fs, XP_047298445.1:p.Ala397fs, XP_047298446.1:p.Gln426fs, XP_047298446.1:p.Ala431fs, XP_047298447.1:p.Gln425fs, XP_047298447.1:p.Ala430fs, XP_047298452.1:p.Gln393fs, XP_047298452.1:p.Ala398fs, XP_047298448.1:p.Gln397fs, XP_047298448.1:p.Ala402fs, XP_047298449.1:p.Gln396fs, XP_047298449.1:p.Ala401fs, XP_047298450.1:p.Gln395fs, XP_047298450.1:p.Ala400fs, XP_047298451.1:p.Gln394fs, XP_047298451.1:p.Ala399fs, XP_047298453.1:p.Gln389fs, XP_047298453.1:p.Ala394fs, XP_047298454.1:p.Gln366fs, XP_047298454.1:p.Ala371fs, XP_047298455.1:p.Gln365fs, XP_047298455.1:p.Ala370fs, XP_047298456.1:p.Gln361fs, XP_047298456.1:p.Ala366fs, XP_047298457.1:p.Gln423fs, XP_047298457.1:p.Ala428fs, XP_047298458.1:p.Gln422fs, XP_047298458.1:p.Ala427fs, XP_047298459.1:p.Gln331fs, XP_047298459.1:p.Ala336fs, XP_047298461.1:p.Gln330fs, XP_047298461.1:p.Ala335fs, XP_047298463.1:p.Gln393fs, XP_047298463.1:p.Ala398fs, XP_047298464.1:p.Gln303fs, XP_047298464.1:p.Ala308fs, XP_047298465.1:p.Gln364fs, XP_047298465.1:p.Ala369fs, XP_047298462.1:p.Gln394fs, XP_047298462.1:p.Ala399fs, XP_047298460.1:p.Gln396fs, XP_047298460.1:p.Ala401fs

            6.

            rs1468502861 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:152959813 (GRCh38)
              X:152128357 (GRCh37)
              Canonical SPDI:
              NC_000023.11:152959812:A:G
              Gene:
              ZNF185 (Varview)
              Functional Consequence:
              synonymous_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.00001/1 (GnomAD)
              HGVS:
              NC_000023.11:g.152959813A>G, NW_003871103.3:g.393796A>G, NG_021255.2:g.50372A>G, NM_007150.3:c.1521A>G, NM_001178108.2:c.1524A>G, NM_001178108.1:c.1524A>G, NM_001388432.2:c.1524A>G, NM_001388432.1:c.1524A>G, NM_001178113.2:c.858A>G, NM_001178113.1:c.858A>G, NM_001178115.2:c.435A>G, NM_001178115.1:c.435A>G, NM_001178106.1:c.1617A>G, NM_001395254.1:c.1620A>G, NM_001178107.1:c.1530A>G, NM_001178109.1:c.1434A>G, NM_001178110.1:c.1344A>G, NW_025791818.1:g.575003A>G, NC_000023.10:g.152128357A>G, XM_005274746.4:c.1263A>G, XM_005274746.3:c.1263A>G, XM_005274746.2:c.1263A>G, XM_005274746.1:c.1263A>G, XM_017029822.3:c.1752A>G, XM_017029822.2:c.1752A>G, XM_017029822.1:c.1752A>G, XM_005274738.3:c.1521A>G, XM_005274738.2:c.1521A>G, XM_005274738.1:c.1521A>G, XM_005274741.3:c.1434A>G, XM_005274741.2:c.1434A>G, XM_005274741.1:c.1434A>G, XM_005274740.3:c.1434A>G, XM_005274740.2:c.1434A>G, XM_005274740.1:c.1434A>G, XM_005274742.3:c.1431A>G, XM_005274742.2:c.1431A>G, XM_005274742.1:c.1431A>G, XM_005274744.3:c.1347A>G, XM_005274744.2:c.1347A>G, XM_005274744.1:c.1347A>G, XM_005274745.3:c.1344A>G, XM_005274745.2:c.1344A>G, XM_005274745.1:c.1344A>G, XM_017029821.2:c.1752A>G, XM_017029821.1:c.1752A>G, XM_017029823.2:c.1749A>G, XM_017029823.1:c.1749A>G, XM_017029824.2:c.1668A>G, XM_017029824.1:c.1668A>G, XM_017029825.2:c.1665A>G, XM_017029825.1:c.1665A>G, XM_017029826.2:c.1662A>G, XM_017029826.1:c.1662A>G, XM_017029827.2:c.1659A>G, XM_017029827.1:c.1659A>G, XM_017029828.2:c.1656A>G, XM_017029828.1:c.1656A>G, XM_017029829.2:c.1575A>G, XM_017029829.1:c.1575A>G, XM_017029830.2:c.1569A>G, XM_017029830.1:c.1569A>G, XM_017029831.2:c.1566A>G, XM_017029831.1:c.1566A>G, XM_017029832.2:c.1557A>G, XM_017029832.1:c.1557A>G, XM_017029833.2:c.1491A>G, XM_017029833.1:c.1491A>G, XM_017029834.2:c.1479A>G, XM_017029834.1:c.1479A>G, XM_017029835.2:c.1440A>G, XM_017029835.1:c.1440A>G, XM_011531194.2:c.1425A>G, XM_011531194.1:c.1425A>G, XM_047442488.1:c.1653A>G, XM_047442489.1:c.1563A>G, XM_047442490.1:c.1533A>G, XM_047442491.1:c.1530A>G, XM_047442496.1:c.1434A>G, XM_047442492.1:c.1446A>G, XM_047442493.1:c.1443A>G, XM_047442494.1:c.1440A>G, XM_047442495.1:c.1437A>G, XM_047442497.1:c.1422A>G, XM_047442498.1:c.1353A>G, XM_047442499.1:c.1350A>G, XM_047442500.1:c.1338A>G, XM_047442503.1:c.1248A>G, XM_047442505.1:c.1245A>G, XM_047442508.1:c.1164A>G, NM_001178114.1:c.810A>G

              7.

              rs1467931183 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                X:152970524 (GRCh38)
                X:152139068 (GRCh37)
                Canonical SPDI:
                NC_000023.11:152970523:T:A
                Gene:
                ZNF185 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000023.11:g.152970524T>A, NW_003871103.3:g.404507T>A, NG_021255.2:g.61083T>A, NM_007150.3:c.2053T>A, NM_001178108.2:c.2056T>A, NM_001178108.1:c.2056T>A, NM_001388432.2:c.2056T>A, NM_001388432.1:c.2056T>A, NM_001178113.2:c.1390T>A, NM_001178113.1:c.1390T>A, NM_001178115.2:c.967T>A, NM_001178115.1:c.967T>A, NM_001178106.1:c.2149T>A, NM_001395254.1:c.2152T>A, NM_001178107.1:c.2062T>A, NM_001178109.1:c.1966T>A, NM_001178110.1:c.1876T>A, NW_025791818.1:g.585714T>A, NC_000023.10:g.152139068T>A, XM_005274746.4:c.1795T>A, XM_005274746.3:c.1795T>A, XM_005274746.2:c.1795T>A, XM_005274746.1:c.1795T>A, XM_017029822.3:c.2284T>A, XM_017029822.2:c.2284T>A, XM_017029822.1:c.2284T>A, XM_005274738.3:c.2053T>A, XM_005274738.2:c.2053T>A, XM_005274738.1:c.2053T>A, XM_005274741.3:c.1966T>A, XM_005274741.2:c.1966T>A, XM_005274741.1:c.1966T>A, XM_005274740.3:c.1966T>A, XM_005274740.2:c.1966T>A, XM_005274740.1:c.1966T>A, XM_005274742.3:c.1963T>A, XM_005274742.2:c.1963T>A, XM_005274742.1:c.1963T>A, XM_005274744.3:c.1879T>A, XM_005274744.2:c.1879T>A, XM_005274744.1:c.1879T>A, XM_005274745.3:c.1876T>A, XM_005274745.2:c.1876T>A, XM_005274745.1:c.1876T>A, XM_017029821.2:c.2284T>A, XM_017029821.1:c.2284T>A, XM_017029823.2:c.2281T>A, XM_017029823.1:c.2281T>A, XM_017029824.2:c.2200T>A, XM_017029824.1:c.2200T>A, XM_017029825.2:c.2197T>A, XM_017029825.1:c.2197T>A, XM_017029826.2:c.2194T>A, XM_017029826.1:c.2194T>A, XM_017029827.2:c.2191T>A, XM_017029827.1:c.2191T>A, XM_017029828.2:c.2188T>A, XM_017029828.1:c.2188T>A, XM_017029829.2:c.2107T>A, XM_017029829.1:c.2107T>A, XM_017029830.2:c.2101T>A, XM_017029830.1:c.2101T>A, XM_017029831.2:c.2098T>A, XM_017029831.1:c.2098T>A, XM_017029832.2:c.2089T>A, XM_017029832.1:c.2089T>A, XM_017029833.2:c.2023T>A, XM_017029833.1:c.2023T>A, XM_017029834.2:c.2011T>A, XM_017029834.1:c.2011T>A, XM_017029835.2:c.1972T>A, XM_017029835.1:c.1972T>A, XM_011531194.2:c.1957T>A, XM_011531194.1:c.1957T>A, XM_011531195.2:c.1954T>A, XM_011531195.1:c.1954T>A, XM_047442488.1:c.2185T>A, XM_047442489.1:c.2095T>A, XM_047442490.1:c.2065T>A, XM_047442491.1:c.2062T>A, XM_047442496.1:c.1966T>A, XM_047442492.1:c.1978T>A, XM_047442493.1:c.1975T>A, XM_047442494.1:c.1972T>A, XM_047442495.1:c.1969T>A, XM_047442497.1:c.1954T>A, XM_047442498.1:c.1885T>A, XM_047442499.1:c.1882T>A, XM_047442500.1:c.1870T>A, XM_047442501.1:c.1858T>A, XM_047442502.1:c.1855T>A, XM_047442503.1:c.1780T>A, XM_047442505.1:c.1777T>A, XM_047442507.1:c.1768T>A, XM_047442508.1:c.1696T>A, XM_047442509.1:c.1681T>A, NM_001178114.1:c.1342T>A, XM_047442506.1:c.1771T>A, XM_047442504.1:c.1777T>A, NP_009081.2:p.Tyr685Asn, NP_001171579.1:p.Tyr686Asn, NP_001375361.1:p.Tyr686Asn, NP_001171584.1:p.Tyr464Asn, NP_001171586.1:p.Tyr323Asn, NP_001171577.1:p.Tyr717Asn, NP_001382183.1:p.Tyr718Asn, NP_001171578.1:p.Tyr688Asn, NP_001171580.1:p.Tyr656Asn, NP_001171581.1:p.Tyr626Asn, XP_005274803.1:p.Tyr599Asn, XP_016885311.1:p.Tyr762Asn, XP_005274795.1:p.Tyr685Asn, XP_005274798.1:p.Tyr656Asn, XP_005274797.1:p.Tyr656Asn, XP_005274799.1:p.Tyr655Asn, XP_005274801.1:p.Tyr627Asn, XP_005274802.1:p.Tyr626Asn, XP_016885310.1:p.Tyr762Asn, XP_016885312.1:p.Tyr761Asn, XP_016885313.1:p.Tyr734Asn, XP_016885314.1:p.Tyr733Asn, XP_016885315.1:p.Tyr732Asn, XP_016885316.1:p.Tyr731Asn, XP_016885317.1:p.Tyr730Asn, XP_016885318.1:p.Tyr703Asn, XP_016885319.1:p.Tyr701Asn, XP_016885320.1:p.Tyr700Asn, XP_016885321.1:p.Tyr697Asn, XP_016885322.1:p.Tyr675Asn, XP_016885323.1:p.Tyr671Asn, XP_016885324.1:p.Tyr658Asn, XP_011529496.1:p.Tyr653Asn, XP_011529497.1:p.Tyr652Asn, XP_047298444.1:p.Tyr729Asn, XP_047298445.1:p.Tyr699Asn, XP_047298446.1:p.Tyr689Asn, XP_047298447.1:p.Tyr688Asn, XP_047298452.1:p.Tyr656Asn, XP_047298448.1:p.Tyr660Asn, XP_047298449.1:p.Tyr659Asn, XP_047298450.1:p.Tyr658Asn, XP_047298451.1:p.Tyr657Asn, XP_047298453.1:p.Tyr652Asn, XP_047298454.1:p.Tyr629Asn, XP_047298455.1:p.Tyr628Asn, XP_047298456.1:p.Tyr624Asn, XP_047298457.1:p.Tyr620Asn, XP_047298458.1:p.Tyr619Asn, XP_047298459.1:p.Tyr594Asn, XP_047298461.1:p.Tyr593Asn, XP_047298463.1:p.Tyr590Asn, XP_047298464.1:p.Tyr566Asn, XP_047298465.1:p.Tyr561Asn, XP_047298462.1:p.Tyr591Asn, XP_047298460.1:p.Tyr593Asn

                8.

                rs1467108586 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:152920727 (GRCh38)
                  X:152089271 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:152920726:A:G
                  Gene:
                  ZNF185 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  G=0.00001/1 (GnomAD)
                  HGVS:
                  NC_000023.11:g.152920727A>G, NW_003871103.3:g.354710A>G, NG_021255.2:g.11286A>G, NM_007150.3:c.632A>G, NM_001178108.2:c.635A>G, NM_001178108.1:c.635A>G, NM_001388432.2:c.635A>G, NM_001388432.1:c.635A>G, NM_001178113.2:c.146A>G, NM_001178113.1:c.146A>G, NM_001178106.1:c.632A>G, NM_001395254.1:c.635A>G, NM_001178107.1:c.632A>G, NM_001178109.1:c.632A>G, NM_001178110.1:c.632A>G, NW_025791818.1:g.535917A>G, NC_000023.10:g.152089271A>G, XM_005274746.4:c.551A>G, XM_005274746.3:c.551A>G, XM_005274746.2:c.551A>G, XM_005274746.1:c.551A>G, XM_017029822.3:c.635A>G, XM_017029822.2:c.635A>G, XM_017029822.1:c.635A>G, XM_005274738.3:c.632A>G, XM_005274738.2:c.632A>G, XM_005274738.1:c.632A>G, XM_005274741.3:c.632A>G, XM_005274741.2:c.632A>G, XM_005274741.1:c.632A>G, XM_005274740.3:c.635A>G, XM_005274740.2:c.635A>G, XM_005274740.1:c.635A>G, XM_005274742.3:c.632A>G, XM_005274742.2:c.632A>G, XM_005274742.1:c.632A>G, XM_005274744.3:c.635A>G, XM_005274744.2:c.635A>G, XM_005274744.1:c.635A>G, XM_005274745.3:c.632A>G, XM_005274745.2:c.632A>G, XM_005274745.1:c.632A>G, XM_017029821.2:c.635A>G, XM_017029821.1:c.635A>G, XM_017029823.2:c.632A>G, XM_017029823.1:c.632A>G, XM_017029824.2:c.551A>G, XM_017029824.1:c.551A>G, XM_017029825.2:c.635A>G, XM_017029825.1:c.635A>G, XM_017029826.2:c.635A>G, XM_017029826.1:c.635A>G, XM_017029827.2:c.632A>G, XM_017029827.1:c.632A>G, XM_017029828.2:c.635A>G, XM_017029828.1:c.635A>G, XM_017029829.2:c.635A>G, XM_017029829.1:c.635A>G, XM_017029830.2:c.635A>G, XM_017029830.1:c.635A>G, XM_017029831.2:c.635A>G, XM_017029831.1:c.635A>G, XM_017029832.2:c.635A>G, XM_017029832.1:c.635A>G, XM_017029833.2:c.551A>G, XM_017029833.1:c.551A>G, XM_017029834.2:c.635A>G, XM_017029834.1:c.635A>G, XM_017029835.2:c.632A>G, XM_017029835.1:c.632A>G, XM_011531194.2:c.635A>G, XM_011531194.1:c.635A>G, XM_011531195.2:c.635A>G, XM_011531195.1:c.635A>G, XM_047442492.1:c.551A>G, XM_047442493.1:c.635A>G, XM_047442495.1:c.635A>G, XM_047442497.1:c.632A>G, XM_047442498.1:c.551A>G, XM_047442499.1:c.551A>G, XM_047442500.1:c.635A>G, XM_047442503.1:c.635A>G, XM_047442505.1:c.632A>G, XM_047442504.1:c.635A>G, XM_047442506.1:c.635A>G, XM_047442507.1:c.635A>G, XM_047442508.1:c.551A>G, XM_047442509.1:c.635A>G, NM_001178114.1:c.215A>G, XM_047442494.1:c.551A>G, XM_047442491.1:c.635A>G, XM_047442502.1:c.632A>G, XM_047442501.1:c.635A>G, XM_047442488.1:c.632A>G, XM_047442489.1:c.632A>G, XM_047442490.1:c.635A>G, XM_047442496.1:c.635A>G, NP_009081.2:p.Gln211Arg, NP_001171579.1:p.Gln212Arg, NP_001375361.1:p.Gln212Arg, NP_001171584.1:p.Gln49Arg, NP_001171577.1:p.Gln211Arg, NP_001382183.1:p.Gln212Arg, NP_001171578.1:p.Gln211Arg, NP_001171580.1:p.Gln211Arg, NP_001171581.1:p.Gln211Arg, XP_005274803.1:p.Gln184Arg, XP_016885311.1:p.Gln212Arg, XP_005274795.1:p.Gln211Arg, XP_005274798.1:p.Gln211Arg, XP_005274797.1:p.Gln212Arg, XP_005274799.1:p.Gln211Arg, XP_005274801.1:p.Gln212Arg, XP_005274802.1:p.Gln211Arg, XP_016885310.1:p.Gln212Arg, XP_016885312.1:p.Gln211Arg, XP_016885313.1:p.Gln184Arg, XP_016885314.1:p.Gln212Arg, XP_016885315.1:p.Gln212Arg, XP_016885316.1:p.Gln211Arg, XP_016885317.1:p.Gln212Arg, XP_016885318.1:p.Gln212Arg, XP_016885319.1:p.Gln212Arg, XP_016885320.1:p.Gln212Arg, XP_016885321.1:p.Gln212Arg, XP_016885322.1:p.Gln184Arg, XP_016885323.1:p.Gln212Arg, XP_016885324.1:p.Gln211Arg, XP_011529496.1:p.Gln212Arg, XP_011529497.1:p.Gln212Arg, XP_047298448.1:p.Gln184Arg, XP_047298449.1:p.Gln212Arg, XP_047298451.1:p.Gln212Arg, XP_047298453.1:p.Gln211Arg, XP_047298454.1:p.Gln184Arg, XP_047298455.1:p.Gln184Arg, XP_047298456.1:p.Gln212Arg, XP_047298459.1:p.Gln212Arg, XP_047298461.1:p.Gln211Arg, XP_047298460.1:p.Gln212Arg, XP_047298462.1:p.Gln212Arg, XP_047298463.1:p.Gln212Arg, XP_047298464.1:p.Gln184Arg, XP_047298465.1:p.Gln212Arg, XP_047298450.1:p.Gln184Arg, XP_047298447.1:p.Gln212Arg, XP_047298458.1:p.Gln211Arg, XP_047298457.1:p.Gln212Arg, XP_047298444.1:p.Gln211Arg, XP_047298445.1:p.Gln211Arg, XP_047298446.1:p.Gln212Arg, XP_047298452.1:p.Gln212Arg

                  9.

                  rs1465194201 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:152969392 (GRCh38)
                    X:152137936 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:152969391:G:A
                    Gene:
                    ZNF185 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000023.11:g.152969392G>A, NW_003871103.3:g.403375G>A, NG_021255.2:g.59951G>A, NM_007150.3:c.1879G>A, NM_001178108.2:c.1882G>A, NM_001178108.1:c.1882G>A, NM_001388432.2:c.1882G>A, NM_001388432.1:c.1882G>A, NM_001178113.2:c.1216G>A, NM_001178113.1:c.1216G>A, NM_001178115.2:c.793G>A, NM_001178115.1:c.793G>A, NM_001178106.1:c.1975G>A, NM_001395254.1:c.1978G>A, NM_001178107.1:c.1888G>A, NM_001178109.1:c.1792G>A, NM_001178110.1:c.1702G>A, NW_025791818.1:g.584582G>A, NC_000023.10:g.152137936G>A, XM_005274746.4:c.1621G>A, XM_005274746.3:c.1621G>A, XM_005274746.2:c.1621G>A, XM_005274746.1:c.1621G>A, XM_017029822.3:c.2110G>A, XM_017029822.2:c.2110G>A, XM_017029822.1:c.2110G>A, XM_005274738.3:c.1879G>A, XM_005274738.2:c.1879G>A, XM_005274738.1:c.1879G>A, XM_005274741.3:c.1792G>A, XM_005274741.2:c.1792G>A, XM_005274741.1:c.1792G>A, XM_005274740.3:c.1792G>A, XM_005274740.2:c.1792G>A, XM_005274740.1:c.1792G>A, XM_005274742.3:c.1789G>A, XM_005274742.2:c.1789G>A, XM_005274742.1:c.1789G>A, XM_005274744.3:c.1705G>A, XM_005274744.2:c.1705G>A, XM_005274744.1:c.1705G>A, XM_005274745.3:c.1702G>A, XM_005274745.2:c.1702G>A, XM_005274745.1:c.1702G>A, XM_017029821.2:c.2110G>A, XM_017029821.1:c.2110G>A, XM_017029823.2:c.2107G>A, XM_017029823.1:c.2107G>A, XM_017029824.2:c.2026G>A, XM_017029824.1:c.2026G>A, XM_017029825.2:c.2023G>A, XM_017029825.1:c.2023G>A, XM_017029826.2:c.2020G>A, XM_017029826.1:c.2020G>A, XM_017029827.2:c.2017G>A, XM_017029827.1:c.2017G>A, XM_017029828.2:c.2014G>A, XM_017029828.1:c.2014G>A, XM_017029829.2:c.1933G>A, XM_017029829.1:c.1933G>A, XM_017029830.2:c.1927G>A, XM_017029830.1:c.1927G>A, XM_017029831.2:c.1924G>A, XM_017029831.1:c.1924G>A, XM_017029832.2:c.1915G>A, XM_017029832.1:c.1915G>A, XM_017029833.2:c.1849G>A, XM_017029833.1:c.1849G>A, XM_017029834.2:c.1837G>A, XM_017029834.1:c.1837G>A, XM_017029835.2:c.1798G>A, XM_017029835.1:c.1798G>A, XM_011531194.2:c.1783G>A, XM_011531194.1:c.1783G>A, XM_011531195.2:c.1780G>A, XM_011531195.1:c.1780G>A, XM_047442488.1:c.2011G>A, XM_047442489.1:c.1921G>A, XM_047442490.1:c.1891G>A, XM_047442491.1:c.1888G>A, XM_047442496.1:c.1792G>A, XM_047442492.1:c.1804G>A, XM_047442493.1:c.1801G>A, XM_047442494.1:c.1798G>A, XM_047442495.1:c.1795G>A, XM_047442497.1:c.1780G>A, XM_047442498.1:c.1711G>A, XM_047442499.1:c.1708G>A, XM_047442500.1:c.1696G>A, XM_047442501.1:c.1684G>A, XM_047442502.1:c.1681G>A, XM_047442503.1:c.1606G>A, XM_047442505.1:c.1603G>A, XM_047442507.1:c.1594G>A, XM_047442508.1:c.1522G>A, XM_047442509.1:c.1507G>A, NM_001178114.1:c.1168G>A, XM_047442506.1:c.1597G>A, XM_047442504.1:c.1603G>A, NP_009081.2:p.Gly627Arg, NP_001171579.1:p.Gly628Arg, NP_001375361.1:p.Gly628Arg, NP_001171584.1:p.Gly406Arg, NP_001171586.1:p.Gly265Arg, NP_001171577.1:p.Gly659Arg, NP_001382183.1:p.Gly660Arg, NP_001171578.1:p.Gly630Arg, NP_001171580.1:p.Gly598Arg, NP_001171581.1:p.Gly568Arg, XP_005274803.1:p.Gly541Arg, XP_016885311.1:p.Gly704Arg, XP_005274795.1:p.Gly627Arg, XP_005274798.1:p.Gly598Arg, XP_005274797.1:p.Gly598Arg, XP_005274799.1:p.Gly597Arg, XP_005274801.1:p.Gly569Arg, XP_005274802.1:p.Gly568Arg, XP_016885310.1:p.Gly704Arg, XP_016885312.1:p.Gly703Arg, XP_016885313.1:p.Gly676Arg, XP_016885314.1:p.Gly675Arg, XP_016885315.1:p.Gly674Arg, XP_016885316.1:p.Gly673Arg, XP_016885317.1:p.Gly672Arg, XP_016885318.1:p.Gly645Arg, XP_016885319.1:p.Gly643Arg, XP_016885320.1:p.Gly642Arg, XP_016885321.1:p.Gly639Arg, XP_016885322.1:p.Gly617Arg, XP_016885323.1:p.Gly613Arg, XP_016885324.1:p.Gly600Arg, XP_011529496.1:p.Gly595Arg, XP_011529497.1:p.Gly594Arg, XP_047298444.1:p.Gly671Arg, XP_047298445.1:p.Gly641Arg, XP_047298446.1:p.Gly631Arg, XP_047298447.1:p.Gly630Arg, XP_047298452.1:p.Gly598Arg, XP_047298448.1:p.Gly602Arg, XP_047298449.1:p.Gly601Arg, XP_047298450.1:p.Gly600Arg, XP_047298451.1:p.Gly599Arg, XP_047298453.1:p.Gly594Arg, XP_047298454.1:p.Gly571Arg, XP_047298455.1:p.Gly570Arg, XP_047298456.1:p.Gly566Arg, XP_047298457.1:p.Gly562Arg, XP_047298458.1:p.Gly561Arg, XP_047298459.1:p.Gly536Arg, XP_047298461.1:p.Gly535Arg, XP_047298463.1:p.Gly532Arg, XP_047298464.1:p.Gly508Arg, XP_047298465.1:p.Gly503Arg, XP_047298462.1:p.Gly533Arg, XP_047298460.1:p.Gly535Arg

                    10.

                    rs1463476865 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      X:152938145 (GRCh38)
                      X:152106689 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:152938144:C:A,NC_000023.11:152938144:C:T
                      Gene:
                      ZNF185 (Varview), LOC105373372 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000019/2 (GnomAD)
                      A=0.000019/5 (TOPMED)
                      HGVS:
                      NC_000023.11:g.152938145C>A, NC_000023.11:g.152938145C>T, NW_003871103.3:g.372128C>A, NW_003871103.3:g.372128C>T, NG_021255.2:g.28704C>A, NG_021255.2:g.28704C>T, NM_007150.3:c.1190C>A, NM_007150.3:c.1190C>T, NM_001178108.2:c.1193C>A, NM_001178108.2:c.1193C>T, NM_001178108.1:c.1193C>A, NM_001178108.1:c.1193C>T, NM_001388432.2:c.1193C>A, NM_001388432.2:c.1193C>T, NM_001388432.1:c.1193C>A, NM_001388432.1:c.1193C>T, NM_001178113.2:c.527C>A, NM_001178113.2:c.527C>T, NM_001178113.1:c.527C>A, NM_001178113.1:c.527C>T, NM_001178106.1:c.1286C>A, NM_001178106.1:c.1286C>T, NM_001395254.1:c.1289C>A, NM_001395254.1:c.1289C>T, NM_001178107.1:c.1199C>A, NM_001178107.1:c.1199C>T, NM_001178109.1:c.1103C>A, NM_001178109.1:c.1103C>T, NM_001178110.1:c.1013C>A, NM_001178110.1:c.1013C>T, NW_025791818.1:g.553335C>A, NW_025791818.1:g.553335C>T, NC_000023.10:g.152106689C>A, NC_000023.10:g.152106689C>T, XM_005274746.4:c.932C>A, XM_005274746.4:c.932C>T, XM_005274746.3:c.932C>A, XM_005274746.3:c.932C>T, XM_005274746.2:c.932C>A, XM_005274746.2:c.932C>T, XM_005274746.1:c.932C>A, XM_005274746.1:c.932C>T, XM_017029822.3:c.1289C>A, XM_017029822.3:c.1289C>T, XM_017029822.2:c.1289C>A, XM_017029822.2:c.1289C>T, XM_017029822.1:c.1289C>A, XM_017029822.1:c.1289C>T, XM_005274738.3:c.1190C>A, XM_005274738.3:c.1190C>T, XM_005274738.2:c.1190C>A, XM_005274738.2:c.1190C>T, XM_005274738.1:c.1190C>A, XM_005274738.1:c.1190C>T, XM_005274741.3:c.1103C>A, XM_005274741.3:c.1103C>T, XM_005274741.2:c.1103C>A, XM_005274741.2:c.1103C>T, XM_005274741.1:c.1103C>A, XM_005274741.1:c.1103C>T, XM_005274740.3:c.1103C>A, XM_005274740.3:c.1103C>T, XM_005274740.2:c.1103C>A, XM_005274740.2:c.1103C>T, XM_005274740.1:c.1103C>A, XM_005274740.1:c.1103C>T, XM_005274742.3:c.1100C>A, XM_005274742.3:c.1100C>T, XM_005274742.2:c.1100C>A, XM_005274742.2:c.1100C>T, XM_005274742.1:c.1100C>A, XM_005274742.1:c.1100C>T, XM_005274744.3:c.1016C>A, XM_005274744.3:c.1016C>T, XM_005274744.2:c.1016C>A, XM_005274744.2:c.1016C>T, XM_005274744.1:c.1016C>A, XM_005274744.1:c.1016C>T, XM_005274745.3:c.1013C>A, XM_005274745.3:c.1013C>T, XM_005274745.2:c.1013C>A, XM_005274745.2:c.1013C>T, XM_005274745.1:c.1013C>A, XM_005274745.1:c.1013C>T, XM_017029821.2:c.1289C>A, XM_017029821.2:c.1289C>T, XM_017029821.1:c.1289C>A, XM_017029821.1:c.1289C>T, XM_017029823.2:c.1286C>A, XM_017029823.2:c.1286C>T, XM_017029823.1:c.1286C>A, XM_017029823.1:c.1286C>T, XM_017029824.2:c.1205C>A, XM_017029824.2:c.1205C>T, XM_017029824.1:c.1205C>A, XM_017029824.1:c.1205C>T, XM_017029825.2:c.1202C>A, XM_017029825.2:c.1202C>T, XM_017029825.1:c.1202C>A, XM_017029825.1:c.1202C>T, XM_017029826.2:c.1199C>A, XM_017029826.2:c.1199C>T, XM_017029826.1:c.1199C>A, XM_017029826.1:c.1199C>T, XM_017029827.2:c.1196C>A, XM_017029827.2:c.1196C>T, XM_017029827.1:c.1196C>A, XM_017029827.1:c.1196C>T, XM_017029828.2:c.1193C>A, XM_017029828.2:c.1193C>T, XM_017029828.1:c.1193C>A, XM_017029828.1:c.1193C>T, XM_017029829.2:c.1112C>A, XM_017029829.2:c.1112C>T, XM_017029829.1:c.1112C>A, XM_017029829.1:c.1112C>T, XM_017029830.2:c.1106C>A, XM_017029830.2:c.1106C>T, XM_017029830.1:c.1106C>A, XM_017029830.1:c.1106C>T, XM_017029831.2:c.1103C>A, XM_017029831.2:c.1103C>T, XM_017029831.1:c.1103C>A, XM_017029831.1:c.1103C>T, XM_017029832.2:c.1094C>A, XM_017029832.2:c.1094C>T, XM_017029832.1:c.1094C>A, XM_017029832.1:c.1094C>T, XM_017029833.2:c.1028C>A, XM_017029833.2:c.1028C>T, XM_017029833.1:c.1028C>A, XM_017029833.1:c.1028C>T, XM_017029834.2:c.1016C>A, XM_017029834.2:c.1016C>T, XM_017029834.1:c.1016C>A, XM_017029834.1:c.1016C>T, XM_017029835.2:c.1109C>A, XM_017029835.2:c.1109C>T, XM_017029835.1:c.1109C>A, XM_017029835.1:c.1109C>T, XM_011531194.2:c.1094C>A, XM_011531194.2:c.1094C>T, XM_011531194.1:c.1094C>A, XM_011531194.1:c.1094C>T, XM_011531195.2:c.1289C>A, XM_011531195.2:c.1289C>T, XM_011531195.1:c.1289C>A, XM_011531195.1:c.1289C>T, XM_047442488.1:c.1190C>A, XM_047442488.1:c.1190C>T, XM_047442489.1:c.1100C>A, XM_047442489.1:c.1100C>T, XM_047442490.1:c.1202C>A, XM_047442490.1:c.1202C>T, XM_047442491.1:c.1199C>A, XM_047442491.1:c.1199C>T, XM_047442496.1:c.1103C>A, XM_047442496.1:c.1103C>T, XM_047442492.1:c.1115C>A, XM_047442492.1:c.1115C>T, XM_047442493.1:c.1112C>A, XM_047442493.1:c.1112C>T, XM_047442494.1:c.1109C>A, XM_047442494.1:c.1109C>T, XM_047442495.1:c.1106C>A, XM_047442495.1:c.1106C>T, XM_047442497.1:c.1091C>A, XM_047442497.1:c.1091C>T, XM_047442498.1:c.1022C>A, XM_047442498.1:c.1022C>T, XM_047442499.1:c.1019C>A, XM_047442499.1:c.1019C>T, XM_047442500.1:c.1007C>A, XM_047442500.1:c.1007C>T, XM_047442501.1:c.1193C>A, XM_047442501.1:c.1193C>T, XM_047442502.1:c.1190C>A, XM_047442502.1:c.1190C>T, XM_047442503.1:c.917C>A, XM_047442503.1:c.917C>T, XM_047442505.1:c.914C>A, XM_047442505.1:c.914C>T, XM_047442504.1:c.1112C>A, XM_047442504.1:c.1112C>T, XM_047442507.1:c.1103C>A, XM_047442507.1:c.1103C>T, XM_047442508.1:c.833C>A, XM_047442508.1:c.833C>T, XM_047442509.1:c.1016C>A, XM_047442509.1:c.1016C>T, NM_001178114.1:c.479C>A, NM_001178114.1:c.479C>T, XM_047442506.1:c.1106C>A, XM_047442506.1:c.1106C>T, NP_009081.2:p.Ala397Glu, NP_009081.2:p.Ala397Val, NP_001171579.1:p.Ala398Glu, NP_001171579.1:p.Ala398Val, NP_001375361.1:p.Ala398Glu, NP_001375361.1:p.Ala398Val, NP_001171584.1:p.Ala176Glu, NP_001171584.1:p.Ala176Val, NP_001171577.1:p.Ala429Glu, NP_001171577.1:p.Ala429Val, NP_001382183.1:p.Ala430Glu, NP_001382183.1:p.Ala430Val, NP_001171578.1:p.Ala400Glu, NP_001171578.1:p.Ala400Val, NP_001171580.1:p.Ala368Glu, NP_001171580.1:p.Ala368Val, NP_001171581.1:p.Ala338Glu, NP_001171581.1:p.Ala338Val, XP_005274803.1:p.Ala311Glu, XP_005274803.1:p.Ala311Val, XP_016885311.1:p.Ala430Glu, XP_016885311.1:p.Ala430Val, XP_005274795.1:p.Ala397Glu, XP_005274795.1:p.Ala397Val, XP_005274798.1:p.Ala368Glu, XP_005274798.1:p.Ala368Val, XP_005274797.1:p.Ala368Glu, XP_005274797.1:p.Ala368Val, XP_005274799.1:p.Ala367Glu, XP_005274799.1:p.Ala367Val, XP_005274801.1:p.Ala339Glu, XP_005274801.1:p.Ala339Val, XP_005274802.1:p.Ala338Glu, XP_005274802.1:p.Ala338Val, XP_016885310.1:p.Ala430Glu, XP_016885310.1:p.Ala430Val, XP_016885312.1:p.Ala429Glu, XP_016885312.1:p.Ala429Val, XP_016885313.1:p.Ala402Glu, XP_016885313.1:p.Ala402Val, XP_016885314.1:p.Ala401Glu, XP_016885314.1:p.Ala401Val, XP_016885315.1:p.Ala400Glu, XP_016885315.1:p.Ala400Val, XP_016885316.1:p.Ala399Glu, XP_016885316.1:p.Ala399Val, XP_016885317.1:p.Ala398Glu, XP_016885317.1:p.Ala398Val, XP_016885318.1:p.Ala371Glu, XP_016885318.1:p.Ala371Val, XP_016885319.1:p.Ala369Glu, XP_016885319.1:p.Ala369Val, XP_016885320.1:p.Ala368Glu, XP_016885320.1:p.Ala368Val, XP_016885321.1:p.Ala365Glu, XP_016885321.1:p.Ala365Val, XP_016885322.1:p.Ala343Glu, XP_016885322.1:p.Ala343Val, XP_016885323.1:p.Ala339Glu, XP_016885323.1:p.Ala339Val, XP_016885324.1:p.Ala370Glu, XP_016885324.1:p.Ala370Val, XP_011529496.1:p.Ala365Glu, XP_011529496.1:p.Ala365Val, XP_011529497.1:p.Ala430Glu, XP_011529497.1:p.Ala430Val, XP_047298444.1:p.Ala397Glu, XP_047298444.1:p.Ala397Val, XP_047298445.1:p.Ala367Glu, XP_047298445.1:p.Ala367Val, XP_047298446.1:p.Ala401Glu, XP_047298446.1:p.Ala401Val, XP_047298447.1:p.Ala400Glu, XP_047298447.1:p.Ala400Val, XP_047298452.1:p.Ala368Glu, XP_047298452.1:p.Ala368Val, XP_047298448.1:p.Ala372Glu, XP_047298448.1:p.Ala372Val, XP_047298449.1:p.Ala371Glu, XP_047298449.1:p.Ala371Val, XP_047298450.1:p.Ala370Glu, XP_047298450.1:p.Ala370Val, XP_047298451.1:p.Ala369Glu, XP_047298451.1:p.Ala369Val, XP_047298453.1:p.Ala364Glu, XP_047298453.1:p.Ala364Val, XP_047298454.1:p.Ala341Glu, XP_047298454.1:p.Ala341Val, XP_047298455.1:p.Ala340Glu, XP_047298455.1:p.Ala340Val, XP_047298456.1:p.Ala336Glu, XP_047298456.1:p.Ala336Val, XP_047298457.1:p.Ala398Glu, XP_047298457.1:p.Ala398Val, XP_047298458.1:p.Ala397Glu, XP_047298458.1:p.Ala397Val, XP_047298459.1:p.Ala306Glu, XP_047298459.1:p.Ala306Val, XP_047298461.1:p.Ala305Glu, XP_047298461.1:p.Ala305Val, XP_047298460.1:p.Ala371Glu, XP_047298460.1:p.Ala371Val, XP_047298463.1:p.Ala368Glu, XP_047298463.1:p.Ala368Val, XP_047298464.1:p.Ala278Glu, XP_047298464.1:p.Ala278Val, XP_047298465.1:p.Ala339Glu, XP_047298465.1:p.Ala339Val, XP_047298462.1:p.Ala369Glu, XP_047298462.1:p.Ala369Val

                      11.

                      rs1461344976 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        X:152970463 (GRCh38)
                        X:152139007 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:152970462:G:A,NC_000023.11:152970462:G:C
                        Gene:
                        ZNF185 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000008/2 (TOPMED)
                        C=0.000011/2 (GnomAD_exomes)
                        HGVS:
                        NC_000023.11:g.152970463G>A, NC_000023.11:g.152970463G>C, NW_003871103.3:g.404446G>A, NW_003871103.3:g.404446G>C, NG_021255.2:g.61022G>A, NG_021255.2:g.61022G>C, NM_007150.3:c.1992G>A, NM_007150.3:c.1992G>C, NM_001178108.2:c.1995G>A, NM_001178108.2:c.1995G>C, NM_001178108.1:c.1995G>A, NM_001178108.1:c.1995G>C, NM_001388432.2:c.1995G>A, NM_001388432.2:c.1995G>C, NM_001388432.1:c.1995G>A, NM_001388432.1:c.1995G>C, NM_001178113.2:c.1329G>A, NM_001178113.2:c.1329G>C, NM_001178113.1:c.1329G>A, NM_001178113.1:c.1329G>C, NM_001178115.2:c.906G>A, NM_001178115.2:c.906G>C, NM_001178115.1:c.906G>A, NM_001178115.1:c.906G>C, NM_001178106.1:c.2088G>A, NM_001178106.1:c.2088G>C, NM_001395254.1:c.2091G>A, NM_001395254.1:c.2091G>C, NM_001178107.1:c.2001G>A, NM_001178107.1:c.2001G>C, NM_001178109.1:c.1905G>A, NM_001178109.1:c.1905G>C, NM_001178110.1:c.1815G>A, NM_001178110.1:c.1815G>C, NW_025791818.1:g.585653G>A, NW_025791818.1:g.585653G>C, NC_000023.10:g.152139007G>A, NC_000023.10:g.152139007G>C, XM_005274746.4:c.1734G>A, XM_005274746.4:c.1734G>C, XM_005274746.3:c.1734G>A, XM_005274746.3:c.1734G>C, XM_005274746.2:c.1734G>A, XM_005274746.2:c.1734G>C, XM_005274746.1:c.1734G>A, XM_005274746.1:c.1734G>C, XM_017029822.3:c.2223G>A, XM_017029822.3:c.2223G>C, XM_017029822.2:c.2223G>A, XM_017029822.2:c.2223G>C, XM_017029822.1:c.2223G>A, XM_017029822.1:c.2223G>C, XM_005274738.3:c.1992G>A, XM_005274738.3:c.1992G>C, XM_005274738.2:c.1992G>A, XM_005274738.2:c.1992G>C, XM_005274738.1:c.1992G>A, XM_005274738.1:c.1992G>C, XM_005274741.3:c.1905G>A, XM_005274741.3:c.1905G>C, XM_005274741.2:c.1905G>A, XM_005274741.2:c.1905G>C, XM_005274741.1:c.1905G>A, XM_005274741.1:c.1905G>C, XM_005274740.3:c.1905G>A, XM_005274740.3:c.1905G>C, XM_005274740.2:c.1905G>A, XM_005274740.2:c.1905G>C, XM_005274740.1:c.1905G>A, XM_005274740.1:c.1905G>C, XM_005274742.3:c.1902G>A, XM_005274742.3:c.1902G>C, XM_005274742.2:c.1902G>A, XM_005274742.2:c.1902G>C, XM_005274742.1:c.1902G>A, XM_005274742.1:c.1902G>C, XM_005274744.3:c.1818G>A, XM_005274744.3:c.1818G>C, XM_005274744.2:c.1818G>A, XM_005274744.2:c.1818G>C, XM_005274744.1:c.1818G>A, XM_005274744.1:c.1818G>C, XM_005274745.3:c.1815G>A, XM_005274745.3:c.1815G>C, XM_005274745.2:c.1815G>A, XM_005274745.2:c.1815G>C, XM_005274745.1:c.1815G>A, XM_005274745.1:c.1815G>C, XM_017029821.2:c.2223G>A, XM_017029821.2:c.2223G>C, XM_017029821.1:c.2223G>A, XM_017029821.1:c.2223G>C, XM_017029823.2:c.2220G>A, XM_017029823.2:c.2220G>C, XM_017029823.1:c.2220G>A, XM_017029823.1:c.2220G>C, XM_017029824.2:c.2139G>A, XM_017029824.2:c.2139G>C, XM_017029824.1:c.2139G>A, XM_017029824.1:c.2139G>C, XM_017029825.2:c.2136G>A, XM_017029825.2:c.2136G>C, XM_017029825.1:c.2136G>A, XM_017029825.1:c.2136G>C, XM_017029826.2:c.2133G>A, XM_017029826.2:c.2133G>C, XM_017029826.1:c.2133G>A, XM_017029826.1:c.2133G>C, XM_017029827.2:c.2130G>A, XM_017029827.2:c.2130G>C, XM_017029827.1:c.2130G>A, XM_017029827.1:c.2130G>C, XM_017029828.2:c.2127G>A, XM_017029828.2:c.2127G>C, XM_017029828.1:c.2127G>A, XM_017029828.1:c.2127G>C, XM_017029829.2:c.2046G>A, XM_017029829.2:c.2046G>C, XM_017029829.1:c.2046G>A, XM_017029829.1:c.2046G>C, XM_017029830.2:c.2040G>A, XM_017029830.2:c.2040G>C, XM_017029830.1:c.2040G>A, XM_017029830.1:c.2040G>C, XM_017029831.2:c.2037G>A, XM_017029831.2:c.2037G>C, XM_017029831.1:c.2037G>A, XM_017029831.1:c.2037G>C, XM_017029832.2:c.2028G>A, XM_017029832.2:c.2028G>C, XM_017029832.1:c.2028G>A, XM_017029832.1:c.2028G>C, XM_017029833.2:c.1962G>A, XM_017029833.2:c.1962G>C, XM_017029833.1:c.1962G>A, XM_017029833.1:c.1962G>C, XM_017029834.2:c.1950G>A, XM_017029834.2:c.1950G>C, XM_017029834.1:c.1950G>A, XM_017029834.1:c.1950G>C, XM_017029835.2:c.1911G>A, XM_017029835.2:c.1911G>C, XM_017029835.1:c.1911G>A, XM_017029835.1:c.1911G>C, XM_011531194.2:c.1896G>A, XM_011531194.2:c.1896G>C, XM_011531194.1:c.1896G>A, XM_011531194.1:c.1896G>C, XM_011531195.2:c.1893G>A, XM_011531195.2:c.1893G>C, XM_011531195.1:c.1893G>A, XM_011531195.1:c.1893G>C, XM_047442488.1:c.2124G>A, XM_047442488.1:c.2124G>C, XM_047442489.1:c.2034G>A, XM_047442489.1:c.2034G>C, XM_047442490.1:c.2004G>A, XM_047442490.1:c.2004G>C, XM_047442491.1:c.2001G>A, XM_047442491.1:c.2001G>C, XM_047442496.1:c.1905G>A, XM_047442496.1:c.1905G>C, XM_047442492.1:c.1917G>A, XM_047442492.1:c.1917G>C, XM_047442493.1:c.1914G>A, XM_047442493.1:c.1914G>C, XM_047442494.1:c.1911G>A, XM_047442494.1:c.1911G>C, XM_047442495.1:c.1908G>A, XM_047442495.1:c.1908G>C, XM_047442497.1:c.1893G>A, XM_047442497.1:c.1893G>C, XM_047442498.1:c.1824G>A, XM_047442498.1:c.1824G>C, XM_047442499.1:c.1821G>A, XM_047442499.1:c.1821G>C, XM_047442500.1:c.1809G>A, XM_047442500.1:c.1809G>C, XM_047442501.1:c.1797G>A, XM_047442501.1:c.1797G>C, XM_047442502.1:c.1794G>A, XM_047442502.1:c.1794G>C, XM_047442503.1:c.1719G>A, XM_047442503.1:c.1719G>C, XM_047442505.1:c.1716G>A, XM_047442505.1:c.1716G>C, XM_047442507.1:c.1707G>A, XM_047442507.1:c.1707G>C, XM_047442508.1:c.1635G>A, XM_047442508.1:c.1635G>C, XM_047442509.1:c.1620G>A, XM_047442509.1:c.1620G>C, NM_001178114.1:c.1281G>A, NM_001178114.1:c.1281G>C, XM_047442506.1:c.1710G>A, XM_047442506.1:c.1710G>C, XM_047442504.1:c.1716G>A, XM_047442504.1:c.1716G>C

                        12.

                        rs1459705806 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:152931752 (GRCh38)
                          X:152100296 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:152931751:G:A
                          Gene:
                          ZNF185 (Varview), LOC105373372 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000023.11:g.152931752G>A, NW_003871103.3:g.365735G>A, NG_021255.2:g.22311G>A, NM_007150.3:c.995G>A, NM_001178108.2:c.998G>A, NM_001178108.1:c.998G>A, NM_001388432.2:c.998G>A, NM_001388432.1:c.998G>A, NM_001178113.2:c.332G>A, NM_001178113.1:c.332G>A, NM_001178106.1:c.995G>A, NM_001395254.1:c.998G>A, NM_001178107.1:c.908G>A, NM_001178109.1:c.908G>A, NM_001178110.1:c.818G>A, NW_025791818.1:g.546942G>A, NC_000023.10:g.152100296G>A, XM_005274746.4:c.737G>A, XM_005274746.3:c.737G>A, XM_005274746.2:c.737G>A, XM_005274746.1:c.737G>A, XM_017029822.3:c.998G>A, XM_017029822.2:c.998G>A, XM_017029822.1:c.998G>A, XM_005274738.3:c.995G>A, XM_005274738.2:c.995G>A, XM_005274738.1:c.995G>A, XM_005274741.3:c.908G>A, XM_005274741.2:c.908G>A, XM_005274741.1:c.908G>A, XM_005274740.3:c.908G>A, XM_005274740.2:c.908G>A, XM_005274740.1:c.908G>A, XM_005274742.3:c.905G>A, XM_005274742.2:c.905G>A, XM_005274742.1:c.905G>A, XM_005274744.3:c.821G>A, XM_005274744.2:c.821G>A, XM_005274744.1:c.821G>A, XM_005274745.3:c.818G>A, XM_005274745.2:c.818G>A, XM_005274745.1:c.818G>A, XR_938531.3:n.352C>T, XM_017029821.2:c.998G>A, XM_017029821.1:c.998G>A, XM_017029823.2:c.995G>A, XM_017029823.1:c.995G>A, XM_017029824.2:c.914G>A, XM_017029824.1:c.914G>A, XM_017029825.2:c.911G>A, XM_017029825.1:c.911G>A, XM_017029826.2:c.908G>A, XM_017029826.1:c.908G>A, XM_017029827.2:c.905G>A, XM_017029827.1:c.905G>A, XM_017029828.2:c.998G>A, XM_017029828.1:c.998G>A, XM_017029829.2:c.821G>A, XM_017029829.1:c.821G>A, XM_017029830.2:c.911G>A, XM_017029830.1:c.911G>A, XM_017029831.2:c.908G>A, XM_017029831.1:c.908G>A, XM_017029832.2:c.998G>A, XM_017029832.1:c.998G>A, XM_017029833.2:c.737G>A, XM_017029833.1:c.737G>A, XM_017029834.2:c.821G>A, XM_017029834.1:c.821G>A, XM_017029835.2:c.818G>A, XM_017029835.1:c.818G>A, XM_011531194.2:c.998G>A, XM_011531194.1:c.998G>A, XM_011531195.2:c.998G>A, XM_011531195.1:c.998G>A, XM_047442488.1:c.995G>A, XM_047442489.1:c.905G>A, XM_047442490.1:c.911G>A, XM_047442491.1:c.908G>A, XM_047442496.1:c.908G>A, XM_047442492.1:c.824G>A, XM_047442493.1:c.821G>A, XM_047442494.1:c.914G>A, XM_047442495.1:c.911G>A, XM_047442497.1:c.995G>A, XM_047442498.1:c.827G>A, XM_047442499.1:c.824G>A, XM_047442500.1:c.911G>A, XM_047442501.1:c.998G>A, XM_047442502.1:c.995G>A, XM_047442503.1:c.821G>A, XM_047442505.1:c.818G>A, XM_047442504.1:c.821G>A, XM_047442507.1:c.908G>A, XM_047442508.1:c.737G>A, XM_047442509.1:c.821G>A, XR_007068369.1:n.352C>T, XM_047442506.1:c.911G>A, NP_009081.2:p.Arg332Lys, NP_001171579.1:p.Arg333Lys, NP_001375361.1:p.Arg333Lys, NP_001171584.1:p.Arg111Lys, NP_001171577.1:p.Arg332Lys, NP_001382183.1:p.Arg333Lys, NP_001171578.1:p.Arg303Lys, NP_001171580.1:p.Arg303Lys, NP_001171581.1:p.Arg273Lys, XP_005274803.1:p.Arg246Lys, XP_016885311.1:p.Arg333Lys, XP_005274795.1:p.Arg332Lys, XP_005274798.1:p.Arg303Lys, XP_005274797.1:p.Arg303Lys, XP_005274799.1:p.Arg302Lys, XP_005274801.1:p.Arg274Lys, XP_005274802.1:p.Arg273Lys, XP_016885310.1:p.Arg333Lys, XP_016885312.1:p.Arg332Lys, XP_016885313.1:p.Arg305Lys, XP_016885314.1:p.Arg304Lys, XP_016885315.1:p.Arg303Lys, XP_016885316.1:p.Arg302Lys, XP_016885317.1:p.Arg333Lys, XP_016885318.1:p.Arg274Lys, XP_016885319.1:p.Arg304Lys, XP_016885320.1:p.Arg303Lys, XP_016885321.1:p.Arg333Lys, XP_016885322.1:p.Arg246Lys, XP_016885323.1:p.Arg274Lys, XP_016885324.1:p.Arg273Lys, XP_011529496.1:p.Arg333Lys, XP_011529497.1:p.Arg333Lys, XP_047298444.1:p.Arg332Lys, XP_047298445.1:p.Arg302Lys, XP_047298446.1:p.Arg304Lys, XP_047298447.1:p.Arg303Lys, XP_047298452.1:p.Arg303Lys, XP_047298448.1:p.Arg275Lys, XP_047298449.1:p.Arg274Lys, XP_047298450.1:p.Arg305Lys, XP_047298451.1:p.Arg304Lys, XP_047298453.1:p.Arg332Lys, XP_047298454.1:p.Arg276Lys, XP_047298455.1:p.Arg275Lys, XP_047298456.1:p.Arg304Lys, XP_047298457.1:p.Arg333Lys, XP_047298458.1:p.Arg332Lys, XP_047298459.1:p.Arg274Lys, XP_047298461.1:p.Arg273Lys, XP_047298460.1:p.Arg274Lys, XP_047298463.1:p.Arg303Lys, XP_047298464.1:p.Arg246Lys, XP_047298465.1:p.Arg274Lys, XP_047298462.1:p.Arg304Lys

                          13.

                          rs1458968045 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->AGAACAGC [Show Flanks]
                            Chromosome:
                            X:152959832 (GRCh38)
                            X:152128377 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:152959832:CAGAACAGCAGAACAGC:CAGAACAGCAGAACAGCAGAACAGC
                            Gene:
                            ZNF185 (Varview)
                            Functional Consequence:
                            frameshift_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CAGAACAGCAGAACAGCAGAACAGC=0./0 (ALFA)
                            CAGAACAG=0.000015/4 (TOPMED)
                            CAGAACAG=0.000029/3 (GnomAD)
                            HGVS:
                            NC_000023.11:g.152959834AGAACAGC[3], NW_003871103.3:g.393817AGAACAGC[3], NG_021255.2:g.50393AGAACAGC[3], NM_007150.3:c.1550_1557dup, NM_001178108.2:c.1553_1560dup, NM_001178108.1:c.1553_1560dup, NM_001388432.2:c.1553_1560dup, NM_001388432.1:c.1553_1560dup, NM_001178113.2:c.887_894dup, NM_001178113.1:c.887_894dup, NM_001178115.2:c.464_471dup, NM_001178115.1:c.464_471dup, NM_001178106.1:c.1646_1653dup, NM_001395254.1:c.1649_1656dup, NM_001178107.1:c.1559_1566dup, NM_001178109.1:c.1463_1470dup, NM_001178110.1:c.1373_1380dup, NW_025791818.1:g.575024AGAACAGC[3], NC_000023.10:g.152128378AGAACAGC[3], XM_005274746.4:c.1292_1299dup, XM_005274746.3:c.1292_1299dup, XM_005274746.2:c.1292_1299dup, XM_005274746.1:c.1292_1299dup, XM_017029822.3:c.1781_1788dup, XM_017029822.2:c.1781_1788dup, XM_017029822.1:c.1781_1788dup, XM_005274738.3:c.1550_1557dup, XM_005274738.2:c.1550_1557dup, XM_005274738.1:c.1550_1557dup, XM_005274741.3:c.1463_1470dup, XM_005274741.2:c.1463_1470dup, XM_005274741.1:c.1463_1470dup, XM_005274740.3:c.1463_1470dup, XM_005274740.2:c.1463_1470dup, XM_005274740.1:c.1463_1470dup, XM_005274742.3:c.1460_1467dup, XM_005274742.2:c.1460_1467dup, XM_005274742.1:c.1460_1467dup, XM_005274744.3:c.1376_1383dup, XM_005274744.2:c.1376_1383dup, XM_005274744.1:c.1376_1383dup, XM_005274745.3:c.1373_1380dup, XM_005274745.2:c.1373_1380dup, XM_005274745.1:c.1373_1380dup, XM_017029821.2:c.1781_1788dup, XM_017029821.1:c.1781_1788dup, XM_017029823.2:c.1778_1785dup, XM_017029823.1:c.1778_1785dup, XM_017029824.2:c.1697_1704dup, XM_017029824.1:c.1697_1704dup, XM_017029825.2:c.1694_1701dup, XM_017029825.1:c.1694_1701dup, XM_017029826.2:c.1691_1698dup, XM_017029826.1:c.1691_1698dup, XM_017029827.2:c.1688_1695dup, XM_017029827.1:c.1688_1695dup, XM_017029828.2:c.1685_1692dup, XM_017029828.1:c.1685_1692dup, XM_017029829.2:c.1604_1611dup, XM_017029829.1:c.1604_1611dup, XM_017029830.2:c.1598_1605dup, XM_017029830.1:c.1598_1605dup, XM_017029831.2:c.1595_1602dup, XM_017029831.1:c.1595_1602dup, XM_017029832.2:c.1586_1593dup, XM_017029832.1:c.1586_1593dup, XM_017029833.2:c.1520_1527dup, XM_017029833.1:c.1520_1527dup, XM_017029834.2:c.1508_1515dup, XM_017029834.1:c.1508_1515dup, XM_017029835.2:c.1469_1476dup, XM_017029835.1:c.1469_1476dup, XM_011531194.2:c.1454_1461dup, XM_011531194.1:c.1454_1461dup, XM_047442488.1:c.1682_1689dup, XM_047442489.1:c.1592_1599dup, XM_047442490.1:c.1562_1569dup, XM_047442491.1:c.1559_1566dup, XM_047442496.1:c.1463_1470dup, XM_047442492.1:c.1475_1482dup, XM_047442493.1:c.1472_1479dup, XM_047442494.1:c.1469_1476dup, XM_047442495.1:c.1466_1473dup, XM_047442497.1:c.1451_1458dup, XM_047442498.1:c.1382_1389dup, XM_047442499.1:c.1379_1386dup, XM_047442500.1:c.1367_1374dup, XM_047442503.1:c.1277_1284dup, XM_047442505.1:c.1274_1281dup, XM_047442508.1:c.1193_1200dup, NM_001178114.1:c.839_846dup, NP_009081.2:p.Pro520fs, NP_001171579.1:p.Pro521fs, NP_001375361.1:p.Pro521fs, NP_001171584.1:p.Pro299fs, NP_001171586.1:p.Pro158fs, NP_001171577.1:p.Pro552fs, NP_001382183.1:p.Pro553fs, NP_001171578.1:p.Pro523fs, NP_001171580.1:p.Pro491fs, NP_001171581.1:p.Pro461fs, XP_005274803.1:p.Pro434fs, XP_016885311.1:p.Pro597fs, XP_005274795.1:p.Pro520fs, XP_005274798.1:p.Pro491fs, XP_005274797.1:p.Pro491fs, XP_005274799.1:p.Pro490fs, XP_005274801.1:p.Pro462fs, XP_005274802.1:p.Pro461fs, XP_016885310.1:p.Pro597fs, XP_016885312.1:p.Pro596fs, XP_016885313.1:p.Pro569fs, XP_016885314.1:p.Pro568fs, XP_016885315.1:p.Pro567fs, XP_016885316.1:p.Pro566fs, XP_016885317.1:p.Pro565fs, XP_016885318.1:p.Pro538fs, XP_016885319.1:p.Pro536fs, XP_016885320.1:p.Pro535fs, XP_016885321.1:p.Pro532fs, XP_016885322.1:p.Pro510fs, XP_016885323.1:p.Pro506fs, XP_016885324.1:p.Pro493fs, XP_011529496.1:p.Pro488fs, XP_047298444.1:p.Pro564fs, XP_047298445.1:p.Pro534fs, XP_047298446.1:p.Pro524fs, XP_047298447.1:p.Pro523fs, XP_047298452.1:p.Pro491fs, XP_047298448.1:p.Pro495fs, XP_047298449.1:p.Pro494fs, XP_047298450.1:p.Pro493fs, XP_047298451.1:p.Pro492fs, XP_047298453.1:p.Pro487fs, XP_047298454.1:p.Pro464fs, XP_047298455.1:p.Pro463fs, XP_047298456.1:p.Pro459fs, XP_047298459.1:p.Pro429fs, XP_047298461.1:p.Pro428fs, XP_047298464.1:p.Pro401fs

                            14.

                            rs1455407699 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:152967211 (GRCh38)
                              X:152135755 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:152967210:C:T
                              Gene:
                              ZNF185 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.00001/1 (GnomAD)
                              HGVS:
                              NC_000023.11:g.152967211C>T, NW_003871103.3:g.401194C>T, NG_021255.2:g.57770C>T, NM_007150.3:c.1841C>T, NM_001178108.2:c.1844C>T, NM_001178108.1:c.1844C>T, NM_001388432.2:c.1844C>T, NM_001388432.1:c.1844C>T, NM_001178113.2:c.1178C>T, NM_001178113.1:c.1178C>T, NM_001178115.2:c.755C>T, NM_001178115.1:c.755C>T, NM_001178106.1:c.1937C>T, NM_001395254.1:c.1940C>T, NM_001178107.1:c.1850C>T, NM_001178109.1:c.1754C>T, NM_001178110.1:c.1664C>T, NW_025791818.1:g.582401C>T, NC_000023.10:g.152135755C>T, XM_005274746.4:c.1583C>T, XM_005274746.3:c.1583C>T, XM_005274746.2:c.1583C>T, XM_005274746.1:c.1583C>T, XM_017029822.3:c.2072C>T, XM_017029822.2:c.2072C>T, XM_017029822.1:c.2072C>T, XM_005274738.3:c.1841C>T, XM_005274738.2:c.1841C>T, XM_005274738.1:c.1841C>T, XM_005274741.3:c.1754C>T, XM_005274741.2:c.1754C>T, XM_005274741.1:c.1754C>T, XM_005274740.3:c.1754C>T, XM_005274740.2:c.1754C>T, XM_005274740.1:c.1754C>T, XM_005274742.3:c.1751C>T, XM_005274742.2:c.1751C>T, XM_005274742.1:c.1751C>T, XM_005274744.3:c.1667C>T, XM_005274744.2:c.1667C>T, XM_005274744.1:c.1667C>T, XM_005274745.3:c.1664C>T, XM_005274745.2:c.1664C>T, XM_005274745.1:c.1664C>T, XM_017029821.2:c.2072C>T, XM_017029821.1:c.2072C>T, XM_017029823.2:c.2069C>T, XM_017029823.1:c.2069C>T, XM_017029824.2:c.1988C>T, XM_017029824.1:c.1988C>T, XM_017029825.2:c.1985C>T, XM_017029825.1:c.1985C>T, XM_017029826.2:c.1982C>T, XM_017029826.1:c.1982C>T, XM_017029827.2:c.1979C>T, XM_017029827.1:c.1979C>T, XM_017029828.2:c.1976C>T, XM_017029828.1:c.1976C>T, XM_017029829.2:c.1895C>T, XM_017029829.1:c.1895C>T, XM_017029830.2:c.1889C>T, XM_017029830.1:c.1889C>T, XM_017029831.2:c.1886C>T, XM_017029831.1:c.1886C>T, XM_017029832.2:c.1877C>T, XM_017029832.1:c.1877C>T, XM_017029833.2:c.1811C>T, XM_017029833.1:c.1811C>T, XM_017029834.2:c.1799C>T, XM_017029834.1:c.1799C>T, XM_017029835.2:c.1760C>T, XM_017029835.1:c.1760C>T, XM_011531194.2:c.1745C>T, XM_011531194.1:c.1745C>T, XM_011531195.2:c.1742C>T, XM_011531195.1:c.1742C>T, XM_047442488.1:c.1973C>T, XM_047442489.1:c.1883C>T, XM_047442490.1:c.1853C>T, XM_047442491.1:c.1850C>T, XM_047442496.1:c.1754C>T, XM_047442492.1:c.1766C>T, XM_047442493.1:c.1763C>T, XM_047442494.1:c.1760C>T, XM_047442495.1:c.1757C>T, XM_047442497.1:c.1742C>T, XM_047442498.1:c.1673C>T, XM_047442499.1:c.1670C>T, XM_047442500.1:c.1658C>T, XM_047442501.1:c.1646C>T, XM_047442502.1:c.1643C>T, XM_047442503.1:c.1568C>T, XM_047442505.1:c.1565C>T, XM_047442507.1:c.1556C>T, XM_047442508.1:c.1484C>T, XM_047442509.1:c.1469C>T, NM_001178114.1:c.1130C>T, XM_047442506.1:c.1559C>T, XM_047442504.1:c.1565C>T, NP_009081.2:p.Pro614Leu, NP_001171579.1:p.Pro615Leu, NP_001375361.1:p.Pro615Leu, NP_001171584.1:p.Pro393Leu, NP_001171586.1:p.Pro252Leu, NP_001171577.1:p.Pro646Leu, NP_001382183.1:p.Pro647Leu, NP_001171578.1:p.Pro617Leu, NP_001171580.1:p.Pro585Leu, NP_001171581.1:p.Pro555Leu, XP_005274803.1:p.Pro528Leu, XP_016885311.1:p.Pro691Leu, XP_005274795.1:p.Pro614Leu, XP_005274798.1:p.Pro585Leu, XP_005274797.1:p.Pro585Leu, XP_005274799.1:p.Pro584Leu, XP_005274801.1:p.Pro556Leu, XP_005274802.1:p.Pro555Leu, XP_016885310.1:p.Pro691Leu, XP_016885312.1:p.Pro690Leu, XP_016885313.1:p.Pro663Leu, XP_016885314.1:p.Pro662Leu, XP_016885315.1:p.Pro661Leu, XP_016885316.1:p.Pro660Leu, XP_016885317.1:p.Pro659Leu, XP_016885318.1:p.Pro632Leu, XP_016885319.1:p.Pro630Leu, XP_016885320.1:p.Pro629Leu, XP_016885321.1:p.Pro626Leu, XP_016885322.1:p.Pro604Leu, XP_016885323.1:p.Pro600Leu, XP_016885324.1:p.Pro587Leu, XP_011529496.1:p.Pro582Leu, XP_011529497.1:p.Pro581Leu, XP_047298444.1:p.Pro658Leu, XP_047298445.1:p.Pro628Leu, XP_047298446.1:p.Pro618Leu, XP_047298447.1:p.Pro617Leu, XP_047298452.1:p.Pro585Leu, XP_047298448.1:p.Pro589Leu, XP_047298449.1:p.Pro588Leu, XP_047298450.1:p.Pro587Leu, XP_047298451.1:p.Pro586Leu, XP_047298453.1:p.Pro581Leu, XP_047298454.1:p.Pro558Leu, XP_047298455.1:p.Pro557Leu, XP_047298456.1:p.Pro553Leu, XP_047298457.1:p.Pro549Leu, XP_047298458.1:p.Pro548Leu, XP_047298459.1:p.Pro523Leu, XP_047298461.1:p.Pro522Leu, XP_047298463.1:p.Pro519Leu, XP_047298464.1:p.Pro495Leu, XP_047298465.1:p.Pro490Leu, XP_047298462.1:p.Pro520Leu, XP_047298460.1:p.Pro522Leu

                              15.

                              rs1450750800 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                X:152969470 (GRCh38)
                                X:152138014 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:152969469:G:A,NC_000023.11:152969469:G:T
                                Gene:
                                ZNF185 (Varview)
                                Functional Consequence:
                                stop_gained,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                A=0.000342/1 (KOREAN)
                                HGVS:
                                NC_000023.11:g.152969470G>A, NC_000023.11:g.152969470G>T, NW_003871103.3:g.403453G>A, NW_003871103.3:g.403453G>T, NG_021255.2:g.60029G>A, NG_021255.2:g.60029G>T, NM_007150.3:c.1957G>A, NM_007150.3:c.1957G>T, NM_001178108.2:c.1960G>A, NM_001178108.2:c.1960G>T, NM_001178108.1:c.1960G>A, NM_001178108.1:c.1960G>T, NM_001388432.2:c.1960G>A, NM_001388432.2:c.1960G>T, NM_001388432.1:c.1960G>A, NM_001388432.1:c.1960G>T, NM_001178113.2:c.1294G>A, NM_001178113.2:c.1294G>T, NM_001178113.1:c.1294G>A, NM_001178113.1:c.1294G>T, NM_001178115.2:c.871G>A, NM_001178115.2:c.871G>T, NM_001178115.1:c.871G>A, NM_001178115.1:c.871G>T, NM_001178106.1:c.2053G>A, NM_001178106.1:c.2053G>T, NM_001395254.1:c.2056G>A, NM_001395254.1:c.2056G>T, NM_001178107.1:c.1966G>A, NM_001178107.1:c.1966G>T, NM_001178109.1:c.1870G>A, NM_001178109.1:c.1870G>T, NM_001178110.1:c.1780G>A, NM_001178110.1:c.1780G>T, NW_025791818.1:g.584660G>A, NW_025791818.1:g.584660G>T, NC_000023.10:g.152138014G>A, NC_000023.10:g.152138014G>T, XM_005274746.4:c.1699G>A, XM_005274746.4:c.1699G>T, XM_005274746.3:c.1699G>A, XM_005274746.3:c.1699G>T, XM_005274746.2:c.1699G>A, XM_005274746.2:c.1699G>T, XM_005274746.1:c.1699G>A, XM_005274746.1:c.1699G>T, XM_017029822.3:c.2188G>A, XM_017029822.3:c.2188G>T, XM_017029822.2:c.2188G>A, XM_017029822.2:c.2188G>T, XM_017029822.1:c.2188G>A, XM_017029822.1:c.2188G>T, XM_005274738.3:c.1957G>A, XM_005274738.3:c.1957G>T, XM_005274738.2:c.1957G>A, XM_005274738.2:c.1957G>T, XM_005274738.1:c.1957G>A, XM_005274738.1:c.1957G>T, XM_005274741.3:c.1870G>A, XM_005274741.3:c.1870G>T, XM_005274741.2:c.1870G>A, XM_005274741.2:c.1870G>T, XM_005274741.1:c.1870G>A, XM_005274741.1:c.1870G>T, XM_005274740.3:c.1870G>A, XM_005274740.3:c.1870G>T, XM_005274740.2:c.1870G>A, XM_005274740.2:c.1870G>T, XM_005274740.1:c.1870G>A, XM_005274740.1:c.1870G>T, XM_005274742.3:c.1867G>A, XM_005274742.3:c.1867G>T, XM_005274742.2:c.1867G>A, XM_005274742.2:c.1867G>T, XM_005274742.1:c.1867G>A, XM_005274742.1:c.1867G>T, XM_005274744.3:c.1783G>A, XM_005274744.3:c.1783G>T, XM_005274744.2:c.1783G>A, XM_005274744.2:c.1783G>T, XM_005274744.1:c.1783G>A, XM_005274744.1:c.1783G>T, XM_005274745.3:c.1780G>A, XM_005274745.3:c.1780G>T, XM_005274745.2:c.1780G>A, XM_005274745.2:c.1780G>T, XM_005274745.1:c.1780G>A, XM_005274745.1:c.1780G>T, XM_017029821.2:c.2188G>A, XM_017029821.2:c.2188G>T, XM_017029821.1:c.2188G>A, XM_017029821.1:c.2188G>T, XM_017029823.2:c.2185G>A, XM_017029823.2:c.2185G>T, XM_017029823.1:c.2185G>A, XM_017029823.1:c.2185G>T, XM_017029824.2:c.2104G>A, XM_017029824.2:c.2104G>T, XM_017029824.1:c.2104G>A, XM_017029824.1:c.2104G>T, XM_017029825.2:c.2101G>A, XM_017029825.2:c.2101G>T, XM_017029825.1:c.2101G>A, XM_017029825.1:c.2101G>T, XM_017029826.2:c.2098G>A, XM_017029826.2:c.2098G>T, XM_017029826.1:c.2098G>A, XM_017029826.1:c.2098G>T, XM_017029827.2:c.2095G>A, XM_017029827.2:c.2095G>T, XM_017029827.1:c.2095G>A, XM_017029827.1:c.2095G>T, XM_017029828.2:c.2092G>A, XM_017029828.2:c.2092G>T, XM_017029828.1:c.2092G>A, XM_017029828.1:c.2092G>T, XM_017029829.2:c.2011G>A, XM_017029829.2:c.2011G>T, XM_017029829.1:c.2011G>A, XM_017029829.1:c.2011G>T, XM_017029830.2:c.2005G>A, XM_017029830.2:c.2005G>T, XM_017029830.1:c.2005G>A, XM_017029830.1:c.2005G>T, XM_017029831.2:c.2002G>A, XM_017029831.2:c.2002G>T, XM_017029831.1:c.2002G>A, XM_017029831.1:c.2002G>T, XM_017029832.2:c.1993G>A, XM_017029832.2:c.1993G>T, XM_017029832.1:c.1993G>A, XM_017029832.1:c.1993G>T, XM_017029833.2:c.1927G>A, XM_017029833.2:c.1927G>T, XM_017029833.1:c.1927G>A, XM_017029833.1:c.1927G>T, XM_017029834.2:c.1915G>A, XM_017029834.2:c.1915G>T, XM_017029834.1:c.1915G>A, XM_017029834.1:c.1915G>T, XM_017029835.2:c.1876G>A, XM_017029835.2:c.1876G>T, XM_017029835.1:c.1876G>A, XM_017029835.1:c.1876G>T, XM_011531194.2:c.1861G>A, XM_011531194.2:c.1861G>T, XM_011531194.1:c.1861G>A, XM_011531194.1:c.1861G>T, XM_011531195.2:c.1858G>A, XM_011531195.2:c.1858G>T, XM_011531195.1:c.1858G>A, XM_011531195.1:c.1858G>T, XM_047442488.1:c.2089G>A, XM_047442488.1:c.2089G>T, XM_047442489.1:c.1999G>A, XM_047442489.1:c.1999G>T, XM_047442490.1:c.1969G>A, XM_047442490.1:c.1969G>T, XM_047442491.1:c.1966G>A, XM_047442491.1:c.1966G>T, XM_047442496.1:c.1870G>A, XM_047442496.1:c.1870G>T, XM_047442492.1:c.1882G>A, XM_047442492.1:c.1882G>T, XM_047442493.1:c.1879G>A, XM_047442493.1:c.1879G>T, XM_047442494.1:c.1876G>A, XM_047442494.1:c.1876G>T, XM_047442495.1:c.1873G>A, XM_047442495.1:c.1873G>T, XM_047442497.1:c.1858G>A, XM_047442497.1:c.1858G>T, XM_047442498.1:c.1789G>A, XM_047442498.1:c.1789G>T, XM_047442499.1:c.1786G>A, XM_047442499.1:c.1786G>T, XM_047442500.1:c.1774G>A, XM_047442500.1:c.1774G>T, XM_047442501.1:c.1762G>A, XM_047442501.1:c.1762G>T, XM_047442502.1:c.1759G>A, XM_047442502.1:c.1759G>T, XM_047442503.1:c.1684G>A, XM_047442503.1:c.1684G>T, XM_047442505.1:c.1681G>A, XM_047442505.1:c.1681G>T, XM_047442507.1:c.1672G>A, XM_047442507.1:c.1672G>T, XM_047442508.1:c.1600G>A, XM_047442508.1:c.1600G>T, XM_047442509.1:c.1585G>A, XM_047442509.1:c.1585G>T, NM_001178114.1:c.1246G>A, NM_001178114.1:c.1246G>T, XM_047442506.1:c.1675G>A, XM_047442506.1:c.1675G>T, XM_047442504.1:c.1681G>A, XM_047442504.1:c.1681G>T, NP_009081.2:p.Glu653Lys, NP_009081.2:p.Glu653Ter, NP_001171579.1:p.Glu654Lys, NP_001171579.1:p.Glu654Ter, NP_001375361.1:p.Glu654Lys, NP_001375361.1:p.Glu654Ter, NP_001171584.1:p.Glu432Lys, NP_001171584.1:p.Glu432Ter, NP_001171586.1:p.Glu291Lys, NP_001171586.1:p.Glu291Ter, NP_001171577.1:p.Glu685Lys, NP_001171577.1:p.Glu685Ter, NP_001382183.1:p.Glu686Lys, NP_001382183.1:p.Glu686Ter, NP_001171578.1:p.Glu656Lys, NP_001171578.1:p.Glu656Ter, NP_001171580.1:p.Glu624Lys, NP_001171580.1:p.Glu624Ter, NP_001171581.1:p.Glu594Lys, NP_001171581.1:p.Glu594Ter, XP_005274803.1:p.Glu567Lys, XP_005274803.1:p.Glu567Ter, XP_016885311.1:p.Glu730Lys, XP_016885311.1:p.Glu730Ter, XP_005274795.1:p.Glu653Lys, XP_005274795.1:p.Glu653Ter, XP_005274798.1:p.Glu624Lys, XP_005274798.1:p.Glu624Ter, XP_005274797.1:p.Glu624Lys, XP_005274797.1:p.Glu624Ter, XP_005274799.1:p.Glu623Lys, XP_005274799.1:p.Glu623Ter, XP_005274801.1:p.Glu595Lys, XP_005274801.1:p.Glu595Ter, XP_005274802.1:p.Glu594Lys, XP_005274802.1:p.Glu594Ter, XP_016885310.1:p.Glu730Lys, XP_016885310.1:p.Glu730Ter, XP_016885312.1:p.Glu729Lys, XP_016885312.1:p.Glu729Ter, XP_016885313.1:p.Glu702Lys, XP_016885313.1:p.Glu702Ter, XP_016885314.1:p.Glu701Lys, XP_016885314.1:p.Glu701Ter, XP_016885315.1:p.Glu700Lys, XP_016885315.1:p.Glu700Ter, XP_016885316.1:p.Glu699Lys, XP_016885316.1:p.Glu699Ter, XP_016885317.1:p.Glu698Lys, XP_016885317.1:p.Glu698Ter, XP_016885318.1:p.Glu671Lys, XP_016885318.1:p.Glu671Ter, XP_016885319.1:p.Glu669Lys, XP_016885319.1:p.Glu669Ter, XP_016885320.1:p.Glu668Lys, XP_016885320.1:p.Glu668Ter, XP_016885321.1:p.Glu665Lys, XP_016885321.1:p.Glu665Ter, XP_016885322.1:p.Glu643Lys, XP_016885322.1:p.Glu643Ter, XP_016885323.1:p.Glu639Lys, XP_016885323.1:p.Glu639Ter, XP_016885324.1:p.Glu626Lys, XP_016885324.1:p.Glu626Ter, XP_011529496.1:p.Glu621Lys, XP_011529496.1:p.Glu621Ter, XP_011529497.1:p.Glu620Lys, XP_011529497.1:p.Glu620Ter, XP_047298444.1:p.Glu697Lys, XP_047298444.1:p.Glu697Ter, XP_047298445.1:p.Glu667Lys, XP_047298445.1:p.Glu667Ter, XP_047298446.1:p.Glu657Lys, XP_047298446.1:p.Glu657Ter, XP_047298447.1:p.Glu656Lys, XP_047298447.1:p.Glu656Ter, XP_047298452.1:p.Glu624Lys, XP_047298452.1:p.Glu624Ter, XP_047298448.1:p.Glu628Lys, XP_047298448.1:p.Glu628Ter, XP_047298449.1:p.Glu627Lys, XP_047298449.1:p.Glu627Ter, XP_047298450.1:p.Glu626Lys, XP_047298450.1:p.Glu626Ter, XP_047298451.1:p.Glu625Lys, XP_047298451.1:p.Glu625Ter, XP_047298453.1:p.Glu620Lys, XP_047298453.1:p.Glu620Ter, XP_047298454.1:p.Glu597Lys, XP_047298454.1:p.Glu597Ter, XP_047298455.1:p.Glu596Lys, XP_047298455.1:p.Glu596Ter, XP_047298456.1:p.Glu592Lys, XP_047298456.1:p.Glu592Ter, XP_047298457.1:p.Glu588Lys, XP_047298457.1:p.Glu588Ter, XP_047298458.1:p.Glu587Lys, XP_047298458.1:p.Glu587Ter, XP_047298459.1:p.Glu562Lys, XP_047298459.1:p.Glu562Ter, XP_047298461.1:p.Glu561Lys, XP_047298461.1:p.Glu561Ter, XP_047298463.1:p.Glu558Lys, XP_047298463.1:p.Glu558Ter, XP_047298464.1:p.Glu534Lys, XP_047298464.1:p.Glu534Ter, XP_047298465.1:p.Glu529Lys, XP_047298465.1:p.Glu529Ter, XP_047298462.1:p.Glu559Lys, XP_047298462.1:p.Glu559Ter, XP_047298460.1:p.Glu561Lys, XP_047298460.1:p.Glu561Ter

                                16.

                                rs1448685997 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  X:152963907 (GRCh38)
                                  X:152132451 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:152963906:A:G
                                  Gene:
                                  ZNF185 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.152963907A>G, NW_003871103.3:g.397890A>G, NG_021255.2:g.54466A>G, NM_007150.3:c.1673A>G, NM_001178108.2:c.1676A>G, NM_001178108.1:c.1676A>G, NM_001388432.2:c.1676A>G, NM_001388432.1:c.1676A>G, NM_001178113.2:c.1010A>G, NM_001178113.1:c.1010A>G, NM_001178115.2:c.587A>G, NM_001178115.1:c.587A>G, NM_001178106.1:c.1769A>G, NM_001395254.1:c.1772A>G, NM_001178107.1:c.1682A>G, NM_001178109.1:c.1586A>G, NM_001178110.1:c.1496A>G, NW_025791818.1:g.579097A>G, NC_000023.10:g.152132451A>G, XM_005274746.4:c.1415A>G, XM_005274746.3:c.1415A>G, XM_005274746.2:c.1415A>G, XM_005274746.1:c.1415A>G, XM_017029822.3:c.1904A>G, XM_017029822.2:c.1904A>G, XM_017029822.1:c.1904A>G, XM_005274738.3:c.1673A>G, XM_005274738.2:c.1673A>G, XM_005274738.1:c.1673A>G, XM_005274741.3:c.1586A>G, XM_005274741.2:c.1586A>G, XM_005274741.1:c.1586A>G, XM_005274740.3:c.1586A>G, XM_005274740.2:c.1586A>G, XM_005274740.1:c.1586A>G, XM_005274742.3:c.1583A>G, XM_005274742.2:c.1583A>G, XM_005274742.1:c.1583A>G, XM_005274744.3:c.1499A>G, XM_005274744.2:c.1499A>G, XM_005274744.1:c.1499A>G, XM_005274745.3:c.1496A>G, XM_005274745.2:c.1496A>G, XM_005274745.1:c.1496A>G, XM_017029821.2:c.1904A>G, XM_017029821.1:c.1904A>G, XM_017029823.2:c.1901A>G, XM_017029823.1:c.1901A>G, XM_017029824.2:c.1820A>G, XM_017029824.1:c.1820A>G, XM_017029825.2:c.1817A>G, XM_017029825.1:c.1817A>G, XM_017029826.2:c.1814A>G, XM_017029826.1:c.1814A>G, XM_017029827.2:c.1811A>G, XM_017029827.1:c.1811A>G, XM_017029828.2:c.1808A>G, XM_017029828.1:c.1808A>G, XM_017029829.2:c.1727A>G, XM_017029829.1:c.1727A>G, XM_017029830.2:c.1721A>G, XM_017029830.1:c.1721A>G, XM_017029831.2:c.1718A>G, XM_017029831.1:c.1718A>G, XM_017029832.2:c.1709A>G, XM_017029832.1:c.1709A>G, XM_017029833.2:c.1643A>G, XM_017029833.1:c.1643A>G, XM_017029834.2:c.1631A>G, XM_017029834.1:c.1631A>G, XM_017029835.2:c.1592A>G, XM_017029835.1:c.1592A>G, XM_011531194.2:c.1577A>G, XM_011531194.1:c.1577A>G, XM_011531195.2:c.1574A>G, XM_011531195.1:c.1574A>G, XM_047442488.1:c.1805A>G, XM_047442489.1:c.1715A>G, XM_047442490.1:c.1685A>G, XM_047442491.1:c.1682A>G, XM_047442496.1:c.1586A>G, XM_047442492.1:c.1598A>G, XM_047442493.1:c.1595A>G, XM_047442494.1:c.1592A>G, XM_047442495.1:c.1589A>G, XM_047442497.1:c.1574A>G, XM_047442498.1:c.1505A>G, XM_047442499.1:c.1502A>G, XM_047442500.1:c.1490A>G, XM_047442501.1:c.1478A>G, XM_047442502.1:c.1475A>G, XM_047442503.1:c.1400A>G, XM_047442505.1:c.1397A>G, XM_047442507.1:c.1388A>G, XM_047442508.1:c.1316A>G, XM_047442509.1:c.1301A>G, NM_001178114.1:c.962A>G, XM_047442506.1:c.1391A>G, XM_047442504.1:c.1397A>G, NP_009081.2:p.Tyr558Cys, NP_001171579.1:p.Tyr559Cys, NP_001375361.1:p.Tyr559Cys, NP_001171584.1:p.Tyr337Cys, NP_001171586.1:p.Tyr196Cys, NP_001171577.1:p.Tyr590Cys, NP_001382183.1:p.Tyr591Cys, NP_001171578.1:p.Tyr561Cys, NP_001171580.1:p.Tyr529Cys, NP_001171581.1:p.Tyr499Cys, XP_005274803.1:p.Tyr472Cys, XP_016885311.1:p.Tyr635Cys, XP_005274795.1:p.Tyr558Cys, XP_005274798.1:p.Tyr529Cys, XP_005274797.1:p.Tyr529Cys, XP_005274799.1:p.Tyr528Cys, XP_005274801.1:p.Tyr500Cys, XP_005274802.1:p.Tyr499Cys, XP_016885310.1:p.Tyr635Cys, XP_016885312.1:p.Tyr634Cys, XP_016885313.1:p.Tyr607Cys, XP_016885314.1:p.Tyr606Cys, XP_016885315.1:p.Tyr605Cys, XP_016885316.1:p.Tyr604Cys, XP_016885317.1:p.Tyr603Cys, XP_016885318.1:p.Tyr576Cys, XP_016885319.1:p.Tyr574Cys, XP_016885320.1:p.Tyr573Cys, XP_016885321.1:p.Tyr570Cys, XP_016885322.1:p.Tyr548Cys, XP_016885323.1:p.Tyr544Cys, XP_016885324.1:p.Tyr531Cys, XP_011529496.1:p.Tyr526Cys, XP_011529497.1:p.Tyr525Cys, XP_047298444.1:p.Tyr602Cys, XP_047298445.1:p.Tyr572Cys, XP_047298446.1:p.Tyr562Cys, XP_047298447.1:p.Tyr561Cys, XP_047298452.1:p.Tyr529Cys, XP_047298448.1:p.Tyr533Cys, XP_047298449.1:p.Tyr532Cys, XP_047298450.1:p.Tyr531Cys, XP_047298451.1:p.Tyr530Cys, XP_047298453.1:p.Tyr525Cys, XP_047298454.1:p.Tyr502Cys, XP_047298455.1:p.Tyr501Cys, XP_047298456.1:p.Tyr497Cys, XP_047298457.1:p.Tyr493Cys, XP_047298458.1:p.Tyr492Cys, XP_047298459.1:p.Tyr467Cys, XP_047298461.1:p.Tyr466Cys, XP_047298463.1:p.Tyr463Cys, XP_047298464.1:p.Tyr439Cys, XP_047298465.1:p.Tyr434Cys, XP_047298462.1:p.Tyr464Cys, XP_047298460.1:p.Tyr466Cys

                                  17.

                                  rs1446966874 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    X:152917303 (GRCh38)
                                    X:152085847 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:152917302:C:G
                                    Gene:
                                    ZNF185 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.00001/1 (GnomAD)
                                    HGVS:
                                    NC_000023.11:g.152917303C>G, NW_003871103.3:g.351286C>G, NG_021255.2:g.7862C>G, NM_007150.3:c.282C>G, NM_001178108.2:c.282C>G, NM_001178108.1:c.282C>G, NM_001388432.2:c.282C>G, NM_001388432.1:c.282C>G, NM_001178106.1:c.282C>G, NM_001395254.1:c.282C>G, NM_001178107.1:c.282C>G, NM_001178109.1:c.282C>G, NM_001178110.1:c.282C>G, NW_025791818.1:g.532493C>G, NC_000023.10:g.152085847C>G, XM_005274746.4:c.282C>G, XM_005274746.3:c.282C>G, XM_005274746.2:c.282C>G, XM_005274746.1:c.282C>G, XM_017029822.3:c.282C>G, XM_017029822.2:c.282C>G, XM_017029822.1:c.282C>G, XM_005274738.3:c.282C>G, XM_005274738.2:c.282C>G, XM_005274738.1:c.282C>G, XM_005274741.3:c.282C>G, XM_005274741.2:c.282C>G, XM_005274741.1:c.282C>G, XM_005274740.3:c.282C>G, XM_005274740.2:c.282C>G, XM_005274740.1:c.282C>G, XM_005274742.3:c.282C>G, XM_005274742.2:c.282C>G, XM_005274742.1:c.282C>G, XM_005274744.3:c.282C>G, XM_005274744.2:c.282C>G, XM_005274744.1:c.282C>G, XM_005274745.3:c.282C>G, XM_005274745.2:c.282C>G, XM_005274745.1:c.282C>G, XM_017029821.2:c.282C>G, XM_017029821.1:c.282C>G, XM_017029823.2:c.282C>G, XM_017029823.1:c.282C>G, XM_017029824.2:c.282C>G, XM_017029824.1:c.282C>G, XM_017029825.2:c.282C>G, XM_017029825.1:c.282C>G, XM_017029826.2:c.282C>G, XM_017029826.1:c.282C>G, XM_017029827.2:c.282C>G, XM_017029827.1:c.282C>G, XM_017029828.2:c.282C>G, XM_017029828.1:c.282C>G, XM_017029829.2:c.282C>G, XM_017029829.1:c.282C>G, XM_017029830.2:c.282C>G, XM_017029830.1:c.282C>G, XM_017029831.2:c.282C>G, XM_017029831.1:c.282C>G, XM_017029832.2:c.282C>G, XM_017029832.1:c.282C>G, XM_017029833.2:c.282C>G, XM_017029833.1:c.282C>G, XM_017029834.2:c.282C>G, XM_017029834.1:c.282C>G, XM_017029835.2:c.282C>G, XM_017029835.1:c.282C>G, XM_011531194.2:c.282C>G, XM_011531194.1:c.282C>G, XM_011531195.2:c.282C>G, XM_011531195.1:c.282C>G, XM_047442491.1:c.282C>G, XM_047442496.1:c.282C>G, XM_047442493.1:c.282C>G, XM_047442494.1:c.282C>G, XM_047442495.1:c.282C>G, XM_047442497.1:c.282C>G, XM_047442498.1:c.282C>G, XM_047442501.1:c.282C>G, XM_047442502.1:c.282C>G, XM_047442505.1:c.282C>G, XM_047442504.1:c.282C>G, XM_047442506.1:c.282C>G, XM_047442507.1:c.282C>G, XM_047442508.1:c.282C>G, XM_047442509.1:c.282C>G, XM_047442503.1:c.282C>G, XM_047442492.1:c.282C>G, XM_047442489.1:c.282C>G, XM_047442500.1:c.282C>G, XM_047442499.1:c.282C>G, XM_047442490.1:c.282C>G, XM_047442488.1:c.282C>G

                                    18.

                                    rs1444326967 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:152917169 (GRCh38)
                                      X:152085713 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:152917168:G:A
                                      Gene:
                                      ZNF185 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.00001/1 (GnomAD)
                                      HGVS:
                                      NC_000023.11:g.152917169G>A, NW_003871103.3:g.351152G>A, NG_021255.2:g.7728G>A, NM_007150.3:c.263G>A, NM_001178108.2:c.263G>A, NM_001178108.1:c.263G>A, NM_001388432.2:c.263G>A, NM_001388432.1:c.263G>A, NM_001178106.1:c.263G>A, NM_001395254.1:c.263G>A, NM_001178107.1:c.263G>A, NM_001178109.1:c.263G>A, NM_001178110.1:c.263G>A, NW_025791818.1:g.532359G>A, NC_000023.10:g.152085713G>A, XM_005274746.4:c.263G>A, XM_005274746.3:c.263G>A, XM_005274746.2:c.263G>A, XM_005274746.1:c.263G>A, XM_017029822.3:c.263G>A, XM_017029822.2:c.263G>A, XM_017029822.1:c.263G>A, XM_005274738.3:c.263G>A, XM_005274738.2:c.263G>A, XM_005274738.1:c.263G>A, XM_005274741.3:c.263G>A, XM_005274741.2:c.263G>A, XM_005274741.1:c.263G>A, XM_005274740.3:c.263G>A, XM_005274740.2:c.263G>A, XM_005274740.1:c.263G>A, XM_005274742.3:c.263G>A, XM_005274742.2:c.263G>A, XM_005274742.1:c.263G>A, XM_005274744.3:c.263G>A, XM_005274744.2:c.263G>A, XM_005274744.1:c.263G>A, XM_005274745.3:c.263G>A, XM_005274745.2:c.263G>A, XM_005274745.1:c.263G>A, XM_017029821.2:c.263G>A, XM_017029821.1:c.263G>A, XM_017029823.2:c.263G>A, XM_017029823.1:c.263G>A, XM_017029824.2:c.263G>A, XM_017029824.1:c.263G>A, XM_017029825.2:c.263G>A, XM_017029825.1:c.263G>A, XM_017029826.2:c.263G>A, XM_017029826.1:c.263G>A, XM_017029827.2:c.263G>A, XM_017029827.1:c.263G>A, XM_017029828.2:c.263G>A, XM_017029828.1:c.263G>A, XM_017029829.2:c.263G>A, XM_017029829.1:c.263G>A, XM_017029830.2:c.263G>A, XM_017029830.1:c.263G>A, XM_017029831.2:c.263G>A, XM_017029831.1:c.263G>A, XM_017029832.2:c.263G>A, XM_017029832.1:c.263G>A, XM_017029833.2:c.263G>A, XM_017029833.1:c.263G>A, XM_017029834.2:c.263G>A, XM_017029834.1:c.263G>A, XM_017029835.2:c.263G>A, XM_017029835.1:c.263G>A, XM_011531194.2:c.263G>A, XM_011531194.1:c.263G>A, XM_011531195.2:c.263G>A, XM_011531195.1:c.263G>A, XM_047442491.1:c.263G>A, XM_047442496.1:c.263G>A, XM_047442493.1:c.263G>A, XM_047442494.1:c.263G>A, XM_047442495.1:c.263G>A, XM_047442497.1:c.263G>A, XM_047442498.1:c.263G>A, XM_047442501.1:c.263G>A, XM_047442502.1:c.263G>A, XM_047442505.1:c.263G>A, XM_047442504.1:c.263G>A, XM_047442506.1:c.263G>A, XM_047442507.1:c.263G>A, XM_047442508.1:c.263G>A, XM_047442509.1:c.263G>A, XM_047442503.1:c.263G>A, XM_047442492.1:c.263G>A, XM_047442489.1:c.263G>A, XM_047442500.1:c.263G>A, XM_047442499.1:c.263G>A, XM_047442490.1:c.263G>A, XM_047442488.1:c.263G>A, NP_009081.2:p.Arg88Gln, NP_001171579.1:p.Arg88Gln, NP_001375361.1:p.Arg88Gln, NP_001171577.1:p.Arg88Gln, NP_001382183.1:p.Arg88Gln, NP_001171578.1:p.Arg88Gln, NP_001171580.1:p.Arg88Gln, NP_001171581.1:p.Arg88Gln, XP_005274803.1:p.Arg88Gln, XP_016885311.1:p.Arg88Gln, XP_005274795.1:p.Arg88Gln, XP_005274798.1:p.Arg88Gln, XP_005274797.1:p.Arg88Gln, XP_005274799.1:p.Arg88Gln, XP_005274801.1:p.Arg88Gln, XP_005274802.1:p.Arg88Gln, XP_016885310.1:p.Arg88Gln, XP_016885312.1:p.Arg88Gln, XP_016885313.1:p.Arg88Gln, XP_016885314.1:p.Arg88Gln, XP_016885315.1:p.Arg88Gln, XP_016885316.1:p.Arg88Gln, XP_016885317.1:p.Arg88Gln, XP_016885318.1:p.Arg88Gln, XP_016885319.1:p.Arg88Gln, XP_016885320.1:p.Arg88Gln, XP_016885321.1:p.Arg88Gln, XP_016885322.1:p.Arg88Gln, XP_016885323.1:p.Arg88Gln, XP_016885324.1:p.Arg88Gln, XP_011529496.1:p.Arg88Gln, XP_011529497.1:p.Arg88Gln, XP_047298447.1:p.Arg88Gln, XP_047298452.1:p.Arg88Gln, XP_047298449.1:p.Arg88Gln, XP_047298450.1:p.Arg88Gln, XP_047298451.1:p.Arg88Gln, XP_047298453.1:p.Arg88Gln, XP_047298454.1:p.Arg88Gln, XP_047298457.1:p.Arg88Gln, XP_047298458.1:p.Arg88Gln, XP_047298461.1:p.Arg88Gln, XP_047298460.1:p.Arg88Gln, XP_047298462.1:p.Arg88Gln, XP_047298463.1:p.Arg88Gln, XP_047298464.1:p.Arg88Gln, XP_047298465.1:p.Arg88Gln, XP_047298459.1:p.Arg88Gln, XP_047298448.1:p.Arg88Gln, XP_047298445.1:p.Arg88Gln, XP_047298456.1:p.Arg88Gln, XP_047298455.1:p.Arg88Gln, XP_047298446.1:p.Arg88Gln, XP_047298444.1:p.Arg88Gln

                                      19.

                                      rs1443708331 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:152917154 (GRCh38)
                                        X:152085698 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:152917153:C:T
                                        Gene:
                                        ZNF185 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        NC_000023.11:g.152917154C>T, NW_003871103.3:g.351137C>T, NG_021255.2:g.7713C>T, NM_007150.3:c.248C>T, NM_001178108.2:c.248C>T, NM_001178108.1:c.248C>T, NM_001388432.2:c.248C>T, NM_001388432.1:c.248C>T, NM_001178106.1:c.248C>T, NM_001395254.1:c.248C>T, NM_001178107.1:c.248C>T, NM_001178109.1:c.248C>T, NM_001178110.1:c.248C>T, NW_025791818.1:g.532344C>T, NC_000023.10:g.152085698C>T, XM_005274746.4:c.248C>T, XM_005274746.3:c.248C>T, XM_005274746.2:c.248C>T, XM_005274746.1:c.248C>T, XM_017029822.3:c.248C>T, XM_017029822.2:c.248C>T, XM_017029822.1:c.248C>T, XM_005274738.3:c.248C>T, XM_005274738.2:c.248C>T, XM_005274738.1:c.248C>T, XM_005274741.3:c.248C>T, XM_005274741.2:c.248C>T, XM_005274741.1:c.248C>T, XM_005274740.3:c.248C>T, XM_005274740.2:c.248C>T, XM_005274740.1:c.248C>T, XM_005274742.3:c.248C>T, XM_005274742.2:c.248C>T, XM_005274742.1:c.248C>T, XM_005274744.3:c.248C>T, XM_005274744.2:c.248C>T, XM_005274744.1:c.248C>T, XM_005274745.3:c.248C>T, XM_005274745.2:c.248C>T, XM_005274745.1:c.248C>T, XM_017029821.2:c.248C>T, XM_017029821.1:c.248C>T, XM_017029823.2:c.248C>T, XM_017029823.1:c.248C>T, XM_017029824.2:c.248C>T, XM_017029824.1:c.248C>T, XM_017029825.2:c.248C>T, XM_017029825.1:c.248C>T, XM_017029826.2:c.248C>T, XM_017029826.1:c.248C>T, XM_017029827.2:c.248C>T, XM_017029827.1:c.248C>T, XM_017029828.2:c.248C>T, XM_017029828.1:c.248C>T, XM_017029829.2:c.248C>T, XM_017029829.1:c.248C>T, XM_017029830.2:c.248C>T, XM_017029830.1:c.248C>T, XM_017029831.2:c.248C>T, XM_017029831.1:c.248C>T, XM_017029832.2:c.248C>T, XM_017029832.1:c.248C>T, XM_017029833.2:c.248C>T, XM_017029833.1:c.248C>T, XM_017029834.2:c.248C>T, XM_017029834.1:c.248C>T, XM_017029835.2:c.248C>T, XM_017029835.1:c.248C>T, XM_011531194.2:c.248C>T, XM_011531194.1:c.248C>T, XM_011531195.2:c.248C>T, XM_011531195.1:c.248C>T, XM_047442491.1:c.248C>T, XM_047442496.1:c.248C>T, XM_047442493.1:c.248C>T, XM_047442494.1:c.248C>T, XM_047442495.1:c.248C>T, XM_047442497.1:c.248C>T, XM_047442498.1:c.248C>T, XM_047442501.1:c.248C>T, XM_047442502.1:c.248C>T, XM_047442505.1:c.248C>T, XM_047442504.1:c.248C>T, XM_047442506.1:c.248C>T, XM_047442507.1:c.248C>T, XM_047442508.1:c.248C>T, XM_047442509.1:c.248C>T, XM_047442503.1:c.248C>T, XM_047442492.1:c.248C>T, XM_047442489.1:c.248C>T, XM_047442500.1:c.248C>T, XM_047442499.1:c.248C>T, XM_047442490.1:c.248C>T, XM_047442488.1:c.248C>T, NP_009081.2:p.Thr83Ile, NP_001171579.1:p.Thr83Ile, NP_001375361.1:p.Thr83Ile, NP_001171577.1:p.Thr83Ile, NP_001382183.1:p.Thr83Ile, NP_001171578.1:p.Thr83Ile, NP_001171580.1:p.Thr83Ile, NP_001171581.1:p.Thr83Ile, XP_005274803.1:p.Thr83Ile, XP_016885311.1:p.Thr83Ile, XP_005274795.1:p.Thr83Ile, XP_005274798.1:p.Thr83Ile, XP_005274797.1:p.Thr83Ile, XP_005274799.1:p.Thr83Ile, XP_005274801.1:p.Thr83Ile, XP_005274802.1:p.Thr83Ile, XP_016885310.1:p.Thr83Ile, XP_016885312.1:p.Thr83Ile, XP_016885313.1:p.Thr83Ile, XP_016885314.1:p.Thr83Ile, XP_016885315.1:p.Thr83Ile, XP_016885316.1:p.Thr83Ile, XP_016885317.1:p.Thr83Ile, XP_016885318.1:p.Thr83Ile, XP_016885319.1:p.Thr83Ile, XP_016885320.1:p.Thr83Ile, XP_016885321.1:p.Thr83Ile, XP_016885322.1:p.Thr83Ile, XP_016885323.1:p.Thr83Ile, XP_016885324.1:p.Thr83Ile, XP_011529496.1:p.Thr83Ile, XP_011529497.1:p.Thr83Ile, XP_047298447.1:p.Thr83Ile, XP_047298452.1:p.Thr83Ile, XP_047298449.1:p.Thr83Ile, XP_047298450.1:p.Thr83Ile, XP_047298451.1:p.Thr83Ile, XP_047298453.1:p.Thr83Ile, XP_047298454.1:p.Thr83Ile, XP_047298457.1:p.Thr83Ile, XP_047298458.1:p.Thr83Ile, XP_047298461.1:p.Thr83Ile, XP_047298460.1:p.Thr83Ile, XP_047298462.1:p.Thr83Ile, XP_047298463.1:p.Thr83Ile, XP_047298464.1:p.Thr83Ile, XP_047298465.1:p.Thr83Ile, XP_047298459.1:p.Thr83Ile, XP_047298448.1:p.Thr83Ile, XP_047298445.1:p.Thr83Ile, XP_047298456.1:p.Thr83Ile, XP_047298455.1:p.Thr83Ile, XP_047298446.1:p.Thr83Ile, XP_047298444.1:p.Thr83Ile

                                        20.

                                        rs1440300408 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          X:152969419 (GRCh38)
                                          X:152137963 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:152969418:A:G
                                          Gene:
                                          ZNF185 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.00001/1 (GnomAD)
                                          HGVS:
                                          NC_000023.11:g.152969419A>G, NW_003871103.3:g.403402A>G, NG_021255.2:g.59978A>G, NM_007150.3:c.1906A>G, NM_001178108.2:c.1909A>G, NM_001178108.1:c.1909A>G, NM_001388432.2:c.1909A>G, NM_001388432.1:c.1909A>G, NM_001178113.2:c.1243A>G, NM_001178113.1:c.1243A>G, NM_001178115.2:c.820A>G, NM_001178115.1:c.820A>G, NM_001178106.1:c.2002A>G, NM_001395254.1:c.2005A>G, NM_001178107.1:c.1915A>G, NM_001178109.1:c.1819A>G, NM_001178110.1:c.1729A>G, NW_025791818.1:g.584609A>G, NC_000023.10:g.152137963A>G, XM_005274746.4:c.1648A>G, XM_005274746.3:c.1648A>G, XM_005274746.2:c.1648A>G, XM_005274746.1:c.1648A>G, XM_017029822.3:c.2137A>G, XM_017029822.2:c.2137A>G, XM_017029822.1:c.2137A>G, XM_005274738.3:c.1906A>G, XM_005274738.2:c.1906A>G, XM_005274738.1:c.1906A>G, XM_005274741.3:c.1819A>G, XM_005274741.2:c.1819A>G, XM_005274741.1:c.1819A>G, XM_005274740.3:c.1819A>G, XM_005274740.2:c.1819A>G, XM_005274740.1:c.1819A>G, XM_005274742.3:c.1816A>G, XM_005274742.2:c.1816A>G, XM_005274742.1:c.1816A>G, XM_005274744.3:c.1732A>G, XM_005274744.2:c.1732A>G, XM_005274744.1:c.1732A>G, XM_005274745.3:c.1729A>G, XM_005274745.2:c.1729A>G, XM_005274745.1:c.1729A>G, XM_017029821.2:c.2137A>G, XM_017029821.1:c.2137A>G, XM_017029823.2:c.2134A>G, XM_017029823.1:c.2134A>G, XM_017029824.2:c.2053A>G, XM_017029824.1:c.2053A>G, XM_017029825.2:c.2050A>G, XM_017029825.1:c.2050A>G, XM_017029826.2:c.2047A>G, XM_017029826.1:c.2047A>G, XM_017029827.2:c.2044A>G, XM_017029827.1:c.2044A>G, XM_017029828.2:c.2041A>G, XM_017029828.1:c.2041A>G, XM_017029829.2:c.1960A>G, XM_017029829.1:c.1960A>G, XM_017029830.2:c.1954A>G, XM_017029830.1:c.1954A>G, XM_017029831.2:c.1951A>G, XM_017029831.1:c.1951A>G, XM_017029832.2:c.1942A>G, XM_017029832.1:c.1942A>G, XM_017029833.2:c.1876A>G, XM_017029833.1:c.1876A>G, XM_017029834.2:c.1864A>G, XM_017029834.1:c.1864A>G, XM_017029835.2:c.1825A>G, XM_017029835.1:c.1825A>G, XM_011531194.2:c.1810A>G, XM_011531194.1:c.1810A>G, XM_011531195.2:c.1807A>G, XM_011531195.1:c.1807A>G, XM_047442488.1:c.2038A>G, XM_047442489.1:c.1948A>G, XM_047442490.1:c.1918A>G, XM_047442491.1:c.1915A>G, XM_047442496.1:c.1819A>G, XM_047442492.1:c.1831A>G, XM_047442493.1:c.1828A>G, XM_047442494.1:c.1825A>G, XM_047442495.1:c.1822A>G, XM_047442497.1:c.1807A>G, XM_047442498.1:c.1738A>G, XM_047442499.1:c.1735A>G, XM_047442500.1:c.1723A>G, XM_047442501.1:c.1711A>G, XM_047442502.1:c.1708A>G, XM_047442503.1:c.1633A>G, XM_047442505.1:c.1630A>G, XM_047442507.1:c.1621A>G, XM_047442508.1:c.1549A>G, XM_047442509.1:c.1534A>G, NM_001178114.1:c.1195A>G, XM_047442506.1:c.1624A>G, XM_047442504.1:c.1630A>G, NP_009081.2:p.Ile636Val, NP_001171579.1:p.Ile637Val, NP_001375361.1:p.Ile637Val, NP_001171584.1:p.Ile415Val, NP_001171586.1:p.Ile274Val, NP_001171577.1:p.Ile668Val, NP_001382183.1:p.Ile669Val, NP_001171578.1:p.Ile639Val, NP_001171580.1:p.Ile607Val, NP_001171581.1:p.Ile577Val, XP_005274803.1:p.Ile550Val, XP_016885311.1:p.Ile713Val, XP_005274795.1:p.Ile636Val, XP_005274798.1:p.Ile607Val, XP_005274797.1:p.Ile607Val, XP_005274799.1:p.Ile606Val, XP_005274801.1:p.Ile578Val, XP_005274802.1:p.Ile577Val, XP_016885310.1:p.Ile713Val, XP_016885312.1:p.Ile712Val, XP_016885313.1:p.Ile685Val, XP_016885314.1:p.Ile684Val, XP_016885315.1:p.Ile683Val, XP_016885316.1:p.Ile682Val, XP_016885317.1:p.Ile681Val, XP_016885318.1:p.Ile654Val, XP_016885319.1:p.Ile652Val, XP_016885320.1:p.Ile651Val, XP_016885321.1:p.Ile648Val, XP_016885322.1:p.Ile626Val, XP_016885323.1:p.Ile622Val, XP_016885324.1:p.Ile609Val, XP_011529496.1:p.Ile604Val, XP_011529497.1:p.Ile603Val, XP_047298444.1:p.Ile680Val, XP_047298445.1:p.Ile650Val, XP_047298446.1:p.Ile640Val, XP_047298447.1:p.Ile639Val, XP_047298452.1:p.Ile607Val, XP_047298448.1:p.Ile611Val, XP_047298449.1:p.Ile610Val, XP_047298450.1:p.Ile609Val, XP_047298451.1:p.Ile608Val, XP_047298453.1:p.Ile603Val, XP_047298454.1:p.Ile580Val, XP_047298455.1:p.Ile579Val, XP_047298456.1:p.Ile575Val, XP_047298457.1:p.Ile571Val, XP_047298458.1:p.Ile570Val, XP_047298459.1:p.Ile545Val, XP_047298461.1:p.Ile544Val, XP_047298463.1:p.Ile541Val, XP_047298464.1:p.Ile517Val, XP_047298465.1:p.Ile512Val, XP_047298462.1:p.Ile542Val, XP_047298460.1:p.Ile544Val

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...