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Items: 1 to 20 of 854

1.

rs1490483675 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:48450895 (GRCh38)
    10:49658938 (GRCh37)
    Canonical SPDI:
    NC_000010.11:48450894:G:A
    Gene:
    ARHGAP22 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    NC_000010.11:g.48450895G>A, NC_000010.10:g.49658938G>A, NG_053158.1:g.210371C>T, NM_021226.4:c.1234C>T, NM_021226.3:c.1234C>T, NM_001256025.3:c.1252C>T, NM_001256025.2:c.1252C>T, NR_045675.2:n.2068C>T, NR_045675.1:n.2068C>T, NR_144643.2:n.1978C>T, NR_144643.1:n.2036C>T, NR_144642.2:n.1926C>T, NR_144642.1:n.1984C>T, NR_144644.2:n.1849C>T, NR_144644.1:n.1907C>T, NM_001347738.2:c.1252C>T, NM_001347738.1:c.1252C>T, NM_001256024.2:c.1282C>T, NM_001256024.1:c.1282C>T, NR_144645.2:n.1459C>T, NR_144645.1:n.1517C>T, NM_001347735.2:c.1105C>T, NM_001347735.1:c.1105C>T, NR_144646.2:n.1303C>T, NR_144646.1:n.1361C>T, NM_001256026.2:c.964C>T, NM_001256026.1:c.964C>T, XM_005270014.4:c.1012C>T, XM_005270014.3:c.1012C>T, XM_005270014.2:c.1012C>T, XM_005270014.1:c.1012C>T, XM_011540002.3:c.1300C>T, XM_011540002.2:c.1300C>T, XM_011540002.1:c.1300C>T, XM_011540006.3:c.1123C>T, XM_011540006.2:c.1123C>T, XM_011540006.1:c.1123C>T, XM_017016471.3:c.796C>T, XM_017016471.2:c.796C>T, XM_017016471.1:c.796C>T, XM_011540011.3:c.835C>T, XM_011540011.2:c.835C>T, XM_011540011.1:c.835C>T, XM_011540003.2:c.1300C>T, XM_011540003.1:c.1300C>T, XM_024448099.2:c.1300C>T, XM_024448099.1:c.1300C>T, XM_011540005.2:c.1012C>T, XM_011540005.1:c.1012C>T, XM_047425587.1:c.1249C>T, XM_047425586.1:c.1252C>T, XM_047425590.1:c.898C>T, XM_047425588.1:c.994C>T, XM_047425589.1:c.964C>T, NM_001256027.1:c.907C>T, XM_047425591.1:c.898C>T, NP_067049.2:p.Pro412Ser, NP_001242954.1:p.Pro418Ser, NP_001334667.1:p.Pro418Ser, NP_001242953.1:p.Pro428Ser, NP_001334664.1:p.Pro369Ser, NP_001242955.1:p.Pro322Ser, XP_005270071.1:p.Pro338Ser, XP_011538304.1:p.Pro434Ser, XP_011538308.1:p.Pro375Ser, XP_016871960.1:p.Pro266Ser, XP_011538313.1:p.Pro279Ser, XP_011538305.1:p.Pro434Ser, XP_024303867.1:p.Pro434Ser, XP_011538307.1:p.Pro338Ser, XP_047281543.1:p.Pro417Ser, XP_047281542.1:p.Pro418Ser, XP_047281546.1:p.Pro300Ser, XP_047281544.1:p.Pro332Ser, XP_047281545.1:p.Pro322Ser, XP_047281547.1:p.Pro300Ser

    2.

    rs1490356981 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      10:48583085 (GRCh38)
      10:49791130 (GRCh37)
      Canonical SPDI:
      NC_000010.11:48583084:C:G,NC_000010.11:48583084:C:T
      Gene:
      ARHGAP22 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.48583085C>G, NC_000010.11:g.48583085C>T, NC_000010.10:g.49791130C>G, NC_000010.10:g.49791130C>T, NG_053158.1:g.78181G>C, NG_053158.1:g.78181G>A, NM_021226.4:c.102G>C, NM_021226.4:c.102G>A, NM_021226.3:c.102G>C, NM_021226.3:c.102G>A, NM_001256025.3:c.120G>C, NM_001256025.3:c.120G>A, NM_001256025.2:c.120G>C, NM_001256025.2:c.120G>A, NR_045675.2:n.988G>C, NR_045675.2:n.988G>A, NR_045675.1:n.988G>C, NR_045675.1:n.988G>A, NR_144643.2:n.379G>C, NR_144643.2:n.379G>A, NR_144643.1:n.437G>C, NR_144643.1:n.437G>A, NR_144642.2:n.379G>C, NR_144642.2:n.379G>A, NR_144642.1:n.437G>C, NR_144642.1:n.437G>A, NR_144644.2:n.379G>C, NR_144644.2:n.379G>A, NR_144644.1:n.437G>C, NR_144644.1:n.437G>A, NM_001347738.2:c.120G>C, NM_001347738.2:c.120G>A, NM_001347738.1:c.120G>C, NM_001347738.1:c.120G>A, NM_001256024.2:c.102G>C, NM_001256024.2:c.102G>A, NM_001256024.1:c.102G>C, NM_001256024.1:c.102G>A, NR_144645.2:n.379G>C, NR_144645.2:n.379G>A, NR_144645.1:n.437G>C, NR_144645.1:n.437G>A, NM_001347735.2:c.102G>C, NM_001347735.2:c.102G>A, NM_001347735.1:c.102G>C, NM_001347735.1:c.102G>A, NR_144646.2:n.379G>C, NR_144646.2:n.379G>A, NR_144646.1:n.437G>C, NR_144646.1:n.437G>A, NM_001347736.2:c.120G>C, NM_001347736.2:c.120G>A, NM_001347736.1:c.120G>C, NM_001347736.1:c.120G>A, NM_001347737.2:c.102G>C, NM_001347737.2:c.102G>A, NM_001347737.1:c.102G>C, NM_001347737.1:c.102G>A, XM_011540013.4:c.120G>C, XM_011540013.4:c.120G>A, XM_011540013.3:c.120G>C, XM_011540013.3:c.120G>A, XM_011540013.2:c.120G>C, XM_011540013.2:c.120G>A, XM_011540013.1:c.120G>C, XM_011540013.1:c.120G>A, XM_011540015.4:c.120G>C, XM_011540015.4:c.120G>A, XM_011540015.3:c.120G>C, XM_011540015.3:c.120G>A, XM_011540015.2:c.120G>C, XM_011540015.2:c.120G>A, XM_011540015.1:c.120G>C, XM_011540015.1:c.120G>A, XM_011540002.3:c.120G>C, XM_011540002.3:c.120G>A, XM_011540002.2:c.120G>C, XM_011540002.2:c.120G>A, XM_011540002.1:c.120G>C, XM_011540002.1:c.120G>A, XM_011540006.3:c.120G>C, XM_011540006.3:c.120G>A, XM_011540006.2:c.120G>C, XM_011540006.2:c.120G>A, XM_011540006.1:c.120G>C, XM_011540006.1:c.120G>A, XM_011540003.2:c.120G>C, XM_011540003.2:c.120G>A, XM_011540003.1:c.120G>C, XM_011540003.1:c.120G>A, XM_024448099.2:c.120G>C, XM_024448099.2:c.120G>A, XM_024448099.1:c.120G>C, XM_024448099.1:c.120G>A, XM_024448100.2:c.120G>C, XM_024448100.2:c.120G>A, XM_024448100.1:c.120G>C, XM_024448100.1:c.120G>A, XM_024448106.2:c.120G>C, XM_024448106.2:c.120G>A, XM_024448106.1:c.120G>C, XM_024448106.1:c.120G>A, XM_017016476.2:c.102G>C, XM_017016476.2:c.102G>A, XM_017016476.1:c.102G>C, XM_017016476.1:c.102G>A, XM_024448102.2:c.120G>C, XM_024448102.2:c.120G>A, XM_024448102.1:c.120G>C, XM_024448102.1:c.120G>A, XM_047425586.1:c.120G>C, XM_047425586.1:c.120G>A, XM_047425593.1:c.120G>C, XM_047425593.1:c.120G>A, XM_047425592.1:c.120G>C, XM_047425592.1:c.120G>A, XM_047425594.1:c.120G>C, XM_047425594.1:c.120G>A, XM_047425595.1:c.120G>C, XM_047425595.1:c.120G>A, NP_067049.2:p.Arg34Ser, NP_001242954.1:p.Arg40Ser, NP_001334667.1:p.Arg40Ser, NP_001242953.1:p.Arg34Ser, NP_001334664.1:p.Arg34Ser, NP_001334665.1:p.Arg40Ser, NP_001334666.1:p.Arg34Ser, XP_011538315.1:p.Arg40Ser, XP_011538317.1:p.Arg40Ser, XP_011538304.1:p.Arg40Ser, XP_011538308.1:p.Arg40Ser, XP_011538305.1:p.Arg40Ser, XP_024303867.1:p.Arg40Ser, XP_024303868.1:p.Arg40Ser, XP_024303874.1:p.Arg40Ser, XP_016871965.1:p.Arg34Ser, XP_024303870.1:p.Arg40Ser, XP_047281542.1:p.Arg40Ser, XP_047281549.1:p.Arg40Ser, XP_047281548.1:p.Arg40Ser, XP_047281550.1:p.Arg40Ser, XP_047281551.1:p.Arg40Ser

      3.

      rs1489153920 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:48451082 (GRCh38)
        10:49659125 (GRCh37)
        Canonical SPDI:
        NC_000010.11:48451081:G:A
        Gene:
        ARHGAP22 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.48451082G>A, NC_000010.10:g.49659125G>A, NG_053158.1:g.210184C>T, NM_021226.4:c.1047C>T, NM_021226.3:c.1047C>T, NM_001256025.3:c.1065C>T, NM_001256025.2:c.1065C>T, NR_045675.2:n.1881C>T, NR_045675.1:n.1881C>T, NR_144643.2:n.1791C>T, NR_144643.1:n.1849C>T, NR_144642.2:n.1739C>T, NR_144642.1:n.1797C>T, NR_144644.2:n.1662C>T, NR_144644.1:n.1720C>T, NM_001347738.2:c.1065C>T, NM_001347738.1:c.1065C>T, NM_001256024.2:c.1095C>T, NM_001256024.1:c.1095C>T, NR_144645.2:n.1272C>T, NR_144645.1:n.1330C>T, NM_001347735.2:c.918C>T, NM_001347735.1:c.918C>T, NR_144646.2:n.1116C>T, NR_144646.1:n.1174C>T, NM_001256026.2:c.777C>T, NM_001256026.1:c.777C>T, XM_005270014.4:c.825C>T, XM_005270014.3:c.825C>T, XM_005270014.2:c.825C>T, XM_005270014.1:c.825C>T, XM_011540002.3:c.1113C>T, XM_011540002.2:c.1113C>T, XM_011540002.1:c.1113C>T, XM_011540006.3:c.936C>T, XM_011540006.2:c.936C>T, XM_011540006.1:c.936C>T, XM_017016471.3:c.609C>T, XM_017016471.2:c.609C>T, XM_017016471.1:c.609C>T, XM_011540011.3:c.648C>T, XM_011540011.2:c.648C>T, XM_011540011.1:c.648C>T, XM_011540003.2:c.1113C>T, XM_011540003.1:c.1113C>T, XM_024448099.2:c.1113C>T, XM_024448099.1:c.1113C>T, XM_011540005.2:c.825C>T, XM_011540005.1:c.825C>T, XM_047425587.1:c.1062C>T, XM_047425586.1:c.1065C>T, XM_047425590.1:c.711C>T, XM_047425588.1:c.807C>T, XM_047425593.1:c.*272C>T, XM_047425589.1:c.777C>T, NM_001256027.1:c.720C>T, XM_047425591.1:c.711C>T

        4.

        rs1487289835 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          10:48450461 (GRCh38)
          10:49658504 (GRCh37)
          Canonical SPDI:
          NC_000010.11:48450460:G:A
          Gene:
          ARHGAP22 (Varview)
          Functional Consequence:
          intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000015/4 (TOPMED)
          HGVS:
          NC_000010.11:g.48450461G>A, NC_000010.10:g.49658504G>A, NG_053158.1:g.210805C>T, NM_021226.4:c.1668C>T, NM_021226.3:c.1668C>T, NM_001256025.3:c.1686C>T, NM_001256025.2:c.1686C>T, NR_045675.2:n.2502C>T, NR_045675.1:n.2502C>T, NR_144643.2:n.2412C>T, NR_144643.1:n.2470C>T, NR_144642.2:n.2360C>T, NR_144642.1:n.2418C>T, NR_144644.2:n.2283C>T, NR_144644.1:n.2341C>T, NM_001347738.2:c.1686C>T, NM_001347738.1:c.1686C>T, NM_001256024.2:c.1716C>T, NM_001256024.1:c.1716C>T, NR_144645.2:n.1893C>T, NR_144645.1:n.1951C>T, NM_001347735.2:c.1539C>T, NM_001347735.1:c.1539C>T, NR_144646.2:n.1737C>T, NR_144646.1:n.1795C>T, NM_001256026.2:c.1398C>T, NM_001256026.1:c.1398C>T, XM_005270014.4:c.1446C>T, XM_005270014.3:c.1446C>T, XM_005270014.2:c.1446C>T, XM_005270014.1:c.1446C>T, XM_011540002.3:c.1734C>T, XM_011540002.2:c.1734C>T, XM_011540002.1:c.1734C>T, XM_011540006.3:c.1557C>T, XM_011540006.2:c.1557C>T, XM_011540006.1:c.1557C>T, XM_017016471.3:c.1230C>T, XM_017016471.2:c.1230C>T, XM_017016471.1:c.1230C>T, XM_011540011.3:c.1269C>T, XM_011540011.2:c.1269C>T, XM_011540011.1:c.1269C>T, XM_011540003.2:c.1734C>T, XM_011540003.1:c.1734C>T, XM_024448099.2:c.1734C>T, XM_024448099.1:c.1734C>T, XM_011540005.2:c.1446C>T, XM_011540005.1:c.1446C>T, XM_047425587.1:c.1683C>T, XM_047425586.1:c.1686C>T, XM_047425590.1:c.1332C>T, XM_047425588.1:c.1428C>T, XM_047425589.1:c.1398C>T, NM_001256027.1:c.1341C>T, XM_047425591.1:c.1332C>T

          5.

          rs1485997951 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:48450765 (GRCh38)
            10:49658808 (GRCh37)
            Canonical SPDI:
            NC_000010.11:48450764:G:A
            Gene:
            ARHGAP22 (Varview)
            Functional Consequence:
            intron_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            HGVS:
            NC_000010.11:g.48450765G>A, NC_000010.10:g.49658808G>A, NG_053158.1:g.210501C>T, NM_021226.4:c.1364C>T, NM_021226.3:c.1364C>T, NM_001256025.3:c.1382C>T, NM_001256025.2:c.1382C>T, NR_045675.2:n.2198C>T, NR_045675.1:n.2198C>T, NR_144643.2:n.2108C>T, NR_144643.1:n.2166C>T, NR_144642.2:n.2056C>T, NR_144642.1:n.2114C>T, NR_144644.2:n.1979C>T, NR_144644.1:n.2037C>T, NM_001347738.2:c.1382C>T, NM_001347738.1:c.1382C>T, NM_001256024.2:c.1412C>T, NM_001256024.1:c.1412C>T, NR_144645.2:n.1589C>T, NR_144645.1:n.1647C>T, NM_001347735.2:c.1235C>T, NM_001347735.1:c.1235C>T, NR_144646.2:n.1433C>T, NR_144646.1:n.1491C>T, NM_001256026.2:c.1094C>T, NM_001256026.1:c.1094C>T, XM_005270014.4:c.1142C>T, XM_005270014.3:c.1142C>T, XM_005270014.2:c.1142C>T, XM_005270014.1:c.1142C>T, XM_011540002.3:c.1430C>T, XM_011540002.2:c.1430C>T, XM_011540002.1:c.1430C>T, XM_011540006.3:c.1253C>T, XM_011540006.2:c.1253C>T, XM_011540006.1:c.1253C>T, XM_017016471.3:c.926C>T, XM_017016471.2:c.926C>T, XM_017016471.1:c.926C>T, XM_011540011.3:c.965C>T, XM_011540011.2:c.965C>T, XM_011540011.1:c.965C>T, XM_011540003.2:c.1430C>T, XM_011540003.1:c.1430C>T, XM_024448099.2:c.1430C>T, XM_024448099.1:c.1430C>T, XM_011540005.2:c.1142C>T, XM_011540005.1:c.1142C>T, XM_047425587.1:c.1379C>T, XM_047425586.1:c.1382C>T, XM_047425590.1:c.1028C>T, XM_047425588.1:c.1124C>T, XM_047425589.1:c.1094C>T, NM_001256027.1:c.1037C>T, XM_047425591.1:c.1028C>T, NP_067049.2:p.Ser455Phe, NP_001242954.1:p.Ser461Phe, NP_001334667.1:p.Ser461Phe, NP_001242953.1:p.Ser471Phe, NP_001334664.1:p.Ser412Phe, NP_001242955.1:p.Ser365Phe, XP_005270071.1:p.Ser381Phe, XP_011538304.1:p.Ser477Phe, XP_011538308.1:p.Ser418Phe, XP_016871960.1:p.Ser309Phe, XP_011538313.1:p.Ser322Phe, XP_011538305.1:p.Ser477Phe, XP_024303867.1:p.Ser477Phe, XP_011538307.1:p.Ser381Phe, XP_047281543.1:p.Ser460Phe, XP_047281542.1:p.Ser461Phe, XP_047281546.1:p.Ser343Phe, XP_047281544.1:p.Ser375Phe, XP_047281545.1:p.Ser365Phe, XP_047281547.1:p.Ser343Phe

            6.

            rs1485661888 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              10:48450544 (GRCh38)
              10:49658587 (GRCh37)
              Canonical SPDI:
              NC_000010.11:48450543:A:C,NC_000010.11:48450543:A:G
              Gene:
              ARHGAP22 (Varview)
              Functional Consequence:
              intron_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              HGVS:
              NC_000010.11:g.48450544A>C, NC_000010.11:g.48450544A>G, NC_000010.10:g.49658587A>C, NC_000010.10:g.49658587A>G, NG_053158.1:g.210722T>G, NG_053158.1:g.210722T>C, NM_021226.4:c.1585T>G, NM_021226.4:c.1585T>C, NM_021226.3:c.1585T>G, NM_021226.3:c.1585T>C, NM_001256025.3:c.1603T>G, NM_001256025.3:c.1603T>C, NM_001256025.2:c.1603T>G, NM_001256025.2:c.1603T>C, NR_045675.2:n.2419T>G, NR_045675.2:n.2419T>C, NR_045675.1:n.2419T>G, NR_045675.1:n.2419T>C, NR_144643.2:n.2329T>G, NR_144643.2:n.2329T>C, NR_144643.1:n.2387T>G, NR_144643.1:n.2387T>C, NR_144642.2:n.2277T>G, NR_144642.2:n.2277T>C, NR_144642.1:n.2335T>G, NR_144642.1:n.2335T>C, NR_144644.2:n.2200T>G, NR_144644.2:n.2200T>C, NR_144644.1:n.2258T>G, NR_144644.1:n.2258T>C, NM_001347738.2:c.1603T>G, NM_001347738.2:c.1603T>C, NM_001347738.1:c.1603T>G, NM_001347738.1:c.1603T>C, NM_001256024.2:c.1633T>G, NM_001256024.2:c.1633T>C, NM_001256024.1:c.1633T>G, NM_001256024.1:c.1633T>C, NR_144645.2:n.1810T>G, NR_144645.2:n.1810T>C, NR_144645.1:n.1868T>G, NR_144645.1:n.1868T>C, NM_001347735.2:c.1456T>G, NM_001347735.2:c.1456T>C, NM_001347735.1:c.1456T>G, NM_001347735.1:c.1456T>C, NR_144646.2:n.1654T>G, NR_144646.2:n.1654T>C, NR_144646.1:n.1712T>G, NR_144646.1:n.1712T>C, NM_001256026.2:c.1315T>G, NM_001256026.2:c.1315T>C, NM_001256026.1:c.1315T>G, NM_001256026.1:c.1315T>C, XM_005270014.4:c.1363T>G, XM_005270014.4:c.1363T>C, XM_005270014.3:c.1363T>G, XM_005270014.3:c.1363T>C, XM_005270014.2:c.1363T>G, XM_005270014.2:c.1363T>C, XM_005270014.1:c.1363T>G, XM_005270014.1:c.1363T>C, XM_011540002.3:c.1651T>G, XM_011540002.3:c.1651T>C, XM_011540002.2:c.1651T>G, XM_011540002.2:c.1651T>C, XM_011540002.1:c.1651T>G, XM_011540002.1:c.1651T>C, XM_011540006.3:c.1474T>G, XM_011540006.3:c.1474T>C, XM_011540006.2:c.1474T>G, XM_011540006.2:c.1474T>C, XM_011540006.1:c.1474T>G, XM_011540006.1:c.1474T>C, XM_017016471.3:c.1147T>G, XM_017016471.3:c.1147T>C, XM_017016471.2:c.1147T>G, XM_017016471.2:c.1147T>C, XM_017016471.1:c.1147T>G, XM_017016471.1:c.1147T>C, XM_011540011.3:c.1186T>G, XM_011540011.3:c.1186T>C, XM_011540011.2:c.1186T>G, XM_011540011.2:c.1186T>C, XM_011540011.1:c.1186T>G, XM_011540011.1:c.1186T>C, XM_011540003.2:c.1651T>G, XM_011540003.2:c.1651T>C, XM_011540003.1:c.1651T>G, XM_011540003.1:c.1651T>C, XM_024448099.2:c.1651T>G, XM_024448099.2:c.1651T>C, XM_024448099.1:c.1651T>G, XM_024448099.1:c.1651T>C, XM_011540005.2:c.1363T>G, XM_011540005.2:c.1363T>C, XM_011540005.1:c.1363T>G, XM_011540005.1:c.1363T>C, XM_047425587.1:c.1600T>G, XM_047425587.1:c.1600T>C, XM_047425586.1:c.1603T>G, XM_047425586.1:c.1603T>C, XM_047425590.1:c.1249T>G, XM_047425590.1:c.1249T>C, XM_047425588.1:c.1345T>G, XM_047425588.1:c.1345T>C, XM_047425589.1:c.1315T>G, XM_047425589.1:c.1315T>C, NM_001256027.1:c.1258T>G, NM_001256027.1:c.1258T>C, XM_047425591.1:c.1249T>G, XM_047425591.1:c.1249T>C, NP_067049.2:p.Cys529Gly, NP_067049.2:p.Cys529Arg, NP_001242954.1:p.Cys535Gly, NP_001242954.1:p.Cys535Arg, NP_001334667.1:p.Cys535Gly, NP_001334667.1:p.Cys535Arg, NP_001242953.1:p.Cys545Gly, NP_001242953.1:p.Cys545Arg, NP_001334664.1:p.Cys486Gly, NP_001334664.1:p.Cys486Arg, NP_001242955.1:p.Cys439Gly, NP_001242955.1:p.Cys439Arg, XP_005270071.1:p.Cys455Gly, XP_005270071.1:p.Cys455Arg, XP_011538304.1:p.Cys551Gly, XP_011538304.1:p.Cys551Arg, XP_011538308.1:p.Cys492Gly, XP_011538308.1:p.Cys492Arg, XP_016871960.1:p.Cys383Gly, XP_016871960.1:p.Cys383Arg, XP_011538313.1:p.Cys396Gly, XP_011538313.1:p.Cys396Arg, XP_011538305.1:p.Cys551Gly, XP_011538305.1:p.Cys551Arg, XP_024303867.1:p.Cys551Gly, XP_024303867.1:p.Cys551Arg, XP_011538307.1:p.Cys455Gly, XP_011538307.1:p.Cys455Arg, XP_047281543.1:p.Cys534Gly, XP_047281543.1:p.Cys534Arg, XP_047281542.1:p.Cys535Gly, XP_047281542.1:p.Cys535Arg, XP_047281546.1:p.Cys417Gly, XP_047281546.1:p.Cys417Arg, XP_047281544.1:p.Cys449Gly, XP_047281544.1:p.Cys449Arg, XP_047281545.1:p.Cys439Gly, XP_047281545.1:p.Cys439Arg, XP_047281547.1:p.Cys417Gly, XP_047281547.1:p.Cys417Arg

              7.

              rs1485437715 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                10:48446548 (GRCh38)
                10:49654591 (GRCh37)
                Canonical SPDI:
                NC_000010.11:48446547:T:G
                Gene:
                ARHGAP22 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.48446548T>G, NC_000010.10:g.49654591T>G, NG_053158.1:g.214718A>C, NM_021226.4:c.1940A>C, NM_021226.3:c.1940A>C, NM_001256025.3:c.1958A>C, NM_001256025.2:c.1958A>C, NR_045675.2:n.2774A>C, NR_045675.1:n.2774A>C, NR_144643.2:n.2684A>C, NR_144643.1:n.2742A>C, NR_144642.2:n.2632A>C, NR_144642.1:n.2690A>C, NR_144644.2:n.2555A>C, NR_144644.1:n.2613A>C, NM_001347738.2:c.1958A>C, NM_001347738.1:c.1958A>C, NM_001256024.2:c.1988A>C, NM_001256024.1:c.1988A>C, NR_144645.2:n.2165A>C, NR_144645.1:n.2223A>C, NM_001347735.2:c.1811A>C, NM_001347735.1:c.1811A>C, NR_144646.2:n.2009A>C, NR_144646.1:n.2067A>C, NM_001256026.2:c.1670A>C, NM_001256026.1:c.1670A>C, XM_011540015.4:c.*46A>C, XM_011540015.3:c.*46A>C, XM_011540015.2:c.*46A>C, XM_011540015.1:c.*46A>C, XM_005270014.4:c.1718A>C, XM_005270014.3:c.1718A>C, XM_005270014.2:c.1718A>C, XM_005270014.1:c.1718A>C, XM_011540002.3:c.2006A>C, XM_011540002.2:c.2006A>C, XM_011540002.1:c.2006A>C, XM_011540006.3:c.1829A>C, XM_011540006.2:c.1829A>C, XM_011540006.1:c.1829A>C, XM_017016471.3:c.1502A>C, XM_017016471.2:c.1502A>C, XM_017016471.1:c.1502A>C, XM_011540011.3:c.1541A>C, XM_011540011.2:c.1541A>C, XM_011540011.1:c.1541A>C, XM_011540003.2:c.2006A>C, XM_011540003.1:c.2006A>C, XM_024448099.2:c.2006A>C, XM_024448099.1:c.2006A>C, XM_011540005.2:c.1718A>C, XM_011540005.1:c.1718A>C, XM_047425587.1:c.1955A>C, XM_047425586.1:c.1958A>C, XM_047425590.1:c.1604A>C, XM_047425588.1:c.1700A>C, XM_047425589.1:c.1670A>C, NM_001256027.1:c.1613A>C, XM_047425591.1:c.1604A>C, NP_067049.2:p.Lys647Thr, NP_001242954.1:p.Lys653Thr, NP_001334667.1:p.Lys653Thr, NP_001242953.1:p.Lys663Thr, NP_001334664.1:p.Lys604Thr, NP_001242955.1:p.Lys557Thr, XP_005270071.1:p.Lys573Thr, XP_011538304.1:p.Lys669Thr, XP_011538308.1:p.Lys610Thr, XP_016871960.1:p.Lys501Thr, XP_011538313.1:p.Lys514Thr, XP_011538305.1:p.Lys669Thr, XP_024303867.1:p.Lys669Thr, XP_011538307.1:p.Lys573Thr, XP_047281543.1:p.Lys652Thr, XP_047281542.1:p.Lys653Thr, XP_047281546.1:p.Lys535Thr, XP_047281544.1:p.Lys567Thr, XP_047281545.1:p.Lys557Thr, XP_047281547.1:p.Lys535Thr

                8.

                rs1483888090 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  10:48583115 (GRCh38)
                  10:49791160 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:48583114:C:A
                  Gene:
                  ARHGAP22 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000010.11:g.48583115C>A, NC_000010.10:g.49791160C>A, NG_053158.1:g.78151G>T, NM_021226.4:c.72G>T, NM_021226.3:c.72G>T, NM_001256025.3:c.90G>T, NM_001256025.2:c.90G>T, NR_045675.2:n.958G>T, NR_045675.1:n.958G>T, NR_144643.2:n.349G>T, NR_144643.1:n.407G>T, NR_144642.2:n.349G>T, NR_144642.1:n.407G>T, NR_144644.2:n.349G>T, NR_144644.1:n.407G>T, NM_001347738.2:c.90G>T, NM_001347738.1:c.90G>T, NM_001256024.2:c.72G>T, NM_001256024.1:c.72G>T, NR_144645.2:n.349G>T, NR_144645.1:n.407G>T, NM_001347735.2:c.72G>T, NM_001347735.1:c.72G>T, NR_144646.2:n.349G>T, NR_144646.1:n.407G>T, NM_001347736.2:c.90G>T, NM_001347736.1:c.90G>T, NM_001347737.2:c.72G>T, NM_001347737.1:c.72G>T, XM_011540013.4:c.90G>T, XM_011540013.3:c.90G>T, XM_011540013.2:c.90G>T, XM_011540013.1:c.90G>T, XM_011540015.4:c.90G>T, XM_011540015.3:c.90G>T, XM_011540015.2:c.90G>T, XM_011540015.1:c.90G>T, XM_011540002.3:c.90G>T, XM_011540002.2:c.90G>T, XM_011540002.1:c.90G>T, XM_011540006.3:c.90G>T, XM_011540006.2:c.90G>T, XM_011540006.1:c.90G>T, XM_011540003.2:c.90G>T, XM_011540003.1:c.90G>T, XM_024448099.2:c.90G>T, XM_024448099.1:c.90G>T, XM_024448100.2:c.90G>T, XM_024448100.1:c.90G>T, XM_024448106.2:c.90G>T, XM_024448106.1:c.90G>T, XM_017016476.2:c.72G>T, XM_017016476.1:c.72G>T, XM_024448102.2:c.90G>T, XM_024448102.1:c.90G>T, XM_047425586.1:c.90G>T, XM_047425593.1:c.90G>T, XM_047425592.1:c.90G>T, XM_047425594.1:c.90G>T, XM_047425595.1:c.90G>T

                  9.

                  rs1483189813 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    10:48451031 (GRCh38)
                    10:49659074 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:48451030:G:A,NC_000010.11:48451030:G:C
                    Gene:
                    ARHGAP22 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant,downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    A=0.000006/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.48451031G>A, NC_000010.11:g.48451031G>C, NC_000010.10:g.49659074G>A, NC_000010.10:g.49659074G>C, NG_053158.1:g.210235C>T, NG_053158.1:g.210235C>G, NM_021226.4:c.1098C>T, NM_021226.4:c.1098C>G, NM_021226.3:c.1098C>T, NM_021226.3:c.1098C>G, NM_001256025.3:c.1116C>T, NM_001256025.3:c.1116C>G, NM_001256025.2:c.1116C>T, NM_001256025.2:c.1116C>G, NR_045675.2:n.1932C>T, NR_045675.2:n.1932C>G, NR_045675.1:n.1932C>T, NR_045675.1:n.1932C>G, NR_144643.2:n.1842C>T, NR_144643.2:n.1842C>G, NR_144643.1:n.1900C>T, NR_144643.1:n.1900C>G, NR_144642.2:n.1790C>T, NR_144642.2:n.1790C>G, NR_144642.1:n.1848C>T, NR_144642.1:n.1848C>G, NR_144644.2:n.1713C>T, NR_144644.2:n.1713C>G, NR_144644.1:n.1771C>T, NR_144644.1:n.1771C>G, NM_001347738.2:c.1116C>T, NM_001347738.2:c.1116C>G, NM_001347738.1:c.1116C>T, NM_001347738.1:c.1116C>G, NM_001256024.2:c.1146C>T, NM_001256024.2:c.1146C>G, NM_001256024.1:c.1146C>T, NM_001256024.1:c.1146C>G, NR_144645.2:n.1323C>T, NR_144645.2:n.1323C>G, NR_144645.1:n.1381C>T, NR_144645.1:n.1381C>G, NM_001347735.2:c.969C>T, NM_001347735.2:c.969C>G, NM_001347735.1:c.969C>T, NM_001347735.1:c.969C>G, NR_144646.2:n.1167C>T, NR_144646.2:n.1167C>G, NR_144646.1:n.1225C>T, NR_144646.1:n.1225C>G, NM_001256026.2:c.828C>T, NM_001256026.2:c.828C>G, NM_001256026.1:c.828C>T, NM_001256026.1:c.828C>G, XM_005270014.4:c.876C>T, XM_005270014.4:c.876C>G, XM_005270014.3:c.876C>T, XM_005270014.3:c.876C>G, XM_005270014.2:c.876C>T, XM_005270014.2:c.876C>G, XM_005270014.1:c.876C>T, XM_005270014.1:c.876C>G, XM_011540002.3:c.1164C>T, XM_011540002.3:c.1164C>G, XM_011540002.2:c.1164C>T, XM_011540002.2:c.1164C>G, XM_011540002.1:c.1164C>T, XM_011540002.1:c.1164C>G, XM_011540006.3:c.987C>T, XM_011540006.3:c.987C>G, XM_011540006.2:c.987C>T, XM_011540006.2:c.987C>G, XM_011540006.1:c.987C>T, XM_011540006.1:c.987C>G, XM_017016471.3:c.660C>T, XM_017016471.3:c.660C>G, XM_017016471.2:c.660C>T, XM_017016471.2:c.660C>G, XM_017016471.1:c.660C>T, XM_017016471.1:c.660C>G, XM_011540011.3:c.699C>T, XM_011540011.3:c.699C>G, XM_011540011.2:c.699C>T, XM_011540011.2:c.699C>G, XM_011540011.1:c.699C>T, XM_011540011.1:c.699C>G, XM_011540003.2:c.1164C>T, XM_011540003.2:c.1164C>G, XM_011540003.1:c.1164C>T, XM_011540003.1:c.1164C>G, XM_024448099.2:c.1164C>T, XM_024448099.2:c.1164C>G, XM_024448099.1:c.1164C>T, XM_024448099.1:c.1164C>G, XM_011540005.2:c.876C>T, XM_011540005.2:c.876C>G, XM_011540005.1:c.876C>T, XM_011540005.1:c.876C>G, XM_047425587.1:c.1113C>T, XM_047425587.1:c.1113C>G, XM_047425586.1:c.1116C>T, XM_047425586.1:c.1116C>G, XM_047425590.1:c.762C>T, XM_047425590.1:c.762C>G, XM_047425588.1:c.858C>T, XM_047425588.1:c.858C>G, XM_047425593.1:c.*323C>T, XM_047425593.1:c.*323C>G, XM_047425589.1:c.828C>T, XM_047425589.1:c.828C>G, NM_001256027.1:c.771C>T, NM_001256027.1:c.771C>G, XM_047425591.1:c.762C>T, XM_047425591.1:c.762C>G, NP_067049.2:p.Cys366Trp, NP_001242954.1:p.Cys372Trp, NP_001334667.1:p.Cys372Trp, NP_001242953.1:p.Cys382Trp, NP_001334664.1:p.Cys323Trp, NP_001242955.1:p.Cys276Trp, XP_005270071.1:p.Cys292Trp, XP_011538304.1:p.Cys388Trp, XP_011538308.1:p.Cys329Trp, XP_016871960.1:p.Cys220Trp, XP_011538313.1:p.Cys233Trp, XP_011538305.1:p.Cys388Trp, XP_024303867.1:p.Cys388Trp, XP_011538307.1:p.Cys292Trp, XP_047281543.1:p.Cys371Trp, XP_047281542.1:p.Cys372Trp, XP_047281546.1:p.Cys254Trp, XP_047281544.1:p.Cys286Trp, XP_047281545.1:p.Cys276Trp, XP_047281547.1:p.Cys254Trp

                    10.

                    rs1482674282 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      10:48454159 (GRCh38)
                      10:49662202 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:48454158:G:A,NC_000010.11:48454158:G:T
                      Gene:
                      ARHGAP22 (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.48454159G>A, NC_000010.11:g.48454159G>T, NC_000010.10:g.49662202G>A, NC_000010.10:g.49662202G>T, NG_053158.1:g.207107C>T, NG_053158.1:g.207107C>A, NM_021226.4:c.795C>T, NM_021226.4:c.795C>A, NM_021226.3:c.795C>T, NM_021226.3:c.795C>A, NM_001256025.3:c.813C>T, NM_001256025.3:c.813C>A, NM_001256025.2:c.813C>T, NM_001256025.2:c.813C>A, NR_045675.2:n.1629C>T, NR_045675.2:n.1629C>A, NR_045675.1:n.1629C>T, NR_045675.1:n.1629C>A, NR_144643.2:n.1072C>T, NR_144643.2:n.1072C>A, NR_144643.1:n.1130C>T, NR_144643.1:n.1130C>A, NR_144642.2:n.1020C>T, NR_144642.2:n.1020C>A, NR_144642.1:n.1078C>T, NR_144642.1:n.1078C>A, NR_144644.2:n.943C>T, NR_144644.2:n.943C>A, NR_144644.1:n.1001C>T, NR_144644.1:n.1001C>A, NM_001347738.2:c.813C>T, NM_001347738.2:c.813C>A, NM_001347738.1:c.813C>T, NM_001347738.1:c.813C>A, NM_001256024.2:c.843C>T, NM_001256024.2:c.843C>A, NM_001256024.1:c.843C>T, NM_001256024.1:c.843C>A, NR_144645.2:n.1020C>T, NR_144645.2:n.1020C>A, NR_144645.1:n.1078C>T, NR_144645.1:n.1078C>A, NM_001347735.2:c.666C>T, NM_001347735.2:c.666C>A, NM_001347735.1:c.666C>T, NM_001347735.1:c.666C>A, NR_144646.2:n.864C>T, NR_144646.2:n.864C>A, NR_144646.1:n.922C>T, NR_144646.1:n.922C>A, NM_001256026.2:c.525C>T, NM_001256026.2:c.525C>A, NM_001256026.1:c.525C>T, NM_001256026.1:c.525C>A, XM_011540013.4:c.861C>T, XM_011540013.4:c.861C>A, XM_011540013.3:c.861C>T, XM_011540013.3:c.861C>A, XM_011540013.2:c.861C>T, XM_011540013.2:c.861C>A, XM_011540013.1:c.861C>T, XM_011540013.1:c.861C>A, XM_011540015.4:c.861C>T, XM_011540015.4:c.861C>A, XM_011540015.3:c.861C>T, XM_011540015.3:c.861C>A, XM_011540015.2:c.861C>T, XM_011540015.2:c.861C>A, XM_011540015.1:c.861C>T, XM_011540015.1:c.861C>A, XM_005270014.4:c.573C>T, XM_005270014.4:c.573C>A, XM_005270014.3:c.573C>T, XM_005270014.3:c.573C>A, XM_005270014.2:c.573C>T, XM_005270014.2:c.573C>A, XM_005270014.1:c.573C>T, XM_005270014.1:c.573C>A, XM_011540002.3:c.861C>T, XM_011540002.3:c.861C>A, XM_011540002.2:c.861C>T, XM_011540002.2:c.861C>A, XM_011540002.1:c.861C>T, XM_011540002.1:c.861C>A, XM_011540006.3:c.684C>T, XM_011540006.3:c.684C>A, XM_011540006.2:c.684C>T, XM_011540006.2:c.684C>A, XM_011540006.1:c.684C>T, XM_011540006.1:c.684C>A, XM_017016471.3:c.357C>T, XM_017016471.3:c.357C>A, XM_017016471.2:c.357C>T, XM_017016471.2:c.357C>A, XM_017016471.1:c.357C>T, XM_017016471.1:c.357C>A, XM_011540011.3:c.396C>T, XM_011540011.3:c.396C>A, XM_011540011.2:c.396C>T, XM_011540011.2:c.396C>A, XM_011540011.1:c.396C>T, XM_011540011.1:c.396C>A, XM_011540003.2:c.861C>T, XM_011540003.2:c.861C>A, XM_011540003.1:c.861C>T, XM_011540003.1:c.861C>A, XM_024448099.2:c.861C>T, XM_024448099.2:c.861C>A, XM_024448099.1:c.861C>T, XM_024448099.1:c.861C>A, XM_024448100.2:c.813C>T, XM_024448100.2:c.813C>A, XM_024448100.1:c.813C>T, XM_024448100.1:c.813C>A, XM_011540005.2:c.573C>T, XM_011540005.2:c.573C>A, XM_011540005.1:c.573C>T, XM_011540005.1:c.573C>A, XM_017016476.2:c.795C>T, XM_017016476.2:c.795C>A, XM_017016476.1:c.795C>T, XM_017016476.1:c.795C>A, XM_047425587.1:c.810C>T, XM_047425587.1:c.810C>A, XM_047425586.1:c.813C>T, XM_047425586.1:c.813C>A, XM_047425590.1:c.459C>T, XM_047425590.1:c.459C>A, XM_047425588.1:c.555C>T, XM_047425588.1:c.555C>A, XM_047425593.1:c.813C>T, XM_047425593.1:c.813C>A, XM_047425589.1:c.525C>T, XM_047425589.1:c.525C>A, NM_001256027.1:c.468C>T, NM_001256027.1:c.468C>A, XM_047425592.1:c.861C>T, XM_047425592.1:c.861C>A, XM_047425591.1:c.459C>T, XM_047425591.1:c.459C>A, XM_047425594.1:c.809C>T, XM_047425594.1:c.809C>A, XP_047281550.1:p.Ala270Val, XP_047281550.1:p.Ala270Glu

                      11.

                      rs1482398850 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:48450973 (GRCh38)
                        10:49659016 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:48450972:G:A
                        Gene:
                        ARHGAP22 (Varview)
                        Functional Consequence:
                        intron_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.00014/2 (TOMMO)
                        HGVS:
                        NC_000010.11:g.48450973G>A, NC_000010.10:g.49659016G>A, NG_053158.1:g.210293C>T, NM_021226.4:c.1156C>T, NM_021226.3:c.1156C>T, NM_001256025.3:c.1174C>T, NM_001256025.2:c.1174C>T, NR_045675.2:n.1990C>T, NR_045675.1:n.1990C>T, NR_144643.2:n.1900C>T, NR_144643.1:n.1958C>T, NR_144642.2:n.1848C>T, NR_144642.1:n.1906C>T, NR_144644.2:n.1771C>T, NR_144644.1:n.1829C>T, NM_001347738.2:c.1174C>T, NM_001347738.1:c.1174C>T, NM_001256024.2:c.1204C>T, NM_001256024.1:c.1204C>T, NR_144645.2:n.1381C>T, NR_144645.1:n.1439C>T, NM_001347735.2:c.1027C>T, NM_001347735.1:c.1027C>T, NR_144646.2:n.1225C>T, NR_144646.1:n.1283C>T, NM_001256026.2:c.886C>T, NM_001256026.1:c.886C>T, XM_005270014.4:c.934C>T, XM_005270014.3:c.934C>T, XM_005270014.2:c.934C>T, XM_005270014.1:c.934C>T, XM_011540002.3:c.1222C>T, XM_011540002.2:c.1222C>T, XM_011540002.1:c.1222C>T, XM_011540006.3:c.1045C>T, XM_011540006.2:c.1045C>T, XM_011540006.1:c.1045C>T, XM_017016471.3:c.718C>T, XM_017016471.2:c.718C>T, XM_017016471.1:c.718C>T, XM_011540011.3:c.757C>T, XM_011540011.2:c.757C>T, XM_011540011.1:c.757C>T, XM_011540003.2:c.1222C>T, XM_011540003.1:c.1222C>T, XM_024448099.2:c.1222C>T, XM_024448099.1:c.1222C>T, XM_011540005.2:c.934C>T, XM_011540005.1:c.934C>T, XM_047425587.1:c.1171C>T, XM_047425586.1:c.1174C>T, XM_047425590.1:c.820C>T, XM_047425588.1:c.916C>T, XM_047425589.1:c.886C>T, NM_001256027.1:c.829C>T, XM_047425591.1:c.820C>T, NP_067049.2:p.Pro386Ser, NP_001242954.1:p.Pro392Ser, NP_001334667.1:p.Pro392Ser, NP_001242953.1:p.Pro402Ser, NP_001334664.1:p.Pro343Ser, NP_001242955.1:p.Pro296Ser, XP_005270071.1:p.Pro312Ser, XP_011538304.1:p.Pro408Ser, XP_011538308.1:p.Pro349Ser, XP_016871960.1:p.Pro240Ser, XP_011538313.1:p.Pro253Ser, XP_011538305.1:p.Pro408Ser, XP_024303867.1:p.Pro408Ser, XP_011538307.1:p.Pro312Ser, XP_047281543.1:p.Pro391Ser, XP_047281542.1:p.Pro392Ser, XP_047281546.1:p.Pro274Ser, XP_047281544.1:p.Pro306Ser, XP_047281545.1:p.Pro296Ser, XP_047281547.1:p.Pro274Ser

                        12.

                        rs1481723701 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          10:48450969 (GRCh38)
                          10:49659012 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:48450968:C:A,NC_000010.11:48450968:C:T
                          Gene:
                          ARHGAP22 (Varview)
                          Functional Consequence:
                          intron_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000011/3 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000010.11:g.48450969C>A, NC_000010.11:g.48450969C>T, NC_000010.10:g.49659012C>A, NC_000010.10:g.49659012C>T, NG_053158.1:g.210297G>T, NG_053158.1:g.210297G>A, NM_021226.4:c.1160G>T, NM_021226.4:c.1160G>A, NM_021226.3:c.1160G>T, NM_021226.3:c.1160G>A, NM_001256025.3:c.1178G>T, NM_001256025.3:c.1178G>A, NM_001256025.2:c.1178G>T, NM_001256025.2:c.1178G>A, NR_045675.2:n.1994G>T, NR_045675.2:n.1994G>A, NR_045675.1:n.1994G>T, NR_045675.1:n.1994G>A, NR_144643.2:n.1904G>T, NR_144643.2:n.1904G>A, NR_144643.1:n.1962G>T, NR_144643.1:n.1962G>A, NR_144642.2:n.1852G>T, NR_144642.2:n.1852G>A, NR_144642.1:n.1910G>T, NR_144642.1:n.1910G>A, NR_144644.2:n.1775G>T, NR_144644.2:n.1775G>A, NR_144644.1:n.1833G>T, NR_144644.1:n.1833G>A, NM_001347738.2:c.1178G>T, NM_001347738.2:c.1178G>A, NM_001347738.1:c.1178G>T, NM_001347738.1:c.1178G>A, NM_001256024.2:c.1208G>T, NM_001256024.2:c.1208G>A, NM_001256024.1:c.1208G>T, NM_001256024.1:c.1208G>A, NR_144645.2:n.1385G>T, NR_144645.2:n.1385G>A, NR_144645.1:n.1443G>T, NR_144645.1:n.1443G>A, NM_001347735.2:c.1031G>T, NM_001347735.2:c.1031G>A, NM_001347735.1:c.1031G>T, NM_001347735.1:c.1031G>A, NR_144646.2:n.1229G>T, NR_144646.2:n.1229G>A, NR_144646.1:n.1287G>T, NR_144646.1:n.1287G>A, NM_001256026.2:c.890G>T, NM_001256026.2:c.890G>A, NM_001256026.1:c.890G>T, NM_001256026.1:c.890G>A, XM_005270014.4:c.938G>T, XM_005270014.4:c.938G>A, XM_005270014.3:c.938G>T, XM_005270014.3:c.938G>A, XM_005270014.2:c.938G>T, XM_005270014.2:c.938G>A, XM_005270014.1:c.938G>T, XM_005270014.1:c.938G>A, XM_011540002.3:c.1226G>T, XM_011540002.3:c.1226G>A, XM_011540002.2:c.1226G>T, XM_011540002.2:c.1226G>A, XM_011540002.1:c.1226G>T, XM_011540002.1:c.1226G>A, XM_011540006.3:c.1049G>T, XM_011540006.3:c.1049G>A, XM_011540006.2:c.1049G>T, XM_011540006.2:c.1049G>A, XM_011540006.1:c.1049G>T, XM_011540006.1:c.1049G>A, XM_017016471.3:c.722G>T, XM_017016471.3:c.722G>A, XM_017016471.2:c.722G>T, XM_017016471.2:c.722G>A, XM_017016471.1:c.722G>T, XM_017016471.1:c.722G>A, XM_011540011.3:c.761G>T, XM_011540011.3:c.761G>A, XM_011540011.2:c.761G>T, XM_011540011.2:c.761G>A, XM_011540011.1:c.761G>T, XM_011540011.1:c.761G>A, XM_011540003.2:c.1226G>T, XM_011540003.2:c.1226G>A, XM_011540003.1:c.1226G>T, XM_011540003.1:c.1226G>A, XM_024448099.2:c.1226G>T, XM_024448099.2:c.1226G>A, XM_024448099.1:c.1226G>T, XM_024448099.1:c.1226G>A, XM_011540005.2:c.938G>T, XM_011540005.2:c.938G>A, XM_011540005.1:c.938G>T, XM_011540005.1:c.938G>A, XM_047425587.1:c.1175G>T, XM_047425587.1:c.1175G>A, XM_047425586.1:c.1178G>T, XM_047425586.1:c.1178G>A, XM_047425590.1:c.824G>T, XM_047425590.1:c.824G>A, XM_047425588.1:c.920G>T, XM_047425588.1:c.920G>A, XM_047425589.1:c.890G>T, XM_047425589.1:c.890G>A, NM_001256027.1:c.833G>T, NM_001256027.1:c.833G>A, XM_047425591.1:c.824G>T, XM_047425591.1:c.824G>A, NP_067049.2:p.Gly387Val, NP_067049.2:p.Gly387Asp, NP_001242954.1:p.Gly393Val, NP_001242954.1:p.Gly393Asp, NP_001334667.1:p.Gly393Val, NP_001334667.1:p.Gly393Asp, NP_001242953.1:p.Gly403Val, NP_001242953.1:p.Gly403Asp, NP_001334664.1:p.Gly344Val, NP_001334664.1:p.Gly344Asp, NP_001242955.1:p.Gly297Val, NP_001242955.1:p.Gly297Asp, XP_005270071.1:p.Gly313Val, XP_005270071.1:p.Gly313Asp, XP_011538304.1:p.Gly409Val, XP_011538304.1:p.Gly409Asp, XP_011538308.1:p.Gly350Val, XP_011538308.1:p.Gly350Asp, XP_016871960.1:p.Gly241Val, XP_016871960.1:p.Gly241Asp, XP_011538313.1:p.Gly254Val, XP_011538313.1:p.Gly254Asp, XP_011538305.1:p.Gly409Val, XP_011538305.1:p.Gly409Asp, XP_024303867.1:p.Gly409Val, XP_024303867.1:p.Gly409Asp, XP_011538307.1:p.Gly313Val, XP_011538307.1:p.Gly313Asp, XP_047281543.1:p.Gly392Val, XP_047281543.1:p.Gly392Asp, XP_047281542.1:p.Gly393Val, XP_047281542.1:p.Gly393Asp, XP_047281546.1:p.Gly275Val, XP_047281546.1:p.Gly275Asp, XP_047281544.1:p.Gly307Val, XP_047281544.1:p.Gly307Asp, XP_047281545.1:p.Gly297Val, XP_047281545.1:p.Gly297Asp, XP_047281547.1:p.Gly275Val, XP_047281547.1:p.Gly275Asp

                          13.

                          rs1480172167 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:48459884 (GRCh38)
                            10:49667927 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:48459883:A:G
                            Gene:
                            ARHGAP22 (Varview)
                            Functional Consequence:
                            intron_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000031/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.48459884A>G, NC_000010.10:g.49667927A>G, NG_053158.1:g.201382T>C, NM_021226.4:c.459T>C, NM_021226.3:c.459T>C, NM_001256025.3:c.477T>C, NM_001256025.2:c.477T>C, NR_045675.2:n.1345T>C, NR_045675.1:n.1345T>C, NR_144643.2:n.736T>C, NR_144643.1:n.794T>C, NR_144642.2:n.736T>C, NR_144642.1:n.794T>C, NR_144644.2:n.607T>C, NR_144644.1:n.665T>C, NM_001347738.2:c.477T>C, NM_001347738.1:c.477T>C, NM_001256024.2:c.507T>C, NM_001256024.1:c.507T>C, NR_144645.2:n.736T>C, NR_144645.1:n.794T>C, NM_001347735.2:c.330T>C, NM_001347735.1:c.330T>C, NM_001256026.2:c.189T>C, NM_001256026.1:c.189T>C, XM_011540013.4:c.525T>C, XM_011540013.3:c.525T>C, XM_011540013.2:c.525T>C, XM_011540013.1:c.525T>C, XM_011540015.4:c.525T>C, XM_011540015.3:c.525T>C, XM_011540015.2:c.525T>C, XM_011540015.1:c.525T>C, XM_005270014.4:c.237T>C, XM_005270014.3:c.237T>C, XM_005270014.2:c.237T>C, XM_005270014.1:c.237T>C, XM_011540002.3:c.525T>C, XM_011540002.2:c.525T>C, XM_011540002.1:c.525T>C, XM_011540006.3:c.348T>C, XM_011540006.2:c.348T>C, XM_011540006.1:c.348T>C, XM_017016471.3:c.21T>C, XM_017016471.2:c.21T>C, XM_017016471.1:c.21T>C, XM_011540011.3:c.60T>C, XM_011540011.2:c.60T>C, XM_011540011.1:c.60T>C, XM_011540003.2:c.525T>C, XM_011540003.1:c.525T>C, XM_024448099.2:c.525T>C, XM_024448099.1:c.525T>C, XM_024448100.2:c.477T>C, XM_024448100.1:c.477T>C, XM_011540005.2:c.237T>C, XM_011540005.1:c.237T>C, XM_017016476.2:c.459T>C, XM_017016476.1:c.459T>C, XM_047425587.1:c.474T>C, XM_047425586.1:c.477T>C, XM_047425590.1:c.123T>C, XM_047425588.1:c.219T>C, XM_047425593.1:c.477T>C, XM_047425589.1:c.189T>C, NM_001256027.1:c.132T>C, XM_047425592.1:c.525T>C, XM_047425591.1:c.123T>C, XM_047425594.1:c.525T>C

                            14.

                            rs1479805702 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:48446491 (GRCh38)
                              10:49654534 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:48446490:G:A
                              Gene:
                              ARHGAP22 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000010.11:g.48446491G>A, NC_000010.10:g.49654534G>A, NG_053158.1:g.214775C>T, NM_021226.4:c.1997C>T, NM_021226.3:c.1997C>T, NM_001256025.3:c.2015C>T, NM_001256025.2:c.2015C>T, NR_045675.2:n.2831C>T, NR_045675.1:n.2831C>T, NR_144643.2:n.2741C>T, NR_144643.1:n.2799C>T, NR_144642.2:n.2689C>T, NR_144642.1:n.2747C>T, NR_144644.2:n.2612C>T, NR_144644.1:n.2670C>T, NM_001347738.2:c.2015C>T, NM_001347738.1:c.2015C>T, NM_001256024.2:c.2045C>T, NM_001256024.1:c.2045C>T, NR_144645.2:n.2222C>T, NR_144645.1:n.2280C>T, NM_001347735.2:c.1868C>T, NM_001347735.1:c.1868C>T, NR_144646.2:n.2066C>T, NR_144646.1:n.2124C>T, NM_001256026.2:c.1727C>T, NM_001256026.1:c.1727C>T, XM_011540015.4:c.*103C>T, XM_011540015.3:c.*103C>T, XM_011540015.2:c.*103C>T, XM_011540015.1:c.*103C>T, XM_005270014.4:c.1775C>T, XM_005270014.3:c.1775C>T, XM_005270014.2:c.1775C>T, XM_005270014.1:c.1775C>T, XM_011540002.3:c.2063C>T, XM_011540002.2:c.2063C>T, XM_011540002.1:c.2063C>T, XM_011540006.3:c.1886C>T, XM_011540006.2:c.1886C>T, XM_011540006.1:c.1886C>T, XM_017016471.3:c.1559C>T, XM_017016471.2:c.1559C>T, XM_017016471.1:c.1559C>T, XM_011540011.3:c.1598C>T, XM_011540011.2:c.1598C>T, XM_011540011.1:c.1598C>T, XM_011540003.2:c.2063C>T, XM_011540003.1:c.2063C>T, XM_024448099.2:c.2063C>T, XM_024448099.1:c.2063C>T, XM_011540005.2:c.1775C>T, XM_011540005.1:c.1775C>T, XM_047425587.1:c.2012C>T, XM_047425586.1:c.2015C>T, XM_047425590.1:c.1661C>T, XM_047425588.1:c.1757C>T, XM_047425589.1:c.1727C>T, NM_001256027.1:c.1670C>T, XM_047425591.1:c.1661C>T, NP_067049.2:p.Ala666Val, NP_001242954.1:p.Ala672Val, NP_001334667.1:p.Ala672Val, NP_001242953.1:p.Ala682Val, NP_001334664.1:p.Ala623Val, NP_001242955.1:p.Ala576Val, XP_005270071.1:p.Ala592Val, XP_011538304.1:p.Ala688Val, XP_011538308.1:p.Ala629Val, XP_016871960.1:p.Ala520Val, XP_011538313.1:p.Ala533Val, XP_011538305.1:p.Ala688Val, XP_024303867.1:p.Ala688Val, XP_011538307.1:p.Ala592Val, XP_047281543.1:p.Ala671Val, XP_047281542.1:p.Ala672Val, XP_047281546.1:p.Ala554Val, XP_047281544.1:p.Ala586Val, XP_047281545.1:p.Ala576Val, XP_047281547.1:p.Ala554Val

                              15.

                              rs1479756076 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                10:48450539 (GRCh38)
                                10:49658582 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:48450538:C:A,NC_000010.11:48450538:C:T
                                Gene:
                                ARHGAP22 (Varview)
                                Functional Consequence:
                                intron_variant,downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000010.11:g.48450539C>A, NC_000010.11:g.48450539C>T, NC_000010.10:g.49658582C>A, NC_000010.10:g.49658582C>T, NG_053158.1:g.210727G>T, NG_053158.1:g.210727G>A, NM_021226.4:c.1590G>T, NM_021226.4:c.1590G>A, NM_021226.3:c.1590G>T, NM_021226.3:c.1590G>A, NM_001256025.3:c.1608G>T, NM_001256025.3:c.1608G>A, NM_001256025.2:c.1608G>T, NM_001256025.2:c.1608G>A, NR_045675.2:n.2424G>T, NR_045675.2:n.2424G>A, NR_045675.1:n.2424G>T, NR_045675.1:n.2424G>A, NR_144643.2:n.2334G>T, NR_144643.2:n.2334G>A, NR_144643.1:n.2392G>T, NR_144643.1:n.2392G>A, NR_144642.2:n.2282G>T, NR_144642.2:n.2282G>A, NR_144642.1:n.2340G>T, NR_144642.1:n.2340G>A, NR_144644.2:n.2205G>T, NR_144644.2:n.2205G>A, NR_144644.1:n.2263G>T, NR_144644.1:n.2263G>A, NM_001347738.2:c.1608G>T, NM_001347738.2:c.1608G>A, NM_001347738.1:c.1608G>T, NM_001347738.1:c.1608G>A, NM_001256024.2:c.1638G>T, NM_001256024.2:c.1638G>A, NM_001256024.1:c.1638G>T, NM_001256024.1:c.1638G>A, NR_144645.2:n.1815G>T, NR_144645.2:n.1815G>A, NR_144645.1:n.1873G>T, NR_144645.1:n.1873G>A, NM_001347735.2:c.1461G>T, NM_001347735.2:c.1461G>A, NM_001347735.1:c.1461G>T, NM_001347735.1:c.1461G>A, NR_144646.2:n.1659G>T, NR_144646.2:n.1659G>A, NR_144646.1:n.1717G>T, NR_144646.1:n.1717G>A, NM_001256026.2:c.1320G>T, NM_001256026.2:c.1320G>A, NM_001256026.1:c.1320G>T, NM_001256026.1:c.1320G>A, XM_005270014.4:c.1368G>T, XM_005270014.4:c.1368G>A, XM_005270014.3:c.1368G>T, XM_005270014.3:c.1368G>A, XM_005270014.2:c.1368G>T, XM_005270014.2:c.1368G>A, XM_005270014.1:c.1368G>T, XM_005270014.1:c.1368G>A, XM_011540002.3:c.1656G>T, XM_011540002.3:c.1656G>A, XM_011540002.2:c.1656G>T, XM_011540002.2:c.1656G>A, XM_011540002.1:c.1656G>T, XM_011540002.1:c.1656G>A, XM_011540006.3:c.1479G>T, XM_011540006.3:c.1479G>A, XM_011540006.2:c.1479G>T, XM_011540006.2:c.1479G>A, XM_011540006.1:c.1479G>T, XM_011540006.1:c.1479G>A, XM_017016471.3:c.1152G>T, XM_017016471.3:c.1152G>A, XM_017016471.2:c.1152G>T, XM_017016471.2:c.1152G>A, XM_017016471.1:c.1152G>T, XM_017016471.1:c.1152G>A, XM_011540011.3:c.1191G>T, XM_011540011.3:c.1191G>A, XM_011540011.2:c.1191G>T, XM_011540011.2:c.1191G>A, XM_011540011.1:c.1191G>T, XM_011540011.1:c.1191G>A, XM_011540003.2:c.1656G>T, XM_011540003.2:c.1656G>A, XM_011540003.1:c.1656G>T, XM_011540003.1:c.1656G>A, XM_024448099.2:c.1656G>T, XM_024448099.2:c.1656G>A, XM_024448099.1:c.1656G>T, XM_024448099.1:c.1656G>A, XM_011540005.2:c.1368G>T, XM_011540005.2:c.1368G>A, XM_011540005.1:c.1368G>T, XM_011540005.1:c.1368G>A, XM_047425587.1:c.1605G>T, XM_047425587.1:c.1605G>A, XM_047425586.1:c.1608G>T, XM_047425586.1:c.1608G>A, XM_047425590.1:c.1254G>T, XM_047425590.1:c.1254G>A, XM_047425588.1:c.1350G>T, XM_047425588.1:c.1350G>A, XM_047425589.1:c.1320G>T, XM_047425589.1:c.1320G>A, NM_001256027.1:c.1263G>T, NM_001256027.1:c.1263G>A, XM_047425591.1:c.1254G>T, XM_047425591.1:c.1254G>A

                                16.

                                rs1479388612 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GTTGGCCTGGCCTGGCATGCGGAACAG>- [Show Flanks]
                                  Chromosome:
                                  10:48459740 (GRCh38)
                                  10:49667783 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:48459736:CAGGTTGGCCTGGCCTGGCATGCGGAACAG:CAG
                                  Gene:
                                  ARHGAP22 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,inframe_deletion
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CAG=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.48459740_48459766del, NC_000010.10:g.49667783_49667809del, NG_053158.1:g.201503_201529del, NM_021226.4:c.580_606del, NM_021226.3:c.580_606del, NM_001256025.3:c.598_624del, NM_001256025.2:c.598_624del, NR_045675.2:n.1466_1492del, NR_045675.1:n.1466_1492del, NR_144643.2:n.857_883del, NR_144643.1:n.915_941del, NR_144642.2:n.857_883del, NR_144642.1:n.915_941del, NR_144644.2:n.728_754del, NR_144644.1:n.786_812del, NM_001347738.2:c.598_624del, NM_001347738.1:c.598_624del, NM_001256024.2:c.628_654del, NM_001256024.1:c.628_654del, NR_144645.2:n.857_883del, NR_144645.1:n.915_941del, NM_001347735.2:c.451_477del, NM_001347735.1:c.451_477del, NM_001256026.2:c.310_336del, NM_001256026.1:c.310_336del, XM_011540013.4:c.646_672del, XM_011540013.3:c.646_672del, XM_011540013.2:c.646_672del, XM_011540013.1:c.646_672del, XM_011540015.4:c.646_672del, XM_011540015.3:c.646_672del, XM_011540015.2:c.646_672del, XM_011540015.1:c.646_672del, XM_005270014.4:c.358_384del, XM_005270014.3:c.358_384del, XM_005270014.2:c.358_384del, XM_005270014.1:c.358_384del, XM_011540002.3:c.646_672del, XM_011540002.2:c.646_672del, XM_011540002.1:c.646_672del, XM_011540006.3:c.469_495del, XM_011540006.2:c.469_495del, XM_011540006.1:c.469_495del, XM_017016471.3:c.142_168del, XM_017016471.2:c.142_168del, XM_017016471.1:c.142_168del, XM_011540011.3:c.181_207del, XM_011540011.2:c.181_207del, XM_011540011.1:c.181_207del, XM_011540003.2:c.646_672del, XM_011540003.1:c.646_672del, XM_024448099.2:c.646_672del, XM_024448099.1:c.646_672del, XM_024448100.2:c.598_624del, XM_024448100.1:c.598_624del, XM_011540005.2:c.358_384del, XM_011540005.1:c.358_384del, XM_017016476.2:c.580_606del, XM_017016476.1:c.580_606del, XM_047425587.1:c.595_621del, XM_047425586.1:c.598_624del, XM_047425590.1:c.244_270del, XM_047425588.1:c.340_366del, XM_047425593.1:c.598_624del, XM_047425589.1:c.310_336del, NM_001256027.1:c.253_279del, XM_047425592.1:c.646_672del, XM_047425591.1:c.244_270del, XM_047425594.1:c.646_672del, NP_067049.2:p.Phe194_Leu202del, NP_001242954.1:p.Phe200_Leu208del, NP_001334667.1:p.Phe200_Leu208del, NP_001242953.1:p.Phe210_Leu218del, NP_001334664.1:p.Phe151_Leu159del, NP_001242955.1:p.Phe104_Leu112del, XP_011538315.1:p.Phe216_Leu224del, XP_011538317.1:p.Phe216_Leu224del, XP_005270071.1:p.Phe120_Leu128del, XP_011538304.1:p.Phe216_Leu224del, XP_011538308.1:p.Phe157_Leu165del, XP_016871960.1:p.Phe48_Leu56del, XP_011538313.1:p.Phe61_Leu69del, XP_011538305.1:p.Phe216_Leu224del, XP_024303867.1:p.Phe216_Leu224del, XP_024303868.1:p.Phe200_Leu208del, XP_011538307.1:p.Phe120_Leu128del, XP_016871965.1:p.Phe194_Leu202del, XP_047281543.1:p.Phe199_Leu207del, XP_047281542.1:p.Phe200_Leu208del, XP_047281546.1:p.Phe82_Leu90del, XP_047281544.1:p.Phe114_Leu122del, XP_047281549.1:p.Phe200_Leu208del, XP_047281545.1:p.Phe104_Leu112del, XP_047281548.1:p.Phe216_Leu224del, XP_047281547.1:p.Phe82_Leu90del, XP_047281550.1:p.Phe216_Leu224del

                                  17.

                                  rs1478657484 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    10:48450923 (GRCh38)
                                    10:49658966 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:48450922:C:T
                                    Gene:
                                    ARHGAP22 (Varview)
                                    Functional Consequence:
                                    intron_variant,downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.48450923C>T, NC_000010.10:g.49658966C>T, NG_053158.1:g.210343G>A, NM_021226.4:c.1206G>A, NM_021226.3:c.1206G>A, NM_001256025.3:c.1224G>A, NM_001256025.2:c.1224G>A, NR_045675.2:n.2040G>A, NR_045675.1:n.2040G>A, NR_144643.2:n.1950G>A, NR_144643.1:n.2008G>A, NR_144642.2:n.1898G>A, NR_144642.1:n.1956G>A, NR_144644.2:n.1821G>A, NR_144644.1:n.1879G>A, NM_001347738.2:c.1224G>A, NM_001347738.1:c.1224G>A, NM_001256024.2:c.1254G>A, NM_001256024.1:c.1254G>A, NR_144645.2:n.1431G>A, NR_144645.1:n.1489G>A, NM_001347735.2:c.1077G>A, NM_001347735.1:c.1077G>A, NR_144646.2:n.1275G>A, NR_144646.1:n.1333G>A, NM_001256026.2:c.936G>A, NM_001256026.1:c.936G>A, XM_005270014.4:c.984G>A, XM_005270014.3:c.984G>A, XM_005270014.2:c.984G>A, XM_005270014.1:c.984G>A, XM_011540002.3:c.1272G>A, XM_011540002.2:c.1272G>A, XM_011540002.1:c.1272G>A, XM_011540006.3:c.1095G>A, XM_011540006.2:c.1095G>A, XM_011540006.1:c.1095G>A, XM_017016471.3:c.768G>A, XM_017016471.2:c.768G>A, XM_017016471.1:c.768G>A, XM_011540011.3:c.807G>A, XM_011540011.2:c.807G>A, XM_011540011.1:c.807G>A, XM_011540003.2:c.1272G>A, XM_011540003.1:c.1272G>A, XM_024448099.2:c.1272G>A, XM_024448099.1:c.1272G>A, XM_011540005.2:c.984G>A, XM_011540005.1:c.984G>A, XM_047425587.1:c.1221G>A, XM_047425586.1:c.1224G>A, XM_047425590.1:c.870G>A, XM_047425588.1:c.966G>A, XM_047425589.1:c.936G>A, NM_001256027.1:c.879G>A, XM_047425591.1:c.870G>A

                                    18.

                                    rs1476232024 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      10:48479630 (GRCh38)
                                      10:49687673 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:48479629:C:A,NC_000010.11:48479629:C:G
                                      Gene:
                                      ARHGAP22 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.48479630C>A, NC_000010.11:g.48479630C>G, NC_000010.10:g.49687673C>A, NC_000010.10:g.49687673C>G, NG_053158.1:g.181636G>T, NG_053158.1:g.181636G>C, NM_001256024.2:c.457G>T, NM_001256024.2:c.457G>C, NM_001256024.1:c.457G>T, NM_001256024.1:c.457G>C, XM_011540013.4:c.475G>T, XM_011540013.4:c.475G>C, XM_011540013.3:c.475G>T, XM_011540013.3:c.475G>C, XM_011540013.2:c.475G>T, XM_011540013.2:c.475G>C, XM_011540013.1:c.475G>T, XM_011540013.1:c.475G>C, XM_011540015.4:c.475G>T, XM_011540015.4:c.475G>C, XM_011540015.3:c.475G>T, XM_011540015.3:c.475G>C, XM_011540015.2:c.475G>T, XM_011540015.2:c.475G>C, XM_011540015.1:c.475G>T, XM_011540015.1:c.475G>C, XM_005270014.4:c.187G>T, XM_005270014.4:c.187G>C, XM_005270014.3:c.187G>T, XM_005270014.3:c.187G>C, XM_005270014.2:c.187G>T, XM_005270014.2:c.187G>C, XM_005270014.1:c.187G>T, XM_005270014.1:c.187G>C, XM_011540002.3:c.475G>T, XM_011540002.3:c.475G>C, XM_011540002.2:c.475G>T, XM_011540002.2:c.475G>C, XM_011540002.1:c.475G>T, XM_011540002.1:c.475G>C, XM_011540003.2:c.475G>T, XM_011540003.2:c.475G>C, XM_011540003.1:c.475G>T, XM_011540003.1:c.475G>C, XM_024448099.2:c.475G>T, XM_024448099.2:c.475G>C, XM_024448099.1:c.475G>T, XM_024448099.1:c.475G>C, XM_011540005.2:c.187G>T, XM_011540005.2:c.187G>C, XM_011540005.1:c.187G>T, XM_011540005.1:c.187G>C, NM_001256027.1:c.82G>T, NM_001256027.1:c.82G>C, XM_047425592.1:c.475G>T, XM_047425592.1:c.475G>C, XM_047425594.1:c.475G>T, XM_047425594.1:c.475G>C, NP_001242953.1:p.Ala153Ser, NP_001242953.1:p.Ala153Pro, XP_011538315.1:p.Ala159Ser, XP_011538315.1:p.Ala159Pro, XP_011538317.1:p.Ala159Ser, XP_011538317.1:p.Ala159Pro, XP_005270071.1:p.Ala63Ser, XP_005270071.1:p.Ala63Pro, XP_011538304.1:p.Ala159Ser, XP_011538304.1:p.Ala159Pro, XP_011538305.1:p.Ala159Ser, XP_011538305.1:p.Ala159Pro, XP_024303867.1:p.Ala159Ser, XP_024303867.1:p.Ala159Pro, XP_011538307.1:p.Ala63Ser, XP_011538307.1:p.Ala63Pro, XP_047281548.1:p.Ala159Ser, XP_047281548.1:p.Ala159Pro, XP_047281550.1:p.Ala159Ser, XP_047281550.1:p.Ala159Pro

                                      19.

                                      rs1475483877 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        10:48450721 (GRCh38)
                                        10:49658764 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:48450720:C:T
                                        Gene:
                                        ARHGAP22 (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000019/3 (GnomAD_exomes)
                                        T=0.000343/1 (KOREAN)
                                        HGVS:
                                        NC_000010.11:g.48450721C>T, NC_000010.10:g.49658764C>T, NG_053158.1:g.210545G>A, NM_021226.4:c.1408G>A, NM_021226.3:c.1408G>A, NM_001256025.3:c.1426G>A, NM_001256025.2:c.1426G>A, NR_045675.2:n.2242G>A, NR_045675.1:n.2242G>A, NR_144643.2:n.2152G>A, NR_144643.1:n.2210G>A, NR_144642.2:n.2100G>A, NR_144642.1:n.2158G>A, NR_144644.2:n.2023G>A, NR_144644.1:n.2081G>A, NM_001347738.2:c.1426G>A, NM_001347738.1:c.1426G>A, NM_001256024.2:c.1456G>A, NM_001256024.1:c.1456G>A, NR_144645.2:n.1633G>A, NR_144645.1:n.1691G>A, NM_001347735.2:c.1279G>A, NM_001347735.1:c.1279G>A, NR_144646.2:n.1477G>A, NR_144646.1:n.1535G>A, NM_001256026.2:c.1138G>A, NM_001256026.1:c.1138G>A, XM_005270014.4:c.1186G>A, XM_005270014.3:c.1186G>A, XM_005270014.2:c.1186G>A, XM_005270014.1:c.1186G>A, XM_011540002.3:c.1474G>A, XM_011540002.2:c.1474G>A, XM_011540002.1:c.1474G>A, XM_011540006.3:c.1297G>A, XM_011540006.2:c.1297G>A, XM_011540006.1:c.1297G>A, XM_017016471.3:c.970G>A, XM_017016471.2:c.970G>A, XM_017016471.1:c.970G>A, XM_011540011.3:c.1009G>A, XM_011540011.2:c.1009G>A, XM_011540011.1:c.1009G>A, XM_011540003.2:c.1474G>A, XM_011540003.1:c.1474G>A, XM_024448099.2:c.1474G>A, XM_024448099.1:c.1474G>A, XM_011540005.2:c.1186G>A, XM_011540005.1:c.1186G>A, XM_047425587.1:c.1423G>A, XM_047425586.1:c.1426G>A, XM_047425590.1:c.1072G>A, XM_047425588.1:c.1168G>A, XM_047425589.1:c.1138G>A, NM_001256027.1:c.1081G>A, XM_047425591.1:c.1072G>A, NP_067049.2:p.Gly470Arg, NP_001242954.1:p.Gly476Arg, NP_001334667.1:p.Gly476Arg, NP_001242953.1:p.Gly486Arg, NP_001334664.1:p.Gly427Arg, NP_001242955.1:p.Gly380Arg, XP_005270071.1:p.Gly396Arg, XP_011538304.1:p.Gly492Arg, XP_011538308.1:p.Gly433Arg, XP_016871960.1:p.Gly324Arg, XP_011538313.1:p.Gly337Arg, XP_011538305.1:p.Gly492Arg, XP_024303867.1:p.Gly492Arg, XP_011538307.1:p.Gly396Arg, XP_047281543.1:p.Gly475Arg, XP_047281542.1:p.Gly476Arg, XP_047281546.1:p.Gly358Arg, XP_047281544.1:p.Gly390Arg, XP_047281545.1:p.Gly380Arg, XP_047281547.1:p.Gly358Arg

                                        20.

                                        rs1475147478 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          10:48450507 (GRCh38)
                                          10:49658550 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:48450506:C:A
                                          Gene:
                                          ARHGAP22 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000015/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000010.11:g.48450507C>A, NC_000010.10:g.49658550C>A, NG_053158.1:g.210759G>T, NM_021226.4:c.1622G>T, NM_021226.3:c.1622G>T, NM_001256025.3:c.1640G>T, NM_001256025.2:c.1640G>T, NR_045675.2:n.2456G>T, NR_045675.1:n.2456G>T, NR_144643.2:n.2366G>T, NR_144643.1:n.2424G>T, NR_144642.2:n.2314G>T, NR_144642.1:n.2372G>T, NR_144644.2:n.2237G>T, NR_144644.1:n.2295G>T, NM_001347738.2:c.1640G>T, NM_001347738.1:c.1640G>T, NM_001256024.2:c.1670G>T, NM_001256024.1:c.1670G>T, NR_144645.2:n.1847G>T, NR_144645.1:n.1905G>T, NM_001347735.2:c.1493G>T, NM_001347735.1:c.1493G>T, NR_144646.2:n.1691G>T, NR_144646.1:n.1749G>T, NM_001256026.2:c.1352G>T, NM_001256026.1:c.1352G>T, XM_005270014.4:c.1400G>T, XM_005270014.3:c.1400G>T, XM_005270014.2:c.1400G>T, XM_005270014.1:c.1400G>T, XM_011540002.3:c.1688G>T, XM_011540002.2:c.1688G>T, XM_011540002.1:c.1688G>T, XM_011540006.3:c.1511G>T, XM_011540006.2:c.1511G>T, XM_011540006.1:c.1511G>T, XM_017016471.3:c.1184G>T, XM_017016471.2:c.1184G>T, XM_017016471.1:c.1184G>T, XM_011540011.3:c.1223G>T, XM_011540011.2:c.1223G>T, XM_011540011.1:c.1223G>T, XM_011540003.2:c.1688G>T, XM_011540003.1:c.1688G>T, XM_024448099.2:c.1688G>T, XM_024448099.1:c.1688G>T, XM_011540005.2:c.1400G>T, XM_011540005.1:c.1400G>T, XM_047425587.1:c.1637G>T, XM_047425586.1:c.1640G>T, XM_047425590.1:c.1286G>T, XM_047425588.1:c.1382G>T, XM_047425589.1:c.1352G>T, NM_001256027.1:c.1295G>T, XM_047425591.1:c.1286G>T, NP_067049.2:p.Ser541Ile, NP_001242954.1:p.Ser547Ile, NP_001334667.1:p.Ser547Ile, NP_001242953.1:p.Ser557Ile, NP_001334664.1:p.Ser498Ile, NP_001242955.1:p.Ser451Ile, XP_005270071.1:p.Ser467Ile, XP_011538304.1:p.Ser563Ile, XP_011538308.1:p.Ser504Ile, XP_016871960.1:p.Ser395Ile, XP_011538313.1:p.Ser408Ile, XP_011538305.1:p.Ser563Ile, XP_024303867.1:p.Ser563Ile, XP_011538307.1:p.Ser467Ile, XP_047281543.1:p.Ser546Ile, XP_047281542.1:p.Ser547Ile, XP_047281546.1:p.Ser429Ile, XP_047281544.1:p.Ser461Ile, XP_047281545.1:p.Ser451Ile, XP_047281547.1:p.Ser429Ile

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