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Items: 1 to 20 of 1089

1.

rs1490629745 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    11:76496437 (GRCh38)
    11:76207481 (GRCh37)
    Canonical SPDI:
    NC_000011.10:76496436:T:A
    Gene:
    EMSY (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000011.10:g.76496437T>A, NC_000011.9:g.76207481T>A, XM_005274112.6:c.1223T>A, XM_005274112.5:c.1223T>A, XM_005274112.4:c.1223T>A, XM_005274112.3:c.1223T>A, XM_005274112.2:c.1223T>A, XM_005274112.1:c.1223T>A, NM_020193.5:c.1331T>A, NM_020193.4:c.1331T>A, NM_020193.3:c.1331T>A, XM_006718638.5:c.1334T>A, XM_006718638.4:c.1334T>A, XM_006718638.3:c.1334T>A, XM_006718638.2:c.1334T>A, XM_006718638.1:c.1334T>A, XM_006718637.5:c.1376T>A, XM_006718637.4:c.1376T>A, XM_006718637.3:c.1376T>A, XM_006718637.2:c.1376T>A, XM_006718637.1:c.1376T>A, NM_001300942.2:c.1376T>A, NM_001300942.1:c.1376T>A, NM_001300944.2:c.1376T>A, NM_001300944.1:c.1376T>A, NM_001300943.2:c.1334T>A, NM_001300943.1:c.1334T>A, XM_047427269.1:c.1376T>A, XM_047427273.1:c.1376T>A, XM_047427272.1:c.1334T>A, XM_047427274.1:c.1331T>A, XM_047427267.1:c.1373T>A, XM_047427275.1:c.1334T>A, XM_047427268.1:c.1373T>A, XM_047427280.1:c.1223T>A, XM_047427271.1:c.1331T>A, XM_047427286.1:c.1181T>A, XM_047427289.1:c.1334T>A, XM_047427276.1:c.1223T>A, XM_047427290.1:c.1181T>A, XM_047427277.1:c.1376T>A, XM_047427278.1:c.1373T>A, XM_047427279.1:c.1181T>A, XM_047427282.1:c.1376T>A, XM_047427281.1:c.1334T>A, XM_047427284.1:c.1373T>A, XM_047427283.1:c.1331T>A, XM_047427285.1:c.1181T>A, XM_047427287.1:c.1334T>A, XM_047427288.1:c.1331T>A, XM_047427297.1:c.1376T>A, XM_047427291.1:c.1223T>A, XM_047427293.1:c.1223T>A, XM_047427292.1:c.1181T>A, XM_047427294.1:c.1373T>A, XM_047427295.1:c.1181T>A, XM_047427296.1:c.1334T>A, XM_047427298.1:c.1376T>A, XM_047427300.1:c.1376T>A, XM_047427299.1:c.1334T>A, XM_047427301.1:c.1331T>A, XM_047427302.1:c.1334T>A, XM_047427303.1:c.1331T>A, XM_047427304.1:c.1223T>A, XM_047427306.1:c.1223T>A, XM_047427305.1:c.1181T>A, XM_047427307.1:c.1334T>A, XM_047427310.1:c.1376T>A, XM_047427308.1:c.1334T>A, XM_047427309.1:c.1181T>A, XP_005274169.1:p.Ile408Asn, NP_064578.2:p.Ile444Asn, XP_006718701.1:p.Ile445Asn, XP_006718700.1:p.Ile459Asn, NP_001287871.1:p.Ile459Asn, NP_001287873.1:p.Ile459Asn, NP_001287872.1:p.Ile445Asn, XP_047283225.1:p.Ile459Asn, XP_047283229.1:p.Ile459Asn, XP_047283228.1:p.Ile445Asn, XP_047283230.1:p.Ile444Asn, XP_047283223.1:p.Ile458Asn, XP_047283231.1:p.Ile445Asn, XP_047283224.1:p.Ile458Asn, XP_047283236.1:p.Ile408Asn, XP_047283227.1:p.Ile444Asn, XP_047283242.1:p.Ile394Asn, XP_047283245.1:p.Ile445Asn, XP_047283232.1:p.Ile408Asn, XP_047283246.1:p.Ile394Asn, XP_047283233.1:p.Ile459Asn, XP_047283234.1:p.Ile458Asn, XP_047283235.1:p.Ile394Asn, XP_047283238.1:p.Ile459Asn, XP_047283237.1:p.Ile445Asn, XP_047283240.1:p.Ile458Asn, XP_047283239.1:p.Ile444Asn, XP_047283241.1:p.Ile394Asn, XP_047283243.1:p.Ile445Asn, XP_047283244.1:p.Ile444Asn, XP_047283253.1:p.Ile459Asn, XP_047283247.1:p.Ile408Asn, XP_047283249.1:p.Ile408Asn, XP_047283248.1:p.Ile394Asn, XP_047283250.1:p.Ile458Asn, XP_047283251.1:p.Ile394Asn, XP_047283252.1:p.Ile445Asn, XP_047283254.1:p.Ile459Asn, XP_047283256.1:p.Ile459Asn, XP_047283255.1:p.Ile445Asn, XP_047283257.1:p.Ile444Asn, XP_047283258.1:p.Ile445Asn, XP_047283259.1:p.Ile444Asn, XP_047283260.1:p.Ile408Asn, XP_047283262.1:p.Ile408Asn, XP_047283261.1:p.Ile394Asn, XP_047283263.1:p.Ile445Asn, XP_047283266.1:p.Ile459Asn, XP_047283264.1:p.Ile445Asn, XP_047283265.1:p.Ile394Asn

    2.

    rs1489601585 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:76523275 (GRCh38)
      11:76234319 (GRCh37)
      Canonical SPDI:
      NC_000011.10:76523274:C:T
      Gene:
      EMSY (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000011.10:g.76523275C>T, NC_000011.9:g.76234319C>T, XM_005274112.6:c.1697C>T, XM_005274112.5:c.1697C>T, XM_005274112.4:c.1697C>T, XM_005274112.3:c.1697C>T, XM_005274112.2:c.1697C>T, XM_005274112.1:c.1697C>T, NM_020193.5:c.1805C>T, NM_020193.4:c.1805C>T, NM_020193.3:c.1805C>T, XM_006718638.5:c.1808C>T, XM_006718638.4:c.1808C>T, XM_006718638.3:c.1808C>T, XM_006718638.2:c.1808C>T, XM_006718638.1:c.1808C>T, XM_006718637.5:c.1850C>T, XM_006718637.4:c.1850C>T, XM_006718637.3:c.1850C>T, XM_006718637.2:c.1850C>T, XM_006718637.1:c.1850C>T, NM_001300942.2:c.1850C>T, NM_001300942.1:c.1850C>T, NM_001300944.2:c.1850C>T, NM_001300944.1:c.1850C>T, NM_001300943.2:c.1808C>T, NM_001300943.1:c.1808C>T, XM_047427269.1:c.1850C>T, XM_047427273.1:c.1850C>T, XM_047427272.1:c.1808C>T, XM_047427274.1:c.1805C>T, XM_047427267.1:c.1847C>T, XM_047427275.1:c.1808C>T, XM_047427268.1:c.1847C>T, XM_047427280.1:c.1697C>T, XM_047427271.1:c.1805C>T, XM_047427286.1:c.1655C>T, XM_047427289.1:c.1808C>T, XM_047427276.1:c.1697C>T, XM_047427290.1:c.1655C>T, XM_047427277.1:c.1850C>T, XM_047427278.1:c.1847C>T, XM_047427279.1:c.1655C>T, XM_047427282.1:c.1850C>T, XM_047427281.1:c.1808C>T, XM_047427284.1:c.1847C>T, XM_047427283.1:c.1805C>T, XM_047427285.1:c.1655C>T, XM_047427287.1:c.1808C>T, XM_047427288.1:c.1805C>T, XM_047427297.1:c.1850C>T, XM_047427291.1:c.1697C>T, XM_047427293.1:c.1697C>T, XM_047427292.1:c.1655C>T, XM_047427294.1:c.1847C>T, XM_047427295.1:c.1655C>T, XM_047427296.1:c.1808C>T, XM_047427298.1:c.1850C>T, XM_047427300.1:c.1850C>T, XM_047427299.1:c.1808C>T, XM_047427301.1:c.1805C>T, XM_047427302.1:c.1808C>T, XM_047427303.1:c.1805C>T, XM_047427304.1:c.1697C>T, XM_047427306.1:c.1697C>T, XM_047427305.1:c.1655C>T, XM_047427307.1:c.1808C>T, XM_047427310.1:c.1850C>T, XM_047427308.1:c.1808C>T, XM_047427309.1:c.1655C>T, XP_005274169.1:p.Thr566Met, NP_064578.2:p.Thr602Met, XP_006718701.1:p.Thr603Met, XP_006718700.1:p.Thr617Met, NP_001287871.1:p.Thr617Met, NP_001287873.1:p.Thr617Met, NP_001287872.1:p.Thr603Met, XP_047283225.1:p.Thr617Met, XP_047283229.1:p.Thr617Met, XP_047283228.1:p.Thr603Met, XP_047283230.1:p.Thr602Met, XP_047283223.1:p.Thr616Met, XP_047283231.1:p.Thr603Met, XP_047283224.1:p.Thr616Met, XP_047283236.1:p.Thr566Met, XP_047283227.1:p.Thr602Met, XP_047283242.1:p.Thr552Met, XP_047283245.1:p.Thr603Met, XP_047283232.1:p.Thr566Met, XP_047283246.1:p.Thr552Met, XP_047283233.1:p.Thr617Met, XP_047283234.1:p.Thr616Met, XP_047283235.1:p.Thr552Met, XP_047283238.1:p.Thr617Met, XP_047283237.1:p.Thr603Met, XP_047283240.1:p.Thr616Met, XP_047283239.1:p.Thr602Met, XP_047283241.1:p.Thr552Met, XP_047283243.1:p.Thr603Met, XP_047283244.1:p.Thr602Met, XP_047283253.1:p.Thr617Met, XP_047283247.1:p.Thr566Met, XP_047283249.1:p.Thr566Met, XP_047283248.1:p.Thr552Met, XP_047283250.1:p.Thr616Met, XP_047283251.1:p.Thr552Met, XP_047283252.1:p.Thr603Met, XP_047283254.1:p.Thr617Met, XP_047283256.1:p.Thr617Met, XP_047283255.1:p.Thr603Met, XP_047283257.1:p.Thr602Met, XP_047283258.1:p.Thr603Met, XP_047283259.1:p.Thr602Met, XP_047283260.1:p.Thr566Met, XP_047283262.1:p.Thr566Met, XP_047283261.1:p.Thr552Met, XP_047283263.1:p.Thr603Met, XP_047283266.1:p.Thr617Met, XP_047283264.1:p.Thr603Met, XP_047283265.1:p.Thr552Met

      3.

      rs1489561216 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:76496459 (GRCh38)
        11:76207503 (GRCh37)
        Canonical SPDI:
        NC_000011.10:76496458:A:G
        Gene:
        EMSY (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.76496459A>G, NC_000011.9:g.76207503A>G, XM_005274112.6:c.1245A>G, XM_005274112.5:c.1245A>G, XM_005274112.4:c.1245A>G, XM_005274112.3:c.1245A>G, XM_005274112.2:c.1245A>G, XM_005274112.1:c.1245A>G, NM_020193.5:c.1353A>G, NM_020193.4:c.1353A>G, NM_020193.3:c.1353A>G, XM_006718638.5:c.1356A>G, XM_006718638.4:c.1356A>G, XM_006718638.3:c.1356A>G, XM_006718638.2:c.1356A>G, XM_006718638.1:c.1356A>G, XM_006718637.5:c.1398A>G, XM_006718637.4:c.1398A>G, XM_006718637.3:c.1398A>G, XM_006718637.2:c.1398A>G, XM_006718637.1:c.1398A>G, NM_001300942.2:c.1398A>G, NM_001300942.1:c.1398A>G, NM_001300944.2:c.1398A>G, NM_001300944.1:c.1398A>G, NM_001300943.2:c.1356A>G, NM_001300943.1:c.1356A>G, XM_047427269.1:c.1398A>G, XM_047427273.1:c.1398A>G, XM_047427272.1:c.1356A>G, XM_047427274.1:c.1353A>G, XM_047427267.1:c.1395A>G, XM_047427275.1:c.1356A>G, XM_047427268.1:c.1395A>G, XM_047427280.1:c.1245A>G, XM_047427271.1:c.1353A>G, XM_047427286.1:c.1203A>G, XM_047427289.1:c.1356A>G, XM_047427276.1:c.1245A>G, XM_047427290.1:c.1203A>G, XM_047427277.1:c.1398A>G, XM_047427278.1:c.1395A>G, XM_047427279.1:c.1203A>G, XM_047427282.1:c.1398A>G, XM_047427281.1:c.1356A>G, XM_047427284.1:c.1395A>G, XM_047427283.1:c.1353A>G, XM_047427285.1:c.1203A>G, XM_047427287.1:c.1356A>G, XM_047427288.1:c.1353A>G, XM_047427297.1:c.1398A>G, XM_047427291.1:c.1245A>G, XM_047427293.1:c.1245A>G, XM_047427292.1:c.1203A>G, XM_047427294.1:c.1395A>G, XM_047427295.1:c.1203A>G, XM_047427296.1:c.1356A>G, XM_047427298.1:c.1398A>G, XM_047427300.1:c.1398A>G, XM_047427299.1:c.1356A>G, XM_047427301.1:c.1353A>G, XM_047427302.1:c.1356A>G, XM_047427303.1:c.1353A>G, XM_047427304.1:c.1245A>G, XM_047427306.1:c.1245A>G, XM_047427305.1:c.1203A>G, XM_047427307.1:c.1356A>G, XM_047427310.1:c.1398A>G, XM_047427308.1:c.1356A>G, XM_047427309.1:c.1203A>G

        4.

        rs1489497608 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:76464012 (GRCh38)
          11:76175056 (GRCh37)
          Canonical SPDI:
          NC_000011.10:76464011:C:T
          Gene:
          EMSY (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000051/1 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000016/4 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.76464012C>T, NC_000011.9:g.76175056C>T, XM_005274112.6:c.655C>T, XM_005274112.5:c.655C>T, XM_005274112.4:c.655C>T, XM_005274112.3:c.655C>T, XM_005274112.2:c.655C>T, XM_005274112.1:c.655C>T, NM_020193.5:c.763C>T, NM_020193.4:c.763C>T, NM_020193.3:c.763C>T, XM_006718638.5:c.766C>T, XM_006718638.4:c.766C>T, XM_006718638.3:c.766C>T, XM_006718638.2:c.766C>T, XM_006718638.1:c.766C>T, XM_006718637.5:c.808C>T, XM_006718637.4:c.808C>T, XM_006718637.3:c.808C>T, XM_006718637.2:c.808C>T, XM_006718637.1:c.808C>T, NM_001300942.2:c.808C>T, NM_001300942.1:c.808C>T, NM_001300944.2:c.808C>T, NM_001300944.1:c.808C>T, NM_001300943.2:c.766C>T, NM_001300943.1:c.766C>T, XM_047427269.1:c.808C>T, XM_047427273.1:c.808C>T, XM_047427272.1:c.766C>T, XM_047427274.1:c.763C>T, XM_047427267.1:c.805C>T, XM_047427275.1:c.766C>T, XM_047427268.1:c.805C>T, XM_047427280.1:c.655C>T, XM_047427271.1:c.763C>T, XM_047427286.1:c.613C>T, XM_047427289.1:c.766C>T, XM_047427276.1:c.655C>T, XM_047427290.1:c.613C>T, XM_047427277.1:c.808C>T, XM_047427278.1:c.805C>T, XM_047427279.1:c.613C>T, XM_047427282.1:c.808C>T, XM_047427281.1:c.766C>T, XM_047427284.1:c.805C>T, XM_047427283.1:c.763C>T, XM_047427285.1:c.613C>T, XM_047427287.1:c.766C>T, XM_047427288.1:c.763C>T, XM_047427297.1:c.808C>T, XM_047427291.1:c.655C>T, XM_047427293.1:c.655C>T, XM_047427292.1:c.613C>T, XM_047427294.1:c.805C>T, XM_047427295.1:c.613C>T, XM_047427296.1:c.766C>T, XM_047427298.1:c.808C>T, XM_047427300.1:c.808C>T, XM_047427299.1:c.766C>T, XM_047427301.1:c.763C>T, XM_047427302.1:c.766C>T, XM_047427303.1:c.763C>T, XM_047427304.1:c.655C>T, XM_047427306.1:c.655C>T, XM_047427305.1:c.613C>T, XM_047427307.1:c.766C>T, XM_047427310.1:c.808C>T, XM_047427308.1:c.766C>T, XM_047427309.1:c.613C>T, XP_005274169.1:p.His219Tyr, NP_064578.2:p.His255Tyr, XP_006718701.1:p.His256Tyr, XP_006718700.1:p.His270Tyr, NP_001287871.1:p.His270Tyr, NP_001287873.1:p.His270Tyr, NP_001287872.1:p.His256Tyr, XP_047283225.1:p.His270Tyr, XP_047283229.1:p.His270Tyr, XP_047283228.1:p.His256Tyr, XP_047283230.1:p.His255Tyr, XP_047283223.1:p.His269Tyr, XP_047283231.1:p.His256Tyr, XP_047283224.1:p.His269Tyr, XP_047283236.1:p.His219Tyr, XP_047283227.1:p.His255Tyr, XP_047283242.1:p.His205Tyr, XP_047283245.1:p.His256Tyr, XP_047283232.1:p.His219Tyr, XP_047283246.1:p.His205Tyr, XP_047283233.1:p.His270Tyr, XP_047283234.1:p.His269Tyr, XP_047283235.1:p.His205Tyr, XP_047283238.1:p.His270Tyr, XP_047283237.1:p.His256Tyr, XP_047283240.1:p.His269Tyr, XP_047283239.1:p.His255Tyr, XP_047283241.1:p.His205Tyr, XP_047283243.1:p.His256Tyr, XP_047283244.1:p.His255Tyr, XP_047283253.1:p.His270Tyr, XP_047283247.1:p.His219Tyr, XP_047283249.1:p.His219Tyr, XP_047283248.1:p.His205Tyr, XP_047283250.1:p.His269Tyr, XP_047283251.1:p.His205Tyr, XP_047283252.1:p.His256Tyr, XP_047283254.1:p.His270Tyr, XP_047283256.1:p.His270Tyr, XP_047283255.1:p.His256Tyr, XP_047283257.1:p.His255Tyr, XP_047283258.1:p.His256Tyr, XP_047283259.1:p.His255Tyr, XP_047283260.1:p.His219Tyr, XP_047283262.1:p.His219Tyr, XP_047283261.1:p.His205Tyr, XP_047283263.1:p.His256Tyr, XP_047283266.1:p.His270Tyr, XP_047283264.1:p.His256Tyr, XP_047283265.1:p.His205Tyr

          5.

          rs1487922486 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G [Show Flanks]
            Chromosome:
            11:76513459 (GRCh38)
            11:76224503 (GRCh37)
            Canonical SPDI:
            NC_000011.10:76513458:C:A,NC_000011.10:76513458:C:G
            Gene:
            EMSY (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.76513459C>A, NC_000011.10:g.76513459C>G, NC_000011.9:g.76224503C>A, NC_000011.9:g.76224503C>G, XM_005274112.6:c.1329C>A, XM_005274112.6:c.1329C>G, XM_005274112.5:c.1329C>A, XM_005274112.5:c.1329C>G, XM_005274112.4:c.1329C>A, XM_005274112.4:c.1329C>G, XM_005274112.3:c.1329C>A, XM_005274112.3:c.1329C>G, XM_005274112.2:c.1329C>A, XM_005274112.2:c.1329C>G, XM_005274112.1:c.1329C>A, XM_005274112.1:c.1329C>G, NM_020193.5:c.1437C>A, NM_020193.5:c.1437C>G, NM_020193.4:c.1437C>A, NM_020193.4:c.1437C>G, NM_020193.3:c.1437C>A, NM_020193.3:c.1437C>G, XM_006718638.5:c.1440C>A, XM_006718638.5:c.1440C>G, XM_006718638.4:c.1440C>A, XM_006718638.4:c.1440C>G, XM_006718638.3:c.1440C>A, XM_006718638.3:c.1440C>G, XM_006718638.2:c.1440C>A, XM_006718638.2:c.1440C>G, XM_006718638.1:c.1440C>A, XM_006718638.1:c.1440C>G, XM_006718637.5:c.1482C>A, XM_006718637.5:c.1482C>G, XM_006718637.4:c.1482C>A, XM_006718637.4:c.1482C>G, XM_006718637.3:c.1482C>A, XM_006718637.3:c.1482C>G, XM_006718637.2:c.1482C>A, XM_006718637.2:c.1482C>G, XM_006718637.1:c.1482C>A, XM_006718637.1:c.1482C>G, NM_001300942.2:c.1482C>A, NM_001300942.2:c.1482C>G, NM_001300942.1:c.1482C>A, NM_001300942.1:c.1482C>G, NM_001300944.2:c.1482C>A, NM_001300944.2:c.1482C>G, NM_001300944.1:c.1482C>A, NM_001300944.1:c.1482C>G, NM_001300943.2:c.1440C>A, NM_001300943.2:c.1440C>G, NM_001300943.1:c.1440C>A, NM_001300943.1:c.1440C>G, XM_047427269.1:c.1482C>A, XM_047427269.1:c.1482C>G, XM_047427273.1:c.1482C>A, XM_047427273.1:c.1482C>G, XM_047427272.1:c.1440C>A, XM_047427272.1:c.1440C>G, XM_047427274.1:c.1437C>A, XM_047427274.1:c.1437C>G, XM_047427267.1:c.1479C>A, XM_047427267.1:c.1479C>G, XM_047427275.1:c.1440C>A, XM_047427275.1:c.1440C>G, XM_047427268.1:c.1479C>A, XM_047427268.1:c.1479C>G, XM_047427280.1:c.1329C>A, XM_047427280.1:c.1329C>G, XM_047427271.1:c.1437C>A, XM_047427271.1:c.1437C>G, XM_047427286.1:c.1287C>A, XM_047427286.1:c.1287C>G, XM_047427289.1:c.1440C>A, XM_047427289.1:c.1440C>G, XM_047427276.1:c.1329C>A, XM_047427276.1:c.1329C>G, XM_047427290.1:c.1287C>A, XM_047427290.1:c.1287C>G, XM_047427277.1:c.1482C>A, XM_047427277.1:c.1482C>G, XM_047427278.1:c.1479C>A, XM_047427278.1:c.1479C>G, XM_047427279.1:c.1287C>A, XM_047427279.1:c.1287C>G, XM_047427282.1:c.1482C>A, XM_047427282.1:c.1482C>G, XM_047427281.1:c.1440C>A, XM_047427281.1:c.1440C>G, XM_047427284.1:c.1479C>A, XM_047427284.1:c.1479C>G, XM_047427283.1:c.1437C>A, XM_047427283.1:c.1437C>G, XM_047427285.1:c.1287C>A, XM_047427285.1:c.1287C>G, XM_047427287.1:c.1440C>A, XM_047427287.1:c.1440C>G, XM_047427288.1:c.1437C>A, XM_047427288.1:c.1437C>G, XM_047427297.1:c.1482C>A, XM_047427297.1:c.1482C>G, XM_047427291.1:c.1329C>A, XM_047427291.1:c.1329C>G, XM_047427293.1:c.1329C>A, XM_047427293.1:c.1329C>G, XM_047427292.1:c.1287C>A, XM_047427292.1:c.1287C>G, XM_047427294.1:c.1479C>A, XM_047427294.1:c.1479C>G, XM_047427295.1:c.1287C>A, XM_047427295.1:c.1287C>G, XM_047427296.1:c.1440C>A, XM_047427296.1:c.1440C>G, XM_047427298.1:c.1482C>A, XM_047427298.1:c.1482C>G, XM_047427300.1:c.1482C>A, XM_047427300.1:c.1482C>G, XM_047427299.1:c.1440C>A, XM_047427299.1:c.1440C>G, XM_047427301.1:c.1437C>A, XM_047427301.1:c.1437C>G, XM_047427302.1:c.1440C>A, XM_047427302.1:c.1440C>G, XM_047427303.1:c.1437C>A, XM_047427303.1:c.1437C>G, XM_047427304.1:c.1329C>A, XM_047427304.1:c.1329C>G, XM_047427306.1:c.1329C>A, XM_047427306.1:c.1329C>G, XM_047427305.1:c.1287C>A, XM_047427305.1:c.1287C>G, XM_047427307.1:c.1440C>A, XM_047427307.1:c.1440C>G, XM_047427310.1:c.1482C>A, XM_047427310.1:c.1482C>G, XM_047427308.1:c.1440C>A, XM_047427308.1:c.1440C>G, XM_047427309.1:c.1287C>A, XM_047427309.1:c.1287C>G

            6.

            rs1487532236 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:76544632 (GRCh38)
              11:76255676 (GRCh37)
              Canonical SPDI:
              NC_000011.10:76544631:A:G
              Gene:
              EMSY (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.76544632A>G, NC_000011.9:g.76255676A>G, XM_005274112.6:c.2933A>G, XM_005274112.5:c.2933A>G, XM_005274112.4:c.2933A>G, XM_005274112.3:c.2933A>G, XM_005274112.2:c.2933A>G, XM_005274112.1:c.2933A>G, NM_020193.5:c.3083A>G, NM_020193.4:c.3083A>G, NM_020193.3:c.3083A>G, XM_006718638.5:c.3044A>G, XM_006718638.4:c.3044A>G, XM_006718638.3:c.3044A>G, XM_006718638.2:c.3044A>G, XM_006718638.1:c.3044A>G, XM_006718637.5:c.2765A>G, XM_006718637.4:c.2765A>G, XM_006718637.3:c.2765A>G, XM_006718637.2:c.2765A>G, XM_006718637.1:c.2765A>G, NM_001300942.2:c.3128A>G, NM_001300942.1:c.3128A>G, NM_001300944.2:c.3086A>G, NM_001300944.1:c.3086A>G, NM_001300943.2:c.3086A>G, NM_001300943.1:c.3086A>G, XM_047427269.1:c.3128A>G, XM_047427273.1:c.3086A>G, XM_047427272.1:c.3086A>G, XM_047427274.1:c.3083A>G, XM_047427267.1:c.3125A>G, XM_047427275.1:c.3044A>G, XM_047427268.1:c.3083A>G, XM_047427280.1:c.2975A>G, XM_047427271.1:c.3041A>G, XM_047427286.1:c.2933A>G, XM_047427289.1:c.2921A>G, XM_047427276.1:c.2975A>G, XM_047427290.1:c.2891A>G, XM_047427277.1:c.2963A>G, XM_047427278.1:c.2960A>G, XM_047427279.1:c.2933A>G, XM_047427282.1:c.2921A>G, XM_047427281.1:c.2921A>G, XM_047427284.1:c.2918A>G, XM_047427283.1:c.2918A>G, XM_047427285.1:c.2891A>G, XM_047427287.1:c.2879A>G, XM_047427288.1:c.2876A>G, XM_047427297.1:c.2765A>G, XM_047427291.1:c.2810A>G, XM_047427293.1:c.2768A>G, XM_047427292.1:c.2768A>G, XM_047427294.1:c.2762A>G, XM_047427295.1:c.2726A>G, XM_047427296.1:c.2723A>G, XM_047427298.1:c.3128A>G, XM_047427300.1:c.3086A>G, XM_047427299.1:c.3086A>G, XM_047427301.1:c.3083A>G, XM_047427302.1:c.3044A>G, XM_047427303.1:c.3041A>G, XM_047427304.1:c.2975A>G, XM_047427306.1:c.2933A>G, XM_047427305.1:c.2933A>G, XM_047427307.1:c.2921A>G, XM_047427308.1:c.3086A>G, XM_047427309.1:c.2933A>G, XP_005274169.1:p.Lys978Arg, NP_064578.2:p.Lys1028Arg, XP_006718701.1:p.Lys1015Arg, XP_006718700.1:p.Lys922Arg, NP_001287871.1:p.Lys1043Arg, NP_001287873.1:p.Lys1029Arg, NP_001287872.1:p.Lys1029Arg, XP_047283225.1:p.Lys1043Arg, XP_047283229.1:p.Lys1029Arg, XP_047283228.1:p.Lys1029Arg, XP_047283230.1:p.Lys1028Arg, XP_047283223.1:p.Lys1042Arg, XP_047283231.1:p.Lys1015Arg, XP_047283224.1:p.Lys1028Arg, XP_047283236.1:p.Lys992Arg, XP_047283227.1:p.Lys1014Arg, XP_047283242.1:p.Lys978Arg, XP_047283245.1:p.Lys974Arg, XP_047283232.1:p.Lys992Arg, XP_047283246.1:p.Lys964Arg, XP_047283233.1:p.Lys988Arg, XP_047283234.1:p.Lys987Arg, XP_047283235.1:p.Lys978Arg, XP_047283238.1:p.Lys974Arg, XP_047283237.1:p.Lys974Arg, XP_047283240.1:p.Lys973Arg, XP_047283239.1:p.Lys973Arg, XP_047283241.1:p.Lys964Arg, XP_047283243.1:p.Lys960Arg, XP_047283244.1:p.Lys959Arg, XP_047283253.1:p.Lys922Arg, XP_047283247.1:p.Lys937Arg, XP_047283249.1:p.Lys923Arg, XP_047283248.1:p.Lys923Arg, XP_047283250.1:p.Lys921Arg, XP_047283251.1:p.Lys909Arg, XP_047283252.1:p.Lys908Arg, XP_047283254.1:p.Lys1043Arg, XP_047283256.1:p.Lys1029Arg, XP_047283255.1:p.Lys1029Arg, XP_047283257.1:p.Lys1028Arg, XP_047283258.1:p.Lys1015Arg, XP_047283259.1:p.Lys1014Arg, XP_047283260.1:p.Lys992Arg, XP_047283262.1:p.Lys978Arg, XP_047283261.1:p.Lys978Arg, XP_047283263.1:p.Lys974Arg, XP_047283264.1:p.Lys1029Arg, XP_047283265.1:p.Lys978Arg

              7.

              rs1487173143 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:76463864 (GRCh38)
                11:76174908 (GRCh37)
                Canonical SPDI:
                NC_000011.10:76463863:G:A
                Gene:
                EMSY (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.0002/1 (ALFA)
                A=0.0002/1 (Estonian)
                HGVS:
                NC_000011.10:g.76463864G>A, NC_000011.9:g.76174908G>A, XM_005274112.6:c.507G>A, XM_005274112.5:c.507G>A, XM_005274112.4:c.507G>A, XM_005274112.3:c.507G>A, XM_005274112.2:c.507G>A, XM_005274112.1:c.507G>A, NM_020193.5:c.615G>A, NM_020193.4:c.615G>A, NM_020193.3:c.615G>A, XM_006718638.5:c.618G>A, XM_006718638.4:c.618G>A, XM_006718638.3:c.618G>A, XM_006718638.2:c.618G>A, XM_006718638.1:c.618G>A, XM_006718637.5:c.660G>A, XM_006718637.4:c.660G>A, XM_006718637.3:c.660G>A, XM_006718637.2:c.660G>A, XM_006718637.1:c.660G>A, NM_001300942.2:c.660G>A, NM_001300942.1:c.660G>A, NM_001300944.2:c.660G>A, NM_001300944.1:c.660G>A, NM_001300943.2:c.618G>A, NM_001300943.1:c.618G>A, XM_047427269.1:c.660G>A, XM_047427273.1:c.660G>A, XM_047427272.1:c.618G>A, XM_047427274.1:c.615G>A, XM_047427267.1:c.657G>A, XM_047427275.1:c.618G>A, XM_047427268.1:c.657G>A, XM_047427280.1:c.507G>A, XM_047427271.1:c.615G>A, XM_047427286.1:c.465G>A, XM_047427289.1:c.618G>A, XM_047427276.1:c.507G>A, XM_047427290.1:c.465G>A, XM_047427277.1:c.660G>A, XM_047427278.1:c.657G>A, XM_047427279.1:c.465G>A, XM_047427282.1:c.660G>A, XM_047427281.1:c.618G>A, XM_047427284.1:c.657G>A, XM_047427283.1:c.615G>A, XM_047427285.1:c.465G>A, XM_047427287.1:c.618G>A, XM_047427288.1:c.615G>A, XM_047427297.1:c.660G>A, XM_047427291.1:c.507G>A, XM_047427293.1:c.507G>A, XM_047427292.1:c.465G>A, XM_047427294.1:c.657G>A, XM_047427295.1:c.465G>A, XM_047427296.1:c.618G>A, XM_047427298.1:c.660G>A, XM_047427300.1:c.660G>A, XM_047427299.1:c.618G>A, XM_047427301.1:c.615G>A, XM_047427302.1:c.618G>A, XM_047427303.1:c.615G>A, XM_047427304.1:c.507G>A, XM_047427306.1:c.507G>A, XM_047427305.1:c.465G>A, XM_047427307.1:c.618G>A, XM_047427310.1:c.660G>A, XM_047427308.1:c.618G>A, XM_047427309.1:c.465G>A

                8.

                rs1485922190 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G,T [Show Flanks]
                  Chromosome:
                  11:76546116 (GRCh38)
                  11:76257160 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:76546115:C:A,NC_000011.10:76546115:C:G,NC_000011.10:76546115:C:T
                  Gene:
                  EMSY (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000008/2 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  T=0.000342/1 (KOREAN)
                  HGVS:
                  NC_000011.10:g.76546116C>A, NC_000011.10:g.76546116C>G, NC_000011.10:g.76546116C>T, NC_000011.9:g.76257160C>A, NC_000011.9:g.76257160C>G, NC_000011.9:g.76257160C>T, XM_005274112.6:c.3443C>A, XM_005274112.6:c.3443C>G, XM_005274112.6:c.3443C>T, XM_005274112.5:c.3443C>A, XM_005274112.5:c.3443C>G, XM_005274112.5:c.3443C>T, XM_005274112.4:c.3443C>A, XM_005274112.4:c.3443C>G, XM_005274112.4:c.3443C>T, XM_005274112.3:c.3443C>A, XM_005274112.3:c.3443C>G, XM_005274112.3:c.3443C>T, XM_005274112.2:c.3443C>A, XM_005274112.2:c.3443C>G, XM_005274112.2:c.3443C>T, XM_005274112.1:c.3443C>A, XM_005274112.1:c.3443C>G, XM_005274112.1:c.3443C>T, NM_020193.5:c.3593C>A, NM_020193.5:c.3593C>G, NM_020193.5:c.3593C>T, NM_020193.4:c.3593C>A, NM_020193.4:c.3593C>G, NM_020193.4:c.3593C>T, NM_020193.3:c.3593C>A, NM_020193.3:c.3593C>G, NM_020193.3:c.3593C>T, XM_006718638.5:c.3554C>A, XM_006718638.5:c.3554C>G, XM_006718638.5:c.3554C>T, XM_006718638.4:c.3554C>A, XM_006718638.4:c.3554C>G, XM_006718638.4:c.3554C>T, XM_006718638.3:c.3554C>A, XM_006718638.3:c.3554C>G, XM_006718638.3:c.3554C>T, XM_006718638.2:c.3554C>A, XM_006718638.2:c.3554C>G, XM_006718638.2:c.3554C>T, XM_006718638.1:c.3554C>A, XM_006718638.1:c.3554C>G, XM_006718638.1:c.3554C>T, XM_006718637.5:c.3275C>A, XM_006718637.5:c.3275C>G, XM_006718637.5:c.3275C>T, XM_006718637.4:c.3275C>A, XM_006718637.4:c.3275C>G, XM_006718637.4:c.3275C>T, XM_006718637.3:c.3275C>A, XM_006718637.3:c.3275C>G, XM_006718637.3:c.3275C>T, XM_006718637.2:c.3275C>A, XM_006718637.2:c.3275C>G, XM_006718637.2:c.3275C>T, XM_006718637.1:c.3275C>A, XM_006718637.1:c.3275C>G, XM_006718637.1:c.3275C>T, NM_001300942.2:c.3638C>A, NM_001300942.2:c.3638C>G, NM_001300942.2:c.3638C>T, NM_001300942.1:c.3638C>A, NM_001300942.1:c.3638C>G, NM_001300942.1:c.3638C>T, NM_001300944.2:c.3596C>A, NM_001300944.2:c.3596C>G, NM_001300944.2:c.3596C>T, NM_001300944.1:c.3596C>A, NM_001300944.1:c.3596C>G, NM_001300944.1:c.3596C>T, NM_001300943.2:c.3596C>A, NM_001300943.2:c.3596C>G, NM_001300943.2:c.3596C>T, NM_001300943.1:c.3596C>A, NM_001300943.1:c.3596C>G, NM_001300943.1:c.3596C>T, XM_047427269.1:c.3638C>A, XM_047427269.1:c.3638C>G, XM_047427269.1:c.3638C>T, XM_047427273.1:c.3596C>A, XM_047427273.1:c.3596C>G, XM_047427273.1:c.3596C>T, XM_047427272.1:c.3596C>A, XM_047427272.1:c.3596C>G, XM_047427272.1:c.3596C>T, XM_047427274.1:c.3593C>A, XM_047427274.1:c.3593C>G, XM_047427274.1:c.3593C>T, XM_047427267.1:c.3635C>A, XM_047427267.1:c.3635C>G, XM_047427267.1:c.3635C>T, XM_047427275.1:c.3554C>A, XM_047427275.1:c.3554C>G, XM_047427275.1:c.3554C>T, XM_047427268.1:c.3593C>A, XM_047427268.1:c.3593C>G, XM_047427268.1:c.3593C>T, XM_047427280.1:c.3485C>A, XM_047427280.1:c.3485C>G, XM_047427280.1:c.3485C>T, XM_047427271.1:c.3551C>A, XM_047427271.1:c.3551C>G, XM_047427271.1:c.3551C>T, XM_047427286.1:c.3443C>A, XM_047427286.1:c.3443C>G, XM_047427286.1:c.3443C>T, XM_047427289.1:c.3431C>A, XM_047427289.1:c.3431C>G, XM_047427289.1:c.3431C>T, XM_047427276.1:c.3485C>A, XM_047427276.1:c.3485C>G, XM_047427276.1:c.3485C>T, XM_047427290.1:c.3401C>A, XM_047427290.1:c.3401C>G, XM_047427290.1:c.3401C>T, XM_047427277.1:c.3473C>A, XM_047427277.1:c.3473C>G, XM_047427277.1:c.3473C>T, XM_047427278.1:c.3470C>A, XM_047427278.1:c.3470C>G, XM_047427278.1:c.3470C>T, XM_047427279.1:c.3443C>A, XM_047427279.1:c.3443C>G, XM_047427279.1:c.3443C>T, XM_047427282.1:c.3431C>A, XM_047427282.1:c.3431C>G, XM_047427282.1:c.3431C>T, XM_047427281.1:c.3431C>A, XM_047427281.1:c.3431C>G, XM_047427281.1:c.3431C>T, XM_047427284.1:c.3428C>A, XM_047427284.1:c.3428C>G, XM_047427284.1:c.3428C>T, XM_047427283.1:c.3428C>A, XM_047427283.1:c.3428C>G, XM_047427283.1:c.3428C>T, XM_047427285.1:c.3401C>A, XM_047427285.1:c.3401C>G, XM_047427285.1:c.3401C>T, XM_047427287.1:c.3389C>A, XM_047427287.1:c.3389C>G, XM_047427287.1:c.3389C>T, XM_047427288.1:c.3386C>A, XM_047427288.1:c.3386C>G, XM_047427288.1:c.3386C>T, XM_047427297.1:c.3275C>A, XM_047427297.1:c.3275C>G, XM_047427297.1:c.3275C>T, XM_047427291.1:c.3320C>A, XM_047427291.1:c.3320C>G, XM_047427291.1:c.3320C>T, XM_047427293.1:c.3278C>A, XM_047427293.1:c.3278C>G, XM_047427293.1:c.3278C>T, XM_047427292.1:c.3278C>A, XM_047427292.1:c.3278C>G, XM_047427292.1:c.3278C>T, XM_047427294.1:c.3272C>A, XM_047427294.1:c.3272C>G, XM_047427294.1:c.3272C>T, XM_047427295.1:c.3236C>A, XM_047427295.1:c.3236C>G, XM_047427295.1:c.3236C>T, XM_047427296.1:c.3233C>A, XM_047427296.1:c.3233C>G, XM_047427296.1:c.3233C>T, XP_005274169.1:p.Ala1148Glu, XP_005274169.1:p.Ala1148Gly, XP_005274169.1:p.Ala1148Val, NP_064578.2:p.Ala1198Glu, NP_064578.2:p.Ala1198Gly, NP_064578.2:p.Ala1198Val, XP_006718701.1:p.Ala1185Glu, XP_006718701.1:p.Ala1185Gly, XP_006718701.1:p.Ala1185Val, XP_006718700.1:p.Ala1092Glu, XP_006718700.1:p.Ala1092Gly, XP_006718700.1:p.Ala1092Val, NP_001287871.1:p.Ala1213Glu, NP_001287871.1:p.Ala1213Gly, NP_001287871.1:p.Ala1213Val, NP_001287873.1:p.Ala1199Glu, NP_001287873.1:p.Ala1199Gly, NP_001287873.1:p.Ala1199Val, NP_001287872.1:p.Ala1199Glu, NP_001287872.1:p.Ala1199Gly, NP_001287872.1:p.Ala1199Val, XP_047283225.1:p.Ala1213Glu, XP_047283225.1:p.Ala1213Gly, XP_047283225.1:p.Ala1213Val, XP_047283229.1:p.Ala1199Glu, XP_047283229.1:p.Ala1199Gly, XP_047283229.1:p.Ala1199Val, XP_047283228.1:p.Ala1199Glu, XP_047283228.1:p.Ala1199Gly, XP_047283228.1:p.Ala1199Val, XP_047283230.1:p.Ala1198Glu, XP_047283230.1:p.Ala1198Gly, XP_047283230.1:p.Ala1198Val, XP_047283223.1:p.Ala1212Glu, XP_047283223.1:p.Ala1212Gly, XP_047283223.1:p.Ala1212Val, XP_047283231.1:p.Ala1185Glu, XP_047283231.1:p.Ala1185Gly, XP_047283231.1:p.Ala1185Val, XP_047283224.1:p.Ala1198Glu, XP_047283224.1:p.Ala1198Gly, XP_047283224.1:p.Ala1198Val, XP_047283236.1:p.Ala1162Glu, XP_047283236.1:p.Ala1162Gly, XP_047283236.1:p.Ala1162Val, XP_047283227.1:p.Ala1184Glu, XP_047283227.1:p.Ala1184Gly, XP_047283227.1:p.Ala1184Val, XP_047283242.1:p.Ala1148Glu, XP_047283242.1:p.Ala1148Gly, XP_047283242.1:p.Ala1148Val, XP_047283245.1:p.Ala1144Glu, XP_047283245.1:p.Ala1144Gly, XP_047283245.1:p.Ala1144Val, XP_047283232.1:p.Ala1162Glu, XP_047283232.1:p.Ala1162Gly, XP_047283232.1:p.Ala1162Val, XP_047283246.1:p.Ala1134Glu, XP_047283246.1:p.Ala1134Gly, XP_047283246.1:p.Ala1134Val, XP_047283233.1:p.Ala1158Glu, XP_047283233.1:p.Ala1158Gly, XP_047283233.1:p.Ala1158Val, XP_047283234.1:p.Ala1157Glu, XP_047283234.1:p.Ala1157Gly, XP_047283234.1:p.Ala1157Val, XP_047283235.1:p.Ala1148Glu, XP_047283235.1:p.Ala1148Gly, XP_047283235.1:p.Ala1148Val, XP_047283238.1:p.Ala1144Glu, XP_047283238.1:p.Ala1144Gly, XP_047283238.1:p.Ala1144Val, XP_047283237.1:p.Ala1144Glu, XP_047283237.1:p.Ala1144Gly, XP_047283237.1:p.Ala1144Val, XP_047283240.1:p.Ala1143Glu, XP_047283240.1:p.Ala1143Gly, XP_047283240.1:p.Ala1143Val, XP_047283239.1:p.Ala1143Glu, XP_047283239.1:p.Ala1143Gly, XP_047283239.1:p.Ala1143Val, XP_047283241.1:p.Ala1134Glu, XP_047283241.1:p.Ala1134Gly, XP_047283241.1:p.Ala1134Val, XP_047283243.1:p.Ala1130Glu, XP_047283243.1:p.Ala1130Gly, XP_047283243.1:p.Ala1130Val, XP_047283244.1:p.Ala1129Glu, XP_047283244.1:p.Ala1129Gly, XP_047283244.1:p.Ala1129Val, XP_047283253.1:p.Ala1092Glu, XP_047283253.1:p.Ala1092Gly, XP_047283253.1:p.Ala1092Val, XP_047283247.1:p.Ala1107Glu, XP_047283247.1:p.Ala1107Gly, XP_047283247.1:p.Ala1107Val, XP_047283249.1:p.Ala1093Glu, XP_047283249.1:p.Ala1093Gly, XP_047283249.1:p.Ala1093Val, XP_047283248.1:p.Ala1093Glu, XP_047283248.1:p.Ala1093Gly, XP_047283248.1:p.Ala1093Val, XP_047283250.1:p.Ala1091Glu, XP_047283250.1:p.Ala1091Gly, XP_047283250.1:p.Ala1091Val, XP_047283251.1:p.Ala1079Glu, XP_047283251.1:p.Ala1079Gly, XP_047283251.1:p.Ala1079Val, XP_047283252.1:p.Ala1078Glu, XP_047283252.1:p.Ala1078Gly, XP_047283252.1:p.Ala1078Val

                  9.

                  rs1485351656 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:76458338 (GRCh38)
                    11:76169382 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:76458337:C:T
                    Gene:
                    EMSY (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000011.10:g.76458338C>T, NC_000011.9:g.76169382C>T, XM_005274112.6:c.443C>T, XM_005274112.5:c.443C>T, XM_005274112.4:c.443C>T, XM_005274112.3:c.443C>T, XM_005274112.2:c.443C>T, XM_005274112.1:c.443C>T, NM_020193.5:c.401C>T, NM_020193.4:c.401C>T, NM_020193.3:c.401C>T, XM_006718638.5:c.401C>T, XM_006718638.4:c.401C>T, XM_006718638.3:c.401C>T, XM_006718638.2:c.401C>T, XM_006718638.1:c.401C>T, XM_006718637.5:c.443C>T, XM_006718637.4:c.443C>T, XM_006718637.3:c.443C>T, XM_006718637.2:c.443C>T, XM_006718637.1:c.443C>T, NM_001300942.2:c.443C>T, NM_001300942.1:c.443C>T, NM_001300944.2:c.443C>T, NM_001300944.1:c.443C>T, NM_001300943.2:c.401C>T, NM_001300943.1:c.401C>T, XM_047427269.1:c.443C>T, XM_047427273.1:c.443C>T, XM_047427272.1:c.401C>T, XM_047427274.1:c.401C>T, XM_047427267.1:c.443C>T, XM_047427275.1:c.401C>T, XM_047427268.1:c.443C>T, XM_047427280.1:c.443C>T, XM_047427271.1:c.401C>T, XM_047427286.1:c.401C>T, XM_047427289.1:c.401C>T, XM_047427276.1:c.443C>T, XM_047427290.1:c.401C>T, XM_047427277.1:c.443C>T, XM_047427278.1:c.443C>T, XM_047427279.1:c.401C>T, XM_047427282.1:c.443C>T, XM_047427281.1:c.401C>T, XM_047427284.1:c.443C>T, XM_047427283.1:c.401C>T, XM_047427285.1:c.401C>T, XM_047427287.1:c.401C>T, XM_047427288.1:c.401C>T, XM_047427297.1:c.443C>T, XM_047427291.1:c.443C>T, XM_047427293.1:c.443C>T, XM_047427292.1:c.401C>T, XM_047427294.1:c.443C>T, XM_047427295.1:c.401C>T, XM_047427296.1:c.401C>T, XM_047427298.1:c.443C>T, XM_047427300.1:c.443C>T, XM_047427299.1:c.401C>T, XM_047427301.1:c.401C>T, XM_047427302.1:c.401C>T, XM_047427303.1:c.401C>T, XM_047427304.1:c.443C>T, XM_047427306.1:c.443C>T, XM_047427305.1:c.401C>T, XM_047427307.1:c.401C>T, XM_047427310.1:c.443C>T, XM_047427308.1:c.401C>T, XM_047427309.1:c.401C>T, XP_005274169.1:p.Ala148Val, NP_064578.2:p.Ala134Val, XP_006718701.1:p.Ala134Val, XP_006718700.1:p.Ala148Val, NP_001287871.1:p.Ala148Val, NP_001287873.1:p.Ala148Val, NP_001287872.1:p.Ala134Val, XP_047283225.1:p.Ala148Val, XP_047283229.1:p.Ala148Val, XP_047283228.1:p.Ala134Val, XP_047283230.1:p.Ala134Val, XP_047283223.1:p.Ala148Val, XP_047283231.1:p.Ala134Val, XP_047283224.1:p.Ala148Val, XP_047283236.1:p.Ala148Val, XP_047283227.1:p.Ala134Val, XP_047283242.1:p.Ala134Val, XP_047283245.1:p.Ala134Val, XP_047283232.1:p.Ala148Val, XP_047283246.1:p.Ala134Val, XP_047283233.1:p.Ala148Val, XP_047283234.1:p.Ala148Val, XP_047283235.1:p.Ala134Val, XP_047283238.1:p.Ala148Val, XP_047283237.1:p.Ala134Val, XP_047283240.1:p.Ala148Val, XP_047283239.1:p.Ala134Val, XP_047283241.1:p.Ala134Val, XP_047283243.1:p.Ala134Val, XP_047283244.1:p.Ala134Val, XP_047283253.1:p.Ala148Val, XP_047283247.1:p.Ala148Val, XP_047283249.1:p.Ala148Val, XP_047283248.1:p.Ala134Val, XP_047283250.1:p.Ala148Val, XP_047283251.1:p.Ala134Val, XP_047283252.1:p.Ala134Val, XP_047283254.1:p.Ala148Val, XP_047283256.1:p.Ala148Val, XP_047283255.1:p.Ala134Val, XP_047283257.1:p.Ala134Val, XP_047283258.1:p.Ala134Val, XP_047283259.1:p.Ala134Val, XP_047283260.1:p.Ala148Val, XP_047283262.1:p.Ala148Val, XP_047283261.1:p.Ala134Val, XP_047283263.1:p.Ala134Val, XP_047283266.1:p.Ala148Val, XP_047283264.1:p.Ala134Val, XP_047283265.1:p.Ala134Val

                    10.

                    rs1484290767 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:76472592 (GRCh38)
                      11:76183636 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:76472591:C:T
                      Gene:
                      EMSY (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.76472592C>T, NC_000011.9:g.76183636C>T, XM_005274112.6:c.752C>T, XM_005274112.5:c.752C>T, XM_005274112.4:c.752C>T, XM_005274112.3:c.752C>T, XM_005274112.2:c.752C>T, XM_005274112.1:c.752C>T, NM_020193.5:c.860C>T, NM_020193.4:c.860C>T, NM_020193.3:c.860C>T, XM_006718638.5:c.863C>T, XM_006718638.4:c.863C>T, XM_006718638.3:c.863C>T, XM_006718638.2:c.863C>T, XM_006718638.1:c.863C>T, XM_006718637.5:c.905C>T, XM_006718637.4:c.905C>T, XM_006718637.3:c.905C>T, XM_006718637.2:c.905C>T, XM_006718637.1:c.905C>T, NM_001300942.2:c.905C>T, NM_001300942.1:c.905C>T, NM_001300944.2:c.905C>T, NM_001300944.1:c.905C>T, NM_001300943.2:c.863C>T, NM_001300943.1:c.863C>T, XM_047427269.1:c.905C>T, XM_047427273.1:c.905C>T, XM_047427272.1:c.863C>T, XM_047427274.1:c.860C>T, XM_047427267.1:c.902C>T, XM_047427275.1:c.863C>T, XM_047427268.1:c.902C>T, XM_047427280.1:c.752C>T, XM_047427271.1:c.860C>T, XM_047427286.1:c.710C>T, XM_047427289.1:c.863C>T, XM_047427276.1:c.752C>T, XM_047427290.1:c.710C>T, XM_047427277.1:c.905C>T, XM_047427278.1:c.902C>T, XM_047427279.1:c.710C>T, XM_047427282.1:c.905C>T, XM_047427281.1:c.863C>T, XM_047427284.1:c.902C>T, XM_047427283.1:c.860C>T, XM_047427285.1:c.710C>T, XM_047427287.1:c.863C>T, XM_047427288.1:c.860C>T, XM_047427297.1:c.905C>T, XM_047427291.1:c.752C>T, XM_047427293.1:c.752C>T, XM_047427292.1:c.710C>T, XM_047427294.1:c.902C>T, XM_047427295.1:c.710C>T, XM_047427296.1:c.863C>T, XM_047427298.1:c.905C>T, XM_047427300.1:c.905C>T, XM_047427299.1:c.863C>T, XM_047427301.1:c.860C>T, XM_047427302.1:c.863C>T, XM_047427303.1:c.860C>T, XM_047427304.1:c.752C>T, XM_047427306.1:c.752C>T, XM_047427305.1:c.710C>T, XM_047427307.1:c.863C>T, XM_047427310.1:c.905C>T, XM_047427308.1:c.863C>T, XM_047427309.1:c.710C>T, XP_005274169.1:p.Ser251Leu, NP_064578.2:p.Ser287Leu, XP_006718701.1:p.Ser288Leu, XP_006718700.1:p.Ser302Leu, NP_001287871.1:p.Ser302Leu, NP_001287873.1:p.Ser302Leu, NP_001287872.1:p.Ser288Leu, XP_047283225.1:p.Ser302Leu, XP_047283229.1:p.Ser302Leu, XP_047283228.1:p.Ser288Leu, XP_047283230.1:p.Ser287Leu, XP_047283223.1:p.Ser301Leu, XP_047283231.1:p.Ser288Leu, XP_047283224.1:p.Ser301Leu, XP_047283236.1:p.Ser251Leu, XP_047283227.1:p.Ser287Leu, XP_047283242.1:p.Ser237Leu, XP_047283245.1:p.Ser288Leu, XP_047283232.1:p.Ser251Leu, XP_047283246.1:p.Ser237Leu, XP_047283233.1:p.Ser302Leu, XP_047283234.1:p.Ser301Leu, XP_047283235.1:p.Ser237Leu, XP_047283238.1:p.Ser302Leu, XP_047283237.1:p.Ser288Leu, XP_047283240.1:p.Ser301Leu, XP_047283239.1:p.Ser287Leu, XP_047283241.1:p.Ser237Leu, XP_047283243.1:p.Ser288Leu, XP_047283244.1:p.Ser287Leu, XP_047283253.1:p.Ser302Leu, XP_047283247.1:p.Ser251Leu, XP_047283249.1:p.Ser251Leu, XP_047283248.1:p.Ser237Leu, XP_047283250.1:p.Ser301Leu, XP_047283251.1:p.Ser237Leu, XP_047283252.1:p.Ser288Leu, XP_047283254.1:p.Ser302Leu, XP_047283256.1:p.Ser302Leu, XP_047283255.1:p.Ser288Leu, XP_047283257.1:p.Ser287Leu, XP_047283258.1:p.Ser288Leu, XP_047283259.1:p.Ser287Leu, XP_047283260.1:p.Ser251Leu, XP_047283262.1:p.Ser251Leu, XP_047283261.1:p.Ser237Leu, XP_047283263.1:p.Ser288Leu, XP_047283266.1:p.Ser302Leu, XP_047283264.1:p.Ser288Leu, XP_047283265.1:p.Ser237Leu

                      11.

                      rs1483966388 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,C [Show Flanks]
                        Chromosome:
                        11:76544755 (GRCh38)
                        11:76255799 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:76544754:T:A,NC_000011.10:76544754:T:C
                        Gene:
                        EMSY (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by cluster
                        HGVS:
                        NC_000011.10:g.76544755T>A, NC_000011.10:g.76544755T>C, NC_000011.9:g.76255799T>A, NC_000011.9:g.76255799T>C, XM_005274112.6:c.3056T>A, XM_005274112.6:c.3056T>C, XM_005274112.5:c.3056T>A, XM_005274112.5:c.3056T>C, XM_005274112.4:c.3056T>A, XM_005274112.4:c.3056T>C, XM_005274112.3:c.3056T>A, XM_005274112.3:c.3056T>C, XM_005274112.2:c.3056T>A, XM_005274112.2:c.3056T>C, XM_005274112.1:c.3056T>A, XM_005274112.1:c.3056T>C, NM_020193.5:c.3206T>A, NM_020193.5:c.3206T>C, NM_020193.4:c.3206T>A, NM_020193.4:c.3206T>C, NM_020193.3:c.3206T>A, NM_020193.3:c.3206T>C, XM_006718638.5:c.3167T>A, XM_006718638.5:c.3167T>C, XM_006718638.4:c.3167T>A, XM_006718638.4:c.3167T>C, XM_006718638.3:c.3167T>A, XM_006718638.3:c.3167T>C, XM_006718638.2:c.3167T>A, XM_006718638.2:c.3167T>C, XM_006718638.1:c.3167T>A, XM_006718638.1:c.3167T>C, XM_006718637.5:c.2888T>A, XM_006718637.5:c.2888T>C, XM_006718637.4:c.2888T>A, XM_006718637.4:c.2888T>C, XM_006718637.3:c.2888T>A, XM_006718637.3:c.2888T>C, XM_006718637.2:c.2888T>A, XM_006718637.2:c.2888T>C, XM_006718637.1:c.2888T>A, XM_006718637.1:c.2888T>C, NM_001300942.2:c.3251T>A, NM_001300942.2:c.3251T>C, NM_001300942.1:c.3251T>A, NM_001300942.1:c.3251T>C, NM_001300944.2:c.3209T>A, NM_001300944.2:c.3209T>C, NM_001300944.1:c.3209T>A, NM_001300944.1:c.3209T>C, NM_001300943.2:c.3209T>A, NM_001300943.2:c.3209T>C, NM_001300943.1:c.3209T>A, NM_001300943.1:c.3209T>C, XM_047427269.1:c.3251T>A, XM_047427269.1:c.3251T>C, XM_047427273.1:c.3209T>A, XM_047427273.1:c.3209T>C, XM_047427272.1:c.3209T>A, XM_047427272.1:c.3209T>C, XM_047427274.1:c.3206T>A, XM_047427274.1:c.3206T>C, XM_047427267.1:c.3248T>A, XM_047427267.1:c.3248T>C, XM_047427275.1:c.3167T>A, XM_047427275.1:c.3167T>C, XM_047427268.1:c.3206T>A, XM_047427268.1:c.3206T>C, XM_047427280.1:c.3098T>A, XM_047427280.1:c.3098T>C, XM_047427271.1:c.3164T>A, XM_047427271.1:c.3164T>C, XM_047427286.1:c.3056T>A, XM_047427286.1:c.3056T>C, XM_047427289.1:c.3044T>A, XM_047427289.1:c.3044T>C, XM_047427276.1:c.3098T>A, XM_047427276.1:c.3098T>C, XM_047427290.1:c.3014T>A, XM_047427290.1:c.3014T>C, XM_047427277.1:c.3086T>A, XM_047427277.1:c.3086T>C, XM_047427278.1:c.3083T>A, XM_047427278.1:c.3083T>C, XM_047427279.1:c.3056T>A, XM_047427279.1:c.3056T>C, XM_047427282.1:c.3044T>A, XM_047427282.1:c.3044T>C, XM_047427281.1:c.3044T>A, XM_047427281.1:c.3044T>C, XM_047427284.1:c.3041T>A, XM_047427284.1:c.3041T>C, XM_047427283.1:c.3041T>A, XM_047427283.1:c.3041T>C, XM_047427285.1:c.3014T>A, XM_047427285.1:c.3014T>C, XM_047427287.1:c.3002T>A, XM_047427287.1:c.3002T>C, XM_047427288.1:c.2999T>A, XM_047427288.1:c.2999T>C, XM_047427297.1:c.2888T>A, XM_047427297.1:c.2888T>C, XM_047427291.1:c.2933T>A, XM_047427291.1:c.2933T>C, XM_047427293.1:c.2891T>A, XM_047427293.1:c.2891T>C, XM_047427292.1:c.2891T>A, XM_047427292.1:c.2891T>C, XM_047427294.1:c.2885T>A, XM_047427294.1:c.2885T>C, XM_047427295.1:c.2849T>A, XM_047427295.1:c.2849T>C, XM_047427296.1:c.2846T>A, XM_047427296.1:c.2846T>C, XM_047427298.1:c.3251T>A, XM_047427298.1:c.3251T>C, XM_047427300.1:c.3209T>A, XM_047427300.1:c.3209T>C, XM_047427299.1:c.3209T>A, XM_047427299.1:c.3209T>C, XM_047427301.1:c.3206T>A, XM_047427301.1:c.3206T>C, XM_047427302.1:c.3167T>A, XM_047427302.1:c.3167T>C, XM_047427303.1:c.3164T>A, XM_047427303.1:c.3164T>C, XM_047427304.1:c.3098T>A, XM_047427304.1:c.3098T>C, XM_047427306.1:c.3056T>A, XM_047427306.1:c.3056T>C, XM_047427305.1:c.3056T>A, XM_047427305.1:c.3056T>C, XM_047427307.1:c.3044T>A, XM_047427307.1:c.3044T>C, XM_047427308.1:c.3209T>A, XM_047427308.1:c.3209T>C, XM_047427309.1:c.3056T>A, XM_047427309.1:c.3056T>C, XP_005274169.1:p.Val1019Glu, XP_005274169.1:p.Val1019Ala, NP_064578.2:p.Val1069Glu, NP_064578.2:p.Val1069Ala, XP_006718701.1:p.Val1056Glu, XP_006718701.1:p.Val1056Ala, XP_006718700.1:p.Val963Glu, XP_006718700.1:p.Val963Ala, NP_001287871.1:p.Val1084Glu, NP_001287871.1:p.Val1084Ala, NP_001287873.1:p.Val1070Glu, NP_001287873.1:p.Val1070Ala, NP_001287872.1:p.Val1070Glu, NP_001287872.1:p.Val1070Ala, XP_047283225.1:p.Val1084Glu, XP_047283225.1:p.Val1084Ala, XP_047283229.1:p.Val1070Glu, XP_047283229.1:p.Val1070Ala, XP_047283228.1:p.Val1070Glu, XP_047283228.1:p.Val1070Ala, XP_047283230.1:p.Val1069Glu, XP_047283230.1:p.Val1069Ala, XP_047283223.1:p.Val1083Glu, XP_047283223.1:p.Val1083Ala, XP_047283231.1:p.Val1056Glu, XP_047283231.1:p.Val1056Ala, XP_047283224.1:p.Val1069Glu, XP_047283224.1:p.Val1069Ala, XP_047283236.1:p.Val1033Glu, XP_047283236.1:p.Val1033Ala, XP_047283227.1:p.Val1055Glu, XP_047283227.1:p.Val1055Ala, XP_047283242.1:p.Val1019Glu, XP_047283242.1:p.Val1019Ala, XP_047283245.1:p.Val1015Glu, XP_047283245.1:p.Val1015Ala, XP_047283232.1:p.Val1033Glu, XP_047283232.1:p.Val1033Ala, XP_047283246.1:p.Val1005Glu, XP_047283246.1:p.Val1005Ala, XP_047283233.1:p.Val1029Glu, XP_047283233.1:p.Val1029Ala, XP_047283234.1:p.Val1028Glu, XP_047283234.1:p.Val1028Ala, XP_047283235.1:p.Val1019Glu, XP_047283235.1:p.Val1019Ala, XP_047283238.1:p.Val1015Glu, XP_047283238.1:p.Val1015Ala, XP_047283237.1:p.Val1015Glu, XP_047283237.1:p.Val1015Ala, XP_047283240.1:p.Val1014Glu, XP_047283240.1:p.Val1014Ala, XP_047283239.1:p.Val1014Glu, XP_047283239.1:p.Val1014Ala, XP_047283241.1:p.Val1005Glu, XP_047283241.1:p.Val1005Ala, XP_047283243.1:p.Val1001Glu, XP_047283243.1:p.Val1001Ala, XP_047283244.1:p.Val1000Glu, XP_047283244.1:p.Val1000Ala, XP_047283253.1:p.Val963Glu, XP_047283253.1:p.Val963Ala, XP_047283247.1:p.Val978Glu, XP_047283247.1:p.Val978Ala, XP_047283249.1:p.Val964Glu, XP_047283249.1:p.Val964Ala, XP_047283248.1:p.Val964Glu, XP_047283248.1:p.Val964Ala, XP_047283250.1:p.Val962Glu, XP_047283250.1:p.Val962Ala, XP_047283251.1:p.Val950Glu, XP_047283251.1:p.Val950Ala, XP_047283252.1:p.Val949Glu, XP_047283252.1:p.Val949Ala, XP_047283254.1:p.Val1084Glu, XP_047283254.1:p.Val1084Ala, XP_047283256.1:p.Val1070Glu, XP_047283256.1:p.Val1070Ala, XP_047283255.1:p.Val1070Glu, XP_047283255.1:p.Val1070Ala, XP_047283257.1:p.Val1069Glu, XP_047283257.1:p.Val1069Ala, XP_047283258.1:p.Val1056Glu, XP_047283258.1:p.Val1056Ala, XP_047283259.1:p.Val1055Glu, XP_047283259.1:p.Val1055Ala, XP_047283260.1:p.Val1033Glu, XP_047283260.1:p.Val1033Ala, XP_047283262.1:p.Val1019Glu, XP_047283262.1:p.Val1019Ala, XP_047283261.1:p.Val1019Glu, XP_047283261.1:p.Val1019Ala, XP_047283263.1:p.Val1015Glu, XP_047283263.1:p.Val1015Ala, XP_047283264.1:p.Val1070Glu, XP_047283264.1:p.Val1070Ala, XP_047283265.1:p.Val1019Glu, XP_047283265.1:p.Val1019Ala

                        12.

                        rs1483956443 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:76544526 (GRCh38)
                          11:76255570 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:76544525:C:G
                          Gene:
                          EMSY (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000011.10:g.76544526C>G, NC_000011.9:g.76255570C>G, XM_005274112.6:c.2827C>G, XM_005274112.5:c.2827C>G, XM_005274112.4:c.2827C>G, XM_005274112.3:c.2827C>G, XM_005274112.2:c.2827C>G, XM_005274112.1:c.2827C>G, NM_020193.5:c.2977C>G, NM_020193.4:c.2977C>G, NM_020193.3:c.2977C>G, XM_006718638.5:c.2938C>G, XM_006718638.4:c.2938C>G, XM_006718638.3:c.2938C>G, XM_006718638.2:c.2938C>G, XM_006718638.1:c.2938C>G, XM_006718637.5:c.2659C>G, XM_006718637.4:c.2659C>G, XM_006718637.3:c.2659C>G, XM_006718637.2:c.2659C>G, XM_006718637.1:c.2659C>G, NM_001300942.2:c.3022C>G, NM_001300942.1:c.3022C>G, NM_001300944.2:c.2980C>G, NM_001300944.1:c.2980C>G, NM_001300943.2:c.2980C>G, NM_001300943.1:c.2980C>G, XM_047427269.1:c.3022C>G, XM_047427273.1:c.2980C>G, XM_047427272.1:c.2980C>G, XM_047427274.1:c.2977C>G, XM_047427267.1:c.3019C>G, XM_047427275.1:c.2938C>G, XM_047427268.1:c.2977C>G, XM_047427280.1:c.2869C>G, XM_047427271.1:c.2935C>G, XM_047427286.1:c.2827C>G, XM_047427289.1:c.2815C>G, XM_047427276.1:c.2869C>G, XM_047427290.1:c.2785C>G, XM_047427277.1:c.2857C>G, XM_047427278.1:c.2854C>G, XM_047427279.1:c.2827C>G, XM_047427282.1:c.2815C>G, XM_047427281.1:c.2815C>G, XM_047427284.1:c.2812C>G, XM_047427283.1:c.2812C>G, XM_047427285.1:c.2785C>G, XM_047427287.1:c.2773C>G, XM_047427288.1:c.2770C>G, XM_047427297.1:c.2659C>G, XM_047427291.1:c.2704C>G, XM_047427293.1:c.2662C>G, XM_047427292.1:c.2662C>G, XM_047427294.1:c.2656C>G, XM_047427295.1:c.2620C>G, XM_047427296.1:c.2617C>G, XM_047427298.1:c.3022C>G, XM_047427300.1:c.2980C>G, XM_047427299.1:c.2980C>G, XM_047427301.1:c.2977C>G, XM_047427302.1:c.2938C>G, XM_047427303.1:c.2935C>G, XM_047427304.1:c.2869C>G, XM_047427306.1:c.2827C>G, XM_047427305.1:c.2827C>G, XM_047427307.1:c.2815C>G, XM_047427308.1:c.2980C>G, XM_047427309.1:c.2827C>G, XP_005274169.1:p.Gln943Glu, NP_064578.2:p.Gln993Glu, XP_006718701.1:p.Gln980Glu, XP_006718700.1:p.Gln887Glu, NP_001287871.1:p.Gln1008Glu, NP_001287873.1:p.Gln994Glu, NP_001287872.1:p.Gln994Glu, XP_047283225.1:p.Gln1008Glu, XP_047283229.1:p.Gln994Glu, XP_047283228.1:p.Gln994Glu, XP_047283230.1:p.Gln993Glu, XP_047283223.1:p.Gln1007Glu, XP_047283231.1:p.Gln980Glu, XP_047283224.1:p.Gln993Glu, XP_047283236.1:p.Gln957Glu, XP_047283227.1:p.Gln979Glu, XP_047283242.1:p.Gln943Glu, XP_047283245.1:p.Gln939Glu, XP_047283232.1:p.Gln957Glu, XP_047283246.1:p.Gln929Glu, XP_047283233.1:p.Gln953Glu, XP_047283234.1:p.Gln952Glu, XP_047283235.1:p.Gln943Glu, XP_047283238.1:p.Gln939Glu, XP_047283237.1:p.Gln939Glu, XP_047283240.1:p.Gln938Glu, XP_047283239.1:p.Gln938Glu, XP_047283241.1:p.Gln929Glu, XP_047283243.1:p.Gln925Glu, XP_047283244.1:p.Gln924Glu, XP_047283253.1:p.Gln887Glu, XP_047283247.1:p.Gln902Glu, XP_047283249.1:p.Gln888Glu, XP_047283248.1:p.Gln888Glu, XP_047283250.1:p.Gln886Glu, XP_047283251.1:p.Gln874Glu, XP_047283252.1:p.Gln873Glu, XP_047283254.1:p.Gln1008Glu, XP_047283256.1:p.Gln994Glu, XP_047283255.1:p.Gln994Glu, XP_047283257.1:p.Gln993Glu, XP_047283258.1:p.Gln980Glu, XP_047283259.1:p.Gln979Glu, XP_047283260.1:p.Gln957Glu, XP_047283262.1:p.Gln943Glu, XP_047283261.1:p.Gln943Glu, XP_047283263.1:p.Gln939Glu, XP_047283264.1:p.Gln994Glu, XP_047283265.1:p.Gln943Glu

                          13.

                          rs1482971456 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:76535991 (GRCh38)
                            11:76247035 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:76535990:A:G
                            Gene:
                            EMSY (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant
                            HGVS:
                            NC_000011.10:g.76535991A>G, NC_000011.9:g.76247035A>G, XM_005274112.6:c.2183A>G, XM_005274112.5:c.2183A>G, XM_005274112.4:c.2183A>G, XM_005274112.3:c.2183A>G, XM_005274112.2:c.2183A>G, XM_005274112.1:c.2183A>G, NM_020193.5:c.2291A>G, NM_020193.4:c.2291A>G, NM_020193.3:c.2291A>G, XM_006718638.5:c.2294A>G, XM_006718638.4:c.2294A>G, XM_006718638.3:c.2294A>G, XM_006718638.2:c.2294A>G, XM_006718638.1:c.2294A>G, NM_001300942.2:c.2336A>G, NM_001300942.1:c.2336A>G, NM_001300944.2:c.2336A>G, NM_001300944.1:c.2336A>G, NM_001300943.2:c.2294A>G, NM_001300943.1:c.2294A>G, XM_047427269.1:c.2336A>G, XM_047427273.1:c.2336A>G, XM_047427272.1:c.2294A>G, XM_047427274.1:c.2291A>G, XM_047427267.1:c.2333A>G, XM_047427275.1:c.2294A>G, XM_047427268.1:c.2333A>G, XM_047427280.1:c.2183A>G, XM_047427271.1:c.2291A>G, XM_047427286.1:c.2141A>G, XM_047427276.1:c.2183A>G, XM_047427290.1:c.2141A>G, XM_047427279.1:c.2141A>G, XM_047427285.1:c.2141A>G, XM_047427298.1:c.2336A>G, XM_047427300.1:c.2336A>G, XM_047427299.1:c.2294A>G, XM_047427301.1:c.2291A>G, XM_047427302.1:c.2294A>G, XM_047427303.1:c.2291A>G, XM_047427304.1:c.2183A>G, XM_047427306.1:c.2183A>G, XM_047427305.1:c.2141A>G, XM_047427310.1:c.2336A>G, XM_047427308.1:c.2294A>G, XM_047427309.1:c.2141A>G, XP_005274169.1:p.Asp728Gly, NP_064578.2:p.Asp764Gly, XP_006718701.1:p.Asp765Gly, NP_001287871.1:p.Asp779Gly, NP_001287873.1:p.Asp779Gly, NP_001287872.1:p.Asp765Gly, XP_047283225.1:p.Asp779Gly, XP_047283229.1:p.Asp779Gly, XP_047283228.1:p.Asp765Gly, XP_047283230.1:p.Asp764Gly, XP_047283223.1:p.Asp778Gly, XP_047283231.1:p.Asp765Gly, XP_047283224.1:p.Asp778Gly, XP_047283236.1:p.Asp728Gly, XP_047283227.1:p.Asp764Gly, XP_047283242.1:p.Asp714Gly, XP_047283232.1:p.Asp728Gly, XP_047283246.1:p.Asp714Gly, XP_047283235.1:p.Asp714Gly, XP_047283241.1:p.Asp714Gly, XP_047283254.1:p.Asp779Gly, XP_047283256.1:p.Asp779Gly, XP_047283255.1:p.Asp765Gly, XP_047283257.1:p.Asp764Gly, XP_047283258.1:p.Asp765Gly, XP_047283259.1:p.Asp764Gly, XP_047283260.1:p.Asp728Gly, XP_047283262.1:p.Asp728Gly, XP_047283261.1:p.Asp714Gly, XP_047283266.1:p.Asp779Gly, XP_047283264.1:p.Asp765Gly, XP_047283265.1:p.Asp714Gly

                            14.

                            rs1482453001 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:76528336 (GRCh38)
                              11:76239380 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:76528335:A:G
                              Gene:
                              EMSY (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000142/2 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000011.10:g.76528336A>G, NC_000011.9:g.76239380A>G, XM_005274112.6:c.1956A>G, XM_005274112.5:c.1956A>G, XM_005274112.4:c.1956A>G, XM_005274112.3:c.1956A>G, XM_005274112.2:c.1956A>G, XM_005274112.1:c.1956A>G, NM_020193.5:c.2064A>G, NM_020193.4:c.2064A>G, NM_020193.3:c.2064A>G, XM_006718638.5:c.2067A>G, XM_006718638.4:c.2067A>G, XM_006718638.3:c.2067A>G, XM_006718638.2:c.2067A>G, XM_006718638.1:c.2067A>G, XM_006718637.5:c.2109A>G, XM_006718637.4:c.2109A>G, XM_006718637.3:c.2109A>G, XM_006718637.2:c.2109A>G, XM_006718637.1:c.2109A>G, NM_001300942.2:c.2109A>G, NM_001300942.1:c.2109A>G, NM_001300944.2:c.2109A>G, NM_001300944.1:c.2109A>G, NM_001300943.2:c.2067A>G, NM_001300943.1:c.2067A>G, XM_047427269.1:c.2109A>G, XM_047427273.1:c.2109A>G, XM_047427272.1:c.2067A>G, XM_047427274.1:c.2064A>G, XM_047427267.1:c.2106A>G, XM_047427275.1:c.2067A>G, XM_047427268.1:c.2106A>G, XM_047427280.1:c.1956A>G, XM_047427271.1:c.2064A>G, XM_047427286.1:c.1914A>G, XM_047427289.1:c.2067A>G, XM_047427276.1:c.1956A>G, XM_047427290.1:c.1914A>G, XM_047427277.1:c.2109A>G, XM_047427278.1:c.2106A>G, XM_047427279.1:c.1914A>G, XM_047427282.1:c.2109A>G, XM_047427281.1:c.2067A>G, XM_047427284.1:c.2106A>G, XM_047427283.1:c.2064A>G, XM_047427285.1:c.1914A>G, XM_047427287.1:c.2067A>G, XM_047427288.1:c.2064A>G, XM_047427297.1:c.2109A>G, XM_047427291.1:c.1956A>G, XM_047427293.1:c.1956A>G, XM_047427292.1:c.1914A>G, XM_047427294.1:c.2106A>G, XM_047427295.1:c.1914A>G, XM_047427296.1:c.2067A>G, XM_047427298.1:c.2109A>G, XM_047427300.1:c.2109A>G, XM_047427299.1:c.2067A>G, XM_047427301.1:c.2064A>G, XM_047427302.1:c.2067A>G, XM_047427303.1:c.2064A>G, XM_047427304.1:c.1956A>G, XM_047427306.1:c.1956A>G, XM_047427305.1:c.1914A>G, XM_047427307.1:c.2067A>G, XM_047427310.1:c.2109A>G, XM_047427308.1:c.2067A>G, XM_047427309.1:c.1914A>G

                              15.

                              rs1482226530 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                11:76464005 (GRCh38)
                                11:76175049 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:76464004:A:C
                                Gene:
                                EMSY (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0./0 (KOREAN)
                                HGVS:
                                NC_000011.10:g.76464005A>C, NC_000011.9:g.76175049A>C, XM_005274112.6:c.648A>C, XM_005274112.5:c.648A>C, XM_005274112.4:c.648A>C, XM_005274112.3:c.648A>C, XM_005274112.2:c.648A>C, XM_005274112.1:c.648A>C, NM_020193.5:c.756A>C, NM_020193.4:c.756A>C, NM_020193.3:c.756A>C, XM_006718638.5:c.759A>C, XM_006718638.4:c.759A>C, XM_006718638.3:c.759A>C, XM_006718638.2:c.759A>C, XM_006718638.1:c.759A>C, XM_006718637.5:c.801A>C, XM_006718637.4:c.801A>C, XM_006718637.3:c.801A>C, XM_006718637.2:c.801A>C, XM_006718637.1:c.801A>C, NM_001300942.2:c.801A>C, NM_001300942.1:c.801A>C, NM_001300944.2:c.801A>C, NM_001300944.1:c.801A>C, NM_001300943.2:c.759A>C, NM_001300943.1:c.759A>C, XM_047427269.1:c.801A>C, XM_047427273.1:c.801A>C, XM_047427272.1:c.759A>C, XM_047427274.1:c.756A>C, XM_047427267.1:c.798A>C, XM_047427275.1:c.759A>C, XM_047427268.1:c.798A>C, XM_047427280.1:c.648A>C, XM_047427271.1:c.756A>C, XM_047427286.1:c.606A>C, XM_047427289.1:c.759A>C, XM_047427276.1:c.648A>C, XM_047427290.1:c.606A>C, XM_047427277.1:c.801A>C, XM_047427278.1:c.798A>C, XM_047427279.1:c.606A>C, XM_047427282.1:c.801A>C, XM_047427281.1:c.759A>C, XM_047427284.1:c.798A>C, XM_047427283.1:c.756A>C, XM_047427285.1:c.606A>C, XM_047427287.1:c.759A>C, XM_047427288.1:c.756A>C, XM_047427297.1:c.801A>C, XM_047427291.1:c.648A>C, XM_047427293.1:c.648A>C, XM_047427292.1:c.606A>C, XM_047427294.1:c.798A>C, XM_047427295.1:c.606A>C, XM_047427296.1:c.759A>C, XM_047427298.1:c.801A>C, XM_047427300.1:c.801A>C, XM_047427299.1:c.759A>C, XM_047427301.1:c.756A>C, XM_047427302.1:c.759A>C, XM_047427303.1:c.756A>C, XM_047427304.1:c.648A>C, XM_047427306.1:c.648A>C, XM_047427305.1:c.606A>C, XM_047427307.1:c.759A>C, XM_047427310.1:c.801A>C, XM_047427308.1:c.759A>C, XM_047427309.1:c.606A>C, XP_005274169.1:p.Leu216Phe, NP_064578.2:p.Leu252Phe, XP_006718701.1:p.Leu253Phe, XP_006718700.1:p.Leu267Phe, NP_001287871.1:p.Leu267Phe, NP_001287873.1:p.Leu267Phe, NP_001287872.1:p.Leu253Phe, XP_047283225.1:p.Leu267Phe, XP_047283229.1:p.Leu267Phe, XP_047283228.1:p.Leu253Phe, XP_047283230.1:p.Leu252Phe, XP_047283223.1:p.Leu266Phe, XP_047283231.1:p.Leu253Phe, XP_047283224.1:p.Leu266Phe, XP_047283236.1:p.Leu216Phe, XP_047283227.1:p.Leu252Phe, XP_047283242.1:p.Leu202Phe, XP_047283245.1:p.Leu253Phe, XP_047283232.1:p.Leu216Phe, XP_047283246.1:p.Leu202Phe, XP_047283233.1:p.Leu267Phe, XP_047283234.1:p.Leu266Phe, XP_047283235.1:p.Leu202Phe, XP_047283238.1:p.Leu267Phe, XP_047283237.1:p.Leu253Phe, XP_047283240.1:p.Leu266Phe, XP_047283239.1:p.Leu252Phe, XP_047283241.1:p.Leu202Phe, XP_047283243.1:p.Leu253Phe, XP_047283244.1:p.Leu252Phe, XP_047283253.1:p.Leu267Phe, XP_047283247.1:p.Leu216Phe, XP_047283249.1:p.Leu216Phe, XP_047283248.1:p.Leu202Phe, XP_047283250.1:p.Leu266Phe, XP_047283251.1:p.Leu202Phe, XP_047283252.1:p.Leu253Phe, XP_047283254.1:p.Leu267Phe, XP_047283256.1:p.Leu267Phe, XP_047283255.1:p.Leu253Phe, XP_047283257.1:p.Leu252Phe, XP_047283258.1:p.Leu253Phe, XP_047283259.1:p.Leu252Phe, XP_047283260.1:p.Leu216Phe, XP_047283262.1:p.Leu216Phe, XP_047283261.1:p.Leu202Phe, XP_047283263.1:p.Leu253Phe, XP_047283266.1:p.Leu267Phe, XP_047283264.1:p.Leu253Phe, XP_047283265.1:p.Leu202Phe

                                16.

                                rs1481027839 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:76516306 (GRCh38)
                                  11:76227350 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:76516305:G:A
                                  Gene:
                                  EMSY (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.76516306G>A, NC_000011.9:g.76227350G>A, XM_005274112.6:c.1570G>A, XM_005274112.5:c.1570G>A, XM_005274112.4:c.1570G>A, XM_005274112.3:c.1570G>A, XM_005274112.2:c.1570G>A, XM_005274112.1:c.1570G>A, NM_020193.5:c.1678G>A, NM_020193.4:c.1678G>A, NM_020193.3:c.1678G>A, XM_006718638.5:c.1681G>A, XM_006718638.4:c.1681G>A, XM_006718638.3:c.1681G>A, XM_006718638.2:c.1681G>A, XM_006718638.1:c.1681G>A, XM_006718637.5:c.1723G>A, XM_006718637.4:c.1723G>A, XM_006718637.3:c.1723G>A, XM_006718637.2:c.1723G>A, XM_006718637.1:c.1723G>A, NM_001300942.2:c.1723G>A, NM_001300942.1:c.1723G>A, NM_001300944.2:c.1723G>A, NM_001300944.1:c.1723G>A, NM_001300943.2:c.1681G>A, NM_001300943.1:c.1681G>A, XM_047427269.1:c.1723G>A, XM_047427273.1:c.1723G>A, XM_047427272.1:c.1681G>A, XM_047427274.1:c.1678G>A, XM_047427267.1:c.1720G>A, XM_047427275.1:c.1681G>A, XM_047427268.1:c.1720G>A, XM_047427280.1:c.1570G>A, XM_047427271.1:c.1678G>A, XM_047427286.1:c.1528G>A, XM_047427289.1:c.1681G>A, XM_047427276.1:c.1570G>A, XM_047427290.1:c.1528G>A, XM_047427277.1:c.1723G>A, XM_047427278.1:c.1720G>A, XM_047427279.1:c.1528G>A, XM_047427282.1:c.1723G>A, XM_047427281.1:c.1681G>A, XM_047427284.1:c.1720G>A, XM_047427283.1:c.1678G>A, XM_047427285.1:c.1528G>A, XM_047427287.1:c.1681G>A, XM_047427288.1:c.1678G>A, XM_047427297.1:c.1723G>A, XM_047427291.1:c.1570G>A, XM_047427293.1:c.1570G>A, XM_047427292.1:c.1528G>A, XM_047427294.1:c.1720G>A, XM_047427295.1:c.1528G>A, XM_047427296.1:c.1681G>A, XM_047427298.1:c.1723G>A, XM_047427300.1:c.1723G>A, XM_047427299.1:c.1681G>A, XM_047427301.1:c.1678G>A, XM_047427302.1:c.1681G>A, XM_047427303.1:c.1678G>A, XM_047427304.1:c.1570G>A, XM_047427306.1:c.1570G>A, XM_047427305.1:c.1528G>A, XM_047427307.1:c.1681G>A, XM_047427310.1:c.1723G>A, XM_047427308.1:c.1681G>A, XM_047427309.1:c.1528G>A, XP_005274169.1:p.Val524Ile, NP_064578.2:p.Val560Ile, XP_006718701.1:p.Val561Ile, XP_006718700.1:p.Val575Ile, NP_001287871.1:p.Val575Ile, NP_001287873.1:p.Val575Ile, NP_001287872.1:p.Val561Ile, XP_047283225.1:p.Val575Ile, XP_047283229.1:p.Val575Ile, XP_047283228.1:p.Val561Ile, XP_047283230.1:p.Val560Ile, XP_047283223.1:p.Val574Ile, XP_047283231.1:p.Val561Ile, XP_047283224.1:p.Val574Ile, XP_047283236.1:p.Val524Ile, XP_047283227.1:p.Val560Ile, XP_047283242.1:p.Val510Ile, XP_047283245.1:p.Val561Ile, XP_047283232.1:p.Val524Ile, XP_047283246.1:p.Val510Ile, XP_047283233.1:p.Val575Ile, XP_047283234.1:p.Val574Ile, XP_047283235.1:p.Val510Ile, XP_047283238.1:p.Val575Ile, XP_047283237.1:p.Val561Ile, XP_047283240.1:p.Val574Ile, XP_047283239.1:p.Val560Ile, XP_047283241.1:p.Val510Ile, XP_047283243.1:p.Val561Ile, XP_047283244.1:p.Val560Ile, XP_047283253.1:p.Val575Ile, XP_047283247.1:p.Val524Ile, XP_047283249.1:p.Val524Ile, XP_047283248.1:p.Val510Ile, XP_047283250.1:p.Val574Ile, XP_047283251.1:p.Val510Ile, XP_047283252.1:p.Val561Ile, XP_047283254.1:p.Val575Ile, XP_047283256.1:p.Val575Ile, XP_047283255.1:p.Val561Ile, XP_047283257.1:p.Val560Ile, XP_047283258.1:p.Val561Ile, XP_047283259.1:p.Val560Ile, XP_047283260.1:p.Val524Ile, XP_047283262.1:p.Val524Ile, XP_047283261.1:p.Val510Ile, XP_047283263.1:p.Val561Ile, XP_047283266.1:p.Val575Ile, XP_047283264.1:p.Val561Ile, XP_047283265.1:p.Val510Ile

                                  17.

                                  rs1480966539 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    11:76496382 (GRCh38)
                                    11:76207426 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:76496381:C:A,NC_000011.10:76496381:C:T
                                    Gene:
                                    EMSY (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (GnomAD_exomes)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000019/5 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.76496382C>A, NC_000011.10:g.76496382C>T, NC_000011.9:g.76207426C>A, NC_000011.9:g.76207426C>T, XM_005274112.6:c.1168C>A, XM_005274112.6:c.1168C>T, XM_005274112.5:c.1168C>A, XM_005274112.5:c.1168C>T, XM_005274112.4:c.1168C>A, XM_005274112.4:c.1168C>T, XM_005274112.3:c.1168C>A, XM_005274112.3:c.1168C>T, XM_005274112.2:c.1168C>A, XM_005274112.2:c.1168C>T, XM_005274112.1:c.1168C>A, XM_005274112.1:c.1168C>T, NM_020193.5:c.1276C>A, NM_020193.5:c.1276C>T, NM_020193.4:c.1276C>A, NM_020193.4:c.1276C>T, NM_020193.3:c.1276C>A, NM_020193.3:c.1276C>T, XM_006718638.5:c.1279C>A, XM_006718638.5:c.1279C>T, XM_006718638.4:c.1279C>A, XM_006718638.4:c.1279C>T, XM_006718638.3:c.1279C>A, XM_006718638.3:c.1279C>T, XM_006718638.2:c.1279C>A, XM_006718638.2:c.1279C>T, XM_006718638.1:c.1279C>A, XM_006718638.1:c.1279C>T, XM_006718637.5:c.1321C>A, XM_006718637.5:c.1321C>T, XM_006718637.4:c.1321C>A, XM_006718637.4:c.1321C>T, XM_006718637.3:c.1321C>A, XM_006718637.3:c.1321C>T, XM_006718637.2:c.1321C>A, XM_006718637.2:c.1321C>T, XM_006718637.1:c.1321C>A, XM_006718637.1:c.1321C>T, NM_001300942.2:c.1321C>A, NM_001300942.2:c.1321C>T, NM_001300942.1:c.1321C>A, NM_001300942.1:c.1321C>T, NM_001300944.2:c.1321C>A, NM_001300944.2:c.1321C>T, NM_001300944.1:c.1321C>A, NM_001300944.1:c.1321C>T, NM_001300943.2:c.1279C>A, NM_001300943.2:c.1279C>T, NM_001300943.1:c.1279C>A, NM_001300943.1:c.1279C>T, XM_047427269.1:c.1321C>A, XM_047427269.1:c.1321C>T, XM_047427273.1:c.1321C>A, XM_047427273.1:c.1321C>T, XM_047427272.1:c.1279C>A, XM_047427272.1:c.1279C>T, XM_047427274.1:c.1276C>A, XM_047427274.1:c.1276C>T, XM_047427267.1:c.1318C>A, XM_047427267.1:c.1318C>T, XM_047427275.1:c.1279C>A, XM_047427275.1:c.1279C>T, XM_047427268.1:c.1318C>A, XM_047427268.1:c.1318C>T, XM_047427280.1:c.1168C>A, XM_047427280.1:c.1168C>T, XM_047427271.1:c.1276C>A, XM_047427271.1:c.1276C>T, XM_047427286.1:c.1126C>A, XM_047427286.1:c.1126C>T, XM_047427289.1:c.1279C>A, XM_047427289.1:c.1279C>T, XM_047427276.1:c.1168C>A, XM_047427276.1:c.1168C>T, XM_047427290.1:c.1126C>A, XM_047427290.1:c.1126C>T, XM_047427277.1:c.1321C>A, XM_047427277.1:c.1321C>T, XM_047427278.1:c.1318C>A, XM_047427278.1:c.1318C>T, XM_047427279.1:c.1126C>A, XM_047427279.1:c.1126C>T, XM_047427282.1:c.1321C>A, XM_047427282.1:c.1321C>T, XM_047427281.1:c.1279C>A, XM_047427281.1:c.1279C>T, XM_047427284.1:c.1318C>A, XM_047427284.1:c.1318C>T, XM_047427283.1:c.1276C>A, XM_047427283.1:c.1276C>T, XM_047427285.1:c.1126C>A, XM_047427285.1:c.1126C>T, XM_047427287.1:c.1279C>A, XM_047427287.1:c.1279C>T, XM_047427288.1:c.1276C>A, XM_047427288.1:c.1276C>T, XM_047427297.1:c.1321C>A, XM_047427297.1:c.1321C>T, XM_047427291.1:c.1168C>A, XM_047427291.1:c.1168C>T, XM_047427293.1:c.1168C>A, XM_047427293.1:c.1168C>T, XM_047427292.1:c.1126C>A, XM_047427292.1:c.1126C>T, XM_047427294.1:c.1318C>A, XM_047427294.1:c.1318C>T, XM_047427295.1:c.1126C>A, XM_047427295.1:c.1126C>T, XM_047427296.1:c.1279C>A, XM_047427296.1:c.1279C>T, XM_047427298.1:c.1321C>A, XM_047427298.1:c.1321C>T, XM_047427300.1:c.1321C>A, XM_047427300.1:c.1321C>T, XM_047427299.1:c.1279C>A, XM_047427299.1:c.1279C>T, XM_047427301.1:c.1276C>A, XM_047427301.1:c.1276C>T, XM_047427302.1:c.1279C>A, XM_047427302.1:c.1279C>T, XM_047427303.1:c.1276C>A, XM_047427303.1:c.1276C>T, XM_047427304.1:c.1168C>A, XM_047427304.1:c.1168C>T, XM_047427306.1:c.1168C>A, XM_047427306.1:c.1168C>T, XM_047427305.1:c.1126C>A, XM_047427305.1:c.1126C>T, XM_047427307.1:c.1279C>A, XM_047427307.1:c.1279C>T, XM_047427310.1:c.1321C>A, XM_047427310.1:c.1321C>T, XM_047427308.1:c.1279C>A, XM_047427308.1:c.1279C>T, XM_047427309.1:c.1126C>A, XM_047427309.1:c.1126C>T, XP_005274169.1:p.Pro390Thr, XP_005274169.1:p.Pro390Ser, NP_064578.2:p.Pro426Thr, NP_064578.2:p.Pro426Ser, XP_006718701.1:p.Pro427Thr, XP_006718701.1:p.Pro427Ser, XP_006718700.1:p.Pro441Thr, XP_006718700.1:p.Pro441Ser, NP_001287871.1:p.Pro441Thr, NP_001287871.1:p.Pro441Ser, NP_001287873.1:p.Pro441Thr, NP_001287873.1:p.Pro441Ser, NP_001287872.1:p.Pro427Thr, NP_001287872.1:p.Pro427Ser, XP_047283225.1:p.Pro441Thr, XP_047283225.1:p.Pro441Ser, XP_047283229.1:p.Pro441Thr, XP_047283229.1:p.Pro441Ser, XP_047283228.1:p.Pro427Thr, XP_047283228.1:p.Pro427Ser, XP_047283230.1:p.Pro426Thr, XP_047283230.1:p.Pro426Ser, XP_047283223.1:p.Pro440Thr, XP_047283223.1:p.Pro440Ser, XP_047283231.1:p.Pro427Thr, XP_047283231.1:p.Pro427Ser, XP_047283224.1:p.Pro440Thr, XP_047283224.1:p.Pro440Ser, XP_047283236.1:p.Pro390Thr, XP_047283236.1:p.Pro390Ser, XP_047283227.1:p.Pro426Thr, XP_047283227.1:p.Pro426Ser, XP_047283242.1:p.Pro376Thr, XP_047283242.1:p.Pro376Ser, XP_047283245.1:p.Pro427Thr, XP_047283245.1:p.Pro427Ser, XP_047283232.1:p.Pro390Thr, XP_047283232.1:p.Pro390Ser, XP_047283246.1:p.Pro376Thr, XP_047283246.1:p.Pro376Ser, XP_047283233.1:p.Pro441Thr, XP_047283233.1:p.Pro441Ser, XP_047283234.1:p.Pro440Thr, XP_047283234.1:p.Pro440Ser, XP_047283235.1:p.Pro376Thr, XP_047283235.1:p.Pro376Ser, XP_047283238.1:p.Pro441Thr, XP_047283238.1:p.Pro441Ser, XP_047283237.1:p.Pro427Thr, XP_047283237.1:p.Pro427Ser, XP_047283240.1:p.Pro440Thr, XP_047283240.1:p.Pro440Ser, XP_047283239.1:p.Pro426Thr, XP_047283239.1:p.Pro426Ser, XP_047283241.1:p.Pro376Thr, XP_047283241.1:p.Pro376Ser, XP_047283243.1:p.Pro427Thr, XP_047283243.1:p.Pro427Ser, XP_047283244.1:p.Pro426Thr, XP_047283244.1:p.Pro426Ser, XP_047283253.1:p.Pro441Thr, XP_047283253.1:p.Pro441Ser, XP_047283247.1:p.Pro390Thr, XP_047283247.1:p.Pro390Ser, XP_047283249.1:p.Pro390Thr, XP_047283249.1:p.Pro390Ser, XP_047283248.1:p.Pro376Thr, XP_047283248.1:p.Pro376Ser, XP_047283250.1:p.Pro440Thr, XP_047283250.1:p.Pro440Ser, XP_047283251.1:p.Pro376Thr, XP_047283251.1:p.Pro376Ser, XP_047283252.1:p.Pro427Thr, XP_047283252.1:p.Pro427Ser, XP_047283254.1:p.Pro441Thr, XP_047283254.1:p.Pro441Ser, XP_047283256.1:p.Pro441Thr, XP_047283256.1:p.Pro441Ser, XP_047283255.1:p.Pro427Thr, XP_047283255.1:p.Pro427Ser, XP_047283257.1:p.Pro426Thr, XP_047283257.1:p.Pro426Ser, XP_047283258.1:p.Pro427Thr, XP_047283258.1:p.Pro427Ser, XP_047283259.1:p.Pro426Thr, XP_047283259.1:p.Pro426Ser, XP_047283260.1:p.Pro390Thr, XP_047283260.1:p.Pro390Ser, XP_047283262.1:p.Pro390Thr, XP_047283262.1:p.Pro390Ser, XP_047283261.1:p.Pro376Thr, XP_047283261.1:p.Pro376Ser, XP_047283263.1:p.Pro427Thr, XP_047283263.1:p.Pro427Ser, XP_047283266.1:p.Pro441Thr, XP_047283266.1:p.Pro441Ser, XP_047283264.1:p.Pro427Thr, XP_047283264.1:p.Pro427Ser, XP_047283265.1:p.Pro376Thr, XP_047283265.1:p.Pro376Ser

                                    18.

                                    rs1477260523 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:76546149 (GRCh38)
                                      11:76257193 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:76546148:A:G
                                      Gene:
                                      EMSY (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.76546149A>G, NC_000011.9:g.76257193A>G, XM_005274112.6:c.3476A>G, XM_005274112.5:c.3476A>G, XM_005274112.4:c.3476A>G, XM_005274112.3:c.3476A>G, XM_005274112.2:c.3476A>G, XM_005274112.1:c.3476A>G, NM_020193.5:c.3626A>G, NM_020193.4:c.3626A>G, NM_020193.3:c.3626A>G, XM_006718638.5:c.3587A>G, XM_006718638.4:c.3587A>G, XM_006718638.3:c.3587A>G, XM_006718638.2:c.3587A>G, XM_006718638.1:c.3587A>G, XM_006718637.5:c.3308A>G, XM_006718637.4:c.3308A>G, XM_006718637.3:c.3308A>G, XM_006718637.2:c.3308A>G, XM_006718637.1:c.3308A>G, NM_001300942.2:c.3671A>G, NM_001300942.1:c.3671A>G, NM_001300944.2:c.3629A>G, NM_001300944.1:c.3629A>G, NM_001300943.2:c.3629A>G, NM_001300943.1:c.3629A>G, XM_047427269.1:c.3671A>G, XM_047427273.1:c.3629A>G, XM_047427272.1:c.3629A>G, XM_047427274.1:c.3626A>G, XM_047427267.1:c.3668A>G, XM_047427275.1:c.3587A>G, XM_047427268.1:c.3626A>G, XM_047427280.1:c.3518A>G, XM_047427271.1:c.3584A>G, XM_047427286.1:c.3476A>G, XM_047427289.1:c.3464A>G, XM_047427276.1:c.3518A>G, XM_047427290.1:c.3434A>G, XM_047427277.1:c.3506A>G, XM_047427278.1:c.3503A>G, XM_047427279.1:c.3476A>G, XM_047427282.1:c.3464A>G, XM_047427281.1:c.3464A>G, XM_047427284.1:c.3461A>G, XM_047427283.1:c.3461A>G, XM_047427285.1:c.3434A>G, XM_047427287.1:c.3422A>G, XM_047427288.1:c.3419A>G, XM_047427297.1:c.3308A>G, XM_047427291.1:c.3353A>G, XM_047427293.1:c.3311A>G, XM_047427292.1:c.3311A>G, XM_047427294.1:c.3305A>G, XM_047427295.1:c.3269A>G, XM_047427296.1:c.3266A>G, XP_005274169.1:p.Glu1159Gly, NP_064578.2:p.Glu1209Gly, XP_006718701.1:p.Glu1196Gly, XP_006718700.1:p.Glu1103Gly, NP_001287871.1:p.Glu1224Gly, NP_001287873.1:p.Glu1210Gly, NP_001287872.1:p.Glu1210Gly, XP_047283225.1:p.Glu1224Gly, XP_047283229.1:p.Glu1210Gly, XP_047283228.1:p.Glu1210Gly, XP_047283230.1:p.Glu1209Gly, XP_047283223.1:p.Glu1223Gly, XP_047283231.1:p.Glu1196Gly, XP_047283224.1:p.Glu1209Gly, XP_047283236.1:p.Glu1173Gly, XP_047283227.1:p.Glu1195Gly, XP_047283242.1:p.Glu1159Gly, XP_047283245.1:p.Glu1155Gly, XP_047283232.1:p.Glu1173Gly, XP_047283246.1:p.Glu1145Gly, XP_047283233.1:p.Glu1169Gly, XP_047283234.1:p.Glu1168Gly, XP_047283235.1:p.Glu1159Gly, XP_047283238.1:p.Glu1155Gly, XP_047283237.1:p.Glu1155Gly, XP_047283240.1:p.Glu1154Gly, XP_047283239.1:p.Glu1154Gly, XP_047283241.1:p.Glu1145Gly, XP_047283243.1:p.Glu1141Gly, XP_047283244.1:p.Glu1140Gly, XP_047283253.1:p.Glu1103Gly, XP_047283247.1:p.Glu1118Gly, XP_047283249.1:p.Glu1104Gly, XP_047283248.1:p.Glu1104Gly, XP_047283250.1:p.Glu1102Gly, XP_047283251.1:p.Glu1090Gly, XP_047283252.1:p.Glu1089Gly

                                      19.

                                      rs1475447430 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:76546135 (GRCh38)
                                        11:76257179 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:76546134:A:G
                                        Gene:
                                        EMSY (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.76546135A>G, NC_000011.9:g.76257179A>G, XM_005274112.6:c.3462A>G, XM_005274112.5:c.3462A>G, XM_005274112.4:c.3462A>G, XM_005274112.3:c.3462A>G, XM_005274112.2:c.3462A>G, XM_005274112.1:c.3462A>G, NM_020193.5:c.3612A>G, NM_020193.4:c.3612A>G, NM_020193.3:c.3612A>G, XM_006718638.5:c.3573A>G, XM_006718638.4:c.3573A>G, XM_006718638.3:c.3573A>G, XM_006718638.2:c.3573A>G, XM_006718638.1:c.3573A>G, XM_006718637.5:c.3294A>G, XM_006718637.4:c.3294A>G, XM_006718637.3:c.3294A>G, XM_006718637.2:c.3294A>G, XM_006718637.1:c.3294A>G, NM_001300942.2:c.3657A>G, NM_001300942.1:c.3657A>G, NM_001300944.2:c.3615A>G, NM_001300944.1:c.3615A>G, NM_001300943.2:c.3615A>G, NM_001300943.1:c.3615A>G, XM_047427269.1:c.3657A>G, XM_047427273.1:c.3615A>G, XM_047427272.1:c.3615A>G, XM_047427274.1:c.3612A>G, XM_047427267.1:c.3654A>G, XM_047427275.1:c.3573A>G, XM_047427268.1:c.3612A>G, XM_047427280.1:c.3504A>G, XM_047427271.1:c.3570A>G, XM_047427286.1:c.3462A>G, XM_047427289.1:c.3450A>G, XM_047427276.1:c.3504A>G, XM_047427290.1:c.3420A>G, XM_047427277.1:c.3492A>G, XM_047427278.1:c.3489A>G, XM_047427279.1:c.3462A>G, XM_047427282.1:c.3450A>G, XM_047427281.1:c.3450A>G, XM_047427284.1:c.3447A>G, XM_047427283.1:c.3447A>G, XM_047427285.1:c.3420A>G, XM_047427287.1:c.3408A>G, XM_047427288.1:c.3405A>G, XM_047427297.1:c.3294A>G, XM_047427291.1:c.3339A>G, XM_047427293.1:c.3297A>G, XM_047427292.1:c.3297A>G, XM_047427294.1:c.3291A>G, XM_047427295.1:c.3255A>G, XM_047427296.1:c.3252A>G

                                        20.

                                        rs1475181915 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          11:76526505 (GRCh38)
                                          11:76237549 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:76526504:C:G
                                          Gene:
                                          EMSY (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000142/2 (ALFA)
                                          G=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.76526505C>G, NC_000011.9:g.76237549C>G, XM_005274112.6:c.1757C>G, XM_005274112.5:c.1757C>G, XM_005274112.4:c.1757C>G, XM_005274112.3:c.1757C>G, XM_005274112.2:c.1757C>G, XM_005274112.1:c.1757C>G, NM_020193.5:c.1865C>G, NM_020193.4:c.1865C>G, NM_020193.3:c.1865C>G, XM_006718638.5:c.1868C>G, XM_006718638.4:c.1868C>G, XM_006718638.3:c.1868C>G, XM_006718638.2:c.1868C>G, XM_006718638.1:c.1868C>G, XM_006718637.5:c.1910C>G, XM_006718637.4:c.1910C>G, XM_006718637.3:c.1910C>G, XM_006718637.2:c.1910C>G, XM_006718637.1:c.1910C>G, NM_001300942.2:c.1910C>G, NM_001300942.1:c.1910C>G, NM_001300944.2:c.1910C>G, NM_001300944.1:c.1910C>G, NM_001300943.2:c.1868C>G, NM_001300943.1:c.1868C>G, XM_047427269.1:c.1910C>G, XM_047427273.1:c.1910C>G, XM_047427272.1:c.1868C>G, XM_047427274.1:c.1865C>G, XM_047427267.1:c.1907C>G, XM_047427275.1:c.1868C>G, XM_047427268.1:c.1907C>G, XM_047427280.1:c.1757C>G, XM_047427271.1:c.1865C>G, XM_047427286.1:c.1715C>G, XM_047427289.1:c.1868C>G, XM_047427276.1:c.1757C>G, XM_047427290.1:c.1715C>G, XM_047427277.1:c.1910C>G, XM_047427278.1:c.1907C>G, XM_047427279.1:c.1715C>G, XM_047427282.1:c.1910C>G, XM_047427281.1:c.1868C>G, XM_047427284.1:c.1907C>G, XM_047427283.1:c.1865C>G, XM_047427285.1:c.1715C>G, XM_047427287.1:c.1868C>G, XM_047427288.1:c.1865C>G, XM_047427297.1:c.1910C>G, XM_047427291.1:c.1757C>G, XM_047427293.1:c.1757C>G, XM_047427292.1:c.1715C>G, XM_047427294.1:c.1907C>G, XM_047427295.1:c.1715C>G, XM_047427296.1:c.1868C>G, XM_047427298.1:c.1910C>G, XM_047427300.1:c.1910C>G, XM_047427299.1:c.1868C>G, XM_047427301.1:c.1865C>G, XM_047427302.1:c.1868C>G, XM_047427303.1:c.1865C>G, XM_047427304.1:c.1757C>G, XM_047427306.1:c.1757C>G, XM_047427305.1:c.1715C>G, XM_047427307.1:c.1868C>G, XM_047427310.1:c.1910C>G, XM_047427308.1:c.1868C>G, XM_047427309.1:c.1715C>G, XP_005274169.1:p.Ala586Gly, NP_064578.2:p.Ala622Gly, XP_006718701.1:p.Ala623Gly, XP_006718700.1:p.Ala637Gly, NP_001287871.1:p.Ala637Gly, NP_001287873.1:p.Ala637Gly, NP_001287872.1:p.Ala623Gly, XP_047283225.1:p.Ala637Gly, XP_047283229.1:p.Ala637Gly, XP_047283228.1:p.Ala623Gly, XP_047283230.1:p.Ala622Gly, XP_047283223.1:p.Ala636Gly, XP_047283231.1:p.Ala623Gly, XP_047283224.1:p.Ala636Gly, XP_047283236.1:p.Ala586Gly, XP_047283227.1:p.Ala622Gly, XP_047283242.1:p.Ala572Gly, XP_047283245.1:p.Ala623Gly, XP_047283232.1:p.Ala586Gly, XP_047283246.1:p.Ala572Gly, XP_047283233.1:p.Ala637Gly, XP_047283234.1:p.Ala636Gly, XP_047283235.1:p.Ala572Gly, XP_047283238.1:p.Ala637Gly, XP_047283237.1:p.Ala623Gly, XP_047283240.1:p.Ala636Gly, XP_047283239.1:p.Ala622Gly, XP_047283241.1:p.Ala572Gly, XP_047283243.1:p.Ala623Gly, XP_047283244.1:p.Ala622Gly, XP_047283253.1:p.Ala637Gly, XP_047283247.1:p.Ala586Gly, XP_047283249.1:p.Ala586Gly, XP_047283248.1:p.Ala572Gly, XP_047283250.1:p.Ala636Gly, XP_047283251.1:p.Ala572Gly, XP_047283252.1:p.Ala623Gly, XP_047283254.1:p.Ala637Gly, XP_047283256.1:p.Ala637Gly, XP_047283255.1:p.Ala623Gly, XP_047283257.1:p.Ala622Gly, XP_047283258.1:p.Ala623Gly, XP_047283259.1:p.Ala622Gly, XP_047283260.1:p.Ala586Gly, XP_047283262.1:p.Ala586Gly, XP_047283261.1:p.Ala572Gly, XP_047283263.1:p.Ala623Gly, XP_047283266.1:p.Ala637Gly, XP_047283264.1:p.Ala623Gly, XP_047283265.1:p.Ala572Gly

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