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Items: 1 to 20 of 858

1.

rs1489261802 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    X:66198992 (GRCh38)
    X:65418834 (GRCh37)
    Canonical SPDI:
    NC_000023.11:66198991:G:C
    Gene:
    HEPH (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000022/4 (GnomAD_exomes)
    HGVS:
    NC_000023.11:g.66198992G>C, NC_000023.10:g.65418834G>C, NG_016265.2:g.41402G>C, NM_001130860.6:c.1828G>C, NM_001130860.5:c.1837G>C, NM_001130860.4:c.1837G>C, NM_001130860.3:c.1837G>C, NM_001130860.2:c.1837G>C, NM_138737.6:c.1828G>C, NM_138737.5:c.1990G>C, NM_138737.4:c.1990G>C, NM_138737.3:c.1990G>C, NM_014799.4:c.1027G>C, NM_014799.3:c.1027G>C, NM_014799.2:c.1027G>C, NM_001367232.3:c.1828G>C, NM_001367232.2:c.1837G>C, NM_001367232.1:c.1837G>C, NM_001367233.3:c.1828G>C, NM_001367233.2:c.1837G>C, NM_001367233.1:c.1837G>C, NM_001367236.3:c.1822G>C, NM_001367236.2:c.1831G>C, NM_001367236.1:c.1831G>C, NM_001367234.3:c.1828G>C, NM_001367234.2:c.1837G>C, NM_001367234.1:c.1837G>C, NM_001367238.3:c.1828G>C, NM_001367238.2:c.1837G>C, NM_001367238.1:c.1837G>C, NM_001367239.3:c.1828G>C, NM_001367239.2:c.1837G>C, NM_001367239.1:c.1837G>C, NM_001367240.3:c.1828G>C, NM_001367240.2:c.1837G>C, NM_001367240.1:c.1837G>C, NM_001367241.3:c.1828G>C, NM_001367241.2:c.1837G>C, NM_001367241.1:c.1837G>C, NR_159802.2:n.1885G>C, NR_159802.1:n.1885G>C, NM_001367242.2:c.1027G>C, NM_001367242.1:c.1027G>C, NR_159801.2:n.2065G>C, NR_159801.1:n.2065G>C, NR_159800.1:n.2065G>C, XM_011531073.4:c.1990G>C, XM_011531073.3:c.1990G>C, XM_011531073.2:c.1990G>C, XM_011531073.1:c.1990G>C, XM_011531074.3:c.1990G>C, XM_011531074.2:c.1990G>C, XM_011531074.1:c.1990G>C, XM_011531075.3:c.1990G>C, XM_011531075.2:c.1990G>C, XM_011531075.1:c.1990G>C, XM_017029998.3:c.1990G>C, XM_017029998.2:c.1990G>C, XM_017029998.1:c.1990G>C, XM_047442695.1:c.1837G>C, XM_047442694.1:c.1978G>C, XM_047442698.1:c.1978G>C, XM_047442696.1:c.1990G>C, XM_047442697.1:c.1978G>C, NP_001124332.2:p.Asp610His, NP_620074.4:p.Asp610His, NP_055614.1:p.Asp343His, NP_001354161.2:p.Asp610His, NP_001354162.2:p.Asp610His, NP_001354165.2:p.Asp608His, NP_001354163.2:p.Asp610His, NP_001354167.2:p.Asp610His, NP_001354168.2:p.Asp610His, NP_001354169.2:p.Asp610His, NP_001354170.2:p.Asp610His, NP_001354171.1:p.Asp343His, XP_011529375.1:p.Asp664His, XP_011529376.1:p.Asp664His, XP_011529377.1:p.Asp664His, XP_016885487.1:p.Asp664His, XP_047298651.1:p.Asp613His, XP_047298650.1:p.Asp660His, XP_047298654.1:p.Asp660His, XP_047298652.1:p.Asp664His, XP_047298653.1:p.Asp660His

    2.

    rs1489068033 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:66258919 (GRCh38)
      X:65478761 (GRCh37)
      Canonical SPDI:
      NC_000023.11:66258918:C:T
      Gene:
      HEPH (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000023.11:g.66258919C>T, NC_000023.10:g.65478761C>T, NG_016265.2:g.101329C>T, NM_001130860.6:c.2976C>T, NM_001130860.5:c.2985C>T, NM_001130860.4:c.2985C>T, NM_001130860.3:c.2985C>T, NM_001130860.2:c.2985C>T, NM_138737.6:c.2976C>T, NM_138737.5:c.3138C>T, NM_138737.4:c.3138C>T, NM_138737.3:c.3138C>T, NM_014799.4:c.2175C>T, NM_014799.3:c.2175C>T, NM_014799.2:c.2175C>T, NM_001367232.3:c.2976C>T, NM_001367232.2:c.2985C>T, NM_001367232.1:c.2985C>T, NM_001367233.3:c.2976C>T, NM_001367233.2:c.2985C>T, NM_001367233.1:c.2985C>T, NM_001367236.3:c.2970C>T, NM_001367236.2:c.2979C>T, NM_001367236.1:c.2979C>T, NM_001367234.3:c.2976C>T, NM_001367234.2:c.2985C>T, NM_001367234.1:c.2985C>T, NM_001367238.3:c.2763C>T, NM_001367238.2:c.2772C>T, NM_001367238.1:c.2772C>T, NM_001367239.3:c.2763C>T, NM_001367239.2:c.2772C>T, NM_001367239.1:c.2772C>T, NM_001367240.3:c.2643C>T, NM_001367240.2:c.2652C>T, NM_001367240.1:c.2652C>T, NM_001367241.3:c.2643C>T, NM_001367241.2:c.2652C>T, NM_001367241.1:c.2652C>T, NM_001282141.3:c.2400C>T, NM_001282141.2:c.2409C>T, NM_001282141.1:c.2409C>T, NM_001367243.3:c.2067C>T, NM_001367243.2:c.2076C>T, NM_001367243.1:c.2076C>T, NR_159802.2:n.3902C>T, NR_159802.1:n.3902C>T, NM_001367242.2:c.2175C>T, NM_001367242.1:c.2175C>T, NR_159801.2:n.3323C>T, NR_159801.1:n.3323C>T, NR_159800.1:n.2988C>T, XM_011531073.4:c.3138C>T, XM_011531073.3:c.3138C>T, XM_011531073.2:c.3138C>T, XM_011531073.1:c.3138C>T, XM_011531074.3:c.2925C>T, XM_011531074.2:c.2925C>T, XM_011531074.1:c.2925C>T, XM_011531075.3:c.2805C>T, XM_011531075.2:c.2805C>T, XM_011531075.1:c.2805C>T, XM_017029998.3:c.2805C>T, XM_017029998.2:c.2805C>T, XM_017029998.1:c.2805C>T, XM_047442695.1:c.2985C>T, XM_047442694.1:c.3126C>T, XM_047442698.1:c.2580C>T, XM_047442696.1:c.2925C>T, XM_047442697.1:c.2793C>T

      3.

      rs1487838790 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        X:66162795 (GRCh38)
        X:65382637 (GRCh37)
        Canonical SPDI:
        NC_000023.11:66162794:A:T
        Gene:
        HEPH (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.00001/1 (GnomAD_exomes)
        HGVS:
        NC_000023.11:g.66162795A>T, NC_000023.10:g.65382637A>T, NG_016265.2:g.5205A>T, NM_138737.6:c.-95A>T, NM_138737.5:c.68A>T, NM_138737.4:c.68A>T, NM_138737.3:c.68A>T, XM_011531073.4:c.68A>T, XM_011531073.3:c.68A>T, XM_011531073.2:c.68A>T, XM_011531073.1:c.68A>T, XM_011531074.3:c.68A>T, XM_011531074.2:c.68A>T, XM_011531074.1:c.68A>T, XM_011531075.3:c.68A>T, XM_011531075.2:c.68A>T, XM_011531075.1:c.68A>T, XM_017029998.3:c.68A>T, XM_017029998.2:c.68A>T, XM_017029998.1:c.68A>T, XM_047442695.1:c.-1288A>T, XM_047442694.1:c.31A>T, XM_047442698.1:c.31A>T, XM_047442696.1:c.68A>T, XM_047442697.1:c.31A>T, XP_011529375.1:p.His23Leu, XP_011529376.1:p.His23Leu, XP_011529377.1:p.His23Leu, XP_016885487.1:p.His23Leu, XP_047298650.1:p.Thr11Ser, XP_047298654.1:p.Thr11Ser, XP_047298652.1:p.His23Leu, XP_047298653.1:p.Thr11Ser

        4.

        rs1487605692 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:66173675 (GRCh38)
          X:65393517 (GRCh37)
          Canonical SPDI:
          NC_000023.11:66173674:A:G
          Gene:
          HEPH (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          G=0.00001/1 (GnomAD)
          HGVS:
          NC_000023.11:g.66173675A>G, NC_000023.10:g.65393517A>G, NG_016265.2:g.16085A>G, NM_001130860.6:c.499A>G, NM_001130860.5:c.508A>G, NM_001130860.4:c.508A>G, NM_001130860.3:c.508A>G, NM_001130860.2:c.508A>G, NM_138737.6:c.499A>G, NM_138737.5:c.661A>G, NM_138737.4:c.661A>G, NM_138737.3:c.661A>G, NM_014799.4:c.-303A>G, NM_014799.3:c.-303A>G, NM_014799.2:c.-303A>G, NM_001367232.3:c.499A>G, NM_001367232.2:c.508A>G, NM_001367232.1:c.508A>G, NM_001367233.3:c.499A>G, NM_001367233.2:c.508A>G, NM_001367233.1:c.508A>G, NM_001367236.3:c.499A>G, NM_001367236.2:c.508A>G, NM_001367236.1:c.508A>G, NM_001367234.3:c.499A>G, NM_001367234.2:c.508A>G, NM_001367234.1:c.508A>G, NM_001367238.3:c.499A>G, NM_001367238.2:c.508A>G, NM_001367238.1:c.508A>G, NM_001367239.3:c.499A>G, NM_001367239.2:c.508A>G, NM_001367239.1:c.508A>G, NM_001367240.3:c.499A>G, NM_001367240.2:c.508A>G, NM_001367240.1:c.508A>G, NM_001367241.3:c.499A>G, NM_001367241.2:c.508A>G, NM_001367241.1:c.508A>G, NM_001282141.3:c.499A>G, NM_001282141.2:c.508A>G, NM_001282141.1:c.508A>G, NM_001367243.3:c.499A>G, NM_001367243.2:c.508A>G, NM_001367243.1:c.508A>G, NR_159802.2:n.556A>G, NR_159802.1:n.556A>G, NM_001367242.2:c.-303A>G, NM_001367242.1:c.-303A>G, NR_159801.2:n.736A>G, NR_159801.1:n.736A>G, NR_159800.1:n.736A>G, XM_011531073.4:c.661A>G, XM_011531073.3:c.661A>G, XM_011531073.2:c.661A>G, XM_011531073.1:c.661A>G, XM_011531074.3:c.661A>G, XM_011531074.2:c.661A>G, XM_011531074.1:c.661A>G, XM_011531075.3:c.661A>G, XM_011531075.2:c.661A>G, XM_011531075.1:c.661A>G, XM_017029998.3:c.661A>G, XM_017029998.2:c.661A>G, XM_017029998.1:c.661A>G, XM_047442695.1:c.508A>G, XM_047442694.1:c.649A>G, XM_047442698.1:c.649A>G, XM_047442696.1:c.661A>G, XM_047442697.1:c.649A>G, NP_001124332.2:p.Ile167Val, NP_620074.4:p.Ile167Val, NP_001354161.2:p.Ile167Val, NP_001354162.2:p.Ile167Val, NP_001354165.2:p.Ile167Val, NP_001354163.2:p.Ile167Val, NP_001354167.2:p.Ile167Val, NP_001354168.2:p.Ile167Val, NP_001354169.2:p.Ile167Val, NP_001354170.2:p.Ile167Val, NP_001269070.2:p.Ile167Val, NP_001354172.2:p.Ile167Val, XP_011529375.1:p.Ile221Val, XP_011529376.1:p.Ile221Val, XP_011529377.1:p.Ile221Val, XP_016885487.1:p.Ile221Val, XP_047298651.1:p.Ile170Val, XP_047298650.1:p.Ile217Val, XP_047298654.1:p.Ile217Val, XP_047298652.1:p.Ile221Val, XP_047298653.1:p.Ile217Val

          5.

          rs1485942697 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G,T [Show Flanks]
            Chromosome:
            X:66188512 (GRCh38)
            X:65408354 (GRCh37)
            Canonical SPDI:
            NC_000023.11:66188511:A:C,NC_000023.11:66188511:A:G,NC_000023.11:66188511:A:T
            Gene:
            HEPH (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            G=0.000006/1 (GnomAD_exomes)
            HGVS:
            NC_000023.11:g.66188512A>C, NC_000023.11:g.66188512A>G, NC_000023.11:g.66188512A>T, NC_000023.10:g.65408354A>C, NC_000023.10:g.65408354A>G, NC_000023.10:g.65408354A>T, NG_016265.2:g.30922A>C, NG_016265.2:g.30922A>G, NG_016265.2:g.30922A>T, NM_001130860.6:c.779A>C, NM_001130860.6:c.779A>G, NM_001130860.6:c.779A>T, NM_001130860.5:c.788A>C, NM_001130860.5:c.788A>G, NM_001130860.5:c.788A>T, NM_001130860.4:c.788A>C, NM_001130860.4:c.788A>G, NM_001130860.4:c.788A>T, NM_001130860.3:c.788A>C, NM_001130860.3:c.788A>G, NM_001130860.3:c.788A>T, NM_001130860.2:c.788A>C, NM_001130860.2:c.788A>G, NM_001130860.2:c.788A>T, NM_138737.6:c.779A>C, NM_138737.6:c.779A>G, NM_138737.6:c.779A>T, NM_138737.5:c.941A>C, NM_138737.5:c.941A>G, NM_138737.5:c.941A>T, NM_138737.4:c.941A>C, NM_138737.4:c.941A>G, NM_138737.4:c.941A>T, NM_138737.3:c.941A>C, NM_138737.3:c.941A>G, NM_138737.3:c.941A>T, NM_014799.4:c.-23A>C, NM_014799.4:c.-23A>G, NM_014799.4:c.-23A>T, NM_014799.3:c.-23A>C, NM_014799.3:c.-23A>G, NM_014799.3:c.-23A>T, NM_014799.2:c.-23A>C, NM_014799.2:c.-23A>G, NM_014799.2:c.-23A>T, NM_001367232.3:c.779A>C, NM_001367232.3:c.779A>G, NM_001367232.3:c.779A>T, NM_001367232.2:c.788A>C, NM_001367232.2:c.788A>G, NM_001367232.2:c.788A>T, NM_001367232.1:c.788A>C, NM_001367232.1:c.788A>G, NM_001367232.1:c.788A>T, NM_001367233.3:c.779A>C, NM_001367233.3:c.779A>G, NM_001367233.3:c.779A>T, NM_001367233.2:c.788A>C, NM_001367233.2:c.788A>G, NM_001367233.2:c.788A>T, NM_001367233.1:c.788A>C, NM_001367233.1:c.788A>G, NM_001367233.1:c.788A>T, NM_001367236.3:c.779A>C, NM_001367236.3:c.779A>G, NM_001367236.3:c.779A>T, NM_001367236.2:c.788A>C, NM_001367236.2:c.788A>G, NM_001367236.2:c.788A>T, NM_001367236.1:c.788A>C, NM_001367236.1:c.788A>G, NM_001367236.1:c.788A>T, NM_001367234.3:c.779A>C, NM_001367234.3:c.779A>G, NM_001367234.3:c.779A>T, NM_001367234.2:c.788A>C, NM_001367234.2:c.788A>G, NM_001367234.2:c.788A>T, NM_001367234.1:c.788A>C, NM_001367234.1:c.788A>G, NM_001367234.1:c.788A>T, NM_001367238.3:c.779A>C, NM_001367238.3:c.779A>G, NM_001367238.3:c.779A>T, NM_001367238.2:c.788A>C, NM_001367238.2:c.788A>G, NM_001367238.2:c.788A>T, NM_001367238.1:c.788A>C, NM_001367238.1:c.788A>G, NM_001367238.1:c.788A>T, NM_001367239.3:c.779A>C, NM_001367239.3:c.779A>G, NM_001367239.3:c.779A>T, NM_001367239.2:c.788A>C, NM_001367239.2:c.788A>G, NM_001367239.2:c.788A>T, NM_001367239.1:c.788A>C, NM_001367239.1:c.788A>G, NM_001367239.1:c.788A>T, NM_001367240.3:c.779A>C, NM_001367240.3:c.779A>G, NM_001367240.3:c.779A>T, NM_001367240.2:c.788A>C, NM_001367240.2:c.788A>G, NM_001367240.2:c.788A>T, NM_001367240.1:c.788A>C, NM_001367240.1:c.788A>G, NM_001367240.1:c.788A>T, NM_001367241.3:c.779A>C, NM_001367241.3:c.779A>G, NM_001367241.3:c.779A>T, NM_001367241.2:c.788A>C, NM_001367241.2:c.788A>G, NM_001367241.2:c.788A>T, NM_001367241.1:c.788A>C, NM_001367241.1:c.788A>G, NM_001367241.1:c.788A>T, NM_001282141.3:c.779A>C, NM_001282141.3:c.779A>G, NM_001282141.3:c.779A>T, NM_001282141.2:c.788A>C, NM_001282141.2:c.788A>G, NM_001282141.2:c.788A>T, NM_001282141.1:c.788A>C, NM_001282141.1:c.788A>G, NM_001282141.1:c.788A>T, NM_001367243.3:c.779A>C, NM_001367243.3:c.779A>G, NM_001367243.3:c.779A>T, NM_001367243.2:c.788A>C, NM_001367243.2:c.788A>G, NM_001367243.2:c.788A>T, NM_001367243.1:c.788A>C, NM_001367243.1:c.788A>G, NM_001367243.1:c.788A>T, NR_159802.2:n.836A>C, NR_159802.2:n.836A>G, NR_159802.2:n.836A>T, NR_159802.1:n.836A>C, NR_159802.1:n.836A>G, NR_159802.1:n.836A>T, NM_001367242.2:c.-23A>C, NM_001367242.2:c.-23A>G, NM_001367242.2:c.-23A>T, NM_001367242.1:c.-23A>C, NM_001367242.1:c.-23A>G, NM_001367242.1:c.-23A>T, NR_159801.2:n.1016A>C, NR_159801.2:n.1016A>G, NR_159801.2:n.1016A>T, NR_159801.1:n.1016A>C, NR_159801.1:n.1016A>G, NR_159801.1:n.1016A>T, NR_159800.1:n.1016A>C, NR_159800.1:n.1016A>G, NR_159800.1:n.1016A>T, XM_011531073.4:c.941A>C, XM_011531073.4:c.941A>G, XM_011531073.4:c.941A>T, XM_011531073.3:c.941A>C, XM_011531073.3:c.941A>G, XM_011531073.3:c.941A>T, XM_011531073.2:c.941A>C, XM_011531073.2:c.941A>G, XM_011531073.2:c.941A>T, XM_011531073.1:c.941A>C, XM_011531073.1:c.941A>G, XM_011531073.1:c.941A>T, XM_011531074.3:c.941A>C, XM_011531074.3:c.941A>G, XM_011531074.3:c.941A>T, XM_011531074.2:c.941A>C, XM_011531074.2:c.941A>G, XM_011531074.2:c.941A>T, XM_011531074.1:c.941A>C, XM_011531074.1:c.941A>G, XM_011531074.1:c.941A>T, XM_011531075.3:c.941A>C, XM_011531075.3:c.941A>G, XM_011531075.3:c.941A>T, XM_011531075.2:c.941A>C, XM_011531075.2:c.941A>G, XM_011531075.2:c.941A>T, XM_011531075.1:c.941A>C, XM_011531075.1:c.941A>G, XM_011531075.1:c.941A>T, XM_017029998.3:c.941A>C, XM_017029998.3:c.941A>G, XM_017029998.3:c.941A>T, XM_017029998.2:c.941A>C, XM_017029998.2:c.941A>G, XM_017029998.2:c.941A>T, XM_017029998.1:c.941A>C, XM_017029998.1:c.941A>G, XM_017029998.1:c.941A>T, XM_047442695.1:c.788A>C, XM_047442695.1:c.788A>G, XM_047442695.1:c.788A>T, XM_047442694.1:c.929A>C, XM_047442694.1:c.929A>G, XM_047442694.1:c.929A>T, XM_047442698.1:c.929A>C, XM_047442698.1:c.929A>G, XM_047442698.1:c.929A>T, XM_047442696.1:c.941A>C, XM_047442696.1:c.941A>G, XM_047442696.1:c.941A>T, XM_047442697.1:c.929A>C, XM_047442697.1:c.929A>G, XM_047442697.1:c.929A>T, NP_001124332.2:p.Glu260Ala, NP_001124332.2:p.Glu260Gly, NP_001124332.2:p.Glu260Val, NP_620074.4:p.Glu260Ala, NP_620074.4:p.Glu260Gly, NP_620074.4:p.Glu260Val, NP_001354161.2:p.Glu260Ala, NP_001354161.2:p.Glu260Gly, NP_001354161.2:p.Glu260Val, NP_001354162.2:p.Glu260Ala, NP_001354162.2:p.Glu260Gly, NP_001354162.2:p.Glu260Val, NP_001354165.2:p.Glu260Ala, NP_001354165.2:p.Glu260Gly, NP_001354165.2:p.Glu260Val, NP_001354163.2:p.Glu260Ala, NP_001354163.2:p.Glu260Gly, NP_001354163.2:p.Glu260Val, NP_001354167.2:p.Glu260Ala, NP_001354167.2:p.Glu260Gly, NP_001354167.2:p.Glu260Val, NP_001354168.2:p.Glu260Ala, NP_001354168.2:p.Glu260Gly, NP_001354168.2:p.Glu260Val, NP_001354169.2:p.Glu260Ala, NP_001354169.2:p.Glu260Gly, NP_001354169.2:p.Glu260Val, NP_001354170.2:p.Glu260Ala, NP_001354170.2:p.Glu260Gly, NP_001354170.2:p.Glu260Val, NP_001269070.2:p.Glu260Ala, NP_001269070.2:p.Glu260Gly, NP_001269070.2:p.Glu260Val, NP_001354172.2:p.Glu260Ala, NP_001354172.2:p.Glu260Gly, NP_001354172.2:p.Glu260Val, XP_011529375.1:p.Glu314Ala, XP_011529375.1:p.Glu314Gly, XP_011529375.1:p.Glu314Val, XP_011529376.1:p.Glu314Ala, XP_011529376.1:p.Glu314Gly, XP_011529376.1:p.Glu314Val, XP_011529377.1:p.Glu314Ala, XP_011529377.1:p.Glu314Gly, XP_011529377.1:p.Glu314Val, XP_016885487.1:p.Glu314Ala, XP_016885487.1:p.Glu314Gly, XP_016885487.1:p.Glu314Val, XP_047298651.1:p.Glu263Ala, XP_047298651.1:p.Glu263Gly, XP_047298651.1:p.Glu263Val, XP_047298650.1:p.Glu310Ala, XP_047298650.1:p.Glu310Gly, XP_047298650.1:p.Glu310Val, XP_047298654.1:p.Glu310Ala, XP_047298654.1:p.Glu310Gly, XP_047298654.1:p.Glu310Val, XP_047298652.1:p.Glu314Ala, XP_047298652.1:p.Glu314Gly, XP_047298652.1:p.Glu314Val, XP_047298653.1:p.Glu310Ala, XP_047298653.1:p.Glu310Gly, XP_047298653.1:p.Glu310Val

            6.

            rs1485669466 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:66197735 (GRCh38)
              X:65417577 (GRCh37)
              Canonical SPDI:
              NC_000023.11:66197734:C:T
              Gene:
              HEPH (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000005/1 (GnomAD_exomes)
              T=0.000011/3 (TOPMED)
              T=0.000029/3 (GnomAD)
              HGVS:
              NC_000023.11:g.66197735C>T, NC_000023.10:g.65417577C>T, NG_016265.2:g.40145C>T, NM_001130860.6:c.1554C>T, NM_001130860.5:c.1563C>T, NM_001130860.4:c.1563C>T, NM_001130860.3:c.1563C>T, NM_001130860.2:c.1563C>T, NM_138737.6:c.1554C>T, NM_138737.5:c.1716C>T, NM_138737.4:c.1716C>T, NM_138737.3:c.1716C>T, NM_014799.4:c.753C>T, NM_014799.3:c.753C>T, NM_014799.2:c.753C>T, NM_001367232.3:c.1554C>T, NM_001367232.2:c.1563C>T, NM_001367232.1:c.1563C>T, NM_001367233.3:c.1554C>T, NM_001367233.2:c.1563C>T, NM_001367233.1:c.1563C>T, NM_001367236.3:c.1548C>T, NM_001367236.2:c.1557C>T, NM_001367236.1:c.1557C>T, NM_001367234.3:c.1554C>T, NM_001367234.2:c.1563C>T, NM_001367234.1:c.1563C>T, NM_001367238.3:c.1554C>T, NM_001367238.2:c.1563C>T, NM_001367238.1:c.1563C>T, NM_001367239.3:c.1554C>T, NM_001367239.2:c.1563C>T, NM_001367239.1:c.1563C>T, NM_001367240.3:c.1554C>T, NM_001367240.2:c.1563C>T, NM_001367240.1:c.1563C>T, NM_001367241.3:c.1554C>T, NM_001367241.2:c.1563C>T, NM_001367241.1:c.1563C>T, NR_159802.2:n.1611C>T, NR_159802.1:n.1611C>T, NM_001367242.2:c.753C>T, NM_001367242.1:c.753C>T, NR_159801.2:n.1791C>T, NR_159801.1:n.1791C>T, NR_159800.1:n.1791C>T, XM_011531073.4:c.1716C>T, XM_011531073.3:c.1716C>T, XM_011531073.2:c.1716C>T, XM_011531073.1:c.1716C>T, XM_011531074.3:c.1716C>T, XM_011531074.2:c.1716C>T, XM_011531074.1:c.1716C>T, XM_011531075.3:c.1716C>T, XM_011531075.2:c.1716C>T, XM_011531075.1:c.1716C>T, XM_017029998.3:c.1716C>T, XM_017029998.2:c.1716C>T, XM_017029998.1:c.1716C>T, XM_047442695.1:c.1563C>T, XM_047442694.1:c.1704C>T, XM_047442698.1:c.1704C>T, XM_047442696.1:c.1716C>T, XM_047442697.1:c.1704C>T

              7.

              rs1484807584 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                X:66193536 (GRCh38)
                X:65413378 (GRCh37)
                Canonical SPDI:
                NC_000023.11:66193535:C:T
                Gene:
                HEPH (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (TOPMED)
                T=0.000019/2 (GnomAD)
                HGVS:
                NC_000023.11:g.66193536C>T, NC_000023.10:g.65413378C>T, NG_016265.2:g.35946C>T, NM_001130860.6:c.1267C>T, NM_001130860.5:c.1276C>T, NM_001130860.4:c.1276C>T, NM_001130860.3:c.1276C>T, NM_001130860.2:c.1276C>T, NM_138737.6:c.1267C>T, NM_138737.5:c.1429C>T, NM_138737.4:c.1429C>T, NM_138737.3:c.1429C>T, NM_014799.4:c.466C>T, NM_014799.3:c.466C>T, NM_014799.2:c.466C>T, NM_001367232.3:c.1267C>T, NM_001367232.2:c.1276C>T, NM_001367232.1:c.1276C>T, NM_001367233.3:c.1267C>T, NM_001367233.2:c.1276C>T, NM_001367233.1:c.1276C>T, NM_001367236.3:c.1267C>T, NM_001367236.2:c.1276C>T, NM_001367236.1:c.1276C>T, NM_001367234.3:c.1267C>T, NM_001367234.2:c.1276C>T, NM_001367234.1:c.1276C>T, NM_001367238.3:c.1267C>T, NM_001367238.2:c.1276C>T, NM_001367238.1:c.1276C>T, NM_001367239.3:c.1267C>T, NM_001367239.2:c.1276C>T, NM_001367239.1:c.1276C>T, NM_001367240.3:c.1267C>T, NM_001367240.2:c.1276C>T, NM_001367240.1:c.1276C>T, NM_001367241.3:c.1267C>T, NM_001367241.2:c.1276C>T, NM_001367241.1:c.1276C>T, NM_001282141.3:c.1267C>T, NM_001282141.2:c.1276C>T, NM_001282141.1:c.1276C>T, NM_001367243.3:c.1267C>T, NM_001367243.2:c.1276C>T, NM_001367243.1:c.1276C>T, NR_159802.2:n.1324C>T, NR_159802.1:n.1324C>T, NM_001367242.2:c.466C>T, NM_001367242.1:c.466C>T, NR_159801.2:n.1504C>T, NR_159801.1:n.1504C>T, NR_159800.1:n.1504C>T, XM_011531073.4:c.1429C>T, XM_011531073.3:c.1429C>T, XM_011531073.2:c.1429C>T, XM_011531073.1:c.1429C>T, XM_011531074.3:c.1429C>T, XM_011531074.2:c.1429C>T, XM_011531074.1:c.1429C>T, XM_011531075.3:c.1429C>T, XM_011531075.2:c.1429C>T, XM_011531075.1:c.1429C>T, XM_017029998.3:c.1429C>T, XM_017029998.2:c.1429C>T, XM_017029998.1:c.1429C>T, XM_047442695.1:c.1276C>T, XM_047442694.1:c.1417C>T, XM_047442698.1:c.1417C>T, XM_047442696.1:c.1429C>T, XM_047442697.1:c.1417C>T, NP_001124332.2:p.Arg423Ter, NP_620074.4:p.Arg423Ter, NP_055614.1:p.Arg156Ter, NP_001354161.2:p.Arg423Ter, NP_001354162.2:p.Arg423Ter, NP_001354165.2:p.Arg423Ter, NP_001354163.2:p.Arg423Ter, NP_001354167.2:p.Arg423Ter, NP_001354168.2:p.Arg423Ter, NP_001354169.2:p.Arg423Ter, NP_001354170.2:p.Arg423Ter, NP_001269070.2:p.Arg423Ter, NP_001354172.2:p.Arg423Ter, NP_001354171.1:p.Arg156Ter, XP_011529375.1:p.Arg477Ter, XP_011529376.1:p.Arg477Ter, XP_011529377.1:p.Arg477Ter, XP_016885487.1:p.Arg477Ter, XP_047298651.1:p.Arg426Ter, XP_047298650.1:p.Arg473Ter, XP_047298654.1:p.Arg473Ter, XP_047298652.1:p.Arg477Ter, XP_047298653.1:p.Arg473Ter

                8.

                rs1484004192 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:66203577 (GRCh38)
                  X:65423419 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:66203576:G:A
                  Gene:
                  HEPH (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000006/1 (GnomAD_exomes)
                  A=0.000008/2 (TOPMED)
                  A=0.00001/1 (GnomAD)
                  HGVS:
                  NC_000023.11:g.66203577G>A, NC_000023.10:g.65423419G>A, NG_016265.2:g.45987G>A, NM_001130860.6:c.2291G>A, NM_001130860.5:c.2300G>A, NM_001130860.4:c.2300G>A, NM_001130860.3:c.2300G>A, NM_001130860.2:c.2300G>A, NM_138737.6:c.2291G>A, NM_138737.5:c.2453G>A, NM_138737.4:c.2453G>A, NM_138737.3:c.2453G>A, NM_014799.4:c.1490G>A, NM_014799.3:c.1490G>A, NM_014799.2:c.1490G>A, NM_001367232.3:c.2291G>A, NM_001367232.2:c.2300G>A, NM_001367232.1:c.2300G>A, NM_001367233.3:c.2291G>A, NM_001367233.2:c.2300G>A, NM_001367233.1:c.2300G>A, NM_001367236.3:c.2285G>A, NM_001367236.2:c.2294G>A, NM_001367236.1:c.2294G>A, NM_001367234.3:c.2291G>A, NM_001367234.2:c.2300G>A, NM_001367234.1:c.2300G>A, NM_001367238.3:c.2078G>A, NM_001367238.2:c.2087G>A, NM_001367238.1:c.2087G>A, NM_001367239.3:c.2078G>A, NM_001367239.2:c.2087G>A, NM_001367239.1:c.2087G>A, NM_001367240.3:c.2291G>A, NM_001367240.2:c.2300G>A, NM_001367240.1:c.2300G>A, NM_001367241.3:c.2291G>A, NM_001367241.2:c.2300G>A, NM_001367241.1:c.2300G>A, NM_001282141.3:c.1715G>A, NM_001282141.2:c.1724G>A, NM_001282141.1:c.1724G>A, NM_001367243.3:c.1715G>A, NM_001367243.2:c.1724G>A, NM_001367243.1:c.1724G>A, NR_159802.2:n.2348G>A, NR_159802.1:n.2348G>A, NM_001367242.2:c.1490G>A, NM_001367242.1:c.1490G>A, NR_159801.2:n.2528G>A, NR_159801.1:n.2528G>A, NR_159800.1:n.2528G>A, XM_011531073.4:c.2453G>A, XM_011531073.3:c.2453G>A, XM_011531073.2:c.2453G>A, XM_011531073.1:c.2453G>A, XM_011531074.3:c.2240G>A, XM_011531074.2:c.2240G>A, XM_011531074.1:c.2240G>A, XM_011531075.3:c.2453G>A, XM_011531075.2:c.2453G>A, XM_011531075.1:c.2453G>A, XM_017029998.3:c.2453G>A, XM_017029998.2:c.2453G>A, XM_017029998.1:c.2453G>A, XM_047442695.1:c.2300G>A, XM_047442694.1:c.2441G>A, XM_047442698.1:c.2228G>A, XM_047442696.1:c.2240G>A, XM_047442697.1:c.2441G>A, NP_001124332.2:p.Ser764Asn, NP_620074.4:p.Ser764Asn, NP_055614.1:p.Ser497Asn, NP_001354161.2:p.Ser764Asn, NP_001354162.2:p.Ser764Asn, NP_001354165.2:p.Ser762Asn, NP_001354163.2:p.Ser764Asn, NP_001354167.2:p.Ser693Asn, NP_001354168.2:p.Ser693Asn, NP_001354169.2:p.Ser764Asn, NP_001354170.2:p.Ser764Asn, NP_001269070.2:p.Ser572Asn, NP_001354172.2:p.Ser572Asn, NP_001354171.1:p.Ser497Asn, XP_011529375.1:p.Ser818Asn, XP_011529376.1:p.Ser747Asn, XP_011529377.1:p.Ser818Asn, XP_016885487.1:p.Ser818Asn, XP_047298651.1:p.Ser767Asn, XP_047298650.1:p.Ser814Asn, XP_047298654.1:p.Ser743Asn, XP_047298652.1:p.Ser747Asn, XP_047298653.1:p.Ser814Asn

                  9.

                  rs1482789580 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:66195101 (GRCh38)
                    X:65414943 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:66195100:C:T
                    Gene:
                    HEPH (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000023.11:g.66195101C>T, NC_000023.10:g.65414943C>T, NG_016265.2:g.37511C>T, NM_001130860.6:c.1373C>T, NM_001130860.5:c.1382C>T, NM_001130860.4:c.1382C>T, NM_001130860.3:c.1382C>T, NM_001130860.2:c.1382C>T, NM_138737.6:c.1373C>T, NM_138737.5:c.1535C>T, NM_138737.4:c.1535C>T, NM_138737.3:c.1535C>T, NM_014799.4:c.572C>T, NM_014799.3:c.572C>T, NM_014799.2:c.572C>T, NM_001367232.3:c.1373C>T, NM_001367232.2:c.1382C>T, NM_001367232.1:c.1382C>T, NM_001367233.3:c.1373C>T, NM_001367233.2:c.1382C>T, NM_001367233.1:c.1382C>T, NM_001367234.3:c.1373C>T, NM_001367234.2:c.1382C>T, NM_001367234.1:c.1382C>T, NM_001367238.3:c.1373C>T, NM_001367238.2:c.1382C>T, NM_001367238.1:c.1382C>T, NM_001367239.3:c.1373C>T, NM_001367239.2:c.1382C>T, NM_001367239.1:c.1382C>T, NM_001367240.3:c.1373C>T, NM_001367240.2:c.1382C>T, NM_001367240.1:c.1382C>T, NM_001367241.3:c.1373C>T, NM_001367241.2:c.1382C>T, NM_001367241.1:c.1382C>T, NM_001282141.3:c.1373C>T, NM_001282141.2:c.1382C>T, NM_001282141.1:c.1382C>T, NM_001367243.3:c.1373C>T, NM_001367243.2:c.1382C>T, NM_001367243.1:c.1382C>T, NR_159802.2:n.1430C>T, NR_159802.1:n.1430C>T, NM_001367242.2:c.572C>T, NM_001367242.1:c.572C>T, NR_159801.2:n.1610C>T, NR_159801.1:n.1610C>T, NR_159800.1:n.1610C>T, XM_011531073.4:c.1535C>T, XM_011531073.3:c.1535C>T, XM_011531073.2:c.1535C>T, XM_011531073.1:c.1535C>T, XM_011531074.3:c.1535C>T, XM_011531074.2:c.1535C>T, XM_011531074.1:c.1535C>T, XM_011531075.3:c.1535C>T, XM_011531075.2:c.1535C>T, XM_011531075.1:c.1535C>T, XM_017029998.3:c.1535C>T, XM_017029998.2:c.1535C>T, XM_017029998.1:c.1535C>T, XM_047442695.1:c.1382C>T, XM_047442694.1:c.1523C>T, XM_047442698.1:c.1523C>T, XM_047442696.1:c.1535C>T, XM_047442697.1:c.1523C>T, NP_001124332.2:p.Pro458Leu, NP_620074.4:p.Pro458Leu, NP_055614.1:p.Pro191Leu, NP_001354161.2:p.Pro458Leu, NP_001354162.2:p.Pro458Leu, NP_001354163.2:p.Pro458Leu, NP_001354167.2:p.Pro458Leu, NP_001354168.2:p.Pro458Leu, NP_001354169.2:p.Pro458Leu, NP_001354170.2:p.Pro458Leu, NP_001269070.2:p.Pro458Leu, NP_001354172.2:p.Pro458Leu, NP_001354171.1:p.Pro191Leu, XP_011529375.1:p.Pro512Leu, XP_011529376.1:p.Pro512Leu, XP_011529377.1:p.Pro512Leu, XP_016885487.1:p.Pro512Leu, XP_047298651.1:p.Pro461Leu, XP_047298650.1:p.Pro508Leu, XP_047298654.1:p.Pro508Leu, XP_047298652.1:p.Pro512Leu, XP_047298653.1:p.Pro508Leu

                    10.

                    rs1481623155 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:66203429 (GRCh38)
                      X:65423271 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:66203428:G:A
                      Gene:
                      HEPH (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.00001/1 (GnomAD)
                      HGVS:
                      NC_000023.11:g.66203429G>A, NC_000023.10:g.65423271G>A, NG_016265.2:g.45839G>A, NM_001130860.6:c.2143G>A, NM_001130860.5:c.2152G>A, NM_001130860.4:c.2152G>A, NM_001130860.3:c.2152G>A, NM_001130860.2:c.2152G>A, NM_138737.6:c.2143G>A, NM_138737.5:c.2305G>A, NM_138737.4:c.2305G>A, NM_138737.3:c.2305G>A, NM_014799.4:c.1342G>A, NM_014799.3:c.1342G>A, NM_014799.2:c.1342G>A, NM_001367232.3:c.2143G>A, NM_001367232.2:c.2152G>A, NM_001367232.1:c.2152G>A, NM_001367233.3:c.2143G>A, NM_001367233.2:c.2152G>A, NM_001367233.1:c.2152G>A, NM_001367236.3:c.2137G>A, NM_001367236.2:c.2146G>A, NM_001367236.1:c.2146G>A, NM_001367234.3:c.2143G>A, NM_001367234.2:c.2152G>A, NM_001367234.1:c.2152G>A, NM_001367238.3:c.1930G>A, NM_001367238.2:c.1939G>A, NM_001367238.1:c.1939G>A, NM_001367239.3:c.1930G>A, NM_001367239.2:c.1939G>A, NM_001367239.1:c.1939G>A, NM_001367240.3:c.2143G>A, NM_001367240.2:c.2152G>A, NM_001367240.1:c.2152G>A, NM_001367241.3:c.2143G>A, NM_001367241.2:c.2152G>A, NM_001367241.1:c.2152G>A, NM_001282141.3:c.1567G>A, NM_001282141.2:c.1576G>A, NM_001282141.1:c.1576G>A, NM_001367243.3:c.1567G>A, NM_001367243.2:c.1576G>A, NM_001367243.1:c.1576G>A, NR_159802.2:n.2200G>A, NR_159802.1:n.2200G>A, NM_001367242.2:c.1342G>A, NM_001367242.1:c.1342G>A, NR_159801.2:n.2380G>A, NR_159801.1:n.2380G>A, NR_159800.1:n.2380G>A, XM_011531073.4:c.2305G>A, XM_011531073.3:c.2305G>A, XM_011531073.2:c.2305G>A, XM_011531073.1:c.2305G>A, XM_011531074.3:c.2092G>A, XM_011531074.2:c.2092G>A, XM_011531074.1:c.2092G>A, XM_011531075.3:c.2305G>A, XM_011531075.2:c.2305G>A, XM_011531075.1:c.2305G>A, XM_017029998.3:c.2305G>A, XM_017029998.2:c.2305G>A, XM_017029998.1:c.2305G>A, XM_047442695.1:c.2152G>A, XM_047442694.1:c.2293G>A, XM_047442698.1:c.2080G>A, XM_047442696.1:c.2092G>A, XM_047442697.1:c.2293G>A, NP_001124332.2:p.Val715Ile, NP_620074.4:p.Val715Ile, NP_055614.1:p.Val448Ile, NP_001354161.2:p.Val715Ile, NP_001354162.2:p.Val715Ile, NP_001354165.2:p.Val713Ile, NP_001354163.2:p.Val715Ile, NP_001354167.2:p.Val644Ile, NP_001354168.2:p.Val644Ile, NP_001354169.2:p.Val715Ile, NP_001354170.2:p.Val715Ile, NP_001269070.2:p.Val523Ile, NP_001354172.2:p.Val523Ile, NP_001354171.1:p.Val448Ile, XP_011529375.1:p.Val769Ile, XP_011529376.1:p.Val698Ile, XP_011529377.1:p.Val769Ile, XP_016885487.1:p.Val769Ile, XP_047298651.1:p.Val718Ile, XP_047298650.1:p.Val765Ile, XP_047298654.1:p.Val694Ile, XP_047298652.1:p.Val698Ile, XP_047298653.1:p.Val765Ile

                      11.

                      rs1480633544 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        X:66173731 (GRCh38)
                        X:65393573 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:66173730:C:A
                        Gene:
                        HEPH (Varview)
                        Functional Consequence:
                        stop_gained,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        NC_000023.11:g.66173731C>A, NC_000023.10:g.65393573C>A, NG_016265.2:g.16141C>A, NM_001130860.6:c.555C>A, NM_001130860.5:c.564C>A, NM_001130860.4:c.564C>A, NM_001130860.3:c.564C>A, NM_001130860.2:c.564C>A, NM_138737.6:c.555C>A, NM_138737.5:c.717C>A, NM_138737.4:c.717C>A, NM_138737.3:c.717C>A, NM_014799.4:c.-247C>A, NM_014799.3:c.-247C>A, NM_014799.2:c.-247C>A, NM_001367232.3:c.555C>A, NM_001367232.2:c.564C>A, NM_001367232.1:c.564C>A, NM_001367233.3:c.555C>A, NM_001367233.2:c.564C>A, NM_001367233.1:c.564C>A, NM_001367236.3:c.555C>A, NM_001367236.2:c.564C>A, NM_001367236.1:c.564C>A, NM_001367234.3:c.555C>A, NM_001367234.2:c.564C>A, NM_001367234.1:c.564C>A, NM_001367238.3:c.555C>A, NM_001367238.2:c.564C>A, NM_001367238.1:c.564C>A, NM_001367239.3:c.555C>A, NM_001367239.2:c.564C>A, NM_001367239.1:c.564C>A, NM_001367240.3:c.555C>A, NM_001367240.2:c.564C>A, NM_001367240.1:c.564C>A, NM_001367241.3:c.555C>A, NM_001367241.2:c.564C>A, NM_001367241.1:c.564C>A, NM_001282141.3:c.555C>A, NM_001282141.2:c.564C>A, NM_001282141.1:c.564C>A, NM_001367243.3:c.555C>A, NM_001367243.2:c.564C>A, NM_001367243.1:c.564C>A, NR_159802.2:n.612C>A, NR_159802.1:n.612C>A, NM_001367242.2:c.-247C>A, NM_001367242.1:c.-247C>A, NR_159801.2:n.792C>A, NR_159801.1:n.792C>A, NR_159800.1:n.792C>A, XM_011531073.4:c.717C>A, XM_011531073.3:c.717C>A, XM_011531073.2:c.717C>A, XM_011531073.1:c.717C>A, XM_011531074.3:c.717C>A, XM_011531074.2:c.717C>A, XM_011531074.1:c.717C>A, XM_011531075.3:c.717C>A, XM_011531075.2:c.717C>A, XM_011531075.1:c.717C>A, XM_017029998.3:c.717C>A, XM_017029998.2:c.717C>A, XM_017029998.1:c.717C>A, XM_047442695.1:c.564C>A, XM_047442694.1:c.705C>A, XM_047442698.1:c.705C>A, XM_047442696.1:c.717C>A, XM_047442697.1:c.705C>A, NP_001124332.2:p.Tyr185Ter, NP_620074.4:p.Tyr185Ter, NP_001354161.2:p.Tyr185Ter, NP_001354162.2:p.Tyr185Ter, NP_001354165.2:p.Tyr185Ter, NP_001354163.2:p.Tyr185Ter, NP_001354167.2:p.Tyr185Ter, NP_001354168.2:p.Tyr185Ter, NP_001354169.2:p.Tyr185Ter, NP_001354170.2:p.Tyr185Ter, NP_001269070.2:p.Tyr185Ter, NP_001354172.2:p.Tyr185Ter, XP_011529375.1:p.Tyr239Ter, XP_011529376.1:p.Tyr239Ter, XP_011529377.1:p.Tyr239Ter, XP_016885487.1:p.Tyr239Ter, XP_047298651.1:p.Tyr188Ter, XP_047298650.1:p.Tyr235Ter, XP_047298654.1:p.Tyr235Ter, XP_047298652.1:p.Tyr239Ter, XP_047298653.1:p.Tyr235Ter

                        12.

                        rs1480245844 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:66263664 (GRCh38)
                          X:65483506 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:66263663:G:A
                          Gene:
                          HEPH (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000005/1 (GnomAD_exomes)
                          A=0.00001/1 (GnomAD)
                          HGVS:
                          NC_000023.11:g.66263664G>A, NC_000023.10:g.65483506G>A, NG_016265.2:g.106074G>A, NM_001130860.6:c.3220G>A, NM_001130860.5:c.3229G>A, NM_001130860.4:c.3229G>A, NM_001130860.3:c.3229G>A, NM_001130860.2:c.3229G>A, NM_138737.6:c.3220G>A, NM_138737.5:c.3382G>A, NM_138737.4:c.3382G>A, NM_138737.3:c.3382G>A, NM_014799.4:c.2419G>A, NM_014799.3:c.2419G>A, NM_014799.2:c.2419G>A, NM_001367232.3:c.3220G>A, NM_001367232.2:c.3229G>A, NM_001367232.1:c.3229G>A, NM_001367233.3:c.3220G>A, NM_001367233.2:c.3229G>A, NM_001367233.1:c.3229G>A, NM_001367236.3:c.3214G>A, NM_001367236.2:c.3223G>A, NM_001367236.1:c.3223G>A, NM_001367234.3:c.3220G>A, NM_001367234.2:c.3229G>A, NM_001367234.1:c.3229G>A, NM_001367238.3:c.3007G>A, NM_001367238.2:c.3016G>A, NM_001367238.1:c.3016G>A, NM_001367239.3:c.3007G>A, NM_001367239.2:c.3016G>A, NM_001367239.1:c.3016G>A, NM_001367240.3:c.2887G>A, NM_001367240.2:c.2896G>A, NM_001367240.1:c.2896G>A, NM_001367241.3:c.2887G>A, NM_001367241.2:c.2896G>A, NM_001367241.1:c.2896G>A, NM_001282141.3:c.2644G>A, NM_001282141.2:c.2653G>A, NM_001282141.1:c.2653G>A, NM_001367243.3:c.2311G>A, NM_001367243.2:c.2320G>A, NM_001367243.1:c.2320G>A, NR_159802.2:n.4146G>A, NR_159802.1:n.4146G>A, NM_001367242.2:c.2419G>A, NM_001367242.1:c.2419G>A, NR_159801.2:n.3567G>A, NR_159801.1:n.3567G>A, NR_159800.1:n.3232G>A, XM_011531073.4:c.3382G>A, XM_011531073.3:c.3382G>A, XM_011531073.2:c.3382G>A, XM_011531073.1:c.3382G>A, XM_011531074.3:c.3169G>A, XM_011531074.2:c.3169G>A, XM_011531074.1:c.3169G>A, XM_011531075.3:c.3049G>A, XM_011531075.2:c.3049G>A, XM_011531075.1:c.3049G>A, XM_017029998.3:c.3049G>A, XM_017029998.2:c.3049G>A, XM_017029998.1:c.3049G>A, XM_047442695.1:c.3229G>A, XM_047442694.1:c.3370G>A, XM_047442698.1:c.2824G>A, XM_047442696.1:c.3169G>A, XM_047442697.1:c.3037G>A, NP_001124332.2:p.Val1074Ile, NP_620074.4:p.Val1074Ile, NP_055614.1:p.Val807Ile, NP_001354161.2:p.Val1074Ile, NP_001354162.2:p.Val1074Ile, NP_001354165.2:p.Val1072Ile, NP_001354163.2:p.Val1074Ile, NP_001354167.2:p.Val1003Ile, NP_001354168.2:p.Val1003Ile, NP_001354169.2:p.Val963Ile, NP_001354170.2:p.Val963Ile, NP_001269070.2:p.Val882Ile, NP_001354172.2:p.Val771Ile, NP_001354171.1:p.Val807Ile, XP_011529375.1:p.Val1128Ile, XP_011529376.1:p.Val1057Ile, XP_011529377.1:p.Val1017Ile, XP_016885487.1:p.Val1017Ile, XP_047298651.1:p.Val1077Ile, XP_047298650.1:p.Val1124Ile, XP_047298654.1:p.Val942Ile, XP_047298652.1:p.Val1057Ile, XP_047298653.1:p.Val1013Ile

                          13.

                          rs1479316842 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            X:66200643 (GRCh38)
                            X:65420485 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:66200642:T:G
                            Gene:
                            HEPH (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000023.11:g.66200643T>G, NC_000023.10:g.65420485T>G, NG_016265.2:g.43053T>G, NM_001130860.6:c.1968T>G, NM_001130860.5:c.1977T>G, NM_001130860.4:c.1977T>G, NM_001130860.3:c.1977T>G, NM_001130860.2:c.1977T>G, NM_138737.6:c.1968T>G, NM_138737.5:c.2130T>G, NM_138737.4:c.2130T>G, NM_138737.3:c.2130T>G, NM_014799.4:c.1167T>G, NM_014799.3:c.1167T>G, NM_014799.2:c.1167T>G, NM_001367232.3:c.1968T>G, NM_001367232.2:c.1977T>G, NM_001367232.1:c.1977T>G, NM_001367233.3:c.1968T>G, NM_001367233.2:c.1977T>G, NM_001367233.1:c.1977T>G, NM_001367236.3:c.1962T>G, NM_001367236.2:c.1971T>G, NM_001367236.1:c.1971T>G, NM_001367234.3:c.1968T>G, NM_001367234.2:c.1977T>G, NM_001367234.1:c.1977T>G, NM_001367240.3:c.1968T>G, NM_001367240.2:c.1977T>G, NM_001367240.1:c.1977T>G, NM_001367241.3:c.1968T>G, NM_001367241.2:c.1977T>G, NM_001367241.1:c.1977T>G, NR_159802.2:n.2025T>G, NR_159802.1:n.2025T>G, NM_001367242.2:c.1167T>G, NM_001367242.1:c.1167T>G, NR_159801.2:n.2205T>G, NR_159801.1:n.2205T>G, NR_159800.1:n.2205T>G, XM_011531073.4:c.2130T>G, XM_011531073.3:c.2130T>G, XM_011531073.2:c.2130T>G, XM_011531073.1:c.2130T>G, XM_011531075.3:c.2130T>G, XM_011531075.2:c.2130T>G, XM_011531075.1:c.2130T>G, XM_017029998.3:c.2130T>G, XM_017029998.2:c.2130T>G, XM_017029998.1:c.2130T>G, XM_047442695.1:c.1977T>G, XM_047442694.1:c.2118T>G, XM_047442697.1:c.2118T>G, NP_001124332.2:p.His656Gln, NP_620074.4:p.His656Gln, NP_055614.1:p.His389Gln, NP_001354161.2:p.His656Gln, NP_001354162.2:p.His656Gln, NP_001354165.2:p.His654Gln, NP_001354163.2:p.His656Gln, NP_001354169.2:p.His656Gln, NP_001354170.2:p.His656Gln, NP_001354171.1:p.His389Gln, XP_011529375.1:p.His710Gln, XP_011529377.1:p.His710Gln, XP_016885487.1:p.His710Gln, XP_047298651.1:p.His659Gln, XP_047298650.1:p.His706Gln, XP_047298653.1:p.His706Gln

                            14.

                            rs1478397148 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              X:66197750 (GRCh38)
                              X:65417592 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:66197749:T:A
                              Gene:
                              HEPH (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.00001/1 (GnomAD)
                              HGVS:
                              NC_000023.11:g.66197750T>A, NC_000023.10:g.65417592T>A, NG_016265.2:g.40160T>A, NM_001130860.6:c.1569T>A, NM_001130860.5:c.1578T>A, NM_001130860.4:c.1578T>A, NM_001130860.3:c.1578T>A, NM_001130860.2:c.1578T>A, NM_138737.6:c.1569T>A, NM_138737.5:c.1731T>A, NM_138737.4:c.1731T>A, NM_138737.3:c.1731T>A, NM_014799.4:c.768T>A, NM_014799.3:c.768T>A, NM_014799.2:c.768T>A, NM_001367232.3:c.1569T>A, NM_001367232.2:c.1578T>A, NM_001367232.1:c.1578T>A, NM_001367233.3:c.1569T>A, NM_001367233.2:c.1578T>A, NM_001367233.1:c.1578T>A, NM_001367236.3:c.1563T>A, NM_001367236.2:c.1572T>A, NM_001367236.1:c.1572T>A, NM_001367234.3:c.1569T>A, NM_001367234.2:c.1578T>A, NM_001367234.1:c.1578T>A, NM_001367238.3:c.1569T>A, NM_001367238.2:c.1578T>A, NM_001367238.1:c.1578T>A, NM_001367239.3:c.1569T>A, NM_001367239.2:c.1578T>A, NM_001367239.1:c.1578T>A, NM_001367240.3:c.1569T>A, NM_001367240.2:c.1578T>A, NM_001367240.1:c.1578T>A, NM_001367241.3:c.1569T>A, NM_001367241.2:c.1578T>A, NM_001367241.1:c.1578T>A, NR_159802.2:n.1626T>A, NR_159802.1:n.1626T>A, NM_001367242.2:c.768T>A, NM_001367242.1:c.768T>A, NR_159801.2:n.1806T>A, NR_159801.1:n.1806T>A, NR_159800.1:n.1806T>A, XM_011531073.4:c.1731T>A, XM_011531073.3:c.1731T>A, XM_011531073.2:c.1731T>A, XM_011531073.1:c.1731T>A, XM_011531074.3:c.1731T>A, XM_011531074.2:c.1731T>A, XM_011531074.1:c.1731T>A, XM_011531075.3:c.1731T>A, XM_011531075.2:c.1731T>A, XM_011531075.1:c.1731T>A, XM_017029998.3:c.1731T>A, XM_017029998.2:c.1731T>A, XM_017029998.1:c.1731T>A, XM_047442695.1:c.1578T>A, XM_047442694.1:c.1719T>A, XM_047442698.1:c.1719T>A, XM_047442696.1:c.1731T>A, XM_047442697.1:c.1719T>A

                              15.

                              rs1476201838 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                X:66170603 (GRCh38)
                                X:65390445 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:66170602:G:T
                                Gene:
                                HEPH (Varview)
                                Functional Consequence:
                                intron_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000023.11:g.66170603G>T, NC_000023.10:g.65390445G>T, NG_016265.2:g.13013G>T, NM_001130860.6:c.33G>T, NM_001130860.5:c.42G>T, NM_001130860.4:c.42G>T, NM_001130860.3:c.42G>T, NM_001130860.2:c.42G>T, NM_138737.6:c.33G>T, NM_138737.5:c.195G>T, NM_138737.4:c.195G>T, NM_138737.3:c.195G>T, NM_001367232.3:c.33G>T, NM_001367232.2:c.42G>T, NM_001367232.1:c.42G>T, NM_001367233.3:c.33G>T, NM_001367233.2:c.42G>T, NM_001367233.1:c.42G>T, NM_001367236.3:c.33G>T, NM_001367236.2:c.42G>T, NM_001367236.1:c.42G>T, NM_001367234.3:c.33G>T, NM_001367234.2:c.42G>T, NM_001367234.1:c.42G>T, NM_001367238.3:c.33G>T, NM_001367238.2:c.42G>T, NM_001367238.1:c.42G>T, NM_001367239.3:c.33G>T, NM_001367239.2:c.42G>T, NM_001367239.1:c.42G>T, NM_001367240.3:c.33G>T, NM_001367240.2:c.42G>T, NM_001367240.1:c.42G>T, NM_001367241.3:c.33G>T, NM_001367241.2:c.42G>T, NM_001367241.1:c.42G>T, NM_001282141.3:c.33G>T, NM_001282141.2:c.42G>T, NM_001282141.1:c.42G>T, NM_001367243.3:c.33G>T, NM_001367243.2:c.42G>T, NM_001367243.1:c.42G>T, NM_001367242.2:c.-987G>T, NM_001367242.1:c.-987G>T, NR_159801.2:n.270G>T, NR_159801.1:n.270G>T, NR_159800.1:n.270G>T, XM_011531073.4:c.195G>T, XM_011531073.3:c.195G>T, XM_011531073.2:c.195G>T, XM_011531073.1:c.195G>T, XM_011531074.3:c.195G>T, XM_011531074.2:c.195G>T, XM_011531074.1:c.195G>T, XM_011531075.3:c.195G>T, XM_011531075.2:c.195G>T, XM_011531075.1:c.195G>T, XM_017029998.3:c.195G>T, XM_017029998.2:c.195G>T, XM_017029998.1:c.195G>T, XM_047442695.1:c.42G>T, XM_047442694.1:c.183G>T, XM_047442698.1:c.183G>T, XM_047442696.1:c.195G>T, XM_047442697.1:c.183G>T

                                16.

                                rs1475531348 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  X:66188419 (GRCh38)
                                  X:65408261 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:66188418:T:A
                                  Gene:
                                  HEPH (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000023.11:g.66188419T>A, NC_000023.10:g.65408261T>A, NG_016265.2:g.30829T>A, NM_001130860.6:c.686T>A, NM_001130860.5:c.695T>A, NM_001130860.4:c.695T>A, NM_001130860.3:c.695T>A, NM_001130860.2:c.695T>A, NM_138737.6:c.686T>A, NM_138737.5:c.848T>A, NM_138737.4:c.848T>A, NM_138737.3:c.848T>A, NM_014799.4:c.-116T>A, NM_014799.3:c.-116T>A, NM_014799.2:c.-116T>A, NM_001367232.3:c.686T>A, NM_001367232.2:c.695T>A, NM_001367232.1:c.695T>A, NM_001367233.3:c.686T>A, NM_001367233.2:c.695T>A, NM_001367233.1:c.695T>A, NM_001367236.3:c.686T>A, NM_001367236.2:c.695T>A, NM_001367236.1:c.695T>A, NM_001367234.3:c.686T>A, NM_001367234.2:c.695T>A, NM_001367234.1:c.695T>A, NM_001367238.3:c.686T>A, NM_001367238.2:c.695T>A, NM_001367238.1:c.695T>A, NM_001367239.3:c.686T>A, NM_001367239.2:c.695T>A, NM_001367239.1:c.695T>A, NM_001367240.3:c.686T>A, NM_001367240.2:c.695T>A, NM_001367240.1:c.695T>A, NM_001367241.3:c.686T>A, NM_001367241.2:c.695T>A, NM_001367241.1:c.695T>A, NM_001282141.3:c.686T>A, NM_001282141.2:c.695T>A, NM_001282141.1:c.695T>A, NM_001367243.3:c.686T>A, NM_001367243.2:c.695T>A, NM_001367243.1:c.695T>A, NR_159802.2:n.743T>A, NR_159802.1:n.743T>A, NM_001367242.2:c.-116T>A, NM_001367242.1:c.-116T>A, NR_159801.2:n.923T>A, NR_159801.1:n.923T>A, NR_159800.1:n.923T>A, XM_011531073.4:c.848T>A, XM_011531073.3:c.848T>A, XM_011531073.2:c.848T>A, XM_011531073.1:c.848T>A, XM_011531074.3:c.848T>A, XM_011531074.2:c.848T>A, XM_011531074.1:c.848T>A, XM_011531075.3:c.848T>A, XM_011531075.2:c.848T>A, XM_011531075.1:c.848T>A, XM_017029998.3:c.848T>A, XM_017029998.2:c.848T>A, XM_017029998.1:c.848T>A, XM_047442695.1:c.695T>A, XM_047442694.1:c.836T>A, XM_047442698.1:c.836T>A, XM_047442696.1:c.848T>A, XM_047442697.1:c.836T>A, NP_001124332.2:p.Leu229His, NP_620074.4:p.Leu229His, NP_001354161.2:p.Leu229His, NP_001354162.2:p.Leu229His, NP_001354165.2:p.Leu229His, NP_001354163.2:p.Leu229His, NP_001354167.2:p.Leu229His, NP_001354168.2:p.Leu229His, NP_001354169.2:p.Leu229His, NP_001354170.2:p.Leu229His, NP_001269070.2:p.Leu229His, NP_001354172.2:p.Leu229His, XP_011529375.1:p.Leu283His, XP_011529376.1:p.Leu283His, XP_011529377.1:p.Leu283His, XP_016885487.1:p.Leu283His, XP_047298651.1:p.Leu232His, XP_047298650.1:p.Leu279His, XP_047298654.1:p.Leu279His, XP_047298652.1:p.Leu283His, XP_047298653.1:p.Leu279His

                                  17.

                                  rs1475207491 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    X:66189886 (GRCh38)
                                    X:65409728 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:66189885:C:T
                                    Gene:
                                    HEPH (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000006/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000023.11:g.66189886C>T, NC_000023.10:g.65409728C>T, NG_016265.2:g.32296C>T, NM_001130860.6:c.1011C>T, NM_001130860.5:c.1020C>T, NM_001130860.4:c.1020C>T, NM_001130860.3:c.1020C>T, NM_001130860.2:c.1020C>T, NM_138737.6:c.1011C>T, NM_138737.5:c.1173C>T, NM_138737.4:c.1173C>T, NM_138737.3:c.1173C>T, NM_014799.4:c.210C>T, NM_014799.3:c.210C>T, NM_014799.2:c.210C>T, NM_001367232.3:c.1011C>T, NM_001367232.2:c.1020C>T, NM_001367232.1:c.1020C>T, NM_001367233.3:c.1011C>T, NM_001367233.2:c.1020C>T, NM_001367233.1:c.1020C>T, NM_001367236.3:c.1011C>T, NM_001367236.2:c.1020C>T, NM_001367236.1:c.1020C>T, NM_001367234.3:c.1011C>T, NM_001367234.2:c.1020C>T, NM_001367234.1:c.1020C>T, NM_001367238.3:c.1011C>T, NM_001367238.2:c.1020C>T, NM_001367238.1:c.1020C>T, NM_001367239.3:c.1011C>T, NM_001367239.2:c.1020C>T, NM_001367239.1:c.1020C>T, NM_001367240.3:c.1011C>T, NM_001367240.2:c.1020C>T, NM_001367240.1:c.1020C>T, NM_001367241.3:c.1011C>T, NM_001367241.2:c.1020C>T, NM_001367241.1:c.1020C>T, NM_001282141.3:c.1011C>T, NM_001282141.2:c.1020C>T, NM_001282141.1:c.1020C>T, NM_001367243.3:c.1011C>T, NM_001367243.2:c.1020C>T, NM_001367243.1:c.1020C>T, NR_159802.2:n.1068C>T, NR_159802.1:n.1068C>T, NM_001367242.2:c.210C>T, NM_001367242.1:c.210C>T, NR_159801.2:n.1248C>T, NR_159801.1:n.1248C>T, NR_159800.1:n.1248C>T, XM_011531073.4:c.1173C>T, XM_011531073.3:c.1173C>T, XM_011531073.2:c.1173C>T, XM_011531073.1:c.1173C>T, XM_011531074.3:c.1173C>T, XM_011531074.2:c.1173C>T, XM_011531074.1:c.1173C>T, XM_011531075.3:c.1173C>T, XM_011531075.2:c.1173C>T, XM_011531075.1:c.1173C>T, XM_017029998.3:c.1173C>T, XM_017029998.2:c.1173C>T, XM_017029998.1:c.1173C>T, XM_047442695.1:c.1020C>T, XM_047442694.1:c.1161C>T, XM_047442698.1:c.1161C>T, XM_047442696.1:c.1173C>T, XM_047442697.1:c.1161C>T

                                    18.

                                    rs1474958520 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      X:66260114 (GRCh38)
                                      X:65479956 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:66260113:C:G
                                      Gene:
                                      HEPH (Varview)
                                      Functional Consequence:
                                      stop_gained,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000023.11:g.66260114C>G, NC_000023.10:g.65479956C>G, NG_016265.2:g.102524C>G, NM_001130860.6:c.3051C>G, NM_001130860.5:c.3060C>G, NM_001130860.4:c.3060C>G, NM_001130860.3:c.3060C>G, NM_001130860.2:c.3060C>G, NM_138737.6:c.3051C>G, NM_138737.5:c.3213C>G, NM_138737.4:c.3213C>G, NM_138737.3:c.3213C>G, NM_014799.4:c.2250C>G, NM_014799.3:c.2250C>G, NM_014799.2:c.2250C>G, NM_001367232.3:c.3051C>G, NM_001367232.2:c.3060C>G, NM_001367232.1:c.3060C>G, NM_001367233.3:c.3051C>G, NM_001367233.2:c.3060C>G, NM_001367233.1:c.3060C>G, NM_001367236.3:c.3045C>G, NM_001367236.2:c.3054C>G, NM_001367236.1:c.3054C>G, NM_001367234.3:c.3051C>G, NM_001367234.2:c.3060C>G, NM_001367234.1:c.3060C>G, NM_001367238.3:c.2838C>G, NM_001367238.2:c.2847C>G, NM_001367238.1:c.2847C>G, NM_001367239.3:c.2838C>G, NM_001367239.2:c.2847C>G, NM_001367239.1:c.2847C>G, NM_001367240.3:c.2718C>G, NM_001367240.2:c.2727C>G, NM_001367240.1:c.2727C>G, NM_001367241.3:c.2718C>G, NM_001367241.2:c.2727C>G, NM_001367241.1:c.2727C>G, NM_001282141.3:c.2475C>G, NM_001282141.2:c.2484C>G, NM_001282141.1:c.2484C>G, NM_001367243.3:c.2142C>G, NM_001367243.2:c.2151C>G, NM_001367243.1:c.2151C>G, NR_159802.2:n.3977C>G, NR_159802.1:n.3977C>G, NM_001367242.2:c.2250C>G, NM_001367242.1:c.2250C>G, NR_159801.2:n.3398C>G, NR_159801.1:n.3398C>G, NR_159800.1:n.3063C>G, XM_011531073.4:c.3213C>G, XM_011531073.3:c.3213C>G, XM_011531073.2:c.3213C>G, XM_011531073.1:c.3213C>G, XM_011531074.3:c.3000C>G, XM_011531074.2:c.3000C>G, XM_011531074.1:c.3000C>G, XM_011531075.3:c.2880C>G, XM_011531075.2:c.2880C>G, XM_011531075.1:c.2880C>G, XM_017029998.3:c.2880C>G, XM_017029998.2:c.2880C>G, XM_017029998.1:c.2880C>G, XM_047442695.1:c.3060C>G, XM_047442694.1:c.3201C>G, XM_047442698.1:c.2655C>G, XM_047442696.1:c.3000C>G, XM_047442697.1:c.2868C>G, NP_001124332.2:p.Tyr1017Ter, NP_620074.4:p.Tyr1017Ter, NP_055614.1:p.Tyr750Ter, NP_001354161.2:p.Tyr1017Ter, NP_001354162.2:p.Tyr1017Ter, NP_001354165.2:p.Tyr1015Ter, NP_001354163.2:p.Tyr1017Ter, NP_001354167.2:p.Tyr946Ter, NP_001354168.2:p.Tyr946Ter, NP_001354169.2:p.Tyr906Ter, NP_001354170.2:p.Tyr906Ter, NP_001269070.2:p.Tyr825Ter, NP_001354172.2:p.Tyr714Ter, NP_001354171.1:p.Tyr750Ter, XP_011529375.1:p.Tyr1071Ter, XP_011529376.1:p.Tyr1000Ter, XP_011529377.1:p.Tyr960Ter, XP_016885487.1:p.Tyr960Ter, XP_047298651.1:p.Tyr1020Ter, XP_047298650.1:p.Tyr1067Ter, XP_047298654.1:p.Tyr885Ter, XP_047298652.1:p.Tyr1000Ter, XP_047298653.1:p.Tyr956Ter

                                      19.

                                      rs1473024099 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:66170606 (GRCh38)
                                        X:65390448 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:66170605:C:T
                                        Gene:
                                        HEPH (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000023.11:g.66170606C>T, NC_000023.10:g.65390448C>T, NG_016265.2:g.13016C>T, NM_001130860.6:c.36C>T, NM_001130860.5:c.45C>T, NM_001130860.4:c.45C>T, NM_001130860.3:c.45C>T, NM_001130860.2:c.45C>T, NM_138737.6:c.36C>T, NM_138737.5:c.198C>T, NM_138737.4:c.198C>T, NM_138737.3:c.198C>T, NM_001367232.3:c.36C>T, NM_001367232.2:c.45C>T, NM_001367232.1:c.45C>T, NM_001367233.3:c.36C>T, NM_001367233.2:c.45C>T, NM_001367233.1:c.45C>T, NM_001367236.3:c.36C>T, NM_001367236.2:c.45C>T, NM_001367236.1:c.45C>T, NM_001367234.3:c.36C>T, NM_001367234.2:c.45C>T, NM_001367234.1:c.45C>T, NM_001367238.3:c.36C>T, NM_001367238.2:c.45C>T, NM_001367238.1:c.45C>T, NM_001367239.3:c.36C>T, NM_001367239.2:c.45C>T, NM_001367239.1:c.45C>T, NM_001367240.3:c.36C>T, NM_001367240.2:c.45C>T, NM_001367240.1:c.45C>T, NM_001367241.3:c.36C>T, NM_001367241.2:c.45C>T, NM_001367241.1:c.45C>T, NM_001282141.3:c.36C>T, NM_001282141.2:c.45C>T, NM_001282141.1:c.45C>T, NM_001367243.3:c.36C>T, NM_001367243.2:c.45C>T, NM_001367243.1:c.45C>T, NM_001367242.2:c.-984C>T, NM_001367242.1:c.-984C>T, NR_159801.2:n.273C>T, NR_159801.1:n.273C>T, NR_159800.1:n.273C>T, XM_011531073.4:c.198C>T, XM_011531073.3:c.198C>T, XM_011531073.2:c.198C>T, XM_011531073.1:c.198C>T, XM_011531074.3:c.198C>T, XM_011531074.2:c.198C>T, XM_011531074.1:c.198C>T, XM_011531075.3:c.198C>T, XM_011531075.2:c.198C>T, XM_011531075.1:c.198C>T, XM_017029998.3:c.198C>T, XM_017029998.2:c.198C>T, XM_017029998.1:c.198C>T, XM_047442695.1:c.45C>T, XM_047442694.1:c.186C>T, XM_047442698.1:c.186C>T, XM_047442696.1:c.198C>T, XM_047442697.1:c.186C>T

                                        20.

                                        rs1469973096 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          X:66189831 (GRCh38)
                                          X:65409673 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:66189830:A:G
                                          Gene:
                                          HEPH (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.66189831A>G, NC_000023.10:g.65409673A>G, NG_016265.2:g.32241A>G, NM_001130860.6:c.956A>G, NM_001130860.5:c.965A>G, NM_001130860.4:c.965A>G, NM_001130860.3:c.965A>G, NM_001130860.2:c.965A>G, NM_138737.6:c.956A>G, NM_138737.5:c.1118A>G, NM_138737.4:c.1118A>G, NM_138737.3:c.1118A>G, NM_014799.4:c.155A>G, NM_014799.3:c.155A>G, NM_014799.2:c.155A>G, NM_001367232.3:c.956A>G, NM_001367232.2:c.965A>G, NM_001367232.1:c.965A>G, NM_001367233.3:c.956A>G, NM_001367233.2:c.965A>G, NM_001367233.1:c.965A>G, NM_001367236.3:c.956A>G, NM_001367236.2:c.965A>G, NM_001367236.1:c.965A>G, NM_001367234.3:c.956A>G, NM_001367234.2:c.965A>G, NM_001367234.1:c.965A>G, NM_001367238.3:c.956A>G, NM_001367238.2:c.965A>G, NM_001367238.1:c.965A>G, NM_001367239.3:c.956A>G, NM_001367239.2:c.965A>G, NM_001367239.1:c.965A>G, NM_001367240.3:c.956A>G, NM_001367240.2:c.965A>G, NM_001367240.1:c.965A>G, NM_001367241.3:c.956A>G, NM_001367241.2:c.965A>G, NM_001367241.1:c.965A>G, NM_001282141.3:c.956A>G, NM_001282141.2:c.965A>G, NM_001282141.1:c.965A>G, NM_001367243.3:c.956A>G, NM_001367243.2:c.965A>G, NM_001367243.1:c.965A>G, NR_159802.2:n.1013A>G, NR_159802.1:n.1013A>G, NM_001367242.2:c.155A>G, NM_001367242.1:c.155A>G, NR_159801.2:n.1193A>G, NR_159801.1:n.1193A>G, NR_159800.1:n.1193A>G, XM_011531073.4:c.1118A>G, XM_011531073.3:c.1118A>G, XM_011531073.2:c.1118A>G, XM_011531073.1:c.1118A>G, XM_011531074.3:c.1118A>G, XM_011531074.2:c.1118A>G, XM_011531074.1:c.1118A>G, XM_011531075.3:c.1118A>G, XM_011531075.2:c.1118A>G, XM_011531075.1:c.1118A>G, XM_017029998.3:c.1118A>G, XM_017029998.2:c.1118A>G, XM_017029998.1:c.1118A>G, XM_047442695.1:c.965A>G, XM_047442694.1:c.1106A>G, XM_047442698.1:c.1106A>G, XM_047442696.1:c.1118A>G, XM_047442697.1:c.1106A>G, NP_001124332.2:p.His319Arg, NP_620074.4:p.His319Arg, NP_055614.1:p.His52Arg, NP_001354161.2:p.His319Arg, NP_001354162.2:p.His319Arg, NP_001354165.2:p.His319Arg, NP_001354163.2:p.His319Arg, NP_001354167.2:p.His319Arg, NP_001354168.2:p.His319Arg, NP_001354169.2:p.His319Arg, NP_001354170.2:p.His319Arg, NP_001269070.2:p.His319Arg, NP_001354172.2:p.His319Arg, NP_001354171.1:p.His52Arg, XP_011529375.1:p.His373Arg, XP_011529376.1:p.His373Arg, XP_011529377.1:p.His373Arg, XP_016885487.1:p.His373Arg, XP_047298651.1:p.His322Arg, XP_047298650.1:p.His369Arg, XP_047298654.1:p.His369Arg, XP_047298652.1:p.His373Arg, XP_047298653.1:p.His369Arg

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