U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 435

1.

rs1490781449 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:58408981 (GRCh38)
    3:58394708 (GRCh37)
    Canonical SPDI:
    NC_000003.12:58408980:C:T
    Gene:
    PXK (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000003.12:g.58408981C>T, NC_000003.11:g.58394708C>T, NM_017771.5:c.1288C>T, NM_017771.4:c.1288C>T, NM_017771.3:c.1288C>T, NM_001349528.2:c.1039C>T, NM_001349528.1:c.1039C>T, NM_001349513.2:c.1039C>T, NM_001349513.1:c.1039C>T, NM_001349529.2:c.1039C>T, NM_001349529.1:c.1039C>T, NM_001349531.2:c.1039C>T, NM_001349531.1:c.1039C>T, NM_001349530.2:c.1039C>T, NM_001349530.1:c.1039C>T, NM_001349489.2:c.1039C>T, NM_001349489.1:c.1039C>T, NM_001349521.2:c.1039C>T, NM_001349521.1:c.1039C>T, NM_001289099.2:c.1039C>T, NM_001289099.1:c.1039C>T, NM_001349488.2:c.1288C>T, NM_001349488.1:c.1288C>T, NM_001349506.2:c.1288C>T, NM_001349506.1:c.1288C>T, NM_001349503.2:c.1288C>T, NM_001349503.1:c.1288C>T, NM_001349508.2:c.1288C>T, NM_001349508.1:c.1288C>T, NR_146194.2:n.1385C>T, NR_146194.1:n.1387C>T, NM_001349492.2:c.1288C>T, NM_001349492.1:c.1288C>T, NM_001289098.2:c.1288C>T, NM_001289098.1:c.1288C>T, NM_001349493.2:c.1288C>T, NM_001349493.1:c.1288C>T, NM_001349507.2:c.1288C>T, NM_001349507.1:c.1288C>T, NM_001349504.2:c.1288C>T, NM_001349504.1:c.1288C>T, NM_001349509.2:c.1288C>T, NM_001349509.1:c.1288C>T, NM_001349510.2:c.1240C>T, NM_001349510.1:c.1240C>T, NM_001349511.2:c.1240C>T, NM_001349511.1:c.1240C>T, NM_001349518.2:c.1237C>T, NM_001349518.1:c.1237C>T, NM_001349520.2:c.1288C>T, NM_001349520.1:c.1288C>T, NM_001349514.2:c.1237C>T, NM_001349514.1:c.1237C>T, NM_001349512.2:c.1240C>T, NM_001349512.1:c.1240C>T, NM_001289095.2:c.1237C>T, NM_001289095.1:c.1237C>T, NM_001349517.2:c.1237C>T, NM_001349517.1:c.1237C>T, NM_001349516.2:c.1240C>T, NM_001349516.1:c.1240C>T, NM_001349515.2:c.1237C>T, NM_001349515.1:c.1237C>T, NM_001349519.2:c.1288C>T, NM_001349519.1:c.1288C>T, NM_001349490.2:c.1189C>T, NM_001349490.1:c.1189C>T, NM_001349527.2:c.1288C>T, NM_001349527.1:c.1288C>T, NM_001349524.2:c.1189C>T, NM_001349524.1:c.1189C>T, NM_001349494.2:c.1240C>T, NM_001349494.1:c.1240C>T, NM_001349496.2:c.1237C>T, NM_001349496.1:c.1237C>T, NM_001349495.2:c.1240C>T, NM_001349495.1:c.1240C>T, NM_001349497.2:c.1237C>T, NM_001349497.1:c.1237C>T, NM_001349499.2:c.1288C>T, NM_001349499.1:c.1288C>T, NM_001289100.2:c.1189C>T, NM_001289100.1:c.1189C>T, NM_001349522.2:c.1189C>T, NM_001349522.1:c.1189C>T, NM_001289096.2:c.1189C>T, NM_001289096.1:c.1189C>T, NM_001349500.2:c.1189C>T, NM_001349500.1:c.1189C>T, NM_001349501.2:c.1240C>T, NM_001349501.1:c.1240C>T, NM_001349502.2:c.1237C>T, NM_001349502.1:c.1237C>T, NM_001349491.2:c.877C>T, NM_001349491.1:c.877C>T, NR_146193.2:n.1147C>T, NR_146193.1:n.1149C>T, NM_001349533.2:c.877C>T, NM_001349533.1:c.877C>T, NM_001349538.2:c.877C>T, NM_001349538.1:c.877C>T, NM_001349536.2:c.877C>T, NM_001349536.1:c.877C>T, NM_001349540.2:c.877C>T, NM_001349540.1:c.877C>T, NM_001349525.2:c.877C>T, NM_001349525.1:c.877C>T, NM_001349534.2:c.877C>T, NM_001349534.1:c.877C>T, NM_001349537.2:c.877C>T, NM_001349537.1:c.877C>T, NM_001349535.2:c.877C>T, NM_001349535.1:c.877C>T, NM_001349539.2:c.877C>T, NM_001349539.1:c.877C>T, NM_001289101.2:c.877C>T, NM_001289101.1:c.877C>T, NM_001349526.2:c.877C>T, NM_001349526.1:c.877C>T, NM_001349532.2:c.877C>T, NM_001349532.1:c.877C>T, NM_001349498.1:c.1228C>T

    2.

    rs1488457295 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:58410149 (GRCh38)
      3:58395876 (GRCh37)
      Canonical SPDI:
      NC_000003.12:58410148:C:T
      Gene:
      PXK (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.58410149C>T, NC_000003.11:g.58395876C>T, NM_017771.5:c.1455C>T, NM_017771.4:c.1455C>T, NM_017771.3:c.1455C>T, NM_001349528.2:c.1206C>T, NM_001349528.1:c.1206C>T, NM_001349513.2:c.1206C>T, NM_001349513.1:c.1206C>T, NM_001349529.2:c.1206C>T, NM_001349529.1:c.1206C>T, NM_001349531.2:c.1206C>T, NM_001349531.1:c.1206C>T, NM_001349530.2:c.1206C>T, NM_001349530.1:c.1206C>T, NM_001349489.2:c.1206C>T, NM_001349489.1:c.1206C>T, NM_001349521.2:c.1206C>T, NM_001349521.1:c.1206C>T, NM_001289099.2:c.1206C>T, NM_001289099.1:c.1206C>T, NM_001349488.2:c.1455C>T, NM_001349488.1:c.1455C>T, NM_001349506.2:c.1455C>T, NM_001349506.1:c.1455C>T, NM_001349503.2:c.1455C>T, NM_001349503.1:c.1455C>T, NM_001349508.2:c.1455C>T, NM_001349508.1:c.1455C>T, NR_146194.2:n.1552C>T, NR_146194.1:n.1554C>T, NM_001349492.2:c.1455C>T, NM_001349492.1:c.1455C>T, NM_001289098.2:c.1455C>T, NM_001289098.1:c.1455C>T, NM_001349493.2:c.1455C>T, NM_001349493.1:c.1455C>T, NM_001349507.2:c.1455C>T, NM_001349507.1:c.1455C>T, NM_001349504.2:c.1455C>T, NM_001349504.1:c.1455C>T, NM_001349509.2:c.1455C>T, NM_001349509.1:c.1455C>T, NM_001349510.2:c.1407C>T, NM_001349510.1:c.1407C>T, NM_001349511.2:c.1407C>T, NM_001349511.1:c.1407C>T, NM_001349518.2:c.1404C>T, NM_001349518.1:c.1404C>T, NM_001349520.2:c.1455C>T, NM_001349520.1:c.1455C>T, NM_001349514.2:c.1404C>T, NM_001349514.1:c.1404C>T, NM_001349512.2:c.1407C>T, NM_001349512.1:c.1407C>T, NM_001289095.2:c.1404C>T, NM_001289095.1:c.1404C>T, NM_001349517.2:c.1404C>T, NM_001349517.1:c.1404C>T, NM_001349516.2:c.1407C>T, NM_001349516.1:c.1407C>T, NM_001349515.2:c.1404C>T, NM_001349515.1:c.1404C>T, NM_001349519.2:c.1455C>T, NM_001349519.1:c.1455C>T, NM_001349490.2:c.1356C>T, NM_001349490.1:c.1356C>T, NM_001349527.2:c.1455C>T, NM_001349527.1:c.1455C>T, NM_001349524.2:c.1356C>T, NM_001349524.1:c.1356C>T, NM_001349494.2:c.1407C>T, NM_001349494.1:c.1407C>T, NM_001349496.2:c.1404C>T, NM_001349496.1:c.1404C>T, NM_001349495.2:c.1407C>T, NM_001349495.1:c.1407C>T, NM_001349497.2:c.1404C>T, NM_001349497.1:c.1404C>T, NM_001349499.2:c.1455C>T, NM_001349499.1:c.1455C>T, NM_001289100.2:c.1356C>T, NM_001289100.1:c.1356C>T, NM_001349522.2:c.1356C>T, NM_001349522.1:c.1356C>T, NM_001289096.2:c.1356C>T, NM_001289096.1:c.1356C>T, NM_001349500.2:c.1356C>T, NM_001349500.1:c.1356C>T, NM_001349501.2:c.1407C>T, NM_001349501.1:c.1407C>T, NM_001349502.2:c.1404C>T, NM_001349502.1:c.1404C>T, NM_001349491.2:c.1044C>T, NM_001349491.1:c.1044C>T, NR_146193.2:n.1314C>T, NR_146193.1:n.1316C>T, NM_001349533.2:c.1044C>T, NM_001349533.1:c.1044C>T, NM_001349538.2:c.1044C>T, NM_001349538.1:c.1044C>T, NM_001349536.2:c.1044C>T, NM_001349536.1:c.1044C>T, NM_001349540.2:c.1044C>T, NM_001349540.1:c.1044C>T, NM_001349525.2:c.1044C>T, NM_001349525.1:c.1044C>T, NM_001349534.2:c.1044C>T, NM_001349534.1:c.1044C>T, NM_001349537.2:c.1044C>T, NM_001349537.1:c.1044C>T, NM_001349535.2:c.1044C>T, NM_001349535.1:c.1044C>T, NM_001349539.2:c.1044C>T, NM_001349539.1:c.1044C>T, NM_001289101.2:c.1044C>T, NM_001289101.1:c.1044C>T, NM_001349526.2:c.1044C>T, NM_001349526.1:c.1044C>T, NM_001349532.2:c.1044C>T, NM_001349532.1:c.1044C>T, NM_001349498.1:c.1395C>T

      3.

      rs1486425042 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        3:58382643 (GRCh38)
        3:58368370 (GRCh37)
        Canonical SPDI:
        NC_000003.12:58382642:A:G
        Gene:
        PXK (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000224/1 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000223/1 (Estonian)
        HGVS:
        NC_000003.12:g.58382643A>G, NC_000003.11:g.58368370A>G, NM_017771.5:c.331A>G, NM_017771.4:c.331A>G, NM_017771.3:c.331A>G, NM_001349528.2:c.82A>G, NM_001349528.1:c.82A>G, NM_001349513.2:c.82A>G, NM_001349513.1:c.82A>G, NM_001349529.2:c.82A>G, NM_001349529.1:c.82A>G, NM_001349531.2:c.82A>G, NM_001349531.1:c.82A>G, NM_001349530.2:c.82A>G, NM_001349530.1:c.82A>G, NM_001349489.2:c.82A>G, NM_001349489.1:c.82A>G, NM_001349521.2:c.82A>G, NM_001349521.1:c.82A>G, NM_001289099.2:c.82A>G, NM_001289099.1:c.82A>G, NM_001349488.2:c.331A>G, NM_001349488.1:c.331A>G, NM_001349506.2:c.331A>G, NM_001349506.1:c.331A>G, NM_001349503.2:c.331A>G, NM_001349503.1:c.331A>G, NM_001349508.2:c.331A>G, NM_001349508.1:c.331A>G, NR_146194.2:n.428A>G, NR_146194.1:n.430A>G, NM_001349492.2:c.331A>G, NM_001349492.1:c.331A>G, NM_001289098.2:c.331A>G, NM_001289098.1:c.331A>G, NM_001349493.2:c.331A>G, NM_001349493.1:c.331A>G, NM_001349507.2:c.331A>G, NM_001349507.1:c.331A>G, NM_001349504.2:c.331A>G, NM_001349504.1:c.331A>G, NM_001349509.2:c.331A>G, NM_001349509.1:c.331A>G, NM_001349510.2:c.283A>G, NM_001349510.1:c.283A>G, NM_001349511.2:c.283A>G, NM_001349511.1:c.283A>G, NM_001349518.2:c.280A>G, NM_001349518.1:c.280A>G, NM_001349520.2:c.331A>G, NM_001349520.1:c.331A>G, NM_001349514.2:c.280A>G, NM_001349514.1:c.280A>G, NM_001349512.2:c.283A>G, NM_001349512.1:c.283A>G, NM_001289095.2:c.280A>G, NM_001289095.1:c.280A>G, NM_001349517.2:c.280A>G, NM_001349517.1:c.280A>G, NM_001349516.2:c.283A>G, NM_001349516.1:c.283A>G, NM_001349515.2:c.280A>G, NM_001349515.1:c.280A>G, NM_001349519.2:c.331A>G, NM_001349519.1:c.331A>G, NM_001349490.2:c.232A>G, NM_001349490.1:c.232A>G, NM_001349527.2:c.331A>G, NM_001349527.1:c.331A>G, NM_001349524.2:c.232A>G, NM_001349524.1:c.232A>G, NM_001349494.2:c.283A>G, NM_001349494.1:c.283A>G, NM_001349496.2:c.280A>G, NM_001349496.1:c.280A>G, NM_001349495.2:c.283A>G, NM_001349495.1:c.283A>G, NM_001349497.2:c.280A>G, NM_001349497.1:c.280A>G, NM_001349499.2:c.331A>G, NM_001349499.1:c.331A>G, NM_001289100.2:c.232A>G, NM_001289100.1:c.232A>G, NM_001349522.2:c.232A>G, NM_001349522.1:c.232A>G, NM_001289096.2:c.232A>G, NM_001289096.1:c.232A>G, NM_001349500.2:c.232A>G, NM_001349500.1:c.232A>G, NM_001349501.2:c.283A>G, NM_001349501.1:c.283A>G, NM_001349502.2:c.280A>G, NM_001349502.1:c.280A>G, NM_001349498.1:c.271A>G, NP_060241.2:p.Asn111Asp, NP_001336457.1:p.Asn28Asp, NP_001336442.1:p.Asn28Asp, NP_001336458.1:p.Asn28Asp, NP_001336460.1:p.Asn28Asp, NP_001336459.1:p.Asn28Asp, NP_001336418.1:p.Asn28Asp, NP_001336450.1:p.Asn28Asp, NP_001276028.1:p.Asn28Asp, NP_001336417.1:p.Asn111Asp, NP_001336435.1:p.Asn111Asp, NP_001336432.1:p.Asn111Asp, NP_001336437.1:p.Asn111Asp, NP_001336421.1:p.Asn111Asp, NP_001276027.1:p.Asn111Asp, NP_001336422.1:p.Asn111Asp, NP_001336436.1:p.Asn111Asp, NP_001336433.1:p.Asn111Asp, NP_001336438.1:p.Asn111Asp, NP_001336439.1:p.Asn95Asp, NP_001336440.1:p.Asn95Asp, NP_001336447.1:p.Asn94Asp, NP_001336449.1:p.Asn111Asp, NP_001336443.1:p.Asn94Asp, NP_001336441.1:p.Asn95Asp, NP_001276024.1:p.Asn94Asp, NP_001336446.1:p.Asn94Asp, NP_001336445.1:p.Asn95Asp, NP_001336444.1:p.Asn94Asp, NP_001336448.1:p.Asn111Asp, NP_001336419.1:p.Asn78Asp, NP_001336456.1:p.Asn111Asp, NP_001336453.1:p.Asn78Asp, NP_001336423.1:p.Asn95Asp, NP_001336425.1:p.Asn94Asp, NP_001336424.1:p.Asn95Asp, NP_001336426.1:p.Asn94Asp, NP_001336428.1:p.Asn111Asp, NP_001276029.1:p.Asn78Asp, NP_001336451.1:p.Asn78Asp, NP_001276025.1:p.Asn78Asp, NP_001336429.1:p.Asn78Asp, NP_001336430.1:p.Asn95Asp, NP_001336431.1:p.Asn94Asp, NP_001336427.1:p.Asn91Asp

        4.

        rs1483500868 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          3:58397608 (GRCh38)
          3:58383335 (GRCh37)
          Canonical SPDI:
          NC_000003.12:58397607:T:A,NC_000003.12:58397607:T:C
          Gene:
          PXK (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          C=0.000035/1 (TOMMO)
          HGVS:
          NC_000003.12:g.58397608T>A, NC_000003.12:g.58397608T>C, NC_000003.11:g.58383335T>A, NC_000003.11:g.58383335T>C, NM_017771.5:c.988T>A, NM_017771.5:c.988T>C, NM_017771.4:c.988T>A, NM_017771.4:c.988T>C, NM_017771.3:c.988T>A, NM_017771.3:c.988T>C, NM_001349528.2:c.739T>A, NM_001349528.2:c.739T>C, NM_001349528.1:c.739T>A, NM_001349528.1:c.739T>C, NM_001349513.2:c.739T>A, NM_001349513.2:c.739T>C, NM_001349513.1:c.739T>A, NM_001349513.1:c.739T>C, NM_001349529.2:c.739T>A, NM_001349529.2:c.739T>C, NM_001349529.1:c.739T>A, NM_001349529.1:c.739T>C, NM_001349531.2:c.739T>A, NM_001349531.2:c.739T>C, NM_001349531.1:c.739T>A, NM_001349531.1:c.739T>C, NM_001349530.2:c.739T>A, NM_001349530.2:c.739T>C, NM_001349530.1:c.739T>A, NM_001349530.1:c.739T>C, NM_001349489.2:c.739T>A, NM_001349489.2:c.739T>C, NM_001349489.1:c.739T>A, NM_001349489.1:c.739T>C, NM_001349521.2:c.739T>A, NM_001349521.2:c.739T>C, NM_001349521.1:c.739T>A, NM_001349521.1:c.739T>C, NM_001289099.2:c.739T>A, NM_001289099.2:c.739T>C, NM_001289099.1:c.739T>A, NM_001289099.1:c.739T>C, NM_001349488.2:c.988T>A, NM_001349488.2:c.988T>C, NM_001349488.1:c.988T>A, NM_001349488.1:c.988T>C, NM_001349506.2:c.988T>A, NM_001349506.2:c.988T>C, NM_001349506.1:c.988T>A, NM_001349506.1:c.988T>C, NM_001349503.2:c.988T>A, NM_001349503.2:c.988T>C, NM_001349503.1:c.988T>A, NM_001349503.1:c.988T>C, NM_001349508.2:c.988T>A, NM_001349508.2:c.988T>C, NM_001349508.1:c.988T>A, NM_001349508.1:c.988T>C, NR_146194.2:n.1085T>A, NR_146194.2:n.1085T>C, NR_146194.1:n.1087T>A, NR_146194.1:n.1087T>C, NM_001349492.2:c.988T>A, NM_001349492.2:c.988T>C, NM_001349492.1:c.988T>A, NM_001349492.1:c.988T>C, NM_001289098.2:c.988T>A, NM_001289098.2:c.988T>C, NM_001289098.1:c.988T>A, NM_001289098.1:c.988T>C, NM_001349493.2:c.988T>A, NM_001349493.2:c.988T>C, NM_001349493.1:c.988T>A, NM_001349493.1:c.988T>C, NM_001349507.2:c.988T>A, NM_001349507.2:c.988T>C, NM_001349507.1:c.988T>A, NM_001349507.1:c.988T>C, NM_001349504.2:c.988T>A, NM_001349504.2:c.988T>C, NM_001349504.1:c.988T>A, NM_001349504.1:c.988T>C, NM_001349509.2:c.988T>A, NM_001349509.2:c.988T>C, NM_001349509.1:c.988T>A, NM_001349509.1:c.988T>C, NM_001349510.2:c.940T>A, NM_001349510.2:c.940T>C, NM_001349510.1:c.940T>A, NM_001349510.1:c.940T>C, NM_001349511.2:c.940T>A, NM_001349511.2:c.940T>C, NM_001349511.1:c.940T>A, NM_001349511.1:c.940T>C, NM_001349518.2:c.937T>A, NM_001349518.2:c.937T>C, NM_001349518.1:c.937T>A, NM_001349518.1:c.937T>C, NM_001349520.2:c.988T>A, NM_001349520.2:c.988T>C, NM_001349520.1:c.988T>A, NM_001349520.1:c.988T>C, NM_001349514.2:c.937T>A, NM_001349514.2:c.937T>C, NM_001349514.1:c.937T>A, NM_001349514.1:c.937T>C, NM_001349512.2:c.940T>A, NM_001349512.2:c.940T>C, NM_001349512.1:c.940T>A, NM_001349512.1:c.940T>C, NM_001289095.2:c.937T>A, NM_001289095.2:c.937T>C, NM_001289095.1:c.937T>A, NM_001289095.1:c.937T>C, NM_001349517.2:c.937T>A, NM_001349517.2:c.937T>C, NM_001349517.1:c.937T>A, NM_001349517.1:c.937T>C, NM_001349516.2:c.940T>A, NM_001349516.2:c.940T>C, NM_001349516.1:c.940T>A, NM_001349516.1:c.940T>C, NM_001349515.2:c.937T>A, NM_001349515.2:c.937T>C, NM_001349515.1:c.937T>A, NM_001349515.1:c.937T>C, NM_001349519.2:c.988T>A, NM_001349519.2:c.988T>C, NM_001349519.1:c.988T>A, NM_001349519.1:c.988T>C, NM_001349490.2:c.889T>A, NM_001349490.2:c.889T>C, NM_001349490.1:c.889T>A, NM_001349490.1:c.889T>C, NM_001349527.2:c.988T>A, NM_001349527.2:c.988T>C, NM_001349527.1:c.988T>A, NM_001349527.1:c.988T>C, NM_001349524.2:c.889T>A, NM_001349524.2:c.889T>C, NM_001349524.1:c.889T>A, NM_001349524.1:c.889T>C, NM_001349494.2:c.940T>A, NM_001349494.2:c.940T>C, NM_001349494.1:c.940T>A, NM_001349494.1:c.940T>C, NM_001349496.2:c.937T>A, NM_001349496.2:c.937T>C, NM_001349496.1:c.937T>A, NM_001349496.1:c.937T>C, NM_001349495.2:c.940T>A, NM_001349495.2:c.940T>C, NM_001349495.1:c.940T>A, NM_001349495.1:c.940T>C, NM_001349497.2:c.937T>A, NM_001349497.2:c.937T>C, NM_001349497.1:c.937T>A, NM_001349497.1:c.937T>C, NM_001349499.2:c.988T>A, NM_001349499.2:c.988T>C, NM_001349499.1:c.988T>A, NM_001349499.1:c.988T>C, NM_001289100.2:c.889T>A, NM_001289100.2:c.889T>C, NM_001289100.1:c.889T>A, NM_001289100.1:c.889T>C, NM_001349522.2:c.889T>A, NM_001349522.2:c.889T>C, NM_001349522.1:c.889T>A, NM_001349522.1:c.889T>C, NM_001289096.2:c.889T>A, NM_001289096.2:c.889T>C, NM_001289096.1:c.889T>A, NM_001289096.1:c.889T>C, NM_001349500.2:c.889T>A, NM_001349500.2:c.889T>C, NM_001349500.1:c.889T>A, NM_001349500.1:c.889T>C, NM_001349501.2:c.940T>A, NM_001349501.2:c.940T>C, NM_001349501.1:c.940T>A, NM_001349501.1:c.940T>C, NM_001349502.2:c.937T>A, NM_001349502.2:c.937T>C, NM_001349502.1:c.937T>A, NM_001349502.1:c.937T>C, NM_001349491.2:c.577T>A, NM_001349491.2:c.577T>C, NM_001349491.1:c.577T>A, NM_001349491.1:c.577T>C, NR_146193.2:n.847T>A, NR_146193.2:n.847T>C, NR_146193.1:n.849T>A, NR_146193.1:n.849T>C, NM_001349533.2:c.577T>A, NM_001349533.2:c.577T>C, NM_001349533.1:c.577T>A, NM_001349533.1:c.577T>C, NM_001349538.2:c.577T>A, NM_001349538.2:c.577T>C, NM_001349538.1:c.577T>A, NM_001349538.1:c.577T>C, NM_001349536.2:c.577T>A, NM_001349536.2:c.577T>C, NM_001349536.1:c.577T>A, NM_001349536.1:c.577T>C, NM_001349540.2:c.577T>A, NM_001349540.2:c.577T>C, NM_001349540.1:c.577T>A, NM_001349540.1:c.577T>C, NM_001349525.2:c.577T>A, NM_001349525.2:c.577T>C, NM_001349525.1:c.577T>A, NM_001349525.1:c.577T>C, NM_001349534.2:c.577T>A, NM_001349534.2:c.577T>C, NM_001349534.1:c.577T>A, NM_001349534.1:c.577T>C, NM_001349537.2:c.577T>A, NM_001349537.2:c.577T>C, NM_001349537.1:c.577T>A, NM_001349537.1:c.577T>C, NM_001349535.2:c.577T>A, NM_001349535.2:c.577T>C, NM_001349535.1:c.577T>A, NM_001349535.1:c.577T>C, NM_001349539.2:c.577T>A, NM_001349539.2:c.577T>C, NM_001349539.1:c.577T>A, NM_001349539.1:c.577T>C, NM_001289101.2:c.577T>A, NM_001289101.2:c.577T>C, NM_001289101.1:c.577T>A, NM_001289101.1:c.577T>C, NM_001349526.2:c.577T>A, NM_001349526.2:c.577T>C, NM_001349526.1:c.577T>A, NM_001349526.1:c.577T>C, NM_001349532.2:c.577T>A, NM_001349532.2:c.577T>C, NM_001349532.1:c.577T>A, NM_001349532.1:c.577T>C, NM_001349498.1:c.928T>A, NM_001349498.1:c.928T>C, NP_060241.2:p.Leu330Met, NP_001336457.1:p.Leu247Met, NP_001336442.1:p.Leu247Met, NP_001336458.1:p.Leu247Met, NP_001336460.1:p.Leu247Met, NP_001336459.1:p.Leu247Met, NP_001336418.1:p.Leu247Met, NP_001336450.1:p.Leu247Met, NP_001276028.1:p.Leu247Met, NP_001336417.1:p.Leu330Met, NP_001336435.1:p.Leu330Met, NP_001336432.1:p.Leu330Met, NP_001336437.1:p.Leu330Met, NP_001336421.1:p.Leu330Met, NP_001276027.1:p.Leu330Met, NP_001336422.1:p.Leu330Met, NP_001336436.1:p.Leu330Met, NP_001336433.1:p.Leu330Met, NP_001336438.1:p.Leu330Met, NP_001336439.1:p.Leu314Met, NP_001336440.1:p.Leu314Met, NP_001336447.1:p.Leu313Met, NP_001336449.1:p.Leu330Met, NP_001336443.1:p.Leu313Met, NP_001336441.1:p.Leu314Met, NP_001276024.1:p.Leu313Met, NP_001336446.1:p.Leu313Met, NP_001336445.1:p.Leu314Met, NP_001336444.1:p.Leu313Met, NP_001336448.1:p.Leu330Met, NP_001336419.1:p.Leu297Met, NP_001336456.1:p.Leu330Met, NP_001336453.1:p.Leu297Met, NP_001336423.1:p.Leu314Met, NP_001336425.1:p.Leu313Met, NP_001336424.1:p.Leu314Met, NP_001336426.1:p.Leu313Met, NP_001336428.1:p.Leu330Met, NP_001276029.1:p.Leu297Met, NP_001336451.1:p.Leu297Met, NP_001276025.1:p.Leu297Met, NP_001336429.1:p.Leu297Met, NP_001336430.1:p.Leu314Met, NP_001336431.1:p.Leu313Met, NP_001336420.1:p.Leu193Met, NP_001336462.1:p.Leu193Met, NP_001336467.1:p.Leu193Met, NP_001336465.1:p.Leu193Met, NP_001336469.1:p.Leu193Met, NP_001336454.1:p.Leu193Met, NP_001336463.1:p.Leu193Met, NP_001336466.1:p.Leu193Met, NP_001336464.1:p.Leu193Met, NP_001336468.1:p.Leu193Met, NP_001276030.1:p.Leu193Met, NP_001336455.1:p.Leu193Met, NP_001336461.1:p.Leu193Met, NP_001336427.1:p.Leu310Met

          5.

          rs1481243941 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            3:58409613 (GRCh38)
            3:58395340 (GRCh37)
            Canonical SPDI:
            NC_000003.12:58409612:C:G,NC_000003.12:58409612:C:T
            Gene:
            PXK (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000003.12:g.58409613C>G, NC_000003.12:g.58409613C>T, NC_000003.11:g.58395340C>G, NC_000003.11:g.58395340C>T, NM_017771.5:c.1390C>G, NM_017771.5:c.1390C>T, NM_017771.4:c.1390C>G, NM_017771.4:c.1390C>T, NM_017771.3:c.1390C>G, NM_017771.3:c.1390C>T, NM_001349528.2:c.1141C>G, NM_001349528.2:c.1141C>T, NM_001349528.1:c.1141C>G, NM_001349528.1:c.1141C>T, NM_001349513.2:c.1141C>G, NM_001349513.2:c.1141C>T, NM_001349513.1:c.1141C>G, NM_001349513.1:c.1141C>T, NM_001349529.2:c.1141C>G, NM_001349529.2:c.1141C>T, NM_001349529.1:c.1141C>G, NM_001349529.1:c.1141C>T, NM_001349531.2:c.1141C>G, NM_001349531.2:c.1141C>T, NM_001349531.1:c.1141C>G, NM_001349531.1:c.1141C>T, NM_001349530.2:c.1141C>G, NM_001349530.2:c.1141C>T, NM_001349530.1:c.1141C>G, NM_001349530.1:c.1141C>T, NM_001349489.2:c.1141C>G, NM_001349489.2:c.1141C>T, NM_001349489.1:c.1141C>G, NM_001349489.1:c.1141C>T, NM_001349521.2:c.1141C>G, NM_001349521.2:c.1141C>T, NM_001349521.1:c.1141C>G, NM_001349521.1:c.1141C>T, NM_001289099.2:c.1141C>G, NM_001289099.2:c.1141C>T, NM_001289099.1:c.1141C>G, NM_001289099.1:c.1141C>T, NM_001349488.2:c.1390C>G, NM_001349488.2:c.1390C>T, NM_001349488.1:c.1390C>G, NM_001349488.1:c.1390C>T, NM_001349506.2:c.1390C>G, NM_001349506.2:c.1390C>T, NM_001349506.1:c.1390C>G, NM_001349506.1:c.1390C>T, NM_001349503.2:c.1390C>G, NM_001349503.2:c.1390C>T, NM_001349503.1:c.1390C>G, NM_001349503.1:c.1390C>T, NM_001349508.2:c.1390C>G, NM_001349508.2:c.1390C>T, NM_001349508.1:c.1390C>G, NM_001349508.1:c.1390C>T, NR_146194.2:n.1487C>G, NR_146194.2:n.1487C>T, NR_146194.1:n.1489C>G, NR_146194.1:n.1489C>T, NM_001349492.2:c.1390C>G, NM_001349492.2:c.1390C>T, NM_001349492.1:c.1390C>G, NM_001349492.1:c.1390C>T, NM_001289098.2:c.1390C>G, NM_001289098.2:c.1390C>T, NM_001289098.1:c.1390C>G, NM_001289098.1:c.1390C>T, NM_001349493.2:c.1390C>G, NM_001349493.2:c.1390C>T, NM_001349493.1:c.1390C>G, NM_001349493.1:c.1390C>T, NM_001349507.2:c.1390C>G, NM_001349507.2:c.1390C>T, NM_001349507.1:c.1390C>G, NM_001349507.1:c.1390C>T, NM_001349504.2:c.1390C>G, NM_001349504.2:c.1390C>T, NM_001349504.1:c.1390C>G, NM_001349504.1:c.1390C>T, NM_001349509.2:c.1390C>G, NM_001349509.2:c.1390C>T, NM_001349509.1:c.1390C>G, NM_001349509.1:c.1390C>T, NM_001349510.2:c.1342C>G, NM_001349510.2:c.1342C>T, NM_001349510.1:c.1342C>G, NM_001349510.1:c.1342C>T, NM_001349511.2:c.1342C>G, NM_001349511.2:c.1342C>T, NM_001349511.1:c.1342C>G, NM_001349511.1:c.1342C>T, NM_001349518.2:c.1339C>G, NM_001349518.2:c.1339C>T, NM_001349518.1:c.1339C>G, NM_001349518.1:c.1339C>T, NM_001349520.2:c.1390C>G, NM_001349520.2:c.1390C>T, NM_001349520.1:c.1390C>G, NM_001349520.1:c.1390C>T, NM_001349514.2:c.1339C>G, NM_001349514.2:c.1339C>T, NM_001349514.1:c.1339C>G, NM_001349514.1:c.1339C>T, NM_001349512.2:c.1342C>G, NM_001349512.2:c.1342C>T, NM_001349512.1:c.1342C>G, NM_001349512.1:c.1342C>T, NM_001289095.2:c.1339C>G, NM_001289095.2:c.1339C>T, NM_001289095.1:c.1339C>G, NM_001289095.1:c.1339C>T, NM_001349517.2:c.1339C>G, NM_001349517.2:c.1339C>T, NM_001349517.1:c.1339C>G, NM_001349517.1:c.1339C>T, NM_001349516.2:c.1342C>G, NM_001349516.2:c.1342C>T, NM_001349516.1:c.1342C>G, NM_001349516.1:c.1342C>T, NM_001349515.2:c.1339C>G, NM_001349515.2:c.1339C>T, NM_001349515.1:c.1339C>G, NM_001349515.1:c.1339C>T, NM_001349519.2:c.1390C>G, NM_001349519.2:c.1390C>T, NM_001349519.1:c.1390C>G, NM_001349519.1:c.1390C>T, NM_001349490.2:c.1291C>G, NM_001349490.2:c.1291C>T, NM_001349490.1:c.1291C>G, NM_001349490.1:c.1291C>T, NM_001349527.2:c.1390C>G, NM_001349527.2:c.1390C>T, NM_001349527.1:c.1390C>G, NM_001349527.1:c.1390C>T, NM_001349524.2:c.1291C>G, NM_001349524.2:c.1291C>T, NM_001349524.1:c.1291C>G, NM_001349524.1:c.1291C>T, NM_001349494.2:c.1342C>G, NM_001349494.2:c.1342C>T, NM_001349494.1:c.1342C>G, NM_001349494.1:c.1342C>T, NM_001349496.2:c.1339C>G, NM_001349496.2:c.1339C>T, NM_001349496.1:c.1339C>G, NM_001349496.1:c.1339C>T, NM_001349495.2:c.1342C>G, NM_001349495.2:c.1342C>T, NM_001349495.1:c.1342C>G, NM_001349495.1:c.1342C>T, NM_001349497.2:c.1339C>G, NM_001349497.2:c.1339C>T, NM_001349497.1:c.1339C>G, NM_001349497.1:c.1339C>T, NM_001349499.2:c.1390C>G, NM_001349499.2:c.1390C>T, NM_001349499.1:c.1390C>G, NM_001349499.1:c.1390C>T, NM_001289100.2:c.1291C>G, NM_001289100.2:c.1291C>T, NM_001289100.1:c.1291C>G, NM_001289100.1:c.1291C>T, NM_001349522.2:c.1291C>G, NM_001349522.2:c.1291C>T, NM_001349522.1:c.1291C>G, NM_001349522.1:c.1291C>T, NM_001289096.2:c.1291C>G, NM_001289096.2:c.1291C>T, NM_001289096.1:c.1291C>G, NM_001289096.1:c.1291C>T, NM_001349500.2:c.1291C>G, NM_001349500.2:c.1291C>T, NM_001349500.1:c.1291C>G, NM_001349500.1:c.1291C>T, NM_001349501.2:c.1342C>G, NM_001349501.2:c.1342C>T, NM_001349501.1:c.1342C>G, NM_001349501.1:c.1342C>T, NM_001349502.2:c.1339C>G, NM_001349502.2:c.1339C>T, NM_001349502.1:c.1339C>G, NM_001349502.1:c.1339C>T, NM_001349491.2:c.979C>G, NM_001349491.2:c.979C>T, NM_001349491.1:c.979C>G, NM_001349491.1:c.979C>T, NR_146193.2:n.1249C>G, NR_146193.2:n.1249C>T, NR_146193.1:n.1251C>G, NR_146193.1:n.1251C>T, NM_001349533.2:c.979C>G, NM_001349533.2:c.979C>T, NM_001349533.1:c.979C>G, NM_001349533.1:c.979C>T, NM_001349538.2:c.979C>G, NM_001349538.2:c.979C>T, NM_001349538.1:c.979C>G, NM_001349538.1:c.979C>T, NM_001349536.2:c.979C>G, NM_001349536.2:c.979C>T, NM_001349536.1:c.979C>G, NM_001349536.1:c.979C>T, NM_001349540.2:c.979C>G, NM_001349540.2:c.979C>T, NM_001349540.1:c.979C>G, NM_001349540.1:c.979C>T, NM_001349525.2:c.979C>G, NM_001349525.2:c.979C>T, NM_001349525.1:c.979C>G, NM_001349525.1:c.979C>T, NM_001349534.2:c.979C>G, NM_001349534.2:c.979C>T, NM_001349534.1:c.979C>G, NM_001349534.1:c.979C>T, NM_001349537.2:c.979C>G, NM_001349537.2:c.979C>T, NM_001349537.1:c.979C>G, NM_001349537.1:c.979C>T, NM_001349535.2:c.979C>G, NM_001349535.2:c.979C>T, NM_001349535.1:c.979C>G, NM_001349535.1:c.979C>T, NM_001349539.2:c.979C>G, NM_001349539.2:c.979C>T, NM_001349539.1:c.979C>G, NM_001349539.1:c.979C>T, NM_001289101.2:c.979C>G, NM_001289101.2:c.979C>T, NM_001289101.1:c.979C>G, NM_001289101.1:c.979C>T, NM_001349526.2:c.979C>G, NM_001349526.2:c.979C>T, NM_001349526.1:c.979C>G, NM_001349526.1:c.979C>T, NM_001349532.2:c.979C>G, NM_001349532.2:c.979C>T, NM_001349532.1:c.979C>G, NM_001349532.1:c.979C>T, NM_001349498.1:c.1330C>G, NM_001349498.1:c.1330C>T, NP_060241.2:p.Arg464Gly, NP_060241.2:p.Arg464Ter, NP_001336457.1:p.Arg381Gly, NP_001336457.1:p.Arg381Ter, NP_001336442.1:p.Arg381Gly, NP_001336442.1:p.Arg381Ter, NP_001336458.1:p.Arg381Gly, NP_001336458.1:p.Arg381Ter, NP_001336460.1:p.Arg381Gly, NP_001336460.1:p.Arg381Ter, NP_001336459.1:p.Arg381Gly, NP_001336459.1:p.Arg381Ter, NP_001336418.1:p.Arg381Gly, NP_001336418.1:p.Arg381Ter, NP_001336450.1:p.Arg381Gly, NP_001336450.1:p.Arg381Ter, NP_001276028.1:p.Arg381Gly, NP_001276028.1:p.Arg381Ter, NP_001336417.1:p.Arg464Gly, NP_001336417.1:p.Arg464Ter, NP_001336435.1:p.Arg464Gly, NP_001336435.1:p.Arg464Ter, NP_001336432.1:p.Arg464Gly, NP_001336432.1:p.Arg464Ter, NP_001336437.1:p.Arg464Gly, NP_001336437.1:p.Arg464Ter, NP_001336421.1:p.Arg464Gly, NP_001336421.1:p.Arg464Ter, NP_001276027.1:p.Arg464Gly, NP_001276027.1:p.Arg464Ter, NP_001336422.1:p.Arg464Gly, NP_001336422.1:p.Arg464Ter, NP_001336436.1:p.Arg464Gly, NP_001336436.1:p.Arg464Ter, NP_001336433.1:p.Arg464Gly, NP_001336433.1:p.Arg464Ter, NP_001336438.1:p.Arg464Gly, NP_001336438.1:p.Arg464Ter, NP_001336439.1:p.Arg448Gly, NP_001336439.1:p.Arg448Ter, NP_001336440.1:p.Arg448Gly, NP_001336440.1:p.Arg448Ter, NP_001336447.1:p.Arg447Gly, NP_001336447.1:p.Arg447Ter, NP_001336449.1:p.Arg464Gly, NP_001336449.1:p.Arg464Ter, NP_001336443.1:p.Arg447Gly, NP_001336443.1:p.Arg447Ter, NP_001336441.1:p.Arg448Gly, NP_001336441.1:p.Arg448Ter, NP_001276024.1:p.Arg447Gly, NP_001276024.1:p.Arg447Ter, NP_001336446.1:p.Arg447Gly, NP_001336446.1:p.Arg447Ter, NP_001336445.1:p.Arg448Gly, NP_001336445.1:p.Arg448Ter, NP_001336444.1:p.Arg447Gly, NP_001336444.1:p.Arg447Ter, NP_001336448.1:p.Arg464Gly, NP_001336448.1:p.Arg464Ter, NP_001336419.1:p.Arg431Gly, NP_001336419.1:p.Arg431Ter, NP_001336456.1:p.Arg464Gly, NP_001336456.1:p.Arg464Ter, NP_001336453.1:p.Arg431Gly, NP_001336453.1:p.Arg431Ter, NP_001336423.1:p.Arg448Gly, NP_001336423.1:p.Arg448Ter, NP_001336425.1:p.Arg447Gly, NP_001336425.1:p.Arg447Ter, NP_001336424.1:p.Arg448Gly, NP_001336424.1:p.Arg448Ter, NP_001336426.1:p.Arg447Gly, NP_001336426.1:p.Arg447Ter, NP_001336428.1:p.Arg464Gly, NP_001336428.1:p.Arg464Ter, NP_001276029.1:p.Arg431Gly, NP_001276029.1:p.Arg431Ter, NP_001336451.1:p.Arg431Gly, NP_001336451.1:p.Arg431Ter, NP_001276025.1:p.Arg431Gly, NP_001276025.1:p.Arg431Ter, NP_001336429.1:p.Arg431Gly, NP_001336429.1:p.Arg431Ter, NP_001336430.1:p.Arg448Gly, NP_001336430.1:p.Arg448Ter, NP_001336431.1:p.Arg447Gly, NP_001336431.1:p.Arg447Ter, NP_001336420.1:p.Arg327Gly, NP_001336420.1:p.Arg327Ter, NP_001336462.1:p.Arg327Gly, NP_001336462.1:p.Arg327Ter, NP_001336467.1:p.Arg327Gly, NP_001336467.1:p.Arg327Ter, NP_001336465.1:p.Arg327Gly, NP_001336465.1:p.Arg327Ter, NP_001336469.1:p.Arg327Gly, NP_001336469.1:p.Arg327Ter, NP_001336454.1:p.Arg327Gly, NP_001336454.1:p.Arg327Ter, NP_001336463.1:p.Arg327Gly, NP_001336463.1:p.Arg327Ter, NP_001336466.1:p.Arg327Gly, NP_001336466.1:p.Arg327Ter, NP_001336464.1:p.Arg327Gly, NP_001336464.1:p.Arg327Ter, NP_001336468.1:p.Arg327Gly, NP_001336468.1:p.Arg327Ter, NP_001276030.1:p.Arg327Gly, NP_001276030.1:p.Arg327Ter, NP_001336455.1:p.Arg327Gly, NP_001336455.1:p.Arg327Ter, NP_001336461.1:p.Arg327Gly, NP_001336461.1:p.Arg327Ter, NP_001336427.1:p.Arg444Gly, NP_001336427.1:p.Arg444Ter

            6.

            rs1479312373 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:58395672 (GRCh38)
              3:58381399 (GRCh37)
              Canonical SPDI:
              NC_000003.12:58395671:C:G
              Gene:
              PXK (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.58395672C>G, NC_000003.11:g.58381399C>G, NM_017771.5:c.735C>G, NM_017771.4:c.735C>G, NM_017771.3:c.735C>G, NM_001349528.2:c.486C>G, NM_001349528.1:c.486C>G, NM_001349513.2:c.486C>G, NM_001349513.1:c.486C>G, NM_001349529.2:c.486C>G, NM_001349529.1:c.486C>G, NM_001349531.2:c.486C>G, NM_001349531.1:c.486C>G, NM_001349530.2:c.486C>G, NM_001349530.1:c.486C>G, NM_001349489.2:c.486C>G, NM_001349489.1:c.486C>G, NM_001349521.2:c.486C>G, NM_001349521.1:c.486C>G, NM_001289099.2:c.486C>G, NM_001289099.1:c.486C>G, NM_001349488.2:c.735C>G, NM_001349488.1:c.735C>G, NM_001349506.2:c.735C>G, NM_001349506.1:c.735C>G, NM_001349503.2:c.735C>G, NM_001349503.1:c.735C>G, NM_001349508.2:c.735C>G, NM_001349508.1:c.735C>G, NR_146194.2:n.832C>G, NR_146194.1:n.834C>G, NM_001349492.2:c.735C>G, NM_001349492.1:c.735C>G, NM_001289098.2:c.735C>G, NM_001289098.1:c.735C>G, NM_001349493.2:c.735C>G, NM_001349493.1:c.735C>G, NM_001349507.2:c.735C>G, NM_001349507.1:c.735C>G, NM_001349504.2:c.735C>G, NM_001349504.1:c.735C>G, NM_001349509.2:c.735C>G, NM_001349509.1:c.735C>G, NM_001349510.2:c.687C>G, NM_001349510.1:c.687C>G, NM_001349511.2:c.687C>G, NM_001349511.1:c.687C>G, NM_001349518.2:c.684C>G, NM_001349518.1:c.684C>G, NM_001349520.2:c.735C>G, NM_001349520.1:c.735C>G, NM_001349514.2:c.684C>G, NM_001349514.1:c.684C>G, NM_001349512.2:c.687C>G, NM_001349512.1:c.687C>G, NM_001289095.2:c.684C>G, NM_001289095.1:c.684C>G, NM_001349517.2:c.684C>G, NM_001349517.1:c.684C>G, NM_001349516.2:c.687C>G, NM_001349516.1:c.687C>G, NM_001349515.2:c.684C>G, NM_001349515.1:c.684C>G, NM_001349519.2:c.735C>G, NM_001349519.1:c.735C>G, NM_001349490.2:c.636C>G, NM_001349490.1:c.636C>G, NM_001349527.2:c.735C>G, NM_001349527.1:c.735C>G, NM_001349524.2:c.636C>G, NM_001349524.1:c.636C>G, NM_001349494.2:c.687C>G, NM_001349494.1:c.687C>G, NM_001349496.2:c.684C>G, NM_001349496.1:c.684C>G, NM_001349495.2:c.687C>G, NM_001349495.1:c.687C>G, NM_001349497.2:c.684C>G, NM_001349497.1:c.684C>G, NM_001349499.2:c.735C>G, NM_001349499.1:c.735C>G, NM_001289100.2:c.636C>G, NM_001289100.1:c.636C>G, NM_001349522.2:c.636C>G, NM_001349522.1:c.636C>G, NM_001289096.2:c.636C>G, NM_001289096.1:c.636C>G, NM_001349500.2:c.636C>G, NM_001349500.1:c.636C>G, NM_001349501.2:c.687C>G, NM_001349501.1:c.687C>G, NM_001349502.2:c.684C>G, NM_001349502.1:c.684C>G, NM_001349491.2:c.324C>G, NM_001349491.1:c.324C>G, NR_146193.2:n.594C>G, NR_146193.1:n.596C>G, NM_001349533.2:c.324C>G, NM_001349533.1:c.324C>G, NM_001349538.2:c.324C>G, NM_001349538.1:c.324C>G, NM_001349536.2:c.324C>G, NM_001349536.1:c.324C>G, NM_001349540.2:c.324C>G, NM_001349540.1:c.324C>G, NM_001349525.2:c.324C>G, NM_001349525.1:c.324C>G, NM_001349534.2:c.324C>G, NM_001349534.1:c.324C>G, NM_001349537.2:c.324C>G, NM_001349537.1:c.324C>G, NM_001349535.2:c.324C>G, NM_001349535.1:c.324C>G, NM_001349539.2:c.324C>G, NM_001349539.1:c.324C>G, NM_001289101.2:c.324C>G, NM_001289101.1:c.324C>G, NM_001349526.2:c.324C>G, NM_001349526.1:c.324C>G, NM_001349532.2:c.324C>G, NM_001349532.1:c.324C>G, NM_001349498.1:c.675C>G, NP_060241.2:p.Asp245Glu, NP_001336457.1:p.Asp162Glu, NP_001336442.1:p.Asp162Glu, NP_001336458.1:p.Asp162Glu, NP_001336460.1:p.Asp162Glu, NP_001336459.1:p.Asp162Glu, NP_001336418.1:p.Asp162Glu, NP_001336450.1:p.Asp162Glu, NP_001276028.1:p.Asp162Glu, NP_001336417.1:p.Asp245Glu, NP_001336435.1:p.Asp245Glu, NP_001336432.1:p.Asp245Glu, NP_001336437.1:p.Asp245Glu, NP_001336421.1:p.Asp245Glu, NP_001276027.1:p.Asp245Glu, NP_001336422.1:p.Asp245Glu, NP_001336436.1:p.Asp245Glu, NP_001336433.1:p.Asp245Glu, NP_001336438.1:p.Asp245Glu, NP_001336439.1:p.Asp229Glu, NP_001336440.1:p.Asp229Glu, NP_001336447.1:p.Asp228Glu, NP_001336449.1:p.Asp245Glu, NP_001336443.1:p.Asp228Glu, NP_001336441.1:p.Asp229Glu, NP_001276024.1:p.Asp228Glu, NP_001336446.1:p.Asp228Glu, NP_001336445.1:p.Asp229Glu, NP_001336444.1:p.Asp228Glu, NP_001336448.1:p.Asp245Glu, NP_001336419.1:p.Asp212Glu, NP_001336456.1:p.Asp245Glu, NP_001336453.1:p.Asp212Glu, NP_001336423.1:p.Asp229Glu, NP_001336425.1:p.Asp228Glu, NP_001336424.1:p.Asp229Glu, NP_001336426.1:p.Asp228Glu, NP_001336428.1:p.Asp245Glu, NP_001276029.1:p.Asp212Glu, NP_001336451.1:p.Asp212Glu, NP_001276025.1:p.Asp212Glu, NP_001336429.1:p.Asp212Glu, NP_001336430.1:p.Asp229Glu, NP_001336431.1:p.Asp228Glu, NP_001336420.1:p.Asp108Glu, NP_001336462.1:p.Asp108Glu, NP_001336467.1:p.Asp108Glu, NP_001336465.1:p.Asp108Glu, NP_001336469.1:p.Asp108Glu, NP_001336454.1:p.Asp108Glu, NP_001336463.1:p.Asp108Glu, NP_001336466.1:p.Asp108Glu, NP_001336464.1:p.Asp108Glu, NP_001336468.1:p.Asp108Glu, NP_001276030.1:p.Asp108Glu, NP_001336455.1:p.Asp108Glu, NP_001336461.1:p.Asp108Glu, NP_001336427.1:p.Asp225Glu

              7.

              rs1479130106 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:58369462 (GRCh38)
                3:58355189 (GRCh37)
                Canonical SPDI:
                NC_000003.12:58369461:T:C
                Gene:
                PXK (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.58369462T>C, NC_000003.11:g.58355189T>C, NM_017771.5:c.185T>C, NM_017771.4:c.185T>C, NM_017771.3:c.185T>C, NM_001349528.2:c.-221T>C, NM_001349528.1:c.-221T>C, NM_001349513.2:c.-221T>C, NM_001349513.1:c.-221T>C, NM_001349529.2:c.-221T>C, NM_001349529.1:c.-221T>C, NM_001349531.2:c.-221T>C, NM_001349531.1:c.-221T>C, NM_001349530.2:c.-221T>C, NM_001349530.1:c.-221T>C, NM_001349489.2:c.-221T>C, NM_001349489.1:c.-221T>C, NM_001349521.2:c.-221T>C, NM_001349521.1:c.-221T>C, NM_001289099.2:c.-221T>C, NM_001289099.1:c.-221T>C, NM_001349488.2:c.185T>C, NM_001349488.1:c.185T>C, NM_001349506.2:c.185T>C, NM_001349506.1:c.185T>C, NM_001349503.2:c.185T>C, NM_001349503.1:c.185T>C, NM_001349508.2:c.185T>C, NM_001349508.1:c.185T>C, NR_146194.2:n.282T>C, NR_146194.1:n.284T>C, NM_001349492.2:c.185T>C, NM_001349492.1:c.185T>C, NM_001289098.2:c.185T>C, NM_001289098.1:c.185T>C, NM_001349493.2:c.185T>C, NM_001349493.1:c.185T>C, NM_001349507.2:c.185T>C, NM_001349507.1:c.185T>C, NM_001349504.2:c.185T>C, NM_001349504.1:c.185T>C, NM_001349509.2:c.185T>C, NM_001349509.1:c.185T>C, NM_001349518.2:c.134T>C, NM_001349518.1:c.134T>C, NM_001349520.2:c.185T>C, NM_001349520.1:c.185T>C, NM_001349514.2:c.134T>C, NM_001349514.1:c.134T>C, NM_001289095.2:c.134T>C, NM_001289095.1:c.134T>C, NM_001349517.2:c.134T>C, NM_001349517.1:c.134T>C, NM_001349515.2:c.134T>C, NM_001349515.1:c.134T>C, NM_001349519.2:c.185T>C, NM_001349519.1:c.185T>C, NM_001349527.2:c.185T>C, NM_001349527.1:c.185T>C, NM_001349496.2:c.134T>C, NM_001349496.1:c.134T>C, NM_001349497.2:c.134T>C, NM_001349497.1:c.134T>C, NM_001349499.2:c.185T>C, NM_001349499.1:c.185T>C, NM_001349502.2:c.134T>C, NM_001349502.1:c.134T>C, NM_001349491.2:c.-40T>C, NM_001349491.1:c.-40T>C, NR_146193.2:n.231T>C, NR_146193.1:n.233T>C, NM_001349498.1:c.125T>C, NP_060241.2:p.Leu62Pro, NP_001336417.1:p.Leu62Pro, NP_001336435.1:p.Leu62Pro, NP_001336432.1:p.Leu62Pro, NP_001336437.1:p.Leu62Pro, NP_001336421.1:p.Leu62Pro, NP_001276027.1:p.Leu62Pro, NP_001336422.1:p.Leu62Pro, NP_001336436.1:p.Leu62Pro, NP_001336433.1:p.Leu62Pro, NP_001336438.1:p.Leu62Pro, NP_001336447.1:p.Leu45Pro, NP_001336449.1:p.Leu62Pro, NP_001336443.1:p.Leu45Pro, NP_001276024.1:p.Leu45Pro, NP_001336446.1:p.Leu45Pro, NP_001336444.1:p.Leu45Pro, NP_001336448.1:p.Leu62Pro, NP_001336456.1:p.Leu62Pro, NP_001336425.1:p.Leu45Pro, NP_001336426.1:p.Leu45Pro, NP_001336428.1:p.Leu62Pro, NP_001336431.1:p.Leu45Pro, NP_001336427.1:p.Leu42Pro

                8.

                rs1478514723 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:58382592 (GRCh38)
                  3:58368319 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:58382591:A:G
                  Gene:
                  PXK (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                  HGVS:
                  NC_000003.12:g.58382592A>G, NC_000003.11:g.58368319A>G, NM_017771.5:c.280A>G, NM_017771.4:c.280A>G, NM_017771.3:c.280A>G, NM_001349528.2:c.31A>G, NM_001349528.1:c.31A>G, NM_001349513.2:c.31A>G, NM_001349513.1:c.31A>G, NM_001349529.2:c.31A>G, NM_001349529.1:c.31A>G, NM_001349531.2:c.31A>G, NM_001349531.1:c.31A>G, NM_001349530.2:c.31A>G, NM_001349530.1:c.31A>G, NM_001349489.2:c.31A>G, NM_001349489.1:c.31A>G, NM_001349521.2:c.31A>G, NM_001349521.1:c.31A>G, NM_001289099.2:c.31A>G, NM_001289099.1:c.31A>G, NM_001349488.2:c.280A>G, NM_001349488.1:c.280A>G, NM_001349506.2:c.280A>G, NM_001349506.1:c.280A>G, NM_001349503.2:c.280A>G, NM_001349503.1:c.280A>G, NM_001349508.2:c.280A>G, NM_001349508.1:c.280A>G, NR_146194.2:n.377A>G, NR_146194.1:n.379A>G, NM_001349492.2:c.280A>G, NM_001349492.1:c.280A>G, NM_001289098.2:c.280A>G, NM_001289098.1:c.280A>G, NM_001349493.2:c.280A>G, NM_001349493.1:c.280A>G, NM_001349507.2:c.280A>G, NM_001349507.1:c.280A>G, NM_001349504.2:c.280A>G, NM_001349504.1:c.280A>G, NM_001349509.2:c.280A>G, NM_001349509.1:c.280A>G, NM_001349510.2:c.232A>G, NM_001349510.1:c.232A>G, NM_001349511.2:c.232A>G, NM_001349511.1:c.232A>G, NM_001349518.2:c.229A>G, NM_001349518.1:c.229A>G, NM_001349520.2:c.280A>G, NM_001349520.1:c.280A>G, NM_001349514.2:c.229A>G, NM_001349514.1:c.229A>G, NM_001349512.2:c.232A>G, NM_001349512.1:c.232A>G, NM_001289095.2:c.229A>G, NM_001289095.1:c.229A>G, NM_001349517.2:c.229A>G, NM_001349517.1:c.229A>G, NM_001349516.2:c.232A>G, NM_001349516.1:c.232A>G, NM_001349515.2:c.229A>G, NM_001349515.1:c.229A>G, NM_001349519.2:c.280A>G, NM_001349519.1:c.280A>G, NM_001349490.2:c.181A>G, NM_001349490.1:c.181A>G, NM_001349527.2:c.280A>G, NM_001349527.1:c.280A>G, NM_001349524.2:c.181A>G, NM_001349524.1:c.181A>G, NM_001349494.2:c.232A>G, NM_001349494.1:c.232A>G, NM_001349496.2:c.229A>G, NM_001349496.1:c.229A>G, NM_001349495.2:c.232A>G, NM_001349495.1:c.232A>G, NM_001349497.2:c.229A>G, NM_001349497.1:c.229A>G, NM_001349499.2:c.280A>G, NM_001349499.1:c.280A>G, NM_001289100.2:c.181A>G, NM_001289100.1:c.181A>G, NM_001349522.2:c.181A>G, NM_001349522.1:c.181A>G, NM_001289096.2:c.181A>G, NM_001289096.1:c.181A>G, NM_001349500.2:c.181A>G, NM_001349500.1:c.181A>G, NM_001349501.2:c.232A>G, NM_001349501.1:c.232A>G, NM_001349502.2:c.229A>G, NM_001349502.1:c.229A>G, NM_001349498.1:c.220A>G, NP_060241.2:p.Lys94Glu, NP_001336457.1:p.Lys11Glu, NP_001336442.1:p.Lys11Glu, NP_001336458.1:p.Lys11Glu, NP_001336460.1:p.Lys11Glu, NP_001336459.1:p.Lys11Glu, NP_001336418.1:p.Lys11Glu, NP_001336450.1:p.Lys11Glu, NP_001276028.1:p.Lys11Glu, NP_001336417.1:p.Lys94Glu, NP_001336435.1:p.Lys94Glu, NP_001336432.1:p.Lys94Glu, NP_001336437.1:p.Lys94Glu, NP_001336421.1:p.Lys94Glu, NP_001276027.1:p.Lys94Glu, NP_001336422.1:p.Lys94Glu, NP_001336436.1:p.Lys94Glu, NP_001336433.1:p.Lys94Glu, NP_001336438.1:p.Lys94Glu, NP_001336439.1:p.Lys78Glu, NP_001336440.1:p.Lys78Glu, NP_001336447.1:p.Lys77Glu, NP_001336449.1:p.Lys94Glu, NP_001336443.1:p.Lys77Glu, NP_001336441.1:p.Lys78Glu, NP_001276024.1:p.Lys77Glu, NP_001336446.1:p.Lys77Glu, NP_001336445.1:p.Lys78Glu, NP_001336444.1:p.Lys77Glu, NP_001336448.1:p.Lys94Glu, NP_001336419.1:p.Lys61Glu, NP_001336456.1:p.Lys94Glu, NP_001336453.1:p.Lys61Glu, NP_001336423.1:p.Lys78Glu, NP_001336425.1:p.Lys77Glu, NP_001336424.1:p.Lys78Glu, NP_001336426.1:p.Lys77Glu, NP_001336428.1:p.Lys94Glu, NP_001276029.1:p.Lys61Glu, NP_001336451.1:p.Lys61Glu, NP_001276025.1:p.Lys61Glu, NP_001336429.1:p.Lys61Glu, NP_001336430.1:p.Lys78Glu, NP_001336431.1:p.Lys77Glu, NP_001336427.1:p.Lys74Glu

                  9.

                  rs1477153239 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:58408963 (GRCh38)
                    3:58394690 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:58408962:G:A
                    Gene:
                    PXK (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.58408963G>A, NC_000003.11:g.58394690G>A, NM_017771.5:c.1270G>A, NM_017771.4:c.1270G>A, NM_017771.3:c.1270G>A, NM_001349528.2:c.1021G>A, NM_001349528.1:c.1021G>A, NM_001349513.2:c.1021G>A, NM_001349513.1:c.1021G>A, NM_001349529.2:c.1021G>A, NM_001349529.1:c.1021G>A, NM_001349531.2:c.1021G>A, NM_001349531.1:c.1021G>A, NM_001349530.2:c.1021G>A, NM_001349530.1:c.1021G>A, NM_001349489.2:c.1021G>A, NM_001349489.1:c.1021G>A, NM_001349521.2:c.1021G>A, NM_001349521.1:c.1021G>A, NM_001289099.2:c.1021G>A, NM_001289099.1:c.1021G>A, NM_001349488.2:c.1270G>A, NM_001349488.1:c.1270G>A, NM_001349506.2:c.1270G>A, NM_001349506.1:c.1270G>A, NM_001349503.2:c.1270G>A, NM_001349503.1:c.1270G>A, NM_001349508.2:c.1270G>A, NM_001349508.1:c.1270G>A, NR_146194.2:n.1367G>A, NR_146194.1:n.1369G>A, NM_001349492.2:c.1270G>A, NM_001349492.1:c.1270G>A, NM_001289098.2:c.1270G>A, NM_001289098.1:c.1270G>A, NM_001349493.2:c.1270G>A, NM_001349493.1:c.1270G>A, NM_001349507.2:c.1270G>A, NM_001349507.1:c.1270G>A, NM_001349504.2:c.1270G>A, NM_001349504.1:c.1270G>A, NM_001349509.2:c.1270G>A, NM_001349509.1:c.1270G>A, NM_001349510.2:c.1222G>A, NM_001349510.1:c.1222G>A, NM_001349511.2:c.1222G>A, NM_001349511.1:c.1222G>A, NM_001349518.2:c.1219G>A, NM_001349518.1:c.1219G>A, NM_001349520.2:c.1270G>A, NM_001349520.1:c.1270G>A, NM_001349514.2:c.1219G>A, NM_001349514.1:c.1219G>A, NM_001349512.2:c.1222G>A, NM_001349512.1:c.1222G>A, NM_001289095.2:c.1219G>A, NM_001289095.1:c.1219G>A, NM_001349517.2:c.1219G>A, NM_001349517.1:c.1219G>A, NM_001349516.2:c.1222G>A, NM_001349516.1:c.1222G>A, NM_001349515.2:c.1219G>A, NM_001349515.1:c.1219G>A, NM_001349519.2:c.1270G>A, NM_001349519.1:c.1270G>A, NM_001349490.2:c.1171G>A, NM_001349490.1:c.1171G>A, NM_001349527.2:c.1270G>A, NM_001349527.1:c.1270G>A, NM_001349524.2:c.1171G>A, NM_001349524.1:c.1171G>A, NM_001349494.2:c.1222G>A, NM_001349494.1:c.1222G>A, NM_001349496.2:c.1219G>A, NM_001349496.1:c.1219G>A, NM_001349495.2:c.1222G>A, NM_001349495.1:c.1222G>A, NM_001349497.2:c.1219G>A, NM_001349497.1:c.1219G>A, NM_001349499.2:c.1270G>A, NM_001349499.1:c.1270G>A, NM_001289100.2:c.1171G>A, NM_001289100.1:c.1171G>A, NM_001349522.2:c.1171G>A, NM_001349522.1:c.1171G>A, NM_001289096.2:c.1171G>A, NM_001289096.1:c.1171G>A, NM_001349500.2:c.1171G>A, NM_001349500.1:c.1171G>A, NM_001349501.2:c.1222G>A, NM_001349501.1:c.1222G>A, NM_001349502.2:c.1219G>A, NM_001349502.1:c.1219G>A, NM_001349491.2:c.859G>A, NM_001349491.1:c.859G>A, NR_146193.2:n.1129G>A, NR_146193.1:n.1131G>A, NM_001349533.2:c.859G>A, NM_001349533.1:c.859G>A, NM_001349538.2:c.859G>A, NM_001349538.1:c.859G>A, NM_001349536.2:c.859G>A, NM_001349536.1:c.859G>A, NM_001349540.2:c.859G>A, NM_001349540.1:c.859G>A, NM_001349525.2:c.859G>A, NM_001349525.1:c.859G>A, NM_001349534.2:c.859G>A, NM_001349534.1:c.859G>A, NM_001349537.2:c.859G>A, NM_001349537.1:c.859G>A, NM_001349535.2:c.859G>A, NM_001349535.1:c.859G>A, NM_001349539.2:c.859G>A, NM_001349539.1:c.859G>A, NM_001289101.2:c.859G>A, NM_001289101.1:c.859G>A, NM_001349526.2:c.859G>A, NM_001349526.1:c.859G>A, NM_001349532.2:c.859G>A, NM_001349532.1:c.859G>A, NM_001349498.1:c.1210G>A, NP_060241.2:p.Glu424Lys, NP_001336457.1:p.Glu341Lys, NP_001336442.1:p.Glu341Lys, NP_001336458.1:p.Glu341Lys, NP_001336460.1:p.Glu341Lys, NP_001336459.1:p.Glu341Lys, NP_001336418.1:p.Glu341Lys, NP_001336450.1:p.Glu341Lys, NP_001276028.1:p.Glu341Lys, NP_001336417.1:p.Glu424Lys, NP_001336435.1:p.Glu424Lys, NP_001336432.1:p.Glu424Lys, NP_001336437.1:p.Glu424Lys, NP_001336421.1:p.Glu424Lys, NP_001276027.1:p.Glu424Lys, NP_001336422.1:p.Glu424Lys, NP_001336436.1:p.Glu424Lys, NP_001336433.1:p.Glu424Lys, NP_001336438.1:p.Glu424Lys, NP_001336439.1:p.Glu408Lys, NP_001336440.1:p.Glu408Lys, NP_001336447.1:p.Glu407Lys, NP_001336449.1:p.Glu424Lys, NP_001336443.1:p.Glu407Lys, NP_001336441.1:p.Glu408Lys, NP_001276024.1:p.Glu407Lys, NP_001336446.1:p.Glu407Lys, NP_001336445.1:p.Glu408Lys, NP_001336444.1:p.Glu407Lys, NP_001336448.1:p.Glu424Lys, NP_001336419.1:p.Glu391Lys, NP_001336456.1:p.Glu424Lys, NP_001336453.1:p.Glu391Lys, NP_001336423.1:p.Glu408Lys, NP_001336425.1:p.Glu407Lys, NP_001336424.1:p.Glu408Lys, NP_001336426.1:p.Glu407Lys, NP_001336428.1:p.Glu424Lys, NP_001276029.1:p.Glu391Lys, NP_001336451.1:p.Glu391Lys, NP_001276025.1:p.Glu391Lys, NP_001336429.1:p.Glu391Lys, NP_001336430.1:p.Glu408Lys, NP_001336431.1:p.Glu407Lys, NP_001336420.1:p.Glu287Lys, NP_001336462.1:p.Glu287Lys, NP_001336467.1:p.Glu287Lys, NP_001336465.1:p.Glu287Lys, NP_001336469.1:p.Glu287Lys, NP_001336454.1:p.Glu287Lys, NP_001336463.1:p.Glu287Lys, NP_001336466.1:p.Glu287Lys, NP_001336464.1:p.Glu287Lys, NP_001336468.1:p.Glu287Lys, NP_001276030.1:p.Glu287Lys, NP_001336455.1:p.Glu287Lys, NP_001336461.1:p.Glu287Lys, NP_001336427.1:p.Glu404Lys

                    10.

                    rs1476975639 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      3:58412922 (GRCh38)
                      3:58398649 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:58412921:C:A
                      Gene:
                      PXK (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000003.12:g.58412922C>A, NC_000003.11:g.58398649C>A, NM_017771.5:c.1487C>A, NM_017771.4:c.1487C>A, NM_017771.3:c.1487C>A, NM_001349528.2:c.1238C>A, NM_001349528.1:c.1238C>A, NM_001349513.2:c.1238C>A, NM_001349513.1:c.1238C>A, NM_001349529.2:c.1238C>A, NM_001349529.1:c.1238C>A, NM_001349531.2:c.1238C>A, NM_001349531.1:c.1238C>A, NM_001349530.2:c.1235C>A, NM_001349530.1:c.1235C>A, NM_001349489.2:c.1238C>A, NM_001349489.1:c.1238C>A, NM_001349521.2:c.1235C>A, NM_001349521.1:c.1235C>A, NM_001289099.2:c.1238C>A, NM_001289099.1:c.1238C>A, NM_001349488.2:c.1487C>A, NM_001349488.1:c.1487C>A, NM_001349506.2:c.1484C>A, NM_001349506.1:c.1484C>A, NM_001349503.2:c.1487C>A, NM_001349503.1:c.1487C>A, NM_001349508.2:c.1484C>A, NM_001349508.1:c.1484C>A, NR_146194.2:n.1622C>A, NR_146194.1:n.1624C>A, NM_001349492.2:c.1487C>A, NM_001349492.1:c.1487C>A, NM_001289098.2:c.1487C>A, NM_001289098.1:c.1487C>A, NM_001349493.2:c.1484C>A, NM_001349493.1:c.1484C>A, NM_001349507.2:c.1487C>A, NM_001349507.1:c.1487C>A, NM_001349504.2:c.1484C>A, NM_001349504.1:c.1484C>A, NM_001349509.2:c.1484C>A, NM_001349509.1:c.1484C>A, NM_001349510.2:c.1439C>A, NM_001349510.1:c.1439C>A, NM_001349511.2:c.1436C>A, NM_001349511.1:c.1436C>A, NM_001349518.2:c.1433C>A, NM_001349518.1:c.1433C>A, NM_001349514.2:c.1436C>A, NM_001349514.1:c.1436C>A, NM_001349512.2:c.1439C>A, NM_001349512.1:c.1439C>A, NM_001289095.2:c.1433C>A, NM_001289095.1:c.1433C>A, NM_001349517.2:c.1436C>A, NM_001349517.1:c.1436C>A, NM_001349516.2:c.1436C>A, NM_001349516.1:c.1436C>A, NM_001349515.2:c.1433C>A, NM_001349515.1:c.1433C>A, NM_001349490.2:c.1388C>A, NM_001349490.1:c.1388C>A, NM_001349524.2:c.1385C>A, NM_001349524.1:c.1385C>A, NM_001349494.2:c.1439C>A, NM_001349494.1:c.1439C>A, NM_001349496.2:c.1436C>A, NM_001349496.1:c.1436C>A, NM_001349495.2:c.1436C>A, NM_001349495.1:c.1436C>A, NM_001349497.2:c.1433C>A, NM_001349497.1:c.1433C>A, NM_001289100.2:c.1388C>A, NM_001289100.1:c.1388C>A, NM_001349522.2:c.1388C>A, NM_001349522.1:c.1388C>A, NM_001289096.2:c.1388C>A, NM_001289096.1:c.1388C>A, NM_001349500.2:c.1385C>A, NM_001349500.1:c.1385C>A, NM_001349491.2:c.1076C>A, NM_001349491.1:c.1076C>A, NR_146193.2:n.1384C>A, NR_146193.1:n.1386C>A, NM_001349533.2:c.1076C>A, NM_001349533.1:c.1076C>A, NM_001349538.2:c.1073C>A, NM_001349538.1:c.1073C>A, NM_001349536.2:c.1076C>A, NM_001349536.1:c.1076C>A, NM_001349540.2:c.1073C>A, NM_001349540.1:c.1073C>A, NM_001349525.2:c.1076C>A, NM_001349525.1:c.1076C>A, NM_001349534.2:c.1076C>A, NM_001349534.1:c.1076C>A, NM_001349537.2:c.1073C>A, NM_001349537.1:c.1073C>A, NM_001349535.2:c.1076C>A, NM_001349535.1:c.1076C>A, NM_001349539.2:c.1073C>A, NM_001349539.1:c.1073C>A, NM_001289101.2:c.1076C>A, NM_001289101.1:c.1076C>A, NM_001349526.2:c.1073C>A, NM_001349526.1:c.1073C>A, NM_001349498.1:c.1427C>A, NP_060241.2:p.Pro496His, NP_001336457.1:p.Pro413His, NP_001336442.1:p.Pro413His, NP_001336458.1:p.Pro413His, NP_001336460.1:p.Pro413His, NP_001336459.1:p.Pro412His, NP_001336418.1:p.Pro413His, NP_001336450.1:p.Pro412His, NP_001276028.1:p.Pro413His, NP_001336417.1:p.Pro496His, NP_001336435.1:p.Pro495His, NP_001336432.1:p.Pro496His, NP_001336437.1:p.Pro495His, NP_001336421.1:p.Pro496His, NP_001276027.1:p.Pro496His, NP_001336422.1:p.Pro495His, NP_001336436.1:p.Pro496His, NP_001336433.1:p.Pro495His, NP_001336438.1:p.Pro495His, NP_001336439.1:p.Pro480His, NP_001336440.1:p.Pro479His, NP_001336447.1:p.Pro478His, NP_001336443.1:p.Pro479His, NP_001336441.1:p.Pro480His, NP_001276024.1:p.Pro478His, NP_001336446.1:p.Pro479His, NP_001336445.1:p.Pro479His, NP_001336444.1:p.Pro478His, NP_001336419.1:p.Pro463His, NP_001336453.1:p.Pro462His, NP_001336423.1:p.Pro480His, NP_001336425.1:p.Pro479His, NP_001336424.1:p.Pro479His, NP_001336426.1:p.Pro478His, NP_001276029.1:p.Pro463His, NP_001336451.1:p.Pro463His, NP_001276025.1:p.Pro463His, NP_001336429.1:p.Pro462His, NP_001336420.1:p.Pro359His, NP_001336462.1:p.Pro359His, NP_001336467.1:p.Pro358His, NP_001336465.1:p.Pro359His, NP_001336469.1:p.Pro358His, NP_001336454.1:p.Pro359His, NP_001336463.1:p.Pro359His, NP_001336466.1:p.Pro358His, NP_001336464.1:p.Pro359His, NP_001336468.1:p.Pro358His, NP_001276030.1:p.Pro359His, NP_001336455.1:p.Pro358His, NP_001336427.1:p.Pro476His

                      11.

                      rs1476540742 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        3:58395026 (GRCh38)
                        3:58380753 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:58395025:C:T
                        Gene:
                        PXK (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.58395026C>T, NC_000003.11:g.58380753C>T, NM_017771.5:c.644C>T, NM_017771.4:c.644C>T, NM_017771.3:c.644C>T, NM_001349528.2:c.395C>T, NM_001349528.1:c.395C>T, NM_001349513.2:c.395C>T, NM_001349513.1:c.395C>T, NM_001349529.2:c.395C>T, NM_001349529.1:c.395C>T, NM_001349531.2:c.395C>T, NM_001349531.1:c.395C>T, NM_001349530.2:c.395C>T, NM_001349530.1:c.395C>T, NM_001349489.2:c.395C>T, NM_001349489.1:c.395C>T, NM_001349521.2:c.395C>T, NM_001349521.1:c.395C>T, NM_001289099.2:c.395C>T, NM_001289099.1:c.395C>T, NM_001349488.2:c.644C>T, NM_001349488.1:c.644C>T, NM_001349506.2:c.644C>T, NM_001349506.1:c.644C>T, NM_001349503.2:c.644C>T, NM_001349503.1:c.644C>T, NM_001349508.2:c.644C>T, NM_001349508.1:c.644C>T, NR_146194.2:n.741C>T, NR_146194.1:n.743C>T, NM_001349492.2:c.644C>T, NM_001349492.1:c.644C>T, NM_001289098.2:c.644C>T, NM_001289098.1:c.644C>T, NM_001349493.2:c.644C>T, NM_001349493.1:c.644C>T, NM_001349507.2:c.644C>T, NM_001349507.1:c.644C>T, NM_001349504.2:c.644C>T, NM_001349504.1:c.644C>T, NM_001349509.2:c.644C>T, NM_001349509.1:c.644C>T, NM_001349510.2:c.596C>T, NM_001349510.1:c.596C>T, NM_001349511.2:c.596C>T, NM_001349511.1:c.596C>T, NM_001349518.2:c.593C>T, NM_001349518.1:c.593C>T, NM_001349520.2:c.644C>T, NM_001349520.1:c.644C>T, NM_001349514.2:c.593C>T, NM_001349514.1:c.593C>T, NM_001349512.2:c.596C>T, NM_001349512.1:c.596C>T, NM_001289095.2:c.593C>T, NM_001289095.1:c.593C>T, NM_001349517.2:c.593C>T, NM_001349517.1:c.593C>T, NM_001349516.2:c.596C>T, NM_001349516.1:c.596C>T, NM_001349515.2:c.593C>T, NM_001349515.1:c.593C>T, NM_001349519.2:c.644C>T, NM_001349519.1:c.644C>T, NM_001349490.2:c.545C>T, NM_001349490.1:c.545C>T, NM_001349527.2:c.644C>T, NM_001349527.1:c.644C>T, NM_001349524.2:c.545C>T, NM_001349524.1:c.545C>T, NM_001349494.2:c.596C>T, NM_001349494.1:c.596C>T, NM_001349496.2:c.593C>T, NM_001349496.1:c.593C>T, NM_001349495.2:c.596C>T, NM_001349495.1:c.596C>T, NM_001349497.2:c.593C>T, NM_001349497.1:c.593C>T, NM_001349499.2:c.644C>T, NM_001349499.1:c.644C>T, NM_001289100.2:c.545C>T, NM_001289100.1:c.545C>T, NM_001349522.2:c.545C>T, NM_001349522.1:c.545C>T, NM_001289096.2:c.545C>T, NM_001289096.1:c.545C>T, NM_001349500.2:c.545C>T, NM_001349500.1:c.545C>T, NM_001349501.2:c.596C>T, NM_001349501.1:c.596C>T, NM_001349502.2:c.593C>T, NM_001349502.1:c.593C>T, NM_001349491.2:c.233C>T, NM_001349491.1:c.233C>T, NR_146193.2:n.503C>T, NR_146193.1:n.505C>T, NM_001349533.2:c.233C>T, NM_001349533.1:c.233C>T, NM_001349538.2:c.233C>T, NM_001349538.1:c.233C>T, NM_001349536.2:c.233C>T, NM_001349536.1:c.233C>T, NM_001349540.2:c.233C>T, NM_001349540.1:c.233C>T, NM_001349525.2:c.233C>T, NM_001349525.1:c.233C>T, NM_001349534.2:c.233C>T, NM_001349534.1:c.233C>T, NM_001349537.2:c.233C>T, NM_001349537.1:c.233C>T, NM_001349535.2:c.233C>T, NM_001349535.1:c.233C>T, NM_001349539.2:c.233C>T, NM_001349539.1:c.233C>T, NM_001289101.2:c.233C>T, NM_001289101.1:c.233C>T, NM_001349526.2:c.233C>T, NM_001349526.1:c.233C>T, NM_001349532.2:c.233C>T, NM_001349532.1:c.233C>T, NM_001349498.1:c.584C>T, NP_060241.2:p.Ala215Val, NP_001336457.1:p.Ala132Val, NP_001336442.1:p.Ala132Val, NP_001336458.1:p.Ala132Val, NP_001336460.1:p.Ala132Val, NP_001336459.1:p.Ala132Val, NP_001336418.1:p.Ala132Val, NP_001336450.1:p.Ala132Val, NP_001276028.1:p.Ala132Val, NP_001336417.1:p.Ala215Val, NP_001336435.1:p.Ala215Val, NP_001336432.1:p.Ala215Val, NP_001336437.1:p.Ala215Val, NP_001336421.1:p.Ala215Val, NP_001276027.1:p.Ala215Val, NP_001336422.1:p.Ala215Val, NP_001336436.1:p.Ala215Val, NP_001336433.1:p.Ala215Val, NP_001336438.1:p.Ala215Val, NP_001336439.1:p.Ala199Val, NP_001336440.1:p.Ala199Val, NP_001336447.1:p.Ala198Val, NP_001336449.1:p.Ala215Val, NP_001336443.1:p.Ala198Val, NP_001336441.1:p.Ala199Val, NP_001276024.1:p.Ala198Val, NP_001336446.1:p.Ala198Val, NP_001336445.1:p.Ala199Val, NP_001336444.1:p.Ala198Val, NP_001336448.1:p.Ala215Val, NP_001336419.1:p.Ala182Val, NP_001336456.1:p.Ala215Val, NP_001336453.1:p.Ala182Val, NP_001336423.1:p.Ala199Val, NP_001336425.1:p.Ala198Val, NP_001336424.1:p.Ala199Val, NP_001336426.1:p.Ala198Val, NP_001336428.1:p.Ala215Val, NP_001276029.1:p.Ala182Val, NP_001336451.1:p.Ala182Val, NP_001276025.1:p.Ala182Val, NP_001336429.1:p.Ala182Val, NP_001336430.1:p.Ala199Val, NP_001336431.1:p.Ala198Val, NP_001336420.1:p.Ala78Val, NP_001336462.1:p.Ala78Val, NP_001336467.1:p.Ala78Val, NP_001336465.1:p.Ala78Val, NP_001336469.1:p.Ala78Val, NP_001336454.1:p.Ala78Val, NP_001336463.1:p.Ala78Val, NP_001336466.1:p.Ala78Val, NP_001336464.1:p.Ala78Val, NP_001336468.1:p.Ala78Val, NP_001276030.1:p.Ala78Val, NP_001336455.1:p.Ala78Val, NP_001336461.1:p.Ala78Val, NP_001336427.1:p.Ala195Val

                        12.

                        rs1471115316 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          3:58395702 (GRCh38)
                          3:58381429 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:58395701:G:C
                          Gene:
                          PXK (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000047/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.58395702G>C, NC_000003.11:g.58381429G>C, NM_017771.5:c.765G>C, NM_017771.4:c.765G>C, NM_017771.3:c.765G>C, NM_001349528.2:c.516G>C, NM_001349528.1:c.516G>C, NM_001349513.2:c.516G>C, NM_001349513.1:c.516G>C, NM_001349529.2:c.516G>C, NM_001349529.1:c.516G>C, NM_001349531.2:c.516G>C, NM_001349531.1:c.516G>C, NM_001349530.2:c.516G>C, NM_001349530.1:c.516G>C, NM_001349489.2:c.516G>C, NM_001349489.1:c.516G>C, NM_001349521.2:c.516G>C, NM_001349521.1:c.516G>C, NM_001289099.2:c.516G>C, NM_001289099.1:c.516G>C, NM_001349488.2:c.765G>C, NM_001349488.1:c.765G>C, NM_001349506.2:c.765G>C, NM_001349506.1:c.765G>C, NM_001349503.2:c.765G>C, NM_001349503.1:c.765G>C, NM_001349508.2:c.765G>C, NM_001349508.1:c.765G>C, NR_146194.2:n.862G>C, NR_146194.1:n.864G>C, NM_001349492.2:c.765G>C, NM_001349492.1:c.765G>C, NM_001289098.2:c.765G>C, NM_001289098.1:c.765G>C, NM_001349493.2:c.765G>C, NM_001349493.1:c.765G>C, NM_001349507.2:c.765G>C, NM_001349507.1:c.765G>C, NM_001349504.2:c.765G>C, NM_001349504.1:c.765G>C, NM_001349509.2:c.765G>C, NM_001349509.1:c.765G>C, NM_001349510.2:c.717G>C, NM_001349510.1:c.717G>C, NM_001349511.2:c.717G>C, NM_001349511.1:c.717G>C, NM_001349518.2:c.714G>C, NM_001349518.1:c.714G>C, NM_001349520.2:c.765G>C, NM_001349520.1:c.765G>C, NM_001349514.2:c.714G>C, NM_001349514.1:c.714G>C, NM_001349512.2:c.717G>C, NM_001349512.1:c.717G>C, NM_001289095.2:c.714G>C, NM_001289095.1:c.714G>C, NM_001349517.2:c.714G>C, NM_001349517.1:c.714G>C, NM_001349516.2:c.717G>C, NM_001349516.1:c.717G>C, NM_001349515.2:c.714G>C, NM_001349515.1:c.714G>C, NM_001349519.2:c.765G>C, NM_001349519.1:c.765G>C, NM_001349490.2:c.666G>C, NM_001349490.1:c.666G>C, NM_001349527.2:c.765G>C, NM_001349527.1:c.765G>C, NM_001349524.2:c.666G>C, NM_001349524.1:c.666G>C, NM_001349494.2:c.717G>C, NM_001349494.1:c.717G>C, NM_001349496.2:c.714G>C, NM_001349496.1:c.714G>C, NM_001349495.2:c.717G>C, NM_001349495.1:c.717G>C, NM_001349497.2:c.714G>C, NM_001349497.1:c.714G>C, NM_001349499.2:c.765G>C, NM_001349499.1:c.765G>C, NM_001289100.2:c.666G>C, NM_001289100.1:c.666G>C, NM_001349522.2:c.666G>C, NM_001349522.1:c.666G>C, NM_001289096.2:c.666G>C, NM_001289096.1:c.666G>C, NM_001349500.2:c.666G>C, NM_001349500.1:c.666G>C, NM_001349501.2:c.717G>C, NM_001349501.1:c.717G>C, NM_001349502.2:c.714G>C, NM_001349502.1:c.714G>C, NM_001349491.2:c.354G>C, NM_001349491.1:c.354G>C, NR_146193.2:n.624G>C, NR_146193.1:n.626G>C, NM_001349533.2:c.354G>C, NM_001349533.1:c.354G>C, NM_001349538.2:c.354G>C, NM_001349538.1:c.354G>C, NM_001349536.2:c.354G>C, NM_001349536.1:c.354G>C, NM_001349540.2:c.354G>C, NM_001349540.1:c.354G>C, NM_001349525.2:c.354G>C, NM_001349525.1:c.354G>C, NM_001349534.2:c.354G>C, NM_001349534.1:c.354G>C, NM_001349537.2:c.354G>C, NM_001349537.1:c.354G>C, NM_001349535.2:c.354G>C, NM_001349535.1:c.354G>C, NM_001349539.2:c.354G>C, NM_001349539.1:c.354G>C, NM_001289101.2:c.354G>C, NM_001289101.1:c.354G>C, NM_001349526.2:c.354G>C, NM_001349526.1:c.354G>C, NM_001349532.2:c.354G>C, NM_001349532.1:c.354G>C, NM_001349498.1:c.705G>C, NP_060241.2:p.Lys255Asn, NP_001336457.1:p.Lys172Asn, NP_001336442.1:p.Lys172Asn, NP_001336458.1:p.Lys172Asn, NP_001336460.1:p.Lys172Asn, NP_001336459.1:p.Lys172Asn, NP_001336418.1:p.Lys172Asn, NP_001336450.1:p.Lys172Asn, NP_001276028.1:p.Lys172Asn, NP_001336417.1:p.Lys255Asn, NP_001336435.1:p.Lys255Asn, NP_001336432.1:p.Lys255Asn, NP_001336437.1:p.Lys255Asn, NP_001336421.1:p.Lys255Asn, NP_001276027.1:p.Lys255Asn, NP_001336422.1:p.Lys255Asn, NP_001336436.1:p.Lys255Asn, NP_001336433.1:p.Lys255Asn, NP_001336438.1:p.Lys255Asn, NP_001336439.1:p.Lys239Asn, NP_001336440.1:p.Lys239Asn, NP_001336447.1:p.Lys238Asn, NP_001336449.1:p.Lys255Asn, NP_001336443.1:p.Lys238Asn, NP_001336441.1:p.Lys239Asn, NP_001276024.1:p.Lys238Asn, NP_001336446.1:p.Lys238Asn, NP_001336445.1:p.Lys239Asn, NP_001336444.1:p.Lys238Asn, NP_001336448.1:p.Lys255Asn, NP_001336419.1:p.Lys222Asn, NP_001336456.1:p.Lys255Asn, NP_001336453.1:p.Lys222Asn, NP_001336423.1:p.Lys239Asn, NP_001336425.1:p.Lys238Asn, NP_001336424.1:p.Lys239Asn, NP_001336426.1:p.Lys238Asn, NP_001336428.1:p.Lys255Asn, NP_001276029.1:p.Lys222Asn, NP_001336451.1:p.Lys222Asn, NP_001276025.1:p.Lys222Asn, NP_001336429.1:p.Lys222Asn, NP_001336430.1:p.Lys239Asn, NP_001336431.1:p.Lys238Asn, NP_001336420.1:p.Lys118Asn, NP_001336462.1:p.Lys118Asn, NP_001336467.1:p.Lys118Asn, NP_001336465.1:p.Lys118Asn, NP_001336469.1:p.Lys118Asn, NP_001336454.1:p.Lys118Asn, NP_001336463.1:p.Lys118Asn, NP_001336466.1:p.Lys118Asn, NP_001336464.1:p.Lys118Asn, NP_001336468.1:p.Lys118Asn, NP_001276030.1:p.Lys118Asn, NP_001336455.1:p.Lys118Asn, NP_001336461.1:p.Lys118Asn, NP_001336427.1:p.Lys235Asn

                          13.

                          rs1468000957 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:58382608 (GRCh38)
                            3:58368335 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:58382607:A:G
                            Gene:
                            PXK (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.58382608A>G, NC_000003.11:g.58368335A>G, NM_017771.5:c.296A>G, NM_017771.4:c.296A>G, NM_017771.3:c.296A>G, NM_001349528.2:c.47A>G, NM_001349528.1:c.47A>G, NM_001349513.2:c.47A>G, NM_001349513.1:c.47A>G, NM_001349529.2:c.47A>G, NM_001349529.1:c.47A>G, NM_001349531.2:c.47A>G, NM_001349531.1:c.47A>G, NM_001349530.2:c.47A>G, NM_001349530.1:c.47A>G, NM_001349489.2:c.47A>G, NM_001349489.1:c.47A>G, NM_001349521.2:c.47A>G, NM_001349521.1:c.47A>G, NM_001289099.2:c.47A>G, NM_001289099.1:c.47A>G, NM_001349488.2:c.296A>G, NM_001349488.1:c.296A>G, NM_001349506.2:c.296A>G, NM_001349506.1:c.296A>G, NM_001349503.2:c.296A>G, NM_001349503.1:c.296A>G, NM_001349508.2:c.296A>G, NM_001349508.1:c.296A>G, NR_146194.2:n.393A>G, NR_146194.1:n.395A>G, NM_001349492.2:c.296A>G, NM_001349492.1:c.296A>G, NM_001289098.2:c.296A>G, NM_001289098.1:c.296A>G, NM_001349493.2:c.296A>G, NM_001349493.1:c.296A>G, NM_001349507.2:c.296A>G, NM_001349507.1:c.296A>G, NM_001349504.2:c.296A>G, NM_001349504.1:c.296A>G, NM_001349509.2:c.296A>G, NM_001349509.1:c.296A>G, NM_001349510.2:c.248A>G, NM_001349510.1:c.248A>G, NM_001349511.2:c.248A>G, NM_001349511.1:c.248A>G, NM_001349518.2:c.245A>G, NM_001349518.1:c.245A>G, NM_001349520.2:c.296A>G, NM_001349520.1:c.296A>G, NM_001349514.2:c.245A>G, NM_001349514.1:c.245A>G, NM_001349512.2:c.248A>G, NM_001349512.1:c.248A>G, NM_001289095.2:c.245A>G, NM_001289095.1:c.245A>G, NM_001349517.2:c.245A>G, NM_001349517.1:c.245A>G, NM_001349516.2:c.248A>G, NM_001349516.1:c.248A>G, NM_001349515.2:c.245A>G, NM_001349515.1:c.245A>G, NM_001349519.2:c.296A>G, NM_001349519.1:c.296A>G, NM_001349490.2:c.197A>G, NM_001349490.1:c.197A>G, NM_001349527.2:c.296A>G, NM_001349527.1:c.296A>G, NM_001349524.2:c.197A>G, NM_001349524.1:c.197A>G, NM_001349494.2:c.248A>G, NM_001349494.1:c.248A>G, NM_001349496.2:c.245A>G, NM_001349496.1:c.245A>G, NM_001349495.2:c.248A>G, NM_001349495.1:c.248A>G, NM_001349497.2:c.245A>G, NM_001349497.1:c.245A>G, NM_001349499.2:c.296A>G, NM_001349499.1:c.296A>G, NM_001289100.2:c.197A>G, NM_001289100.1:c.197A>G, NM_001349522.2:c.197A>G, NM_001349522.1:c.197A>G, NM_001289096.2:c.197A>G, NM_001289096.1:c.197A>G, NM_001349500.2:c.197A>G, NM_001349500.1:c.197A>G, NM_001349501.2:c.248A>G, NM_001349501.1:c.248A>G, NM_001349502.2:c.245A>G, NM_001349502.1:c.245A>G, NM_001349498.1:c.236A>G, NP_060241.2:p.Tyr99Cys, NP_001336457.1:p.Tyr16Cys, NP_001336442.1:p.Tyr16Cys, NP_001336458.1:p.Tyr16Cys, NP_001336460.1:p.Tyr16Cys, NP_001336459.1:p.Tyr16Cys, NP_001336418.1:p.Tyr16Cys, NP_001336450.1:p.Tyr16Cys, NP_001276028.1:p.Tyr16Cys, NP_001336417.1:p.Tyr99Cys, NP_001336435.1:p.Tyr99Cys, NP_001336432.1:p.Tyr99Cys, NP_001336437.1:p.Tyr99Cys, NP_001336421.1:p.Tyr99Cys, NP_001276027.1:p.Tyr99Cys, NP_001336422.1:p.Tyr99Cys, NP_001336436.1:p.Tyr99Cys, NP_001336433.1:p.Tyr99Cys, NP_001336438.1:p.Tyr99Cys, NP_001336439.1:p.Tyr83Cys, NP_001336440.1:p.Tyr83Cys, NP_001336447.1:p.Tyr82Cys, NP_001336449.1:p.Tyr99Cys, NP_001336443.1:p.Tyr82Cys, NP_001336441.1:p.Tyr83Cys, NP_001276024.1:p.Tyr82Cys, NP_001336446.1:p.Tyr82Cys, NP_001336445.1:p.Tyr83Cys, NP_001336444.1:p.Tyr82Cys, NP_001336448.1:p.Tyr99Cys, NP_001336419.1:p.Tyr66Cys, NP_001336456.1:p.Tyr99Cys, NP_001336453.1:p.Tyr66Cys, NP_001336423.1:p.Tyr83Cys, NP_001336425.1:p.Tyr82Cys, NP_001336424.1:p.Tyr83Cys, NP_001336426.1:p.Tyr82Cys, NP_001336428.1:p.Tyr99Cys, NP_001276029.1:p.Tyr66Cys, NP_001336451.1:p.Tyr66Cys, NP_001276025.1:p.Tyr66Cys, NP_001336429.1:p.Tyr66Cys, NP_001336430.1:p.Tyr83Cys, NP_001336431.1:p.Tyr82Cys, NP_001336427.1:p.Tyr79Cys

                            14.

                            rs1464597958 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:58410099 (GRCh38)
                              3:58395826 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:58410098:C:T
                              Gene:
                              PXK (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,stop_gained,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.58410099C>T, NC_000003.11:g.58395826C>T, NM_017771.5:c.1405C>T, NM_017771.4:c.1405C>T, NM_017771.3:c.1405C>T, NM_001349528.2:c.1156C>T, NM_001349528.1:c.1156C>T, NM_001349513.2:c.1156C>T, NM_001349513.1:c.1156C>T, NM_001349529.2:c.1156C>T, NM_001349529.1:c.1156C>T, NM_001349531.2:c.1156C>T, NM_001349531.1:c.1156C>T, NM_001349530.2:c.1156C>T, NM_001349530.1:c.1156C>T, NM_001349489.2:c.1156C>T, NM_001349489.1:c.1156C>T, NM_001349521.2:c.1156C>T, NM_001349521.1:c.1156C>T, NM_001289099.2:c.1156C>T, NM_001289099.1:c.1156C>T, NM_001349488.2:c.1405C>T, NM_001349488.1:c.1405C>T, NM_001349506.2:c.1405C>T, NM_001349506.1:c.1405C>T, NM_001349503.2:c.1405C>T, NM_001349503.1:c.1405C>T, NM_001349508.2:c.1405C>T, NM_001349508.1:c.1405C>T, NR_146194.2:n.1502C>T, NR_146194.1:n.1504C>T, NM_001349492.2:c.1405C>T, NM_001349492.1:c.1405C>T, NM_001289098.2:c.1405C>T, NM_001289098.1:c.1405C>T, NM_001349493.2:c.1405C>T, NM_001349493.1:c.1405C>T, NM_001349507.2:c.1405C>T, NM_001349507.1:c.1405C>T, NM_001349504.2:c.1405C>T, NM_001349504.1:c.1405C>T, NM_001349509.2:c.1405C>T, NM_001349509.1:c.1405C>T, NM_001349510.2:c.1357C>T, NM_001349510.1:c.1357C>T, NM_001349511.2:c.1357C>T, NM_001349511.1:c.1357C>T, NM_001349518.2:c.1354C>T, NM_001349518.1:c.1354C>T, NM_001349520.2:c.1405C>T, NM_001349520.1:c.1405C>T, NM_001349514.2:c.1354C>T, NM_001349514.1:c.1354C>T, NM_001349512.2:c.1357C>T, NM_001349512.1:c.1357C>T, NM_001289095.2:c.1354C>T, NM_001289095.1:c.1354C>T, NM_001349517.2:c.1354C>T, NM_001349517.1:c.1354C>T, NM_001349516.2:c.1357C>T, NM_001349516.1:c.1357C>T, NM_001349515.2:c.1354C>T, NM_001349515.1:c.1354C>T, NM_001349519.2:c.1405C>T, NM_001349519.1:c.1405C>T, NM_001349490.2:c.1306C>T, NM_001349490.1:c.1306C>T, NM_001349527.2:c.1405C>T, NM_001349527.1:c.1405C>T, NM_001349524.2:c.1306C>T, NM_001349524.1:c.1306C>T, NM_001349494.2:c.1357C>T, NM_001349494.1:c.1357C>T, NM_001349496.2:c.1354C>T, NM_001349496.1:c.1354C>T, NM_001349495.2:c.1357C>T, NM_001349495.1:c.1357C>T, NM_001349497.2:c.1354C>T, NM_001349497.1:c.1354C>T, NM_001349499.2:c.1405C>T, NM_001349499.1:c.1405C>T, NM_001289100.2:c.1306C>T, NM_001289100.1:c.1306C>T, NM_001349522.2:c.1306C>T, NM_001349522.1:c.1306C>T, NM_001289096.2:c.1306C>T, NM_001289096.1:c.1306C>T, NM_001349500.2:c.1306C>T, NM_001349500.1:c.1306C>T, NM_001349501.2:c.1357C>T, NM_001349501.1:c.1357C>T, NM_001349502.2:c.1354C>T, NM_001349502.1:c.1354C>T, NM_001349491.2:c.994C>T, NM_001349491.1:c.994C>T, NR_146193.2:n.1264C>T, NR_146193.1:n.1266C>T, NM_001349533.2:c.994C>T, NM_001349533.1:c.994C>T, NM_001349538.2:c.994C>T, NM_001349538.1:c.994C>T, NM_001349536.2:c.994C>T, NM_001349536.1:c.994C>T, NM_001349540.2:c.994C>T, NM_001349540.1:c.994C>T, NM_001349525.2:c.994C>T, NM_001349525.1:c.994C>T, NM_001349534.2:c.994C>T, NM_001349534.1:c.994C>T, NM_001349537.2:c.994C>T, NM_001349537.1:c.994C>T, NM_001349535.2:c.994C>T, NM_001349535.1:c.994C>T, NM_001349539.2:c.994C>T, NM_001349539.1:c.994C>T, NM_001289101.2:c.994C>T, NM_001289101.1:c.994C>T, NM_001349526.2:c.994C>T, NM_001349526.1:c.994C>T, NM_001349532.2:c.994C>T, NM_001349532.1:c.994C>T, NM_001349498.1:c.1345C>T, NP_060241.2:p.Arg469Ter, NP_001336457.1:p.Arg386Ter, NP_001336442.1:p.Arg386Ter, NP_001336458.1:p.Arg386Ter, NP_001336460.1:p.Arg386Ter, NP_001336459.1:p.Arg386Ter, NP_001336418.1:p.Arg386Ter, NP_001336450.1:p.Arg386Ter, NP_001276028.1:p.Arg386Ter, NP_001336417.1:p.Arg469Ter, NP_001336435.1:p.Arg469Ter, NP_001336432.1:p.Arg469Ter, NP_001336437.1:p.Arg469Ter, NP_001336421.1:p.Arg469Ter, NP_001276027.1:p.Arg469Ter, NP_001336422.1:p.Arg469Ter, NP_001336436.1:p.Arg469Ter, NP_001336433.1:p.Arg469Ter, NP_001336438.1:p.Arg469Ter, NP_001336439.1:p.Arg453Ter, NP_001336440.1:p.Arg453Ter, NP_001336447.1:p.Arg452Ter, NP_001336449.1:p.Arg469Ter, NP_001336443.1:p.Arg452Ter, NP_001336441.1:p.Arg453Ter, NP_001276024.1:p.Arg452Ter, NP_001336446.1:p.Arg452Ter, NP_001336445.1:p.Arg453Ter, NP_001336444.1:p.Arg452Ter, NP_001336448.1:p.Arg469Ter, NP_001336419.1:p.Arg436Ter, NP_001336456.1:p.Arg469Ter, NP_001336453.1:p.Arg436Ter, NP_001336423.1:p.Arg453Ter, NP_001336425.1:p.Arg452Ter, NP_001336424.1:p.Arg453Ter, NP_001336426.1:p.Arg452Ter, NP_001336428.1:p.Arg469Ter, NP_001276029.1:p.Arg436Ter, NP_001336451.1:p.Arg436Ter, NP_001276025.1:p.Arg436Ter, NP_001336429.1:p.Arg436Ter, NP_001336430.1:p.Arg453Ter, NP_001336431.1:p.Arg452Ter, NP_001336420.1:p.Arg332Ter, NP_001336462.1:p.Arg332Ter, NP_001336467.1:p.Arg332Ter, NP_001336465.1:p.Arg332Ter, NP_001336469.1:p.Arg332Ter, NP_001336454.1:p.Arg332Ter, NP_001336463.1:p.Arg332Ter, NP_001336466.1:p.Arg332Ter, NP_001336464.1:p.Arg332Ter, NP_001336468.1:p.Arg332Ter, NP_001276030.1:p.Arg332Ter, NP_001336455.1:p.Arg332Ter, NP_001336461.1:p.Arg332Ter, NP_001336427.1:p.Arg449Ter

                              15.

                              rs1464074869 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                3:58420552 (GRCh38)
                                3:58406279 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:58420551:T:G
                                Gene:
                                PXK (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.58420552T>G, NC_000003.11:g.58406279T>G, NM_001349528.2:c.1296T>G, NM_001349528.1:c.1296T>G, NM_001349529.2:c.1296T>G, NM_001349529.1:c.1296T>G, NM_001349531.2:c.1293T>G, NM_001349531.1:c.1293T>G, NM_001349530.2:c.1293T>G, NM_001349530.1:c.1293T>G, NM_001349488.2:c.1545T>G, NM_001349488.1:c.1545T>G, NM_001349506.2:c.1542T>G, NM_001349506.1:c.1542T>G, NM_001349503.2:c.1542T>G, NM_001349503.1:c.1542T>G, NM_001349508.2:c.1539T>G, NM_001349508.1:c.1539T>G, NM_001289098.2:c.1545T>G, NM_001289098.1:c.1545T>G, NM_001349507.2:c.1542T>G, NM_001349507.1:c.1542T>G, NM_001349504.2:c.1542T>G, NM_001349504.1:c.1542T>G, NM_001349509.2:c.1539T>G, NM_001349509.1:c.1539T>G, NM_001349510.2:c.1497T>G, NM_001349510.1:c.1497T>G, NM_001349511.2:c.1494T>G, NM_001349511.1:c.1494T>G, NM_001349518.2:c.1488T>G, NM_001349518.1:c.1488T>G, NM_001349520.2:c.1482T>G, NM_001349520.1:c.1482T>G, NM_001349514.2:c.1494T>G, NM_001349514.1:c.1494T>G, NM_001349512.2:c.1494T>G, NM_001349512.1:c.1494T>G, NM_001349517.2:c.1491T>G, NM_001349517.1:c.1491T>G, NM_001349516.2:c.1491T>G, NM_001349516.1:c.1491T>G, NM_001349515.2:c.1491T>G, NM_001349515.1:c.1491T>G, NM_001349519.2:c.1482T>G, NM_001349519.1:c.1482T>G, NM_001349490.2:c.1446T>G, NM_001349490.1:c.1446T>G, NM_001349527.2:c.1479T>G, NM_001349527.1:c.1479T>G, NM_001349524.2:c.1440T>G, NM_001349524.1:c.1440T>G, NM_001289100.2:c.1446T>G, NM_001289100.1:c.1446T>G, NM_001349522.2:c.1443T>G, NM_001349522.1:c.1443T>G, NM_001349533.2:c.1134T>G, NM_001349533.1:c.1134T>G, NM_001349538.2:c.1131T>G, NM_001349538.1:c.1131T>G, NM_001349536.2:c.1131T>G, NM_001349536.1:c.1131T>G, NM_001349540.2:c.1128T>G, NM_001349540.1:c.1128T>G, NM_001349534.2:c.1134T>G, NM_001349534.1:c.1134T>G, NM_001349537.2:c.1131T>G, NM_001349537.1:c.1131T>G, NM_001349535.2:c.1131T>G, NM_001349535.1:c.1131T>G, NM_001349539.2:c.1128T>G, NM_001349539.1:c.1128T>G, NP_001336457.1:p.Phe432Leu, NP_001336458.1:p.Phe432Leu, NP_001336460.1:p.Phe431Leu, NP_001336459.1:p.Phe431Leu, NP_001336417.1:p.Phe515Leu, NP_001336435.1:p.Phe514Leu, NP_001336432.1:p.Phe514Leu, NP_001336437.1:p.Phe513Leu, NP_001276027.1:p.Phe515Leu, NP_001336436.1:p.Phe514Leu, NP_001336433.1:p.Phe514Leu, NP_001336438.1:p.Phe513Leu, NP_001336439.1:p.Phe499Leu, NP_001336440.1:p.Phe498Leu, NP_001336447.1:p.Phe496Leu, NP_001336449.1:p.Phe494Leu, NP_001336443.1:p.Phe498Leu, NP_001336441.1:p.Phe498Leu, NP_001336446.1:p.Phe497Leu, NP_001336445.1:p.Phe497Leu, NP_001336444.1:p.Phe497Leu, NP_001336448.1:p.Phe494Leu, NP_001336419.1:p.Phe482Leu, NP_001336456.1:p.Phe493Leu, NP_001336453.1:p.Phe480Leu, NP_001276029.1:p.Phe482Leu, NP_001336451.1:p.Phe481Leu, NP_001336462.1:p.Phe378Leu, NP_001336467.1:p.Phe377Leu, NP_001336465.1:p.Phe377Leu, NP_001336469.1:p.Phe376Leu, NP_001336463.1:p.Phe378Leu, NP_001336466.1:p.Phe377Leu, NP_001336464.1:p.Phe377Leu, NP_001336468.1:p.Phe376Leu

                                16.

                                rs1461383225 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:58397055 (GRCh38)
                                  3:58382782 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:58397054:A:G
                                  Gene:
                                  PXK (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.58397055A>G, NC_000003.11:g.58382782A>G, NM_017771.5:c.839A>G, NM_017771.4:c.839A>G, NM_017771.3:c.839A>G, NM_001349528.2:c.590A>G, NM_001349528.1:c.590A>G, NM_001349513.2:c.590A>G, NM_001349513.1:c.590A>G, NM_001349529.2:c.590A>G, NM_001349529.1:c.590A>G, NM_001349531.2:c.590A>G, NM_001349531.1:c.590A>G, NM_001349530.2:c.590A>G, NM_001349530.1:c.590A>G, NM_001349489.2:c.590A>G, NM_001349489.1:c.590A>G, NM_001349521.2:c.590A>G, NM_001349521.1:c.590A>G, NM_001289099.2:c.590A>G, NM_001289099.1:c.590A>G, NM_001349488.2:c.839A>G, NM_001349488.1:c.839A>G, NM_001349506.2:c.839A>G, NM_001349506.1:c.839A>G, NM_001349503.2:c.839A>G, NM_001349503.1:c.839A>G, NM_001349508.2:c.839A>G, NM_001349508.1:c.839A>G, NR_146194.2:n.936A>G, NR_146194.1:n.938A>G, NM_001349492.2:c.839A>G, NM_001349492.1:c.839A>G, NM_001289098.2:c.839A>G, NM_001289098.1:c.839A>G, NM_001349493.2:c.839A>G, NM_001349493.1:c.839A>G, NM_001349507.2:c.839A>G, NM_001349507.1:c.839A>G, NM_001349504.2:c.839A>G, NM_001349504.1:c.839A>G, NM_001349509.2:c.839A>G, NM_001349509.1:c.839A>G, NM_001349510.2:c.791A>G, NM_001349510.1:c.791A>G, NM_001349511.2:c.791A>G, NM_001349511.1:c.791A>G, NM_001349518.2:c.788A>G, NM_001349518.1:c.788A>G, NM_001349520.2:c.839A>G, NM_001349520.1:c.839A>G, NM_001349514.2:c.788A>G, NM_001349514.1:c.788A>G, NM_001349512.2:c.791A>G, NM_001349512.1:c.791A>G, NM_001289095.2:c.788A>G, NM_001289095.1:c.788A>G, NM_001349517.2:c.788A>G, NM_001349517.1:c.788A>G, NM_001349516.2:c.791A>G, NM_001349516.1:c.791A>G, NM_001349515.2:c.788A>G, NM_001349515.1:c.788A>G, NM_001349519.2:c.839A>G, NM_001349519.1:c.839A>G, NM_001349490.2:c.740A>G, NM_001349490.1:c.740A>G, NM_001349527.2:c.839A>G, NM_001349527.1:c.839A>G, NM_001349524.2:c.740A>G, NM_001349524.1:c.740A>G, NM_001349494.2:c.791A>G, NM_001349494.1:c.791A>G, NM_001349496.2:c.788A>G, NM_001349496.1:c.788A>G, NM_001349495.2:c.791A>G, NM_001349495.1:c.791A>G, NM_001349497.2:c.788A>G, NM_001349497.1:c.788A>G, NM_001349499.2:c.839A>G, NM_001349499.1:c.839A>G, NM_001289100.2:c.740A>G, NM_001289100.1:c.740A>G, NM_001349522.2:c.740A>G, NM_001349522.1:c.740A>G, NM_001289096.2:c.740A>G, NM_001289096.1:c.740A>G, NM_001349500.2:c.740A>G, NM_001349500.1:c.740A>G, NM_001349501.2:c.791A>G, NM_001349501.1:c.791A>G, NM_001349502.2:c.788A>G, NM_001349502.1:c.788A>G, NM_001349491.2:c.428A>G, NM_001349491.1:c.428A>G, NR_146193.2:n.698A>G, NR_146193.1:n.700A>G, NM_001349533.2:c.428A>G, NM_001349533.1:c.428A>G, NM_001349538.2:c.428A>G, NM_001349538.1:c.428A>G, NM_001349536.2:c.428A>G, NM_001349536.1:c.428A>G, NM_001349540.2:c.428A>G, NM_001349540.1:c.428A>G, NM_001349525.2:c.428A>G, NM_001349525.1:c.428A>G, NM_001349534.2:c.428A>G, NM_001349534.1:c.428A>G, NM_001349537.2:c.428A>G, NM_001349537.1:c.428A>G, NM_001349535.2:c.428A>G, NM_001349535.1:c.428A>G, NM_001349539.2:c.428A>G, NM_001349539.1:c.428A>G, NM_001289101.2:c.428A>G, NM_001289101.1:c.428A>G, NM_001349526.2:c.428A>G, NM_001349526.1:c.428A>G, NM_001349532.2:c.428A>G, NM_001349532.1:c.428A>G, NM_001349498.1:c.779A>G, NP_060241.2:p.His280Arg, NP_001336457.1:p.His197Arg, NP_001336442.1:p.His197Arg, NP_001336458.1:p.His197Arg, NP_001336460.1:p.His197Arg, NP_001336459.1:p.His197Arg, NP_001336418.1:p.His197Arg, NP_001336450.1:p.His197Arg, NP_001276028.1:p.His197Arg, NP_001336417.1:p.His280Arg, NP_001336435.1:p.His280Arg, NP_001336432.1:p.His280Arg, NP_001336437.1:p.His280Arg, NP_001336421.1:p.His280Arg, NP_001276027.1:p.His280Arg, NP_001336422.1:p.His280Arg, NP_001336436.1:p.His280Arg, NP_001336433.1:p.His280Arg, NP_001336438.1:p.His280Arg, NP_001336439.1:p.His264Arg, NP_001336440.1:p.His264Arg, NP_001336447.1:p.His263Arg, NP_001336449.1:p.His280Arg, NP_001336443.1:p.His263Arg, NP_001336441.1:p.His264Arg, NP_001276024.1:p.His263Arg, NP_001336446.1:p.His263Arg, NP_001336445.1:p.His264Arg, NP_001336444.1:p.His263Arg, NP_001336448.1:p.His280Arg, NP_001336419.1:p.His247Arg, NP_001336456.1:p.His280Arg, NP_001336453.1:p.His247Arg, NP_001336423.1:p.His264Arg, NP_001336425.1:p.His263Arg, NP_001336424.1:p.His264Arg, NP_001336426.1:p.His263Arg, NP_001336428.1:p.His280Arg, NP_001276029.1:p.His247Arg, NP_001336451.1:p.His247Arg, NP_001276025.1:p.His247Arg, NP_001336429.1:p.His247Arg, NP_001336430.1:p.His264Arg, NP_001336431.1:p.His263Arg, NP_001336420.1:p.His143Arg, NP_001336462.1:p.His143Arg, NP_001336467.1:p.His143Arg, NP_001336465.1:p.His143Arg, NP_001336469.1:p.His143Arg, NP_001336454.1:p.His143Arg, NP_001336463.1:p.His143Arg, NP_001336466.1:p.His143Arg, NP_001336464.1:p.His143Arg, NP_001336468.1:p.His143Arg, NP_001276030.1:p.His143Arg, NP_001336455.1:p.His143Arg, NP_001336461.1:p.His143Arg, NP_001336427.1:p.His260Arg

                                  17.

                                  rs1461338458 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:58408926 (GRCh38)
                                    3:58394653 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:58408925:C:T
                                    Gene:
                                    PXK (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000056/2 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000008/2 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.58408926C>T, NC_000003.11:g.58394653C>T, NM_017771.5:c.1233C>T, NM_017771.4:c.1233C>T, NM_017771.3:c.1233C>T, NM_001349528.2:c.984C>T, NM_001349528.1:c.984C>T, NM_001349513.2:c.984C>T, NM_001349513.1:c.984C>T, NM_001349529.2:c.984C>T, NM_001349529.1:c.984C>T, NM_001349531.2:c.984C>T, NM_001349531.1:c.984C>T, NM_001349530.2:c.984C>T, NM_001349530.1:c.984C>T, NM_001349489.2:c.984C>T, NM_001349489.1:c.984C>T, NM_001349521.2:c.984C>T, NM_001349521.1:c.984C>T, NM_001289099.2:c.984C>T, NM_001289099.1:c.984C>T, NM_001349488.2:c.1233C>T, NM_001349488.1:c.1233C>T, NM_001349506.2:c.1233C>T, NM_001349506.1:c.1233C>T, NM_001349503.2:c.1233C>T, NM_001349503.1:c.1233C>T, NM_001349508.2:c.1233C>T, NM_001349508.1:c.1233C>T, NR_146194.2:n.1330C>T, NR_146194.1:n.1332C>T, NM_001349492.2:c.1233C>T, NM_001349492.1:c.1233C>T, NM_001289098.2:c.1233C>T, NM_001289098.1:c.1233C>T, NM_001349493.2:c.1233C>T, NM_001349493.1:c.1233C>T, NM_001349507.2:c.1233C>T, NM_001349507.1:c.1233C>T, NM_001349504.2:c.1233C>T, NM_001349504.1:c.1233C>T, NM_001349509.2:c.1233C>T, NM_001349509.1:c.1233C>T, NM_001349510.2:c.1185C>T, NM_001349510.1:c.1185C>T, NM_001349511.2:c.1185C>T, NM_001349511.1:c.1185C>T, NM_001349518.2:c.1182C>T, NM_001349518.1:c.1182C>T, NM_001349520.2:c.1233C>T, NM_001349520.1:c.1233C>T, NM_001349514.2:c.1182C>T, NM_001349514.1:c.1182C>T, NM_001349512.2:c.1185C>T, NM_001349512.1:c.1185C>T, NM_001289095.2:c.1182C>T, NM_001289095.1:c.1182C>T, NM_001349517.2:c.1182C>T, NM_001349517.1:c.1182C>T, NM_001349516.2:c.1185C>T, NM_001349516.1:c.1185C>T, NM_001349515.2:c.1182C>T, NM_001349515.1:c.1182C>T, NM_001349519.2:c.1233C>T, NM_001349519.1:c.1233C>T, NM_001349490.2:c.1134C>T, NM_001349490.1:c.1134C>T, NM_001349527.2:c.1233C>T, NM_001349527.1:c.1233C>T, NM_001349524.2:c.1134C>T, NM_001349524.1:c.1134C>T, NM_001349494.2:c.1185C>T, NM_001349494.1:c.1185C>T, NM_001349496.2:c.1182C>T, NM_001349496.1:c.1182C>T, NM_001349495.2:c.1185C>T, NM_001349495.1:c.1185C>T, NM_001349497.2:c.1182C>T, NM_001349497.1:c.1182C>T, NM_001349499.2:c.1233C>T, NM_001349499.1:c.1233C>T, NM_001289100.2:c.1134C>T, NM_001289100.1:c.1134C>T, NM_001349522.2:c.1134C>T, NM_001349522.1:c.1134C>T, NM_001289096.2:c.1134C>T, NM_001289096.1:c.1134C>T, NM_001349500.2:c.1134C>T, NM_001349500.1:c.1134C>T, NM_001349501.2:c.1185C>T, NM_001349501.1:c.1185C>T, NM_001349502.2:c.1182C>T, NM_001349502.1:c.1182C>T, NM_001349491.2:c.822C>T, NM_001349491.1:c.822C>T, NR_146193.2:n.1092C>T, NR_146193.1:n.1094C>T, NM_001349533.2:c.822C>T, NM_001349533.1:c.822C>T, NM_001349538.2:c.822C>T, NM_001349538.1:c.822C>T, NM_001349536.2:c.822C>T, NM_001349536.1:c.822C>T, NM_001349540.2:c.822C>T, NM_001349540.1:c.822C>T, NM_001349525.2:c.822C>T, NM_001349525.1:c.822C>T, NM_001349534.2:c.822C>T, NM_001349534.1:c.822C>T, NM_001349537.2:c.822C>T, NM_001349537.1:c.822C>T, NM_001349535.2:c.822C>T, NM_001349535.1:c.822C>T, NM_001349539.2:c.822C>T, NM_001349539.1:c.822C>T, NM_001289101.2:c.822C>T, NM_001289101.1:c.822C>T, NM_001349526.2:c.822C>T, NM_001349526.1:c.822C>T, NM_001349532.2:c.822C>T, NM_001349532.1:c.822C>T, NM_001349498.1:c.1173C>T

                                    18.

                                    rs1458580247 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:58333025 (GRCh38)
                                      3:58318752 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:58333024:C:T
                                      Gene:
                                      PXK (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                      HGVS:
                                      NC_000003.12:g.58333025C>T, NC_000003.11:g.58318752C>T, NM_017771.5:c.37C>T, NM_017771.4:c.37C>T, NM_017771.3:c.37C>T, NM_001349528.2:c.-369C>T, NM_001349528.1:c.-369C>T, NM_001349513.2:c.-369C>T, NM_001349513.1:c.-369C>T, NM_001349529.2:c.-369C>T, NM_001349529.1:c.-369C>T, NM_001349531.2:c.-369C>T, NM_001349531.1:c.-369C>T, NM_001349530.2:c.-369C>T, NM_001349530.1:c.-369C>T, NM_001349489.2:c.-369C>T, NM_001349489.1:c.-369C>T, NM_001349521.2:c.-369C>T, NM_001349521.1:c.-369C>T, NM_001289099.2:c.-318C>T, NM_001289099.1:c.-318C>T, NM_001349488.2:c.37C>T, NM_001349488.1:c.37C>T, NM_001349506.2:c.37C>T, NM_001349506.1:c.37C>T, NM_001349503.2:c.37C>T, NM_001349503.1:c.37C>T, NM_001349508.2:c.37C>T, NM_001349508.1:c.37C>T, NR_146194.2:n.134C>T, NR_146194.1:n.136C>T, NM_001349492.2:c.37C>T, NM_001349492.1:c.37C>T, NM_001289098.2:c.37C>T, NM_001289098.1:c.37C>T, NM_001349493.2:c.37C>T, NM_001349493.1:c.37C>T, NM_001349507.2:c.37C>T, NM_001349507.1:c.37C>T, NM_001349504.2:c.37C>T, NM_001349504.1:c.37C>T, NM_001349509.2:c.37C>T, NM_001349509.1:c.37C>T, NM_001349510.2:c.37C>T, NM_001349510.1:c.37C>T, NM_001349511.2:c.37C>T, NM_001349511.1:c.37C>T, NM_001349518.2:c.37C>T, NM_001349518.1:c.37C>T, NM_001349520.2:c.37C>T, NM_001349520.1:c.37C>T, NM_001349514.2:c.37C>T, NM_001349514.1:c.37C>T, NM_001349512.2:c.37C>T, NM_001349512.1:c.37C>T, NM_001289095.2:c.37C>T, NM_001289095.1:c.37C>T, NM_001349517.2:c.37C>T, NM_001349517.1:c.37C>T, NM_001349516.2:c.37C>T, NM_001349516.1:c.37C>T, NM_001349515.2:c.37C>T, NM_001349515.1:c.37C>T, NM_001349519.2:c.37C>T, NM_001349519.1:c.37C>T, NM_001349490.2:c.37C>T, NM_001349490.1:c.37C>T, NM_001349527.2:c.37C>T, NM_001349527.1:c.37C>T, NM_001349524.2:c.37C>T, NM_001349524.1:c.37C>T, NM_001349494.2:c.37C>T, NM_001349494.1:c.37C>T, NM_001349496.2:c.37C>T, NM_001349496.1:c.37C>T, NM_001349495.2:c.37C>T, NM_001349495.1:c.37C>T, NM_001349497.2:c.37C>T, NM_001349497.1:c.37C>T, NM_001349499.2:c.37C>T, NM_001349499.1:c.37C>T, NM_001289100.2:c.37C>T, NM_001289100.1:c.37C>T, NM_001349522.2:c.37C>T, NM_001349522.1:c.37C>T, NM_001289096.2:c.37C>T, NM_001289096.1:c.37C>T, NM_001349500.2:c.37C>T, NM_001349500.1:c.37C>T, NM_001349501.2:c.37C>T, NM_001349501.1:c.37C>T, NM_001349502.2:c.37C>T, NM_001349502.1:c.37C>T, NM_001349491.2:c.-188C>T, NM_001349491.1:c.-188C>T, NR_146193.2:n.134C>T, NR_146193.1:n.136C>T, NM_001349533.2:c.-89C>T, NM_001349533.1:c.-89C>T, NM_001349538.2:c.-89C>T, NM_001349538.1:c.-89C>T, NM_001349536.2:c.-89C>T, NM_001349536.1:c.-89C>T, NM_001349540.2:c.-89C>T, NM_001349540.1:c.-89C>T, NM_001349525.2:c.-89C>T, NM_001349525.1:c.-89C>T, NM_001349534.2:c.-89C>T, NM_001349534.1:c.-89C>T, NM_001349537.2:c.-89C>T, NM_001349537.1:c.-89C>T, NM_001349535.2:c.-89C>T, NM_001349535.1:c.-89C>T, NM_001349539.2:c.-89C>T, NM_001349539.1:c.-89C>T, NM_001289101.2:c.-89C>T, NM_001289101.1:c.-89C>T, NM_001349526.2:c.-89C>T, NM_001349526.1:c.-89C>T, NM_001349532.2:c.-89C>T, NM_001349532.1:c.-89C>T

                                      19.

                                      rs1458573302 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        3:58397719 (GRCh38)
                                        3:58383446 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:58397718:G:C
                                        Gene:
                                        PXK (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.0002/1 (ALFA)
                                        C=0.0002/1 (Estonian)
                                        HGVS:
                                        NC_000003.12:g.58397719G>C, NC_000003.11:g.58383446G>C, NM_017771.5:c.1099G>C, NM_017771.4:c.1099G>C, NM_017771.3:c.1099G>C, NM_001349528.2:c.850G>C, NM_001349528.1:c.850G>C, NM_001349513.2:c.850G>C, NM_001349513.1:c.850G>C, NM_001349529.2:c.850G>C, NM_001349529.1:c.850G>C, NM_001349531.2:c.850G>C, NM_001349531.1:c.850G>C, NM_001349530.2:c.850G>C, NM_001349530.1:c.850G>C, NM_001349489.2:c.850G>C, NM_001349489.1:c.850G>C, NM_001349521.2:c.850G>C, NM_001349521.1:c.850G>C, NM_001289099.2:c.850G>C, NM_001289099.1:c.850G>C, NM_001349488.2:c.1099G>C, NM_001349488.1:c.1099G>C, NM_001349506.2:c.1099G>C, NM_001349506.1:c.1099G>C, NM_001349503.2:c.1099G>C, NM_001349503.1:c.1099G>C, NM_001349508.2:c.1099G>C, NM_001349508.1:c.1099G>C, NR_146194.2:n.1196G>C, NR_146194.1:n.1198G>C, NM_001349492.2:c.1099G>C, NM_001349492.1:c.1099G>C, NM_001289098.2:c.1099G>C, NM_001289098.1:c.1099G>C, NM_001349493.2:c.1099G>C, NM_001349493.1:c.1099G>C, NM_001349507.2:c.1099G>C, NM_001349507.1:c.1099G>C, NM_001349504.2:c.1099G>C, NM_001349504.1:c.1099G>C, NM_001349509.2:c.1099G>C, NM_001349509.1:c.1099G>C, NM_001349510.2:c.1051G>C, NM_001349510.1:c.1051G>C, NM_001349511.2:c.1051G>C, NM_001349511.1:c.1051G>C, NM_001349518.2:c.1048G>C, NM_001349518.1:c.1048G>C, NM_001349520.2:c.1099G>C, NM_001349520.1:c.1099G>C, NM_001349514.2:c.1048G>C, NM_001349514.1:c.1048G>C, NM_001349512.2:c.1051G>C, NM_001349512.1:c.1051G>C, NM_001289095.2:c.1048G>C, NM_001289095.1:c.1048G>C, NM_001349517.2:c.1048G>C, NM_001349517.1:c.1048G>C, NM_001349516.2:c.1051G>C, NM_001349516.1:c.1051G>C, NM_001349515.2:c.1048G>C, NM_001349515.1:c.1048G>C, NM_001349519.2:c.1099G>C, NM_001349519.1:c.1099G>C, NM_001349490.2:c.1000G>C, NM_001349490.1:c.1000G>C, NM_001349527.2:c.1099G>C, NM_001349527.1:c.1099G>C, NM_001349524.2:c.1000G>C, NM_001349524.1:c.1000G>C, NM_001349494.2:c.1051G>C, NM_001349494.1:c.1051G>C, NM_001349496.2:c.1048G>C, NM_001349496.1:c.1048G>C, NM_001349495.2:c.1051G>C, NM_001349495.1:c.1051G>C, NM_001349497.2:c.1048G>C, NM_001349497.1:c.1048G>C, NM_001349499.2:c.1099G>C, NM_001349499.1:c.1099G>C, NM_001289100.2:c.1000G>C, NM_001289100.1:c.1000G>C, NM_001349522.2:c.1000G>C, NM_001349522.1:c.1000G>C, NM_001289096.2:c.1000G>C, NM_001289096.1:c.1000G>C, NM_001349500.2:c.1000G>C, NM_001349500.1:c.1000G>C, NM_001349501.2:c.1051G>C, NM_001349501.1:c.1051G>C, NM_001349502.2:c.1048G>C, NM_001349502.1:c.1048G>C, NM_001349491.2:c.688G>C, NM_001349491.1:c.688G>C, NR_146193.2:n.958G>C, NR_146193.1:n.960G>C, NM_001349533.2:c.688G>C, NM_001349533.1:c.688G>C, NM_001349538.2:c.688G>C, NM_001349538.1:c.688G>C, NM_001349536.2:c.688G>C, NM_001349536.1:c.688G>C, NM_001349540.2:c.688G>C, NM_001349540.1:c.688G>C, NM_001349525.2:c.688G>C, NM_001349525.1:c.688G>C, NM_001349534.2:c.688G>C, NM_001349534.1:c.688G>C, NM_001349537.2:c.688G>C, NM_001349537.1:c.688G>C, NM_001349535.2:c.688G>C, NM_001349535.1:c.688G>C, NM_001349539.2:c.688G>C, NM_001349539.1:c.688G>C, NM_001289101.2:c.688G>C, NM_001289101.1:c.688G>C, NM_001349526.2:c.688G>C, NM_001349526.1:c.688G>C, NM_001349532.2:c.688G>C, NM_001349532.1:c.688G>C, NM_001349498.1:c.1039G>C, NP_060241.2:p.Val367Leu, NP_001336457.1:p.Val284Leu, NP_001336442.1:p.Val284Leu, NP_001336458.1:p.Val284Leu, NP_001336460.1:p.Val284Leu, NP_001336459.1:p.Val284Leu, NP_001336418.1:p.Val284Leu, NP_001336450.1:p.Val284Leu, NP_001276028.1:p.Val284Leu, NP_001336417.1:p.Val367Leu, NP_001336435.1:p.Val367Leu, NP_001336432.1:p.Val367Leu, NP_001336437.1:p.Val367Leu, NP_001336421.1:p.Val367Leu, NP_001276027.1:p.Val367Leu, NP_001336422.1:p.Val367Leu, NP_001336436.1:p.Val367Leu, NP_001336433.1:p.Val367Leu, NP_001336438.1:p.Val367Leu, NP_001336439.1:p.Val351Leu, NP_001336440.1:p.Val351Leu, NP_001336447.1:p.Val350Leu, NP_001336449.1:p.Val367Leu, NP_001336443.1:p.Val350Leu, NP_001336441.1:p.Val351Leu, NP_001276024.1:p.Val350Leu, NP_001336446.1:p.Val350Leu, NP_001336445.1:p.Val351Leu, NP_001336444.1:p.Val350Leu, NP_001336448.1:p.Val367Leu, NP_001336419.1:p.Val334Leu, NP_001336456.1:p.Val367Leu, NP_001336453.1:p.Val334Leu, NP_001336423.1:p.Val351Leu, NP_001336425.1:p.Val350Leu, NP_001336424.1:p.Val351Leu, NP_001336426.1:p.Val350Leu, NP_001336428.1:p.Val367Leu, NP_001276029.1:p.Val334Leu, NP_001336451.1:p.Val334Leu, NP_001276025.1:p.Val334Leu, NP_001336429.1:p.Val334Leu, NP_001336430.1:p.Val351Leu, NP_001336431.1:p.Val350Leu, NP_001336420.1:p.Val230Leu, NP_001336462.1:p.Val230Leu, NP_001336467.1:p.Val230Leu, NP_001336465.1:p.Val230Leu, NP_001336469.1:p.Val230Leu, NP_001336454.1:p.Val230Leu, NP_001336463.1:p.Val230Leu, NP_001336466.1:p.Val230Leu, NP_001336464.1:p.Val230Leu, NP_001336468.1:p.Val230Leu, NP_001276030.1:p.Val230Leu, NP_001336455.1:p.Val230Leu, NP_001336461.1:p.Val230Leu, NP_001336427.1:p.Val347Leu

                                        20.

                                        rs1455037781 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          3:58397102 (GRCh38)
                                          3:58382829 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:58397101:C:G
                                          Gene:
                                          PXK (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.58397102C>G, NC_000003.11:g.58382829C>G, NM_017771.5:c.886C>G, NM_017771.4:c.886C>G, NM_017771.3:c.886C>G, NM_001349528.2:c.637C>G, NM_001349528.1:c.637C>G, NM_001349513.2:c.637C>G, NM_001349513.1:c.637C>G, NM_001349529.2:c.637C>G, NM_001349529.1:c.637C>G, NM_001349531.2:c.637C>G, NM_001349531.1:c.637C>G, NM_001349530.2:c.637C>G, NM_001349530.1:c.637C>G, NM_001349489.2:c.637C>G, NM_001349489.1:c.637C>G, NM_001349521.2:c.637C>G, NM_001349521.1:c.637C>G, NM_001289099.2:c.637C>G, NM_001289099.1:c.637C>G, NM_001349488.2:c.886C>G, NM_001349488.1:c.886C>G, NM_001349506.2:c.886C>G, NM_001349506.1:c.886C>G, NM_001349503.2:c.886C>G, NM_001349503.1:c.886C>G, NM_001349508.2:c.886C>G, NM_001349508.1:c.886C>G, NR_146194.2:n.983C>G, NR_146194.1:n.985C>G, NM_001349492.2:c.886C>G, NM_001349492.1:c.886C>G, NM_001289098.2:c.886C>G, NM_001289098.1:c.886C>G, NM_001349493.2:c.886C>G, NM_001349493.1:c.886C>G, NM_001349507.2:c.886C>G, NM_001349507.1:c.886C>G, NM_001349504.2:c.886C>G, NM_001349504.1:c.886C>G, NM_001349509.2:c.886C>G, NM_001349509.1:c.886C>G, NM_001349510.2:c.838C>G, NM_001349510.1:c.838C>G, NM_001349511.2:c.838C>G, NM_001349511.1:c.838C>G, NM_001349518.2:c.835C>G, NM_001349518.1:c.835C>G, NM_001349520.2:c.886C>G, NM_001349520.1:c.886C>G, NM_001349514.2:c.835C>G, NM_001349514.1:c.835C>G, NM_001349512.2:c.838C>G, NM_001349512.1:c.838C>G, NM_001289095.2:c.835C>G, NM_001289095.1:c.835C>G, NM_001349517.2:c.835C>G, NM_001349517.1:c.835C>G, NM_001349516.2:c.838C>G, NM_001349516.1:c.838C>G, NM_001349515.2:c.835C>G, NM_001349515.1:c.835C>G, NM_001349519.2:c.886C>G, NM_001349519.1:c.886C>G, NM_001349490.2:c.787C>G, NM_001349490.1:c.787C>G, NM_001349527.2:c.886C>G, NM_001349527.1:c.886C>G, NM_001349524.2:c.787C>G, NM_001349524.1:c.787C>G, NM_001349494.2:c.838C>G, NM_001349494.1:c.838C>G, NM_001349496.2:c.835C>G, NM_001349496.1:c.835C>G, NM_001349495.2:c.838C>G, NM_001349495.1:c.838C>G, NM_001349497.2:c.835C>G, NM_001349497.1:c.835C>G, NM_001349499.2:c.886C>G, NM_001349499.1:c.886C>G, NM_001289100.2:c.787C>G, NM_001289100.1:c.787C>G, NM_001349522.2:c.787C>G, NM_001349522.1:c.787C>G, NM_001289096.2:c.787C>G, NM_001289096.1:c.787C>G, NM_001349500.2:c.787C>G, NM_001349500.1:c.787C>G, NM_001349501.2:c.838C>G, NM_001349501.1:c.838C>G, NM_001349502.2:c.835C>G, NM_001349502.1:c.835C>G, NM_001349491.2:c.475C>G, NM_001349491.1:c.475C>G, NR_146193.2:n.745C>G, NR_146193.1:n.747C>G, NM_001349533.2:c.475C>G, NM_001349533.1:c.475C>G, NM_001349538.2:c.475C>G, NM_001349538.1:c.475C>G, NM_001349536.2:c.475C>G, NM_001349536.1:c.475C>G, NM_001349540.2:c.475C>G, NM_001349540.1:c.475C>G, NM_001349525.2:c.475C>G, NM_001349525.1:c.475C>G, NM_001349534.2:c.475C>G, NM_001349534.1:c.475C>G, NM_001349537.2:c.475C>G, NM_001349537.1:c.475C>G, NM_001349535.2:c.475C>G, NM_001349535.1:c.475C>G, NM_001349539.2:c.475C>G, NM_001349539.1:c.475C>G, NM_001289101.2:c.475C>G, NM_001289101.1:c.475C>G, NM_001349526.2:c.475C>G, NM_001349526.1:c.475C>G, NM_001349532.2:c.475C>G, NM_001349532.1:c.475C>G, NM_001349498.1:c.826C>G, NP_060241.2:p.Leu296Val, NP_001336457.1:p.Leu213Val, NP_001336442.1:p.Leu213Val, NP_001336458.1:p.Leu213Val, NP_001336460.1:p.Leu213Val, NP_001336459.1:p.Leu213Val, NP_001336418.1:p.Leu213Val, NP_001336450.1:p.Leu213Val, NP_001276028.1:p.Leu213Val, NP_001336417.1:p.Leu296Val, NP_001336435.1:p.Leu296Val, NP_001336432.1:p.Leu296Val, NP_001336437.1:p.Leu296Val, NP_001336421.1:p.Leu296Val, NP_001276027.1:p.Leu296Val, NP_001336422.1:p.Leu296Val, NP_001336436.1:p.Leu296Val, NP_001336433.1:p.Leu296Val, NP_001336438.1:p.Leu296Val, NP_001336439.1:p.Leu280Val, NP_001336440.1:p.Leu280Val, NP_001336447.1:p.Leu279Val, NP_001336449.1:p.Leu296Val, NP_001336443.1:p.Leu279Val, NP_001336441.1:p.Leu280Val, NP_001276024.1:p.Leu279Val, NP_001336446.1:p.Leu279Val, NP_001336445.1:p.Leu280Val, NP_001336444.1:p.Leu279Val, NP_001336448.1:p.Leu296Val, NP_001336419.1:p.Leu263Val, NP_001336456.1:p.Leu296Val, NP_001336453.1:p.Leu263Val, NP_001336423.1:p.Leu280Val, NP_001336425.1:p.Leu279Val, NP_001336424.1:p.Leu280Val, NP_001336426.1:p.Leu279Val, NP_001336428.1:p.Leu296Val, NP_001276029.1:p.Leu263Val, NP_001336451.1:p.Leu263Val, NP_001276025.1:p.Leu263Val, NP_001336429.1:p.Leu263Val, NP_001336430.1:p.Leu280Val, NP_001336431.1:p.Leu279Val, NP_001336420.1:p.Leu159Val, NP_001336462.1:p.Leu159Val, NP_001336467.1:p.Leu159Val, NP_001336465.1:p.Leu159Val, NP_001336469.1:p.Leu159Val, NP_001336454.1:p.Leu159Val, NP_001336463.1:p.Leu159Val, NP_001336466.1:p.Leu159Val, NP_001336464.1:p.Leu159Val, NP_001336468.1:p.Leu159Val, NP_001276030.1:p.Leu159Val, NP_001336455.1:p.Leu159Val, NP_001336461.1:p.Leu159Val, NP_001336427.1:p.Leu276Val

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...