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Items: 1 to 20 of 1284

1.

rs1489071788 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    8:27458651 (GRCh38)
    8:27316168 (GRCh37)
    Canonical SPDI:
    NC_000008.11:27458650:C:G
    Gene:
    PTK2B (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000064/9 (GnomAD)
    HGVS:
    NC_000008.11:g.27458651C>G, NC_000008.10:g.27316168C>G, NG_029510.2:g.152170C>G, NM_004103.4:c.*142C>G, NM_173174.3:c.*142C>G, NM_173174.2:c.*142C>G, NM_173176.3:c.*142C>G, NM_173176.2:c.*142C>G, NM_173175.2:c.*142C>G, NG_015827.1:g.25646G>C, XM_005273447.5:c.*142C>G, XM_005273447.4:c.*142C>G, XM_005273447.3:c.*142C>G, XM_005273447.2:c.*142C>G, XM_005273447.1:c.*142C>G, XM_011544442.4:c.*142C>G, XM_011544442.3:c.*142C>G, XM_011544442.2:c.*142C>G, XM_011544442.1:c.*142C>G, XM_017013216.3:c.*142C>G, XM_017013216.2:c.*142C>G, XM_017013216.1:c.*142C>G, XM_011544441.3:c.*142C>G, XM_011544441.2:c.*142C>G, XM_011544441.1:c.*142C>G, XM_017013214.2:c.*142C>G, XM_017013214.1:c.*142C>G, XM_017013215.2:c.*142C>G, XM_017013215.1:c.*142C>G, XM_047421537.1:c.*142C>G, XM_047421543.1:c.*142C>G, XM_047421532.1:c.*142C>G, XM_047421538.1:c.*142C>G, XM_047421551.1:c.*142C>G, XM_047421533.1:c.*142C>G, XM_047421546.1:c.*142C>G, XM_047421547.1:c.*142C>G, XM_047421549.1:c.*142C>G, XM_047421557.1:c.*142C>G, XM_047421544.1:c.*142C>G, XM_047421536.1:c.*142C>G, XM_047421539.1:c.*142C>G, XM_047421550.1:c.*142C>G, XM_047421555.1:c.*142C>G, XM_047421531.1:c.*142C>G, XM_047421563.1:c.*142C>G, XM_047421534.1:c.*142C>G, XM_047421548.1:c.*142C>G, XM_047421545.1:c.*142C>G, XM_047421535.1:c.*142C>G, XM_047421552.1:c.*142C>G, XM_047421556.1:c.*142C>G, XM_047421540.1:c.*142C>G, XM_047421558.1:c.*142C>G, XM_047421541.1:c.*142C>G, XM_047421553.1:c.*142C>G, XM_047421560.1:c.*142C>G, XM_047421542.1:c.*142C>G, XM_047421559.1:c.*142C>G, XM_047421561.1:c.*142C>G, XM_047421562.1:c.*142C>G, XM_047421564.1:c.*142C>G

    2.

    rs1488199905 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      8:27442977 (GRCh38)
      8:27300494 (GRCh37)
      Canonical SPDI:
      NC_000008.11:27442976:A:T
      Gene:
      PTK2B (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000008.11:g.27442977A>T, NC_000008.10:g.27300494A>T, NG_029510.2:g.136496A>T, NM_004103.4:c.2142A>T, NM_173174.3:c.2142A>T, NM_173174.2:c.2142A>T, NM_173176.3:c.2142A>T, NM_173176.2:c.2142A>T, NM_173175.2:c.2142A>T, XM_005273447.5:c.2142A>T, XM_005273447.4:c.2142A>T, XM_005273447.3:c.2142A>T, XM_005273447.2:c.2142A>T, XM_005273447.1:c.2142A>T, XM_011544442.4:c.2103A>T, XM_011544442.3:c.2103A>T, XM_011544442.2:c.2103A>T, XM_011544442.1:c.2103A>T, XM_017013216.3:c.2103A>T, XM_017013216.2:c.2103A>T, XM_017013216.1:c.2103A>T, XM_011544441.3:c.2142A>T, XM_011544441.2:c.2142A>T, XM_011544441.1:c.2142A>T, XM_017013214.2:c.2142A>T, XM_017013214.1:c.2142A>T, XM_017013215.2:c.2103A>T, XM_017013215.1:c.2103A>T, XM_047421537.1:c.2142A>T, XM_047421543.1:c.2142A>T, XM_047421532.1:c.2142A>T, XM_047421538.1:c.2142A>T, XM_047421551.1:c.2103A>T, XM_047421533.1:c.2142A>T, XM_047421546.1:c.2142A>T, XM_047421547.1:c.2142A>T, XM_047421549.1:c.2103A>T, XM_047421557.1:c.2142A>T, XM_047421544.1:c.2142A>T, XM_047421536.1:c.2142A>T, XM_047421539.1:c.2142A>T, XM_047421550.1:c.2103A>T, XM_047421555.1:c.2142A>T, XM_047421531.1:c.2142A>T, XM_047421563.1:c.2103A>T, XM_047421534.1:c.2142A>T, XM_047421548.1:c.2142A>T, XM_047421545.1:c.2142A>T, XM_047421535.1:c.2142A>T, XM_047421552.1:c.2103A>T, XM_047421556.1:c.2142A>T, XM_047421540.1:c.2142A>T, XM_047421558.1:c.2142A>T, XM_047421541.1:c.2142A>T, XM_047421553.1:c.2103A>T, XM_047421560.1:c.2142A>T, XM_047421542.1:c.2142A>T, XM_047421559.1:c.2142A>T, XM_047421561.1:c.2142A>T, XM_047421562.1:c.2142A>T, XM_047421564.1:c.2103A>T

      3.

      rs1486935709 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        8:27454568 (GRCh38)
        8:27312085 (GRCh37)
        Canonical SPDI:
        NC_000008.11:27454567:T:C,NC_000008.11:27454567:T:G
        Gene:
        PTK2B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.0002/1 (ALFA)
        G=0./0 (Korea1K)
        C=0.0002/1 (Estonian)
        HGVS:
        NC_000008.11:g.27454568T>C, NC_000008.11:g.27454568T>G, NC_000008.10:g.27312085T>C, NC_000008.10:g.27312085T>G, NG_029510.2:g.148087T>C, NG_029510.2:g.148087T>G, NM_004103.4:c.2771T>C, NM_004103.4:c.2771T>G, NM_173174.3:c.2771T>C, NM_173174.3:c.2771T>G, NM_173174.2:c.2771T>C, NM_173174.2:c.2771T>G, NM_173176.3:c.2771T>C, NM_173176.3:c.2771T>G, NM_173176.2:c.2771T>C, NM_173176.2:c.2771T>G, NM_173175.2:c.2645T>C, NM_173175.2:c.2645T>G, XM_005273447.5:c.2771T>C, XM_005273447.5:c.2771T>G, XM_005273447.4:c.2771T>C, XM_005273447.4:c.2771T>G, XM_005273447.3:c.2771T>C, XM_005273447.3:c.2771T>G, XM_005273447.2:c.2771T>C, XM_005273447.2:c.2771T>G, XM_005273447.1:c.2771T>C, XM_005273447.1:c.2771T>G, XM_011544442.4:c.2732T>C, XM_011544442.4:c.2732T>G, XM_011544442.3:c.2732T>C, XM_011544442.3:c.2732T>G, XM_011544442.2:c.2732T>C, XM_011544442.2:c.2732T>G, XM_011544442.1:c.2732T>C, XM_011544442.1:c.2732T>G, XM_017013216.3:c.2696T>C, XM_017013216.3:c.2696T>G, XM_017013216.2:c.2696T>C, XM_017013216.2:c.2696T>G, XM_017013216.1:c.2696T>C, XM_017013216.1:c.2696T>G, XM_011544441.3:c.2771T>C, XM_011544441.3:c.2771T>G, XM_011544441.2:c.2771T>C, XM_011544441.2:c.2771T>G, XM_011544441.1:c.2771T>C, XM_011544441.1:c.2771T>G, XM_017013214.2:c.2771T>C, XM_017013214.2:c.2771T>G, XM_017013214.1:c.2771T>C, XM_017013214.1:c.2771T>G, XM_017013215.2:c.2732T>C, XM_017013215.2:c.2732T>G, XM_017013215.1:c.2732T>C, XM_017013215.1:c.2732T>G, XM_047421537.1:c.2771T>C, XM_047421537.1:c.2771T>G, XM_047421543.1:c.2771T>C, XM_047421543.1:c.2771T>G, XM_047421532.1:c.2771T>C, XM_047421532.1:c.2771T>G, XM_047421538.1:c.2771T>C, XM_047421538.1:c.2771T>G, XM_047421551.1:c.2732T>C, XM_047421551.1:c.2732T>G, XM_047421533.1:c.2771T>C, XM_047421533.1:c.2771T>G, XM_047421546.1:c.2771T>C, XM_047421546.1:c.2771T>G, XM_047421547.1:c.2735T>C, XM_047421547.1:c.2735T>G, XM_047421549.1:c.2732T>C, XM_047421549.1:c.2732T>G, XM_047421557.1:c.2645T>C, XM_047421557.1:c.2645T>G, XM_047421544.1:c.2771T>C, XM_047421544.1:c.2771T>G, XM_047421536.1:c.2771T>C, XM_047421536.1:c.2771T>G, XM_047421539.1:c.2771T>C, XM_047421539.1:c.2771T>G, XM_047421550.1:c.2732T>C, XM_047421550.1:c.2732T>G, XM_047421555.1:c.2645T>C, XM_047421555.1:c.2645T>G, XM_047421531.1:c.2771T>C, XM_047421531.1:c.2771T>G, XM_047421563.1:c.2606T>C, XM_047421563.1:c.2606T>G, XM_047421534.1:c.2771T>C, XM_047421534.1:c.2771T>G, XM_047421548.1:c.2735T>C, XM_047421548.1:c.2735T>G, XM_047421545.1:c.2771T>C, XM_047421545.1:c.2771T>G, XM_047421535.1:c.2771T>C, XM_047421535.1:c.2771T>G, XM_047421552.1:c.2732T>C, XM_047421552.1:c.2732T>G, XM_047421556.1:c.2645T>C, XM_047421556.1:c.2645T>G, XM_047421540.1:c.2771T>C, XM_047421540.1:c.2771T>G, XM_047421558.1:c.2645T>C, XM_047421558.1:c.2645T>G, XM_047421541.1:c.2771T>C, XM_047421541.1:c.2771T>G, XM_047421553.1:c.2732T>C, XM_047421553.1:c.2732T>G, XM_047421560.1:c.2645T>C, XM_047421560.1:c.2645T>G, XM_047421542.1:c.2771T>C, XM_047421542.1:c.2771T>G, XM_047421559.1:c.2645T>C, XM_047421559.1:c.2645T>G, XM_047421561.1:c.2645T>C, XM_047421561.1:c.2645T>G, XM_047421562.1:c.2609T>C, XM_047421562.1:c.2609T>G, XM_047421564.1:c.2606T>C, XM_047421564.1:c.2606T>G, NP_004094.3:p.Val924Ala, NP_004094.3:p.Val924Gly, NP_775266.1:p.Val924Ala, NP_775266.1:p.Val924Gly, NP_775268.1:p.Val924Ala, NP_775268.1:p.Val924Gly, NP_775267.1:p.Val882Ala, NP_775267.1:p.Val882Gly, XP_005273504.1:p.Val924Ala, XP_005273504.1:p.Val924Gly, XP_011542744.1:p.Val911Ala, XP_011542744.1:p.Val911Gly, XP_016868705.1:p.Val899Ala, XP_016868705.1:p.Val899Gly, XP_011542743.1:p.Val924Ala, XP_011542743.1:p.Val924Gly, XP_016868703.1:p.Val924Ala, XP_016868703.1:p.Val924Gly, XP_016868704.1:p.Val911Ala, XP_016868704.1:p.Val911Gly, XP_047277493.1:p.Val924Ala, XP_047277493.1:p.Val924Gly, XP_047277499.1:p.Val924Ala, XP_047277499.1:p.Val924Gly, XP_047277488.1:p.Val924Ala, XP_047277488.1:p.Val924Gly, XP_047277494.1:p.Val924Ala, XP_047277494.1:p.Val924Gly, XP_047277507.1:p.Val911Ala, XP_047277507.1:p.Val911Gly, XP_047277489.1:p.Val924Ala, XP_047277489.1:p.Val924Gly, XP_047277502.1:p.Val924Ala, XP_047277502.1:p.Val924Gly, XP_047277503.1:p.Val912Ala, XP_047277503.1:p.Val912Gly, XP_047277505.1:p.Val911Ala, XP_047277505.1:p.Val911Gly, XP_047277513.1:p.Val882Ala, XP_047277513.1:p.Val882Gly, XP_047277500.1:p.Val924Ala, XP_047277500.1:p.Val924Gly, XP_047277492.1:p.Val924Ala, XP_047277492.1:p.Val924Gly, XP_047277495.1:p.Val924Ala, XP_047277495.1:p.Val924Gly, XP_047277506.1:p.Val911Ala, XP_047277506.1:p.Val911Gly, XP_047277511.1:p.Val882Ala, XP_047277511.1:p.Val882Gly, XP_047277487.1:p.Val924Ala, XP_047277487.1:p.Val924Gly, XP_047277519.1:p.Val869Ala, XP_047277519.1:p.Val869Gly, XP_047277490.1:p.Val924Ala, XP_047277490.1:p.Val924Gly, XP_047277504.1:p.Val912Ala, XP_047277504.1:p.Val912Gly, XP_047277501.1:p.Val924Ala, XP_047277501.1:p.Val924Gly, XP_047277491.1:p.Val924Ala, XP_047277491.1:p.Val924Gly, XP_047277508.1:p.Val911Ala, XP_047277508.1:p.Val911Gly, XP_047277512.1:p.Val882Ala, XP_047277512.1:p.Val882Gly, XP_047277496.1:p.Val924Ala, XP_047277496.1:p.Val924Gly, XP_047277514.1:p.Val882Ala, XP_047277514.1:p.Val882Gly, XP_047277497.1:p.Val924Ala, XP_047277497.1:p.Val924Gly, XP_047277509.1:p.Val911Ala, XP_047277509.1:p.Val911Gly, XP_047277516.1:p.Val882Ala, XP_047277516.1:p.Val882Gly, XP_047277498.1:p.Val924Ala, XP_047277498.1:p.Val924Gly, XP_047277515.1:p.Val882Ala, XP_047277515.1:p.Val882Gly, XP_047277517.1:p.Val882Ala, XP_047277517.1:p.Val882Gly, XP_047277518.1:p.Val870Ala, XP_047277518.1:p.Val870Gly, XP_047277520.1:p.Val869Ala, XP_047277520.1:p.Val869Gly

        4.

        rs1486600375 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          8:27430887 (GRCh38)
          8:27288404 (GRCh37)
          Canonical SPDI:
          NC_000008.11:27430886:C:G
          Gene:
          PTK2B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (GnomAD_exomes)
          G=0.000014/2 (GnomAD)
          G=0.000019/5 (TOPMED)
          HGVS:
          NC_000008.11:g.27430887C>G, NC_000008.10:g.27288404C>G, NG_029510.2:g.124406C>G, NM_004103.4:c.681C>G, NM_173174.3:c.681C>G, NM_173174.2:c.681C>G, NM_173176.3:c.681C>G, NM_173176.2:c.681C>G, NM_173175.2:c.681C>G, XM_005273447.5:c.681C>G, XM_005273447.4:c.681C>G, XM_005273447.3:c.681C>G, XM_005273447.2:c.681C>G, XM_005273447.1:c.681C>G, XM_011544442.4:c.681C>G, XM_011544442.3:c.681C>G, XM_011544442.2:c.681C>G, XM_011544442.1:c.681C>G, XM_017013216.3:c.681C>G, XM_017013216.2:c.681C>G, XM_017013216.1:c.681C>G, XM_011544441.3:c.681C>G, XM_011544441.2:c.681C>G, XM_011544441.1:c.681C>G, XM_017013214.2:c.681C>G, XM_017013214.1:c.681C>G, XM_017013215.2:c.681C>G, XM_017013215.1:c.681C>G, XM_047421537.1:c.681C>G, XM_047421543.1:c.681C>G, XM_047421532.1:c.681C>G, XM_047421538.1:c.681C>G, XM_047421551.1:c.681C>G, XM_047421533.1:c.681C>G, XM_047421546.1:c.681C>G, XM_047421547.1:c.681C>G, XM_047421549.1:c.681C>G, XM_047421557.1:c.681C>G, XM_047421544.1:c.681C>G, XM_047421536.1:c.681C>G, XM_047421539.1:c.681C>G, XM_047421550.1:c.681C>G, XM_047421555.1:c.681C>G, XM_047421531.1:c.681C>G, XM_047421563.1:c.681C>G, XM_047421534.1:c.681C>G, XM_047421548.1:c.681C>G, XM_047421545.1:c.681C>G, XM_047421535.1:c.681C>G, XM_047421552.1:c.681C>G, XM_047421556.1:c.681C>G, XM_047421540.1:c.681C>G, XM_047421558.1:c.681C>G, XM_047421541.1:c.681C>G, XM_047421553.1:c.681C>G, XM_047421560.1:c.681C>G, XM_047421542.1:c.681C>G, XM_047421559.1:c.681C>G, XM_047421561.1:c.681C>G, XM_047421562.1:c.681C>G, XM_047421564.1:c.681C>G, NP_004094.3:p.Phe227Leu, NP_775266.1:p.Phe227Leu, NP_775268.1:p.Phe227Leu, NP_775267.1:p.Phe227Leu, XP_005273504.1:p.Phe227Leu, XP_011542744.1:p.Phe227Leu, XP_016868705.1:p.Phe227Leu, XP_011542743.1:p.Phe227Leu, XP_016868703.1:p.Phe227Leu, XP_016868704.1:p.Phe227Leu, XP_047277493.1:p.Phe227Leu, XP_047277499.1:p.Phe227Leu, XP_047277488.1:p.Phe227Leu, XP_047277494.1:p.Phe227Leu, XP_047277507.1:p.Phe227Leu, XP_047277489.1:p.Phe227Leu, XP_047277502.1:p.Phe227Leu, XP_047277503.1:p.Phe227Leu, XP_047277505.1:p.Phe227Leu, XP_047277513.1:p.Phe227Leu, XP_047277500.1:p.Phe227Leu, XP_047277492.1:p.Phe227Leu, XP_047277495.1:p.Phe227Leu, XP_047277506.1:p.Phe227Leu, XP_047277511.1:p.Phe227Leu, XP_047277487.1:p.Phe227Leu, XP_047277519.1:p.Phe227Leu, XP_047277490.1:p.Phe227Leu, XP_047277504.1:p.Phe227Leu, XP_047277501.1:p.Phe227Leu, XP_047277491.1:p.Phe227Leu, XP_047277508.1:p.Phe227Leu, XP_047277512.1:p.Phe227Leu, XP_047277496.1:p.Phe227Leu, XP_047277514.1:p.Phe227Leu, XP_047277497.1:p.Phe227Leu, XP_047277509.1:p.Phe227Leu, XP_047277516.1:p.Phe227Leu, XP_047277498.1:p.Phe227Leu, XP_047277515.1:p.Phe227Leu, XP_047277517.1:p.Phe227Leu, XP_047277518.1:p.Phe227Leu, XP_047277520.1:p.Phe227Leu

          5.

          rs1486119070 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            8:27440243 (GRCh38)
            8:27297760 (GRCh37)
            Canonical SPDI:
            NC_000008.11:27440242:G:C
            Gene:
            PTK2B (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.27440243G>C, NC_000008.10:g.27297760G>C, NG_029510.2:g.133762G>C, NM_004103.4:c.1841G>C, NM_173174.3:c.1841G>C, NM_173174.2:c.1841G>C, NM_173176.3:c.1841G>C, NM_173176.2:c.1841G>C, NM_173175.2:c.1841G>C, XM_005273447.5:c.1841G>C, XM_005273447.4:c.1841G>C, XM_005273447.3:c.1841G>C, XM_005273447.2:c.1841G>C, XM_005273447.1:c.1841G>C, XM_011544442.4:c.1802G>C, XM_011544442.3:c.1802G>C, XM_011544442.2:c.1802G>C, XM_011544442.1:c.1802G>C, XM_017013216.3:c.1802G>C, XM_017013216.2:c.1802G>C, XM_017013216.1:c.1802G>C, XM_011544441.3:c.1841G>C, XM_011544441.2:c.1841G>C, XM_011544441.1:c.1841G>C, XM_017013214.2:c.1841G>C, XM_017013214.1:c.1841G>C, XM_017013215.2:c.1802G>C, XM_017013215.1:c.1802G>C, XM_047421537.1:c.1841G>C, XM_047421543.1:c.1841G>C, XM_047421532.1:c.1841G>C, XM_047421538.1:c.1841G>C, XM_047421551.1:c.1802G>C, XM_047421533.1:c.1841G>C, XM_047421546.1:c.1841G>C, XM_047421547.1:c.1841G>C, XM_047421549.1:c.1802G>C, XM_047421557.1:c.1841G>C, XM_047421544.1:c.1841G>C, XM_047421536.1:c.1841G>C, XM_047421539.1:c.1841G>C, XM_047421550.1:c.1802G>C, XM_047421555.1:c.1841G>C, XM_047421531.1:c.1841G>C, XM_047421563.1:c.1802G>C, XM_047421534.1:c.1841G>C, XM_047421548.1:c.1841G>C, XM_047421545.1:c.1841G>C, XM_047421535.1:c.1841G>C, XM_047421552.1:c.1802G>C, XM_047421556.1:c.1841G>C, XM_047421540.1:c.1841G>C, XM_047421558.1:c.1841G>C, XM_047421541.1:c.1841G>C, XM_047421553.1:c.1802G>C, XM_047421560.1:c.1841G>C, XM_047421542.1:c.1841G>C, XM_047421559.1:c.1841G>C, XM_047421561.1:c.1841G>C, XM_047421562.1:c.1841G>C, XM_047421564.1:c.1802G>C, NP_004094.3:p.Cys614Ser, NP_775266.1:p.Cys614Ser, NP_775268.1:p.Cys614Ser, NP_775267.1:p.Cys614Ser, XP_005273504.1:p.Cys614Ser, XP_011542744.1:p.Cys601Ser, XP_016868705.1:p.Cys601Ser, XP_011542743.1:p.Cys614Ser, XP_016868703.1:p.Cys614Ser, XP_016868704.1:p.Cys601Ser, XP_047277493.1:p.Cys614Ser, XP_047277499.1:p.Cys614Ser, XP_047277488.1:p.Cys614Ser, XP_047277494.1:p.Cys614Ser, XP_047277507.1:p.Cys601Ser, XP_047277489.1:p.Cys614Ser, XP_047277502.1:p.Cys614Ser, XP_047277503.1:p.Cys614Ser, XP_047277505.1:p.Cys601Ser, XP_047277513.1:p.Cys614Ser, XP_047277500.1:p.Cys614Ser, XP_047277492.1:p.Cys614Ser, XP_047277495.1:p.Cys614Ser, XP_047277506.1:p.Cys601Ser, XP_047277511.1:p.Cys614Ser, XP_047277487.1:p.Cys614Ser, XP_047277519.1:p.Cys601Ser, XP_047277490.1:p.Cys614Ser, XP_047277504.1:p.Cys614Ser, XP_047277501.1:p.Cys614Ser, XP_047277491.1:p.Cys614Ser, XP_047277508.1:p.Cys601Ser, XP_047277512.1:p.Cys614Ser, XP_047277496.1:p.Cys614Ser, XP_047277514.1:p.Cys614Ser, XP_047277497.1:p.Cys614Ser, XP_047277509.1:p.Cys601Ser, XP_047277516.1:p.Cys614Ser, XP_047277498.1:p.Cys614Ser, XP_047277515.1:p.Cys614Ser, XP_047277517.1:p.Cys614Ser, XP_047277518.1:p.Cys614Ser, XP_047277520.1:p.Cys601Ser

            6.

            rs1484322121 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:27422313 (GRCh38)
              8:27279830 (GRCh37)
              Canonical SPDI:
              NC_000008.11:27422312:G:A
              Gene:
              PTK2B (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              A=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.27422313G>A, NC_000008.10:g.27279830G>A, NG_029510.2:g.115832G>A, NM_004103.4:c.481G>A, NM_173174.3:c.481G>A, NM_173174.2:c.481G>A, NM_173176.3:c.481G>A, NM_173176.2:c.481G>A, NM_173175.2:c.481G>A, XM_005273447.5:c.481G>A, XM_005273447.4:c.481G>A, XM_005273447.3:c.481G>A, XM_005273447.2:c.481G>A, XM_005273447.1:c.481G>A, XM_011544442.4:c.481G>A, XM_011544442.3:c.481G>A, XM_011544442.2:c.481G>A, XM_011544442.1:c.481G>A, XM_017013216.3:c.481G>A, XM_017013216.2:c.481G>A, XM_017013216.1:c.481G>A, XM_011544441.3:c.481G>A, XM_011544441.2:c.481G>A, XM_011544441.1:c.481G>A, XM_017013214.2:c.481G>A, XM_017013214.1:c.481G>A, XM_017013215.2:c.481G>A, XM_017013215.1:c.481G>A, XM_047421537.1:c.481G>A, XM_047421543.1:c.481G>A, XM_047421532.1:c.481G>A, XM_047421538.1:c.481G>A, XM_047421551.1:c.481G>A, XM_047421533.1:c.481G>A, XM_047421546.1:c.481G>A, XM_047421547.1:c.481G>A, XM_047421549.1:c.481G>A, XM_047421557.1:c.481G>A, XM_047421544.1:c.481G>A, XM_047421536.1:c.481G>A, XM_047421539.1:c.481G>A, XM_047421550.1:c.481G>A, XM_047421555.1:c.481G>A, XM_047421531.1:c.481G>A, XM_047421563.1:c.481G>A, XM_047421534.1:c.481G>A, XM_047421548.1:c.481G>A, XM_047421545.1:c.481G>A, XM_047421535.1:c.481G>A, XM_047421552.1:c.481G>A, XM_047421556.1:c.481G>A, XM_047421540.1:c.481G>A, XM_047421558.1:c.481G>A, XM_047421541.1:c.481G>A, XM_047421553.1:c.481G>A, XM_047421560.1:c.481G>A, XM_047421542.1:c.481G>A, XM_047421559.1:c.481G>A, XM_047421561.1:c.481G>A, XM_047421562.1:c.481G>A, XM_047421564.1:c.481G>A, NP_004094.3:p.Asp161Asn, NP_775266.1:p.Asp161Asn, NP_775268.1:p.Asp161Asn, NP_775267.1:p.Asp161Asn, XP_005273504.1:p.Asp161Asn, XP_011542744.1:p.Asp161Asn, XP_016868705.1:p.Asp161Asn, XP_011542743.1:p.Asp161Asn, XP_016868703.1:p.Asp161Asn, XP_016868704.1:p.Asp161Asn, XP_047277493.1:p.Asp161Asn, XP_047277499.1:p.Asp161Asn, XP_047277488.1:p.Asp161Asn, XP_047277494.1:p.Asp161Asn, XP_047277507.1:p.Asp161Asn, XP_047277489.1:p.Asp161Asn, XP_047277502.1:p.Asp161Asn, XP_047277503.1:p.Asp161Asn, XP_047277505.1:p.Asp161Asn, XP_047277513.1:p.Asp161Asn, XP_047277500.1:p.Asp161Asn, XP_047277492.1:p.Asp161Asn, XP_047277495.1:p.Asp161Asn, XP_047277506.1:p.Asp161Asn, XP_047277511.1:p.Asp161Asn, XP_047277487.1:p.Asp161Asn, XP_047277519.1:p.Asp161Asn, XP_047277490.1:p.Asp161Asn, XP_047277504.1:p.Asp161Asn, XP_047277501.1:p.Asp161Asn, XP_047277491.1:p.Asp161Asn, XP_047277508.1:p.Asp161Asn, XP_047277512.1:p.Asp161Asn, XP_047277496.1:p.Asp161Asn, XP_047277514.1:p.Asp161Asn, XP_047277497.1:p.Asp161Asn, XP_047277509.1:p.Asp161Asn, XP_047277516.1:p.Asp161Asn, XP_047277498.1:p.Asp161Asn, XP_047277515.1:p.Asp161Asn, XP_047277517.1:p.Asp161Asn, XP_047277518.1:p.Asp161Asn, XP_047277520.1:p.Asp161Asn

              7.

              rs1484291543 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                8:27431415 (GRCh38)
                8:27288932 (GRCh37)
                Canonical SPDI:
                NC_000008.11:27431414:T:C,NC_000008.11:27431414:T:G
                Gene:
                PTK2B (Varview), MIR6842 (Varview)
                Functional Consequence:
                synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                C=0.000546/1 (Korea1K)
                HGVS:
                NC_000008.11:g.27431415T>C, NC_000008.11:g.27431415T>G, NC_000008.10:g.27288932T>C, NC_000008.10:g.27288932T>G, NG_029510.2:g.124934T>C, NG_029510.2:g.124934T>G, NM_004103.4:c.828T>C, NM_004103.4:c.828T>G, NM_173174.3:c.828T>C, NM_173174.3:c.828T>G, NM_173174.2:c.828T>C, NM_173174.2:c.828T>G, NM_173176.3:c.828T>C, NM_173176.3:c.828T>G, NM_173176.2:c.828T>C, NM_173176.2:c.828T>G, NM_173175.2:c.828T>C, NM_173175.2:c.828T>G, XM_005273447.5:c.828T>C, XM_005273447.5:c.828T>G, XM_005273447.4:c.828T>C, XM_005273447.4:c.828T>G, XM_005273447.3:c.828T>C, XM_005273447.3:c.828T>G, XM_005273447.2:c.828T>C, XM_005273447.2:c.828T>G, XM_005273447.1:c.828T>C, XM_005273447.1:c.828T>G, XM_011544442.4:c.828T>C, XM_011544442.4:c.828T>G, XM_011544442.3:c.828T>C, XM_011544442.3:c.828T>G, XM_011544442.2:c.828T>C, XM_011544442.2:c.828T>G, XM_011544442.1:c.828T>C, XM_011544442.1:c.828T>G, XM_017013216.3:c.828T>C, XM_017013216.3:c.828T>G, XM_017013216.2:c.828T>C, XM_017013216.2:c.828T>G, XM_017013216.1:c.828T>C, XM_017013216.1:c.828T>G, XM_011544441.3:c.828T>C, XM_011544441.3:c.828T>G, XM_011544441.2:c.828T>C, XM_011544441.2:c.828T>G, XM_011544441.1:c.828T>C, XM_011544441.1:c.828T>G, XM_017013214.2:c.828T>C, XM_017013214.2:c.828T>G, XM_017013214.1:c.828T>C, XM_017013214.1:c.828T>G, XM_017013215.2:c.828T>C, XM_017013215.2:c.828T>G, XM_017013215.1:c.828T>C, XM_017013215.1:c.828T>G, XM_047421537.1:c.828T>C, XM_047421537.1:c.828T>G, XM_047421543.1:c.828T>C, XM_047421543.1:c.828T>G, XM_047421532.1:c.828T>C, XM_047421532.1:c.828T>G, XM_047421538.1:c.828T>C, XM_047421538.1:c.828T>G, XM_047421551.1:c.828T>C, XM_047421551.1:c.828T>G, XM_047421533.1:c.828T>C, XM_047421533.1:c.828T>G, XM_047421546.1:c.828T>C, XM_047421546.1:c.828T>G, XM_047421547.1:c.828T>C, XM_047421547.1:c.828T>G, XM_047421549.1:c.828T>C, XM_047421549.1:c.828T>G, XM_047421557.1:c.828T>C, XM_047421557.1:c.828T>G, XM_047421544.1:c.828T>C, XM_047421544.1:c.828T>G, XM_047421536.1:c.828T>C, XM_047421536.1:c.828T>G, XM_047421539.1:c.828T>C, XM_047421539.1:c.828T>G, XM_047421550.1:c.828T>C, XM_047421550.1:c.828T>G, XM_047421555.1:c.828T>C, XM_047421555.1:c.828T>G, XM_047421531.1:c.828T>C, XM_047421531.1:c.828T>G, XM_047421563.1:c.828T>C, XM_047421563.1:c.828T>G, XM_047421534.1:c.828T>C, XM_047421534.1:c.828T>G, XM_047421548.1:c.828T>C, XM_047421548.1:c.828T>G, XM_047421545.1:c.828T>C, XM_047421545.1:c.828T>G, XM_047421535.1:c.828T>C, XM_047421535.1:c.828T>G, XM_047421552.1:c.828T>C, XM_047421552.1:c.828T>G, XM_047421556.1:c.828T>C, XM_047421556.1:c.828T>G, XM_047421540.1:c.828T>C, XM_047421540.1:c.828T>G, XM_047421558.1:c.828T>C, XM_047421558.1:c.828T>G, XM_047421541.1:c.828T>C, XM_047421541.1:c.828T>G, XM_047421553.1:c.828T>C, XM_047421553.1:c.828T>G, XM_047421560.1:c.828T>C, XM_047421560.1:c.828T>G, XM_047421542.1:c.828T>C, XM_047421542.1:c.828T>G, XM_047421559.1:c.828T>C, XM_047421559.1:c.828T>G, XM_047421561.1:c.828T>C, XM_047421561.1:c.828T>G, XM_047421562.1:c.828T>C, XM_047421562.1:c.828T>G, XM_047421564.1:c.828T>C, XM_047421564.1:c.828T>G

                8.

                rs1483638053 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  8:27397605 (GRCh38)
                  8:27255122 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:27397604:C:G
                  Gene:
                  PTK2B (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.0001/1 (ALFA)
                  HGVS:
                  NC_000008.11:g.27397605C>G, NC_000008.10:g.27255122C>G, NG_029510.2:g.91124C>G, NM_004103.4:c.21C>G, NM_173174.3:c.21C>G, NM_173174.2:c.21C>G, NM_173176.3:c.21C>G, NM_173176.2:c.21C>G, NM_173175.2:c.21C>G, XM_005273447.5:c.21C>G, XM_005273447.4:c.21C>G, XM_005273447.3:c.21C>G, XM_005273447.2:c.21C>G, XM_005273447.1:c.21C>G, XM_011544442.4:c.21C>G, XM_011544442.3:c.21C>G, XM_011544442.2:c.21C>G, XM_011544442.1:c.21C>G, XM_017013216.3:c.21C>G, XM_017013216.2:c.21C>G, XM_017013216.1:c.21C>G, XM_011544441.3:c.21C>G, XM_011544441.2:c.21C>G, XM_011544441.1:c.21C>G, XM_017013214.2:c.21C>G, XM_017013214.1:c.21C>G, XM_017013215.2:c.21C>G, XM_017013215.1:c.21C>G, XM_047421537.1:c.21C>G, XM_047421543.1:c.21C>G, XM_047421532.1:c.21C>G, XM_047421538.1:c.21C>G, XM_047421551.1:c.21C>G, XM_047421533.1:c.21C>G, XM_047421546.1:c.21C>G, XM_047421547.1:c.21C>G, XM_047421549.1:c.21C>G, XM_047421557.1:c.21C>G, XM_047421544.1:c.21C>G, XM_047421536.1:c.21C>G, XM_047421539.1:c.21C>G, XM_047421550.1:c.21C>G, XM_047421555.1:c.21C>G, XM_047421531.1:c.21C>G, XM_047421563.1:c.21C>G, XM_047421534.1:c.21C>G, XM_047421548.1:c.21C>G, XM_047421545.1:c.21C>G, XM_047421535.1:c.21C>G, XM_047421552.1:c.21C>G, XM_047421556.1:c.21C>G, XM_047421540.1:c.21C>G, XM_047421558.1:c.21C>G, XM_047421541.1:c.21C>G, XM_047421553.1:c.21C>G, XM_047421560.1:c.21C>G, XM_047421542.1:c.21C>G, XM_047421559.1:c.21C>G, XM_047421561.1:c.21C>G, XM_047421562.1:c.21C>G, XM_047421564.1:c.21C>G

                  9.

                  rs1483229311 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    8:27419930 (GRCh38)
                    8:27277447 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:27419929:C:T
                    Gene:
                    PTK2B (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    T=0.000035/1 (TOMMO)
                    HGVS:
                    NC_000008.11:g.27419930C>T, NC_000008.10:g.27277447C>T, NG_029510.2:g.113449C>T, NM_004103.4:c.240C>T, NM_173174.3:c.240C>T, NM_173174.2:c.240C>T, NM_173176.3:c.240C>T, NM_173176.2:c.240C>T, NM_173175.2:c.240C>T, XM_005273447.5:c.240C>T, XM_005273447.4:c.240C>T, XM_005273447.3:c.240C>T, XM_005273447.2:c.240C>T, XM_005273447.1:c.240C>T, XM_011544442.4:c.240C>T, XM_011544442.3:c.240C>T, XM_011544442.2:c.240C>T, XM_011544442.1:c.240C>T, XM_017013216.3:c.240C>T, XM_017013216.2:c.240C>T, XM_017013216.1:c.240C>T, XM_011544441.3:c.240C>T, XM_011544441.2:c.240C>T, XM_011544441.1:c.240C>T, XM_017013214.2:c.240C>T, XM_017013214.1:c.240C>T, XM_017013215.2:c.240C>T, XM_017013215.1:c.240C>T, XM_047421537.1:c.240C>T, XM_047421543.1:c.240C>T, XM_047421532.1:c.240C>T, XM_047421538.1:c.240C>T, XM_047421551.1:c.240C>T, XM_047421533.1:c.240C>T, XM_047421546.1:c.240C>T, XM_047421547.1:c.240C>T, XM_047421549.1:c.240C>T, XM_047421557.1:c.240C>T, XM_047421544.1:c.240C>T, XM_047421536.1:c.240C>T, XM_047421539.1:c.240C>T, XM_047421550.1:c.240C>T, XM_047421555.1:c.240C>T, XM_047421531.1:c.240C>T, XM_047421563.1:c.240C>T, XM_047421534.1:c.240C>T, XM_047421548.1:c.240C>T, XM_047421545.1:c.240C>T, XM_047421535.1:c.240C>T, XM_047421552.1:c.240C>T, XM_047421556.1:c.240C>T, XM_047421540.1:c.240C>T, XM_047421558.1:c.240C>T, XM_047421541.1:c.240C>T, XM_047421553.1:c.240C>T, XM_047421560.1:c.240C>T, XM_047421542.1:c.240C>T, XM_047421559.1:c.240C>T, XM_047421561.1:c.240C>T, XM_047421562.1:c.240C>T, XM_047421564.1:c.240C>T

                    10.

                    rs1482786557 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      8:27419972 (GRCh38)
                      8:27277489 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:27419971:G:C
                      Gene:
                      PTK2B (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000008.11:g.27419972G>C, NC_000008.10:g.27277489G>C, NG_029510.2:g.113491G>C, NM_004103.4:c.282G>C, NM_173174.3:c.282G>C, NM_173174.2:c.282G>C, NM_173176.3:c.282G>C, NM_173176.2:c.282G>C, NM_173175.2:c.282G>C, XM_005273447.5:c.282G>C, XM_005273447.4:c.282G>C, XM_005273447.3:c.282G>C, XM_005273447.2:c.282G>C, XM_005273447.1:c.282G>C, XM_011544442.4:c.282G>C, XM_011544442.3:c.282G>C, XM_011544442.2:c.282G>C, XM_011544442.1:c.282G>C, XM_017013216.3:c.282G>C, XM_017013216.2:c.282G>C, XM_017013216.1:c.282G>C, XM_011544441.3:c.282G>C, XM_011544441.2:c.282G>C, XM_011544441.1:c.282G>C, XM_017013214.2:c.282G>C, XM_017013214.1:c.282G>C, XM_017013215.2:c.282G>C, XM_017013215.1:c.282G>C, XM_047421537.1:c.282G>C, XM_047421543.1:c.282G>C, XM_047421532.1:c.282G>C, XM_047421538.1:c.282G>C, XM_047421551.1:c.282G>C, XM_047421533.1:c.282G>C, XM_047421546.1:c.282G>C, XM_047421547.1:c.282G>C, XM_047421549.1:c.282G>C, XM_047421557.1:c.282G>C, XM_047421544.1:c.282G>C, XM_047421536.1:c.282G>C, XM_047421539.1:c.282G>C, XM_047421550.1:c.282G>C, XM_047421555.1:c.282G>C, XM_047421531.1:c.282G>C, XM_047421563.1:c.282G>C, XM_047421534.1:c.282G>C, XM_047421548.1:c.282G>C, XM_047421545.1:c.282G>C, XM_047421535.1:c.282G>C, XM_047421552.1:c.282G>C, XM_047421556.1:c.282G>C, XM_047421540.1:c.282G>C, XM_047421558.1:c.282G>C, XM_047421541.1:c.282G>C, XM_047421553.1:c.282G>C, XM_047421560.1:c.282G>C, XM_047421542.1:c.282G>C, XM_047421559.1:c.282G>C, XM_047421561.1:c.282G>C, XM_047421562.1:c.282G>C, XM_047421564.1:c.282G>C

                      11.

                      rs1482603478 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GCCAAGAACCTGCTCGACGCTGTGGAC>- [Show Flanks]
                        Chromosome:
                        8:27458438 (GRCh38)
                        8:27315955 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:27458428:GCTGTGGACGCCAAGAACCTGCTCGACGCTGTGGAC:GCTGTGGAC
                        Gene:
                        PTK2B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,inframe_deletion
                        Validated:
                        by frequency
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000008.11:g.27458438_27458464del, NC_000008.10:g.27315955_27315981del, NG_029510.2:g.151957_151983del, NM_004103.4:c.2959_2985del, NM_173174.3:c.2959_2985del, NM_173174.2:c.2959_2985del, NM_173176.3:c.2959_2985del, NM_173176.2:c.2959_2985del, NM_173175.2:c.2833_2859del, NG_015827.1:g.25842_25868del, XM_005273447.5:c.2959_2985del, XM_005273447.4:c.2959_2985del, XM_005273447.3:c.2959_2985del, XM_005273447.2:c.2959_2985del, XM_005273447.1:c.2959_2985del, XM_011544442.4:c.2920_2946del, XM_011544442.3:c.2920_2946del, XM_011544442.2:c.2920_2946del, XM_011544442.1:c.2920_2946del, XM_017013216.3:c.2884_2910del, XM_017013216.2:c.2884_2910del, XM_017013216.1:c.2884_2910del, XM_011544441.3:c.2959_2985del, XM_011544441.2:c.2959_2985del, XM_011544441.1:c.2959_2985del, XM_017013214.2:c.2959_2985del, XM_017013214.1:c.2959_2985del, XM_017013215.2:c.2920_2946del, XM_017013215.1:c.2920_2946del, XM_047421537.1:c.2959_2985del, XM_047421543.1:c.2959_2985del, XM_047421532.1:c.2959_2985del, XM_047421538.1:c.2959_2985del, XM_047421551.1:c.2920_2946del, XM_047421533.1:c.2959_2985del, XM_047421546.1:c.2959_2985del, XM_047421547.1:c.2923_2949del, XM_047421549.1:c.2920_2946del, XM_047421557.1:c.2833_2859del, XM_047421544.1:c.2959_2985del, XM_047421536.1:c.2959_2985del, XM_047421539.1:c.2959_2985del, XM_047421550.1:c.2920_2946del, XM_047421555.1:c.2833_2859del, XM_047421531.1:c.2959_2985del, XM_047421563.1:c.2794_2820del, XM_047421534.1:c.2959_2985del, XM_047421548.1:c.2923_2949del, XM_047421545.1:c.2959_2985del, XM_047421535.1:c.2959_2985del, XM_047421552.1:c.2920_2946del, XM_047421556.1:c.2833_2859del, XM_047421540.1:c.2959_2985del, XM_047421558.1:c.2833_2859del, XM_047421541.1:c.2959_2985del, XM_047421553.1:c.2920_2946del, XM_047421560.1:c.2833_2859del, XM_047421542.1:c.2959_2985del, XM_047421559.1:c.2833_2859del, XM_047421561.1:c.2833_2859del, XM_047421562.1:c.2797_2823del, XM_047421564.1:c.2794_2820del, NP_004094.3:p.Ala987_Asp995del, NP_775266.1:p.Ala987_Asp995del, NP_775268.1:p.Ala987_Asp995del, NP_775267.1:p.Ala945_Asp953del, XP_005273504.1:p.Ala987_Asp995del, XP_011542744.1:p.Ala974_Asp982del, XP_016868705.1:p.Ala962_Asp970del, XP_011542743.1:p.Ala987_Asp995del, XP_016868703.1:p.Ala987_Asp995del, XP_016868704.1:p.Ala974_Asp982del, XP_047277493.1:p.Ala987_Asp995del, XP_047277499.1:p.Ala987_Asp995del, XP_047277488.1:p.Ala987_Asp995del, XP_047277494.1:p.Ala987_Asp995del, XP_047277507.1:p.Ala974_Asp982del, XP_047277489.1:p.Ala987_Asp995del, XP_047277502.1:p.Ala987_Asp995del, XP_047277503.1:p.Ala975_Asp983del, XP_047277505.1:p.Ala974_Asp982del, XP_047277513.1:p.Ala945_Asp953del, XP_047277500.1:p.Ala987_Asp995del, XP_047277492.1:p.Ala987_Asp995del, XP_047277495.1:p.Ala987_Asp995del, XP_047277506.1:p.Ala974_Asp982del, XP_047277511.1:p.Ala945_Asp953del, XP_047277487.1:p.Ala987_Asp995del, XP_047277519.1:p.Ala932_Asp940del, XP_047277490.1:p.Ala987_Asp995del, XP_047277504.1:p.Ala975_Asp983del, XP_047277501.1:p.Ala987_Asp995del, XP_047277491.1:p.Ala987_Asp995del, XP_047277508.1:p.Ala974_Asp982del, XP_047277512.1:p.Ala945_Asp953del, XP_047277496.1:p.Ala987_Asp995del, XP_047277514.1:p.Ala945_Asp953del, XP_047277497.1:p.Ala987_Asp995del, XP_047277509.1:p.Ala974_Asp982del, XP_047277516.1:p.Ala945_Asp953del, XP_047277498.1:p.Ala987_Asp995del, XP_047277515.1:p.Ala945_Asp953del, XP_047277517.1:p.Ala945_Asp953del, XP_047277518.1:p.Ala933_Asp941del, XP_047277520.1:p.Ala932_Asp940del

                        12.

                        rs1482380555 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:27458766 (GRCh38)
                          8:27316283 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:27458765:G:A
                          Gene:
                          PTK2B (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          A=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000008.11:g.27458766G>A, NC_000008.10:g.27316283G>A, NG_029510.2:g.152285G>A, NM_004103.4:c.*257G>A, NM_173174.3:c.*257G>A, NM_173174.2:c.*257G>A, NM_173176.3:c.*257G>A, NM_173176.2:c.*257G>A, NM_173175.2:c.*257G>A, NG_015827.1:g.25531C>T, XM_005273447.5:c.*257G>A, XM_005273447.4:c.*257G>A, XM_005273447.3:c.*257G>A, XM_005273447.2:c.*257G>A, XM_005273447.1:c.*257G>A, XM_011544442.4:c.*257G>A, XM_011544442.3:c.*257G>A, XM_011544442.2:c.*257G>A, XM_011544442.1:c.*257G>A, XM_017013216.3:c.*257G>A, XM_017013216.2:c.*257G>A, XM_017013216.1:c.*257G>A, XM_011544441.3:c.*257G>A, XM_011544441.2:c.*257G>A, XM_011544441.1:c.*257G>A, XM_017013214.2:c.*257G>A, XM_017013214.1:c.*257G>A, XM_017013215.2:c.*257G>A, XM_017013215.1:c.*257G>A, XM_047421537.1:c.*257G>A, XM_047421543.1:c.*257G>A, XM_047421532.1:c.*257G>A, XM_047421538.1:c.*257G>A, XM_047421551.1:c.*257G>A, XM_047421533.1:c.*257G>A, XM_047421546.1:c.*257G>A, XM_047421547.1:c.*257G>A, XM_047421549.1:c.*257G>A, XM_047421557.1:c.*257G>A, XM_047421544.1:c.*257G>A, XM_047421536.1:c.*257G>A, XM_047421539.1:c.*257G>A, XM_047421550.1:c.*257G>A, XM_047421555.1:c.*257G>A, XM_047421531.1:c.*257G>A, XM_047421563.1:c.*257G>A, XM_047421534.1:c.*257G>A, XM_047421548.1:c.*257G>A, XM_047421545.1:c.*257G>A, XM_047421535.1:c.*257G>A, XM_047421552.1:c.*257G>A, XM_047421556.1:c.*257G>A, XM_047421540.1:c.*257G>A, XM_047421558.1:c.*257G>A, XM_047421541.1:c.*257G>A, XM_047421553.1:c.*257G>A, XM_047421560.1:c.*257G>A, XM_047421542.1:c.*257G>A, XM_047421559.1:c.*257G>A, XM_047421561.1:c.*257G>A, XM_047421562.1:c.*257G>A, XM_047421564.1:c.*257G>A

                          13.

                          rs1482321042 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:27432320 (GRCh38)
                            8:27289837 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:27432319:G:A
                            Gene:
                            PTK2B (Varview), MIR6842 (Varview)
                            Functional Consequence:
                            missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000008.11:g.27432320G>A, NC_000008.10:g.27289837G>A, NG_029510.2:g.125839G>A, NM_004103.4:c.946G>A, NM_173174.3:c.946G>A, NM_173174.2:c.946G>A, NM_173176.3:c.946G>A, NM_173176.2:c.946G>A, NM_173175.2:c.946G>A, XM_005273447.5:c.946G>A, XM_005273447.4:c.946G>A, XM_005273447.3:c.946G>A, XM_005273447.2:c.946G>A, XM_005273447.1:c.946G>A, XM_011544442.4:c.946G>A, XM_011544442.3:c.946G>A, XM_011544442.2:c.946G>A, XM_011544442.1:c.946G>A, XM_017013216.3:c.946G>A, XM_017013216.2:c.946G>A, XM_017013216.1:c.946G>A, XM_011544441.3:c.946G>A, XM_011544441.2:c.946G>A, XM_011544441.1:c.946G>A, XM_017013214.2:c.946G>A, XM_017013214.1:c.946G>A, XM_017013215.2:c.946G>A, XM_017013215.1:c.946G>A, XM_047421537.1:c.946G>A, XM_047421543.1:c.946G>A, XM_047421532.1:c.946G>A, XM_047421538.1:c.946G>A, XM_047421551.1:c.946G>A, XM_047421533.1:c.946G>A, XM_047421546.1:c.946G>A, XM_047421547.1:c.946G>A, XM_047421549.1:c.946G>A, XM_047421557.1:c.946G>A, XM_047421544.1:c.946G>A, XM_047421536.1:c.946G>A, XM_047421539.1:c.946G>A, XM_047421550.1:c.946G>A, XM_047421555.1:c.946G>A, XM_047421531.1:c.946G>A, XM_047421563.1:c.946G>A, XM_047421534.1:c.946G>A, XM_047421548.1:c.946G>A, XM_047421545.1:c.946G>A, XM_047421535.1:c.946G>A, XM_047421552.1:c.946G>A, XM_047421556.1:c.946G>A, XM_047421540.1:c.946G>A, XM_047421558.1:c.946G>A, XM_047421541.1:c.946G>A, XM_047421553.1:c.946G>A, XM_047421560.1:c.946G>A, XM_047421542.1:c.946G>A, XM_047421559.1:c.946G>A, XM_047421561.1:c.946G>A, XM_047421562.1:c.946G>A, XM_047421564.1:c.946G>A, NP_004094.3:p.Gly316Ser, NP_775266.1:p.Gly316Ser, NP_775268.1:p.Gly316Ser, NP_775267.1:p.Gly316Ser, XP_005273504.1:p.Gly316Ser, XP_011542744.1:p.Gly316Ser, XP_016868705.1:p.Gly316Ser, XP_011542743.1:p.Gly316Ser, XP_016868703.1:p.Gly316Ser, XP_016868704.1:p.Gly316Ser, XP_047277493.1:p.Gly316Ser, XP_047277499.1:p.Gly316Ser, XP_047277488.1:p.Gly316Ser, XP_047277494.1:p.Gly316Ser, XP_047277507.1:p.Gly316Ser, XP_047277489.1:p.Gly316Ser, XP_047277502.1:p.Gly316Ser, XP_047277503.1:p.Gly316Ser, XP_047277505.1:p.Gly316Ser, XP_047277513.1:p.Gly316Ser, XP_047277500.1:p.Gly316Ser, XP_047277492.1:p.Gly316Ser, XP_047277495.1:p.Gly316Ser, XP_047277506.1:p.Gly316Ser, XP_047277511.1:p.Gly316Ser, XP_047277487.1:p.Gly316Ser, XP_047277519.1:p.Gly316Ser, XP_047277490.1:p.Gly316Ser, XP_047277504.1:p.Gly316Ser, XP_047277501.1:p.Gly316Ser, XP_047277491.1:p.Gly316Ser, XP_047277508.1:p.Gly316Ser, XP_047277512.1:p.Gly316Ser, XP_047277496.1:p.Gly316Ser, XP_047277514.1:p.Gly316Ser, XP_047277497.1:p.Gly316Ser, XP_047277509.1:p.Gly316Ser, XP_047277516.1:p.Gly316Ser, XP_047277498.1:p.Gly316Ser, XP_047277515.1:p.Gly316Ser, XP_047277517.1:p.Gly316Ser, XP_047277518.1:p.Gly316Ser, XP_047277520.1:p.Gly316Ser

                            14.

                            rs1481506022 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              8:27459296 (GRCh38)
                              8:27316813 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:27459295:T:C
                              Gene:
                              CHRNA2 (Varview), PTK2B (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000142/2 (ALFA)
                              C=0.000014/2 (GnomAD)
                              C=0.000034/9 (TOPMED)
                              HGVS:
                              NC_000008.11:g.27459296T>C, NC_000008.10:g.27316813T>C, NG_029510.2:g.152815T>C, NM_004103.4:c.*787T>C, NM_173174.3:c.*787T>C, NM_173174.2:c.*787T>C, NM_173176.3:c.*787T>C, NM_173176.2:c.*787T>C, NM_173175.2:c.*787T>C, NG_015827.1:g.25001A>G, XM_005273447.5:c.*787T>C, XM_005273447.4:c.*787T>C, XM_005273447.3:c.*787T>C, XM_005273447.2:c.*787T>C, XM_005273447.1:c.*787T>C, XM_011544442.4:c.*787T>C, XM_011544442.3:c.*787T>C, XM_011544442.2:c.*787T>C, XM_011544442.1:c.*787T>C, XM_017013216.3:c.*787T>C, XM_017013216.2:c.*787T>C, XM_017013216.1:c.*787T>C, XM_011544441.3:c.*787T>C, XM_011544441.2:c.*787T>C, XM_011544441.1:c.*787T>C, XM_017013214.2:c.*787T>C, XM_017013214.1:c.*787T>C, XM_017013215.2:c.*787T>C, XM_017013215.1:c.*787T>C, XM_047421537.1:c.*787T>C, XM_047421543.1:c.*787T>C, XM_047421532.1:c.*787T>C, XM_047421538.1:c.*787T>C, XM_047421551.1:c.*787T>C, XM_047421533.1:c.*787T>C, XM_047421546.1:c.*787T>C, XM_047421547.1:c.*787T>C, XM_047421549.1:c.*787T>C, XM_047421557.1:c.*787T>C, XM_047421544.1:c.*787T>C, XM_047421536.1:c.*787T>C, XM_047421539.1:c.*787T>C, XM_047421550.1:c.*787T>C, XM_047421555.1:c.*787T>C, XM_047421531.1:c.*787T>C, XM_047421563.1:c.*787T>C, XM_047421534.1:c.*787T>C, XM_047421548.1:c.*787T>C, XM_047421545.1:c.*787T>C, XM_047421535.1:c.*787T>C, XM_047421552.1:c.*787T>C, XM_047421556.1:c.*787T>C, XM_047421540.1:c.*787T>C, XM_047421558.1:c.*787T>C, XM_047421541.1:c.*787T>C, XM_047421553.1:c.*787T>C, XM_047421560.1:c.*787T>C, XM_047421542.1:c.*787T>C, XM_047421559.1:c.*787T>C, XM_047421561.1:c.*787T>C, XM_047421562.1:c.*787T>C, XM_047421564.1:c.*787T>C

                              15.

                              rs1480446100 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                8:27436259 (GRCh38)
                                8:27293776 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:27436258:T:C
                                Gene:
                                PTK2B (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.27436259T>C, NC_000008.10:g.27293776T>C, NG_029510.2:g.129778T>C, NM_004103.4:c.1252T>C, NM_173174.3:c.1252T>C, NM_173174.2:c.1252T>C, NM_173176.3:c.1252T>C, NM_173176.2:c.1252T>C, NM_173175.2:c.1252T>C, XM_005273447.5:c.1252T>C, XM_005273447.4:c.1252T>C, XM_005273447.3:c.1252T>C, XM_005273447.2:c.1252T>C, XM_005273447.1:c.1252T>C, XM_011544442.4:c.1213T>C, XM_011544442.3:c.1213T>C, XM_011544442.2:c.1213T>C, XM_011544442.1:c.1213T>C, XM_017013216.3:c.1213T>C, XM_017013216.2:c.1213T>C, XM_017013216.1:c.1213T>C, XM_011544441.3:c.1252T>C, XM_011544441.2:c.1252T>C, XM_011544441.1:c.1252T>C, XM_017013214.2:c.1252T>C, XM_017013214.1:c.1252T>C, XM_017013215.2:c.1213T>C, XM_017013215.1:c.1213T>C, XM_047421537.1:c.1252T>C, XM_047421543.1:c.1252T>C, XM_047421532.1:c.1252T>C, XM_047421538.1:c.1252T>C, XM_047421551.1:c.1213T>C, XM_047421533.1:c.1252T>C, XM_047421546.1:c.1252T>C, XM_047421547.1:c.1252T>C, XM_047421549.1:c.1213T>C, XM_047421557.1:c.1252T>C, XM_047421544.1:c.1252T>C, XM_047421536.1:c.1252T>C, XM_047421539.1:c.1252T>C, XM_047421550.1:c.1213T>C, XM_047421555.1:c.1252T>C, XM_047421531.1:c.1252T>C, XM_047421563.1:c.1213T>C, XM_047421534.1:c.1252T>C, XM_047421548.1:c.1252T>C, XM_047421545.1:c.1252T>C, XM_047421535.1:c.1252T>C, XM_047421552.1:c.1213T>C, XM_047421556.1:c.1252T>C, XM_047421540.1:c.1252T>C, XM_047421558.1:c.1252T>C, XM_047421541.1:c.1252T>C, XM_047421553.1:c.1213T>C, XM_047421560.1:c.1252T>C, XM_047421542.1:c.1252T>C, XM_047421559.1:c.1252T>C, XM_047421561.1:c.1252T>C, XM_047421562.1:c.1252T>C, XM_047421564.1:c.1213T>C, NP_004094.3:p.Tyr418His, NP_775266.1:p.Tyr418His, NP_775268.1:p.Tyr418His, NP_775267.1:p.Tyr418His, XP_005273504.1:p.Tyr418His, XP_011542744.1:p.Tyr405His, XP_016868705.1:p.Tyr405His, XP_011542743.1:p.Tyr418His, XP_016868703.1:p.Tyr418His, XP_016868704.1:p.Tyr405His, XP_047277493.1:p.Tyr418His, XP_047277499.1:p.Tyr418His, XP_047277488.1:p.Tyr418His, XP_047277494.1:p.Tyr418His, XP_047277507.1:p.Tyr405His, XP_047277489.1:p.Tyr418His, XP_047277502.1:p.Tyr418His, XP_047277503.1:p.Tyr418His, XP_047277505.1:p.Tyr405His, XP_047277513.1:p.Tyr418His, XP_047277500.1:p.Tyr418His, XP_047277492.1:p.Tyr418His, XP_047277495.1:p.Tyr418His, XP_047277506.1:p.Tyr405His, XP_047277511.1:p.Tyr418His, XP_047277487.1:p.Tyr418His, XP_047277519.1:p.Tyr405His, XP_047277490.1:p.Tyr418His, XP_047277504.1:p.Tyr418His, XP_047277501.1:p.Tyr418His, XP_047277491.1:p.Tyr418His, XP_047277508.1:p.Tyr405His, XP_047277512.1:p.Tyr418His, XP_047277496.1:p.Tyr418His, XP_047277514.1:p.Tyr418His, XP_047277497.1:p.Tyr418His, XP_047277509.1:p.Tyr405His, XP_047277516.1:p.Tyr418His, XP_047277498.1:p.Tyr418His, XP_047277515.1:p.Tyr418His, XP_047277517.1:p.Tyr418His, XP_047277518.1:p.Tyr418His, XP_047277520.1:p.Tyr405His

                                16.

                                rs1480434200 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  8:27322492 (GRCh38)
                                  8:27180009 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:27322491:T:C
                                  Gene:
                                  PTK2B (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  NC_000008.11:g.27322492T>C, NC_000008.10:g.27180009T>C, NG_029510.2:g.16011T>C, NM_004103.4:c.-163T>C, NM_173174.3:c.-323T>C, NM_173174.2:c.-323T>C, XM_011544442.4:c.-163T>C, XM_017013216.3:c.-163T>C, XM_047421537.1:c.-615T>C, XM_047421543.1:c.-323T>C, XM_047421532.1:c.-323T>C, XM_047421538.1:c.-455T>C, XM_047421551.1:c.-455T>C, XM_047421533.1:c.-323T>C, XM_047421546.1:c.-323T>C, XM_047421547.1:c.-323T>C, XM_047421549.1:c.-323T>C, XM_047421557.1:c.-323T>C, XM_047421544.1:c.-323T>C, XM_047421536.1:c.-323T>C, XM_047421539.1:c.-163T>C, XM_047421550.1:c.-323T>C, XM_047421555.1:c.-323T>C, XM_047421531.1:c.-163T>C, XM_047421563.1:c.-323T>C, XM_047421534.1:c.-323T>C, XM_047421548.1:c.-163T>C, XM_047421545.1:c.-163T>C, XM_047421535.1:c.-163T>C, XM_047421552.1:c.-163T>C, XM_047421556.1:c.-163T>C, XM_047421540.1:c.-163T>C, XM_047421558.1:c.-163T>C

                                  17.

                                  rs1480313950 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    8:27397606 (GRCh38)
                                    8:27255123 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:27397605:C:T
                                    Gene:
                                    PTK2B (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_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_000008.11:g.27397606C>T, NC_000008.10:g.27255123C>T, NG_029510.2:g.91125C>T, NM_004103.4:c.22C>T, NM_173174.3:c.22C>T, NM_173174.2:c.22C>T, NM_173176.3:c.22C>T, NM_173176.2:c.22C>T, NM_173175.2:c.22C>T, XM_005273447.5:c.22C>T, XM_005273447.4:c.22C>T, XM_005273447.3:c.22C>T, XM_005273447.2:c.22C>T, XM_005273447.1:c.22C>T, XM_011544442.4:c.22C>T, XM_011544442.3:c.22C>T, XM_011544442.2:c.22C>T, XM_011544442.1:c.22C>T, XM_017013216.3:c.22C>T, XM_017013216.2:c.22C>T, XM_017013216.1:c.22C>T, XM_011544441.3:c.22C>T, XM_011544441.2:c.22C>T, XM_011544441.1:c.22C>T, XM_017013214.2:c.22C>T, XM_017013214.1:c.22C>T, XM_017013215.2:c.22C>T, XM_017013215.1:c.22C>T, XM_047421537.1:c.22C>T, XM_047421543.1:c.22C>T, XM_047421532.1:c.22C>T, XM_047421538.1:c.22C>T, XM_047421551.1:c.22C>T, XM_047421533.1:c.22C>T, XM_047421546.1:c.22C>T, XM_047421547.1:c.22C>T, XM_047421549.1:c.22C>T, XM_047421557.1:c.22C>T, XM_047421544.1:c.22C>T, XM_047421536.1:c.22C>T, XM_047421539.1:c.22C>T, XM_047421550.1:c.22C>T, XM_047421555.1:c.22C>T, XM_047421531.1:c.22C>T, XM_047421563.1:c.22C>T, XM_047421534.1:c.22C>T, XM_047421548.1:c.22C>T, XM_047421545.1:c.22C>T, XM_047421535.1:c.22C>T, XM_047421552.1:c.22C>T, XM_047421556.1:c.22C>T, XM_047421540.1:c.22C>T, XM_047421558.1:c.22C>T, XM_047421541.1:c.22C>T, XM_047421553.1:c.22C>T, XM_047421560.1:c.22C>T, XM_047421542.1:c.22C>T, XM_047421559.1:c.22C>T, XM_047421561.1:c.22C>T, XM_047421562.1:c.22C>T, XM_047421564.1:c.22C>T

                                    18.

                                    rs1477757324 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      8:27458813 (GRCh38)
                                      8:27316330 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:27458812:G:A,NC_000008.11:27458812:G:T
                                      Gene:
                                      PTK2B (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000008.11:g.27458813G>A, NC_000008.11:g.27458813G>T, NC_000008.10:g.27316330G>A, NC_000008.10:g.27316330G>T, NG_029510.2:g.152332G>A, NG_029510.2:g.152332G>T, NM_004103.4:c.*304G>A, NM_004103.4:c.*304G>T, NM_173174.3:c.*304G>A, NM_173174.3:c.*304G>T, NM_173174.2:c.*304G>A, NM_173174.2:c.*304G>T, NM_173176.3:c.*304G>A, NM_173176.3:c.*304G>T, NM_173176.2:c.*304G>A, NM_173176.2:c.*304G>T, NM_173175.2:c.*304G>A, NM_173175.2:c.*304G>T, NG_015827.1:g.25484C>T, NG_015827.1:g.25484C>A, XM_005273447.5:c.*304G>A, XM_005273447.5:c.*304G>T, XM_005273447.4:c.*304G>A, XM_005273447.4:c.*304G>T, XM_005273447.3:c.*304G>A, XM_005273447.3:c.*304G>T, XM_005273447.2:c.*304G>A, XM_005273447.2:c.*304G>T, XM_005273447.1:c.*304G>A, XM_005273447.1:c.*304G>T, XM_011544442.4:c.*304G>A, XM_011544442.4:c.*304G>T, XM_011544442.3:c.*304G>A, XM_011544442.3:c.*304G>T, XM_011544442.2:c.*304G>A, XM_011544442.2:c.*304G>T, XM_011544442.1:c.*304G>A, XM_011544442.1:c.*304G>T, XM_017013216.3:c.*304G>A, XM_017013216.3:c.*304G>T, XM_017013216.2:c.*304G>A, XM_017013216.2:c.*304G>T, XM_017013216.1:c.*304G>A, XM_017013216.1:c.*304G>T, XM_011544441.3:c.*304G>A, XM_011544441.3:c.*304G>T, XM_011544441.2:c.*304G>A, XM_011544441.2:c.*304G>T, XM_011544441.1:c.*304G>A, XM_011544441.1:c.*304G>T, XM_017013214.2:c.*304G>A, XM_017013214.2:c.*304G>T, XM_017013214.1:c.*304G>A, XM_017013214.1:c.*304G>T, XM_017013215.2:c.*304G>A, XM_017013215.2:c.*304G>T, XM_017013215.1:c.*304G>A, XM_017013215.1:c.*304G>T, XM_047421537.1:c.*304G>A, XM_047421537.1:c.*304G>T, XM_047421543.1:c.*304G>A, XM_047421543.1:c.*304G>T, XM_047421532.1:c.*304G>A, XM_047421532.1:c.*304G>T, XM_047421538.1:c.*304G>A, XM_047421538.1:c.*304G>T, XM_047421551.1:c.*304G>A, XM_047421551.1:c.*304G>T, XM_047421533.1:c.*304G>A, XM_047421533.1:c.*304G>T, XM_047421546.1:c.*304G>A, XM_047421546.1:c.*304G>T, XM_047421547.1:c.*304G>A, XM_047421547.1:c.*304G>T, XM_047421549.1:c.*304G>A, XM_047421549.1:c.*304G>T, XM_047421557.1:c.*304G>A, XM_047421557.1:c.*304G>T, XM_047421544.1:c.*304G>A, XM_047421544.1:c.*304G>T, XM_047421536.1:c.*304G>A, XM_047421536.1:c.*304G>T, XM_047421539.1:c.*304G>A, XM_047421539.1:c.*304G>T, XM_047421550.1:c.*304G>A, XM_047421550.1:c.*304G>T, XM_047421555.1:c.*304G>A, XM_047421555.1:c.*304G>T, XM_047421531.1:c.*304G>A, XM_047421531.1:c.*304G>T, XM_047421563.1:c.*304G>A, XM_047421563.1:c.*304G>T, XM_047421534.1:c.*304G>A, XM_047421534.1:c.*304G>T, XM_047421548.1:c.*304G>A, XM_047421548.1:c.*304G>T, XM_047421545.1:c.*304G>A, XM_047421545.1:c.*304G>T, XM_047421535.1:c.*304G>A, XM_047421535.1:c.*304G>T, XM_047421552.1:c.*304G>A, XM_047421552.1:c.*304G>T, XM_047421556.1:c.*304G>A, XM_047421556.1:c.*304G>T, XM_047421540.1:c.*304G>A, XM_047421540.1:c.*304G>T, XM_047421558.1:c.*304G>A, XM_047421558.1:c.*304G>T, XM_047421541.1:c.*304G>A, XM_047421541.1:c.*304G>T, XM_047421553.1:c.*304G>A, XM_047421553.1:c.*304G>T, XM_047421560.1:c.*304G>A, XM_047421560.1:c.*304G>T, XM_047421542.1:c.*304G>A, XM_047421542.1:c.*304G>T, XM_047421559.1:c.*304G>A, XM_047421559.1:c.*304G>T, XM_047421561.1:c.*304G>A, XM_047421561.1:c.*304G>T, XM_047421562.1:c.*304G>A, XM_047421562.1:c.*304G>T, XM_047421564.1:c.*304G>A, XM_047421564.1:c.*304G>T

                                      19.

                                      rs1477093134 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:27458938 (GRCh38)
                                        8:27316455 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:27458937:G:A
                                        Gene:
                                        PTK2B (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000008.11:g.27458938G>A, NC_000008.10:g.27316455G>A, NG_029510.2:g.152457G>A, NM_004103.4:c.*429G>A, NM_173174.3:c.*429G>A, NM_173174.2:c.*429G>A, NM_173176.3:c.*429G>A, NM_173176.2:c.*429G>A, NM_173175.2:c.*429G>A, NG_015827.1:g.25359C>T, XM_005273447.5:c.*429G>A, XM_005273447.4:c.*429G>A, XM_005273447.3:c.*429G>A, XM_005273447.2:c.*429G>A, XM_005273447.1:c.*429G>A, XM_011544442.4:c.*429G>A, XM_011544442.3:c.*429G>A, XM_011544442.2:c.*429G>A, XM_011544442.1:c.*429G>A, XM_017013216.3:c.*429G>A, XM_017013216.2:c.*429G>A, XM_017013216.1:c.*429G>A, XM_011544441.3:c.*429G>A, XM_011544441.2:c.*429G>A, XM_011544441.1:c.*429G>A, XM_017013214.2:c.*429G>A, XM_017013214.1:c.*429G>A, XM_017013215.2:c.*429G>A, XM_017013215.1:c.*429G>A, XM_047421537.1:c.*429G>A, XM_047421543.1:c.*429G>A, XM_047421532.1:c.*429G>A, XM_047421538.1:c.*429G>A, XM_047421551.1:c.*429G>A, XM_047421533.1:c.*429G>A, XM_047421546.1:c.*429G>A, XM_047421547.1:c.*429G>A, XM_047421549.1:c.*429G>A, XM_047421557.1:c.*429G>A, XM_047421544.1:c.*429G>A, XM_047421536.1:c.*429G>A, XM_047421539.1:c.*429G>A, XM_047421550.1:c.*429G>A, XM_047421555.1:c.*429G>A, XM_047421531.1:c.*429G>A, XM_047421563.1:c.*429G>A, XM_047421534.1:c.*429G>A, XM_047421548.1:c.*429G>A, XM_047421545.1:c.*429G>A, XM_047421535.1:c.*429G>A, XM_047421552.1:c.*429G>A, XM_047421556.1:c.*429G>A, XM_047421540.1:c.*429G>A, XM_047421558.1:c.*429G>A, XM_047421541.1:c.*429G>A, XM_047421553.1:c.*429G>A, XM_047421560.1:c.*429G>A, XM_047421542.1:c.*429G>A, XM_047421559.1:c.*429G>A, XM_047421561.1:c.*429G>A, XM_047421562.1:c.*429G>A, XM_047421564.1:c.*429G>A

                                        20.

                                        rs1476167823 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          8:27322473 (GRCh38)
                                          8:27179990 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:27322472:G:A
                                          Gene:
                                          PTK2B (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000066/1 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          A=0.000223/1 (Estonian)
                                          HGVS:
                                          NC_000008.11:g.27322473G>A, NC_000008.10:g.27179990G>A, NG_029510.2:g.15992G>A, NM_004103.4:c.-182G>A, NM_173174.3:c.-342G>A, NM_173174.2:c.-342G>A, XM_011544442.4:c.-182G>A, XM_017013216.3:c.-182G>A, XM_047421537.1:c.-634G>A, XM_047421543.1:c.-342G>A, XM_047421532.1:c.-342G>A, XM_047421538.1:c.-474G>A, XM_047421551.1:c.-474G>A, XM_047421533.1:c.-342G>A, XM_047421546.1:c.-342G>A, XM_047421547.1:c.-342G>A, XM_047421549.1:c.-342G>A, XM_047421557.1:c.-342G>A, XM_047421544.1:c.-342G>A, XM_047421536.1:c.-342G>A, XM_047421539.1:c.-182G>A, XM_047421550.1:c.-342G>A, XM_047421555.1:c.-342G>A, XM_047421531.1:c.-182G>A, XM_047421563.1:c.-342G>A, XM_047421534.1:c.-342G>A, XM_047421548.1:c.-182G>A, XM_047421545.1:c.-182G>A, XM_047421535.1:c.-182G>A, XM_047421552.1:c.-182G>A, XM_047421556.1:c.-182G>A, XM_047421540.1:c.-182G>A, XM_047421558.1:c.-182G>A

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