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Items: 1 to 20 of 969

1.

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

    2.

    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

      3.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      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

                        12.

                        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

                          13.

                          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

                            14.

                            rs1475915683 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              8:27437401 (GRCh38)
                              8:27294918 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:27437400:A:G
                              Gene:
                              PTK2B (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.27437401A>G, NC_000008.10:g.27294918A>G, NG_029510.2:g.130920A>G, NM_004103.4:c.1432A>G, NM_173174.3:c.1432A>G, NM_173174.2:c.1432A>G, NM_173176.3:c.1432A>G, NM_173176.2:c.1432A>G, NM_173175.2:c.1432A>G, XM_005273447.5:c.1432A>G, XM_005273447.4:c.1432A>G, XM_005273447.3:c.1432A>G, XM_005273447.2:c.1432A>G, XM_005273447.1:c.1432A>G, XM_011544442.4:c.1393A>G, XM_011544442.3:c.1393A>G, XM_011544442.2:c.1393A>G, XM_011544442.1:c.1393A>G, XM_017013216.3:c.1393A>G, XM_017013216.2:c.1393A>G, XM_017013216.1:c.1393A>G, XM_011544441.3:c.1432A>G, XM_011544441.2:c.1432A>G, XM_011544441.1:c.1432A>G, XM_017013214.2:c.1432A>G, XM_017013214.1:c.1432A>G, XM_017013215.2:c.1393A>G, XM_017013215.1:c.1393A>G, XM_047421537.1:c.1432A>G, XM_047421543.1:c.1432A>G, XM_047421532.1:c.1432A>G, XM_047421538.1:c.1432A>G, XM_047421551.1:c.1393A>G, XM_047421533.1:c.1432A>G, XM_047421546.1:c.1432A>G, XM_047421547.1:c.1432A>G, XM_047421549.1:c.1393A>G, XM_047421557.1:c.1432A>G, XM_047421544.1:c.1432A>G, XM_047421536.1:c.1432A>G, XM_047421539.1:c.1432A>G, XM_047421550.1:c.1393A>G, XM_047421555.1:c.1432A>G, XM_047421531.1:c.1432A>G, XM_047421563.1:c.1393A>G, XM_047421534.1:c.1432A>G, XM_047421548.1:c.1432A>G, XM_047421545.1:c.1432A>G, XM_047421535.1:c.1432A>G, XM_047421552.1:c.1393A>G, XM_047421556.1:c.1432A>G, XM_047421540.1:c.1432A>G, XM_047421558.1:c.1432A>G, XM_047421541.1:c.1432A>G, XM_047421553.1:c.1393A>G, XM_047421560.1:c.1432A>G, XM_047421542.1:c.1432A>G, XM_047421559.1:c.1432A>G, XM_047421561.1:c.1432A>G, XM_047421562.1:c.1432A>G, XM_047421564.1:c.1393A>G, NP_004094.3:p.Met478Val, NP_775266.1:p.Met478Val, NP_775268.1:p.Met478Val, NP_775267.1:p.Met478Val, XP_005273504.1:p.Met478Val, XP_011542744.1:p.Met465Val, XP_016868705.1:p.Met465Val, XP_011542743.1:p.Met478Val, XP_016868703.1:p.Met478Val, XP_016868704.1:p.Met465Val, XP_047277493.1:p.Met478Val, XP_047277499.1:p.Met478Val, XP_047277488.1:p.Met478Val, XP_047277494.1:p.Met478Val, XP_047277507.1:p.Met465Val, XP_047277489.1:p.Met478Val, XP_047277502.1:p.Met478Val, XP_047277503.1:p.Met478Val, XP_047277505.1:p.Met465Val, XP_047277513.1:p.Met478Val, XP_047277500.1:p.Met478Val, XP_047277492.1:p.Met478Val, XP_047277495.1:p.Met478Val, XP_047277506.1:p.Met465Val, XP_047277511.1:p.Met478Val, XP_047277487.1:p.Met478Val, XP_047277519.1:p.Met465Val, XP_047277490.1:p.Met478Val, XP_047277504.1:p.Met478Val, XP_047277501.1:p.Met478Val, XP_047277491.1:p.Met478Val, XP_047277508.1:p.Met465Val, XP_047277512.1:p.Met478Val, XP_047277496.1:p.Met478Val, XP_047277514.1:p.Met478Val, XP_047277497.1:p.Met478Val, XP_047277509.1:p.Met465Val, XP_047277516.1:p.Met478Val, XP_047277498.1:p.Met478Val, XP_047277515.1:p.Met478Val, XP_047277517.1:p.Met478Val, XP_047277518.1:p.Met478Val, XP_047277520.1:p.Met465Val

                              15.

                              rs1474015950 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                8:27397612 (GRCh38)
                                8:27255129 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:27397611:C:T
                                Gene:
                                PTK2B (Varview)
                                Functional Consequence:
                                stop_gained,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.27397612C>T, NC_000008.10:g.27255129C>T, NG_029510.2:g.91131C>T, NM_004103.4:c.28C>T, NM_173174.3:c.28C>T, NM_173174.2:c.28C>T, NM_173176.3:c.28C>T, NM_173176.2:c.28C>T, NM_173175.2:c.28C>T, XM_005273447.5:c.28C>T, XM_005273447.4:c.28C>T, XM_005273447.3:c.28C>T, XM_005273447.2:c.28C>T, XM_005273447.1:c.28C>T, XM_011544442.4:c.28C>T, XM_011544442.3:c.28C>T, XM_011544442.2:c.28C>T, XM_011544442.1:c.28C>T, XM_017013216.3:c.28C>T, XM_017013216.2:c.28C>T, XM_017013216.1:c.28C>T, XM_011544441.3:c.28C>T, XM_011544441.2:c.28C>T, XM_011544441.1:c.28C>T, XM_017013214.2:c.28C>T, XM_017013214.1:c.28C>T, XM_017013215.2:c.28C>T, XM_017013215.1:c.28C>T, XM_047421537.1:c.28C>T, XM_047421543.1:c.28C>T, XM_047421532.1:c.28C>T, XM_047421538.1:c.28C>T, XM_047421551.1:c.28C>T, XM_047421533.1:c.28C>T, XM_047421546.1:c.28C>T, XM_047421547.1:c.28C>T, XM_047421549.1:c.28C>T, XM_047421557.1:c.28C>T, XM_047421544.1:c.28C>T, XM_047421536.1:c.28C>T, XM_047421539.1:c.28C>T, XM_047421550.1:c.28C>T, XM_047421555.1:c.28C>T, XM_047421531.1:c.28C>T, XM_047421563.1:c.28C>T, XM_047421534.1:c.28C>T, XM_047421548.1:c.28C>T, XM_047421545.1:c.28C>T, XM_047421535.1:c.28C>T, XM_047421552.1:c.28C>T, XM_047421556.1:c.28C>T, XM_047421540.1:c.28C>T, XM_047421558.1:c.28C>T, XM_047421541.1:c.28C>T, XM_047421553.1:c.28C>T, XM_047421560.1:c.28C>T, XM_047421542.1:c.28C>T, XM_047421559.1:c.28C>T, XM_047421561.1:c.28C>T, XM_047421562.1:c.28C>T, XM_047421564.1:c.28C>T, NP_004094.3:p.Arg10Ter, NP_775266.1:p.Arg10Ter, NP_775268.1:p.Arg10Ter, NP_775267.1:p.Arg10Ter, XP_005273504.1:p.Arg10Ter, XP_011542744.1:p.Arg10Ter, XP_016868705.1:p.Arg10Ter, XP_011542743.1:p.Arg10Ter, XP_016868703.1:p.Arg10Ter, XP_016868704.1:p.Arg10Ter, XP_047277493.1:p.Arg10Ter, XP_047277499.1:p.Arg10Ter, XP_047277488.1:p.Arg10Ter, XP_047277494.1:p.Arg10Ter, XP_047277507.1:p.Arg10Ter, XP_047277489.1:p.Arg10Ter, XP_047277502.1:p.Arg10Ter, XP_047277503.1:p.Arg10Ter, XP_047277505.1:p.Arg10Ter, XP_047277513.1:p.Arg10Ter, XP_047277500.1:p.Arg10Ter, XP_047277492.1:p.Arg10Ter, XP_047277495.1:p.Arg10Ter, XP_047277506.1:p.Arg10Ter, XP_047277511.1:p.Arg10Ter, XP_047277487.1:p.Arg10Ter, XP_047277519.1:p.Arg10Ter, XP_047277490.1:p.Arg10Ter, XP_047277504.1:p.Arg10Ter, XP_047277501.1:p.Arg10Ter, XP_047277491.1:p.Arg10Ter, XP_047277508.1:p.Arg10Ter, XP_047277512.1:p.Arg10Ter, XP_047277496.1:p.Arg10Ter, XP_047277514.1:p.Arg10Ter, XP_047277497.1:p.Arg10Ter, XP_047277509.1:p.Arg10Ter, XP_047277516.1:p.Arg10Ter, XP_047277498.1:p.Arg10Ter, XP_047277515.1:p.Arg10Ter, XP_047277517.1:p.Arg10Ter, XP_047277518.1:p.Arg10Ter, XP_047277520.1:p.Arg10Ter

                                16.

                                rs1472455315 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:27420659 (GRCh38)
                                  8:27278176 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:27420658:A:G
                                  Gene:
                                  PTK2B (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.27420659A>G, NC_000008.10:g.27278176A>G, NG_029510.2:g.114178A>G, NM_004103.4:c.386A>G, NM_173174.3:c.386A>G, NM_173174.2:c.386A>G, NM_173176.3:c.386A>G, NM_173176.2:c.386A>G, NM_173175.2:c.386A>G, XM_005273447.5:c.386A>G, XM_005273447.4:c.386A>G, XM_005273447.3:c.386A>G, XM_005273447.2:c.386A>G, XM_005273447.1:c.386A>G, XM_011544442.4:c.386A>G, XM_011544442.3:c.386A>G, XM_011544442.2:c.386A>G, XM_011544442.1:c.386A>G, XM_017013216.3:c.386A>G, XM_017013216.2:c.386A>G, XM_017013216.1:c.386A>G, XM_011544441.3:c.386A>G, XM_011544441.2:c.386A>G, XM_011544441.1:c.386A>G, XM_017013214.2:c.386A>G, XM_017013214.1:c.386A>G, XM_017013215.2:c.386A>G, XM_017013215.1:c.386A>G, XM_047421537.1:c.386A>G, XM_047421543.1:c.386A>G, XM_047421532.1:c.386A>G, XM_047421538.1:c.386A>G, XM_047421551.1:c.386A>G, XM_047421533.1:c.386A>G, XM_047421546.1:c.386A>G, XM_047421547.1:c.386A>G, XM_047421549.1:c.386A>G, XM_047421557.1:c.386A>G, XM_047421544.1:c.386A>G, XM_047421536.1:c.386A>G, XM_047421539.1:c.386A>G, XM_047421550.1:c.386A>G, XM_047421555.1:c.386A>G, XM_047421531.1:c.386A>G, XM_047421563.1:c.386A>G, XM_047421534.1:c.386A>G, XM_047421548.1:c.386A>G, XM_047421545.1:c.386A>G, XM_047421535.1:c.386A>G, XM_047421552.1:c.386A>G, XM_047421556.1:c.386A>G, XM_047421540.1:c.386A>G, XM_047421558.1:c.386A>G, XM_047421541.1:c.386A>G, XM_047421553.1:c.386A>G, XM_047421560.1:c.386A>G, XM_047421542.1:c.386A>G, XM_047421559.1:c.386A>G, XM_047421561.1:c.386A>G, XM_047421562.1:c.386A>G, XM_047421564.1:c.386A>G, NP_004094.3:p.Tyr129Cys, NP_775266.1:p.Tyr129Cys, NP_775268.1:p.Tyr129Cys, NP_775267.1:p.Tyr129Cys, XP_005273504.1:p.Tyr129Cys, XP_011542744.1:p.Tyr129Cys, XP_016868705.1:p.Tyr129Cys, XP_011542743.1:p.Tyr129Cys, XP_016868703.1:p.Tyr129Cys, XP_016868704.1:p.Tyr129Cys, XP_047277493.1:p.Tyr129Cys, XP_047277499.1:p.Tyr129Cys, XP_047277488.1:p.Tyr129Cys, XP_047277494.1:p.Tyr129Cys, XP_047277507.1:p.Tyr129Cys, XP_047277489.1:p.Tyr129Cys, XP_047277502.1:p.Tyr129Cys, XP_047277503.1:p.Tyr129Cys, XP_047277505.1:p.Tyr129Cys, XP_047277513.1:p.Tyr129Cys, XP_047277500.1:p.Tyr129Cys, XP_047277492.1:p.Tyr129Cys, XP_047277495.1:p.Tyr129Cys, XP_047277506.1:p.Tyr129Cys, XP_047277511.1:p.Tyr129Cys, XP_047277487.1:p.Tyr129Cys, XP_047277519.1:p.Tyr129Cys, XP_047277490.1:p.Tyr129Cys, XP_047277504.1:p.Tyr129Cys, XP_047277501.1:p.Tyr129Cys, XP_047277491.1:p.Tyr129Cys, XP_047277508.1:p.Tyr129Cys, XP_047277512.1:p.Tyr129Cys, XP_047277496.1:p.Tyr129Cys, XP_047277514.1:p.Tyr129Cys, XP_047277497.1:p.Tyr129Cys, XP_047277509.1:p.Tyr129Cys, XP_047277516.1:p.Tyr129Cys, XP_047277498.1:p.Tyr129Cys, XP_047277515.1:p.Tyr129Cys, XP_047277517.1:p.Tyr129Cys, XP_047277518.1:p.Tyr129Cys, XP_047277520.1:p.Tyr129Cys

                                  17.

                                  rs1472199674 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    8:27432263 (GRCh38)
                                    8:27289780 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:27432262:A:C,NC_000008.11:27432262:A:G
                                    Gene:
                                    PTK2B (Varview), MIR6842 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000008/2 (GnomAD_exomes)
                                    C=0.003275/6 (Korea1K)
                                    HGVS:
                                    NC_000008.11:g.27432263A>C, NC_000008.11:g.27432263A>G, NC_000008.10:g.27289780A>C, NC_000008.10:g.27289780A>G, NG_029510.2:g.125782A>C, NG_029510.2:g.125782A>G, NM_004103.4:c.889A>C, NM_004103.4:c.889A>G, NM_173174.3:c.889A>C, NM_173174.3:c.889A>G, NM_173174.2:c.889A>C, NM_173174.2:c.889A>G, NM_173176.3:c.889A>C, NM_173176.3:c.889A>G, NM_173176.2:c.889A>C, NM_173176.2:c.889A>G, NM_173175.2:c.889A>C, NM_173175.2:c.889A>G, XM_005273447.5:c.889A>C, XM_005273447.5:c.889A>G, XM_005273447.4:c.889A>C, XM_005273447.4:c.889A>G, XM_005273447.3:c.889A>C, XM_005273447.3:c.889A>G, XM_005273447.2:c.889A>C, XM_005273447.2:c.889A>G, XM_005273447.1:c.889A>C, XM_005273447.1:c.889A>G, XM_011544442.4:c.889A>C, XM_011544442.4:c.889A>G, XM_011544442.3:c.889A>C, XM_011544442.3:c.889A>G, XM_011544442.2:c.889A>C, XM_011544442.2:c.889A>G, XM_011544442.1:c.889A>C, XM_011544442.1:c.889A>G, XM_017013216.3:c.889A>C, XM_017013216.3:c.889A>G, XM_017013216.2:c.889A>C, XM_017013216.2:c.889A>G, XM_017013216.1:c.889A>C, XM_017013216.1:c.889A>G, XM_011544441.3:c.889A>C, XM_011544441.3:c.889A>G, XM_011544441.2:c.889A>C, XM_011544441.2:c.889A>G, XM_011544441.1:c.889A>C, XM_011544441.1:c.889A>G, XM_017013214.2:c.889A>C, XM_017013214.2:c.889A>G, XM_017013214.1:c.889A>C, XM_017013214.1:c.889A>G, XM_017013215.2:c.889A>C, XM_017013215.2:c.889A>G, XM_017013215.1:c.889A>C, XM_017013215.1:c.889A>G, XM_047421537.1:c.889A>C, XM_047421537.1:c.889A>G, XM_047421543.1:c.889A>C, XM_047421543.1:c.889A>G, XM_047421532.1:c.889A>C, XM_047421532.1:c.889A>G, XM_047421538.1:c.889A>C, XM_047421538.1:c.889A>G, XM_047421551.1:c.889A>C, XM_047421551.1:c.889A>G, XM_047421533.1:c.889A>C, XM_047421533.1:c.889A>G, XM_047421546.1:c.889A>C, XM_047421546.1:c.889A>G, XM_047421547.1:c.889A>C, XM_047421547.1:c.889A>G, XM_047421549.1:c.889A>C, XM_047421549.1:c.889A>G, XM_047421557.1:c.889A>C, XM_047421557.1:c.889A>G, XM_047421544.1:c.889A>C, XM_047421544.1:c.889A>G, XM_047421536.1:c.889A>C, XM_047421536.1:c.889A>G, XM_047421539.1:c.889A>C, XM_047421539.1:c.889A>G, XM_047421550.1:c.889A>C, XM_047421550.1:c.889A>G, XM_047421555.1:c.889A>C, XM_047421555.1:c.889A>G, XM_047421531.1:c.889A>C, XM_047421531.1:c.889A>G, XM_047421563.1:c.889A>C, XM_047421563.1:c.889A>G, XM_047421534.1:c.889A>C, XM_047421534.1:c.889A>G, XM_047421548.1:c.889A>C, XM_047421548.1:c.889A>G, XM_047421545.1:c.889A>C, XM_047421545.1:c.889A>G, XM_047421535.1:c.889A>C, XM_047421535.1:c.889A>G, XM_047421552.1:c.889A>C, XM_047421552.1:c.889A>G, XM_047421556.1:c.889A>C, XM_047421556.1:c.889A>G, XM_047421540.1:c.889A>C, XM_047421540.1:c.889A>G, XM_047421558.1:c.889A>C, XM_047421558.1:c.889A>G, XM_047421541.1:c.889A>C, XM_047421541.1:c.889A>G, XM_047421553.1:c.889A>C, XM_047421553.1:c.889A>G, XM_047421560.1:c.889A>C, XM_047421560.1:c.889A>G, XM_047421542.1:c.889A>C, XM_047421542.1:c.889A>G, XM_047421559.1:c.889A>C, XM_047421559.1:c.889A>G, XM_047421561.1:c.889A>C, XM_047421561.1:c.889A>G, XM_047421562.1:c.889A>C, XM_047421562.1:c.889A>G, XM_047421564.1:c.889A>C, XM_047421564.1:c.889A>G, NP_004094.3:p.Thr297Pro, NP_004094.3:p.Thr297Ala, NP_775266.1:p.Thr297Pro, NP_775266.1:p.Thr297Ala, NP_775268.1:p.Thr297Pro, NP_775268.1:p.Thr297Ala, NP_775267.1:p.Thr297Pro, NP_775267.1:p.Thr297Ala, XP_005273504.1:p.Thr297Pro, XP_005273504.1:p.Thr297Ala, XP_011542744.1:p.Thr297Pro, XP_011542744.1:p.Thr297Ala, XP_016868705.1:p.Thr297Pro, XP_016868705.1:p.Thr297Ala, XP_011542743.1:p.Thr297Pro, XP_011542743.1:p.Thr297Ala, XP_016868703.1:p.Thr297Pro, XP_016868703.1:p.Thr297Ala, XP_016868704.1:p.Thr297Pro, XP_016868704.1:p.Thr297Ala, XP_047277493.1:p.Thr297Pro, XP_047277493.1:p.Thr297Ala, XP_047277499.1:p.Thr297Pro, XP_047277499.1:p.Thr297Ala, XP_047277488.1:p.Thr297Pro, XP_047277488.1:p.Thr297Ala, XP_047277494.1:p.Thr297Pro, XP_047277494.1:p.Thr297Ala, XP_047277507.1:p.Thr297Pro, XP_047277507.1:p.Thr297Ala, XP_047277489.1:p.Thr297Pro, XP_047277489.1:p.Thr297Ala, XP_047277502.1:p.Thr297Pro, XP_047277502.1:p.Thr297Ala, XP_047277503.1:p.Thr297Pro, XP_047277503.1:p.Thr297Ala, XP_047277505.1:p.Thr297Pro, XP_047277505.1:p.Thr297Ala, XP_047277513.1:p.Thr297Pro, XP_047277513.1:p.Thr297Ala, XP_047277500.1:p.Thr297Pro, XP_047277500.1:p.Thr297Ala, XP_047277492.1:p.Thr297Pro, XP_047277492.1:p.Thr297Ala, XP_047277495.1:p.Thr297Pro, XP_047277495.1:p.Thr297Ala, XP_047277506.1:p.Thr297Pro, XP_047277506.1:p.Thr297Ala, XP_047277511.1:p.Thr297Pro, XP_047277511.1:p.Thr297Ala, XP_047277487.1:p.Thr297Pro, XP_047277487.1:p.Thr297Ala, XP_047277519.1:p.Thr297Pro, XP_047277519.1:p.Thr297Ala, XP_047277490.1:p.Thr297Pro, XP_047277490.1:p.Thr297Ala, XP_047277504.1:p.Thr297Pro, XP_047277504.1:p.Thr297Ala, XP_047277501.1:p.Thr297Pro, XP_047277501.1:p.Thr297Ala, XP_047277491.1:p.Thr297Pro, XP_047277491.1:p.Thr297Ala, XP_047277508.1:p.Thr297Pro, XP_047277508.1:p.Thr297Ala, XP_047277512.1:p.Thr297Pro, XP_047277512.1:p.Thr297Ala, XP_047277496.1:p.Thr297Pro, XP_047277496.1:p.Thr297Ala, XP_047277514.1:p.Thr297Pro, XP_047277514.1:p.Thr297Ala, XP_047277497.1:p.Thr297Pro, XP_047277497.1:p.Thr297Ala, XP_047277509.1:p.Thr297Pro, XP_047277509.1:p.Thr297Ala, XP_047277516.1:p.Thr297Pro, XP_047277516.1:p.Thr297Ala, XP_047277498.1:p.Thr297Pro, XP_047277498.1:p.Thr297Ala, XP_047277515.1:p.Thr297Pro, XP_047277515.1:p.Thr297Ala, XP_047277517.1:p.Thr297Pro, XP_047277517.1:p.Thr297Ala, XP_047277518.1:p.Thr297Pro, XP_047277518.1:p.Thr297Ala, XP_047277520.1:p.Thr297Pro, XP_047277520.1:p.Thr297Ala

                                    18.

                                    rs1470831056 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:27458499 (GRCh38)
                                      8:27316016 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:27458498:C:T
                                      Gene:
                                      PTK2B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_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.27458499C>T, NC_000008.10:g.27316016C>T, NG_029510.2:g.152018C>T, NM_004103.4:c.3020C>T, NM_173174.3:c.3020C>T, NM_173174.2:c.3020C>T, NM_173176.3:c.3020C>T, NM_173176.2:c.3020C>T, NM_173175.2:c.2894C>T, NG_015827.1:g.25798G>A, XM_005273447.5:c.3020C>T, XM_005273447.4:c.3020C>T, XM_005273447.3:c.3020C>T, XM_005273447.2:c.3020C>T, XM_005273447.1:c.3020C>T, XM_011544442.4:c.2981C>T, XM_011544442.3:c.2981C>T, XM_011544442.2:c.2981C>T, XM_011544442.1:c.2981C>T, XM_017013216.3:c.2945C>T, XM_017013216.2:c.2945C>T, XM_017013216.1:c.2945C>T, XM_011544441.3:c.3020C>T, XM_011544441.2:c.3020C>T, XM_011544441.1:c.3020C>T, XM_017013214.2:c.3020C>T, XM_017013214.1:c.3020C>T, XM_017013215.2:c.2981C>T, XM_017013215.1:c.2981C>T, XM_047421537.1:c.3020C>T, XM_047421543.1:c.3020C>T, XM_047421532.1:c.3020C>T, XM_047421538.1:c.3020C>T, XM_047421551.1:c.2981C>T, XM_047421533.1:c.3020C>T, XM_047421546.1:c.3020C>T, XM_047421547.1:c.2984C>T, XM_047421549.1:c.2981C>T, XM_047421557.1:c.2894C>T, XM_047421544.1:c.3020C>T, XM_047421536.1:c.3020C>T, XM_047421539.1:c.3020C>T, XM_047421550.1:c.2981C>T, XM_047421555.1:c.2894C>T, XM_047421531.1:c.3020C>T, XM_047421563.1:c.2855C>T, XM_047421534.1:c.3020C>T, XM_047421548.1:c.2984C>T, XM_047421545.1:c.3020C>T, XM_047421535.1:c.3020C>T, XM_047421552.1:c.2981C>T, XM_047421556.1:c.2894C>T, XM_047421540.1:c.3020C>T, XM_047421558.1:c.2894C>T, XM_047421541.1:c.3020C>T, XM_047421553.1:c.2981C>T, XM_047421560.1:c.2894C>T, XM_047421542.1:c.3020C>T, XM_047421559.1:c.2894C>T, XM_047421561.1:c.2894C>T, XM_047421562.1:c.2858C>T, XM_047421564.1:c.2855C>T, NP_004094.3:p.Pro1007Leu, NP_775266.1:p.Pro1007Leu, NP_775268.1:p.Pro1007Leu, NP_775267.1:p.Pro965Leu, XP_005273504.1:p.Pro1007Leu, XP_011542744.1:p.Pro994Leu, XP_016868705.1:p.Pro982Leu, XP_011542743.1:p.Pro1007Leu, XP_016868703.1:p.Pro1007Leu, XP_016868704.1:p.Pro994Leu, XP_047277493.1:p.Pro1007Leu, XP_047277499.1:p.Pro1007Leu, XP_047277488.1:p.Pro1007Leu, XP_047277494.1:p.Pro1007Leu, XP_047277507.1:p.Pro994Leu, XP_047277489.1:p.Pro1007Leu, XP_047277502.1:p.Pro1007Leu, XP_047277503.1:p.Pro995Leu, XP_047277505.1:p.Pro994Leu, XP_047277513.1:p.Pro965Leu, XP_047277500.1:p.Pro1007Leu, XP_047277492.1:p.Pro1007Leu, XP_047277495.1:p.Pro1007Leu, XP_047277506.1:p.Pro994Leu, XP_047277511.1:p.Pro965Leu, XP_047277487.1:p.Pro1007Leu, XP_047277519.1:p.Pro952Leu, XP_047277490.1:p.Pro1007Leu, XP_047277504.1:p.Pro995Leu, XP_047277501.1:p.Pro1007Leu, XP_047277491.1:p.Pro1007Leu, XP_047277508.1:p.Pro994Leu, XP_047277512.1:p.Pro965Leu, XP_047277496.1:p.Pro1007Leu, XP_047277514.1:p.Pro965Leu, XP_047277497.1:p.Pro1007Leu, XP_047277509.1:p.Pro994Leu, XP_047277516.1:p.Pro965Leu, XP_047277498.1:p.Pro1007Leu, XP_047277515.1:p.Pro965Leu, XP_047277517.1:p.Pro965Leu, XP_047277518.1:p.Pro953Leu, XP_047277520.1:p.Pro952Leu

                                      19.

                                      rs1470768165 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        8:27431403 (GRCh38)
                                        8:27288920 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:27431402:A:C
                                        Gene:
                                        PTK2B (Varview), MIR6842 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.27431403A>C, NC_000008.10:g.27288920A>C, NG_029510.2:g.124922A>C, NM_004103.4:c.816A>C, NM_173174.3:c.816A>C, NM_173174.2:c.816A>C, NM_173176.3:c.816A>C, NM_173176.2:c.816A>C, NM_173175.2:c.816A>C, XM_005273447.5:c.816A>C, XM_005273447.4:c.816A>C, XM_005273447.3:c.816A>C, XM_005273447.2:c.816A>C, XM_005273447.1:c.816A>C, XM_011544442.4:c.816A>C, XM_011544442.3:c.816A>C, XM_011544442.2:c.816A>C, XM_011544442.1:c.816A>C, XM_017013216.3:c.816A>C, XM_017013216.2:c.816A>C, XM_017013216.1:c.816A>C, XM_011544441.3:c.816A>C, XM_011544441.2:c.816A>C, XM_011544441.1:c.816A>C, XM_017013214.2:c.816A>C, XM_017013214.1:c.816A>C, XM_017013215.2:c.816A>C, XM_017013215.1:c.816A>C, XM_047421537.1:c.816A>C, XM_047421543.1:c.816A>C, XM_047421532.1:c.816A>C, XM_047421538.1:c.816A>C, XM_047421551.1:c.816A>C, XM_047421533.1:c.816A>C, XM_047421546.1:c.816A>C, XM_047421547.1:c.816A>C, XM_047421549.1:c.816A>C, XM_047421557.1:c.816A>C, XM_047421544.1:c.816A>C, XM_047421536.1:c.816A>C, XM_047421539.1:c.816A>C, XM_047421550.1:c.816A>C, XM_047421555.1:c.816A>C, XM_047421531.1:c.816A>C, XM_047421563.1:c.816A>C, XM_047421534.1:c.816A>C, XM_047421548.1:c.816A>C, XM_047421545.1:c.816A>C, XM_047421535.1:c.816A>C, XM_047421552.1:c.816A>C, XM_047421556.1:c.816A>C, XM_047421540.1:c.816A>C, XM_047421558.1:c.816A>C, XM_047421541.1:c.816A>C, XM_047421553.1:c.816A>C, XM_047421560.1:c.816A>C, XM_047421542.1:c.816A>C, XM_047421559.1:c.816A>C, XM_047421561.1:c.816A>C, XM_047421562.1:c.816A>C, XM_047421564.1:c.816A>C

                                        20.

                                        rs1470708135 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          8:27440404 (GRCh38)
                                          8:27297921 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:27440403:G:T
                                          Gene:
                                          PTK2B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000008.11:g.27440404G>T, NC_000008.10:g.27297921G>T, NG_029510.2:g.133923G>T, NM_004103.4:c.2002G>T, NM_173174.3:c.2002G>T, NM_173174.2:c.2002G>T, NM_173176.3:c.2002G>T, NM_173176.2:c.2002G>T, NM_173175.2:c.2002G>T, XM_005273447.5:c.2002G>T, XM_005273447.4:c.2002G>T, XM_005273447.3:c.2002G>T, XM_005273447.2:c.2002G>T, XM_005273447.1:c.2002G>T, XM_011544442.4:c.1963G>T, XM_011544442.3:c.1963G>T, XM_011544442.2:c.1963G>T, XM_011544442.1:c.1963G>T, XM_017013216.3:c.1963G>T, XM_017013216.2:c.1963G>T, XM_017013216.1:c.1963G>T, XM_011544441.3:c.2002G>T, XM_011544441.2:c.2002G>T, XM_011544441.1:c.2002G>T, XM_017013214.2:c.2002G>T, XM_017013214.1:c.2002G>T, XM_017013215.2:c.1963G>T, XM_017013215.1:c.1963G>T, XM_047421537.1:c.2002G>T, XM_047421543.1:c.2002G>T, XM_047421532.1:c.2002G>T, XM_047421538.1:c.2002G>T, XM_047421551.1:c.1963G>T, XM_047421533.1:c.2002G>T, XM_047421546.1:c.2002G>T, XM_047421547.1:c.2002G>T, XM_047421549.1:c.1963G>T, XM_047421557.1:c.2002G>T, XM_047421544.1:c.2002G>T, XM_047421536.1:c.2002G>T, XM_047421539.1:c.2002G>T, XM_047421550.1:c.1963G>T, XM_047421555.1:c.2002G>T, XM_047421531.1:c.2002G>T, XM_047421563.1:c.1963G>T, XM_047421534.1:c.2002G>T, XM_047421548.1:c.2002G>T, XM_047421545.1:c.2002G>T, XM_047421535.1:c.2002G>T, XM_047421552.1:c.1963G>T, XM_047421556.1:c.2002G>T, XM_047421540.1:c.2002G>T, XM_047421558.1:c.2002G>T, XM_047421541.1:c.2002G>T, XM_047421553.1:c.1963G>T, XM_047421560.1:c.2002G>T, XM_047421542.1:c.2002G>T, XM_047421559.1:c.2002G>T, XM_047421561.1:c.2002G>T, XM_047421562.1:c.2002G>T, XM_047421564.1:c.1963G>T, NP_004094.3:p.Asp668Tyr, NP_775266.1:p.Asp668Tyr, NP_775268.1:p.Asp668Tyr, NP_775267.1:p.Asp668Tyr, XP_005273504.1:p.Asp668Tyr, XP_011542744.1:p.Asp655Tyr, XP_016868705.1:p.Asp655Tyr, XP_011542743.1:p.Asp668Tyr, XP_016868703.1:p.Asp668Tyr, XP_016868704.1:p.Asp655Tyr, XP_047277493.1:p.Asp668Tyr, XP_047277499.1:p.Asp668Tyr, XP_047277488.1:p.Asp668Tyr, XP_047277494.1:p.Asp668Tyr, XP_047277507.1:p.Asp655Tyr, XP_047277489.1:p.Asp668Tyr, XP_047277502.1:p.Asp668Tyr, XP_047277503.1:p.Asp668Tyr, XP_047277505.1:p.Asp655Tyr, XP_047277513.1:p.Asp668Tyr, XP_047277500.1:p.Asp668Tyr, XP_047277492.1:p.Asp668Tyr, XP_047277495.1:p.Asp668Tyr, XP_047277506.1:p.Asp655Tyr, XP_047277511.1:p.Asp668Tyr, XP_047277487.1:p.Asp668Tyr, XP_047277519.1:p.Asp655Tyr, XP_047277490.1:p.Asp668Tyr, XP_047277504.1:p.Asp668Tyr, XP_047277501.1:p.Asp668Tyr, XP_047277491.1:p.Asp668Tyr, XP_047277508.1:p.Asp655Tyr, XP_047277512.1:p.Asp668Tyr, XP_047277496.1:p.Asp668Tyr, XP_047277514.1:p.Asp668Tyr, XP_047277497.1:p.Asp668Tyr, XP_047277509.1:p.Asp655Tyr, XP_047277516.1:p.Asp668Tyr, XP_047277498.1:p.Asp668Tyr, XP_047277515.1:p.Asp668Tyr, XP_047277517.1:p.Asp668Tyr, XP_047277518.1:p.Asp668Tyr, XP_047277520.1:p.Asp655Tyr

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