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Items: 1 to 20 of 857

1.

rs1488978977 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:140818310 (GRCh38)
    8:141828409 (GRCh37)
    Canonical SPDI:
    NC_000008.11:140818309:T:C
    Gene:
    PTK2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.140818310T>C, NC_000008.10:g.141828409T>C, NG_029467.2:g.188004A>G, NM_005607.5:c.900A>G, NM_005607.4:c.900A>G, NM_153831.4:c.834A>G, NM_153831.3:c.834A>G, NM_001352697.2:c.966A>G, NM_001352697.1:c.966A>G, NM_001352698.2:c.873A>G, NM_001352698.1:c.873A>G, NM_001352705.2:c.873A>G, NM_001352705.1:c.873A>G, NM_001352712.2:c.834A>G, NM_001352712.1:c.834A>G, NM_001352701.2:c.834A>G, NM_001352701.1:c.834A>G, NM_001352703.2:c.834A>G, NM_001352703.1:c.834A>G, NM_001352747.2:c.-806A>G, NM_001352747.1:c.-806A>G, NM_001352702.2:c.834A>G, NM_001352702.1:c.834A>G, NM_001352704.2:c.834A>G, NM_001352704.1:c.834A>G, NM_001352707.2:c.834A>G, NM_001352707.1:c.834A>G, NR_148037.2:n.1228A>G, NR_148037.1:n.1259A>G, NM_001352709.2:c.834A>G, NM_001352709.1:c.834A>G, NM_001352700.2:c.834A>G, NM_001352700.1:c.834A>G, NM_001352699.2:c.834A>G, NM_001352699.1:c.834A>G, NM_001352695.2:c.834A>G, NM_001352695.1:c.834A>G, NM_001199649.2:c.834A>G, NM_001199649.1:c.834A>G, NM_001352714.2:c.834A>G, NM_001352714.1:c.834A>G, NM_001352716.2:c.834A>G, NM_001352716.1:c.834A>G, NR_148036.2:n.1113A>G, NR_148036.1:n.1144A>G, NM_001352717.2:c.834A>G, NM_001352717.1:c.834A>G, NM_001352708.2:c.834A>G, NM_001352708.1:c.834A>G, NM_001352710.2:c.834A>G, NM_001352710.1:c.834A>G, NM_001352718.2:c.834A>G, NM_001352718.1:c.834A>G, NM_001352725.2:c.834A>G, NM_001352725.1:c.834A>G, NM_001352723.2:c.834A>G, NM_001352723.1:c.834A>G, NM_001352719.2:c.834A>G, NM_001352719.1:c.834A>G, NM_001352724.2:c.834A>G, NM_001352724.1:c.834A>G, NM_001352731.2:c.495A>G, NM_001352731.1:c.495A>G, NM_001352706.2:c.834A>G, NM_001352706.1:c.834A>G, NM_001352711.2:c.834A>G, NM_001352711.1:c.834A>G, NM_001352722.2:c.834A>G, NM_001352722.1:c.834A>G, NM_001352713.2:c.834A>G, NM_001352713.1:c.834A>G, NM_001352726.2:c.834A>G, NM_001352726.1:c.834A>G, NM_001352715.2:c.834A>G, NM_001352715.1:c.834A>G, NM_001352737.2:c.495A>G, NM_001352737.1:c.495A>G, NM_001352720.2:c.834A>G, NM_001352720.1:c.834A>G, NM_001352694.2:c.834A>G, NM_001352694.1:c.834A>G, NM_001352721.2:c.834A>G, NM_001352721.1:c.834A>G, NM_001352739.2:c.495A>G, NM_001352739.1:c.495A>G, NM_001352696.2:c.495A>G, NM_001352696.1:c.495A>G, NM_001352730.2:c.495A>G, NM_001352730.1:c.495A>G, NM_001352735.2:c.432A>G, NM_001352735.1:c.432A>G, NM_001352732.2:c.495A>G, NM_001352732.1:c.495A>G, NM_001352736.2:c.531A>G, NM_001352736.1:c.531A>G, NM_001352740.2:c.495A>G, NM_001352740.1:c.495A>G, NM_001352733.2:c.495A>G, NM_001352733.1:c.495A>G, NM_001352743.2:c.495A>G, NM_001352743.1:c.495A>G, NM_001352727.2:c.834A>G, NM_001352727.1:c.834A>G, NM_001352734.2:c.495A>G, NM_001352734.1:c.495A>G, NM_001352728.2:c.834A>G, NM_001352728.1:c.834A>G, NM_001316342.2:c.495A>G, NM_001316342.1:c.495A>G, NM_001352729.2:c.834A>G, NM_001352729.1:c.834A>G, NM_001352738.2:c.495A>G, NM_001352738.1:c.495A>G, NR_148038.2:n.946A>G, NR_148038.1:n.977A>G, NM_001352741.2:c.495A>G, NM_001352741.1:c.495A>G, NM_001352742.2:c.432A>G, NM_001352742.1:c.432A>G, NM_001352744.2:c.495A>G, NM_001352744.1:c.495A>G, NM_001352745.2:c.495A>G, NM_001352745.1:c.495A>G, NR_148039.2:n.946A>G, NR_148039.1:n.977A>G, NM_001352746.2:c.432A>G, NM_001352746.1:c.432A>G, NM_001352748.2:c.834A>G, NM_001352748.1:c.834A>G, NM_001387650.1:c.966A>G, NM_001387649.1:c.966A>G, NM_001387648.1:c.966A>G, NM_001387647.1:c.834A>G, NM_001387646.1:c.966A>G, NM_001387645.1:c.834A>G, NM_001387662.1:c.966A>G, NM_001387661.1:c.966A>G, NM_001387644.1:c.873A>G, NM_001387643.1:c.966A>G, NM_001387642.1:c.834A>G, NM_001387660.1:c.966A>G, NM_001387641.1:c.873A>G, NM_001387640.1:c.834A>G, NM_001387639.1:c.834A>G, NM_001387659.1:c.834A>G, NM_001387638.1:c.834A>G, NM_001387637.1:c.834A>G, NM_001387658.1:c.834A>G, NM_001387636.1:c.834A>G, NM_001387635.1:c.495A>G, NM_001387634.1:c.834A>G, NM_001387633.1:c.834A>G, NR_170673.1:n.1024A>G, NM_001387632.1:c.834A>G, NM_001387631.1:c.834A>G, NM_001387630.1:c.312A>G, NM_001387629.1:c.-109A>G, NM_001387628.1:c.834A>G, NM_001387657.1:c.834A>G, NM_001387627.1:c.834A>G, NM_001387625.1:c.834A>G, NM_001387624.1:c.834A>G, NM_001387623.1:c.495A>G, NM_001387622.1:c.834A>G, NM_001387621.1:c.-109A>G, NM_001387656.1:c.834A>G, NM_001387587.1:c.834A>G, NM_001387620.1:c.495A>G, NM_001387619.1:c.834A>G, NM_001387618.1:c.495A>G, NM_001387655.1:c.834A>G, NM_001387617.1:c.-109A>G, NM_001387616.1:c.-109A>G, NM_001387615.1:c.834A>G, NM_001387614.1:c.834A>G, NM_001387613.1:c.495A>G, NM_001387612.1:c.495A>G, NM_001387611.1:c.495A>G, NM_001387586.1:c.834A>G, NM_001387610.1:c.312A>G, NM_001387609.1:c.495A>G, NM_001387608.1:c.495A>G, NM_001387654.1:c.495A>G, NR_170672.1:n.1024A>G, NM_001387607.1:c.495A>G, NM_001387606.1:c.495A>G, NM_001387653.1:c.834A>G, NM_001387585.1:c.834A>G, NM_001387605.1:c.495A>G, NM_001387652.1:c.495A>G, NM_001387604.1:c.-109A>G, NM_001387603.1:c.495A>G, NM_001387592.1:c.-109A>G, NM_001387591.1:c.495A>G, NM_001387584.1:c.495A>G, NM_001387590.1:c.495A>G, NR_170671.1:n.857A>G, XM_024447202.2:c.987A>G, XM_024447202.1:c.987A>G, XM_024447203.2:c.987A>G, XM_024447203.1:c.987A>G, XM_024447207.2:c.987A>G, XM_024447207.1:c.987A>G, XM_024447208.2:c.987A>G, XM_024447208.1:c.987A>G, XM_024447209.2:c.987A>G, XM_024447209.1:c.987A>G, XM_047422048.1:c.531A>G, XM_047422019.1:c.966A>G, XM_047422021.1:c.966A>G, XM_047422028.1:c.966A>G, XM_047422031.1:c.966A>G, XM_047422034.1:c.966A>G, XM_047422036.1:c.966A>G, XM_047422037.1:c.966A>G, XM_047422020.1:c.966A>G, XM_047422047.1:c.966A>G, XM_047422016.1:c.987A>G, XM_047422017.1:c.987A>G, XM_047422018.1:c.987A>G, XM_047422022.1:c.987A>G, XM_047422049.1:c.834A>G, XM_047422023.1:c.987A>G, XM_047422024.1:c.987A>G, XM_047422025.1:c.987A>G, XM_047422039.1:c.834A>G, XM_047422053.1:c.834A>G, XM_047422027.1:c.987A>G, XM_047422026.1:c.987A>G, XM_047422029.1:c.987A>G, XM_047422030.1:c.987A>G, XM_047422032.1:c.987A>G, XM_047422044.1:c.873A>G, XM_047422033.1:c.987A>G, XM_047422035.1:c.987A>G, XM_047422038.1:c.987A>G, XM_047422040.1:c.987A>G, XM_047422041.1:c.987A>G, XM_047422043.1:c.987A>G, XM_047422045.1:c.987A>G, XM_047422050.1:c.495A>G, XM_047422046.1:c.987A>G, XM_047422052.1:c.495A>G, XM_047422054.1:c.495A>G

    2.

    rs1488513998 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      8:140668411 (GRCh38)
      8:141678510 (GRCh37)
      Canonical SPDI:
      NC_000008.11:140668410:T:G
      Gene:
      PTK2 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000031/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000008.11:g.140668411T>G, NC_000008.10:g.141678510T>G, NG_029467.2:g.337903A>C, NM_005607.5:c.2789A>C, NM_005607.4:c.2789A>C, NM_153831.4:c.2723A>C, NM_153831.3:c.2723A>C, NM_001352697.2:c.2915A>C, NM_001352697.1:c.2915A>C, NM_001352698.2:c.2894A>C, NM_001352698.1:c.2894A>C, NM_001352705.2:c.2810A>C, NM_001352705.1:c.2810A>C, NM_001352712.2:c.2846A>C, NM_001352712.1:c.2846A>C, NM_001352701.2:c.2855A>C, NM_001352701.1:c.2855A>C, NM_001352703.2:c.2855A>C, NM_001352703.1:c.2855A>C, NM_001352747.2:c.1310A>C, NM_001352747.1:c.1310A>C, NM_001352702.2:c.2855A>C, NM_001352702.1:c.2855A>C, NM_001352704.2:c.2834A>C, NM_001352704.1:c.2834A>C, NM_001352707.2:c.2771A>C, NM_001352707.1:c.2771A>C, NR_148037.2:n.3053A>C, NR_148037.1:n.3084A>C, NM_001352709.2:c.2771A>C, NM_001352709.1:c.2771A>C, NM_001352700.2:c.2855A>C, NM_001352700.1:c.2855A>C, NM_001352699.2:c.2855A>C, NM_001352699.1:c.2855A>C, NM_001352695.2:c.2762A>C, NM_001352695.1:c.2762A>C, NM_001199649.2:c.2762A>C, NM_001199649.1:c.2762A>C, NM_001352714.2:c.2753A>C, NM_001352714.1:c.2753A>C, NM_001352716.2:c.2747A>C, NM_001352716.1:c.2747A>C, NR_148036.2:n.3022A>C, NR_148036.1:n.3053A>C, NM_001352717.2:c.2741A>C, NM_001352717.1:c.2741A>C, NM_001352708.2:c.2771A>C, NM_001352708.1:c.2771A>C, NM_001352710.2:c.2771A>C, NM_001352710.1:c.2771A>C, NM_001352718.2:c.2732A>C, NM_001352718.1:c.2732A>C, NM_001352725.2:c.2669A>C, NM_001352725.1:c.2669A>C, NM_001352723.2:c.2708A>C, NM_001352723.1:c.2708A>C, NM_001352719.2:c.2732A>C, NM_001352719.1:c.2732A>C, NM_001352724.2:c.2771A>C, NM_001352724.1:c.2771A>C, NM_001352731.2:c.2510A>C, NM_001352731.1:c.2510A>C, NM_001352706.2:c.2771A>C, NM_001352706.1:c.2771A>C, NM_001352711.2:c.2768A>C, NM_001352711.1:c.2768A>C, NM_001352722.2:c.2708A>C, NM_001352722.1:c.2708A>C, NM_001352713.2:c.2753A>C, NM_001352713.1:c.2753A>C, NM_001352726.2:c.2663A>C, NM_001352726.1:c.2663A>C, NM_001352715.2:c.2750A>C, NM_001352715.1:c.2750A>C, NM_001352737.2:c.2486A>C, NM_001352737.1:c.2486A>C, NM_001352720.2:c.2732A>C, NM_001352720.1:c.2732A>C, NM_001352694.2:c.2723A>C, NM_001352694.1:c.2723A>C, NM_001352721.2:c.2708A>C, NM_001352721.1:c.2708A>C, NM_001352739.2:c.2414A>C, NM_001352739.1:c.2414A>C, NM_001352696.2:c.2432A>C, NM_001352696.1:c.2432A>C, NM_001352730.2:c.2516A>C, NM_001352730.1:c.2516A>C, NM_001352735.2:c.2453A>C, NM_001352735.1:c.2453A>C, NM_001352732.2:c.2507A>C, NM_001352732.1:c.2507A>C, NM_001352736.2:c.2447A>C, NM_001352736.1:c.2447A>C, NM_001352740.2:c.2411A>C, NM_001352740.1:c.2411A>C, NM_001352733.2:c.2495A>C, NM_001352733.1:c.2495A>C, NM_001352743.2:c.2369A>C, NM_001352743.1:c.2369A>C, NM_001352727.2:c.2708A>C, NM_001352727.1:c.2708A>C, NM_001352734.2:c.2453A>C, NM_001352734.1:c.2453A>C, NM_001352728.2:c.2615A>C, NM_001352728.1:c.2615A>C, NM_001316342.2:c.2432A>C, NM_001316342.1:c.2432A>C, NM_001352729.2:c.2600A>C, NM_001352729.1:c.2600A>C, NM_001352738.2:c.2426A>C, NM_001352738.1:c.2426A>C, NR_148038.2:n.2771A>C, NR_148038.1:n.2802A>C, NM_001352741.2:c.2393A>C, NM_001352741.1:c.2393A>C, NM_001352742.2:c.2369A>C, NM_001352742.1:c.2369A>C, NM_001352744.2:c.2324A>C, NM_001352744.1:c.2324A>C, NM_001352745.2:c.2306A>C, NM_001352745.1:c.2306A>C, NR_148039.2:n.2663A>C, NR_148039.1:n.2694A>C, NM_001352746.2:c.2261A>C, NM_001352746.1:c.2261A>C, NM_001352749.2:c.662A>C, NM_001352749.1:c.662A>C, NM_001352750.2:c.653A>C, NM_001352750.1:c.653A>C, NM_001352751.2:c.599A>C, NM_001352751.1:c.599A>C, NM_001352752.2:c.590A>C, NM_001352752.1:c.590A>C, NM_001387650.1:c.2855A>C, NM_001387649.1:c.2903A>C, NM_001387648.1:c.2855A>C, NM_001387647.1:c.2723A>C, NM_001387646.1:c.2855A>C, NM_001387645.1:c.2723A>C, NM_001387662.1:c.2864A>C, NM_001387661.1:c.2855A>C, NM_001387644.1:c.2873A>C, NM_001387643.1:c.2855A>C, NM_001387642.1:c.2723A>C, NM_001387660.1:c.2855A>C, NM_001387641.1:c.2762A>C, NM_001387640.1:c.2792A>C, NM_001387639.1:c.2771A>C, NM_001387659.1:c.2732A>C, NM_001387638.1:c.2732A>C, NM_001387637.1:c.2723A>C, NM_001387658.1:c.2723A>C, NM_001387636.1:c.2723A>C, NM_001387635.1:c.2276A>C, NM_001387634.1:c.2750A>C, NM_001387633.1:c.2690A>C, NR_170673.1:n.3011A>C, NM_001387632.1:c.2660A>C, NM_001387631.1:c.2747A>C, NM_001387630.1:c.2201A>C, NM_001387629.1:c.1808A>C, NM_001387628.1:c.2723A>C, NM_001387657.1:c.2723A>C, NM_001387627.1:c.2678A>C, NM_001387625.1:c.2669A>C, NM_001387624.1:c.2747A>C, NM_001387623.1:c.2384A>C, NM_001387622.1:c.2741A>C, NM_001387621.1:c.1781A>C, NM_001387656.1:c.2669A>C, NM_001387587.1:c.2723A>C, NM_001387620.1:c.2432A>C, NM_001387619.1:c.2615A>C, NM_001387618.1:c.2384A>C, NM_001387655.1:c.2723A>C, NM_001387617.1:c.1781A>C, NM_001387616.1:c.1781A>C, NM_001387615.1:c.2663A>C, NM_001387614.1:c.2660A>C, NM_001387613.1:c.2393A>C, NM_001387612.1:c.2384A>C, NM_001387611.1:c.2402A>C, NM_001387586.1:c.2723A>C, NM_001387610.1:c.2201A>C, NM_001387609.1:c.2393A>C, NM_001387608.1:c.2384A>C, NM_001387654.1:c.2384A>C, NR_170672.1:n.2801A>C, NM_001387607.1:c.2423A>C, NM_001387606.1:c.2414A>C, NM_001387653.1:c.2615A>C, NM_001387585.1:c.2660A>C, NM_001387605.1:c.2384A>C, NM_001387652.1:c.2384A>C, NM_001387604.1:c.1790A>C, NM_001387603.1:c.2330A>C, NM_001387592.1:c.1781A>C, NM_001387591.1:c.2321A>C, NM_001387584.1:c.2384A>C, NM_001387590.1:c.2276A>C, NR_170671.1:n.2634A>C, XM_024447202.2:c.2897A>C, XM_024447202.1:c.2897A>C, XM_024447203.2:c.2894A>C, XM_024447203.1:c.2894A>C, XM_024447207.2:c.2822A>C, XM_024447207.1:c.2822A>C, XM_024447208.2:c.2816A>C, XM_024447208.1:c.2816A>C, XM_024447209.2:c.2798A>C, XM_024447209.1:c.2798A>C, XM_047422048.1:c.2552A>C, XM_047422019.1:c.2987A>C, XM_047422021.1:c.2987A>C, XM_047422028.1:c.2915A>C, XM_047422031.1:c.2903A>C, XM_047422034.1:c.2885A>C, XM_047422036.1:c.2876A>C, XM_047422037.1:c.2864A>C, XM_047422020.1:c.2987A>C, XM_047422047.1:c.2747A>C, XM_047422016.1:c.3008A>C, XM_047422017.1:c.2999A>C, XM_047422018.1:c.2987A>C, XM_047422022.1:c.2978A>C, XM_047422049.1:c.2855A>C, XM_047422023.1:c.2945A>C, XM_047422024.1:c.2936A>C, XM_047422025.1:c.2924A>C, XM_047422039.1:c.2855A>C, XM_047422053.1:c.2855A>C, XM_047422027.1:c.2915A>C, XM_047422026.1:c.2915A>C, XM_047422029.1:c.2906A>C, XM_047422030.1:c.2903A>C, XM_047422032.1:c.2900A>C, XM_047422044.1:c.2771A>C, XM_047422033.1:c.2885A>C, XM_047422035.1:c.2876A>C, XM_047422038.1:c.2861A>C, XM_047422040.1:c.2843A>C, XM_047422041.1:c.2831A>C, XM_047422043.1:c.2813A>C, XM_047422045.1:c.2768A>C, XM_047422050.1:c.2516A>C, XM_047422046.1:c.2753A>C, XM_047422052.1:c.2507A>C, XM_047422054.1:c.2414A>C, NP_005598.3:p.Glu930Ala, NP_722560.1:p.Glu908Ala, NP_001339626.1:p.Glu972Ala, NP_001339627.1:p.Glu965Ala, NP_001339634.1:p.Glu937Ala, NP_001339641.1:p.Glu949Ala, NP_001339630.1:p.Glu952Ala, NP_001339632.1:p.Glu952Ala, NP_001339676.1:p.Glu437Ala, NP_001339631.1:p.Glu952Ala, NP_001339633.1:p.Glu945Ala, NP_001339636.1:p.Glu924Ala, NP_001339638.1:p.Glu924Ala, NP_001339629.1:p.Glu952Ala, NP_001339628.1:p.Glu952Ala, NP_001339624.1:p.Glu921Ala, NP_001186578.1:p.Glu921Ala, NP_001339643.1:p.Glu918Ala, NP_001339645.1:p.Glu916Ala, NP_001339646.1:p.Glu914Ala, NP_001339637.1:p.Glu924Ala, NP_001339639.1:p.Glu924Ala, NP_001339647.1:p.Glu911Ala, NP_001339654.1:p.Glu890Ala, NP_001339652.1:p.Glu903Ala, NP_001339648.1:p.Glu911Ala, NP_001339653.1:p.Glu924Ala, NP_001339660.1:p.Glu837Ala, NP_001339635.1:p.Glu924Ala, NP_001339640.1:p.Glu923Ala, NP_001339651.1:p.Glu903Ala, NP_001339642.1:p.Glu918Ala, NP_001339655.1:p.Glu888Ala, NP_001339644.1:p.Glu917Ala, NP_001339666.1:p.Glu829Ala, NP_001339649.1:p.Glu911Ala, NP_001339623.1:p.Glu908Ala, NP_001339650.1:p.Glu903Ala, NP_001339668.1:p.Glu805Ala, NP_001339625.1:p.Glu811Ala, NP_001339659.1:p.Glu839Ala, NP_001339664.1:p.Glu818Ala, NP_001339661.1:p.Glu836Ala, NP_001339665.1:p.Glu816Ala, NP_001339669.1:p.Glu804Ala, NP_001339662.1:p.Glu832Ala, NP_001339672.1:p.Glu790Ala, NP_001339656.1:p.Glu903Ala, NP_001339663.1:p.Glu818Ala, NP_001339657.1:p.Glu872Ala, NP_001303271.1:p.Glu811Ala, NP_001339658.1:p.Glu867Ala, NP_001339667.1:p.Glu809Ala, NP_001339670.1:p.Glu798Ala, NP_001339671.1:p.Glu790Ala, NP_001339673.1:p.Glu775Ala, NP_001339674.1:p.Glu769Ala, NP_001339675.1:p.Glu754Ala, NP_001339678.1:p.Glu221Ala, NP_001339679.1:p.Glu218Ala, NP_001339680.1:p.Glu200Ala, NP_001339681.1:p.Glu197Ala, NP_001374579.1:p.Glu952Ala, NP_001374578.1:p.Glu968Ala, NP_001374577.1:p.Glu952Ala, NP_001374576.1:p.Glu908Ala, NP_001374575.1:p.Glu952Ala, NP_001374574.1:p.Glu908Ala, NP_001374591.1:p.Glu955Ala, NP_001374590.1:p.Glu952Ala, NP_001374573.1:p.Glu958Ala, NP_001374572.1:p.Glu952Ala, NP_001374571.1:p.Glu908Ala, NP_001374589.1:p.Glu952Ala, NP_001374570.1:p.Glu921Ala, NP_001374569.1:p.Glu931Ala, NP_001374568.1:p.Glu924Ala, NP_001374588.1:p.Glu911Ala, NP_001374567.1:p.Glu911Ala, NP_001374566.1:p.Glu908Ala, NP_001374587.1:p.Glu908Ala, NP_001374565.1:p.Glu908Ala, NP_001374564.1:p.Glu759Ala, NP_001374563.1:p.Glu917Ala, NP_001374562.1:p.Glu897Ala, NP_001374561.1:p.Glu887Ala, NP_001374560.1:p.Glu916Ala, NP_001374559.1:p.Glu734Ala, NP_001374558.1:p.Glu603Ala, NP_001374557.1:p.Glu908Ala, NP_001374586.1:p.Glu908Ala, NP_001374556.1:p.Glu893Ala, NP_001374554.1:p.Glu890Ala, NP_001374553.1:p.Glu916Ala, NP_001374552.1:p.Glu795Ala, NP_001374551.1:p.Glu914Ala, NP_001374550.1:p.Glu594Ala, NP_001374585.1:p.Glu890Ala, NP_001374516.1:p.Glu908Ala, NP_001374549.1:p.Glu811Ala, NP_001374548.1:p.Glu872Ala, NP_001374547.1:p.Glu795Ala, NP_001374584.1:p.Glu908Ala, NP_001374546.1:p.Glu594Ala, NP_001374545.1:p.Glu594Ala, NP_001374544.1:p.Glu888Ala, NP_001374543.1:p.Glu887Ala, NP_001374542.1:p.Glu798Ala, NP_001374541.1:p.Glu795Ala, NP_001374540.1:p.Glu801Ala, NP_001374515.1:p.Glu908Ala, NP_001374539.1:p.Glu734Ala, NP_001374538.1:p.Glu798Ala, NP_001374537.1:p.Glu795Ala, NP_001374583.1:p.Glu795Ala, NP_001374536.1:p.Glu808Ala, NP_001374535.1:p.Glu805Ala, NP_001374582.1:p.Glu872Ala, NP_001374514.1:p.Glu887Ala, NP_001374534.1:p.Glu795Ala, NP_001374581.1:p.Glu795Ala, NP_001374533.1:p.Glu597Ala, NP_001374532.1:p.Glu777Ala, NP_001374521.1:p.Glu594Ala, NP_001374520.1:p.Glu774Ala, NP_001374513.1:p.Glu795Ala, NP_001374519.1:p.Glu759Ala, XP_024302970.1:p.Glu966Ala, XP_024302971.1:p.Glu965Ala, XP_024302975.1:p.Glu941Ala, XP_024302976.1:p.Glu939Ala, XP_024302977.1:p.Glu933Ala, XP_047278004.1:p.Glu851Ala, XP_047277975.1:p.Glu996Ala, XP_047277977.1:p.Glu996Ala, XP_047277984.1:p.Glu972Ala, XP_047277987.1:p.Glu968Ala, XP_047277990.1:p.Glu962Ala, XP_047277992.1:p.Glu959Ala, XP_047277993.1:p.Glu955Ala, XP_047277976.1:p.Glu996Ala, XP_047278003.1:p.Glu916Ala, XP_047277972.1:p.Glu1003Ala, XP_047277973.1:p.Glu1000Ala, XP_047277974.1:p.Glu996Ala, XP_047277978.1:p.Glu993Ala, XP_047278005.1:p.Glu952Ala, XP_047277979.1:p.Glu982Ala, XP_047277980.1:p.Glu979Ala, XP_047277981.1:p.Glu975Ala, XP_047277995.1:p.Glu952Ala, XP_047278009.1:p.Glu952Ala, XP_047277983.1:p.Glu972Ala, XP_047277982.1:p.Glu972Ala, XP_047277985.1:p.Glu969Ala, XP_047277986.1:p.Glu968Ala, XP_047277988.1:p.Glu967Ala, XP_047278000.1:p.Glu924Ala, XP_047277989.1:p.Glu962Ala, XP_047277991.1:p.Glu959Ala, XP_047277994.1:p.Glu954Ala, XP_047277996.1:p.Glu948Ala, XP_047277997.1:p.Glu944Ala, XP_047277999.1:p.Glu938Ala, XP_047278001.1:p.Glu923Ala, XP_047278006.1:p.Glu839Ala, XP_047278002.1:p.Glu918Ala, XP_047278008.1:p.Glu836Ala, XP_047278010.1:p.Glu805Ala

      3.

      rs1487993702 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        8:140800560 (GRCh38)
        8:141810659 (GRCh37)
        Canonical SPDI:
        NC_000008.11:140800559:G:A
        Gene:
        PTK2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        A=0.000023/6 (TOPMED)
        HGVS:
        NC_000008.11:g.140800560G>A, NC_000008.10:g.141810659G>A, NG_029467.2:g.205754C>T, NM_005607.5:c.1058C>T, NM_005607.4:c.1058C>T, NM_153831.4:c.992C>T, NM_153831.3:c.992C>T, NM_001352697.2:c.1124C>T, NM_001352697.1:c.1124C>T, NM_001352698.2:c.1031C>T, NM_001352698.1:c.1031C>T, NM_001352705.2:c.1031C>T, NM_001352705.1:c.1031C>T, NM_001352712.2:c.992C>T, NM_001352712.1:c.992C>T, NM_001352701.2:c.992C>T, NM_001352701.1:c.992C>T, NM_001352703.2:c.992C>T, NM_001352703.1:c.992C>T, NM_001352747.2:c.-648C>T, NM_001352747.1:c.-648C>T, NM_001352702.2:c.992C>T, NM_001352702.1:c.992C>T, NM_001352704.2:c.992C>T, NM_001352704.1:c.992C>T, NM_001352707.2:c.992C>T, NM_001352707.1:c.992C>T, NR_148037.2:n.1386C>T, NR_148037.1:n.1417C>T, NM_001352709.2:c.992C>T, NM_001352709.1:c.992C>T, NM_001352700.2:c.992C>T, NM_001352700.1:c.992C>T, NM_001352699.2:c.992C>T, NM_001352699.1:c.992C>T, NM_001352695.2:c.992C>T, NM_001352695.1:c.992C>T, NM_001199649.2:c.992C>T, NM_001199649.1:c.992C>T, NM_001352714.2:c.992C>T, NM_001352714.1:c.992C>T, NM_001352716.2:c.884C>T, NM_001352716.1:c.884C>T, NR_148036.2:n.1271C>T, NR_148036.1:n.1302C>T, NM_001352717.2:c.992C>T, NM_001352717.1:c.992C>T, NM_001352708.2:c.992C>T, NM_001352708.1:c.992C>T, NM_001352710.2:c.992C>T, NM_001352710.1:c.992C>T, NM_001352718.2:c.992C>T, NM_001352718.1:c.992C>T, NM_001352725.2:c.992C>T, NM_001352725.1:c.992C>T, NM_001352723.2:c.992C>T, NM_001352723.1:c.992C>T, NM_001352719.2:c.992C>T, NM_001352719.1:c.992C>T, NM_001352724.2:c.992C>T, NM_001352724.1:c.992C>T, NM_001352731.2:c.653C>T, NM_001352731.1:c.653C>T, NM_001352706.2:c.992C>T, NM_001352706.1:c.992C>T, NM_001352711.2:c.992C>T, NM_001352711.1:c.992C>T, NM_001352722.2:c.992C>T, NM_001352722.1:c.992C>T, NM_001352713.2:c.992C>T, NM_001352713.1:c.992C>T, NM_001352726.2:c.884C>T, NM_001352726.1:c.884C>T, NM_001352715.2:c.992C>T, NM_001352715.1:c.992C>T, NM_001352737.2:c.653C>T, NM_001352737.1:c.653C>T, NM_001352720.2:c.992C>T, NM_001352720.1:c.992C>T, NM_001352694.2:c.992C>T, NM_001352694.1:c.992C>T, NM_001352721.2:c.992C>T, NM_001352721.1:c.992C>T, NM_001352739.2:c.653C>T, NM_001352739.1:c.653C>T, NM_001352696.2:c.653C>T, NM_001352696.1:c.653C>T, NM_001352730.2:c.653C>T, NM_001352730.1:c.653C>T, NM_001352735.2:c.590C>T, NM_001352735.1:c.590C>T, NM_001352732.2:c.653C>T, NM_001352732.1:c.653C>T, NM_001352736.2:c.689C>T, NM_001352736.1:c.689C>T, NM_001352740.2:c.653C>T, NM_001352740.1:c.653C>T, NM_001352733.2:c.653C>T, NM_001352733.1:c.653C>T, NM_001352743.2:c.653C>T, NM_001352743.1:c.653C>T, NM_001352727.2:c.992C>T, NM_001352727.1:c.992C>T, NM_001352734.2:c.653C>T, NM_001352734.1:c.653C>T, NM_001352728.2:c.884C>T, NM_001352728.1:c.884C>T, NM_001316342.2:c.653C>T, NM_001316342.1:c.653C>T, NM_001352729.2:c.884C>T, NM_001352729.1:c.884C>T, NM_001352738.2:c.653C>T, NM_001352738.1:c.653C>T, NR_148038.2:n.1104C>T, NR_148038.1:n.1135C>T, NM_001352741.2:c.653C>T, NM_001352741.1:c.653C>T, NM_001352742.2:c.590C>T, NM_001352742.1:c.590C>T, NM_001352744.2:c.545C>T, NM_001352744.1:c.545C>T, NM_001352745.2:c.545C>T, NM_001352745.1:c.545C>T, NR_148039.2:n.996C>T, NR_148039.1:n.1027C>T, NM_001352746.2:c.482C>T, NM_001352746.1:c.482C>T, NM_001352748.2:c.992C>T, NM_001352748.1:c.992C>T, NM_001387650.1:c.1124C>T, NM_001387649.1:c.1124C>T, NM_001387648.1:c.1124C>T, NM_001387647.1:c.992C>T, NM_001387646.1:c.1124C>T, NM_001387645.1:c.992C>T, NM_001387662.1:c.1124C>T, NM_001387661.1:c.1124C>T, NM_001387644.1:c.1031C>T, NM_001387643.1:c.1124C>T, NM_001387642.1:c.992C>T, NM_001387660.1:c.1124C>T, NM_001387641.1:c.1031C>T, NM_001387640.1:c.992C>T, NM_001387639.1:c.992C>T, NM_001387659.1:c.992C>T, NM_001387638.1:c.992C>T, NM_001387637.1:c.992C>T, NM_001387658.1:c.992C>T, NM_001387636.1:c.992C>T, NM_001387635.1:c.545C>T, NM_001387634.1:c.992C>T, NM_001387633.1:c.992C>T, NR_170673.1:n.1182C>T, NM_001387632.1:c.992C>T, NM_001387631.1:c.884C>T, NM_001387630.1:c.470C>T, NM_001387629.1:c.50C>T, NM_001387628.1:c.992C>T, NM_001387657.1:c.992C>T, NM_001387627.1:c.992C>T, NM_001387625.1:c.992C>T, NM_001387624.1:c.884C>T, NM_001387623.1:c.653C>T, NM_001387622.1:c.992C>T, NM_001387621.1:c.50C>T, NM_001387656.1:c.992C>T, NM_001387587.1:c.992C>T, NM_001387620.1:c.653C>T, NM_001387619.1:c.884C>T, NM_001387618.1:c.653C>T, NM_001387655.1:c.992C>T, NM_001387617.1:c.50C>T, NM_001387616.1:c.50C>T, NM_001387615.1:c.884C>T, NM_001387614.1:c.992C>T, NM_001387613.1:c.653C>T, NM_001387612.1:c.653C>T, NM_001387611.1:c.653C>T, NM_001387586.1:c.992C>T, NM_001387610.1:c.470C>T, NM_001387609.1:c.653C>T, NM_001387608.1:c.653C>T, NM_001387654.1:c.653C>T, NR_170672.1:n.1182C>T, NM_001387607.1:c.653C>T, NM_001387606.1:c.653C>T, NM_001387653.1:c.884C>T, NM_001387585.1:c.992C>T, NM_001387605.1:c.653C>T, NM_001387652.1:c.653C>T, NM_001387604.1:c.50C>T, NM_001387603.1:c.653C>T, NM_001387592.1:c.50C>T, NM_001387591.1:c.653C>T, NM_001387584.1:c.653C>T, NM_001387590.1:c.545C>T, NR_170671.1:n.1015C>T, XM_024447202.2:c.1145C>T, XM_024447202.1:c.1145C>T, XM_024447203.2:c.1145C>T, XM_024447203.1:c.1145C>T, XM_024447207.2:c.1145C>T, XM_024447207.1:c.1145C>T, XM_024447208.2:c.1037C>T, XM_024447208.1:c.1037C>T, XM_024447209.2:c.1037C>T, XM_024447209.1:c.1037C>T, XM_047422048.1:c.689C>T, XM_047422019.1:c.1124C>T, XM_047422021.1:c.1124C>T, XM_047422028.1:c.1124C>T, XM_047422031.1:c.1124C>T, XM_047422034.1:c.1124C>T, XM_047422036.1:c.1124C>T, XM_047422037.1:c.1124C>T, XM_047422020.1:c.1124C>T, XM_047422047.1:c.1016C>T, XM_047422016.1:c.1145C>T, XM_047422017.1:c.1145C>T, XM_047422018.1:c.1145C>T, XM_047422022.1:c.1145C>T, XM_047422049.1:c.992C>T, XM_047422023.1:c.1145C>T, XM_047422024.1:c.1145C>T, XM_047422025.1:c.1145C>T, XM_047422039.1:c.992C>T, XM_047422053.1:c.992C>T, XM_047422027.1:c.1145C>T, XM_047422026.1:c.1145C>T, XM_047422029.1:c.1145C>T, XM_047422030.1:c.1145C>T, XM_047422032.1:c.1037C>T, XM_047422044.1:c.1031C>T, XM_047422033.1:c.1145C>T, XM_047422035.1:c.1145C>T, XM_047422038.1:c.1145C>T, XM_047422040.1:c.1145C>T, XM_047422041.1:c.1145C>T, XM_047422043.1:c.1145C>T, XM_047422045.1:c.1037C>T, XM_047422050.1:c.653C>T, XM_047422046.1:c.1037C>T, XM_047422052.1:c.653C>T, XM_047422054.1:c.653C>T, NP_005598.3:p.Ala353Val, NP_722560.1:p.Ala331Val, NP_001339626.1:p.Ala375Val, NP_001339627.1:p.Ala344Val, NP_001339634.1:p.Ala344Val, NP_001339641.1:p.Ala331Val, NP_001339630.1:p.Ala331Val, NP_001339632.1:p.Ala331Val, NP_001339631.1:p.Ala331Val, NP_001339633.1:p.Ala331Val, NP_001339636.1:p.Ala331Val, NP_001339638.1:p.Ala331Val, NP_001339629.1:p.Ala331Val, NP_001339628.1:p.Ala331Val, NP_001339624.1:p.Ala331Val, NP_001186578.1:p.Ala331Val, NP_001339643.1:p.Ala331Val, NP_001339645.1:p.Ala295Val, NP_001339646.1:p.Ala331Val, NP_001339637.1:p.Ala331Val, NP_001339639.1:p.Ala331Val, NP_001339647.1:p.Ala331Val, NP_001339654.1:p.Ala331Val, NP_001339652.1:p.Ala331Val, NP_001339648.1:p.Ala331Val, NP_001339653.1:p.Ala331Val, NP_001339660.1:p.Ala218Val, NP_001339635.1:p.Ala331Val, NP_001339640.1:p.Ala331Val, NP_001339651.1:p.Ala331Val, NP_001339642.1:p.Ala331Val, NP_001339655.1:p.Ala295Val, NP_001339644.1:p.Ala331Val, NP_001339666.1:p.Ala218Val, NP_001339649.1:p.Ala331Val, NP_001339623.1:p.Ala331Val, NP_001339650.1:p.Ala331Val, NP_001339668.1:p.Ala218Val, NP_001339625.1:p.Ala218Val, NP_001339659.1:p.Ala218Val, NP_001339664.1:p.Ala197Val, NP_001339661.1:p.Ala218Val, NP_001339665.1:p.Ala230Val, NP_001339669.1:p.Ala218Val, NP_001339662.1:p.Ala218Val, NP_001339672.1:p.Ala218Val, NP_001339656.1:p.Ala331Val, NP_001339663.1:p.Ala218Val, NP_001339657.1:p.Ala295Val, NP_001303271.1:p.Ala218Val, NP_001339658.1:p.Ala295Val, NP_001339667.1:p.Ala218Val, NP_001339670.1:p.Ala218Val, NP_001339671.1:p.Ala197Val, NP_001339673.1:p.Ala182Val, NP_001339674.1:p.Ala182Val, NP_001339675.1:p.Ala161Val, NP_001339677.1:p.Ala331Val, NP_001374579.1:p.Ala375Val, NP_001374578.1:p.Ala375Val, NP_001374577.1:p.Ala375Val, NP_001374576.1:p.Ala331Val, NP_001374575.1:p.Ala375Val, NP_001374574.1:p.Ala331Val, NP_001374591.1:p.Ala375Val, NP_001374590.1:p.Ala375Val, NP_001374573.1:p.Ala344Val, NP_001374572.1:p.Ala375Val, NP_001374571.1:p.Ala331Val, NP_001374589.1:p.Ala375Val, NP_001374570.1:p.Ala344Val, NP_001374569.1:p.Ala331Val, NP_001374568.1:p.Ala331Val, NP_001374588.1:p.Ala331Val, NP_001374567.1:p.Ala331Val, NP_001374566.1:p.Ala331Val, NP_001374587.1:p.Ala331Val, NP_001374565.1:p.Ala331Val, NP_001374564.1:p.Ala182Val, NP_001374563.1:p.Ala331Val, NP_001374562.1:p.Ala331Val, NP_001374561.1:p.Ala331Val, NP_001374560.1:p.Ala295Val, NP_001374559.1:p.Ala157Val, NP_001374558.1:p.Ala17Val, NP_001374557.1:p.Ala331Val, NP_001374586.1:p.Ala331Val, NP_001374556.1:p.Ala331Val, NP_001374554.1:p.Ala331Val, NP_001374553.1:p.Ala295Val, NP_001374552.1:p.Ala218Val, NP_001374551.1:p.Ala331Val, NP_001374550.1:p.Ala17Val, NP_001374585.1:p.Ala331Val, NP_001374516.1:p.Ala331Val, NP_001374549.1:p.Ala218Val, NP_001374548.1:p.Ala295Val, NP_001374547.1:p.Ala218Val, NP_001374584.1:p.Ala331Val, NP_001374546.1:p.Ala17Val, NP_001374545.1:p.Ala17Val, NP_001374544.1:p.Ala295Val, NP_001374543.1:p.Ala331Val, NP_001374542.1:p.Ala218Val, NP_001374541.1:p.Ala218Val, NP_001374540.1:p.Ala218Val, NP_001374515.1:p.Ala331Val, NP_001374539.1:p.Ala157Val, NP_001374538.1:p.Ala218Val, NP_001374537.1:p.Ala218Val, NP_001374583.1:p.Ala218Val, NP_001374536.1:p.Ala218Val, NP_001374535.1:p.Ala218Val, NP_001374582.1:p.Ala295Val, NP_001374514.1:p.Ala331Val, NP_001374534.1:p.Ala218Val, NP_001374581.1:p.Ala218Val, NP_001374533.1:p.Ala17Val, NP_001374532.1:p.Ala218Val, NP_001374521.1:p.Ala17Val, NP_001374520.1:p.Ala218Val, NP_001374513.1:p.Ala218Val, NP_001374519.1:p.Ala182Val, XP_024302970.1:p.Ala382Val, XP_024302971.1:p.Ala382Val, XP_024302975.1:p.Ala382Val, XP_024302976.1:p.Ala346Val, XP_024302977.1:p.Ala346Val, XP_047278004.1:p.Ala230Val, XP_047277975.1:p.Ala375Val, XP_047277977.1:p.Ala375Val, XP_047277984.1:p.Ala375Val, XP_047277987.1:p.Ala375Val, XP_047277990.1:p.Ala375Val, XP_047277992.1:p.Ala375Val, XP_047277993.1:p.Ala375Val, XP_047277976.1:p.Ala375Val, XP_047278003.1:p.Ala339Val, XP_047277972.1:p.Ala382Val, XP_047277973.1:p.Ala382Val, XP_047277974.1:p.Ala382Val, XP_047277978.1:p.Ala382Val, XP_047278005.1:p.Ala331Val, XP_047277979.1:p.Ala382Val, XP_047277980.1:p.Ala382Val, XP_047277981.1:p.Ala382Val, XP_047277995.1:p.Ala331Val, XP_047278009.1:p.Ala331Val, XP_047277983.1:p.Ala382Val, XP_047277982.1:p.Ala382Val, XP_047277985.1:p.Ala382Val, XP_047277986.1:p.Ala382Val, XP_047277988.1:p.Ala346Val, XP_047278000.1:p.Ala344Val, XP_047277989.1:p.Ala382Val, XP_047277991.1:p.Ala382Val, XP_047277994.1:p.Ala382Val, XP_047277996.1:p.Ala382Val, XP_047277997.1:p.Ala382Val, XP_047277999.1:p.Ala382Val, XP_047278001.1:p.Ala346Val, XP_047278006.1:p.Ala218Val, XP_047278002.1:p.Ala346Val, XP_047278008.1:p.Ala218Val, XP_047278010.1:p.Ala218Val

        4.

        rs1487082018 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          8:140818326 (GRCh38)
          8:141828425 (GRCh37)
          Canonical SPDI:
          NC_000008.11:140818325:G:A
          Gene:
          PTK2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000007/1 (GnomAD)
          A=0.000011/3 (TOPMED)
          HGVS:
          NC_000008.11:g.140818326G>A, NC_000008.10:g.141828425G>A, NG_029467.2:g.187988C>T, NM_005607.5:c.884C>T, NM_005607.4:c.884C>T, NM_153831.4:c.818C>T, NM_153831.3:c.818C>T, NM_001352697.2:c.950C>T, NM_001352697.1:c.950C>T, NM_001352698.2:c.857C>T, NM_001352698.1:c.857C>T, NM_001352705.2:c.857C>T, NM_001352705.1:c.857C>T, NM_001352712.2:c.818C>T, NM_001352712.1:c.818C>T, NM_001352701.2:c.818C>T, NM_001352701.1:c.818C>T, NM_001352703.2:c.818C>T, NM_001352703.1:c.818C>T, NM_001352747.2:c.-822C>T, NM_001352747.1:c.-822C>T, NM_001352702.2:c.818C>T, NM_001352702.1:c.818C>T, NM_001352704.2:c.818C>T, NM_001352704.1:c.818C>T, NM_001352707.2:c.818C>T, NM_001352707.1:c.818C>T, NR_148037.2:n.1212C>T, NR_148037.1:n.1243C>T, NM_001352709.2:c.818C>T, NM_001352709.1:c.818C>T, NM_001352700.2:c.818C>T, NM_001352700.1:c.818C>T, NM_001352699.2:c.818C>T, NM_001352699.1:c.818C>T, NM_001352695.2:c.818C>T, NM_001352695.1:c.818C>T, NM_001199649.2:c.818C>T, NM_001199649.1:c.818C>T, NM_001352714.2:c.818C>T, NM_001352714.1:c.818C>T, NM_001352716.2:c.818C>T, NM_001352716.1:c.818C>T, NR_148036.2:n.1097C>T, NR_148036.1:n.1128C>T, NM_001352717.2:c.818C>T, NM_001352717.1:c.818C>T, NM_001352708.2:c.818C>T, NM_001352708.1:c.818C>T, NM_001352710.2:c.818C>T, NM_001352710.1:c.818C>T, NM_001352718.2:c.818C>T, NM_001352718.1:c.818C>T, NM_001352725.2:c.818C>T, NM_001352725.1:c.818C>T, NM_001352723.2:c.818C>T, NM_001352723.1:c.818C>T, NM_001352719.2:c.818C>T, NM_001352719.1:c.818C>T, NM_001352724.2:c.818C>T, NM_001352724.1:c.818C>T, NM_001352731.2:c.479C>T, NM_001352731.1:c.479C>T, NM_001352706.2:c.818C>T, NM_001352706.1:c.818C>T, NM_001352711.2:c.818C>T, NM_001352711.1:c.818C>T, NM_001352722.2:c.818C>T, NM_001352722.1:c.818C>T, NM_001352713.2:c.818C>T, NM_001352713.1:c.818C>T, NM_001352726.2:c.818C>T, NM_001352726.1:c.818C>T, NM_001352715.2:c.818C>T, NM_001352715.1:c.818C>T, NM_001352737.2:c.479C>T, NM_001352737.1:c.479C>T, NM_001352720.2:c.818C>T, NM_001352720.1:c.818C>T, NM_001352694.2:c.818C>T, NM_001352694.1:c.818C>T, NM_001352721.2:c.818C>T, NM_001352721.1:c.818C>T, NM_001352739.2:c.479C>T, NM_001352739.1:c.479C>T, NM_001352696.2:c.479C>T, NM_001352696.1:c.479C>T, NM_001352730.2:c.479C>T, NM_001352730.1:c.479C>T, NM_001352735.2:c.416C>T, NM_001352735.1:c.416C>T, NM_001352732.2:c.479C>T, NM_001352732.1:c.479C>T, NM_001352736.2:c.515C>T, NM_001352736.1:c.515C>T, NM_001352740.2:c.479C>T, NM_001352740.1:c.479C>T, NM_001352733.2:c.479C>T, NM_001352733.1:c.479C>T, NM_001352743.2:c.479C>T, NM_001352743.1:c.479C>T, NM_001352727.2:c.818C>T, NM_001352727.1:c.818C>T, NM_001352734.2:c.479C>T, NM_001352734.1:c.479C>T, NM_001352728.2:c.818C>T, NM_001352728.1:c.818C>T, NM_001316342.2:c.479C>T, NM_001316342.1:c.479C>T, NM_001352729.2:c.818C>T, NM_001352729.1:c.818C>T, NM_001352738.2:c.479C>T, NM_001352738.1:c.479C>T, NR_148038.2:n.930C>T, NR_148038.1:n.961C>T, NM_001352741.2:c.479C>T, NM_001352741.1:c.479C>T, NM_001352742.2:c.416C>T, NM_001352742.1:c.416C>T, NM_001352744.2:c.479C>T, NM_001352744.1:c.479C>T, NM_001352745.2:c.479C>T, NM_001352745.1:c.479C>T, NR_148039.2:n.930C>T, NR_148039.1:n.961C>T, NM_001352746.2:c.416C>T, NM_001352746.1:c.416C>T, NM_001352748.2:c.818C>T, NM_001352748.1:c.818C>T, NM_001387650.1:c.950C>T, NM_001387649.1:c.950C>T, NM_001387648.1:c.950C>T, NM_001387647.1:c.818C>T, NM_001387646.1:c.950C>T, NM_001387645.1:c.818C>T, NM_001387662.1:c.950C>T, NM_001387661.1:c.950C>T, NM_001387644.1:c.857C>T, NM_001387643.1:c.950C>T, NM_001387642.1:c.818C>T, NM_001387660.1:c.950C>T, NM_001387641.1:c.857C>T, NM_001387640.1:c.818C>T, NM_001387639.1:c.818C>T, NM_001387659.1:c.818C>T, NM_001387638.1:c.818C>T, NM_001387637.1:c.818C>T, NM_001387658.1:c.818C>T, NM_001387636.1:c.818C>T, NM_001387635.1:c.479C>T, NM_001387634.1:c.818C>T, NM_001387633.1:c.818C>T, NR_170673.1:n.1008C>T, NM_001387632.1:c.818C>T, NM_001387631.1:c.818C>T, NM_001387630.1:c.296C>T, NM_001387629.1:c.-125C>T, NM_001387628.1:c.818C>T, NM_001387657.1:c.818C>T, NM_001387627.1:c.818C>T, NM_001387625.1:c.818C>T, NM_001387624.1:c.818C>T, NM_001387623.1:c.479C>T, NM_001387622.1:c.818C>T, NM_001387621.1:c.-125C>T, NM_001387656.1:c.818C>T, NM_001387587.1:c.818C>T, NM_001387620.1:c.479C>T, NM_001387619.1:c.818C>T, NM_001387618.1:c.479C>T, NM_001387655.1:c.818C>T, NM_001387617.1:c.-125C>T, NM_001387616.1:c.-125C>T, NM_001387615.1:c.818C>T, NM_001387614.1:c.818C>T, NM_001387613.1:c.479C>T, NM_001387612.1:c.479C>T, NM_001387611.1:c.479C>T, NM_001387586.1:c.818C>T, NM_001387610.1:c.296C>T, NM_001387609.1:c.479C>T, NM_001387608.1:c.479C>T, NM_001387654.1:c.479C>T, NR_170672.1:n.1008C>T, NM_001387607.1:c.479C>T, NM_001387606.1:c.479C>T, NM_001387653.1:c.818C>T, NM_001387585.1:c.818C>T, NM_001387605.1:c.479C>T, NM_001387652.1:c.479C>T, NM_001387604.1:c.-125C>T, NM_001387603.1:c.479C>T, NM_001387592.1:c.-125C>T, NM_001387591.1:c.479C>T, NM_001387584.1:c.479C>T, NM_001387590.1:c.479C>T, NR_170671.1:n.841C>T, XM_024447202.2:c.971C>T, XM_024447202.1:c.971C>T, XM_024447203.2:c.971C>T, XM_024447203.1:c.971C>T, XM_024447207.2:c.971C>T, XM_024447207.1:c.971C>T, XM_024447208.2:c.971C>T, XM_024447208.1:c.971C>T, XM_024447209.2:c.971C>T, XM_024447209.1:c.971C>T, XM_047422048.1:c.515C>T, XM_047422019.1:c.950C>T, XM_047422021.1:c.950C>T, XM_047422028.1:c.950C>T, XM_047422031.1:c.950C>T, XM_047422034.1:c.950C>T, XM_047422036.1:c.950C>T, XM_047422037.1:c.950C>T, XM_047422020.1:c.950C>T, XM_047422047.1:c.950C>T, XM_047422016.1:c.971C>T, XM_047422017.1:c.971C>T, XM_047422018.1:c.971C>T, XM_047422022.1:c.971C>T, XM_047422049.1:c.818C>T, XM_047422023.1:c.971C>T, XM_047422024.1:c.971C>T, XM_047422025.1:c.971C>T, XM_047422039.1:c.818C>T, XM_047422053.1:c.818C>T, XM_047422027.1:c.971C>T, XM_047422026.1:c.971C>T, XM_047422029.1:c.971C>T, XM_047422030.1:c.971C>T, XM_047422032.1:c.971C>T, XM_047422044.1:c.857C>T, XM_047422033.1:c.971C>T, XM_047422035.1:c.971C>T, XM_047422038.1:c.971C>T, XM_047422040.1:c.971C>T, XM_047422041.1:c.971C>T, XM_047422043.1:c.971C>T, XM_047422045.1:c.971C>T, XM_047422050.1:c.479C>T, XM_047422046.1:c.971C>T, XM_047422052.1:c.479C>T, XM_047422054.1:c.479C>T, NP_005598.3:p.Ala295Val, NP_722560.1:p.Ala273Val, NP_001339626.1:p.Ala317Val, NP_001339627.1:p.Ala286Val, NP_001339634.1:p.Ala286Val, NP_001339641.1:p.Ala273Val, NP_001339630.1:p.Ala273Val, NP_001339632.1:p.Ala273Val, NP_001339631.1:p.Ala273Val, NP_001339633.1:p.Ala273Val, NP_001339636.1:p.Ala273Val, NP_001339638.1:p.Ala273Val, NP_001339629.1:p.Ala273Val, NP_001339628.1:p.Ala273Val, NP_001339624.1:p.Ala273Val, NP_001186578.1:p.Ala273Val, NP_001339643.1:p.Ala273Val, NP_001339645.1:p.Ala273Val, NP_001339646.1:p.Ala273Val, NP_001339637.1:p.Ala273Val, NP_001339639.1:p.Ala273Val, NP_001339647.1:p.Ala273Val, NP_001339654.1:p.Ala273Val, NP_001339652.1:p.Ala273Val, NP_001339648.1:p.Ala273Val, NP_001339653.1:p.Ala273Val, NP_001339660.1:p.Ala160Val, NP_001339635.1:p.Ala273Val, NP_001339640.1:p.Ala273Val, NP_001339651.1:p.Ala273Val, NP_001339642.1:p.Ala273Val, NP_001339655.1:p.Ala273Val, NP_001339644.1:p.Ala273Val, NP_001339666.1:p.Ala160Val, NP_001339649.1:p.Ala273Val, NP_001339623.1:p.Ala273Val, NP_001339650.1:p.Ala273Val, NP_001339668.1:p.Ala160Val, NP_001339625.1:p.Ala160Val, NP_001339659.1:p.Ala160Val, NP_001339664.1:p.Ala139Val, NP_001339661.1:p.Ala160Val, NP_001339665.1:p.Ala172Val, NP_001339669.1:p.Ala160Val, NP_001339662.1:p.Ala160Val, NP_001339672.1:p.Ala160Val, NP_001339656.1:p.Ala273Val, NP_001339663.1:p.Ala160Val, NP_001339657.1:p.Ala273Val, NP_001303271.1:p.Ala160Val, NP_001339658.1:p.Ala273Val, NP_001339667.1:p.Ala160Val, NP_001339670.1:p.Ala160Val, NP_001339671.1:p.Ala139Val, NP_001339673.1:p.Ala160Val, NP_001339674.1:p.Ala160Val, NP_001339675.1:p.Ala139Val, NP_001339677.1:p.Ala273Val, NP_001374579.1:p.Ala317Val, NP_001374578.1:p.Ala317Val, NP_001374577.1:p.Ala317Val, NP_001374576.1:p.Ala273Val, NP_001374575.1:p.Ala317Val, NP_001374574.1:p.Ala273Val, NP_001374591.1:p.Ala317Val, NP_001374590.1:p.Ala317Val, NP_001374573.1:p.Ala286Val, NP_001374572.1:p.Ala317Val, NP_001374571.1:p.Ala273Val, NP_001374589.1:p.Ala317Val, NP_001374570.1:p.Ala286Val, NP_001374569.1:p.Ala273Val, NP_001374568.1:p.Ala273Val, NP_001374588.1:p.Ala273Val, NP_001374567.1:p.Ala273Val, NP_001374566.1:p.Ala273Val, NP_001374587.1:p.Ala273Val, NP_001374565.1:p.Ala273Val, NP_001374564.1:p.Ala160Val, NP_001374563.1:p.Ala273Val, NP_001374562.1:p.Ala273Val, NP_001374561.1:p.Ala273Val, NP_001374560.1:p.Ala273Val, NP_001374559.1:p.Ala99Val, NP_001374557.1:p.Ala273Val, NP_001374586.1:p.Ala273Val, NP_001374556.1:p.Ala273Val, NP_001374554.1:p.Ala273Val, NP_001374553.1:p.Ala273Val, NP_001374552.1:p.Ala160Val, NP_001374551.1:p.Ala273Val, NP_001374585.1:p.Ala273Val, NP_001374516.1:p.Ala273Val, NP_001374549.1:p.Ala160Val, NP_001374548.1:p.Ala273Val, NP_001374547.1:p.Ala160Val, NP_001374584.1:p.Ala273Val, NP_001374544.1:p.Ala273Val, NP_001374543.1:p.Ala273Val, NP_001374542.1:p.Ala160Val, NP_001374541.1:p.Ala160Val, NP_001374540.1:p.Ala160Val, NP_001374515.1:p.Ala273Val, NP_001374539.1:p.Ala99Val, NP_001374538.1:p.Ala160Val, NP_001374537.1:p.Ala160Val, NP_001374583.1:p.Ala160Val, NP_001374536.1:p.Ala160Val, NP_001374535.1:p.Ala160Val, NP_001374582.1:p.Ala273Val, NP_001374514.1:p.Ala273Val, NP_001374534.1:p.Ala160Val, NP_001374581.1:p.Ala160Val, NP_001374532.1:p.Ala160Val, NP_001374520.1:p.Ala160Val, NP_001374513.1:p.Ala160Val, NP_001374519.1:p.Ala160Val, XP_024302970.1:p.Ala324Val, XP_024302971.1:p.Ala324Val, XP_024302975.1:p.Ala324Val, XP_024302976.1:p.Ala324Val, XP_024302977.1:p.Ala324Val, XP_047278004.1:p.Ala172Val, XP_047277975.1:p.Ala317Val, XP_047277977.1:p.Ala317Val, XP_047277984.1:p.Ala317Val, XP_047277987.1:p.Ala317Val, XP_047277990.1:p.Ala317Val, XP_047277992.1:p.Ala317Val, XP_047277993.1:p.Ala317Val, XP_047277976.1:p.Ala317Val, XP_047278003.1:p.Ala317Val, XP_047277972.1:p.Ala324Val, XP_047277973.1:p.Ala324Val, XP_047277974.1:p.Ala324Val, XP_047277978.1:p.Ala324Val, XP_047278005.1:p.Ala273Val, XP_047277979.1:p.Ala324Val, XP_047277980.1:p.Ala324Val, XP_047277981.1:p.Ala324Val, XP_047277995.1:p.Ala273Val, XP_047278009.1:p.Ala273Val, XP_047277983.1:p.Ala324Val, XP_047277982.1:p.Ala324Val, XP_047277985.1:p.Ala324Val, XP_047277986.1:p.Ala324Val, XP_047277988.1:p.Ala324Val, XP_047278000.1:p.Ala286Val, XP_047277989.1:p.Ala324Val, XP_047277991.1:p.Ala324Val, XP_047277994.1:p.Ala324Val, XP_047277996.1:p.Ala324Val, XP_047277997.1:p.Ala324Val, XP_047277999.1:p.Ala324Val, XP_047278001.1:p.Ala324Val, XP_047278006.1:p.Ala160Val, XP_047278002.1:p.Ala324Val, XP_047278008.1:p.Ala160Val, XP_047278010.1:p.Ala160Val

          5.

          rs1483757610 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            8:140702667 (GRCh38)
            8:141712766 (GRCh37)
            Canonical SPDI:
            NC_000008.11:140702666:G:A
            Gene:
            PTK2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.00008/1 (ALFA)
            HGVS:
            NC_000008.11:g.140702667G>A, NC_000008.10:g.141712766G>A, NG_029467.2:g.303647C>T, NM_005607.5:c.2336C>T, NM_005607.4:c.2336C>T, NM_153831.4:c.2270C>T, NM_153831.3:c.2270C>T, NM_001352697.2:c.2525C>T, NM_001352697.1:c.2525C>T, NM_001352698.2:c.2432C>T, NM_001352698.1:c.2432C>T, NM_001352705.2:c.2348C>T, NM_001352705.1:c.2348C>T, NM_001352712.2:c.2393C>T, NM_001352712.1:c.2393C>T, NM_001352701.2:c.2393C>T, NM_001352701.1:c.2393C>T, NM_001352703.2:c.2393C>T, NM_001352703.1:c.2393C>T, NM_001352747.2:c.848C>T, NM_001352747.1:c.848C>T, NM_001352702.2:c.2393C>T, NM_001352702.1:c.2393C>T, NM_001352704.2:c.2372C>T, NM_001352704.1:c.2372C>T, NM_001352707.2:c.2309C>T, NM_001352707.1:c.2309C>T, NR_148037.2:n.2591C>T, NR_148037.1:n.2622C>T, NM_001352709.2:c.2309C>T, NM_001352709.1:c.2309C>T, NM_001352700.2:c.2393C>T, NM_001352700.1:c.2393C>T, NM_001352699.2:c.2393C>T, NM_001352699.1:c.2393C>T, NM_001352695.2:c.2372C>T, NM_001352695.1:c.2372C>T, NM_001199649.2:c.2270C>T, NM_001199649.1:c.2270C>T, NM_001352714.2:c.2291C>T, NM_001352714.1:c.2291C>T, NM_001352716.2:c.2285C>T, NM_001352716.1:c.2285C>T, NR_148036.2:n.2560C>T, NR_148036.1:n.2591C>T, NM_001352717.2:c.2288C>T, NM_001352717.1:c.2288C>T, NM_001352708.2:c.2309C>T, NM_001352708.1:c.2309C>T, NM_001352710.2:c.2309C>T, NM_001352710.1:c.2309C>T, NM_001352718.2:c.2270C>T, NM_001352718.1:c.2270C>T, NM_001352725.2:c.2270C>T, NM_001352725.1:c.2270C>T, NM_001352723.2:c.2309C>T, NM_001352723.1:c.2309C>T, NM_001352719.2:c.2270C>T, NM_001352719.1:c.2270C>T, NM_001352724.2:c.2309C>T, NM_001352724.1:c.2309C>T, NM_001352731.2:c.2054C>T, NM_001352731.1:c.2054C>T, NM_001352706.2:c.2309C>T, NM_001352706.1:c.2309C>T, NM_001352711.2:c.2306C>T, NM_001352711.1:c.2306C>T, NM_001352722.2:c.2309C>T, NM_001352722.1:c.2309C>T, NM_001352713.2:c.2291C>T, NM_001352713.1:c.2291C>T, NM_001352726.2:c.2201C>T, NM_001352726.1:c.2201C>T, NM_001352715.2:c.2288C>T, NM_001352715.1:c.2288C>T, NM_001352737.2:c.2033C>T, NM_001352737.1:c.2033C>T, NM_001352720.2:c.2270C>T, NM_001352720.1:c.2270C>T, NM_001352694.2:c.2270C>T, NM_001352694.1:c.2270C>T, NM_001352721.2:c.2309C>T, NM_001352721.1:c.2309C>T, NM_001352739.2:c.1952C>T, NM_001352739.1:c.1952C>T, NM_001352696.2:c.1970C>T, NM_001352696.1:c.1970C>T, NM_001352730.2:c.2054C>T, NM_001352730.1:c.2054C>T, NM_001352735.2:c.1991C>T, NM_001352735.1:c.1991C>T, NM_001352732.2:c.2054C>T, NM_001352732.1:c.2054C>T, NM_001352736.2:c.1985C>T, NM_001352736.1:c.1985C>T, NM_001352740.2:c.1949C>T, NM_001352740.1:c.1949C>T, NM_001352733.2:c.2033C>T, NM_001352733.1:c.2033C>T, NM_001352743.2:c.1970C>T, NM_001352743.1:c.1970C>T, NM_001352727.2:c.2309C>T, NM_001352727.1:c.2309C>T, NM_001352734.2:c.2054C>T, NM_001352734.1:c.2054C>T, NM_001352728.2:c.2162C>T, NM_001352728.1:c.2162C>T, NM_001316342.2:c.1970C>T, NM_001316342.1:c.1970C>T, NM_001352729.2:c.2201C>T, NM_001352729.1:c.2201C>T, NM_001352738.2:c.1970C>T, NM_001352738.1:c.1970C>T, NR_148038.2:n.2309C>T, NR_148038.1:n.2340C>T, NM_001352741.2:c.1931C>T, NM_001352741.1:c.1931C>T, NM_001352742.2:c.1907C>T, NM_001352742.1:c.1907C>T, NM_001352744.2:c.1862C>T, NM_001352744.1:c.1862C>T, NM_001352745.2:c.1844C>T, NM_001352745.1:c.1844C>T, NR_148039.2:n.2201C>T, NR_148039.1:n.2232C>T, NM_001352746.2:c.1799C>T, NM_001352746.1:c.1799C>T, NM_001352749.2:c.200C>T, NM_001352749.1:c.200C>T, NM_001352750.2:c.200C>T, NM_001352750.1:c.200C>T, NM_001352751.2:c.200C>T, NM_001352751.1:c.200C>T, NM_001352752.2:c.200C>T, NM_001352752.1:c.200C>T, NM_001387650.1:c.2402C>T, NM_001387649.1:c.2441C>T, NM_001387648.1:c.2402C>T, NM_001387647.1:c.2270C>T, NM_001387646.1:c.2402C>T, NM_001387645.1:c.2270C>T, NM_001387662.1:c.2402C>T, NM_001387661.1:c.2402C>T, NM_001387644.1:c.2411C>T, NM_001387643.1:c.2402C>T, NM_001387642.1:c.2270C>T, NM_001387660.1:c.2402C>T, NM_001387641.1:c.2309C>T, NM_001387640.1:c.2393C>T, NM_001387639.1:c.2309C>T, NM_001387659.1:c.2270C>T, NM_001387638.1:c.2270C>T, NM_001387637.1:c.2270C>T, NM_001387658.1:c.2270C>T, NM_001387636.1:c.2270C>T, NM_001387635.1:c.1823C>T, NM_001387634.1:c.2288C>T, NM_001387633.1:c.2291C>T, NR_170673.1:n.2460C>T, NM_001387632.1:c.2270C>T, NM_001387631.1:c.2285C>T, NM_001387630.1:c.1748C>T, NM_001387629.1:c.1346C>T, NM_001387628.1:c.2270C>T, NM_001387657.1:c.2270C>T, NM_001387627.1:c.2288C>T, NM_001387625.1:c.2270C>T, NM_001387624.1:c.2285C>T, NM_001387623.1:c.1931C>T, NM_001387622.1:c.2288C>T, NM_001387621.1:c.1328C>T, NM_001387656.1:c.2270C>T, NM_001387587.1:c.2270C>T, NM_001387620.1:c.1970C>T, NM_001387619.1:c.2162C>T, NM_001387618.1:c.1931C>T, NM_001387655.1:c.2270C>T, NM_001387617.1:c.1328C>T, NM_001387616.1:c.1328C>T, NM_001387615.1:c.2201C>T, NM_001387614.1:c.2270C>T, NM_001387613.1:c.1931C>T, NM_001387612.1:c.1931C>T, NM_001387611.1:c.1949C>T, NM_001387586.1:c.2270C>T, NM_001387610.1:c.1748C>T, NM_001387609.1:c.1931C>T, NM_001387608.1:c.1931C>T, NM_001387654.1:c.1931C>T, NR_170672.1:n.2348C>T, NM_001387607.1:c.1970C>T, NM_001387606.1:c.1952C>T, NM_001387653.1:c.2162C>T, NM_001387585.1:c.2270C>T, NM_001387605.1:c.1931C>T, NM_001387652.1:c.1931C>T, NM_001387604.1:c.1328C>T, NM_001387603.1:c.1931C>T, NM_001387592.1:c.1328C>T, NM_001387591.1:c.1931C>T, NM_001387584.1:c.1931C>T, NM_001387590.1:c.1823C>T, NR_170671.1:n.2181C>T, XM_024447202.2:c.2444C>T, XM_024447202.1:c.2444C>T, XM_024447203.2:c.2441C>T, XM_024447203.1:c.2441C>T, XM_024447207.2:c.2423C>T, XM_024447207.1:c.2423C>T, XM_024447208.2:c.2354C>T, XM_024447208.1:c.2354C>T, XM_024447209.2:c.2336C>T, XM_024447209.1:c.2336C>T, XM_047422048.1:c.2090C>T, XM_047422019.1:c.2525C>T, XM_047422021.1:c.2525C>T, XM_047422028.1:c.2525C>T, XM_047422031.1:c.2441C>T, XM_047422034.1:c.2423C>T, XM_047422036.1:c.2423C>T, XM_047422037.1:c.2402C>T, XM_047422020.1:c.2525C>T, XM_047422047.1:c.2294C>T, XM_047422016.1:c.2546C>T, XM_047422017.1:c.2546C>T, XM_047422018.1:c.2525C>T, XM_047422022.1:c.2525C>T, XM_047422049.1:c.2393C>T, XM_047422023.1:c.2546C>T, XM_047422024.1:c.2546C>T, XM_047422025.1:c.2462C>T, XM_047422039.1:c.2393C>T, XM_047422053.1:c.2393C>T, XM_047422027.1:c.2525C>T, XM_047422026.1:c.2462C>T, XM_047422029.1:c.2444C>T, XM_047422030.1:c.2441C>T, XM_047422032.1:c.2438C>T, XM_047422044.1:c.2309C>T, XM_047422033.1:c.2423C>T, XM_047422035.1:c.2423C>T, XM_047422038.1:c.2462C>T, XM_047422040.1:c.2444C>T, XM_047422041.1:c.2441C>T, XM_047422043.1:c.2423C>T, XM_047422045.1:c.2315C>T, XM_047422050.1:c.2054C>T, XM_047422046.1:c.2354C>T, XM_047422052.1:c.2054C>T, XM_047422054.1:c.1952C>T, NP_005598.3:p.Ala779Val, NP_722560.1:p.Ala757Val, NP_001339626.1:p.Ala842Val, NP_001339627.1:p.Ala811Val, NP_001339634.1:p.Ala783Val, NP_001339641.1:p.Ala798Val, NP_001339630.1:p.Ala798Val, NP_001339632.1:p.Ala798Val, NP_001339676.1:p.Ala283Val, NP_001339631.1:p.Ala798Val, NP_001339633.1:p.Ala791Val, NP_001339636.1:p.Ala770Val, NP_001339638.1:p.Ala770Val, NP_001339629.1:p.Ala798Val, NP_001339628.1:p.Ala798Val, NP_001339624.1:p.Ala791Val, NP_001186578.1:p.Ala757Val, NP_001339643.1:p.Ala764Val, NP_001339645.1:p.Ala762Val, NP_001339646.1:p.Ala763Val, NP_001339637.1:p.Ala770Val, NP_001339639.1:p.Ala770Val, NP_001339647.1:p.Ala757Val, NP_001339654.1:p.Ala757Val, NP_001339652.1:p.Ala770Val, NP_001339648.1:p.Ala757Val, NP_001339653.1:p.Ala770Val, NP_001339660.1:p.Ala685Val, NP_001339635.1:p.Ala770Val, NP_001339640.1:p.Ala769Val, NP_001339651.1:p.Ala770Val, NP_001339642.1:p.Ala764Val, NP_001339655.1:p.Ala734Val, NP_001339644.1:p.Ala763Val, NP_001339666.1:p.Ala678Val, NP_001339649.1:p.Ala757Val, NP_001339623.1:p.Ala757Val, NP_001339650.1:p.Ala770Val, NP_001339668.1:p.Ala651Val, NP_001339625.1:p.Ala657Val, NP_001339659.1:p.Ala685Val, NP_001339664.1:p.Ala664Val, NP_001339661.1:p.Ala685Val, NP_001339665.1:p.Ala662Val, NP_001339669.1:p.Ala650Val, NP_001339662.1:p.Ala678Val, NP_001339672.1:p.Ala657Val, NP_001339656.1:p.Ala770Val, NP_001339663.1:p.Ala685Val, NP_001339657.1:p.Ala721Val, NP_001303271.1:p.Ala657Val, NP_001339658.1:p.Ala734Val, NP_001339667.1:p.Ala657Val, NP_001339670.1:p.Ala644Val, NP_001339671.1:p.Ala636Val, NP_001339673.1:p.Ala621Val, NP_001339674.1:p.Ala615Val, NP_001339675.1:p.Ala600Val, NP_001339678.1:p.Ala67Val, NP_001339679.1:p.Ala67Val, NP_001339680.1:p.Ala67Val, NP_001339681.1:p.Ala67Val, NP_001374579.1:p.Ala801Val, NP_001374578.1:p.Ala814Val, NP_001374577.1:p.Ala801Val, NP_001374576.1:p.Ala757Val, NP_001374575.1:p.Ala801Val, NP_001374574.1:p.Ala757Val, NP_001374591.1:p.Ala801Val, NP_001374590.1:p.Ala801Val, NP_001374573.1:p.Ala804Val, NP_001374572.1:p.Ala801Val, NP_001374571.1:p.Ala757Val, NP_001374589.1:p.Ala801Val, NP_001374570.1:p.Ala770Val, NP_001374569.1:p.Ala798Val, NP_001374568.1:p.Ala770Val, NP_001374588.1:p.Ala757Val, NP_001374567.1:p.Ala757Val, NP_001374566.1:p.Ala757Val, NP_001374587.1:p.Ala757Val, NP_001374565.1:p.Ala757Val, NP_001374564.1:p.Ala608Val, NP_001374563.1:p.Ala763Val, NP_001374562.1:p.Ala764Val, NP_001374561.1:p.Ala757Val, NP_001374560.1:p.Ala762Val, NP_001374559.1:p.Ala583Val, NP_001374558.1:p.Ala449Val, NP_001374557.1:p.Ala757Val, NP_001374586.1:p.Ala757Val, NP_001374556.1:p.Ala763Val, NP_001374554.1:p.Ala757Val, NP_001374553.1:p.Ala762Val, NP_001374552.1:p.Ala644Val, NP_001374551.1:p.Ala763Val, NP_001374550.1:p.Ala443Val, NP_001374585.1:p.Ala757Val, NP_001374516.1:p.Ala757Val, NP_001374549.1:p.Ala657Val, NP_001374548.1:p.Ala721Val, NP_001374547.1:p.Ala644Val, NP_001374584.1:p.Ala757Val, NP_001374546.1:p.Ala443Val, NP_001374545.1:p.Ala443Val, NP_001374544.1:p.Ala734Val, NP_001374543.1:p.Ala757Val, NP_001374542.1:p.Ala644Val, NP_001374541.1:p.Ala644Val, NP_001374540.1:p.Ala650Val, NP_001374515.1:p.Ala757Val, NP_001374539.1:p.Ala583Val, NP_001374538.1:p.Ala644Val, NP_001374537.1:p.Ala644Val, NP_001374583.1:p.Ala644Val, NP_001374536.1:p.Ala657Val, NP_001374535.1:p.Ala651Val, NP_001374582.1:p.Ala721Val, NP_001374514.1:p.Ala757Val, NP_001374534.1:p.Ala644Val, NP_001374581.1:p.Ala644Val, NP_001374533.1:p.Ala443Val, NP_001374532.1:p.Ala644Val, NP_001374521.1:p.Ala443Val, NP_001374520.1:p.Ala644Val, NP_001374513.1:p.Ala644Val, NP_001374519.1:p.Ala608Val, XP_024302970.1:p.Ala815Val, XP_024302971.1:p.Ala814Val, XP_024302975.1:p.Ala808Val, XP_024302976.1:p.Ala785Val, XP_024302977.1:p.Ala779Val, XP_047278004.1:p.Ala697Val, XP_047277975.1:p.Ala842Val, XP_047277977.1:p.Ala842Val, XP_047277984.1:p.Ala842Val, XP_047277987.1:p.Ala814Val, XP_047277990.1:p.Ala808Val, XP_047277992.1:p.Ala808Val, XP_047277993.1:p.Ala801Val, XP_047277976.1:p.Ala842Val, XP_047278003.1:p.Ala765Val, XP_047277972.1:p.Ala849Val, XP_047277973.1:p.Ala849Val, XP_047277974.1:p.Ala842Val, XP_047277978.1:p.Ala842Val, XP_047278005.1:p.Ala798Val, XP_047277979.1:p.Ala849Val, XP_047277980.1:p.Ala849Val, XP_047277981.1:p.Ala821Val, XP_047277995.1:p.Ala798Val, XP_047278009.1:p.Ala798Val, XP_047277983.1:p.Ala842Val, XP_047277982.1:p.Ala821Val, XP_047277985.1:p.Ala815Val, XP_047277986.1:p.Ala814Val, XP_047277988.1:p.Ala813Val, XP_047278000.1:p.Ala770Val, XP_047277989.1:p.Ala808Val, XP_047277991.1:p.Ala808Val, XP_047277994.1:p.Ala821Val, XP_047277996.1:p.Ala815Val, XP_047277997.1:p.Ala814Val, XP_047277999.1:p.Ala808Val, XP_047278001.1:p.Ala772Val, XP_047278006.1:p.Ala685Val, XP_047278002.1:p.Ala785Val, XP_047278008.1:p.Ala685Val, XP_047278010.1:p.Ala651Val

            6.

            rs1483047978 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              8:140735301 (GRCh38)
              8:141745400 (GRCh37)
              Canonical SPDI:
              NC_000008.11:140735300:G:C
              Gene:
              PTK2 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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.140735301G>C, NC_000008.10:g.141745400G>C, NG_029467.2:g.271013C>G, NM_005607.5:c.2046C>G, NM_005607.4:c.2046C>G, NM_153831.4:c.1980C>G, NM_153831.3:c.1980C>G, NM_001352697.2:c.2235C>G, NM_001352697.1:c.2235C>G, NM_001352698.2:c.2142C>G, NM_001352698.1:c.2142C>G, NM_001352705.2:c.2058C>G, NM_001352705.1:c.2058C>G, NM_001352712.2:c.2103C>G, NM_001352712.1:c.2103C>G, NM_001352701.2:c.2103C>G, NM_001352701.1:c.2103C>G, NM_001352703.2:c.2103C>G, NM_001352703.1:c.2103C>G, NM_001352747.2:c.558C>G, NM_001352747.1:c.558C>G, NM_001352702.2:c.2103C>G, NM_001352702.1:c.2103C>G, NM_001352704.2:c.2082C>G, NM_001352704.1:c.2082C>G, NM_001352707.2:c.2019C>G, NM_001352707.1:c.2019C>G, NR_148037.2:n.2413C>G, NR_148037.1:n.2444C>G, NM_001352709.2:c.2019C>G, NM_001352709.1:c.2019C>G, NM_001352700.2:c.2103C>G, NM_001352700.1:c.2103C>G, NM_001352699.2:c.2103C>G, NM_001352699.1:c.2103C>G, NM_001352695.2:c.2082C>G, NM_001352695.1:c.2082C>G, NM_001199649.2:c.1980C>G, NM_001199649.1:c.1980C>G, NM_001352714.2:c.2001C>G, NM_001352714.1:c.2001C>G, NM_001352716.2:c.1995C>G, NM_001352716.1:c.1995C>G, NR_148036.2:n.2382C>G, NR_148036.1:n.2413C>G, NM_001352717.2:c.1998C>G, NM_001352717.1:c.1998C>G, NM_001352708.2:c.2019C>G, NM_001352708.1:c.2019C>G, NM_001352710.2:c.2019C>G, NM_001352710.1:c.2019C>G, NM_001352718.2:c.1980C>G, NM_001352718.1:c.1980C>G, NM_001352725.2:c.1980C>G, NM_001352725.1:c.1980C>G, NM_001352723.2:c.2019C>G, NM_001352723.1:c.2019C>G, NM_001352719.2:c.1980C>G, NM_001352719.1:c.1980C>G, NM_001352724.2:c.2019C>G, NM_001352724.1:c.2019C>G, NM_001352731.2:c.1764C>G, NM_001352731.1:c.1764C>G, NM_001352706.2:c.2019C>G, NM_001352706.1:c.2019C>G, NM_001352711.2:c.2016C>G, NM_001352711.1:c.2016C>G, NM_001352722.2:c.2019C>G, NM_001352722.1:c.2019C>G, NM_001352713.2:c.2001C>G, NM_001352713.1:c.2001C>G, NM_001352726.2:c.1911C>G, NM_001352726.1:c.1911C>G, NM_001352715.2:c.1998C>G, NM_001352715.1:c.1998C>G, NM_001352737.2:c.1743C>G, NM_001352737.1:c.1743C>G, NM_001352720.2:c.1980C>G, NM_001352720.1:c.1980C>G, NM_001352694.2:c.1980C>G, NM_001352694.1:c.1980C>G, NM_001352721.2:c.2019C>G, NM_001352721.1:c.2019C>G, NM_001352739.2:c.1662C>G, NM_001352739.1:c.1662C>G, NM_001352696.2:c.1680C>G, NM_001352696.1:c.1680C>G, NM_001352730.2:c.1764C>G, NM_001352730.1:c.1764C>G, NM_001352735.2:c.1701C>G, NM_001352735.1:c.1701C>G, NM_001352732.2:c.1764C>G, NM_001352732.1:c.1764C>G, NM_001352736.2:c.1695C>G, NM_001352736.1:c.1695C>G, NM_001352740.2:c.1659C>G, NM_001352740.1:c.1659C>G, NM_001352733.2:c.1743C>G, NM_001352733.1:c.1743C>G, NM_001352743.2:c.1680C>G, NM_001352743.1:c.1680C>G, NM_001352727.2:c.2019C>G, NM_001352727.1:c.2019C>G, NM_001352734.2:c.1764C>G, NM_001352734.1:c.1764C>G, NM_001352728.2:c.1872C>G, NM_001352728.1:c.1872C>G, NM_001316342.2:c.1680C>G, NM_001316342.1:c.1680C>G, NM_001352729.2:c.1911C>G, NM_001352729.1:c.1911C>G, NM_001352738.2:c.1680C>G, NM_001352738.1:c.1680C>G, NR_148038.2:n.2131C>G, NR_148038.1:n.2162C>G, NM_001352741.2:c.1641C>G, NM_001352741.1:c.1641C>G, NM_001352742.2:c.1617C>G, NM_001352742.1:c.1617C>G, NM_001352744.2:c.1572C>G, NM_001352744.1:c.1572C>G, NM_001352745.2:c.1554C>G, NM_001352745.1:c.1554C>G, NR_148039.2:n.2023C>G, NR_148039.1:n.2054C>G, NM_001352746.2:c.1509C>G, NM_001352746.1:c.1509C>G, NM_001387650.1:c.2112C>G, NM_001387649.1:c.2151C>G, NM_001387648.1:c.2112C>G, NM_001387647.1:c.1980C>G, NM_001387646.1:c.2112C>G, NM_001387645.1:c.1980C>G, NM_001387662.1:c.2112C>G, NM_001387661.1:c.2112C>G, NM_001387644.1:c.2121C>G, NM_001387643.1:c.2112C>G, NM_001387642.1:c.1980C>G, NM_001387660.1:c.2112C>G, NM_001387641.1:c.2019C>G, NM_001387640.1:c.2103C>G, NM_001387639.1:c.2019C>G, NM_001387659.1:c.1980C>G, NM_001387638.1:c.1980C>G, NM_001387637.1:c.1980C>G, NM_001387658.1:c.1980C>G, NM_001387636.1:c.1980C>G, NM_001387635.1:c.1533C>G, NM_001387634.1:c.1998C>G, NM_001387633.1:c.2001C>G, NR_170673.1:n.2170C>G, NM_001387632.1:c.1980C>G, NM_001387631.1:c.1995C>G, NM_001387630.1:c.1458C>G, NM_001387629.1:c.1056C>G, NM_001387628.1:c.1980C>G, NM_001387657.1:c.1980C>G, NM_001387627.1:c.1998C>G, NM_001387625.1:c.1980C>G, NM_001387624.1:c.1995C>G, NM_001387623.1:c.1641C>G, NM_001387622.1:c.1998C>G, NM_001387621.1:c.1038C>G, NM_001387656.1:c.1980C>G, NM_001387587.1:c.1980C>G, NM_001387620.1:c.1680C>G, NM_001387619.1:c.1872C>G, NM_001387618.1:c.1641C>G, NM_001387655.1:c.1980C>G, NM_001387617.1:c.1038C>G, NM_001387616.1:c.1038C>G, NM_001387615.1:c.1911C>G, NM_001387614.1:c.1980C>G, NM_001387613.1:c.1641C>G, NM_001387612.1:c.1641C>G, NM_001387611.1:c.1659C>G, NM_001387586.1:c.1980C>G, NM_001387610.1:c.1458C>G, NM_001387609.1:c.1641C>G, NM_001387608.1:c.1641C>G, NM_001387654.1:c.1641C>G, NR_170672.1:n.2170C>G, NM_001387607.1:c.1680C>G, NM_001387606.1:c.1662C>G, NM_001387653.1:c.1872C>G, NM_001387585.1:c.1980C>G, NM_001387605.1:c.1641C>G, NM_001387652.1:c.1641C>G, NM_001387604.1:c.1038C>G, NM_001387603.1:c.1641C>G, NM_001387592.1:c.1038C>G, NM_001387591.1:c.1641C>G, NM_001387584.1:c.1641C>G, NM_001387590.1:c.1533C>G, NR_170671.1:n.2003C>G, XM_024447202.2:c.2154C>G, XM_024447202.1:c.2154C>G, XM_024447203.2:c.2151C>G, XM_024447203.1:c.2151C>G, XM_024447207.2:c.2133C>G, XM_024447207.1:c.2133C>G, XM_024447208.2:c.2064C>G, XM_024447208.1:c.2064C>G, XM_024447209.2:c.2046C>G, XM_024447209.1:c.2046C>G, XM_047422048.1:c.1800C>G, XM_047422019.1:c.2235C>G, XM_047422021.1:c.2235C>G, XM_047422028.1:c.2235C>G, XM_047422031.1:c.2151C>G, XM_047422034.1:c.2133C>G, XM_047422036.1:c.2133C>G, XM_047422037.1:c.2112C>G, XM_047422020.1:c.2235C>G, XM_047422047.1:c.2004C>G, XM_047422016.1:c.2256C>G, XM_047422017.1:c.2256C>G, XM_047422018.1:c.2235C>G, XM_047422022.1:c.2235C>G, XM_047422049.1:c.2103C>G, XM_047422023.1:c.2256C>G, XM_047422024.1:c.2256C>G, XM_047422025.1:c.2172C>G, XM_047422039.1:c.2103C>G, XM_047422053.1:c.2103C>G, XM_047422027.1:c.2235C>G, XM_047422026.1:c.2172C>G, XM_047422029.1:c.2154C>G, XM_047422030.1:c.2151C>G, XM_047422032.1:c.2148C>G, XM_047422044.1:c.2019C>G, XM_047422033.1:c.2133C>G, XM_047422035.1:c.2133C>G, XM_047422038.1:c.2172C>G, XM_047422040.1:c.2154C>G, XM_047422041.1:c.2151C>G, XM_047422043.1:c.2133C>G, XM_047422045.1:c.2025C>G, XM_047422050.1:c.1764C>G, XM_047422046.1:c.2064C>G, XM_047422052.1:c.1764C>G, XM_047422054.1:c.1662C>G

              7.

              rs1482399781 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                8:140668392 (GRCh38)
                8:141678491 (GRCh37)
                Canonical SPDI:
                NC_000008.11:140668391:A:C
                Gene:
                PTK2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000008.11:g.140668392A>C, NC_000008.10:g.141678491A>C, NG_029467.2:g.337922T>G, NM_005607.5:c.2808T>G, NM_005607.4:c.2808T>G, NM_153831.4:c.2742T>G, NM_153831.3:c.2742T>G, NM_001352697.2:c.2934T>G, NM_001352697.1:c.2934T>G, NM_001352698.2:c.2913T>G, NM_001352698.1:c.2913T>G, NM_001352705.2:c.2829T>G, NM_001352705.1:c.2829T>G, NM_001352712.2:c.2865T>G, NM_001352712.1:c.2865T>G, NM_001352701.2:c.2874T>G, NM_001352701.1:c.2874T>G, NM_001352703.2:c.2874T>G, NM_001352703.1:c.2874T>G, NM_001352747.2:c.1329T>G, NM_001352747.1:c.1329T>G, NM_001352702.2:c.2874T>G, NM_001352702.1:c.2874T>G, NM_001352704.2:c.2853T>G, NM_001352704.1:c.2853T>G, NM_001352707.2:c.2790T>G, NM_001352707.1:c.2790T>G, NR_148037.2:n.3072T>G, NR_148037.1:n.3103T>G, NM_001352709.2:c.2790T>G, NM_001352709.1:c.2790T>G, NM_001352700.2:c.2874T>G, NM_001352700.1:c.2874T>G, NM_001352699.2:c.2874T>G, NM_001352699.1:c.2874T>G, NM_001352695.2:c.2781T>G, NM_001352695.1:c.2781T>G, NM_001199649.2:c.2781T>G, NM_001199649.1:c.2781T>G, NM_001352714.2:c.2772T>G, NM_001352714.1:c.2772T>G, NM_001352716.2:c.2766T>G, NM_001352716.1:c.2766T>G, NR_148036.2:n.3041T>G, NR_148036.1:n.3072T>G, NM_001352717.2:c.2760T>G, NM_001352717.1:c.2760T>G, NM_001352708.2:c.2790T>G, NM_001352708.1:c.2790T>G, NM_001352710.2:c.2790T>G, NM_001352710.1:c.2790T>G, NM_001352718.2:c.2751T>G, NM_001352718.1:c.2751T>G, NM_001352725.2:c.2688T>G, NM_001352725.1:c.2688T>G, NM_001352723.2:c.2727T>G, NM_001352723.1:c.2727T>G, NM_001352719.2:c.2751T>G, NM_001352719.1:c.2751T>G, NM_001352724.2:c.2790T>G, NM_001352724.1:c.2790T>G, NM_001352731.2:c.2529T>G, NM_001352731.1:c.2529T>G, NM_001352706.2:c.2790T>G, NM_001352706.1:c.2790T>G, NM_001352711.2:c.2787T>G, NM_001352711.1:c.2787T>G, NM_001352722.2:c.2727T>G, NM_001352722.1:c.2727T>G, NM_001352713.2:c.2772T>G, NM_001352713.1:c.2772T>G, NM_001352726.2:c.2682T>G, NM_001352726.1:c.2682T>G, NM_001352715.2:c.2769T>G, NM_001352715.1:c.2769T>G, NM_001352737.2:c.2505T>G, NM_001352737.1:c.2505T>G, NM_001352720.2:c.2751T>G, NM_001352720.1:c.2751T>G, NM_001352694.2:c.2742T>G, NM_001352694.1:c.2742T>G, NM_001352721.2:c.2727T>G, NM_001352721.1:c.2727T>G, NM_001352739.2:c.2433T>G, NM_001352739.1:c.2433T>G, NM_001352696.2:c.2451T>G, NM_001352696.1:c.2451T>G, NM_001352730.2:c.2535T>G, NM_001352730.1:c.2535T>G, NM_001352735.2:c.2472T>G, NM_001352735.1:c.2472T>G, NM_001352732.2:c.2526T>G, NM_001352732.1:c.2526T>G, NM_001352736.2:c.2466T>G, NM_001352736.1:c.2466T>G, NM_001352740.2:c.2430T>G, NM_001352740.1:c.2430T>G, NM_001352733.2:c.2514T>G, NM_001352733.1:c.2514T>G, NM_001352743.2:c.2388T>G, NM_001352743.1:c.2388T>G, NM_001352727.2:c.2727T>G, NM_001352727.1:c.2727T>G, NM_001352734.2:c.2472T>G, NM_001352734.1:c.2472T>G, NM_001352728.2:c.2634T>G, NM_001352728.1:c.2634T>G, NM_001316342.2:c.2451T>G, NM_001316342.1:c.2451T>G, NM_001352729.2:c.2619T>G, NM_001352729.1:c.2619T>G, NM_001352738.2:c.2445T>G, NM_001352738.1:c.2445T>G, NR_148038.2:n.2790T>G, NR_148038.1:n.2821T>G, NM_001352741.2:c.2412T>G, NM_001352741.1:c.2412T>G, NM_001352742.2:c.2388T>G, NM_001352742.1:c.2388T>G, NM_001352744.2:c.2343T>G, NM_001352744.1:c.2343T>G, NM_001352745.2:c.2325T>G, NM_001352745.1:c.2325T>G, NR_148039.2:n.2682T>G, NR_148039.1:n.2713T>G, NM_001352746.2:c.2280T>G, NM_001352746.1:c.2280T>G, NM_001352749.2:c.681T>G, NM_001352749.1:c.681T>G, NM_001352750.2:c.672T>G, NM_001352750.1:c.672T>G, NM_001352751.2:c.618T>G, NM_001352751.1:c.618T>G, NM_001352752.2:c.609T>G, NM_001352752.1:c.609T>G, NM_001387650.1:c.2874T>G, NM_001387649.1:c.2922T>G, NM_001387648.1:c.2874T>G, NM_001387647.1:c.2742T>G, NM_001387646.1:c.2874T>G, NM_001387645.1:c.2742T>G, NM_001387662.1:c.2883T>G, NM_001387661.1:c.2874T>G, NM_001387644.1:c.2892T>G, NM_001387643.1:c.2874T>G, NM_001387642.1:c.2742T>G, NM_001387660.1:c.2874T>G, NM_001387641.1:c.2781T>G, NM_001387640.1:c.2811T>G, NM_001387639.1:c.2790T>G, NM_001387659.1:c.2751T>G, NM_001387638.1:c.2751T>G, NM_001387637.1:c.2742T>G, NM_001387658.1:c.2742T>G, NM_001387636.1:c.2742T>G, NM_001387635.1:c.2295T>G, NM_001387634.1:c.2769T>G, NM_001387633.1:c.2709T>G, NR_170673.1:n.3030T>G, NM_001387632.1:c.2679T>G, NM_001387631.1:c.2766T>G, NM_001387630.1:c.2220T>G, NM_001387629.1:c.1827T>G, NM_001387628.1:c.2742T>G, NM_001387657.1:c.2742T>G, NM_001387627.1:c.2697T>G, NM_001387625.1:c.2688T>G, NM_001387624.1:c.2766T>G, NM_001387623.1:c.2403T>G, NM_001387622.1:c.2760T>G, NM_001387621.1:c.1800T>G, NM_001387656.1:c.2688T>G, NM_001387587.1:c.2742T>G, NM_001387620.1:c.2451T>G, NM_001387619.1:c.2634T>G, NM_001387618.1:c.2403T>G, NM_001387655.1:c.2742T>G, NM_001387617.1:c.1800T>G, NM_001387616.1:c.1800T>G, NM_001387615.1:c.2682T>G, NM_001387614.1:c.2679T>G, NM_001387613.1:c.2412T>G, NM_001387612.1:c.2403T>G, NM_001387611.1:c.2421T>G, NM_001387586.1:c.2742T>G, NM_001387610.1:c.2220T>G, NM_001387609.1:c.2412T>G, NM_001387608.1:c.2403T>G, NM_001387654.1:c.2403T>G, NR_170672.1:n.2820T>G, NM_001387607.1:c.2442T>G, NM_001387606.1:c.2433T>G, NM_001387653.1:c.2634T>G, NM_001387585.1:c.2679T>G, NM_001387605.1:c.2403T>G, NM_001387652.1:c.2403T>G, NM_001387604.1:c.1809T>G, NM_001387603.1:c.2349T>G, NM_001387592.1:c.1800T>G, NM_001387591.1:c.2340T>G, NM_001387584.1:c.2403T>G, NM_001387590.1:c.2295T>G, NR_170671.1:n.2653T>G, XM_024447202.2:c.2916T>G, XM_024447202.1:c.2916T>G, XM_024447203.2:c.2913T>G, XM_024447203.1:c.2913T>G, XM_024447207.2:c.2841T>G, XM_024447207.1:c.2841T>G, XM_024447208.2:c.2835T>G, XM_024447208.1:c.2835T>G, XM_024447209.2:c.2817T>G, XM_024447209.1:c.2817T>G, XM_047422048.1:c.2571T>G, XM_047422019.1:c.3006T>G, XM_047422021.1:c.3006T>G, XM_047422028.1:c.2934T>G, XM_047422031.1:c.2922T>G, XM_047422034.1:c.2904T>G, XM_047422036.1:c.2895T>G, XM_047422037.1:c.2883T>G, XM_047422020.1:c.3006T>G, XM_047422047.1:c.2766T>G, XM_047422016.1:c.3027T>G, XM_047422017.1:c.3018T>G, XM_047422018.1:c.3006T>G, XM_047422022.1:c.2997T>G, XM_047422049.1:c.2874T>G, XM_047422023.1:c.2964T>G, XM_047422024.1:c.2955T>G, XM_047422025.1:c.2943T>G, XM_047422039.1:c.2874T>G, XM_047422053.1:c.2874T>G, XM_047422027.1:c.2934T>G, XM_047422026.1:c.2934T>G, XM_047422029.1:c.2925T>G, XM_047422030.1:c.2922T>G, XM_047422032.1:c.2919T>G, XM_047422044.1:c.2790T>G, XM_047422033.1:c.2904T>G, XM_047422035.1:c.2895T>G, XM_047422038.1:c.2880T>G, XM_047422040.1:c.2862T>G, XM_047422041.1:c.2850T>G, XM_047422043.1:c.2832T>G, XM_047422045.1:c.2787T>G, XM_047422050.1:c.2535T>G, XM_047422046.1:c.2772T>G, XM_047422052.1:c.2526T>G, XM_047422054.1:c.2433T>G

                8.

                rs1482317412 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  8:140803616 (GRCh38)
                  8:141813715 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:140803615:G:A
                  Gene:
                  PTK2 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000008.11:g.140803616G>A, NC_000008.10:g.141813715G>A, NG_029467.2:g.202698C>T, NM_005607.5:c.968C>T, NM_005607.4:c.968C>T, NM_153831.4:c.902C>T, NM_153831.3:c.902C>T, NM_001352697.2:c.1034C>T, NM_001352697.1:c.1034C>T, NM_001352698.2:c.941C>T, NM_001352698.1:c.941C>T, NM_001352705.2:c.941C>T, NM_001352705.1:c.941C>T, NM_001352712.2:c.902C>T, NM_001352712.1:c.902C>T, NM_001352701.2:c.902C>T, NM_001352701.1:c.902C>T, NM_001352703.2:c.902C>T, NM_001352703.1:c.902C>T, NM_001352747.2:c.-738C>T, NM_001352747.1:c.-738C>T, NM_001352702.2:c.902C>T, NM_001352702.1:c.902C>T, NM_001352704.2:c.902C>T, NM_001352704.1:c.902C>T, NM_001352707.2:c.902C>T, NM_001352707.1:c.902C>T, NR_148037.2:n.1296C>T, NR_148037.1:n.1327C>T, NM_001352709.2:c.902C>T, NM_001352709.1:c.902C>T, NM_001352700.2:c.902C>T, NM_001352700.1:c.902C>T, NM_001352699.2:c.902C>T, NM_001352699.1:c.902C>T, NM_001352695.2:c.902C>T, NM_001352695.1:c.902C>T, NM_001199649.2:c.902C>T, NM_001199649.1:c.902C>T, NM_001352714.2:c.902C>T, NM_001352714.1:c.902C>T, NR_148036.2:n.1181C>T, NR_148036.1:n.1212C>T, NM_001352717.2:c.902C>T, NM_001352717.1:c.902C>T, NM_001352708.2:c.902C>T, NM_001352708.1:c.902C>T, NM_001352710.2:c.902C>T, NM_001352710.1:c.902C>T, NM_001352718.2:c.902C>T, NM_001352718.1:c.902C>T, NM_001352725.2:c.902C>T, NM_001352725.1:c.902C>T, NM_001352723.2:c.902C>T, NM_001352723.1:c.902C>T, NM_001352719.2:c.902C>T, NM_001352719.1:c.902C>T, NM_001352724.2:c.902C>T, NM_001352724.1:c.902C>T, NM_001352731.2:c.563C>T, NM_001352731.1:c.563C>T, NM_001352706.2:c.902C>T, NM_001352706.1:c.902C>T, NM_001352711.2:c.902C>T, NM_001352711.1:c.902C>T, NM_001352722.2:c.902C>T, NM_001352722.1:c.902C>T, NM_001352713.2:c.902C>T, NM_001352713.1:c.902C>T, NM_001352715.2:c.902C>T, NM_001352715.1:c.902C>T, NM_001352737.2:c.563C>T, NM_001352737.1:c.563C>T, NM_001352720.2:c.902C>T, NM_001352720.1:c.902C>T, NM_001352694.2:c.902C>T, NM_001352694.1:c.902C>T, NM_001352721.2:c.902C>T, NM_001352721.1:c.902C>T, NM_001352739.2:c.563C>T, NM_001352739.1:c.563C>T, NM_001352696.2:c.563C>T, NM_001352696.1:c.563C>T, NM_001352730.2:c.563C>T, NM_001352730.1:c.563C>T, NM_001352735.2:c.500C>T, NM_001352735.1:c.500C>T, NM_001352732.2:c.563C>T, NM_001352732.1:c.563C>T, NM_001352736.2:c.599C>T, NM_001352736.1:c.599C>T, NM_001352740.2:c.563C>T, NM_001352740.1:c.563C>T, NM_001352733.2:c.563C>T, NM_001352733.1:c.563C>T, NM_001352743.2:c.563C>T, NM_001352743.1:c.563C>T, NM_001352727.2:c.902C>T, NM_001352727.1:c.902C>T, NM_001352734.2:c.563C>T, NM_001352734.1:c.563C>T, NM_001316342.2:c.563C>T, NM_001316342.1:c.563C>T, NM_001352738.2:c.563C>T, NM_001352738.1:c.563C>T, NR_148038.2:n.1014C>T, NR_148038.1:n.1045C>T, NM_001352741.2:c.563C>T, NM_001352741.1:c.563C>T, NM_001352742.2:c.500C>T, NM_001352742.1:c.500C>T, NM_001352748.2:c.902C>T, NM_001352748.1:c.902C>T, NM_001387650.1:c.1034C>T, NM_001387649.1:c.1034C>T, NM_001387648.1:c.1034C>T, NM_001387647.1:c.902C>T, NM_001387646.1:c.1034C>T, NM_001387645.1:c.902C>T, NM_001387662.1:c.1034C>T, NM_001387661.1:c.1034C>T, NM_001387644.1:c.941C>T, NM_001387643.1:c.1034C>T, NM_001387642.1:c.902C>T, NM_001387660.1:c.1034C>T, NM_001387641.1:c.941C>T, NM_001387640.1:c.902C>T, NM_001387639.1:c.902C>T, NM_001387659.1:c.902C>T, NM_001387638.1:c.902C>T, NM_001387637.1:c.902C>T, NM_001387658.1:c.902C>T, NM_001387636.1:c.902C>T, NM_001387634.1:c.902C>T, NM_001387633.1:c.902C>T, NR_170673.1:n.1092C>T, NM_001387632.1:c.902C>T, NM_001387630.1:c.380C>T, NM_001387629.1:c.-41C>T, NM_001387628.1:c.902C>T, NM_001387657.1:c.902C>T, NM_001387627.1:c.902C>T, NM_001387625.1:c.902C>T, NM_001387623.1:c.563C>T, NM_001387622.1:c.902C>T, NM_001387621.1:c.-41C>T, NM_001387656.1:c.902C>T, NM_001387587.1:c.902C>T, NM_001387620.1:c.563C>T, NM_001387618.1:c.563C>T, NM_001387655.1:c.902C>T, NM_001387617.1:c.-41C>T, NM_001387616.1:c.-41C>T, NM_001387614.1:c.902C>T, NM_001387613.1:c.563C>T, NM_001387612.1:c.563C>T, NM_001387611.1:c.563C>T, NM_001387586.1:c.902C>T, NM_001387610.1:c.380C>T, NM_001387609.1:c.563C>T, NM_001387608.1:c.563C>T, NM_001387654.1:c.563C>T, NR_170672.1:n.1092C>T, NM_001387607.1:c.563C>T, NM_001387606.1:c.563C>T, NM_001387585.1:c.902C>T, NM_001387605.1:c.563C>T, NM_001387652.1:c.563C>T, NM_001387604.1:c.-41C>T, NM_001387603.1:c.563C>T, NM_001387592.1:c.-41C>T, NM_001387591.1:c.563C>T, NM_001387584.1:c.563C>T, NR_170671.1:n.925C>T, XM_024447202.2:c.1055C>T, XM_024447202.1:c.1055C>T, XM_024447203.2:c.1055C>T, XM_024447203.1:c.1055C>T, XM_024447207.2:c.1055C>T, XM_024447207.1:c.1055C>T, XM_047422048.1:c.599C>T, XM_047422019.1:c.1034C>T, XM_047422021.1:c.1034C>T, XM_047422028.1:c.1034C>T, XM_047422031.1:c.1034C>T, XM_047422034.1:c.1034C>T, XM_047422036.1:c.1034C>T, XM_047422037.1:c.1034C>T, XM_047422020.1:c.1034C>T, XM_047422016.1:c.1055C>T, XM_047422017.1:c.1055C>T, XM_047422018.1:c.1055C>T, XM_047422022.1:c.1055C>T, XM_047422049.1:c.902C>T, XM_047422023.1:c.1055C>T, XM_047422024.1:c.1055C>T, XM_047422025.1:c.1055C>T, XM_047422039.1:c.902C>T, XM_047422053.1:c.902C>T, XM_047422027.1:c.1055C>T, XM_047422026.1:c.1055C>T, XM_047422029.1:c.1055C>T, XM_047422030.1:c.1055C>T, XM_047422044.1:c.941C>T, XM_047422033.1:c.1055C>T, XM_047422035.1:c.1055C>T, XM_047422038.1:c.1055C>T, XM_047422040.1:c.1055C>T, XM_047422041.1:c.1055C>T, XM_047422043.1:c.1055C>T, XM_047422050.1:c.563C>T, XM_047422052.1:c.563C>T, XM_047422054.1:c.563C>T, NP_005598.3:p.Thr323Ile, NP_722560.1:p.Thr301Ile, NP_001339626.1:p.Thr345Ile, NP_001339627.1:p.Thr314Ile, NP_001339634.1:p.Thr314Ile, NP_001339641.1:p.Thr301Ile, NP_001339630.1:p.Thr301Ile, NP_001339632.1:p.Thr301Ile, NP_001339631.1:p.Thr301Ile, NP_001339633.1:p.Thr301Ile, NP_001339636.1:p.Thr301Ile, NP_001339638.1:p.Thr301Ile, NP_001339629.1:p.Thr301Ile, NP_001339628.1:p.Thr301Ile, NP_001339624.1:p.Thr301Ile, NP_001186578.1:p.Thr301Ile, NP_001339643.1:p.Thr301Ile, NP_001339646.1:p.Thr301Ile, NP_001339637.1:p.Thr301Ile, NP_001339639.1:p.Thr301Ile, NP_001339647.1:p.Thr301Ile, NP_001339654.1:p.Thr301Ile, NP_001339652.1:p.Thr301Ile, NP_001339648.1:p.Thr301Ile, NP_001339653.1:p.Thr301Ile, NP_001339660.1:p.Thr188Ile, NP_001339635.1:p.Thr301Ile, NP_001339640.1:p.Thr301Ile, NP_001339651.1:p.Thr301Ile, NP_001339642.1:p.Thr301Ile, NP_001339644.1:p.Thr301Ile, NP_001339666.1:p.Thr188Ile, NP_001339649.1:p.Thr301Ile, NP_001339623.1:p.Thr301Ile, NP_001339650.1:p.Thr301Ile, NP_001339668.1:p.Thr188Ile, NP_001339625.1:p.Thr188Ile, NP_001339659.1:p.Thr188Ile, NP_001339664.1:p.Thr167Ile, NP_001339661.1:p.Thr188Ile, NP_001339665.1:p.Thr200Ile, NP_001339669.1:p.Thr188Ile, NP_001339662.1:p.Thr188Ile, NP_001339672.1:p.Thr188Ile, NP_001339656.1:p.Thr301Ile, NP_001339663.1:p.Thr188Ile, NP_001303271.1:p.Thr188Ile, NP_001339667.1:p.Thr188Ile, NP_001339670.1:p.Thr188Ile, NP_001339671.1:p.Thr167Ile, NP_001339677.1:p.Thr301Ile, NP_001374579.1:p.Thr345Ile, NP_001374578.1:p.Thr345Ile, NP_001374577.1:p.Thr345Ile, NP_001374576.1:p.Thr301Ile, NP_001374575.1:p.Thr345Ile, NP_001374574.1:p.Thr301Ile, NP_001374591.1:p.Thr345Ile, NP_001374590.1:p.Thr345Ile, NP_001374573.1:p.Thr314Ile, NP_001374572.1:p.Thr345Ile, NP_001374571.1:p.Thr301Ile, NP_001374589.1:p.Thr345Ile, NP_001374570.1:p.Thr314Ile, NP_001374569.1:p.Thr301Ile, NP_001374568.1:p.Thr301Ile, NP_001374588.1:p.Thr301Ile, NP_001374567.1:p.Thr301Ile, NP_001374566.1:p.Thr301Ile, NP_001374587.1:p.Thr301Ile, NP_001374565.1:p.Thr301Ile, NP_001374563.1:p.Thr301Ile, NP_001374562.1:p.Thr301Ile, NP_001374561.1:p.Thr301Ile, NP_001374559.1:p.Thr127Ile, NP_001374557.1:p.Thr301Ile, NP_001374586.1:p.Thr301Ile, NP_001374556.1:p.Thr301Ile, NP_001374554.1:p.Thr301Ile, NP_001374552.1:p.Thr188Ile, NP_001374551.1:p.Thr301Ile, NP_001374585.1:p.Thr301Ile, NP_001374516.1:p.Thr301Ile, NP_001374549.1:p.Thr188Ile, NP_001374547.1:p.Thr188Ile, NP_001374584.1:p.Thr301Ile, NP_001374543.1:p.Thr301Ile, NP_001374542.1:p.Thr188Ile, NP_001374541.1:p.Thr188Ile, NP_001374540.1:p.Thr188Ile, NP_001374515.1:p.Thr301Ile, NP_001374539.1:p.Thr127Ile, NP_001374538.1:p.Thr188Ile, NP_001374537.1:p.Thr188Ile, NP_001374583.1:p.Thr188Ile, NP_001374536.1:p.Thr188Ile, NP_001374535.1:p.Thr188Ile, NP_001374514.1:p.Thr301Ile, NP_001374534.1:p.Thr188Ile, NP_001374581.1:p.Thr188Ile, NP_001374532.1:p.Thr188Ile, NP_001374520.1:p.Thr188Ile, NP_001374513.1:p.Thr188Ile, XP_024302970.1:p.Thr352Ile, XP_024302971.1:p.Thr352Ile, XP_024302975.1:p.Thr352Ile, XP_047278004.1:p.Thr200Ile, XP_047277975.1:p.Thr345Ile, XP_047277977.1:p.Thr345Ile, XP_047277984.1:p.Thr345Ile, XP_047277987.1:p.Thr345Ile, XP_047277990.1:p.Thr345Ile, XP_047277992.1:p.Thr345Ile, XP_047277993.1:p.Thr345Ile, XP_047277976.1:p.Thr345Ile, XP_047277972.1:p.Thr352Ile, XP_047277973.1:p.Thr352Ile, XP_047277974.1:p.Thr352Ile, XP_047277978.1:p.Thr352Ile, XP_047278005.1:p.Thr301Ile, XP_047277979.1:p.Thr352Ile, XP_047277980.1:p.Thr352Ile, XP_047277981.1:p.Thr352Ile, XP_047277995.1:p.Thr301Ile, XP_047278009.1:p.Thr301Ile, XP_047277983.1:p.Thr352Ile, XP_047277982.1:p.Thr352Ile, XP_047277985.1:p.Thr352Ile, XP_047277986.1:p.Thr352Ile, XP_047278000.1:p.Thr314Ile, XP_047277989.1:p.Thr352Ile, XP_047277991.1:p.Thr352Ile, XP_047277994.1:p.Thr352Ile, XP_047277996.1:p.Thr352Ile, XP_047277997.1:p.Thr352Ile, XP_047277999.1:p.Thr352Ile, XP_047278006.1:p.Thr188Ile, XP_047278008.1:p.Thr188Ile, XP_047278010.1:p.Thr188Ile

                  9.

                  rs1482020051 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    8:140744731 (GRCh38)
                    8:141754830 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:140744730:C:A,NC_000008.11:140744730:C:G
                    Gene:
                    PTK2 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.0002/3 (ALFA)
                    A=0.00067/3 (Estonian)
                    HGVS:
                    NC_000008.11:g.140744731C>A, NC_000008.11:g.140744731C>G, NC_000008.10:g.141754830C>A, NC_000008.10:g.141754830C>G, NG_029467.2:g.261583G>T, NG_029467.2:g.261583G>C, NM_005607.5:c.1621G>T, NM_005607.5:c.1621G>C, NM_005607.4:c.1621G>T, NM_005607.4:c.1621G>C, NM_153831.4:c.1555G>T, NM_153831.4:c.1555G>C, NM_153831.3:c.1555G>T, NM_153831.3:c.1555G>C, NM_001352697.2:c.1810G>T, NM_001352697.2:c.1810G>C, NM_001352697.1:c.1810G>T, NM_001352697.1:c.1810G>C, NM_001352698.2:c.1717G>T, NM_001352698.2:c.1717G>C, NM_001352698.1:c.1717G>T, NM_001352698.1:c.1717G>C, NM_001352705.2:c.1633G>T, NM_001352705.2:c.1633G>C, NM_001352705.1:c.1633G>T, NM_001352705.1:c.1633G>C, NM_001352712.2:c.1678G>T, NM_001352712.2:c.1678G>C, NM_001352712.1:c.1678G>T, NM_001352712.1:c.1678G>C, NM_001352701.2:c.1678G>T, NM_001352701.2:c.1678G>C, NM_001352701.1:c.1678G>T, NM_001352701.1:c.1678G>C, NM_001352703.2:c.1678G>T, NM_001352703.2:c.1678G>C, NM_001352703.1:c.1678G>T, NM_001352703.1:c.1678G>C, NM_001352747.2:c.133G>T, NM_001352747.2:c.133G>C, NM_001352747.1:c.133G>T, NM_001352747.1:c.133G>C, NM_001352702.2:c.1678G>T, NM_001352702.2:c.1678G>C, NM_001352702.1:c.1678G>T, NM_001352702.1:c.1678G>C, NM_001352704.2:c.1657G>T, NM_001352704.2:c.1657G>C, NM_001352704.1:c.1657G>T, NM_001352704.1:c.1657G>C, NM_001352707.2:c.1594G>T, NM_001352707.2:c.1594G>C, NM_001352707.1:c.1594G>T, NM_001352707.1:c.1594G>C, NR_148037.2:n.1988G>T, NR_148037.2:n.1988G>C, NR_148037.1:n.2019G>T, NR_148037.1:n.2019G>C, NM_001352709.2:c.1594G>T, NM_001352709.2:c.1594G>C, NM_001352709.1:c.1594G>T, NM_001352709.1:c.1594G>C, NM_001352700.2:c.1678G>T, NM_001352700.2:c.1678G>C, NM_001352700.1:c.1678G>T, NM_001352700.1:c.1678G>C, NM_001352699.2:c.1678G>T, NM_001352699.2:c.1678G>C, NM_001352699.1:c.1678G>T, NM_001352699.1:c.1678G>C, NM_001352695.2:c.1657G>T, NM_001352695.2:c.1657G>C, NM_001352695.1:c.1657G>T, NM_001352695.1:c.1657G>C, NM_001199649.2:c.1555G>T, NM_001199649.2:c.1555G>C, NM_001199649.1:c.1555G>T, NM_001199649.1:c.1555G>C, NM_001352714.2:c.1576G>T, NM_001352714.2:c.1576G>C, NM_001352714.1:c.1576G>T, NM_001352714.1:c.1576G>C, NM_001352716.2:c.1570G>T, NM_001352716.2:c.1570G>C, NM_001352716.1:c.1570G>T, NM_001352716.1:c.1570G>C, NR_148036.2:n.1957G>T, NR_148036.2:n.1957G>C, NR_148036.1:n.1988G>T, NR_148036.1:n.1988G>C, NM_001352717.2:c.1573G>T, NM_001352717.2:c.1573G>C, NM_001352717.1:c.1573G>T, NM_001352717.1:c.1573G>C, NM_001352708.2:c.1594G>T, NM_001352708.2:c.1594G>C, NM_001352708.1:c.1594G>T, NM_001352708.1:c.1594G>C, NM_001352710.2:c.1594G>T, NM_001352710.2:c.1594G>C, NM_001352710.1:c.1594G>T, NM_001352710.1:c.1594G>C, NM_001352718.2:c.1555G>T, NM_001352718.2:c.1555G>C, NM_001352718.1:c.1555G>T, NM_001352718.1:c.1555G>C, NM_001352725.2:c.1555G>T, NM_001352725.2:c.1555G>C, NM_001352725.1:c.1555G>T, NM_001352725.1:c.1555G>C, NM_001352723.2:c.1594G>T, NM_001352723.2:c.1594G>C, NM_001352723.1:c.1594G>T, NM_001352723.1:c.1594G>C, NM_001352719.2:c.1555G>T, NM_001352719.2:c.1555G>C, NM_001352719.1:c.1555G>T, NM_001352719.1:c.1555G>C, NM_001352724.2:c.1594G>T, NM_001352724.2:c.1594G>C, NM_001352724.1:c.1594G>T, NM_001352724.1:c.1594G>C, NM_001352731.2:c.1339G>T, NM_001352731.2:c.1339G>C, NM_001352731.1:c.1339G>T, NM_001352731.1:c.1339G>C, NM_001352706.2:c.1594G>T, NM_001352706.2:c.1594G>C, NM_001352706.1:c.1594G>T, NM_001352706.1:c.1594G>C, NM_001352711.2:c.1591G>T, NM_001352711.2:c.1591G>C, NM_001352711.1:c.1591G>T, NM_001352711.1:c.1591G>C, NM_001352722.2:c.1594G>T, NM_001352722.2:c.1594G>C, NM_001352722.1:c.1594G>T, NM_001352722.1:c.1594G>C, NM_001352713.2:c.1576G>T, NM_001352713.2:c.1576G>C, NM_001352713.1:c.1576G>T, NM_001352713.1:c.1576G>C, NM_001352726.2:c.1486G>T, NM_001352726.2:c.1486G>C, NM_001352726.1:c.1486G>T, NM_001352726.1:c.1486G>C, NM_001352715.2:c.1573G>T, NM_001352715.2:c.1573G>C, NM_001352715.1:c.1573G>T, NM_001352715.1:c.1573G>C, NM_001352737.2:c.1318G>T, NM_001352737.2:c.1318G>C, NM_001352737.1:c.1318G>T, NM_001352737.1:c.1318G>C, NM_001352720.2:c.1555G>T, NM_001352720.2:c.1555G>C, NM_001352720.1:c.1555G>T, NM_001352720.1:c.1555G>C, NM_001352694.2:c.1555G>T, NM_001352694.2:c.1555G>C, NM_001352694.1:c.1555G>T, NM_001352694.1:c.1555G>C, NM_001352721.2:c.1594G>T, NM_001352721.2:c.1594G>C, NM_001352721.1:c.1594G>T, NM_001352721.1:c.1594G>C, NM_001352739.2:c.1237G>T, NM_001352739.2:c.1237G>C, NM_001352739.1:c.1237G>T, NM_001352739.1:c.1237G>C, NM_001352696.2:c.1255G>T, NM_001352696.2:c.1255G>C, NM_001352696.1:c.1255G>T, NM_001352696.1:c.1255G>C, NM_001352730.2:c.1339G>T, NM_001352730.2:c.1339G>C, NM_001352730.1:c.1339G>T, NM_001352730.1:c.1339G>C, NM_001352735.2:c.1276G>T, NM_001352735.2:c.1276G>C, NM_001352735.1:c.1276G>T, NM_001352735.1:c.1276G>C, NM_001352732.2:c.1339G>T, NM_001352732.2:c.1339G>C, NM_001352732.1:c.1339G>T, NM_001352732.1:c.1339G>C, NM_001352736.2:c.1270G>T, NM_001352736.2:c.1270G>C, NM_001352736.1:c.1270G>T, NM_001352736.1:c.1270G>C, NM_001352740.2:c.1234G>T, NM_001352740.2:c.1234G>C, NM_001352740.1:c.1234G>T, NM_001352740.1:c.1234G>C, NM_001352733.2:c.1318G>T, NM_001352733.2:c.1318G>C, NM_001352733.1:c.1318G>T, NM_001352733.1:c.1318G>C, NM_001352743.2:c.1255G>T, NM_001352743.2:c.1255G>C, NM_001352743.1:c.1255G>T, NM_001352743.1:c.1255G>C, NM_001352727.2:c.1594G>T, NM_001352727.2:c.1594G>C, NM_001352727.1:c.1594G>T, NM_001352727.1:c.1594G>C, NM_001352734.2:c.1339G>T, NM_001352734.2:c.1339G>C, NM_001352734.1:c.1339G>T, NM_001352734.1:c.1339G>C, NM_001352728.2:c.1447G>T, NM_001352728.2:c.1447G>C, NM_001352728.1:c.1447G>T, NM_001352728.1:c.1447G>C, NM_001316342.2:c.1255G>T, NM_001316342.2:c.1255G>C, NM_001316342.1:c.1255G>T, NM_001316342.1:c.1255G>C, NM_001352729.2:c.1486G>T, NM_001352729.2:c.1486G>C, NM_001352729.1:c.1486G>T, NM_001352729.1:c.1486G>C, NM_001352738.2:c.1255G>T, NM_001352738.2:c.1255G>C, NM_001352738.1:c.1255G>T, NM_001352738.1:c.1255G>C, NR_148038.2:n.1706G>T, NR_148038.2:n.1706G>C, NR_148038.1:n.1737G>T, NR_148038.1:n.1737G>C, NM_001352741.2:c.1216G>T, NM_001352741.2:c.1216G>C, NM_001352741.1:c.1216G>T, NM_001352741.1:c.1216G>C, NM_001352742.2:c.1192G>T, NM_001352742.2:c.1192G>C, NM_001352742.1:c.1192G>T, NM_001352742.1:c.1192G>C, NM_001352744.2:c.1147G>T, NM_001352744.2:c.1147G>C, NM_001352744.1:c.1147G>T, NM_001352744.1:c.1147G>C, NM_001352745.2:c.1129G>T, NM_001352745.2:c.1129G>C, NM_001352745.1:c.1129G>T, NM_001352745.1:c.1129G>C, NR_148039.2:n.1598G>T, NR_148039.2:n.1598G>C, NR_148039.1:n.1629G>T, NR_148039.1:n.1629G>C, NM_001352746.2:c.1084G>T, NM_001352746.2:c.1084G>C, NM_001352746.1:c.1084G>T, NM_001352746.1:c.1084G>C, NM_001387650.1:c.1687G>T, NM_001387650.1:c.1687G>C, NM_001387649.1:c.1726G>T, NM_001387649.1:c.1726G>C, NM_001387648.1:c.1687G>T, NM_001387648.1:c.1687G>C, NM_001387647.1:c.1555G>T, NM_001387647.1:c.1555G>C, NM_001387646.1:c.1687G>T, NM_001387646.1:c.1687G>C, NM_001387645.1:c.1555G>T, NM_001387645.1:c.1555G>C, NM_001387662.1:c.1687G>T, NM_001387662.1:c.1687G>C, NM_001387661.1:c.1687G>T, NM_001387661.1:c.1687G>C, NM_001387644.1:c.1696G>T, NM_001387644.1:c.1696G>C, NM_001387643.1:c.1687G>T, NM_001387643.1:c.1687G>C, NM_001387642.1:c.1555G>T, NM_001387642.1:c.1555G>C, NM_001387660.1:c.1687G>T, NM_001387660.1:c.1687G>C, NM_001387641.1:c.1594G>T, NM_001387641.1:c.1594G>C, NM_001387640.1:c.1678G>T, NM_001387640.1:c.1678G>C, NM_001387639.1:c.1594G>T, NM_001387639.1:c.1594G>C, NM_001387659.1:c.1555G>T, NM_001387659.1:c.1555G>C, NM_001387638.1:c.1555G>T, NM_001387638.1:c.1555G>C, NM_001387637.1:c.1555G>T, NM_001387637.1:c.1555G>C, NM_001387658.1:c.1555G>T, NM_001387658.1:c.1555G>C, NM_001387636.1:c.1555G>T, NM_001387636.1:c.1555G>C, NM_001387635.1:c.1108G>T, NM_001387635.1:c.1108G>C, NM_001387634.1:c.1573G>T, NM_001387634.1:c.1573G>C, NM_001387633.1:c.1576G>T, NM_001387633.1:c.1576G>C, NR_170673.1:n.1745G>T, NR_170673.1:n.1745G>C, NM_001387632.1:c.1555G>T, NM_001387632.1:c.1555G>C, NM_001387631.1:c.1570G>T, NM_001387631.1:c.1570G>C, NM_001387630.1:c.1033G>T, NM_001387630.1:c.1033G>C, NM_001387629.1:c.631G>T, NM_001387629.1:c.631G>C, NM_001387628.1:c.1555G>T, NM_001387628.1:c.1555G>C, NM_001387657.1:c.1555G>T, NM_001387657.1:c.1555G>C, NM_001387627.1:c.1573G>T, NM_001387627.1:c.1573G>C, NM_001387625.1:c.1555G>T, NM_001387625.1:c.1555G>C, NM_001387624.1:c.1570G>T, NM_001387624.1:c.1570G>C, NM_001387623.1:c.1216G>T, NM_001387623.1:c.1216G>C, NM_001387622.1:c.1573G>T, NM_001387622.1:c.1573G>C, NM_001387621.1:c.613G>T, NM_001387621.1:c.613G>C, NM_001387656.1:c.1555G>T, NM_001387656.1:c.1555G>C, NM_001387587.1:c.1555G>T, NM_001387587.1:c.1555G>C, NM_001387620.1:c.1255G>T, NM_001387620.1:c.1255G>C, NM_001387619.1:c.1447G>T, NM_001387619.1:c.1447G>C, NM_001387618.1:c.1216G>T, NM_001387618.1:c.1216G>C, NM_001387655.1:c.1555G>T, NM_001387655.1:c.1555G>C, NM_001387617.1:c.613G>T, NM_001387617.1:c.613G>C, NM_001387616.1:c.613G>T, NM_001387616.1:c.613G>C, NM_001387615.1:c.1486G>T, NM_001387615.1:c.1486G>C, NM_001387614.1:c.1555G>T, NM_001387614.1:c.1555G>C, NM_001387613.1:c.1216G>T, NM_001387613.1:c.1216G>C, NM_001387612.1:c.1216G>T, NM_001387612.1:c.1216G>C, NM_001387611.1:c.1234G>T, NM_001387611.1:c.1234G>C, NM_001387586.1:c.1555G>T, NM_001387586.1:c.1555G>C, NM_001387610.1:c.1033G>T, NM_001387610.1:c.1033G>C, NM_001387609.1:c.1216G>T, NM_001387609.1:c.1216G>C, NM_001387608.1:c.1216G>T, NM_001387608.1:c.1216G>C, NM_001387654.1:c.1216G>T, NM_001387654.1:c.1216G>C, NR_170672.1:n.1745G>T, NR_170672.1:n.1745G>C, NM_001387607.1:c.1255G>T, NM_001387607.1:c.1255G>C, NM_001387606.1:c.1237G>T, NM_001387606.1:c.1237G>C, NM_001387653.1:c.1447G>T, NM_001387653.1:c.1447G>C, NM_001387585.1:c.1555G>T, NM_001387585.1:c.1555G>C, NM_001387605.1:c.1216G>T, NM_001387605.1:c.1216G>C, NM_001387652.1:c.1216G>T, NM_001387652.1:c.1216G>C, NM_001387604.1:c.613G>T, NM_001387604.1:c.613G>C, NM_001387603.1:c.1216G>T, NM_001387603.1:c.1216G>C, NM_001387592.1:c.613G>T, NM_001387592.1:c.613G>C, NM_001387591.1:c.1216G>T, NM_001387591.1:c.1216G>C, NM_001387584.1:c.1216G>T, NM_001387584.1:c.1216G>C, NM_001387590.1:c.1108G>T, NM_001387590.1:c.1108G>C, NR_170671.1:n.1578G>T, NR_170671.1:n.1578G>C, XM_024447202.2:c.1729G>T, XM_024447202.2:c.1729G>C, XM_024447202.1:c.1729G>T, XM_024447202.1:c.1729G>C, XM_024447203.2:c.1726G>T, XM_024447203.2:c.1726G>C, XM_024447203.1:c.1726G>T, XM_024447203.1:c.1726G>C, XM_024447207.2:c.1708G>T, XM_024447207.2:c.1708G>C, XM_024447207.1:c.1708G>T, XM_024447207.1:c.1708G>C, XM_024447208.2:c.1639G>T, XM_024447208.2:c.1639G>C, XM_024447208.1:c.1639G>T, XM_024447208.1:c.1639G>C, XM_024447209.2:c.1621G>T, XM_024447209.2:c.1621G>C, XM_024447209.1:c.1621G>T, XM_024447209.1:c.1621G>C, XM_047422048.1:c.1375G>T, XM_047422048.1:c.1375G>C, XM_047422019.1:c.1810G>T, XM_047422019.1:c.1810G>C, XM_047422021.1:c.1810G>T, XM_047422021.1:c.1810G>C, XM_047422028.1:c.1810G>T, XM_047422028.1:c.1810G>C, XM_047422031.1:c.1726G>T, XM_047422031.1:c.1726G>C, XM_047422034.1:c.1708G>T, XM_047422034.1:c.1708G>C, XM_047422036.1:c.1708G>T, XM_047422036.1:c.1708G>C, XM_047422037.1:c.1687G>T, XM_047422037.1:c.1687G>C, XM_047422020.1:c.1810G>T, XM_047422020.1:c.1810G>C, XM_047422047.1:c.1579G>T, XM_047422047.1:c.1579G>C, XM_047422016.1:c.1831G>T, XM_047422016.1:c.1831G>C, XM_047422017.1:c.1831G>T, XM_047422017.1:c.1831G>C, XM_047422018.1:c.1810G>T, XM_047422018.1:c.1810G>C, XM_047422022.1:c.1810G>T, XM_047422022.1:c.1810G>C, XM_047422049.1:c.1678G>T, XM_047422049.1:c.1678G>C, XM_047422023.1:c.1831G>T, XM_047422023.1:c.1831G>C, XM_047422024.1:c.1831G>T, XM_047422024.1:c.1831G>C, XM_047422025.1:c.1747G>T, XM_047422025.1:c.1747G>C, XM_047422039.1:c.1678G>T, XM_047422039.1:c.1678G>C, XM_047422053.1:c.1678G>T, XM_047422053.1:c.1678G>C, XM_047422027.1:c.1810G>T, XM_047422027.1:c.1810G>C, XM_047422026.1:c.1747G>T, XM_047422026.1:c.1747G>C, XM_047422029.1:c.1729G>T, XM_047422029.1:c.1729G>C, XM_047422030.1:c.1726G>T, XM_047422030.1:c.1726G>C, XM_047422032.1:c.1723G>T, XM_047422032.1:c.1723G>C, XM_047422044.1:c.1594G>T, XM_047422044.1:c.1594G>C, XM_047422033.1:c.1708G>T, XM_047422033.1:c.1708G>C, XM_047422035.1:c.1708G>T, XM_047422035.1:c.1708G>C, XM_047422038.1:c.1747G>T, XM_047422038.1:c.1747G>C, XM_047422040.1:c.1729G>T, XM_047422040.1:c.1729G>C, XM_047422041.1:c.1726G>T, XM_047422041.1:c.1726G>C, XM_047422043.1:c.1708G>T, XM_047422043.1:c.1708G>C, XM_047422045.1:c.1600G>T, XM_047422045.1:c.1600G>C, XM_047422050.1:c.1339G>T, XM_047422050.1:c.1339G>C, XM_047422046.1:c.1639G>T, XM_047422046.1:c.1639G>C, XM_047422052.1:c.1339G>T, XM_047422052.1:c.1339G>C, XM_047422054.1:c.1237G>T, XM_047422054.1:c.1237G>C, NP_005598.3:p.Asp541Tyr, NP_005598.3:p.Asp541His, NP_722560.1:p.Asp519Tyr, NP_722560.1:p.Asp519His, NP_001339626.1:p.Asp604Tyr, NP_001339626.1:p.Asp604His, NP_001339627.1:p.Asp573Tyr, NP_001339627.1:p.Asp573His, NP_001339634.1:p.Asp545Tyr, NP_001339634.1:p.Asp545His, NP_001339641.1:p.Asp560Tyr, NP_001339641.1:p.Asp560His, NP_001339630.1:p.Asp560Tyr, NP_001339630.1:p.Asp560His, NP_001339632.1:p.Asp560Tyr, NP_001339632.1:p.Asp560His, NP_001339676.1:p.Asp45Tyr, NP_001339676.1:p.Asp45His, NP_001339631.1:p.Asp560Tyr, NP_001339631.1:p.Asp560His, NP_001339633.1:p.Asp553Tyr, NP_001339633.1:p.Asp553His, NP_001339636.1:p.Asp532Tyr, NP_001339636.1:p.Asp532His, NP_001339638.1:p.Asp532Tyr, NP_001339638.1:p.Asp532His, NP_001339629.1:p.Asp560Tyr, NP_001339629.1:p.Asp560His, NP_001339628.1:p.Asp560Tyr, NP_001339628.1:p.Asp560His, NP_001339624.1:p.Asp553Tyr, NP_001339624.1:p.Asp553His, NP_001186578.1:p.Asp519Tyr, NP_001186578.1:p.Asp519His, NP_001339643.1:p.Asp526Tyr, NP_001339643.1:p.Asp526His, NP_001339645.1:p.Asp524Tyr, NP_001339645.1:p.Asp524His, NP_001339646.1:p.Asp525Tyr, NP_001339646.1:p.Asp525His, NP_001339637.1:p.Asp532Tyr, NP_001339637.1:p.Asp532His, NP_001339639.1:p.Asp532Tyr, NP_001339639.1:p.Asp532His, NP_001339647.1:p.Asp519Tyr, NP_001339647.1:p.Asp519His, NP_001339654.1:p.Asp519Tyr, NP_001339654.1:p.Asp519His, NP_001339652.1:p.Asp532Tyr, NP_001339652.1:p.Asp532His, NP_001339648.1:p.Asp519Tyr, NP_001339648.1:p.Asp519His, NP_001339653.1:p.Asp532Tyr, NP_001339653.1:p.Asp532His, NP_001339660.1:p.Asp447Tyr, NP_001339660.1:p.Asp447His, NP_001339635.1:p.Asp532Tyr, NP_001339635.1:p.Asp532His, NP_001339640.1:p.Asp531Tyr, NP_001339640.1:p.Asp531His, NP_001339651.1:p.Asp532Tyr, NP_001339651.1:p.Asp532His, NP_001339642.1:p.Asp526Tyr, NP_001339642.1:p.Asp526His, NP_001339655.1:p.Asp496Tyr, NP_001339655.1:p.Asp496His, NP_001339644.1:p.Asp525Tyr, NP_001339644.1:p.Asp525His, NP_001339666.1:p.Asp440Tyr, NP_001339666.1:p.Asp440His, NP_001339649.1:p.Asp519Tyr, NP_001339649.1:p.Asp519His, NP_001339623.1:p.Asp519Tyr, NP_001339623.1:p.Asp519His, NP_001339650.1:p.Asp532Tyr, NP_001339650.1:p.Asp532His, NP_001339668.1:p.Asp413Tyr, NP_001339668.1:p.Asp413His, NP_001339625.1:p.Asp419Tyr, NP_001339625.1:p.Asp419His, NP_001339659.1:p.Asp447Tyr, NP_001339659.1:p.Asp447His, NP_001339664.1:p.Asp426Tyr, NP_001339664.1:p.Asp426His, NP_001339661.1:p.Asp447Tyr, NP_001339661.1:p.Asp447His, NP_001339665.1:p.Asp424Tyr, NP_001339665.1:p.Asp424His, NP_001339669.1:p.Asp412Tyr, NP_001339669.1:p.Asp412His, NP_001339662.1:p.Asp440Tyr, NP_001339662.1:p.Asp440His, NP_001339672.1:p.Asp419Tyr, NP_001339672.1:p.Asp419His, NP_001339656.1:p.Asp532Tyr, NP_001339656.1:p.Asp532His, NP_001339663.1:p.Asp447Tyr, NP_001339663.1:p.Asp447His, NP_001339657.1:p.Asp483Tyr, NP_001339657.1:p.Asp483His, NP_001303271.1:p.Asp419Tyr, NP_001303271.1:p.Asp419His, NP_001339658.1:p.Asp496Tyr, NP_001339658.1:p.Asp496His, NP_001339667.1:p.Asp419Tyr, NP_001339667.1:p.Asp419His, NP_001339670.1:p.Asp406Tyr, NP_001339670.1:p.Asp406His, NP_001339671.1:p.Asp398Tyr, NP_001339671.1:p.Asp398His, NP_001339673.1:p.Asp383Tyr, NP_001339673.1:p.Asp383His, NP_001339674.1:p.Asp377Tyr, NP_001339674.1:p.Asp377His, NP_001339675.1:p.Asp362Tyr, NP_001339675.1:p.Asp362His, NP_001374579.1:p.Asp563Tyr, NP_001374579.1:p.Asp563His, NP_001374578.1:p.Asp576Tyr, NP_001374578.1:p.Asp576His, NP_001374577.1:p.Asp563Tyr, NP_001374577.1:p.Asp563His, NP_001374576.1:p.Asp519Tyr, NP_001374576.1:p.Asp519His, NP_001374575.1:p.Asp563Tyr, NP_001374575.1:p.Asp563His, NP_001374574.1:p.Asp519Tyr, NP_001374574.1:p.Asp519His, NP_001374591.1:p.Asp563Tyr, NP_001374591.1:p.Asp563His, NP_001374590.1:p.Asp563Tyr, NP_001374590.1:p.Asp563His, NP_001374573.1:p.Asp566Tyr, NP_001374573.1:p.Asp566His, NP_001374572.1:p.Asp563Tyr, NP_001374572.1:p.Asp563His, NP_001374571.1:p.Asp519Tyr, NP_001374571.1:p.Asp519His, NP_001374589.1:p.Asp563Tyr, NP_001374589.1:p.Asp563His, NP_001374570.1:p.Asp532Tyr, NP_001374570.1:p.Asp532His, NP_001374569.1:p.Asp560Tyr, NP_001374569.1:p.Asp560His, NP_001374568.1:p.Asp532Tyr, NP_001374568.1:p.Asp532His, NP_001374588.1:p.Asp519Tyr, NP_001374588.1:p.Asp519His, NP_001374567.1:p.Asp519Tyr, NP_001374567.1:p.Asp519His, NP_001374566.1:p.Asp519Tyr, NP_001374566.1:p.Asp519His, NP_001374587.1:p.Asp519Tyr, NP_001374587.1:p.Asp519His, NP_001374565.1:p.Asp519Tyr, NP_001374565.1:p.Asp519His, NP_001374564.1:p.Asp370Tyr, NP_001374564.1:p.Asp370His, NP_001374563.1:p.Asp525Tyr, NP_001374563.1:p.Asp525His, NP_001374562.1:p.Asp526Tyr, NP_001374562.1:p.Asp526His, NP_001374561.1:p.Asp519Tyr, NP_001374561.1:p.Asp519His, NP_001374560.1:p.Asp524Tyr, NP_001374560.1:p.Asp524His, NP_001374559.1:p.Asp345Tyr, NP_001374559.1:p.Asp345His, NP_001374558.1:p.Asp211Tyr, NP_001374558.1:p.Asp211His, NP_001374557.1:p.Asp519Tyr, NP_001374557.1:p.Asp519His, NP_001374586.1:p.Asp519Tyr, NP_001374586.1:p.Asp519His, NP_001374556.1:p.Asp525Tyr, NP_001374556.1:p.Asp525His, NP_001374554.1:p.Asp519Tyr, NP_001374554.1:p.Asp519His, NP_001374553.1:p.Asp524Tyr, NP_001374553.1:p.Asp524His, NP_001374552.1:p.Asp406Tyr, NP_001374552.1:p.Asp406His, NP_001374551.1:p.Asp525Tyr, NP_001374551.1:p.Asp525His, NP_001374550.1:p.Asp205Tyr, NP_001374550.1:p.Asp205His, NP_001374585.1:p.Asp519Tyr, NP_001374585.1:p.Asp519His, NP_001374516.1:p.Asp519Tyr, NP_001374516.1:p.Asp519His, NP_001374549.1:p.Asp419Tyr, NP_001374549.1:p.Asp419His, NP_001374548.1:p.Asp483Tyr, NP_001374548.1:p.Asp483His, NP_001374547.1:p.Asp406Tyr, NP_001374547.1:p.Asp406His, NP_001374584.1:p.Asp519Tyr, NP_001374584.1:p.Asp519His, NP_001374546.1:p.Asp205Tyr, NP_001374546.1:p.Asp205His, NP_001374545.1:p.Asp205Tyr, NP_001374545.1:p.Asp205His, NP_001374544.1:p.Asp496Tyr, NP_001374544.1:p.Asp496His, NP_001374543.1:p.Asp519Tyr, NP_001374543.1:p.Asp519His, NP_001374542.1:p.Asp406Tyr, NP_001374542.1:p.Asp406His, NP_001374541.1:p.Asp406Tyr, NP_001374541.1:p.Asp406His, NP_001374540.1:p.Asp412Tyr, NP_001374540.1:p.Asp412His, NP_001374515.1:p.Asp519Tyr, NP_001374515.1:p.Asp519His, NP_001374539.1:p.Asp345Tyr, NP_001374539.1:p.Asp345His, NP_001374538.1:p.Asp406Tyr, NP_001374538.1:p.Asp406His, NP_001374537.1:p.Asp406Tyr, NP_001374537.1:p.Asp406His, NP_001374583.1:p.Asp406Tyr, NP_001374583.1:p.Asp406His, NP_001374536.1:p.Asp419Tyr, NP_001374536.1:p.Asp419His, NP_001374535.1:p.Asp413Tyr, NP_001374535.1:p.Asp413His, NP_001374582.1:p.Asp483Tyr, NP_001374582.1:p.Asp483His, NP_001374514.1:p.Asp519Tyr, NP_001374514.1:p.Asp519His, NP_001374534.1:p.Asp406Tyr, NP_001374534.1:p.Asp406His, NP_001374581.1:p.Asp406Tyr, NP_001374581.1:p.Asp406His, NP_001374533.1:p.Asp205Tyr, NP_001374533.1:p.Asp205His, NP_001374532.1:p.Asp406Tyr, NP_001374532.1:p.Asp406His, NP_001374521.1:p.Asp205Tyr, NP_001374521.1:p.Asp205His, NP_001374520.1:p.Asp406Tyr, NP_001374520.1:p.Asp406His, NP_001374513.1:p.Asp406Tyr, NP_001374513.1:p.Asp406His, NP_001374519.1:p.Asp370Tyr, NP_001374519.1:p.Asp370His, XP_024302970.1:p.Asp577Tyr, XP_024302970.1:p.Asp577His, XP_024302971.1:p.Asp576Tyr, XP_024302971.1:p.Asp576His, XP_024302975.1:p.Asp570Tyr, XP_024302975.1:p.Asp570His, XP_024302976.1:p.Asp547Tyr, XP_024302976.1:p.Asp547His, XP_024302977.1:p.Asp541Tyr, XP_024302977.1:p.Asp541His, XP_047278004.1:p.Asp459Tyr, XP_047278004.1:p.Asp459His, XP_047277975.1:p.Asp604Tyr, XP_047277975.1:p.Asp604His, XP_047277977.1:p.Asp604Tyr, XP_047277977.1:p.Asp604His, XP_047277984.1:p.Asp604Tyr, XP_047277984.1:p.Asp604His, XP_047277987.1:p.Asp576Tyr, XP_047277987.1:p.Asp576His, XP_047277990.1:p.Asp570Tyr, XP_047277990.1:p.Asp570His, XP_047277992.1:p.Asp570Tyr, XP_047277992.1:p.Asp570His, XP_047277993.1:p.Asp563Tyr, XP_047277993.1:p.Asp563His, XP_047277976.1:p.Asp604Tyr, XP_047277976.1:p.Asp604His, XP_047278003.1:p.Asp527Tyr, XP_047278003.1:p.Asp527His, XP_047277972.1:p.Asp611Tyr, XP_047277972.1:p.Asp611His, XP_047277973.1:p.Asp611Tyr, XP_047277973.1:p.Asp611His, XP_047277974.1:p.Asp604Tyr, XP_047277974.1:p.Asp604His, XP_047277978.1:p.Asp604Tyr, XP_047277978.1:p.Asp604His, XP_047278005.1:p.Asp560Tyr, XP_047278005.1:p.Asp560His, XP_047277979.1:p.Asp611Tyr, XP_047277979.1:p.Asp611His, XP_047277980.1:p.Asp611Tyr, XP_047277980.1:p.Asp611His, XP_047277981.1:p.Asp583Tyr, XP_047277981.1:p.Asp583His, XP_047277995.1:p.Asp560Tyr, XP_047277995.1:p.Asp560His, XP_047278009.1:p.Asp560Tyr, XP_047278009.1:p.Asp560His, XP_047277983.1:p.Asp604Tyr, XP_047277983.1:p.Asp604His, XP_047277982.1:p.Asp583Tyr, XP_047277982.1:p.Asp583His, XP_047277985.1:p.Asp577Tyr, XP_047277985.1:p.Asp577His, XP_047277986.1:p.Asp576Tyr, XP_047277986.1:p.Asp576His, XP_047277988.1:p.Asp575Tyr, XP_047277988.1:p.Asp575His, XP_047278000.1:p.Asp532Tyr, XP_047278000.1:p.Asp532His, XP_047277989.1:p.Asp570Tyr, XP_047277989.1:p.Asp570His, XP_047277991.1:p.Asp570Tyr, XP_047277991.1:p.Asp570His, XP_047277994.1:p.Asp583Tyr, XP_047277994.1:p.Asp583His, XP_047277996.1:p.Asp577Tyr, XP_047277996.1:p.Asp577His, XP_047277997.1:p.Asp576Tyr, XP_047277997.1:p.Asp576His, XP_047277999.1:p.Asp570Tyr, XP_047277999.1:p.Asp570His, XP_047278001.1:p.Asp534Tyr, XP_047278001.1:p.Asp534His, XP_047278006.1:p.Asp447Tyr, XP_047278006.1:p.Asp447His, XP_047278002.1:p.Asp547Tyr, XP_047278002.1:p.Asp547His, XP_047278008.1:p.Asp447Tyr, XP_047278008.1:p.Asp447His, XP_047278010.1:p.Asp413Tyr, XP_047278010.1:p.Asp413His

                    10.

                    rs1480779430 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:140700975 (GRCh38)
                      8:141711074 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:140700974:G:A
                      Gene:
                      PTK2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000008.11:g.140700975G>A, NC_000008.10:g.141711074G>A, NG_029467.2:g.305339C>T, NM_005607.5:c.2481C>T, NM_005607.4:c.2481C>T, NM_153831.4:c.2415C>T, NM_153831.3:c.2415C>T, NM_001352697.2:c.2670C>T, NM_001352697.1:c.2670C>T, NM_001352698.2:c.2577C>T, NM_001352698.1:c.2577C>T, NM_001352705.2:c.2493C>T, NM_001352705.1:c.2493C>T, NM_001352712.2:c.2538C>T, NM_001352712.1:c.2538C>T, NM_001352701.2:c.2538C>T, NM_001352701.1:c.2538C>T, NM_001352703.2:c.2538C>T, NM_001352703.1:c.2538C>T, NM_001352747.2:c.993C>T, NM_001352747.1:c.993C>T, NM_001352702.2:c.2538C>T, NM_001352702.1:c.2538C>T, NM_001352704.2:c.2517C>T, NM_001352704.1:c.2517C>T, NM_001352707.2:c.2454C>T, NM_001352707.1:c.2454C>T, NR_148037.2:n.2736C>T, NR_148037.1:n.2767C>T, NM_001352709.2:c.2454C>T, NM_001352709.1:c.2454C>T, NM_001352700.2:c.2538C>T, NM_001352700.1:c.2538C>T, NM_001352699.2:c.2538C>T, NM_001352699.1:c.2538C>T, NM_001352695.2:c.2517C>T, NM_001352695.1:c.2517C>T, NM_001199649.2:c.2415C>T, NM_001199649.1:c.2415C>T, NM_001352714.2:c.2436C>T, NM_001352714.1:c.2436C>T, NM_001352716.2:c.2430C>T, NM_001352716.1:c.2430C>T, NR_148036.2:n.2705C>T, NR_148036.1:n.2736C>T, NM_001352717.2:c.2433C>T, NM_001352717.1:c.2433C>T, NM_001352708.2:c.2454C>T, NM_001352708.1:c.2454C>T, NM_001352710.2:c.2454C>T, NM_001352710.1:c.2454C>T, NM_001352718.2:c.2415C>T, NM_001352718.1:c.2415C>T, NM_001352725.2:c.2415C>T, NM_001352725.1:c.2415C>T, NM_001352723.2:c.2454C>T, NM_001352723.1:c.2454C>T, NM_001352719.2:c.2415C>T, NM_001352719.1:c.2415C>T, NM_001352724.2:c.2454C>T, NM_001352724.1:c.2454C>T, NM_001352731.2:c.2199C>T, NM_001352731.1:c.2199C>T, NM_001352706.2:c.2454C>T, NM_001352706.1:c.2454C>T, NM_001352711.2:c.2451C>T, NM_001352711.1:c.2451C>T, NM_001352722.2:c.2454C>T, NM_001352722.1:c.2454C>T, NM_001352713.2:c.2436C>T, NM_001352713.1:c.2436C>T, NM_001352726.2:c.2346C>T, NM_001352726.1:c.2346C>T, NM_001352715.2:c.2433C>T, NM_001352715.1:c.2433C>T, NM_001352737.2:c.2178C>T, NM_001352737.1:c.2178C>T, NM_001352720.2:c.2415C>T, NM_001352720.1:c.2415C>T, NM_001352694.2:c.2415C>T, NM_001352694.1:c.2415C>T, NM_001352721.2:c.2454C>T, NM_001352721.1:c.2454C>T, NM_001352739.2:c.2097C>T, NM_001352739.1:c.2097C>T, NM_001352696.2:c.2115C>T, NM_001352696.1:c.2115C>T, NM_001352730.2:c.2199C>T, NM_001352730.1:c.2199C>T, NM_001352735.2:c.2136C>T, NM_001352735.1:c.2136C>T, NM_001352732.2:c.2199C>T, NM_001352732.1:c.2199C>T, NM_001352736.2:c.2130C>T, NM_001352736.1:c.2130C>T, NM_001352740.2:c.2094C>T, NM_001352740.1:c.2094C>T, NM_001352733.2:c.2178C>T, NM_001352733.1:c.2178C>T, NM_001352743.2:c.2115C>T, NM_001352743.1:c.2115C>T, NM_001352727.2:c.2454C>T, NM_001352727.1:c.2454C>T, NM_001352734.2:c.2199C>T, NM_001352734.1:c.2199C>T, NM_001352728.2:c.2307C>T, NM_001352728.1:c.2307C>T, NM_001316342.2:c.2115C>T, NM_001316342.1:c.2115C>T, NM_001352729.2:c.2346C>T, NM_001352729.1:c.2346C>T, NM_001352738.2:c.2115C>T, NM_001352738.1:c.2115C>T, NR_148038.2:n.2454C>T, NR_148038.1:n.2485C>T, NM_001352741.2:c.2076C>T, NM_001352741.1:c.2076C>T, NM_001352742.2:c.2052C>T, NM_001352742.1:c.2052C>T, NM_001352744.2:c.2007C>T, NM_001352744.1:c.2007C>T, NM_001352745.2:c.1989C>T, NM_001352745.1:c.1989C>T, NR_148039.2:n.2346C>T, NR_148039.1:n.2377C>T, NM_001352746.2:c.1944C>T, NM_001352746.1:c.1944C>T, NM_001352749.2:c.345C>T, NM_001352749.1:c.345C>T, NM_001352750.2:c.345C>T, NM_001352750.1:c.345C>T, NM_001352751.2:c.345C>T, NM_001352751.1:c.345C>T, NM_001352752.2:c.345C>T, NM_001352752.1:c.345C>T, NM_001387650.1:c.2547C>T, NM_001387649.1:c.2586C>T, NM_001387648.1:c.2547C>T, NM_001387647.1:c.2415C>T, NM_001387646.1:c.2547C>T, NM_001387645.1:c.2415C>T, NM_001387662.1:c.2547C>T, NM_001387661.1:c.2547C>T, NM_001387644.1:c.2556C>T, NM_001387643.1:c.2547C>T, NM_001387642.1:c.2415C>T, NM_001387660.1:c.2547C>T, NM_001387641.1:c.2454C>T, NM_001387640.1:c.2538C>T, NM_001387639.1:c.2454C>T, NM_001387659.1:c.2415C>T, NM_001387638.1:c.2415C>T, NM_001387637.1:c.2415C>T, NM_001387658.1:c.2415C>T, NM_001387636.1:c.2415C>T, NM_001387635.1:c.1968C>T, NM_001387634.1:c.2433C>T, NM_001387633.1:c.2436C>T, NR_170673.1:n.2605C>T, NM_001387632.1:c.2415C>T, NM_001387631.1:c.2430C>T, NM_001387630.1:c.1893C>T, NM_001387629.1:c.1491C>T, NM_001387628.1:c.2415C>T, NM_001387657.1:c.2415C>T, NM_001387627.1:c.2433C>T, NM_001387625.1:c.2415C>T, NM_001387624.1:c.2430C>T, NM_001387623.1:c.2076C>T, NM_001387622.1:c.2433C>T, NM_001387621.1:c.1473C>T, NM_001387656.1:c.2415C>T, NM_001387587.1:c.2415C>T, NM_001387620.1:c.2115C>T, NM_001387619.1:c.2307C>T, NM_001387618.1:c.2076C>T, NM_001387655.1:c.2415C>T, NM_001387617.1:c.1473C>T, NM_001387616.1:c.1473C>T, NM_001387615.1:c.2346C>T, NM_001387614.1:c.2415C>T, NM_001387613.1:c.2076C>T, NM_001387612.1:c.2076C>T, NM_001387611.1:c.2094C>T, NM_001387586.1:c.2415C>T, NM_001387610.1:c.1893C>T, NM_001387609.1:c.2076C>T, NM_001387608.1:c.2076C>T, NM_001387654.1:c.2076C>T, NR_170672.1:n.2493C>T, NM_001387607.1:c.2115C>T, NM_001387606.1:c.2097C>T, NM_001387653.1:c.2307C>T, NM_001387585.1:c.2415C>T, NM_001387605.1:c.2076C>T, NM_001387652.1:c.2076C>T, NM_001387604.1:c.1473C>T, NM_001387603.1:c.2076C>T, NM_001387592.1:c.1473C>T, NM_001387591.1:c.2076C>T, NM_001387584.1:c.2076C>T, NM_001387590.1:c.1968C>T, NR_170671.1:n.2326C>T, XM_024447202.2:c.2589C>T, XM_024447202.1:c.2589C>T, XM_024447203.2:c.2586C>T, XM_024447203.1:c.2586C>T, XM_024447207.2:c.2568C>T, XM_024447207.1:c.2568C>T, XM_024447208.2:c.2499C>T, XM_024447208.1:c.2499C>T, XM_024447209.2:c.2481C>T, XM_024447209.1:c.2481C>T, XM_047422048.1:c.2235C>T, XM_047422019.1:c.2670C>T, XM_047422021.1:c.2670C>T, XM_047422028.1:c.2670C>T, XM_047422031.1:c.2586C>T, XM_047422034.1:c.2568C>T, XM_047422036.1:c.2568C>T, XM_047422037.1:c.2547C>T, XM_047422020.1:c.2670C>T, XM_047422047.1:c.2439C>T, XM_047422016.1:c.2691C>T, XM_047422017.1:c.2691C>T, XM_047422018.1:c.2670C>T, XM_047422022.1:c.2670C>T, XM_047422049.1:c.2538C>T, XM_047422023.1:c.2691C>T, XM_047422024.1:c.2691C>T, XM_047422025.1:c.2607C>T, XM_047422039.1:c.2538C>T, XM_047422053.1:c.2538C>T, XM_047422027.1:c.2670C>T, XM_047422026.1:c.2607C>T, XM_047422029.1:c.2589C>T, XM_047422030.1:c.2586C>T, XM_047422032.1:c.2583C>T, XM_047422044.1:c.2454C>T, XM_047422033.1:c.2568C>T, XM_047422035.1:c.2568C>T, XM_047422038.1:c.2607C>T, XM_047422040.1:c.2589C>T, XM_047422041.1:c.2586C>T, XM_047422043.1:c.2568C>T, XM_047422045.1:c.2460C>T, XM_047422050.1:c.2199C>T, XM_047422046.1:c.2499C>T, XM_047422052.1:c.2199C>T, XM_047422054.1:c.2097C>T

                      11.

                      rs1479492547 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        8:140674381 (GRCh38)
                        8:141684480 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:140674380:G:T
                        Gene:
                        PTK2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        HGVS:
                        NC_000008.11:g.140674381G>T, NC_000008.10:g.141684480G>T, NG_029467.2:g.331933C>A, NM_005607.5:c.2692C>A, NM_005607.4:c.2692C>A, NM_153831.4:c.2626C>A, NM_153831.3:c.2626C>A, NM_001352697.2:c.2818C>A, NM_001352697.1:c.2818C>A, NM_001352698.2:c.2788C>A, NM_001352698.1:c.2788C>A, NM_001352705.2:c.2704C>A, NM_001352705.1:c.2704C>A, NM_001352712.2:c.2749C>A, NM_001352712.1:c.2749C>A, NM_001352701.2:c.2749C>A, NM_001352701.1:c.2749C>A, NM_001352703.2:c.2749C>A, NM_001352703.1:c.2749C>A, NM_001352747.2:c.1204C>A, NM_001352747.1:c.1204C>A, NM_001352702.2:c.2749C>A, NM_001352702.1:c.2749C>A, NM_001352704.2:c.2728C>A, NM_001352704.1:c.2728C>A, NM_001352707.2:c.2665C>A, NM_001352707.1:c.2665C>A, NR_148037.2:n.2947C>A, NR_148037.1:n.2978C>A, NM_001352709.2:c.2665C>A, NM_001352709.1:c.2665C>A, NM_001352700.2:c.2749C>A, NM_001352700.1:c.2749C>A, NM_001352699.2:c.2749C>A, NM_001352699.1:c.2749C>A, NM_001352695.2:c.2665C>A, NM_001352695.1:c.2665C>A, NM_001199649.2:c.2656C>A, NM_001199649.1:c.2656C>A, NM_001352714.2:c.2647C>A, NM_001352714.1:c.2647C>A, NM_001352716.2:c.2641C>A, NM_001352716.1:c.2641C>A, NR_148036.2:n.2916C>A, NR_148036.1:n.2947C>A, NM_001352717.2:c.2644C>A, NM_001352717.1:c.2644C>A, NM_001352708.2:c.2665C>A, NM_001352708.1:c.2665C>A, NM_001352710.2:c.2665C>A, NM_001352710.1:c.2665C>A, NM_001352718.2:c.2626C>A, NM_001352718.1:c.2626C>A, NM_001352725.2:c.2563C>A, NM_001352725.1:c.2563C>A, NM_001352723.2:c.2602C>A, NM_001352723.1:c.2602C>A, NM_001352719.2:c.2626C>A, NM_001352719.1:c.2626C>A, NM_001352724.2:c.2665C>A, NM_001352724.1:c.2665C>A, NM_001352731.2:c.2410C>A, NM_001352731.1:c.2410C>A, NM_001352706.2:c.2665C>A, NM_001352706.1:c.2665C>A, NM_001352711.2:c.2662C>A, NM_001352711.1:c.2662C>A, NM_001352722.2:c.2602C>A, NM_001352722.1:c.2602C>A, NM_001352713.2:c.2647C>A, NM_001352713.1:c.2647C>A, NM_001352726.2:c.2557C>A, NM_001352726.1:c.2557C>A, NM_001352715.2:c.2644C>A, NM_001352715.1:c.2644C>A, NM_001352737.2:c.2389C>A, NM_001352737.1:c.2389C>A, NM_001352720.2:c.2626C>A, NM_001352720.1:c.2626C>A, NM_001352694.2:c.2626C>A, NM_001352694.1:c.2626C>A, NM_001352721.2:c.2602C>A, NM_001352721.1:c.2602C>A, NM_001352739.2:c.2308C>A, NM_001352739.1:c.2308C>A, NM_001352696.2:c.2326C>A, NM_001352696.1:c.2326C>A, NM_001352730.2:c.2410C>A, NM_001352730.1:c.2410C>A, NM_001352735.2:c.2347C>A, NM_001352735.1:c.2347C>A, NM_001352732.2:c.2410C>A, NM_001352732.1:c.2410C>A, NM_001352736.2:c.2341C>A, NM_001352736.1:c.2341C>A, NM_001352740.2:c.2305C>A, NM_001352740.1:c.2305C>A, NM_001352733.2:c.2389C>A, NM_001352733.1:c.2389C>A, NM_001352743.2:c.2263C>A, NM_001352743.1:c.2263C>A, NM_001352727.2:c.2602C>A, NM_001352727.1:c.2602C>A, NM_001352734.2:c.2347C>A, NM_001352734.1:c.2347C>A, NM_001352728.2:c.2518C>A, NM_001352728.1:c.2518C>A, NM_001316342.2:c.2326C>A, NM_001316342.1:c.2326C>A, NM_001352729.2:c.2494C>A, NM_001352729.1:c.2494C>A, NM_001352738.2:c.2326C>A, NM_001352738.1:c.2326C>A, NR_148038.2:n.2665C>A, NR_148038.1:n.2696C>A, NM_001352741.2:c.2287C>A, NM_001352741.1:c.2287C>A, NM_001352742.2:c.2263C>A, NM_001352742.1:c.2263C>A, NM_001352744.2:c.2218C>A, NM_001352744.1:c.2218C>A, NM_001352745.2:c.2200C>A, NM_001352745.1:c.2200C>A, NR_148039.2:n.2557C>A, NR_148039.1:n.2588C>A, NM_001352746.2:c.2155C>A, NM_001352746.1:c.2155C>A, NM_001352749.2:c.556C>A, NM_001352749.1:c.556C>A, NM_001352750.2:c.556C>A, NM_001352750.1:c.556C>A, NM_001352751.2:c.493C>A, NM_001352751.1:c.493C>A, NM_001352752.2:c.493C>A, NM_001352752.1:c.493C>A, NM_001387650.1:c.2758C>A, NM_001387649.1:c.2797C>A, NM_001387648.1:c.2758C>A, NM_001387647.1:c.2626C>A, NM_001387646.1:c.2758C>A, NM_001387645.1:c.2626C>A, NM_001387662.1:c.2758C>A, NM_001387661.1:c.2758C>A, NM_001387644.1:c.2767C>A, NM_001387643.1:c.2758C>A, NM_001387642.1:c.2626C>A, NM_001387660.1:c.2758C>A, NM_001387641.1:c.2665C>A, NM_001387640.1:c.2686C>A, NM_001387639.1:c.2665C>A, NM_001387659.1:c.2626C>A, NM_001387638.1:c.2626C>A, NM_001387637.1:c.2626C>A, NM_001387658.1:c.2626C>A, NM_001387636.1:c.2626C>A, NM_001387635.1:c.2179C>A, NM_001387634.1:c.2644C>A, NM_001387633.1:c.2584C>A, NR_170673.1:n.2914C>A, NM_001387632.1:c.2563C>A, NM_001387631.1:c.2641C>A, NM_001387630.1:c.2104C>A, NM_001387629.1:c.1702C>A, NM_001387628.1:c.2626C>A, NM_001387657.1:c.2626C>A, NM_001387627.1:c.2581C>A, NM_001387625.1:c.2563C>A, NM_001387624.1:c.2641C>A, NM_001387623.1:c.2287C>A, NM_001387622.1:c.2644C>A, NM_001387621.1:c.1684C>A, NM_001387656.1:c.2563C>A, NM_001387587.1:c.2626C>A, NM_001387620.1:c.2326C>A, NM_001387619.1:c.2518C>A, NM_001387618.1:c.2287C>A, NM_001387655.1:c.2626C>A, NM_001387617.1:c.1684C>A, NM_001387616.1:c.1684C>A, NM_001387615.1:c.2557C>A, NM_001387614.1:c.2563C>A, NM_001387613.1:c.2287C>A, NM_001387612.1:c.2287C>A, NM_001387611.1:c.2305C>A, NM_001387586.1:c.2626C>A, NM_001387610.1:c.2104C>A, NM_001387609.1:c.2287C>A, NM_001387608.1:c.2287C>A, NM_001387654.1:c.2287C>A, NR_170672.1:n.2704C>A, NM_001387607.1:c.2326C>A, NM_001387606.1:c.2308C>A, NM_001387653.1:c.2518C>A, NM_001387585.1:c.2563C>A, NM_001387605.1:c.2287C>A, NM_001387652.1:c.2287C>A, NM_001387604.1:c.1684C>A, NM_001387603.1:c.2224C>A, NM_001387592.1:c.1684C>A, NM_001387591.1:c.2224C>A, NM_001387584.1:c.2287C>A, NM_001387590.1:c.2179C>A, NR_170671.1:n.2537C>A, XM_024447202.2:c.2800C>A, XM_024447202.1:c.2800C>A, XM_024447203.2:c.2797C>A, XM_024447203.1:c.2797C>A, XM_024447207.2:c.2716C>A, XM_024447207.1:c.2716C>A, XM_024447208.2:c.2710C>A, XM_024447208.1:c.2710C>A, XM_024447209.2:c.2692C>A, XM_024447209.1:c.2692C>A, XM_047422048.1:c.2446C>A, XM_047422019.1:c.2881C>A, XM_047422021.1:c.2881C>A, XM_047422028.1:c.2818C>A, XM_047422031.1:c.2797C>A, XM_047422034.1:c.2779C>A, XM_047422036.1:c.2779C>A, XM_047422037.1:c.2758C>A, XM_047422020.1:c.2881C>A, XM_047422047.1:c.2650C>A, XM_047422016.1:c.2902C>A, XM_047422017.1:c.2902C>A, XM_047422018.1:c.2881C>A, XM_047422022.1:c.2881C>A, XM_047422049.1:c.2749C>A, XM_047422023.1:c.2839C>A, XM_047422024.1:c.2839C>A, XM_047422025.1:c.2818C>A, XM_047422039.1:c.2749C>A, XM_047422053.1:c.2749C>A, XM_047422027.1:c.2818C>A, XM_047422026.1:c.2818C>A, XM_047422029.1:c.2800C>A, XM_047422030.1:c.2797C>A, XM_047422032.1:c.2794C>A, XM_047422044.1:c.2665C>A, XM_047422033.1:c.2779C>A, XM_047422035.1:c.2779C>A, XM_047422038.1:c.2755C>A, XM_047422040.1:c.2737C>A, XM_047422041.1:c.2734C>A, XM_047422043.1:c.2716C>A, XM_047422045.1:c.2671C>A, XM_047422050.1:c.2410C>A, XM_047422046.1:c.2647C>A, XM_047422052.1:c.2410C>A, XM_047422054.1:c.2308C>A, NP_005598.3:p.Pro898Thr, NP_722560.1:p.Pro876Thr, NP_001339626.1:p.Pro940Thr, NP_001339627.1:p.Pro930Thr, NP_001339634.1:p.Pro902Thr, NP_001339641.1:p.Pro917Thr, NP_001339630.1:p.Pro917Thr, NP_001339632.1:p.Pro917Thr, NP_001339676.1:p.Pro402Thr, NP_001339631.1:p.Pro917Thr, NP_001339633.1:p.Pro910Thr, NP_001339636.1:p.Pro889Thr, NP_001339638.1:p.Pro889Thr, NP_001339629.1:p.Pro917Thr, NP_001339628.1:p.Pro917Thr, NP_001339624.1:p.Pro889Thr, NP_001186578.1:p.Pro886Thr, NP_001339643.1:p.Pro883Thr, NP_001339645.1:p.Pro881Thr, NP_001339646.1:p.Pro882Thr, NP_001339637.1:p.Pro889Thr, NP_001339639.1:p.Pro889Thr, NP_001339647.1:p.Pro876Thr, NP_001339654.1:p.Pro855Thr, NP_001339652.1:p.Pro868Thr, NP_001339648.1:p.Pro876Thr, NP_001339653.1:p.Pro889Thr, NP_001339660.1:p.Pro804Thr, NP_001339635.1:p.Pro889Thr, NP_001339640.1:p.Pro888Thr, NP_001339651.1:p.Pro868Thr, NP_001339642.1:p.Pro883Thr, NP_001339655.1:p.Pro853Thr, NP_001339644.1:p.Pro882Thr, NP_001339666.1:p.Pro797Thr, NP_001339649.1:p.Pro876Thr, NP_001339623.1:p.Pro876Thr, NP_001339650.1:p.Pro868Thr, NP_001339668.1:p.Pro770Thr, NP_001339625.1:p.Pro776Thr, NP_001339659.1:p.Pro804Thr, NP_001339664.1:p.Pro783Thr, NP_001339661.1:p.Pro804Thr, NP_001339665.1:p.Pro781Thr, NP_001339669.1:p.Pro769Thr, NP_001339662.1:p.Pro797Thr, NP_001339672.1:p.Pro755Thr, NP_001339656.1:p.Pro868Thr, NP_001339663.1:p.Pro783Thr, NP_001339657.1:p.Pro840Thr, NP_001303271.1:p.Pro776Thr, NP_001339658.1:p.Pro832Thr, NP_001339667.1:p.Pro776Thr, NP_001339670.1:p.Pro763Thr, NP_001339671.1:p.Pro755Thr, NP_001339673.1:p.Pro740Thr, NP_001339674.1:p.Pro734Thr, NP_001339675.1:p.Pro719Thr, NP_001339678.1:p.Pro186Thr, NP_001339679.1:p.Pro186Thr, NP_001339680.1:p.Pro165Thr, NP_001339681.1:p.Pro165Thr, NP_001374579.1:p.Pro920Thr, NP_001374578.1:p.Pro933Thr, NP_001374577.1:p.Pro920Thr, NP_001374576.1:p.Pro876Thr, NP_001374575.1:p.Pro920Thr, NP_001374574.1:p.Pro876Thr, NP_001374591.1:p.Pro920Thr, NP_001374590.1:p.Pro920Thr, NP_001374573.1:p.Pro923Thr, NP_001374572.1:p.Pro920Thr, NP_001374571.1:p.Pro876Thr, NP_001374589.1:p.Pro920Thr, NP_001374570.1:p.Pro889Thr, NP_001374569.1:p.Pro896Thr, NP_001374568.1:p.Pro889Thr, NP_001374588.1:p.Pro876Thr, NP_001374567.1:p.Pro876Thr, NP_001374566.1:p.Pro876Thr, NP_001374587.1:p.Pro876Thr, NP_001374565.1:p.Pro876Thr, NP_001374564.1:p.Pro727Thr, NP_001374563.1:p.Pro882Thr, NP_001374562.1:p.Pro862Thr, NP_001374561.1:p.Pro855Thr, NP_001374560.1:p.Pro881Thr, NP_001374559.1:p.Pro702Thr, NP_001374558.1:p.Pro568Thr, NP_001374557.1:p.Pro876Thr, NP_001374586.1:p.Pro876Thr, NP_001374556.1:p.Pro861Thr, NP_001374554.1:p.Pro855Thr, NP_001374553.1:p.Pro881Thr, NP_001374552.1:p.Pro763Thr, NP_001374551.1:p.Pro882Thr, NP_001374550.1:p.Pro562Thr, NP_001374585.1:p.Pro855Thr, NP_001374516.1:p.Pro876Thr, NP_001374549.1:p.Pro776Thr, NP_001374548.1:p.Pro840Thr, NP_001374547.1:p.Pro763Thr, NP_001374584.1:p.Pro876Thr, NP_001374546.1:p.Pro562Thr, NP_001374545.1:p.Pro562Thr, NP_001374544.1:p.Pro853Thr, NP_001374543.1:p.Pro855Thr, NP_001374542.1:p.Pro763Thr, NP_001374541.1:p.Pro763Thr, NP_001374540.1:p.Pro769Thr, NP_001374515.1:p.Pro876Thr, NP_001374539.1:p.Pro702Thr, NP_001374538.1:p.Pro763Thr, NP_001374537.1:p.Pro763Thr, NP_001374583.1:p.Pro763Thr, NP_001374536.1:p.Pro776Thr, NP_001374535.1:p.Pro770Thr, NP_001374582.1:p.Pro840Thr, NP_001374514.1:p.Pro855Thr, NP_001374534.1:p.Pro763Thr, NP_001374581.1:p.Pro763Thr, NP_001374533.1:p.Pro562Thr, NP_001374532.1:p.Pro742Thr, NP_001374521.1:p.Pro562Thr, NP_001374520.1:p.Pro742Thr, NP_001374513.1:p.Pro763Thr, NP_001374519.1:p.Pro727Thr, XP_024302970.1:p.Pro934Thr, XP_024302971.1:p.Pro933Thr, XP_024302975.1:p.Pro906Thr, XP_024302976.1:p.Pro904Thr, XP_024302977.1:p.Pro898Thr, XP_047278004.1:p.Pro816Thr, XP_047277975.1:p.Pro961Thr, XP_047277977.1:p.Pro961Thr, XP_047277984.1:p.Pro940Thr, XP_047277987.1:p.Pro933Thr, XP_047277990.1:p.Pro927Thr, XP_047277992.1:p.Pro927Thr, XP_047277993.1:p.Pro920Thr, XP_047277976.1:p.Pro961Thr, XP_047278003.1:p.Pro884Thr, XP_047277972.1:p.Pro968Thr, XP_047277973.1:p.Pro968Thr, XP_047277974.1:p.Pro961Thr, XP_047277978.1:p.Pro961Thr, XP_047278005.1:p.Pro917Thr, XP_047277979.1:p.Pro947Thr, XP_047277980.1:p.Pro947Thr, XP_047277981.1:p.Pro940Thr, XP_047277995.1:p.Pro917Thr, XP_047278009.1:p.Pro917Thr, XP_047277983.1:p.Pro940Thr, XP_047277982.1:p.Pro940Thr, XP_047277985.1:p.Pro934Thr, XP_047277986.1:p.Pro933Thr, XP_047277988.1:p.Pro932Thr, XP_047278000.1:p.Pro889Thr, XP_047277989.1:p.Pro927Thr, XP_047277991.1:p.Pro927Thr, XP_047277994.1:p.Pro919Thr, XP_047277996.1:p.Pro913Thr, XP_047277997.1:p.Pro912Thr, XP_047277999.1:p.Pro906Thr, XP_047278001.1:p.Pro891Thr, XP_047278006.1:p.Pro804Thr, XP_047278002.1:p.Pro883Thr, XP_047278008.1:p.Pro804Thr, XP_047278010.1:p.Pro770Thr

                        12.

                        rs1479246001 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:140864338 (GRCh38)
                          8:141874437 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:140864337:G:A
                          Gene:
                          PTK2 (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000008.11:g.140864338G>A, NC_000008.10:g.141874437G>A, NG_029467.2:g.141976C>T, NM_005607.5:c.490C>T, NM_005607.4:c.490C>T, NM_153831.4:c.424C>T, NM_153831.3:c.424C>T, NM_001352697.2:c.556C>T, NM_001352697.1:c.556C>T, NM_001352698.2:c.463C>T, NM_001352698.1:c.463C>T, NM_001352705.2:c.463C>T, NM_001352705.1:c.463C>T, NM_001352712.2:c.424C>T, NM_001352712.1:c.424C>T, NM_001352701.2:c.424C>T, NM_001352701.1:c.424C>T, NM_001352703.2:c.424C>T, NM_001352703.1:c.424C>T, NM_001352747.2:c.-1216C>T, NM_001352747.1:c.-1216C>T, NM_001352702.2:c.424C>T, NM_001352702.1:c.424C>T, NM_001352704.2:c.424C>T, NM_001352704.1:c.424C>T, NM_001352707.2:c.424C>T, NM_001352707.1:c.424C>T, NR_148037.2:n.818C>T, NR_148037.1:n.849C>T, NM_001352709.2:c.424C>T, NM_001352709.1:c.424C>T, NM_001352700.2:c.424C>T, NM_001352700.1:c.424C>T, NM_001352699.2:c.424C>T, NM_001352699.1:c.424C>T, NM_001352695.2:c.424C>T, NM_001352695.1:c.424C>T, NM_001199649.2:c.424C>T, NM_001199649.1:c.424C>T, NM_001352714.2:c.424C>T, NM_001352714.1:c.424C>T, NM_001352716.2:c.424C>T, NM_001352716.1:c.424C>T, NR_148036.2:n.703C>T, NR_148036.1:n.734C>T, NM_001352717.2:c.424C>T, NM_001352717.1:c.424C>T, NM_001352708.2:c.424C>T, NM_001352708.1:c.424C>T, NM_001352710.2:c.424C>T, NM_001352710.1:c.424C>T, NM_001352718.2:c.424C>T, NM_001352718.1:c.424C>T, NM_001352725.2:c.424C>T, NM_001352725.1:c.424C>T, NM_001352723.2:c.424C>T, NM_001352723.1:c.424C>T, NM_001352719.2:c.424C>T, NM_001352719.1:c.424C>T, NM_001352724.2:c.424C>T, NM_001352724.1:c.424C>T, NM_001352731.2:c.85C>T, NM_001352731.1:c.85C>T, NM_001352706.2:c.424C>T, NM_001352706.1:c.424C>T, NM_001352711.2:c.424C>T, NM_001352711.1:c.424C>T, NM_001352722.2:c.424C>T, NM_001352722.1:c.424C>T, NM_001352713.2:c.424C>T, NM_001352713.1:c.424C>T, NM_001352726.2:c.424C>T, NM_001352726.1:c.424C>T, NM_001352715.2:c.424C>T, NM_001352715.1:c.424C>T, NM_001352737.2:c.85C>T, NM_001352737.1:c.85C>T, NM_001352720.2:c.424C>T, NM_001352720.1:c.424C>T, NM_001352694.2:c.424C>T, NM_001352694.1:c.424C>T, NM_001352721.2:c.424C>T, NM_001352721.1:c.424C>T, NM_001352739.2:c.85C>T, NM_001352739.1:c.85C>T, NM_001352696.2:c.85C>T, NM_001352696.1:c.85C>T, NM_001352730.2:c.85C>T, NM_001352730.1:c.85C>T, NM_001352735.2:c.85C>T, NM_001352735.1:c.85C>T, NM_001352732.2:c.85C>T, NM_001352732.1:c.85C>T, NM_001352736.2:c.121C>T, NM_001352736.1:c.121C>T, NM_001352740.2:c.85C>T, NM_001352740.1:c.85C>T, NM_001352733.2:c.85C>T, NM_001352733.1:c.85C>T, NM_001352743.2:c.85C>T, NM_001352743.1:c.85C>T, NM_001352727.2:c.424C>T, NM_001352727.1:c.424C>T, NM_001352734.2:c.85C>T, NM_001352734.1:c.85C>T, NM_001352728.2:c.424C>T, NM_001352728.1:c.424C>T, NM_001316342.2:c.85C>T, NM_001316342.1:c.85C>T, NM_001352729.2:c.424C>T, NM_001352729.1:c.424C>T, NM_001352738.2:c.85C>T, NM_001352738.1:c.85C>T, NR_148038.2:n.536C>T, NR_148038.1:n.567C>T, NM_001352741.2:c.85C>T, NM_001352741.1:c.85C>T, NM_001352742.2:c.85C>T, NM_001352742.1:c.85C>T, NM_001352744.2:c.85C>T, NM_001352744.1:c.85C>T, NM_001352745.2:c.85C>T, NM_001352745.1:c.85C>T, NR_148039.2:n.536C>T, NR_148039.1:n.567C>T, NM_001352746.2:c.85C>T, NM_001352746.1:c.85C>T, NM_001352748.2:c.424C>T, NM_001352748.1:c.424C>T, NM_001387650.1:c.556C>T, NM_001387649.1:c.556C>T, NM_001387648.1:c.556C>T, NM_001387647.1:c.424C>T, NM_001387646.1:c.556C>T, NM_001387645.1:c.424C>T, NM_001387662.1:c.556C>T, NM_001387661.1:c.556C>T, NM_001387644.1:c.463C>T, NM_001387643.1:c.556C>T, NM_001387642.1:c.424C>T, NM_001387660.1:c.556C>T, NM_001387641.1:c.463C>T, NM_001387640.1:c.424C>T, NM_001387639.1:c.424C>T, NM_001387659.1:c.424C>T, NM_001387638.1:c.424C>T, NM_001387637.1:c.424C>T, NM_001387658.1:c.424C>T, NM_001387636.1:c.424C>T, NM_001387635.1:c.85C>T, NM_001387634.1:c.424C>T, NM_001387633.1:c.424C>T, NR_170673.1:n.614C>T, NM_001387632.1:c.424C>T, NM_001387631.1:c.424C>T, NM_001387630.1:c.-173C>T, NM_001387629.1:c.-464C>T, NM_001387628.1:c.424C>T, NM_001387657.1:c.424C>T, NM_001387627.1:c.424C>T, NM_001387625.1:c.424C>T, NM_001387624.1:c.424C>T, NM_001387623.1:c.85C>T, NM_001387622.1:c.424C>T, NM_001387621.1:c.-464C>T, NM_001387656.1:c.424C>T, NM_001387587.1:c.424C>T, NM_001387620.1:c.85C>T, NM_001387619.1:c.424C>T, NM_001387618.1:c.85C>T, NM_001387655.1:c.424C>T, NM_001387617.1:c.-464C>T, NM_001387616.1:c.-464C>T, NM_001387615.1:c.424C>T, NM_001387614.1:c.424C>T, NM_001387613.1:c.85C>T, NM_001387612.1:c.85C>T, NM_001387611.1:c.85C>T, NM_001387586.1:c.424C>T, NM_001387610.1:c.-173C>T, NM_001387609.1:c.85C>T, NM_001387608.1:c.85C>T, NM_001387654.1:c.85C>T, NR_170672.1:n.614C>T, NM_001387607.1:c.85C>T, NM_001387606.1:c.85C>T, NM_001387653.1:c.424C>T, NM_001387585.1:c.424C>T, NM_001387605.1:c.85C>T, NM_001387652.1:c.85C>T, NM_001387604.1:c.-464C>T, NM_001387603.1:c.85C>T, NM_001387592.1:c.-464C>T, NM_001387591.1:c.85C>T, NM_001387584.1:c.85C>T, NM_001387590.1:c.85C>T, NR_170671.1:n.447C>T, XM_024447202.2:c.577C>T, XM_024447202.1:c.577C>T, XM_024447203.2:c.577C>T, XM_024447203.1:c.577C>T, XM_024447207.2:c.577C>T, XM_024447207.1:c.577C>T, XM_024447208.2:c.577C>T, XM_024447208.1:c.577C>T, XM_024447209.2:c.577C>T, XM_024447209.1:c.577C>T, XM_047422048.1:c.121C>T, XM_047422019.1:c.556C>T, XM_047422021.1:c.556C>T, XM_047422028.1:c.556C>T, XM_047422031.1:c.556C>T, XM_047422034.1:c.556C>T, XM_047422036.1:c.556C>T, XM_047422037.1:c.556C>T, XM_047422020.1:c.556C>T, XM_047422047.1:c.556C>T, XM_047422016.1:c.577C>T, XM_047422017.1:c.577C>T, XM_047422018.1:c.577C>T, XM_047422022.1:c.577C>T, XM_047422049.1:c.424C>T, XM_047422023.1:c.577C>T, XM_047422024.1:c.577C>T, XM_047422025.1:c.577C>T, XM_047422039.1:c.424C>T, XM_047422053.1:c.424C>T, XM_047422027.1:c.577C>T, XM_047422026.1:c.577C>T, XM_047422029.1:c.577C>T, XM_047422030.1:c.577C>T, XM_047422032.1:c.577C>T, XM_047422044.1:c.463C>T, XM_047422033.1:c.577C>T, XM_047422035.1:c.577C>T, XM_047422038.1:c.577C>T, XM_047422040.1:c.577C>T, XM_047422041.1:c.577C>T, XM_047422043.1:c.577C>T, XM_047422045.1:c.577C>T, XM_047422050.1:c.85C>T, XM_047422046.1:c.577C>T, XM_047422052.1:c.85C>T, XM_047422054.1:c.85C>T, NP_005598.3:p.Pro164Ser, NP_722560.1:p.Pro142Ser, NP_001339626.1:p.Pro186Ser, NP_001339627.1:p.Pro155Ser, NP_001339634.1:p.Pro155Ser, NP_001339641.1:p.Pro142Ser, NP_001339630.1:p.Pro142Ser, NP_001339632.1:p.Pro142Ser, NP_001339631.1:p.Pro142Ser, NP_001339633.1:p.Pro142Ser, NP_001339636.1:p.Pro142Ser, NP_001339638.1:p.Pro142Ser, NP_001339629.1:p.Pro142Ser, NP_001339628.1:p.Pro142Ser, NP_001339624.1:p.Pro142Ser, NP_001186578.1:p.Pro142Ser, NP_001339643.1:p.Pro142Ser, NP_001339645.1:p.Pro142Ser, NP_001339646.1:p.Pro142Ser, NP_001339637.1:p.Pro142Ser, NP_001339639.1:p.Pro142Ser, NP_001339647.1:p.Pro142Ser, NP_001339654.1:p.Pro142Ser, NP_001339652.1:p.Pro142Ser, NP_001339648.1:p.Pro142Ser, NP_001339653.1:p.Pro142Ser, NP_001339660.1:p.Pro29Ser, NP_001339635.1:p.Pro142Ser, NP_001339640.1:p.Pro142Ser, NP_001339651.1:p.Pro142Ser, NP_001339642.1:p.Pro142Ser, NP_001339655.1:p.Pro142Ser, NP_001339644.1:p.Pro142Ser, NP_001339666.1:p.Pro29Ser, NP_001339649.1:p.Pro142Ser, NP_001339623.1:p.Pro142Ser, NP_001339650.1:p.Pro142Ser, NP_001339668.1:p.Pro29Ser, NP_001339625.1:p.Pro29Ser, NP_001339659.1:p.Pro29Ser, NP_001339664.1:p.Pro29Ser, NP_001339661.1:p.Pro29Ser, NP_001339665.1:p.Pro41Ser, NP_001339669.1:p.Pro29Ser, NP_001339662.1:p.Pro29Ser, NP_001339672.1:p.Pro29Ser, NP_001339656.1:p.Pro142Ser, NP_001339663.1:p.Pro29Ser, NP_001339657.1:p.Pro142Ser, NP_001303271.1:p.Pro29Ser, NP_001339658.1:p.Pro142Ser, NP_001339667.1:p.Pro29Ser, NP_001339670.1:p.Pro29Ser, NP_001339671.1:p.Pro29Ser, NP_001339673.1:p.Pro29Ser, NP_001339674.1:p.Pro29Ser, NP_001339675.1:p.Pro29Ser, NP_001339677.1:p.Pro142Ser, NP_001374579.1:p.Pro186Ser, NP_001374578.1:p.Pro186Ser, NP_001374577.1:p.Pro186Ser, NP_001374576.1:p.Pro142Ser, NP_001374575.1:p.Pro186Ser, NP_001374574.1:p.Pro142Ser, NP_001374591.1:p.Pro186Ser, NP_001374590.1:p.Pro186Ser, NP_001374573.1:p.Pro155Ser, NP_001374572.1:p.Pro186Ser, NP_001374571.1:p.Pro142Ser, NP_001374589.1:p.Pro186Ser, NP_001374570.1:p.Pro155Ser, NP_001374569.1:p.Pro142Ser, NP_001374568.1:p.Pro142Ser, NP_001374588.1:p.Pro142Ser, NP_001374567.1:p.Pro142Ser, NP_001374566.1:p.Pro142Ser, NP_001374587.1:p.Pro142Ser, NP_001374565.1:p.Pro142Ser, NP_001374564.1:p.Pro29Ser, NP_001374563.1:p.Pro142Ser, NP_001374562.1:p.Pro142Ser, NP_001374561.1:p.Pro142Ser, NP_001374560.1:p.Pro142Ser, NP_001374557.1:p.Pro142Ser, NP_001374586.1:p.Pro142Ser, NP_001374556.1:p.Pro142Ser, NP_001374554.1:p.Pro142Ser, NP_001374553.1:p.Pro142Ser, NP_001374552.1:p.Pro29Ser, NP_001374551.1:p.Pro142Ser, NP_001374585.1:p.Pro142Ser, NP_001374516.1:p.Pro142Ser, NP_001374549.1:p.Pro29Ser, NP_001374548.1:p.Pro142Ser, NP_001374547.1:p.Pro29Ser, NP_001374584.1:p.Pro142Ser, NP_001374544.1:p.Pro142Ser, NP_001374543.1:p.Pro142Ser, NP_001374542.1:p.Pro29Ser, NP_001374541.1:p.Pro29Ser, NP_001374540.1:p.Pro29Ser, NP_001374515.1:p.Pro142Ser, NP_001374538.1:p.Pro29Ser, NP_001374537.1:p.Pro29Ser, NP_001374583.1:p.Pro29Ser, NP_001374536.1:p.Pro29Ser, NP_001374535.1:p.Pro29Ser, NP_001374582.1:p.Pro142Ser, NP_001374514.1:p.Pro142Ser, NP_001374534.1:p.Pro29Ser, NP_001374581.1:p.Pro29Ser, NP_001374532.1:p.Pro29Ser, NP_001374520.1:p.Pro29Ser, NP_001374513.1:p.Pro29Ser, NP_001374519.1:p.Pro29Ser, XP_024302970.1:p.Pro193Ser, XP_024302971.1:p.Pro193Ser, XP_024302975.1:p.Pro193Ser, XP_024302976.1:p.Pro193Ser, XP_024302977.1:p.Pro193Ser, XP_047278004.1:p.Pro41Ser, XP_047277975.1:p.Pro186Ser, XP_047277977.1:p.Pro186Ser, XP_047277984.1:p.Pro186Ser, XP_047277987.1:p.Pro186Ser, XP_047277990.1:p.Pro186Ser, XP_047277992.1:p.Pro186Ser, XP_047277993.1:p.Pro186Ser, XP_047277976.1:p.Pro186Ser, XP_047278003.1:p.Pro186Ser, XP_047277972.1:p.Pro193Ser, XP_047277973.1:p.Pro193Ser, XP_047277974.1:p.Pro193Ser, XP_047277978.1:p.Pro193Ser, XP_047278005.1:p.Pro142Ser, XP_047277979.1:p.Pro193Ser, XP_047277980.1:p.Pro193Ser, XP_047277981.1:p.Pro193Ser, XP_047277995.1:p.Pro142Ser, XP_047278009.1:p.Pro142Ser, XP_047277983.1:p.Pro193Ser, XP_047277982.1:p.Pro193Ser, XP_047277985.1:p.Pro193Ser, XP_047277986.1:p.Pro193Ser, XP_047277988.1:p.Pro193Ser, XP_047278000.1:p.Pro155Ser, XP_047277989.1:p.Pro193Ser, XP_047277991.1:p.Pro193Ser, XP_047277994.1:p.Pro193Ser, XP_047277996.1:p.Pro193Ser, XP_047277997.1:p.Pro193Ser, XP_047277999.1:p.Pro193Ser, XP_047278001.1:p.Pro193Ser, XP_047278006.1:p.Pro29Ser, XP_047278002.1:p.Pro193Ser, XP_047278008.1:p.Pro29Ser, XP_047278010.1:p.Pro29Ser

                          13.

                          rs1478740608 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:140735317 (GRCh38)
                            8:141745416 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:140735316:A:G
                            Gene:
                            PTK2 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000008.11:g.140735317A>G, NC_000008.10:g.141745416A>G, NG_029467.2:g.270997T>C, NM_005607.5:c.2030T>C, NM_005607.4:c.2030T>C, NM_153831.4:c.1964T>C, NM_153831.3:c.1964T>C, NM_001352697.2:c.2219T>C, NM_001352697.1:c.2219T>C, NM_001352698.2:c.2126T>C, NM_001352698.1:c.2126T>C, NM_001352705.2:c.2042T>C, NM_001352705.1:c.2042T>C, NM_001352712.2:c.2087T>C, NM_001352712.1:c.2087T>C, NM_001352701.2:c.2087T>C, NM_001352701.1:c.2087T>C, NM_001352703.2:c.2087T>C, NM_001352703.1:c.2087T>C, NM_001352747.2:c.542T>C, NM_001352747.1:c.542T>C, NM_001352702.2:c.2087T>C, NM_001352702.1:c.2087T>C, NM_001352704.2:c.2066T>C, NM_001352704.1:c.2066T>C, NM_001352707.2:c.2003T>C, NM_001352707.1:c.2003T>C, NR_148037.2:n.2397T>C, NR_148037.1:n.2428T>C, NM_001352709.2:c.2003T>C, NM_001352709.1:c.2003T>C, NM_001352700.2:c.2087T>C, NM_001352700.1:c.2087T>C, NM_001352699.2:c.2087T>C, NM_001352699.1:c.2087T>C, NM_001352695.2:c.2066T>C, NM_001352695.1:c.2066T>C, NM_001199649.2:c.1964T>C, NM_001199649.1:c.1964T>C, NM_001352714.2:c.1985T>C, NM_001352714.1:c.1985T>C, NM_001352716.2:c.1979T>C, NM_001352716.1:c.1979T>C, NR_148036.2:n.2366T>C, NR_148036.1:n.2397T>C, NM_001352717.2:c.1982T>C, NM_001352717.1:c.1982T>C, NM_001352708.2:c.2003T>C, NM_001352708.1:c.2003T>C, NM_001352710.2:c.2003T>C, NM_001352710.1:c.2003T>C, NM_001352718.2:c.1964T>C, NM_001352718.1:c.1964T>C, NM_001352725.2:c.1964T>C, NM_001352725.1:c.1964T>C, NM_001352723.2:c.2003T>C, NM_001352723.1:c.2003T>C, NM_001352719.2:c.1964T>C, NM_001352719.1:c.1964T>C, NM_001352724.2:c.2003T>C, NM_001352724.1:c.2003T>C, NM_001352731.2:c.1748T>C, NM_001352731.1:c.1748T>C, NM_001352706.2:c.2003T>C, NM_001352706.1:c.2003T>C, NM_001352711.2:c.2000T>C, NM_001352711.1:c.2000T>C, NM_001352722.2:c.2003T>C, NM_001352722.1:c.2003T>C, NM_001352713.2:c.1985T>C, NM_001352713.1:c.1985T>C, NM_001352726.2:c.1895T>C, NM_001352726.1:c.1895T>C, NM_001352715.2:c.1982T>C, NM_001352715.1:c.1982T>C, NM_001352737.2:c.1727T>C, NM_001352737.1:c.1727T>C, NM_001352720.2:c.1964T>C, NM_001352720.1:c.1964T>C, NM_001352694.2:c.1964T>C, NM_001352694.1:c.1964T>C, NM_001352721.2:c.2003T>C, NM_001352721.1:c.2003T>C, NM_001352739.2:c.1646T>C, NM_001352739.1:c.1646T>C, NM_001352696.2:c.1664T>C, NM_001352696.1:c.1664T>C, NM_001352730.2:c.1748T>C, NM_001352730.1:c.1748T>C, NM_001352735.2:c.1685T>C, NM_001352735.1:c.1685T>C, NM_001352732.2:c.1748T>C, NM_001352732.1:c.1748T>C, NM_001352736.2:c.1679T>C, NM_001352736.1:c.1679T>C, NM_001352740.2:c.1643T>C, NM_001352740.1:c.1643T>C, NM_001352733.2:c.1727T>C, NM_001352733.1:c.1727T>C, NM_001352743.2:c.1664T>C, NM_001352743.1:c.1664T>C, NM_001352727.2:c.2003T>C, NM_001352727.1:c.2003T>C, NM_001352734.2:c.1748T>C, NM_001352734.1:c.1748T>C, NM_001352728.2:c.1856T>C, NM_001352728.1:c.1856T>C, NM_001316342.2:c.1664T>C, NM_001316342.1:c.1664T>C, NM_001352729.2:c.1895T>C, NM_001352729.1:c.1895T>C, NM_001352738.2:c.1664T>C, NM_001352738.1:c.1664T>C, NR_148038.2:n.2115T>C, NR_148038.1:n.2146T>C, NM_001352741.2:c.1625T>C, NM_001352741.1:c.1625T>C, NM_001352742.2:c.1601T>C, NM_001352742.1:c.1601T>C, NM_001352744.2:c.1556T>C, NM_001352744.1:c.1556T>C, NM_001352745.2:c.1538T>C, NM_001352745.1:c.1538T>C, NR_148039.2:n.2007T>C, NR_148039.1:n.2038T>C, NM_001352746.2:c.1493T>C, NM_001352746.1:c.1493T>C, NM_001387650.1:c.2096T>C, NM_001387649.1:c.2135T>C, NM_001387648.1:c.2096T>C, NM_001387647.1:c.1964T>C, NM_001387646.1:c.2096T>C, NM_001387645.1:c.1964T>C, NM_001387662.1:c.2096T>C, NM_001387661.1:c.2096T>C, NM_001387644.1:c.2105T>C, NM_001387643.1:c.2096T>C, NM_001387642.1:c.1964T>C, NM_001387660.1:c.2096T>C, NM_001387641.1:c.2003T>C, NM_001387640.1:c.2087T>C, NM_001387639.1:c.2003T>C, NM_001387659.1:c.1964T>C, NM_001387638.1:c.1964T>C, NM_001387637.1:c.1964T>C, NM_001387658.1:c.1964T>C, NM_001387636.1:c.1964T>C, NM_001387635.1:c.1517T>C, NM_001387634.1:c.1982T>C, NM_001387633.1:c.1985T>C, NR_170673.1:n.2154T>C, NM_001387632.1:c.1964T>C, NM_001387631.1:c.1979T>C, NM_001387630.1:c.1442T>C, NM_001387629.1:c.1040T>C, NM_001387628.1:c.1964T>C, NM_001387657.1:c.1964T>C, NM_001387627.1:c.1982T>C, NM_001387625.1:c.1964T>C, NM_001387624.1:c.1979T>C, NM_001387623.1:c.1625T>C, NM_001387622.1:c.1982T>C, NM_001387621.1:c.1022T>C, NM_001387656.1:c.1964T>C, NM_001387587.1:c.1964T>C, NM_001387620.1:c.1664T>C, NM_001387619.1:c.1856T>C, NM_001387618.1:c.1625T>C, NM_001387655.1:c.1964T>C, NM_001387617.1:c.1022T>C, NM_001387616.1:c.1022T>C, NM_001387615.1:c.1895T>C, NM_001387614.1:c.1964T>C, NM_001387613.1:c.1625T>C, NM_001387612.1:c.1625T>C, NM_001387611.1:c.1643T>C, NM_001387586.1:c.1964T>C, NM_001387610.1:c.1442T>C, NM_001387609.1:c.1625T>C, NM_001387608.1:c.1625T>C, NM_001387654.1:c.1625T>C, NR_170672.1:n.2154T>C, NM_001387607.1:c.1664T>C, NM_001387606.1:c.1646T>C, NM_001387653.1:c.1856T>C, NM_001387585.1:c.1964T>C, NM_001387605.1:c.1625T>C, NM_001387652.1:c.1625T>C, NM_001387604.1:c.1022T>C, NM_001387603.1:c.1625T>C, NM_001387592.1:c.1022T>C, NM_001387591.1:c.1625T>C, NM_001387584.1:c.1625T>C, NM_001387590.1:c.1517T>C, NR_170671.1:n.1987T>C, XM_024447202.2:c.2138T>C, XM_024447202.1:c.2138T>C, XM_024447203.2:c.2135T>C, XM_024447203.1:c.2135T>C, XM_024447207.2:c.2117T>C, XM_024447207.1:c.2117T>C, XM_024447208.2:c.2048T>C, XM_024447208.1:c.2048T>C, XM_024447209.2:c.2030T>C, XM_024447209.1:c.2030T>C, XM_047422048.1:c.1784T>C, XM_047422019.1:c.2219T>C, XM_047422021.1:c.2219T>C, XM_047422028.1:c.2219T>C, XM_047422031.1:c.2135T>C, XM_047422034.1:c.2117T>C, XM_047422036.1:c.2117T>C, XM_047422037.1:c.2096T>C, XM_047422020.1:c.2219T>C, XM_047422047.1:c.1988T>C, XM_047422016.1:c.2240T>C, XM_047422017.1:c.2240T>C, XM_047422018.1:c.2219T>C, XM_047422022.1:c.2219T>C, XM_047422049.1:c.2087T>C, XM_047422023.1:c.2240T>C, XM_047422024.1:c.2240T>C, XM_047422025.1:c.2156T>C, XM_047422039.1:c.2087T>C, XM_047422053.1:c.2087T>C, XM_047422027.1:c.2219T>C, XM_047422026.1:c.2156T>C, XM_047422029.1:c.2138T>C, XM_047422030.1:c.2135T>C, XM_047422032.1:c.2132T>C, XM_047422044.1:c.2003T>C, XM_047422033.1:c.2117T>C, XM_047422035.1:c.2117T>C, XM_047422038.1:c.2156T>C, XM_047422040.1:c.2138T>C, XM_047422041.1:c.2135T>C, XM_047422043.1:c.2117T>C, XM_047422045.1:c.2009T>C, XM_047422050.1:c.1748T>C, XM_047422046.1:c.2048T>C, XM_047422052.1:c.1748T>C, XM_047422054.1:c.1646T>C, NP_005598.3:p.Met677Thr, NP_722560.1:p.Met655Thr, NP_001339626.1:p.Met740Thr, NP_001339627.1:p.Met709Thr, NP_001339634.1:p.Met681Thr, NP_001339641.1:p.Met696Thr, NP_001339630.1:p.Met696Thr, NP_001339632.1:p.Met696Thr, NP_001339676.1:p.Met181Thr, NP_001339631.1:p.Met696Thr, NP_001339633.1:p.Met689Thr, NP_001339636.1:p.Met668Thr, NP_001339638.1:p.Met668Thr, NP_001339629.1:p.Met696Thr, NP_001339628.1:p.Met696Thr, NP_001339624.1:p.Met689Thr, NP_001186578.1:p.Met655Thr, NP_001339643.1:p.Met662Thr, NP_001339645.1:p.Met660Thr, NP_001339646.1:p.Met661Thr, NP_001339637.1:p.Met668Thr, NP_001339639.1:p.Met668Thr, NP_001339647.1:p.Met655Thr, NP_001339654.1:p.Met655Thr, NP_001339652.1:p.Met668Thr, NP_001339648.1:p.Met655Thr, NP_001339653.1:p.Met668Thr, NP_001339660.1:p.Met583Thr, NP_001339635.1:p.Met668Thr, NP_001339640.1:p.Met667Thr, NP_001339651.1:p.Met668Thr, NP_001339642.1:p.Met662Thr, NP_001339655.1:p.Met632Thr, NP_001339644.1:p.Met661Thr, NP_001339666.1:p.Met576Thr, NP_001339649.1:p.Met655Thr, NP_001339623.1:p.Met655Thr, NP_001339650.1:p.Met668Thr, NP_001339668.1:p.Met549Thr, NP_001339625.1:p.Met555Thr, NP_001339659.1:p.Met583Thr, NP_001339664.1:p.Met562Thr, NP_001339661.1:p.Met583Thr, NP_001339665.1:p.Met560Thr, NP_001339669.1:p.Met548Thr, NP_001339662.1:p.Met576Thr, NP_001339672.1:p.Met555Thr, NP_001339656.1:p.Met668Thr, NP_001339663.1:p.Met583Thr, NP_001339657.1:p.Met619Thr, NP_001303271.1:p.Met555Thr, NP_001339658.1:p.Met632Thr, NP_001339667.1:p.Met555Thr, NP_001339670.1:p.Met542Thr, NP_001339671.1:p.Met534Thr, NP_001339673.1:p.Met519Thr, NP_001339674.1:p.Met513Thr, NP_001339675.1:p.Met498Thr, NP_001374579.1:p.Met699Thr, NP_001374578.1:p.Met712Thr, NP_001374577.1:p.Met699Thr, NP_001374576.1:p.Met655Thr, NP_001374575.1:p.Met699Thr, NP_001374574.1:p.Met655Thr, NP_001374591.1:p.Met699Thr, NP_001374590.1:p.Met699Thr, NP_001374573.1:p.Met702Thr, NP_001374572.1:p.Met699Thr, NP_001374571.1:p.Met655Thr, NP_001374589.1:p.Met699Thr, NP_001374570.1:p.Met668Thr, NP_001374569.1:p.Met696Thr, NP_001374568.1:p.Met668Thr, NP_001374588.1:p.Met655Thr, NP_001374567.1:p.Met655Thr, NP_001374566.1:p.Met655Thr, NP_001374587.1:p.Met655Thr, NP_001374565.1:p.Met655Thr, NP_001374564.1:p.Met506Thr, NP_001374563.1:p.Met661Thr, NP_001374562.1:p.Met662Thr, NP_001374561.1:p.Met655Thr, NP_001374560.1:p.Met660Thr, NP_001374559.1:p.Met481Thr, NP_001374558.1:p.Met347Thr, NP_001374557.1:p.Met655Thr, NP_001374586.1:p.Met655Thr, NP_001374556.1:p.Met661Thr, NP_001374554.1:p.Met655Thr, NP_001374553.1:p.Met660Thr, NP_001374552.1:p.Met542Thr, NP_001374551.1:p.Met661Thr, NP_001374550.1:p.Met341Thr, NP_001374585.1:p.Met655Thr, NP_001374516.1:p.Met655Thr, NP_001374549.1:p.Met555Thr, NP_001374548.1:p.Met619Thr, NP_001374547.1:p.Met542Thr, NP_001374584.1:p.Met655Thr, NP_001374546.1:p.Met341Thr, NP_001374545.1:p.Met341Thr, NP_001374544.1:p.Met632Thr, NP_001374543.1:p.Met655Thr, NP_001374542.1:p.Met542Thr, NP_001374541.1:p.Met542Thr, NP_001374540.1:p.Met548Thr, NP_001374515.1:p.Met655Thr, NP_001374539.1:p.Met481Thr, NP_001374538.1:p.Met542Thr, NP_001374537.1:p.Met542Thr, NP_001374583.1:p.Met542Thr, NP_001374536.1:p.Met555Thr, NP_001374535.1:p.Met549Thr, NP_001374582.1:p.Met619Thr, NP_001374514.1:p.Met655Thr, NP_001374534.1:p.Met542Thr, NP_001374581.1:p.Met542Thr, NP_001374533.1:p.Met341Thr, NP_001374532.1:p.Met542Thr, NP_001374521.1:p.Met341Thr, NP_001374520.1:p.Met542Thr, NP_001374513.1:p.Met542Thr, NP_001374519.1:p.Met506Thr, XP_024302970.1:p.Met713Thr, XP_024302971.1:p.Met712Thr, XP_024302975.1:p.Met706Thr, XP_024302976.1:p.Met683Thr, XP_024302977.1:p.Met677Thr, XP_047278004.1:p.Met595Thr, XP_047277975.1:p.Met740Thr, XP_047277977.1:p.Met740Thr, XP_047277984.1:p.Met740Thr, XP_047277987.1:p.Met712Thr, XP_047277990.1:p.Met706Thr, XP_047277992.1:p.Met706Thr, XP_047277993.1:p.Met699Thr, XP_047277976.1:p.Met740Thr, XP_047278003.1:p.Met663Thr, XP_047277972.1:p.Met747Thr, XP_047277973.1:p.Met747Thr, XP_047277974.1:p.Met740Thr, XP_047277978.1:p.Met740Thr, XP_047278005.1:p.Met696Thr, XP_047277979.1:p.Met747Thr, XP_047277980.1:p.Met747Thr, XP_047277981.1:p.Met719Thr, XP_047277995.1:p.Met696Thr, XP_047278009.1:p.Met696Thr, XP_047277983.1:p.Met740Thr, XP_047277982.1:p.Met719Thr, XP_047277985.1:p.Met713Thr, XP_047277986.1:p.Met712Thr, XP_047277988.1:p.Met711Thr, XP_047278000.1:p.Met668Thr, XP_047277989.1:p.Met706Thr, XP_047277991.1:p.Met706Thr, XP_047277994.1:p.Met719Thr, XP_047277996.1:p.Met713Thr, XP_047277997.1:p.Met712Thr, XP_047277999.1:p.Met706Thr, XP_047278001.1:p.Met670Thr, XP_047278006.1:p.Met583Thr, XP_047278002.1:p.Met683Thr, XP_047278008.1:p.Met583Thr, XP_047278010.1:p.Met549Thr

                            14.

                            rs1478728253 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              8:140744747 (GRCh38)
                              8:141754846 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:140744746:T:A
                              Gene:
                              PTK2 (Varview)
                              Functional Consequence:
                              synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000008.11:g.140744747T>A, NC_000008.10:g.141754846T>A, NG_029467.2:g.261567A>T, NM_005607.5:c.1605A>T, NM_005607.4:c.1605A>T, NM_153831.4:c.1539A>T, NM_153831.3:c.1539A>T, NM_001352697.2:c.1794A>T, NM_001352697.1:c.1794A>T, NM_001352698.2:c.1701A>T, NM_001352698.1:c.1701A>T, NM_001352705.2:c.1617A>T, NM_001352705.1:c.1617A>T, NM_001352712.2:c.1662A>T, NM_001352712.1:c.1662A>T, NM_001352701.2:c.1662A>T, NM_001352701.1:c.1662A>T, NM_001352703.2:c.1662A>T, NM_001352703.1:c.1662A>T, NM_001352747.2:c.117A>T, NM_001352747.1:c.117A>T, NM_001352702.2:c.1662A>T, NM_001352702.1:c.1662A>T, NM_001352704.2:c.1641A>T, NM_001352704.1:c.1641A>T, NM_001352707.2:c.1578A>T, NM_001352707.1:c.1578A>T, NR_148037.2:n.1972A>T, NR_148037.1:n.2003A>T, NM_001352709.2:c.1578A>T, NM_001352709.1:c.1578A>T, NM_001352700.2:c.1662A>T, NM_001352700.1:c.1662A>T, NM_001352699.2:c.1662A>T, NM_001352699.1:c.1662A>T, NM_001352695.2:c.1641A>T, NM_001352695.1:c.1641A>T, NM_001199649.2:c.1539A>T, NM_001199649.1:c.1539A>T, NM_001352714.2:c.1560A>T, NM_001352714.1:c.1560A>T, NM_001352716.2:c.1554A>T, NM_001352716.1:c.1554A>T, NR_148036.2:n.1941A>T, NR_148036.1:n.1972A>T, NM_001352717.2:c.1557A>T, NM_001352717.1:c.1557A>T, NM_001352708.2:c.1578A>T, NM_001352708.1:c.1578A>T, NM_001352710.2:c.1578A>T, NM_001352710.1:c.1578A>T, NM_001352718.2:c.1539A>T, NM_001352718.1:c.1539A>T, NM_001352725.2:c.1539A>T, NM_001352725.1:c.1539A>T, NM_001352723.2:c.1578A>T, NM_001352723.1:c.1578A>T, NM_001352719.2:c.1539A>T, NM_001352719.1:c.1539A>T, NM_001352724.2:c.1578A>T, NM_001352724.1:c.1578A>T, NM_001352731.2:c.1323A>T, NM_001352731.1:c.1323A>T, NM_001352706.2:c.1578A>T, NM_001352706.1:c.1578A>T, NM_001352711.2:c.1575A>T, NM_001352711.1:c.1575A>T, NM_001352722.2:c.1578A>T, NM_001352722.1:c.1578A>T, NM_001352713.2:c.1560A>T, NM_001352713.1:c.1560A>T, NM_001352726.2:c.1470A>T, NM_001352726.1:c.1470A>T, NM_001352715.2:c.1557A>T, NM_001352715.1:c.1557A>T, NM_001352737.2:c.1302A>T, NM_001352737.1:c.1302A>T, NM_001352720.2:c.1539A>T, NM_001352720.1:c.1539A>T, NM_001352694.2:c.1539A>T, NM_001352694.1:c.1539A>T, NM_001352721.2:c.1578A>T, NM_001352721.1:c.1578A>T, NM_001352739.2:c.1221A>T, NM_001352739.1:c.1221A>T, NM_001352696.2:c.1239A>T, NM_001352696.1:c.1239A>T, NM_001352730.2:c.1323A>T, NM_001352730.1:c.1323A>T, NM_001352735.2:c.1260A>T, NM_001352735.1:c.1260A>T, NM_001352732.2:c.1323A>T, NM_001352732.1:c.1323A>T, NM_001352736.2:c.1254A>T, NM_001352736.1:c.1254A>T, NM_001352740.2:c.1218A>T, NM_001352740.1:c.1218A>T, NM_001352733.2:c.1302A>T, NM_001352733.1:c.1302A>T, NM_001352743.2:c.1239A>T, NM_001352743.1:c.1239A>T, NM_001352727.2:c.1578A>T, NM_001352727.1:c.1578A>T, NM_001352734.2:c.1323A>T, NM_001352734.1:c.1323A>T, NM_001352728.2:c.1431A>T, NM_001352728.1:c.1431A>T, NM_001316342.2:c.1239A>T, NM_001316342.1:c.1239A>T, NM_001352729.2:c.1470A>T, NM_001352729.1:c.1470A>T, NM_001352738.2:c.1239A>T, NM_001352738.1:c.1239A>T, NR_148038.2:n.1690A>T, NR_148038.1:n.1721A>T, NM_001352741.2:c.1200A>T, NM_001352741.1:c.1200A>T, NM_001352742.2:c.1176A>T, NM_001352742.1:c.1176A>T, NM_001352744.2:c.1131A>T, NM_001352744.1:c.1131A>T, NM_001352745.2:c.1113A>T, NM_001352745.1:c.1113A>T, NR_148039.2:n.1582A>T, NR_148039.1:n.1613A>T, NM_001352746.2:c.1068A>T, NM_001352746.1:c.1068A>T, NM_001387650.1:c.1671A>T, NM_001387649.1:c.1710A>T, NM_001387648.1:c.1671A>T, NM_001387647.1:c.1539A>T, NM_001387646.1:c.1671A>T, NM_001387645.1:c.1539A>T, NM_001387662.1:c.1671A>T, NM_001387661.1:c.1671A>T, NM_001387644.1:c.1680A>T, NM_001387643.1:c.1671A>T, NM_001387642.1:c.1539A>T, NM_001387660.1:c.1671A>T, NM_001387641.1:c.1578A>T, NM_001387640.1:c.1662A>T, NM_001387639.1:c.1578A>T, NM_001387659.1:c.1539A>T, NM_001387638.1:c.1539A>T, NM_001387637.1:c.1539A>T, NM_001387658.1:c.1539A>T, NM_001387636.1:c.1539A>T, NM_001387635.1:c.1092A>T, NM_001387634.1:c.1557A>T, NM_001387633.1:c.1560A>T, NR_170673.1:n.1729A>T, NM_001387632.1:c.1539A>T, NM_001387631.1:c.1554A>T, NM_001387630.1:c.1017A>T, NM_001387629.1:c.615A>T, NM_001387628.1:c.1539A>T, NM_001387657.1:c.1539A>T, NM_001387627.1:c.1557A>T, NM_001387625.1:c.1539A>T, NM_001387624.1:c.1554A>T, NM_001387623.1:c.1200A>T, NM_001387622.1:c.1557A>T, NM_001387621.1:c.597A>T, NM_001387656.1:c.1539A>T, NM_001387587.1:c.1539A>T, NM_001387620.1:c.1239A>T, NM_001387619.1:c.1431A>T, NM_001387618.1:c.1200A>T, NM_001387655.1:c.1539A>T, NM_001387617.1:c.597A>T, NM_001387616.1:c.597A>T, NM_001387615.1:c.1470A>T, NM_001387614.1:c.1539A>T, NM_001387613.1:c.1200A>T, NM_001387612.1:c.1200A>T, NM_001387611.1:c.1218A>T, NM_001387586.1:c.1539A>T, NM_001387610.1:c.1017A>T, NM_001387609.1:c.1200A>T, NM_001387608.1:c.1200A>T, NM_001387654.1:c.1200A>T, NR_170672.1:n.1729A>T, NM_001387607.1:c.1239A>T, NM_001387606.1:c.1221A>T, NM_001387653.1:c.1431A>T, NM_001387585.1:c.1539A>T, NM_001387605.1:c.1200A>T, NM_001387652.1:c.1200A>T, NM_001387604.1:c.597A>T, NM_001387603.1:c.1200A>T, NM_001387592.1:c.597A>T, NM_001387591.1:c.1200A>T, NM_001387584.1:c.1200A>T, NM_001387590.1:c.1092A>T, NR_170671.1:n.1562A>T, XM_024447202.2:c.1713A>T, XM_024447202.1:c.1713A>T, XM_024447203.2:c.1710A>T, XM_024447203.1:c.1710A>T, XM_024447207.2:c.1692A>T, XM_024447207.1:c.1692A>T, XM_024447208.2:c.1623A>T, XM_024447208.1:c.1623A>T, XM_024447209.2:c.1605A>T, XM_024447209.1:c.1605A>T, XM_047422048.1:c.1359A>T, XM_047422019.1:c.1794A>T, XM_047422021.1:c.1794A>T, XM_047422028.1:c.1794A>T, XM_047422031.1:c.1710A>T, XM_047422034.1:c.1692A>T, XM_047422036.1:c.1692A>T, XM_047422037.1:c.1671A>T, XM_047422020.1:c.1794A>T, XM_047422047.1:c.1563A>T, XM_047422016.1:c.1815A>T, XM_047422017.1:c.1815A>T, XM_047422018.1:c.1794A>T, XM_047422022.1:c.1794A>T, XM_047422049.1:c.1662A>T, XM_047422023.1:c.1815A>T, XM_047422024.1:c.1815A>T, XM_047422025.1:c.1731A>T, XM_047422039.1:c.1662A>T, XM_047422053.1:c.1662A>T, XM_047422027.1:c.1794A>T, XM_047422026.1:c.1731A>T, XM_047422029.1:c.1713A>T, XM_047422030.1:c.1710A>T, XM_047422032.1:c.1707A>T, XM_047422044.1:c.1578A>T, XM_047422033.1:c.1692A>T, XM_047422035.1:c.1692A>T, XM_047422038.1:c.1731A>T, XM_047422040.1:c.1713A>T, XM_047422041.1:c.1710A>T, XM_047422043.1:c.1692A>T, XM_047422045.1:c.1584A>T, XM_047422050.1:c.1323A>T, XM_047422046.1:c.1623A>T, XM_047422052.1:c.1323A>T, XM_047422054.1:c.1221A>T

                              15.

                              rs1478713657 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                8:140890564 (GRCh38)
                                8:141900663 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:140890563:A:G
                                Gene:
                                PTK2 (Varview)
                                Functional Consequence:
                                missense_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,initiator_codon_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000008.11:g.140890564A>G, NC_000008.10:g.141900663A>G, NG_029467.2:g.115750T>C, NM_005607.5:c.240T>C, NM_005607.4:c.240T>C, NM_153831.4:c.174T>C, NM_153831.3:c.174T>C, NM_001352697.2:c.306T>C, NM_001352697.1:c.306T>C, NM_001352698.2:c.213T>C, NM_001352698.1:c.213T>C, NM_001352705.2:c.213T>C, NM_001352705.1:c.213T>C, NM_001352712.2:c.174T>C, NM_001352712.1:c.174T>C, NM_001352701.2:c.174T>C, NM_001352701.1:c.174T>C, NM_001352703.2:c.174T>C, NM_001352703.1:c.174T>C, NM_001352747.2:c.-1466T>C, NM_001352747.1:c.-1466T>C, NM_001352702.2:c.174T>C, NM_001352702.1:c.174T>C, NM_001352704.2:c.174T>C, NM_001352704.1:c.174T>C, NM_001352707.2:c.174T>C, NM_001352707.1:c.174T>C, NR_148037.2:n.568T>C, NR_148037.1:n.599T>C, NM_001352709.2:c.174T>C, NM_001352709.1:c.174T>C, NM_001352700.2:c.174T>C, NM_001352700.1:c.174T>C, NM_001352699.2:c.174T>C, NM_001352699.1:c.174T>C, NM_001352695.2:c.174T>C, NM_001352695.1:c.174T>C, NM_001199649.2:c.174T>C, NM_001199649.1:c.174T>C, NM_001352714.2:c.174T>C, NM_001352714.1:c.174T>C, NM_001352716.2:c.174T>C, NM_001352716.1:c.174T>C, NR_148036.2:n.453T>C, NR_148036.1:n.484T>C, NM_001352717.2:c.174T>C, NM_001352717.1:c.174T>C, NM_001352708.2:c.174T>C, NM_001352708.1:c.174T>C, NM_001352710.2:c.174T>C, NM_001352710.1:c.174T>C, NM_001352718.2:c.174T>C, NM_001352718.1:c.174T>C, NM_001352725.2:c.174T>C, NM_001352725.1:c.174T>C, NM_001352723.2:c.174T>C, NM_001352723.1:c.174T>C, NM_001352719.2:c.174T>C, NM_001352719.1:c.174T>C, NM_001352724.2:c.174T>C, NM_001352724.1:c.174T>C, NM_001352731.2:c.2T>C, NM_001352731.1:c.2T>C, NM_001352706.2:c.174T>C, NM_001352706.1:c.174T>C, NM_001352711.2:c.174T>C, NM_001352711.1:c.174T>C, NM_001352722.2:c.174T>C, NM_001352722.1:c.174T>C, NM_001352713.2:c.174T>C, NM_001352713.1:c.174T>C, NM_001352726.2:c.174T>C, NM_001352726.1:c.174T>C, NM_001352715.2:c.174T>C, NM_001352715.1:c.174T>C, NM_001352737.2:c.2T>C, NM_001352737.1:c.2T>C, NM_001352720.2:c.174T>C, NM_001352720.1:c.174T>C, NM_001352694.2:c.174T>C, NM_001352694.1:c.174T>C, NM_001352721.2:c.174T>C, NM_001352721.1:c.174T>C, NM_001352739.2:c.2T>C, NM_001352739.1:c.2T>C, NM_001352696.2:c.2T>C, NM_001352696.1:c.2T>C, NM_001352730.2:c.2T>C, NM_001352730.1:c.2T>C, NM_001352735.2:c.2T>C, NM_001352735.1:c.2T>C, NM_001352732.2:c.2T>C, NM_001352732.1:c.2T>C, NM_001352736.2:c.-130T>C, NM_001352736.1:c.-130T>C, NM_001352740.2:c.2T>C, NM_001352740.1:c.2T>C, NM_001352733.2:c.2T>C, NM_001352733.1:c.2T>C, NM_001352743.2:c.2T>C, NM_001352743.1:c.2T>C, NM_001352727.2:c.174T>C, NM_001352727.1:c.174T>C, NM_001352734.2:c.2T>C, NM_001352734.1:c.2T>C, NM_001352728.2:c.174T>C, NM_001352728.1:c.174T>C, NM_001316342.2:c.2T>C, NM_001316342.1:c.2T>C, NM_001352729.2:c.174T>C, NM_001352729.1:c.174T>C, NM_001352738.2:c.2T>C, NM_001352738.1:c.2T>C, NR_148038.2:n.453T>C, NR_148038.1:n.484T>C, NM_001352741.2:c.2T>C, NM_001352741.1:c.2T>C, NM_001352742.2:c.2T>C, NM_001352742.1:c.2T>C, NM_001352744.2:c.2T>C, NM_001352744.1:c.2T>C, NM_001352745.2:c.2T>C, NM_001352745.1:c.2T>C, NR_148039.2:n.453T>C, NR_148039.1:n.484T>C, NM_001352746.2:c.2T>C, NM_001352746.1:c.2T>C, NM_001352748.2:c.174T>C, NM_001352748.1:c.174T>C, NM_001387650.1:c.306T>C, NM_001387649.1:c.306T>C, NM_001387648.1:c.306T>C, NM_001387647.1:c.174T>C, NM_001387646.1:c.306T>C, NM_001387645.1:c.174T>C, NM_001387662.1:c.306T>C, NM_001387661.1:c.306T>C, NM_001387644.1:c.213T>C, NM_001387643.1:c.306T>C, NM_001387642.1:c.174T>C, NM_001387660.1:c.306T>C, NM_001387641.1:c.213T>C, NM_001387640.1:c.174T>C, NM_001387639.1:c.174T>C, NM_001387659.1:c.174T>C, NM_001387638.1:c.174T>C, NM_001387637.1:c.174T>C, NM_001387658.1:c.174T>C, NM_001387636.1:c.174T>C, NM_001387635.1:c.2T>C, NM_001387634.1:c.174T>C, NM_001387633.1:c.174T>C, NR_170673.1:n.364T>C, NM_001387632.1:c.174T>C, NM_001387631.1:c.174T>C, NM_001387630.1:c.-423T>C, NM_001387629.1:c.-714T>C, NM_001387628.1:c.174T>C, NM_001387657.1:c.174T>C, NM_001387627.1:c.174T>C, NM_001387625.1:c.174T>C, NM_001387624.1:c.174T>C, NM_001387623.1:c.2T>C, NM_001387622.1:c.174T>C, NM_001387621.1:c.-714T>C, NM_001387656.1:c.174T>C, NM_001387587.1:c.174T>C, NM_001387620.1:c.2T>C, NM_001387619.1:c.174T>C, NM_001387618.1:c.2T>C, NM_001387655.1:c.174T>C, NM_001387617.1:c.-547T>C, NM_001387616.1:c.-714T>C, NM_001387615.1:c.174T>C, NM_001387614.1:c.174T>C, NM_001387613.1:c.2T>C, NM_001387612.1:c.2T>C, NM_001387611.1:c.2T>C, NM_001387586.1:c.174T>C, NM_001387610.1:c.-256T>C, NM_001387609.1:c.2T>C, NM_001387608.1:c.2T>C, NM_001387654.1:c.2T>C, NR_170672.1:n.364T>C, NM_001387607.1:c.2T>C, NM_001387606.1:c.2T>C, NM_001387653.1:c.174T>C, NM_001387585.1:c.174T>C, NM_001387605.1:c.2T>C, NM_001387652.1:c.2T>C, NM_001387604.1:c.-547T>C, NM_001387603.1:c.2T>C, NM_001387592.1:c.-547T>C, NM_001387591.1:c.2T>C, NM_001387584.1:c.2T>C, NM_001387590.1:c.2T>C, NR_170671.1:n.364T>C, NM_001387589.1:c.213T>C, NM_001387588.1:c.174T>C, NM_001387651.1:c.174T>C, XM_024447202.2:c.327T>C, XM_024447202.1:c.327T>C, XM_024447203.2:c.327T>C, XM_024447203.1:c.327T>C, XM_024447207.2:c.327T>C, XM_024447207.1:c.327T>C, XM_024447208.2:c.327T>C, XM_024447208.1:c.327T>C, XM_024447209.2:c.327T>C, XM_024447209.1:c.327T>C, XM_047422048.1:c.-1402T>C, XM_047422019.1:c.306T>C, XM_047422021.1:c.306T>C, XM_047422028.1:c.306T>C, XM_047422031.1:c.306T>C, XM_047422034.1:c.306T>C, XM_047422036.1:c.306T>C, XM_047422037.1:c.306T>C, XM_047422020.1:c.306T>C, XM_047422047.1:c.306T>C, XM_047422016.1:c.327T>C, XM_047422017.1:c.327T>C, XM_047422018.1:c.327T>C, XM_047422022.1:c.327T>C, XM_047422049.1:c.174T>C, XM_047422023.1:c.327T>C, XM_047422024.1:c.327T>C, XM_047422025.1:c.327T>C, XM_047422039.1:c.174T>C, XM_047422053.1:c.174T>C, XM_047422027.1:c.327T>C, XM_047422026.1:c.327T>C, XM_047422029.1:c.327T>C, XM_047422030.1:c.327T>C, XM_047422032.1:c.327T>C, XM_047422044.1:c.213T>C, XM_047422033.1:c.327T>C, XM_047422035.1:c.327T>C, XM_047422038.1:c.327T>C, XM_047422040.1:c.327T>C, XM_047422041.1:c.327T>C, XM_047422043.1:c.327T>C, XM_047422045.1:c.327T>C, XM_047422050.1:c.2T>C, XM_047422046.1:c.327T>C, XM_047422052.1:c.2T>C, XM_047422054.1:c.2T>C, NP_001339660.1:p.Met1Thr, NP_001339666.1:p.Met1Thr, NP_001339668.1:p.Met1Thr, NP_001339625.1:p.Met1Thr, NP_001339659.1:p.Met1Thr, NP_001339664.1:p.Met1Thr, NP_001339661.1:p.Met1Thr, NP_001339669.1:p.Met1Thr, NP_001339662.1:p.Met1Thr, NP_001339672.1:p.Met1Thr, NP_001339663.1:p.Met1Thr, NP_001303271.1:p.Met1Thr, NP_001339667.1:p.Met1Thr, NP_001339670.1:p.Met1Thr, NP_001339671.1:p.Met1Thr, NP_001339673.1:p.Met1Thr, NP_001339674.1:p.Met1Thr, NP_001339675.1:p.Met1Thr, NP_001374564.1:p.Met1Thr, NP_001374552.1:p.Met1Thr, NP_001374549.1:p.Met1Thr, NP_001374547.1:p.Met1Thr, NP_001374542.1:p.Met1Thr, NP_001374541.1:p.Met1Thr, NP_001374540.1:p.Met1Thr, NP_001374538.1:p.Met1Thr, NP_001374537.1:p.Met1Thr, NP_001374583.1:p.Met1Thr, NP_001374536.1:p.Met1Thr, NP_001374535.1:p.Met1Thr, NP_001374534.1:p.Met1Thr, NP_001374581.1:p.Met1Thr, NP_001374532.1:p.Met1Thr, NP_001374520.1:p.Met1Thr, NP_001374513.1:p.Met1Thr, NP_001374519.1:p.Met1Thr, XP_047278006.1:p.Met1Thr, XP_047278008.1:p.Met1Thr, XP_047278010.1:p.Met1Thr

                                16.

                                rs1478663801 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  8:140846274 (GRCh38)
                                  8:141856373 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:140846273:G:A
                                  Gene:
                                  PTK2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.140846274G>A, NC_000008.10:g.141856373G>A, NG_029467.2:g.160040C>T, NM_005607.5:c.645C>T, NM_005607.4:c.645C>T, NM_153831.4:c.579C>T, NM_153831.3:c.579C>T, NM_001352697.2:c.711C>T, NM_001352697.1:c.711C>T, NM_001352698.2:c.618C>T, NM_001352698.1:c.618C>T, NM_001352705.2:c.618C>T, NM_001352705.1:c.618C>T, NM_001352712.2:c.579C>T, NM_001352712.1:c.579C>T, NM_001352701.2:c.579C>T, NM_001352701.1:c.579C>T, NM_001352703.2:c.579C>T, NM_001352703.1:c.579C>T, NM_001352747.2:c.-1061C>T, NM_001352747.1:c.-1061C>T, NM_001352702.2:c.579C>T, NM_001352702.1:c.579C>T, NM_001352704.2:c.579C>T, NM_001352704.1:c.579C>T, NM_001352707.2:c.579C>T, NM_001352707.1:c.579C>T, NR_148037.2:n.973C>T, NR_148037.1:n.1004C>T, NM_001352709.2:c.579C>T, NM_001352709.1:c.579C>T, NM_001352700.2:c.579C>T, NM_001352700.1:c.579C>T, NM_001352699.2:c.579C>T, NM_001352699.1:c.579C>T, NM_001352695.2:c.579C>T, NM_001352695.1:c.579C>T, NM_001199649.2:c.579C>T, NM_001199649.1:c.579C>T, NM_001352714.2:c.579C>T, NM_001352714.1:c.579C>T, NM_001352716.2:c.579C>T, NM_001352716.1:c.579C>T, NR_148036.2:n.858C>T, NR_148036.1:n.889C>T, NM_001352717.2:c.579C>T, NM_001352717.1:c.579C>T, NM_001352708.2:c.579C>T, NM_001352708.1:c.579C>T, NM_001352710.2:c.579C>T, NM_001352710.1:c.579C>T, NM_001352718.2:c.579C>T, NM_001352718.1:c.579C>T, NM_001352725.2:c.579C>T, NM_001352725.1:c.579C>T, NM_001352723.2:c.579C>T, NM_001352723.1:c.579C>T, NM_001352719.2:c.579C>T, NM_001352719.1:c.579C>T, NM_001352724.2:c.579C>T, NM_001352724.1:c.579C>T, NM_001352731.2:c.240C>T, NM_001352731.1:c.240C>T, NM_001352706.2:c.579C>T, NM_001352706.1:c.579C>T, NM_001352711.2:c.579C>T, NM_001352711.1:c.579C>T, NM_001352722.2:c.579C>T, NM_001352722.1:c.579C>T, NM_001352713.2:c.579C>T, NM_001352713.1:c.579C>T, NM_001352726.2:c.579C>T, NM_001352726.1:c.579C>T, NM_001352715.2:c.579C>T, NM_001352715.1:c.579C>T, NM_001352737.2:c.240C>T, NM_001352737.1:c.240C>T, NM_001352720.2:c.579C>T, NM_001352720.1:c.579C>T, NM_001352694.2:c.579C>T, NM_001352694.1:c.579C>T, NM_001352721.2:c.579C>T, NM_001352721.1:c.579C>T, NM_001352739.2:c.240C>T, NM_001352739.1:c.240C>T, NM_001352696.2:c.240C>T, NM_001352696.1:c.240C>T, NM_001352730.2:c.240C>T, NM_001352730.1:c.240C>T, NM_001352732.2:c.240C>T, NM_001352732.1:c.240C>T, NM_001352736.2:c.276C>T, NM_001352736.1:c.276C>T, NM_001352740.2:c.240C>T, NM_001352740.1:c.240C>T, NM_001352733.2:c.240C>T, NM_001352733.1:c.240C>T, NM_001352743.2:c.240C>T, NM_001352743.1:c.240C>T, NM_001352727.2:c.579C>T, NM_001352727.1:c.579C>T, NM_001352734.2:c.240C>T, NM_001352734.1:c.240C>T, NM_001352728.2:c.579C>T, NM_001352728.1:c.579C>T, NM_001316342.2:c.240C>T, NM_001316342.1:c.240C>T, NM_001352729.2:c.579C>T, NM_001352729.1:c.579C>T, NM_001352738.2:c.240C>T, NM_001352738.1:c.240C>T, NR_148038.2:n.691C>T, NR_148038.1:n.722C>T, NM_001352741.2:c.240C>T, NM_001352741.1:c.240C>T, NM_001352744.2:c.240C>T, NM_001352744.1:c.240C>T, NM_001352745.2:c.240C>T, NM_001352745.1:c.240C>T, NR_148039.2:n.691C>T, NR_148039.1:n.722C>T, NM_001352748.2:c.579C>T, NM_001352748.1:c.579C>T, NM_001387650.1:c.711C>T, NM_001387649.1:c.711C>T, NM_001387648.1:c.711C>T, NM_001387647.1:c.579C>T, NM_001387646.1:c.711C>T, NM_001387645.1:c.579C>T, NM_001387662.1:c.711C>T, NM_001387661.1:c.711C>T, NM_001387644.1:c.618C>T, NM_001387643.1:c.711C>T, NM_001387642.1:c.579C>T, NM_001387660.1:c.711C>T, NM_001387641.1:c.618C>T, NM_001387640.1:c.579C>T, NM_001387639.1:c.579C>T, NM_001387659.1:c.579C>T, NM_001387638.1:c.579C>T, NM_001387637.1:c.579C>T, NM_001387658.1:c.579C>T, NM_001387636.1:c.579C>T, NM_001387635.1:c.240C>T, NM_001387634.1:c.579C>T, NM_001387633.1:c.579C>T, NR_170673.1:n.769C>T, NM_001387632.1:c.579C>T, NM_001387631.1:c.579C>T, NM_001387630.1:c.-18C>T, NM_001387629.1:c.-309C>T, NM_001387628.1:c.579C>T, NM_001387657.1:c.579C>T, NM_001387627.1:c.579C>T, NM_001387625.1:c.579C>T, NM_001387624.1:c.579C>T, NM_001387623.1:c.240C>T, NM_001387622.1:c.579C>T, NM_001387621.1:c.-309C>T, NM_001387656.1:c.579C>T, NM_001387587.1:c.579C>T, NM_001387620.1:c.240C>T, NM_001387619.1:c.579C>T, NM_001387618.1:c.240C>T, NM_001387655.1:c.579C>T, NM_001387617.1:c.-309C>T, NM_001387616.1:c.-309C>T, NM_001387615.1:c.579C>T, NM_001387614.1:c.579C>T, NM_001387613.1:c.240C>T, NM_001387612.1:c.240C>T, NM_001387611.1:c.240C>T, NM_001387586.1:c.579C>T, NM_001387610.1:c.-18C>T, NM_001387609.1:c.240C>T, NM_001387608.1:c.240C>T, NM_001387654.1:c.240C>T, NR_170672.1:n.769C>T, NM_001387607.1:c.240C>T, NM_001387606.1:c.240C>T, NM_001387653.1:c.579C>T, NM_001387585.1:c.579C>T, NM_001387605.1:c.240C>T, NM_001387652.1:c.240C>T, NM_001387604.1:c.-309C>T, NM_001387603.1:c.240C>T, NM_001387592.1:c.-309C>T, NM_001387591.1:c.240C>T, NM_001387584.1:c.240C>T, NM_001387590.1:c.240C>T, NR_170671.1:n.602C>T, XM_024447202.2:c.732C>T, XM_024447202.1:c.732C>T, XM_024447203.2:c.732C>T, XM_024447203.1:c.732C>T, XM_024447207.2:c.732C>T, XM_024447207.1:c.732C>T, XM_024447208.2:c.732C>T, XM_024447208.1:c.732C>T, XM_024447209.2:c.732C>T, XM_024447209.1:c.732C>T, XM_047422048.1:c.276C>T, XM_047422019.1:c.711C>T, XM_047422021.1:c.711C>T, XM_047422028.1:c.711C>T, XM_047422031.1:c.711C>T, XM_047422034.1:c.711C>T, XM_047422036.1:c.711C>T, XM_047422037.1:c.711C>T, XM_047422020.1:c.711C>T, XM_047422047.1:c.711C>T, XM_047422016.1:c.732C>T, XM_047422017.1:c.732C>T, XM_047422018.1:c.732C>T, XM_047422022.1:c.732C>T, XM_047422049.1:c.579C>T, XM_047422023.1:c.732C>T, XM_047422024.1:c.732C>T, XM_047422025.1:c.732C>T, XM_047422039.1:c.579C>T, XM_047422053.1:c.579C>T, XM_047422027.1:c.732C>T, XM_047422026.1:c.732C>T, XM_047422029.1:c.732C>T, XM_047422030.1:c.732C>T, XM_047422032.1:c.732C>T, XM_047422044.1:c.618C>T, XM_047422033.1:c.732C>T, XM_047422035.1:c.732C>T, XM_047422038.1:c.732C>T, XM_047422040.1:c.732C>T, XM_047422041.1:c.732C>T, XM_047422043.1:c.732C>T, XM_047422045.1:c.732C>T, XM_047422050.1:c.240C>T, XM_047422046.1:c.732C>T, XM_047422052.1:c.240C>T, XM_047422054.1:c.240C>T

                                  17.

                                  rs1477797368 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    8:140846644 (GRCh38)
                                    8:141856743 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:140846643:T:C
                                    Gene:
                                    PTK2 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.140846644T>C, NC_000008.10:g.141856743T>C, NG_029467.2:g.159670A>G, NM_005607.5:c.551A>G, NM_005607.4:c.551A>G, NM_153831.4:c.485A>G, NM_153831.3:c.485A>G, NM_001352697.2:c.617A>G, NM_001352697.1:c.617A>G, NM_001352698.2:c.524A>G, NM_001352698.1:c.524A>G, NM_001352705.2:c.524A>G, NM_001352705.1:c.524A>G, NM_001352712.2:c.485A>G, NM_001352712.1:c.485A>G, NM_001352701.2:c.485A>G, NM_001352701.1:c.485A>G, NM_001352703.2:c.485A>G, NM_001352703.1:c.485A>G, NM_001352747.2:c.-1155A>G, NM_001352747.1:c.-1155A>G, NM_001352702.2:c.485A>G, NM_001352702.1:c.485A>G, NM_001352704.2:c.485A>G, NM_001352704.1:c.485A>G, NM_001352707.2:c.485A>G, NM_001352707.1:c.485A>G, NR_148037.2:n.879A>G, NR_148037.1:n.910A>G, NM_001352709.2:c.485A>G, NM_001352709.1:c.485A>G, NM_001352700.2:c.485A>G, NM_001352700.1:c.485A>G, NM_001352699.2:c.485A>G, NM_001352699.1:c.485A>G, NM_001352695.2:c.485A>G, NM_001352695.1:c.485A>G, NM_001199649.2:c.485A>G, NM_001199649.1:c.485A>G, NM_001352714.2:c.485A>G, NM_001352714.1:c.485A>G, NM_001352716.2:c.485A>G, NM_001352716.1:c.485A>G, NR_148036.2:n.764A>G, NR_148036.1:n.795A>G, NM_001352717.2:c.485A>G, NM_001352717.1:c.485A>G, NM_001352708.2:c.485A>G, NM_001352708.1:c.485A>G, NM_001352710.2:c.485A>G, NM_001352710.1:c.485A>G, NM_001352718.2:c.485A>G, NM_001352718.1:c.485A>G, NM_001352725.2:c.485A>G, NM_001352725.1:c.485A>G, NM_001352723.2:c.485A>G, NM_001352723.1:c.485A>G, NM_001352719.2:c.485A>G, NM_001352719.1:c.485A>G, NM_001352724.2:c.485A>G, NM_001352724.1:c.485A>G, NM_001352731.2:c.146A>G, NM_001352731.1:c.146A>G, NM_001352706.2:c.485A>G, NM_001352706.1:c.485A>G, NM_001352711.2:c.485A>G, NM_001352711.1:c.485A>G, NM_001352722.2:c.485A>G, NM_001352722.1:c.485A>G, NM_001352713.2:c.485A>G, NM_001352713.1:c.485A>G, NM_001352726.2:c.485A>G, NM_001352726.1:c.485A>G, NM_001352715.2:c.485A>G, NM_001352715.1:c.485A>G, NM_001352737.2:c.146A>G, NM_001352737.1:c.146A>G, NM_001352720.2:c.485A>G, NM_001352720.1:c.485A>G, NM_001352694.2:c.485A>G, NM_001352694.1:c.485A>G, NM_001352721.2:c.485A>G, NM_001352721.1:c.485A>G, NM_001352739.2:c.146A>G, NM_001352739.1:c.146A>G, NM_001352696.2:c.146A>G, NM_001352696.1:c.146A>G, NM_001352730.2:c.146A>G, NM_001352730.1:c.146A>G, NM_001352735.2:c.146A>G, NM_001352735.1:c.146A>G, NM_001352732.2:c.146A>G, NM_001352732.1:c.146A>G, NM_001352736.2:c.182A>G, NM_001352736.1:c.182A>G, NM_001352740.2:c.146A>G, NM_001352740.1:c.146A>G, NM_001352733.2:c.146A>G, NM_001352733.1:c.146A>G, NM_001352743.2:c.146A>G, NM_001352743.1:c.146A>G, NM_001352727.2:c.485A>G, NM_001352727.1:c.485A>G, NM_001352734.2:c.146A>G, NM_001352734.1:c.146A>G, NM_001352728.2:c.485A>G, NM_001352728.1:c.485A>G, NM_001316342.2:c.146A>G, NM_001316342.1:c.146A>G, NM_001352729.2:c.485A>G, NM_001352729.1:c.485A>G, NM_001352738.2:c.146A>G, NM_001352738.1:c.146A>G, NR_148038.2:n.597A>G, NR_148038.1:n.628A>G, NM_001352741.2:c.146A>G, NM_001352741.1:c.146A>G, NM_001352742.2:c.146A>G, NM_001352742.1:c.146A>G, NM_001352744.2:c.146A>G, NM_001352744.1:c.146A>G, NM_001352745.2:c.146A>G, NM_001352745.1:c.146A>G, NR_148039.2:n.597A>G, NR_148039.1:n.628A>G, NM_001352746.2:c.146A>G, NM_001352746.1:c.146A>G, NM_001352748.2:c.485A>G, NM_001352748.1:c.485A>G, NM_001387650.1:c.617A>G, NM_001387649.1:c.617A>G, NM_001387648.1:c.617A>G, NM_001387647.1:c.485A>G, NM_001387646.1:c.617A>G, NM_001387645.1:c.485A>G, NM_001387662.1:c.617A>G, NM_001387661.1:c.617A>G, NM_001387644.1:c.524A>G, NM_001387643.1:c.617A>G, NM_001387642.1:c.485A>G, NM_001387660.1:c.617A>G, NM_001387641.1:c.524A>G, NM_001387640.1:c.485A>G, NM_001387639.1:c.485A>G, NM_001387659.1:c.485A>G, NM_001387638.1:c.485A>G, NM_001387637.1:c.485A>G, NM_001387658.1:c.485A>G, NM_001387636.1:c.485A>G, NM_001387635.1:c.146A>G, NM_001387634.1:c.485A>G, NM_001387633.1:c.485A>G, NR_170673.1:n.675A>G, NM_001387632.1:c.485A>G, NM_001387631.1:c.485A>G, NM_001387630.1:c.-112A>G, NM_001387629.1:c.-403A>G, NM_001387628.1:c.485A>G, NM_001387657.1:c.485A>G, NM_001387627.1:c.485A>G, NM_001387625.1:c.485A>G, NM_001387624.1:c.485A>G, NM_001387623.1:c.146A>G, NM_001387622.1:c.485A>G, NM_001387621.1:c.-403A>G, NM_001387656.1:c.485A>G, NM_001387587.1:c.485A>G, NM_001387620.1:c.146A>G, NM_001387619.1:c.485A>G, NM_001387618.1:c.146A>G, NM_001387655.1:c.485A>G, NM_001387617.1:c.-403A>G, NM_001387616.1:c.-403A>G, NM_001387615.1:c.485A>G, NM_001387614.1:c.485A>G, NM_001387613.1:c.146A>G, NM_001387612.1:c.146A>G, NM_001387611.1:c.146A>G, NM_001387586.1:c.485A>G, NM_001387610.1:c.-112A>G, NM_001387609.1:c.146A>G, NM_001387608.1:c.146A>G, NM_001387654.1:c.146A>G, NR_170672.1:n.675A>G, NM_001387607.1:c.146A>G, NM_001387606.1:c.146A>G, NM_001387653.1:c.485A>G, NM_001387585.1:c.485A>G, NM_001387605.1:c.146A>G, NM_001387652.1:c.146A>G, NM_001387604.1:c.-403A>G, NM_001387603.1:c.146A>G, NM_001387592.1:c.-403A>G, NM_001387591.1:c.146A>G, NM_001387584.1:c.146A>G, NM_001387590.1:c.146A>G, NR_170671.1:n.508A>G, XM_024447202.2:c.638A>G, XM_024447202.1:c.638A>G, XM_024447203.2:c.638A>G, XM_024447203.1:c.638A>G, XM_024447207.2:c.638A>G, XM_024447207.1:c.638A>G, XM_024447208.2:c.638A>G, XM_024447208.1:c.638A>G, XM_024447209.2:c.638A>G, XM_024447209.1:c.638A>G, XM_047422048.1:c.182A>G, XM_047422019.1:c.617A>G, XM_047422021.1:c.617A>G, XM_047422028.1:c.617A>G, XM_047422031.1:c.617A>G, XM_047422034.1:c.617A>G, XM_047422036.1:c.617A>G, XM_047422037.1:c.617A>G, XM_047422020.1:c.617A>G, XM_047422047.1:c.617A>G, XM_047422016.1:c.638A>G, XM_047422017.1:c.638A>G, XM_047422018.1:c.638A>G, XM_047422022.1:c.638A>G, XM_047422049.1:c.485A>G, XM_047422023.1:c.638A>G, XM_047422024.1:c.638A>G, XM_047422025.1:c.638A>G, XM_047422039.1:c.485A>G, XM_047422053.1:c.485A>G, XM_047422027.1:c.638A>G, XM_047422026.1:c.638A>G, XM_047422029.1:c.638A>G, XM_047422030.1:c.638A>G, XM_047422032.1:c.638A>G, XM_047422044.1:c.524A>G, XM_047422033.1:c.638A>G, XM_047422035.1:c.638A>G, XM_047422038.1:c.638A>G, XM_047422040.1:c.638A>G, XM_047422041.1:c.638A>G, XM_047422043.1:c.638A>G, XM_047422045.1:c.638A>G, XM_047422050.1:c.146A>G, XM_047422046.1:c.638A>G, XM_047422052.1:c.146A>G, XM_047422054.1:c.146A>G, NP_005598.3:p.Gln184Arg, NP_722560.1:p.Gln162Arg, NP_001339626.1:p.Gln206Arg, NP_001339627.1:p.Gln175Arg, NP_001339634.1:p.Gln175Arg, NP_001339641.1:p.Gln162Arg, NP_001339630.1:p.Gln162Arg, NP_001339632.1:p.Gln162Arg, NP_001339631.1:p.Gln162Arg, NP_001339633.1:p.Gln162Arg, NP_001339636.1:p.Gln162Arg, NP_001339638.1:p.Gln162Arg, NP_001339629.1:p.Gln162Arg, NP_001339628.1:p.Gln162Arg, NP_001339624.1:p.Gln162Arg, NP_001186578.1:p.Gln162Arg, NP_001339643.1:p.Gln162Arg, NP_001339645.1:p.Gln162Arg, NP_001339646.1:p.Gln162Arg, NP_001339637.1:p.Gln162Arg, NP_001339639.1:p.Gln162Arg, NP_001339647.1:p.Gln162Arg, NP_001339654.1:p.Gln162Arg, NP_001339652.1:p.Gln162Arg, NP_001339648.1:p.Gln162Arg, NP_001339653.1:p.Gln162Arg, NP_001339660.1:p.Gln49Arg, NP_001339635.1:p.Gln162Arg, NP_001339640.1:p.Gln162Arg, NP_001339651.1:p.Gln162Arg, NP_001339642.1:p.Gln162Arg, NP_001339655.1:p.Gln162Arg, NP_001339644.1:p.Gln162Arg, NP_001339666.1:p.Gln49Arg, NP_001339649.1:p.Gln162Arg, NP_001339623.1:p.Gln162Arg, NP_001339650.1:p.Gln162Arg, NP_001339668.1:p.Gln49Arg, NP_001339625.1:p.Gln49Arg, NP_001339659.1:p.Gln49Arg, NP_001339664.1:p.Gln49Arg, NP_001339661.1:p.Gln49Arg, NP_001339665.1:p.Gln61Arg, NP_001339669.1:p.Gln49Arg, NP_001339662.1:p.Gln49Arg, NP_001339672.1:p.Gln49Arg, NP_001339656.1:p.Gln162Arg, NP_001339663.1:p.Gln49Arg, NP_001339657.1:p.Gln162Arg, NP_001303271.1:p.Gln49Arg, NP_001339658.1:p.Gln162Arg, NP_001339667.1:p.Gln49Arg, NP_001339670.1:p.Gln49Arg, NP_001339671.1:p.Gln49Arg, NP_001339673.1:p.Gln49Arg, NP_001339674.1:p.Gln49Arg, NP_001339675.1:p.Gln49Arg, NP_001339677.1:p.Gln162Arg, NP_001374579.1:p.Gln206Arg, NP_001374578.1:p.Gln206Arg, NP_001374577.1:p.Gln206Arg, NP_001374576.1:p.Gln162Arg, NP_001374575.1:p.Gln206Arg, NP_001374574.1:p.Gln162Arg, NP_001374591.1:p.Gln206Arg, NP_001374590.1:p.Gln206Arg, NP_001374573.1:p.Gln175Arg, NP_001374572.1:p.Gln206Arg, NP_001374571.1:p.Gln162Arg, NP_001374589.1:p.Gln206Arg, NP_001374570.1:p.Gln175Arg, NP_001374569.1:p.Gln162Arg, NP_001374568.1:p.Gln162Arg, NP_001374588.1:p.Gln162Arg, NP_001374567.1:p.Gln162Arg, NP_001374566.1:p.Gln162Arg, NP_001374587.1:p.Gln162Arg, NP_001374565.1:p.Gln162Arg, NP_001374564.1:p.Gln49Arg, NP_001374563.1:p.Gln162Arg, NP_001374562.1:p.Gln162Arg, NP_001374561.1:p.Gln162Arg, NP_001374560.1:p.Gln162Arg, NP_001374557.1:p.Gln162Arg, NP_001374586.1:p.Gln162Arg, NP_001374556.1:p.Gln162Arg, NP_001374554.1:p.Gln162Arg, NP_001374553.1:p.Gln162Arg, NP_001374552.1:p.Gln49Arg, NP_001374551.1:p.Gln162Arg, NP_001374585.1:p.Gln162Arg, NP_001374516.1:p.Gln162Arg, NP_001374549.1:p.Gln49Arg, NP_001374548.1:p.Gln162Arg, NP_001374547.1:p.Gln49Arg, NP_001374584.1:p.Gln162Arg, NP_001374544.1:p.Gln162Arg, NP_001374543.1:p.Gln162Arg, NP_001374542.1:p.Gln49Arg, NP_001374541.1:p.Gln49Arg, NP_001374540.1:p.Gln49Arg, NP_001374515.1:p.Gln162Arg, NP_001374538.1:p.Gln49Arg, NP_001374537.1:p.Gln49Arg, NP_001374583.1:p.Gln49Arg, NP_001374536.1:p.Gln49Arg, NP_001374535.1:p.Gln49Arg, NP_001374582.1:p.Gln162Arg, NP_001374514.1:p.Gln162Arg, NP_001374534.1:p.Gln49Arg, NP_001374581.1:p.Gln49Arg, NP_001374532.1:p.Gln49Arg, NP_001374520.1:p.Gln49Arg, NP_001374513.1:p.Gln49Arg, NP_001374519.1:p.Gln49Arg, XP_024302970.1:p.Gln213Arg, XP_024302971.1:p.Gln213Arg, XP_024302975.1:p.Gln213Arg, XP_024302976.1:p.Gln213Arg, XP_024302977.1:p.Gln213Arg, XP_047278004.1:p.Gln61Arg, XP_047277975.1:p.Gln206Arg, XP_047277977.1:p.Gln206Arg, XP_047277984.1:p.Gln206Arg, XP_047277987.1:p.Gln206Arg, XP_047277990.1:p.Gln206Arg, XP_047277992.1:p.Gln206Arg, XP_047277993.1:p.Gln206Arg, XP_047277976.1:p.Gln206Arg, XP_047278003.1:p.Gln206Arg, XP_047277972.1:p.Gln213Arg, XP_047277973.1:p.Gln213Arg, XP_047277974.1:p.Gln213Arg, XP_047277978.1:p.Gln213Arg, XP_047278005.1:p.Gln162Arg, XP_047277979.1:p.Gln213Arg, XP_047277980.1:p.Gln213Arg, XP_047277981.1:p.Gln213Arg, XP_047277995.1:p.Gln162Arg, XP_047278009.1:p.Gln162Arg, XP_047277983.1:p.Gln213Arg, XP_047277982.1:p.Gln213Arg, XP_047277985.1:p.Gln213Arg, XP_047277986.1:p.Gln213Arg, XP_047277988.1:p.Gln213Arg, XP_047278000.1:p.Gln175Arg, XP_047277989.1:p.Gln213Arg, XP_047277991.1:p.Gln213Arg, XP_047277994.1:p.Gln213Arg, XP_047277996.1:p.Gln213Arg, XP_047277997.1:p.Gln213Arg, XP_047277999.1:p.Gln213Arg, XP_047278001.1:p.Gln213Arg, XP_047278006.1:p.Gln49Arg, XP_047278002.1:p.Gln213Arg, XP_047278008.1:p.Gln49Arg, XP_047278010.1:p.Gln49Arg

                                    18.

                                    rs1475725139 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      8:140800474 (GRCh38)
                                      8:141810573 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:140800473:T:C
                                      Gene:
                                      PTK2 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000111/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.140800474T>C, NC_000008.10:g.141810573T>C, NG_029467.2:g.205840A>G, NM_005607.5:c.1144A>G, NM_005607.4:c.1144A>G, NM_153831.4:c.1078A>G, NM_153831.3:c.1078A>G, NM_001352697.2:c.1210A>G, NM_001352697.1:c.1210A>G, NM_001352698.2:c.1117A>G, NM_001352698.1:c.1117A>G, NM_001352705.2:c.1117A>G, NM_001352705.1:c.1117A>G, NM_001352712.2:c.1078A>G, NM_001352712.1:c.1078A>G, NM_001352701.2:c.1078A>G, NM_001352701.1:c.1078A>G, NM_001352703.2:c.1078A>G, NM_001352703.1:c.1078A>G, NM_001352747.2:c.-562A>G, NM_001352747.1:c.-562A>G, NM_001352702.2:c.1078A>G, NM_001352702.1:c.1078A>G, NM_001352704.2:c.1078A>G, NM_001352704.1:c.1078A>G, NM_001352707.2:c.1078A>G, NM_001352707.1:c.1078A>G, NR_148037.2:n.1472A>G, NR_148037.1:n.1503A>G, NM_001352709.2:c.1078A>G, NM_001352709.1:c.1078A>G, NM_001352700.2:c.1078A>G, NM_001352700.1:c.1078A>G, NM_001352699.2:c.1078A>G, NM_001352699.1:c.1078A>G, NM_001352695.2:c.1078A>G, NM_001352695.1:c.1078A>G, NM_001199649.2:c.1078A>G, NM_001199649.1:c.1078A>G, NM_001352714.2:c.1078A>G, NM_001352714.1:c.1078A>G, NM_001352716.2:c.970A>G, NM_001352716.1:c.970A>G, NR_148036.2:n.1357A>G, NR_148036.1:n.1388A>G, NM_001352717.2:c.1078A>G, NM_001352717.1:c.1078A>G, NM_001352708.2:c.1078A>G, NM_001352708.1:c.1078A>G, NM_001352710.2:c.1078A>G, NM_001352710.1:c.1078A>G, NM_001352718.2:c.1078A>G, NM_001352718.1:c.1078A>G, NM_001352725.2:c.1078A>G, NM_001352725.1:c.1078A>G, NM_001352723.2:c.1078A>G, NM_001352723.1:c.1078A>G, NM_001352719.2:c.1078A>G, NM_001352719.1:c.1078A>G, NM_001352724.2:c.1078A>G, NM_001352724.1:c.1078A>G, NM_001352731.2:c.739A>G, NM_001352731.1:c.739A>G, NM_001352706.2:c.1078A>G, NM_001352706.1:c.1078A>G, NM_001352711.2:c.1078A>G, NM_001352711.1:c.1078A>G, NM_001352722.2:c.1078A>G, NM_001352722.1:c.1078A>G, NM_001352713.2:c.1078A>G, NM_001352713.1:c.1078A>G, NM_001352726.2:c.970A>G, NM_001352726.1:c.970A>G, NM_001352715.2:c.1078A>G, NM_001352715.1:c.1078A>G, NM_001352737.2:c.739A>G, NM_001352737.1:c.739A>G, NM_001352720.2:c.1078A>G, NM_001352720.1:c.1078A>G, NM_001352694.2:c.1078A>G, NM_001352694.1:c.1078A>G, NM_001352721.2:c.1078A>G, NM_001352721.1:c.1078A>G, NM_001352739.2:c.739A>G, NM_001352739.1:c.739A>G, NM_001352696.2:c.739A>G, NM_001352696.1:c.739A>G, NM_001352730.2:c.739A>G, NM_001352730.1:c.739A>G, NM_001352735.2:c.676A>G, NM_001352735.1:c.676A>G, NM_001352732.2:c.739A>G, NM_001352732.1:c.739A>G, NM_001352736.2:c.775A>G, NM_001352736.1:c.775A>G, NM_001352740.2:c.739A>G, NM_001352740.1:c.739A>G, NM_001352733.2:c.739A>G, NM_001352733.1:c.739A>G, NM_001352743.2:c.739A>G, NM_001352743.1:c.739A>G, NM_001352727.2:c.1078A>G, NM_001352727.1:c.1078A>G, NM_001352734.2:c.739A>G, NM_001352734.1:c.739A>G, NM_001352728.2:c.970A>G, NM_001352728.1:c.970A>G, NM_001316342.2:c.739A>G, NM_001316342.1:c.739A>G, NM_001352729.2:c.970A>G, NM_001352729.1:c.970A>G, NM_001352738.2:c.739A>G, NM_001352738.1:c.739A>G, NR_148038.2:n.1190A>G, NR_148038.1:n.1221A>G, NM_001352741.2:c.739A>G, NM_001352741.1:c.739A>G, NM_001352742.2:c.676A>G, NM_001352742.1:c.676A>G, NM_001352744.2:c.631A>G, NM_001352744.1:c.631A>G, NM_001352745.2:c.631A>G, NM_001352745.1:c.631A>G, NR_148039.2:n.1082A>G, NR_148039.1:n.1113A>G, NM_001352746.2:c.568A>G, NM_001352746.1:c.568A>G, NM_001352748.2:c.1078A>G, NM_001352748.1:c.1078A>G, NM_001387650.1:c.1210A>G, NM_001387649.1:c.1210A>G, NM_001387648.1:c.1210A>G, NM_001387647.1:c.1078A>G, NM_001387646.1:c.1210A>G, NM_001387645.1:c.1078A>G, NM_001387662.1:c.1210A>G, NM_001387661.1:c.1210A>G, NM_001387644.1:c.1117A>G, NM_001387643.1:c.1210A>G, NM_001387642.1:c.1078A>G, NM_001387660.1:c.1210A>G, NM_001387641.1:c.1117A>G, NM_001387640.1:c.1078A>G, NM_001387639.1:c.1078A>G, NM_001387659.1:c.1078A>G, NM_001387638.1:c.1078A>G, NM_001387637.1:c.1078A>G, NM_001387658.1:c.1078A>G, NM_001387636.1:c.1078A>G, NM_001387635.1:c.631A>G, NM_001387634.1:c.1078A>G, NM_001387633.1:c.1078A>G, NR_170673.1:n.1268A>G, NM_001387632.1:c.1078A>G, NM_001387631.1:c.970A>G, NM_001387630.1:c.556A>G, NM_001387629.1:c.136A>G, NM_001387628.1:c.1078A>G, NM_001387657.1:c.1078A>G, NM_001387627.1:c.1078A>G, NM_001387625.1:c.1078A>G, NM_001387624.1:c.970A>G, NM_001387623.1:c.739A>G, NM_001387622.1:c.1078A>G, NM_001387621.1:c.136A>G, NM_001387656.1:c.1078A>G, NM_001387587.1:c.1078A>G, NM_001387620.1:c.739A>G, NM_001387619.1:c.970A>G, NM_001387618.1:c.739A>G, NM_001387655.1:c.1078A>G, NM_001387617.1:c.136A>G, NM_001387616.1:c.136A>G, NM_001387615.1:c.970A>G, NM_001387614.1:c.1078A>G, NM_001387613.1:c.739A>G, NM_001387612.1:c.739A>G, NM_001387611.1:c.739A>G, NM_001387586.1:c.1078A>G, NM_001387610.1:c.556A>G, NM_001387609.1:c.739A>G, NM_001387608.1:c.739A>G, NM_001387654.1:c.739A>G, NR_170672.1:n.1268A>G, NM_001387607.1:c.739A>G, NM_001387606.1:c.739A>G, NM_001387653.1:c.970A>G, NM_001387585.1:c.1078A>G, NM_001387605.1:c.739A>G, NM_001387652.1:c.739A>G, NM_001387604.1:c.136A>G, NM_001387603.1:c.739A>G, NM_001387592.1:c.136A>G, NM_001387591.1:c.739A>G, NM_001387584.1:c.739A>G, NM_001387590.1:c.631A>G, NR_170671.1:n.1101A>G, XM_024447202.2:c.1231A>G, XM_024447202.1:c.1231A>G, XM_024447203.2:c.1231A>G, XM_024447203.1:c.1231A>G, XM_024447207.2:c.1231A>G, XM_024447207.1:c.1231A>G, XM_024447208.2:c.1123A>G, XM_024447208.1:c.1123A>G, XM_024447209.2:c.1123A>G, XM_024447209.1:c.1123A>G, XM_047422048.1:c.775A>G, XM_047422019.1:c.1210A>G, XM_047422021.1:c.1210A>G, XM_047422028.1:c.1210A>G, XM_047422031.1:c.1210A>G, XM_047422034.1:c.1210A>G, XM_047422036.1:c.1210A>G, XM_047422037.1:c.1210A>G, XM_047422020.1:c.1210A>G, XM_047422047.1:c.1102A>G, XM_047422016.1:c.1231A>G, XM_047422017.1:c.1231A>G, XM_047422018.1:c.1231A>G, XM_047422022.1:c.1231A>G, XM_047422049.1:c.1078A>G, XM_047422023.1:c.1231A>G, XM_047422024.1:c.1231A>G, XM_047422025.1:c.1231A>G, XM_047422039.1:c.1078A>G, XM_047422053.1:c.1078A>G, XM_047422027.1:c.1231A>G, XM_047422026.1:c.1231A>G, XM_047422029.1:c.1231A>G, XM_047422030.1:c.1231A>G, XM_047422032.1:c.1123A>G, XM_047422044.1:c.1117A>G, XM_047422033.1:c.1231A>G, XM_047422035.1:c.1231A>G, XM_047422038.1:c.1231A>G, XM_047422040.1:c.1231A>G, XM_047422041.1:c.1231A>G, XM_047422043.1:c.1231A>G, XM_047422045.1:c.1123A>G, XM_047422050.1:c.739A>G, XM_047422046.1:c.1123A>G, XM_047422052.1:c.739A>G, XM_047422054.1:c.739A>G, NP_005598.3:p.Ile382Val, NP_722560.1:p.Ile360Val, NP_001339626.1:p.Ile404Val, NP_001339627.1:p.Ile373Val, NP_001339634.1:p.Ile373Val, NP_001339641.1:p.Ile360Val, NP_001339630.1:p.Ile360Val, NP_001339632.1:p.Ile360Val, NP_001339631.1:p.Ile360Val, NP_001339633.1:p.Ile360Val, NP_001339636.1:p.Ile360Val, NP_001339638.1:p.Ile360Val, NP_001339629.1:p.Ile360Val, NP_001339628.1:p.Ile360Val, NP_001339624.1:p.Ile360Val, NP_001186578.1:p.Ile360Val, NP_001339643.1:p.Ile360Val, NP_001339645.1:p.Ile324Val, NP_001339646.1:p.Ile360Val, NP_001339637.1:p.Ile360Val, NP_001339639.1:p.Ile360Val, NP_001339647.1:p.Ile360Val, NP_001339654.1:p.Ile360Val, NP_001339652.1:p.Ile360Val, NP_001339648.1:p.Ile360Val, NP_001339653.1:p.Ile360Val, NP_001339660.1:p.Ile247Val, NP_001339635.1:p.Ile360Val, NP_001339640.1:p.Ile360Val, NP_001339651.1:p.Ile360Val, NP_001339642.1:p.Ile360Val, NP_001339655.1:p.Ile324Val, NP_001339644.1:p.Ile360Val, NP_001339666.1:p.Ile247Val, NP_001339649.1:p.Ile360Val, NP_001339623.1:p.Ile360Val, NP_001339650.1:p.Ile360Val, NP_001339668.1:p.Ile247Val, NP_001339625.1:p.Ile247Val, NP_001339659.1:p.Ile247Val, NP_001339664.1:p.Ile226Val, NP_001339661.1:p.Ile247Val, NP_001339665.1:p.Ile259Val, NP_001339669.1:p.Ile247Val, NP_001339662.1:p.Ile247Val, NP_001339672.1:p.Ile247Val, NP_001339656.1:p.Ile360Val, NP_001339663.1:p.Ile247Val, NP_001339657.1:p.Ile324Val, NP_001303271.1:p.Ile247Val, NP_001339658.1:p.Ile324Val, NP_001339667.1:p.Ile247Val, NP_001339670.1:p.Ile247Val, NP_001339671.1:p.Ile226Val, NP_001339673.1:p.Ile211Val, NP_001339674.1:p.Ile211Val, NP_001339675.1:p.Ile190Val, NP_001339677.1:p.Ile360Val, NP_001374579.1:p.Ile404Val, NP_001374578.1:p.Ile404Val, NP_001374577.1:p.Ile404Val, NP_001374576.1:p.Ile360Val, NP_001374575.1:p.Ile404Val, NP_001374574.1:p.Ile360Val, NP_001374591.1:p.Ile404Val, NP_001374590.1:p.Ile404Val, NP_001374573.1:p.Ile373Val, NP_001374572.1:p.Ile404Val, NP_001374571.1:p.Ile360Val, NP_001374589.1:p.Ile404Val, NP_001374570.1:p.Ile373Val, NP_001374569.1:p.Ile360Val, NP_001374568.1:p.Ile360Val, NP_001374588.1:p.Ile360Val, NP_001374567.1:p.Ile360Val, NP_001374566.1:p.Ile360Val, NP_001374587.1:p.Ile360Val, NP_001374565.1:p.Ile360Val, NP_001374564.1:p.Ile211Val, NP_001374563.1:p.Ile360Val, NP_001374562.1:p.Ile360Val, NP_001374561.1:p.Ile360Val, NP_001374560.1:p.Ile324Val, NP_001374559.1:p.Ile186Val, NP_001374558.1:p.Ile46Val, NP_001374557.1:p.Ile360Val, NP_001374586.1:p.Ile360Val, NP_001374556.1:p.Ile360Val, NP_001374554.1:p.Ile360Val, NP_001374553.1:p.Ile324Val, NP_001374552.1:p.Ile247Val, NP_001374551.1:p.Ile360Val, NP_001374550.1:p.Ile46Val, NP_001374585.1:p.Ile360Val, NP_001374516.1:p.Ile360Val, NP_001374549.1:p.Ile247Val, NP_001374548.1:p.Ile324Val, NP_001374547.1:p.Ile247Val, NP_001374584.1:p.Ile360Val, NP_001374546.1:p.Ile46Val, NP_001374545.1:p.Ile46Val, NP_001374544.1:p.Ile324Val, NP_001374543.1:p.Ile360Val, NP_001374542.1:p.Ile247Val, NP_001374541.1:p.Ile247Val, NP_001374540.1:p.Ile247Val, NP_001374515.1:p.Ile360Val, NP_001374539.1:p.Ile186Val, NP_001374538.1:p.Ile247Val, NP_001374537.1:p.Ile247Val, NP_001374583.1:p.Ile247Val, NP_001374536.1:p.Ile247Val, NP_001374535.1:p.Ile247Val, NP_001374582.1:p.Ile324Val, NP_001374514.1:p.Ile360Val, NP_001374534.1:p.Ile247Val, NP_001374581.1:p.Ile247Val, NP_001374533.1:p.Ile46Val, NP_001374532.1:p.Ile247Val, NP_001374521.1:p.Ile46Val, NP_001374520.1:p.Ile247Val, NP_001374513.1:p.Ile247Val, NP_001374519.1:p.Ile211Val, XP_024302970.1:p.Ile411Val, XP_024302971.1:p.Ile411Val, XP_024302975.1:p.Ile411Val, XP_024302976.1:p.Ile375Val, XP_024302977.1:p.Ile375Val, XP_047278004.1:p.Ile259Val, XP_047277975.1:p.Ile404Val, XP_047277977.1:p.Ile404Val, XP_047277984.1:p.Ile404Val, XP_047277987.1:p.Ile404Val, XP_047277990.1:p.Ile404Val, XP_047277992.1:p.Ile404Val, XP_047277993.1:p.Ile404Val, XP_047277976.1:p.Ile404Val, XP_047278003.1:p.Ile368Val, XP_047277972.1:p.Ile411Val, XP_047277973.1:p.Ile411Val, XP_047277974.1:p.Ile411Val, XP_047277978.1:p.Ile411Val, XP_047278005.1:p.Ile360Val, XP_047277979.1:p.Ile411Val, XP_047277980.1:p.Ile411Val, XP_047277981.1:p.Ile411Val, XP_047277995.1:p.Ile360Val, XP_047278009.1:p.Ile360Val, XP_047277983.1:p.Ile411Val, XP_047277982.1:p.Ile411Val, XP_047277985.1:p.Ile411Val, XP_047277986.1:p.Ile411Val, XP_047277988.1:p.Ile375Val, XP_047278000.1:p.Ile373Val, XP_047277989.1:p.Ile411Val, XP_047277991.1:p.Ile411Val, XP_047277994.1:p.Ile411Val, XP_047277996.1:p.Ile411Val, XP_047277997.1:p.Ile411Val, XP_047277999.1:p.Ile411Val, XP_047278001.1:p.Ile375Val, XP_047278006.1:p.Ile247Val, XP_047278002.1:p.Ile375Val, XP_047278008.1:p.Ile247Val, XP_047278010.1:p.Ile247Val

                                      19.

                                      rs1474745192 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        8:140789481 (GRCh38)
                                        8:141799580 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:140789480:A:G
                                        Gene:
                                        PTK2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.140789481A>G, NC_000008.10:g.141799580A>G, NG_029467.2:g.216833T>C, NM_005607.5:c.1236T>C, NM_005607.4:c.1236T>C, NM_153831.4:c.1170T>C, NM_153831.3:c.1170T>C, NM_001352697.2:c.1302T>C, NM_001352697.1:c.1302T>C, NM_001352698.2:c.1209T>C, NM_001352698.1:c.1209T>C, NM_001352705.2:c.1209T>C, NM_001352705.1:c.1209T>C, NM_001352712.2:c.1170T>C, NM_001352712.1:c.1170T>C, NM_001352701.2:c.1170T>C, NM_001352701.1:c.1170T>C, NM_001352703.2:c.1170T>C, NM_001352703.1:c.1170T>C, NM_001352747.2:c.-470T>C, NM_001352747.1:c.-470T>C, NM_001352702.2:c.1170T>C, NM_001352702.1:c.1170T>C, NM_001352704.2:c.1170T>C, NM_001352704.1:c.1170T>C, NM_001352707.2:c.1170T>C, NM_001352707.1:c.1170T>C, NR_148037.2:n.1564T>C, NR_148037.1:n.1595T>C, NM_001352709.2:c.1170T>C, NM_001352709.1:c.1170T>C, NM_001352700.2:c.1170T>C, NM_001352700.1:c.1170T>C, NM_001352699.2:c.1170T>C, NM_001352699.1:c.1170T>C, NM_001352695.2:c.1170T>C, NM_001352695.1:c.1170T>C, NM_001199649.2:c.1170T>C, NM_001199649.1:c.1170T>C, NM_001352714.2:c.1170T>C, NM_001352714.1:c.1170T>C, NM_001352716.2:c.1062T>C, NM_001352716.1:c.1062T>C, NR_148036.2:n.1449T>C, NR_148036.1:n.1480T>C, NM_001352717.2:c.1170T>C, NM_001352717.1:c.1170T>C, NM_001352708.2:c.1170T>C, NM_001352708.1:c.1170T>C, NM_001352710.2:c.1170T>C, NM_001352710.1:c.1170T>C, NM_001352718.2:c.1170T>C, NM_001352718.1:c.1170T>C, NM_001352725.2:c.1170T>C, NM_001352725.1:c.1170T>C, NM_001352723.2:c.1170T>C, NM_001352723.1:c.1170T>C, NM_001352719.2:c.1170T>C, NM_001352719.1:c.1170T>C, NM_001352724.2:c.1170T>C, NM_001352724.1:c.1170T>C, NM_001352731.2:c.831T>C, NM_001352731.1:c.831T>C, NM_001352706.2:c.1170T>C, NM_001352706.1:c.1170T>C, NM_001352711.2:c.1167T>C, NM_001352711.1:c.1167T>C, NM_001352722.2:c.1170T>C, NM_001352722.1:c.1170T>C, NM_001352713.2:c.1170T>C, NM_001352713.1:c.1170T>C, NM_001352726.2:c.1062T>C, NM_001352726.1:c.1062T>C, NM_001352715.2:c.1170T>C, NM_001352715.1:c.1170T>C, NM_001352737.2:c.831T>C, NM_001352737.1:c.831T>C, NM_001352720.2:c.1170T>C, NM_001352720.1:c.1170T>C, NM_001352694.2:c.1170T>C, NM_001352694.1:c.1170T>C, NM_001352721.2:c.1170T>C, NM_001352721.1:c.1170T>C, NM_001352739.2:c.831T>C, NM_001352739.1:c.831T>C, NM_001352696.2:c.831T>C, NM_001352696.1:c.831T>C, NM_001352730.2:c.831T>C, NM_001352730.1:c.831T>C, NM_001352735.2:c.768T>C, NM_001352735.1:c.768T>C, NM_001352732.2:c.831T>C, NM_001352732.1:c.831T>C, NM_001352736.2:c.867T>C, NM_001352736.1:c.867T>C, NM_001352740.2:c.831T>C, NM_001352740.1:c.831T>C, NM_001352733.2:c.831T>C, NM_001352733.1:c.831T>C, NM_001352743.2:c.831T>C, NM_001352743.1:c.831T>C, NM_001352727.2:c.1170T>C, NM_001352727.1:c.1170T>C, NM_001352734.2:c.831T>C, NM_001352734.1:c.831T>C, NM_001352728.2:c.1062T>C, NM_001352728.1:c.1062T>C, NM_001316342.2:c.831T>C, NM_001316342.1:c.831T>C, NM_001352729.2:c.1062T>C, NM_001352729.1:c.1062T>C, NM_001352738.2:c.831T>C, NM_001352738.1:c.831T>C, NR_148038.2:n.1282T>C, NR_148038.1:n.1313T>C, NM_001352741.2:c.831T>C, NM_001352741.1:c.831T>C, NM_001352742.2:c.768T>C, NM_001352742.1:c.768T>C, NM_001352744.2:c.723T>C, NM_001352744.1:c.723T>C, NM_001352745.2:c.723T>C, NM_001352745.1:c.723T>C, NR_148039.2:n.1174T>C, NR_148039.1:n.1205T>C, NM_001352746.2:c.660T>C, NM_001352746.1:c.660T>C, NM_001352748.2:c.1170T>C, NM_001352748.1:c.1170T>C, NM_001387650.1:c.1302T>C, NM_001387649.1:c.1302T>C, NM_001387648.1:c.1302T>C, NM_001387647.1:c.1170T>C, NM_001387646.1:c.1302T>C, NM_001387645.1:c.1170T>C, NM_001387662.1:c.1302T>C, NM_001387661.1:c.1302T>C, NM_001387644.1:c.1209T>C, NM_001387643.1:c.1302T>C, NM_001387642.1:c.1170T>C, NM_001387660.1:c.1302T>C, NM_001387641.1:c.1209T>C, NM_001387640.1:c.1170T>C, NM_001387639.1:c.1170T>C, NM_001387659.1:c.1170T>C, NM_001387638.1:c.1170T>C, NM_001387637.1:c.1170T>C, NM_001387658.1:c.1170T>C, NM_001387636.1:c.1170T>C, NM_001387635.1:c.723T>C, NM_001387634.1:c.1170T>C, NM_001387633.1:c.1170T>C, NR_170673.1:n.1360T>C, NM_001387632.1:c.1170T>C, NM_001387631.1:c.1062T>C, NM_001387630.1:c.648T>C, NM_001387629.1:c.228T>C, NM_001387628.1:c.1170T>C, NM_001387657.1:c.1170T>C, NM_001387627.1:c.1170T>C, NM_001387625.1:c.1170T>C, NM_001387624.1:c.1062T>C, NM_001387623.1:c.831T>C, NM_001387622.1:c.1170T>C, NM_001387621.1:c.228T>C, NM_001387656.1:c.1170T>C, NM_001387587.1:c.1170T>C, NM_001387620.1:c.831T>C, NM_001387619.1:c.1062T>C, NM_001387618.1:c.831T>C, NM_001387655.1:c.1170T>C, NM_001387617.1:c.228T>C, NM_001387616.1:c.228T>C, NM_001387615.1:c.1062T>C, NM_001387614.1:c.1170T>C, NM_001387613.1:c.831T>C, NM_001387612.1:c.831T>C, NM_001387611.1:c.831T>C, NM_001387586.1:c.1170T>C, NM_001387610.1:c.648T>C, NM_001387609.1:c.831T>C, NM_001387608.1:c.831T>C, NM_001387654.1:c.831T>C, NR_170672.1:n.1360T>C, NM_001387607.1:c.831T>C, NM_001387606.1:c.831T>C, NM_001387653.1:c.1062T>C, NM_001387585.1:c.1170T>C, NM_001387605.1:c.831T>C, NM_001387652.1:c.831T>C, NM_001387604.1:c.228T>C, NM_001387603.1:c.831T>C, NM_001387592.1:c.228T>C, NM_001387591.1:c.831T>C, NM_001387584.1:c.831T>C, NM_001387590.1:c.723T>C, NR_170671.1:n.1193T>C, XM_024447202.2:c.1323T>C, XM_024447202.1:c.1323T>C, XM_024447203.2:c.1323T>C, XM_024447203.1:c.1323T>C, XM_024447207.2:c.1323T>C, XM_024447207.1:c.1323T>C, XM_024447208.2:c.1215T>C, XM_024447208.1:c.1215T>C, XM_024447209.2:c.1215T>C, XM_024447209.1:c.1215T>C, XM_047422048.1:c.867T>C, XM_047422019.1:c.1302T>C, XM_047422021.1:c.1302T>C, XM_047422028.1:c.1302T>C, XM_047422031.1:c.1302T>C, XM_047422034.1:c.1302T>C, XM_047422036.1:c.1302T>C, XM_047422037.1:c.1302T>C, XM_047422020.1:c.1302T>C, XM_047422047.1:c.1194T>C, XM_047422016.1:c.1323T>C, XM_047422017.1:c.1323T>C, XM_047422018.1:c.1323T>C, XM_047422022.1:c.1323T>C, XM_047422049.1:c.1170T>C, XM_047422023.1:c.1323T>C, XM_047422024.1:c.1323T>C, XM_047422025.1:c.1323T>C, XM_047422039.1:c.1170T>C, XM_047422053.1:c.1170T>C, XM_047422027.1:c.1323T>C, XM_047422026.1:c.1323T>C, XM_047422029.1:c.1323T>C, XM_047422030.1:c.1323T>C, XM_047422032.1:c.1215T>C, XM_047422044.1:c.1209T>C, XM_047422033.1:c.1323T>C, XM_047422035.1:c.1323T>C, XM_047422038.1:c.1323T>C, XM_047422040.1:c.1323T>C, XM_047422041.1:c.1323T>C, XM_047422043.1:c.1323T>C, XM_047422045.1:c.1215T>C, XM_047422050.1:c.831T>C, XM_047422046.1:c.1215T>C, XM_047422052.1:c.831T>C, XM_047422054.1:c.831T>C

                                        20.

                                        rs1472886111 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          8:140668384 (GRCh38)
                                          8:141678483 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:140668383:A:C
                                          Gene:
                                          PTK2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:
                                          NC_000008.11:g.140668384A>C, NC_000008.10:g.141678483A>C, NG_029467.2:g.337930T>G, NM_005607.5:c.2816T>G, NM_005607.4:c.2816T>G, NM_153831.4:c.2750T>G, NM_153831.3:c.2750T>G, NM_001352697.2:c.2942T>G, NM_001352697.1:c.2942T>G, NM_001352698.2:c.2921T>G, NM_001352698.1:c.2921T>G, NM_001352705.2:c.2837T>G, NM_001352705.1:c.2837T>G, NM_001352712.2:c.2873T>G, NM_001352712.1:c.2873T>G, NM_001352701.2:c.2882T>G, NM_001352701.1:c.2882T>G, NM_001352703.2:c.2882T>G, NM_001352703.1:c.2882T>G, NM_001352747.2:c.1337T>G, NM_001352747.1:c.1337T>G, NM_001352702.2:c.2882T>G, NM_001352702.1:c.2882T>G, NM_001352704.2:c.2861T>G, NM_001352704.1:c.2861T>G, NM_001352707.2:c.2798T>G, NM_001352707.1:c.2798T>G, NR_148037.2:n.3080T>G, NR_148037.1:n.3111T>G, NM_001352709.2:c.2798T>G, NM_001352709.1:c.2798T>G, NM_001352700.2:c.2882T>G, NM_001352700.1:c.2882T>G, NM_001352699.2:c.2882T>G, NM_001352699.1:c.2882T>G, NM_001352695.2:c.2789T>G, NM_001352695.1:c.2789T>G, NM_001199649.2:c.2789T>G, NM_001199649.1:c.2789T>G, NM_001352714.2:c.2780T>G, NM_001352714.1:c.2780T>G, NM_001352716.2:c.2774T>G, NM_001352716.1:c.2774T>G, NR_148036.2:n.3049T>G, NR_148036.1:n.3080T>G, NM_001352717.2:c.2768T>G, NM_001352717.1:c.2768T>G, NM_001352708.2:c.2798T>G, NM_001352708.1:c.2798T>G, NM_001352710.2:c.2798T>G, NM_001352710.1:c.2798T>G, NM_001352718.2:c.2759T>G, NM_001352718.1:c.2759T>G, NM_001352725.2:c.2696T>G, NM_001352725.1:c.2696T>G, NM_001352723.2:c.2735T>G, NM_001352723.1:c.2735T>G, NM_001352719.2:c.2759T>G, NM_001352719.1:c.2759T>G, NM_001352724.2:c.2798T>G, NM_001352724.1:c.2798T>G, NM_001352731.2:c.2537T>G, NM_001352731.1:c.2537T>G, NM_001352706.2:c.2798T>G, NM_001352706.1:c.2798T>G, NM_001352711.2:c.2795T>G, NM_001352711.1:c.2795T>G, NM_001352722.2:c.2735T>G, NM_001352722.1:c.2735T>G, NM_001352713.2:c.2780T>G, NM_001352713.1:c.2780T>G, NM_001352726.2:c.2690T>G, NM_001352726.1:c.2690T>G, NM_001352715.2:c.2777T>G, NM_001352715.1:c.2777T>G, NM_001352737.2:c.2513T>G, NM_001352737.1:c.2513T>G, NM_001352720.2:c.2759T>G, NM_001352720.1:c.2759T>G, NM_001352694.2:c.2750T>G, NM_001352694.1:c.2750T>G, NM_001352721.2:c.2735T>G, NM_001352721.1:c.2735T>G, NM_001352739.2:c.2441T>G, NM_001352739.1:c.2441T>G, NM_001352696.2:c.2459T>G, NM_001352696.1:c.2459T>G, NM_001352730.2:c.2543T>G, NM_001352730.1:c.2543T>G, NM_001352735.2:c.2480T>G, NM_001352735.1:c.2480T>G, NM_001352732.2:c.2534T>G, NM_001352732.1:c.2534T>G, NM_001352736.2:c.2474T>G, NM_001352736.1:c.2474T>G, NM_001352740.2:c.2438T>G, NM_001352740.1:c.2438T>G, NM_001352733.2:c.2522T>G, NM_001352733.1:c.2522T>G, NM_001352743.2:c.2396T>G, NM_001352743.1:c.2396T>G, NM_001352727.2:c.2735T>G, NM_001352727.1:c.2735T>G, NM_001352734.2:c.2480T>G, NM_001352734.1:c.2480T>G, NM_001352728.2:c.2642T>G, NM_001352728.1:c.2642T>G, NM_001316342.2:c.2459T>G, NM_001316342.1:c.2459T>G, NM_001352729.2:c.2627T>G, NM_001352729.1:c.2627T>G, NM_001352738.2:c.2453T>G, NM_001352738.1:c.2453T>G, NR_148038.2:n.2798T>G, NR_148038.1:n.2829T>G, NM_001352741.2:c.2420T>G, NM_001352741.1:c.2420T>G, NM_001352742.2:c.2396T>G, NM_001352742.1:c.2396T>G, NM_001352744.2:c.2351T>G, NM_001352744.1:c.2351T>G, NM_001352745.2:c.2333T>G, NM_001352745.1:c.2333T>G, NR_148039.2:n.2690T>G, NR_148039.1:n.2721T>G, NM_001352746.2:c.2288T>G, NM_001352746.1:c.2288T>G, NM_001352749.2:c.689T>G, NM_001352749.1:c.689T>G, NM_001352750.2:c.680T>G, NM_001352750.1:c.680T>G, NM_001352751.2:c.626T>G, NM_001352751.1:c.626T>G, NM_001352752.2:c.617T>G, NM_001352752.1:c.617T>G, NM_001387650.1:c.2882T>G, NM_001387649.1:c.2930T>G, NM_001387648.1:c.2882T>G, NM_001387647.1:c.2750T>G, NM_001387646.1:c.2882T>G, NM_001387645.1:c.2750T>G, NM_001387662.1:c.2891T>G, NM_001387661.1:c.2882T>G, NM_001387644.1:c.2900T>G, NM_001387643.1:c.2882T>G, NM_001387642.1:c.2750T>G, NM_001387660.1:c.2882T>G, NM_001387641.1:c.2789T>G, NM_001387640.1:c.2819T>G, NM_001387639.1:c.2798T>G, NM_001387659.1:c.2759T>G, NM_001387638.1:c.2759T>G, NM_001387637.1:c.2750T>G, NM_001387658.1:c.2750T>G, NM_001387636.1:c.2750T>G, NM_001387635.1:c.2303T>G, NM_001387634.1:c.2777T>G, NM_001387633.1:c.2717T>G, NR_170673.1:n.3038T>G, NM_001387632.1:c.2687T>G, NM_001387631.1:c.2774T>G, NM_001387630.1:c.2228T>G, NM_001387629.1:c.1835T>G, NM_001387628.1:c.2750T>G, NM_001387657.1:c.2750T>G, NM_001387627.1:c.2705T>G, NM_001387625.1:c.2696T>G, NM_001387624.1:c.2774T>G, NM_001387623.1:c.2411T>G, NM_001387622.1:c.2768T>G, NM_001387621.1:c.1808T>G, NM_001387656.1:c.2696T>G, NM_001387587.1:c.2750T>G, NM_001387620.1:c.2459T>G, NM_001387619.1:c.2642T>G, NM_001387618.1:c.2411T>G, NM_001387655.1:c.2750T>G, NM_001387617.1:c.1808T>G, NM_001387616.1:c.1808T>G, NM_001387615.1:c.2690T>G, NM_001387614.1:c.2687T>G, NM_001387613.1:c.2420T>G, NM_001387612.1:c.2411T>G, NM_001387611.1:c.2429T>G, NM_001387586.1:c.2750T>G, NM_001387610.1:c.2228T>G, NM_001387609.1:c.2420T>G, NM_001387608.1:c.2411T>G, NM_001387654.1:c.2411T>G, NR_170672.1:n.2828T>G, NM_001387607.1:c.2450T>G, NM_001387606.1:c.2441T>G, NM_001387653.1:c.2642T>G, NM_001387585.1:c.2687T>G, NM_001387605.1:c.2411T>G, NM_001387652.1:c.2411T>G, NM_001387604.1:c.1817T>G, NM_001387603.1:c.2357T>G, NM_001387592.1:c.1808T>G, NM_001387591.1:c.2348T>G, NM_001387584.1:c.2411T>G, NM_001387590.1:c.2303T>G, NR_170671.1:n.2661T>G, XM_024447202.2:c.2924T>G, XM_024447202.1:c.2924T>G, XM_024447203.2:c.2921T>G, XM_024447203.1:c.2921T>G, XM_024447207.2:c.2849T>G, XM_024447207.1:c.2849T>G, XM_024447208.2:c.2843T>G, XM_024447208.1:c.2843T>G, XM_024447209.2:c.2825T>G, XM_024447209.1:c.2825T>G, XM_047422048.1:c.2579T>G, XM_047422019.1:c.3014T>G, XM_047422021.1:c.3014T>G, XM_047422028.1:c.2942T>G, XM_047422031.1:c.2930T>G, XM_047422034.1:c.2912T>G, XM_047422036.1:c.2903T>G, XM_047422037.1:c.2891T>G, XM_047422020.1:c.3014T>G, XM_047422047.1:c.2774T>G, XM_047422016.1:c.3035T>G, XM_047422017.1:c.3026T>G, XM_047422018.1:c.3014T>G, XM_047422022.1:c.3005T>G, XM_047422049.1:c.2882T>G, XM_047422023.1:c.2972T>G, XM_047422024.1:c.2963T>G, XM_047422025.1:c.2951T>G, XM_047422039.1:c.2882T>G, XM_047422053.1:c.2882T>G, XM_047422027.1:c.2942T>G, XM_047422026.1:c.2942T>G, XM_047422029.1:c.2933T>G, XM_047422030.1:c.2930T>G, XM_047422032.1:c.2927T>G, XM_047422044.1:c.2798T>G, XM_047422033.1:c.2912T>G, XM_047422035.1:c.2903T>G, XM_047422038.1:c.2888T>G, XM_047422040.1:c.2870T>G, XM_047422041.1:c.2858T>G, XM_047422043.1:c.2840T>G, XM_047422045.1:c.2795T>G, XM_047422050.1:c.2543T>G, XM_047422046.1:c.2780T>G, XM_047422052.1:c.2534T>G, XM_047422054.1:c.2441T>G, NP_005598.3:p.Leu939Arg, NP_722560.1:p.Leu917Arg, NP_001339626.1:p.Leu981Arg, NP_001339627.1:p.Leu974Arg, NP_001339634.1:p.Leu946Arg, NP_001339641.1:p.Leu958Arg, NP_001339630.1:p.Leu961Arg, NP_001339632.1:p.Leu961Arg, NP_001339676.1:p.Leu446Arg, NP_001339631.1:p.Leu961Arg, NP_001339633.1:p.Leu954Arg, NP_001339636.1:p.Leu933Arg, NP_001339638.1:p.Leu933Arg, NP_001339629.1:p.Leu961Arg, NP_001339628.1:p.Leu961Arg, NP_001339624.1:p.Leu930Arg, NP_001186578.1:p.Leu930Arg, NP_001339643.1:p.Leu927Arg, NP_001339645.1:p.Leu925Arg, NP_001339646.1:p.Leu923Arg, NP_001339637.1:p.Leu933Arg, NP_001339639.1:p.Leu933Arg, NP_001339647.1:p.Leu920Arg, NP_001339654.1:p.Leu899Arg, NP_001339652.1:p.Leu912Arg, NP_001339648.1:p.Leu920Arg, NP_001339653.1:p.Leu933Arg, NP_001339660.1:p.Leu846Arg, NP_001339635.1:p.Leu933Arg, NP_001339640.1:p.Leu932Arg, NP_001339651.1:p.Leu912Arg, NP_001339642.1:p.Leu927Arg, NP_001339655.1:p.Leu897Arg, NP_001339644.1:p.Leu926Arg, NP_001339666.1:p.Leu838Arg, NP_001339649.1:p.Leu920Arg, NP_001339623.1:p.Leu917Arg, NP_001339650.1:p.Leu912Arg, NP_001339668.1:p.Leu814Arg, NP_001339625.1:p.Leu820Arg, NP_001339659.1:p.Leu848Arg, NP_001339664.1:p.Leu827Arg, NP_001339661.1:p.Leu845Arg, NP_001339665.1:p.Leu825Arg, NP_001339669.1:p.Leu813Arg, NP_001339662.1:p.Leu841Arg, NP_001339672.1:p.Leu799Arg, NP_001339656.1:p.Leu912Arg, NP_001339663.1:p.Leu827Arg, NP_001339657.1:p.Leu881Arg, NP_001303271.1:p.Leu820Arg, NP_001339658.1:p.Leu876Arg, NP_001339667.1:p.Leu818Arg, NP_001339670.1:p.Leu807Arg, NP_001339671.1:p.Leu799Arg, NP_001339673.1:p.Leu784Arg, NP_001339674.1:p.Leu778Arg, NP_001339675.1:p.Leu763Arg, NP_001339678.1:p.Leu230Arg, NP_001339679.1:p.Leu227Arg, NP_001339680.1:p.Leu209Arg, NP_001339681.1:p.Leu206Arg, NP_001374579.1:p.Leu961Arg, NP_001374578.1:p.Leu977Arg, NP_001374577.1:p.Leu961Arg, NP_001374576.1:p.Leu917Arg, NP_001374575.1:p.Leu961Arg, NP_001374574.1:p.Leu917Arg, NP_001374591.1:p.Leu964Arg, NP_001374590.1:p.Leu961Arg, NP_001374573.1:p.Leu967Arg, NP_001374572.1:p.Leu961Arg, NP_001374571.1:p.Leu917Arg, NP_001374589.1:p.Leu961Arg, NP_001374570.1:p.Leu930Arg, NP_001374569.1:p.Leu940Arg, NP_001374568.1:p.Leu933Arg, NP_001374588.1:p.Leu920Arg, NP_001374567.1:p.Leu920Arg, NP_001374566.1:p.Leu917Arg, NP_001374587.1:p.Leu917Arg, NP_001374565.1:p.Leu917Arg, NP_001374564.1:p.Leu768Arg, NP_001374563.1:p.Leu926Arg, NP_001374562.1:p.Leu906Arg, NP_001374561.1:p.Leu896Arg, NP_001374560.1:p.Leu925Arg, NP_001374559.1:p.Leu743Arg, NP_001374558.1:p.Leu612Arg, NP_001374557.1:p.Leu917Arg, NP_001374586.1:p.Leu917Arg, NP_001374556.1:p.Leu902Arg, NP_001374554.1:p.Leu899Arg, NP_001374553.1:p.Leu925Arg, NP_001374552.1:p.Leu804Arg, NP_001374551.1:p.Leu923Arg, NP_001374550.1:p.Leu603Arg, NP_001374585.1:p.Leu899Arg, NP_001374516.1:p.Leu917Arg, NP_001374549.1:p.Leu820Arg, NP_001374548.1:p.Leu881Arg, NP_001374547.1:p.Leu804Arg, NP_001374584.1:p.Leu917Arg, NP_001374546.1:p.Leu603Arg, NP_001374545.1:p.Leu603Arg, NP_001374544.1:p.Leu897Arg, NP_001374543.1:p.Leu896Arg, NP_001374542.1:p.Leu807Arg, NP_001374541.1:p.Leu804Arg, NP_001374540.1:p.Leu810Arg, NP_001374515.1:p.Leu917Arg, NP_001374539.1:p.Leu743Arg, NP_001374538.1:p.Leu807Arg, NP_001374537.1:p.Leu804Arg, NP_001374583.1:p.Leu804Arg, NP_001374536.1:p.Leu817Arg, NP_001374535.1:p.Leu814Arg, NP_001374582.1:p.Leu881Arg, NP_001374514.1:p.Leu896Arg, NP_001374534.1:p.Leu804Arg, NP_001374581.1:p.Leu804Arg, NP_001374533.1:p.Leu606Arg, NP_001374532.1:p.Leu786Arg, NP_001374521.1:p.Leu603Arg, NP_001374520.1:p.Leu783Arg, NP_001374513.1:p.Leu804Arg, NP_001374519.1:p.Leu768Arg, XP_024302970.1:p.Leu975Arg, XP_024302971.1:p.Leu974Arg, XP_024302975.1:p.Leu950Arg, XP_024302976.1:p.Leu948Arg, XP_024302977.1:p.Leu942Arg, XP_047278004.1:p.Leu860Arg, XP_047277975.1:p.Leu1005Arg, XP_047277977.1:p.Leu1005Arg, XP_047277984.1:p.Leu981Arg, XP_047277987.1:p.Leu977Arg, XP_047277990.1:p.Leu971Arg, XP_047277992.1:p.Leu968Arg, XP_047277993.1:p.Leu964Arg, XP_047277976.1:p.Leu1005Arg, XP_047278003.1:p.Leu925Arg, XP_047277972.1:p.Leu1012Arg, XP_047277973.1:p.Leu1009Arg, XP_047277974.1:p.Leu1005Arg, XP_047277978.1:p.Leu1002Arg, XP_047278005.1:p.Leu961Arg, XP_047277979.1:p.Leu991Arg, XP_047277980.1:p.Leu988Arg, XP_047277981.1:p.Leu984Arg, XP_047277995.1:p.Leu961Arg, XP_047278009.1:p.Leu961Arg, XP_047277983.1:p.Leu981Arg, XP_047277982.1:p.Leu981Arg, XP_047277985.1:p.Leu978Arg, XP_047277986.1:p.Leu977Arg, XP_047277988.1:p.Leu976Arg, XP_047278000.1:p.Leu933Arg, XP_047277989.1:p.Leu971Arg, XP_047277991.1:p.Leu968Arg, XP_047277994.1:p.Leu963Arg, XP_047277996.1:p.Leu957Arg, XP_047277997.1:p.Leu953Arg, XP_047277999.1:p.Leu947Arg, XP_047278001.1:p.Leu932Arg, XP_047278006.1:p.Leu848Arg, XP_047278002.1:p.Leu927Arg, XP_047278008.1:p.Leu845Arg, XP_047278010.1:p.Leu814Arg

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