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Items: 1 to 20 of 1694

1.

rs1490420025 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    9:713342 (GRCh38)
    9:713342 (GRCh37)
    Canonical SPDI:
    NC_000009.12:713341:T:A
    Gene:
    KANK1 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000111/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.713342T>A, NC_000009.11:g.713342T>A, NG_016331.2:g.248049T>A, NM_153186.6:c.2102T>A, NM_153186.5:c.2102T>A, NM_153186.4:c.2102T>A, NM_015158.5:c.2576T>A, NM_015158.4:c.2576T>A, NM_015158.3:c.2576T>A, NM_001256877.3:c.2576T>A, NM_001256877.2:c.2576T>A, NM_001256877.1:c.2576T>A, NM_001256876.3:c.2576T>A, NM_001256876.2:c.2576T>A, NM_001256876.1:c.2576T>A, NM_001354334.2:c.2576T>A, NM_001354334.1:c.2576T>A, NM_001354333.2:c.2102T>A, NM_001354333.1:c.2102T>A, NM_001354341.2:c.2102T>A, NM_001354341.1:c.2102T>A, NR_148869.2:n.2738T>A, NR_148869.1:n.3114T>A, NM_001354335.2:c.2102T>A, NM_001354335.1:c.2102T>A, NM_001354344.2:c.2102T>A, NM_001354344.1:c.2102T>A, NM_001354332.2:c.2576T>A, NM_001354332.1:c.2576T>A, NM_001354337.2:c.2102T>A, NM_001354337.1:c.2102T>A, NM_001354338.2:c.2102T>A, NM_001354338.1:c.2102T>A, NM_001354340.2:c.2102T>A, NM_001354340.1:c.2102T>A, NM_001354343.2:c.2102T>A, NM_001354343.1:c.2102T>A, NM_001354342.2:c.2102T>A, NM_001354342.1:c.2102T>A, NM_001354331.2:c.2576T>A, NM_001354331.1:c.2576T>A, NM_001354339.2:c.2102T>A, NM_001354339.1:c.2102T>A, NM_001354336.2:c.2102T>A, NM_001354336.1:c.2102T>A, XM_024447463.2:c.2576T>A, XM_024447463.1:c.2576T>A, XM_024447466.2:c.2576T>A, XM_024447466.1:c.2576T>A, XM_024447465.2:c.2576T>A, XM_024447465.1:c.2576T>A, XM_024447467.2:c.2576T>A, XM_024447467.1:c.2576T>A, XM_047423041.1:c.2576T>A, XM_047423060.1:c.2576T>A, XM_047423058.1:c.2576T>A, XM_047423049.1:c.2576T>A, XM_047423067.1:c.2576T>A, XM_047423048.1:c.2576T>A, XM_047423073.1:c.2576T>A, XM_047423053.1:c.2576T>A, XM_047423040.1:c.2576T>A, XM_047423059.1:c.2576T>A, XM_047423050.1:c.2576T>A, XM_047423051.1:c.2576T>A, XM_047423066.1:c.2576T>A, XM_047423052.1:c.2576T>A, XM_047423056.1:c.2576T>A, XM_047423043.1:c.2576T>A, XM_047423047.1:c.2576T>A, XM_047423042.1:c.2576T>A, XM_047423055.1:c.2576T>A, XM_047423045.1:c.2576T>A, XM_047423044.1:c.2576T>A, XM_047423046.1:c.2576T>A, XM_047423054.1:c.2576T>A, XM_047423057.1:c.2576T>A, XM_047423064.1:c.2576T>A, XM_047423065.1:c.2576T>A, XM_047423061.1:c.2576T>A, XM_047423062.1:c.2576T>A, XM_047423063.1:c.2576T>A, XM_047423070.1:c.2576T>A, XM_047423068.1:c.2576T>A, XM_047423072.1:c.2576T>A, XM_047423074.1:c.2102T>A, XM_047423069.1:c.2576T>A, XM_047423075.1:c.2102T>A, XM_047423078.1:c.2102T>A, XM_047423071.1:c.2576T>A, XM_047423076.1:c.2102T>A, XM_047423077.1:c.2102T>A, XM_047423079.1:c.2102T>A, NP_694856.1:p.Met701Lys, NP_055973.2:p.Met859Lys, NP_001243806.1:p.Met859Lys, NP_001243805.1:p.Met859Lys, NP_001341263.1:p.Met859Lys, NP_001341262.1:p.Met701Lys, NP_001341270.1:p.Met701Lys, NP_001341264.1:p.Met701Lys, NP_001341273.1:p.Met701Lys, NP_001341261.1:p.Met859Lys, NP_001341266.1:p.Met701Lys, NP_001341267.1:p.Met701Lys, NP_001341269.1:p.Met701Lys, NP_001341272.1:p.Met701Lys, NP_001341271.1:p.Met701Lys, NP_001341260.1:p.Met859Lys, NP_001341268.1:p.Met701Lys, NP_001341265.1:p.Met701Lys, XP_024303231.1:p.Met859Lys, XP_024303234.1:p.Met859Lys, XP_024303233.1:p.Met859Lys, XP_024303235.1:p.Met859Lys, XP_047278997.1:p.Met859Lys, XP_047279016.1:p.Met859Lys, XP_047279014.1:p.Met859Lys, XP_047279005.1:p.Met859Lys, XP_047279023.1:p.Met859Lys, XP_047279004.1:p.Met859Lys, XP_047279029.1:p.Met859Lys, XP_047279009.1:p.Met859Lys, XP_047278996.1:p.Met859Lys, XP_047279015.1:p.Met859Lys, XP_047279006.1:p.Met859Lys, XP_047279007.1:p.Met859Lys, XP_047279022.1:p.Met859Lys, XP_047279008.1:p.Met859Lys, XP_047279012.1:p.Met859Lys, XP_047278999.1:p.Met859Lys, XP_047279003.1:p.Met859Lys, XP_047278998.1:p.Met859Lys, XP_047279011.1:p.Met859Lys, XP_047279001.1:p.Met859Lys, XP_047279000.1:p.Met859Lys, XP_047279002.1:p.Met859Lys, XP_047279010.1:p.Met859Lys, XP_047279013.1:p.Met859Lys, XP_047279020.1:p.Met859Lys, XP_047279021.1:p.Met859Lys, XP_047279017.1:p.Met859Lys, XP_047279018.1:p.Met859Lys, XP_047279019.1:p.Met859Lys, XP_047279026.1:p.Met859Lys, XP_047279024.1:p.Met859Lys, XP_047279028.1:p.Met859Lys, XP_047279030.1:p.Met701Lys, XP_047279025.1:p.Met859Lys, XP_047279031.1:p.Met701Lys, XP_047279034.1:p.Met701Lys, XP_047279027.1:p.Met859Lys, XP_047279032.1:p.Met701Lys, XP_047279033.1:p.Met701Lys, XP_047279035.1:p.Met701Lys

    2.

    rs1489055039 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      9:712407 (GRCh38)
      9:712407 (GRCh37)
      Canonical SPDI:
      NC_000009.12:712406:A:G
      Gene:
      KANK1 (Varview), LOC107987042 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.712407A>G, NC_000009.11:g.712407A>G, NG_016331.2:g.247114A>G, NM_153186.6:c.1167A>G, NM_153186.5:c.1167A>G, NM_153186.4:c.1167A>G, NM_015158.5:c.1641A>G, NM_015158.4:c.1641A>G, NM_015158.3:c.1641A>G, NM_001256877.3:c.1641A>G, NM_001256877.2:c.1641A>G, NM_001256877.1:c.1641A>G, NM_001256876.3:c.1641A>G, NM_001256876.2:c.1641A>G, NM_001256876.1:c.1641A>G, NM_001354334.2:c.1641A>G, NM_001354334.1:c.1641A>G, NM_001354333.2:c.1167A>G, NM_001354333.1:c.1167A>G, NM_001354341.2:c.1167A>G, NM_001354341.1:c.1167A>G, NR_148869.2:n.1803A>G, NR_148869.1:n.2179A>G, NM_001354335.2:c.1167A>G, NM_001354335.1:c.1167A>G, NM_001354344.2:c.1167A>G, NM_001354344.1:c.1167A>G, NM_001354332.2:c.1641A>G, NM_001354332.1:c.1641A>G, NM_001354337.2:c.1167A>G, NM_001354337.1:c.1167A>G, NM_001354338.2:c.1167A>G, NM_001354338.1:c.1167A>G, NM_001354340.2:c.1167A>G, NM_001354340.1:c.1167A>G, NM_001354343.2:c.1167A>G, NM_001354343.1:c.1167A>G, NM_001354342.2:c.1167A>G, NM_001354342.1:c.1167A>G, NM_001354331.2:c.1641A>G, NM_001354331.1:c.1641A>G, NM_001354339.2:c.1167A>G, NM_001354339.1:c.1167A>G, NM_001354336.2:c.1167A>G, NM_001354336.1:c.1167A>G, XM_024447463.2:c.1641A>G, XM_024447463.1:c.1641A>G, XM_024447466.2:c.1641A>G, XM_024447466.1:c.1641A>G, XM_024447465.2:c.1641A>G, XM_024447465.1:c.1641A>G, XM_024447467.2:c.1641A>G, XM_024447467.1:c.1641A>G, XM_047423041.1:c.1641A>G, XM_047423060.1:c.1641A>G, XM_047423058.1:c.1641A>G, XM_047423049.1:c.1641A>G, XM_047423067.1:c.1641A>G, XM_047423048.1:c.1641A>G, XM_047423073.1:c.1641A>G, XM_047423053.1:c.1641A>G, XM_047423040.1:c.1641A>G, XM_047423059.1:c.1641A>G, XM_047423050.1:c.1641A>G, XM_047423051.1:c.1641A>G, XM_047423066.1:c.1641A>G, XM_047423052.1:c.1641A>G, XM_047423056.1:c.1641A>G, XM_047423043.1:c.1641A>G, XM_047423047.1:c.1641A>G, XM_047423042.1:c.1641A>G, XM_047423055.1:c.1641A>G, XM_047423045.1:c.1641A>G, XM_047423044.1:c.1641A>G, XM_047423046.1:c.1641A>G, XM_047423054.1:c.1641A>G, XM_047423057.1:c.1641A>G, XM_047423064.1:c.1641A>G, XM_047423065.1:c.1641A>G, XM_047423061.1:c.1641A>G, XM_047423062.1:c.1641A>G, XM_047423063.1:c.1641A>G, XM_047423070.1:c.1641A>G, XM_047423068.1:c.1641A>G, XM_047423072.1:c.1641A>G, XM_047423074.1:c.1167A>G, XM_047423069.1:c.1641A>G, XM_047423075.1:c.1167A>G, XM_047423078.1:c.1167A>G, XM_047423071.1:c.1641A>G, XM_047423076.1:c.1167A>G, XM_047423077.1:c.1167A>G, XM_047423079.1:c.1167A>G

      3.

      rs1487932348 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CTGT>- [Show Flanks]
        Chromosome:
        9:711714 (GRCh38)
        9:711714 (GRCh37)
        Canonical SPDI:
        NC_000009.12:711710:TGTCTGT:TGT
        Gene:
        KANK1 (Varview), LOC107987042 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.711714_711717del, NC_000009.11:g.711714_711717del, NG_016331.2:g.246421_246424del, NM_153186.6:c.474_477del, NM_153186.5:c.474_477del, NM_153186.4:c.474_477del, NM_015158.5:c.948_951del, NM_015158.4:c.948_951del, NM_015158.3:c.948_951del, NM_001256877.3:c.948_951del, NM_001256877.2:c.948_951del, NM_001256877.1:c.948_951del, NM_001256876.3:c.948_951del, NM_001256876.2:c.948_951del, NM_001256876.1:c.948_951del, NM_001354334.2:c.948_951del, NM_001354334.1:c.948_951del, NM_001354333.2:c.474_477del, NM_001354333.1:c.474_477del, NM_001354341.2:c.474_477del, NM_001354341.1:c.474_477del, NR_148869.2:n.1110_1113del, NR_148869.1:n.1486_1489del, NM_001354335.2:c.474_477del, NM_001354335.1:c.474_477del, NM_001354344.2:c.474_477del, NM_001354344.1:c.474_477del, NM_001354332.2:c.948_951del, NM_001354332.1:c.948_951del, NM_001354337.2:c.474_477del, NM_001354337.1:c.474_477del, NM_001354338.2:c.474_477del, NM_001354338.1:c.474_477del, NM_001354340.2:c.474_477del, NM_001354340.1:c.474_477del, NM_001354343.2:c.474_477del, NM_001354343.1:c.474_477del, NM_001354342.2:c.474_477del, NM_001354342.1:c.474_477del, NM_001354331.2:c.948_951del, NM_001354331.1:c.948_951del, NM_001354339.2:c.474_477del, NM_001354339.1:c.474_477del, NM_001354336.2:c.474_477del, NM_001354336.1:c.474_477del, XM_024447463.2:c.948_951del, XM_024447463.1:c.948_951del, XM_024447466.2:c.948_951del, XM_024447466.1:c.948_951del, XM_024447465.2:c.948_951del, XM_024447465.1:c.948_951del, XM_024447467.2:c.948_951del, XM_024447467.1:c.948_951del, XM_047423041.1:c.948_951del, XM_047423060.1:c.948_951del, XM_047423058.1:c.948_951del, XM_047423049.1:c.948_951del, XM_047423067.1:c.948_951del, XM_047423048.1:c.948_951del, XM_047423073.1:c.948_951del, XM_047423053.1:c.948_951del, XM_047423040.1:c.948_951del, XM_047423059.1:c.948_951del, XM_047423050.1:c.948_951del, XM_047423051.1:c.948_951del, XM_047423066.1:c.948_951del, XM_047423052.1:c.948_951del, XM_047423056.1:c.948_951del, XM_047423043.1:c.948_951del, XM_047423047.1:c.948_951del, XM_047423042.1:c.948_951del, XM_047423055.1:c.948_951del, XM_047423045.1:c.948_951del, XM_047423044.1:c.948_951del, XM_047423046.1:c.948_951del, XM_047423054.1:c.948_951del, XM_047423057.1:c.948_951del, XM_047423064.1:c.948_951del, XM_047423065.1:c.948_951del, XM_047423061.1:c.948_951del, XM_047423062.1:c.948_951del, XM_047423063.1:c.948_951del, XM_047423070.1:c.948_951del, XM_047423068.1:c.948_951del, XM_047423072.1:c.948_951del, XM_047423074.1:c.474_477del, XM_047423069.1:c.948_951del, XM_047423075.1:c.474_477del, XM_047423078.1:c.474_477del, XM_047423071.1:c.948_951del, XM_047423076.1:c.474_477del, XM_047423077.1:c.474_477del, XM_047423079.1:c.474_477del, NP_694856.1:p.Cys159fs, NP_055973.2:p.Cys317fs, NP_001243806.1:p.Cys317fs, NP_001243805.1:p.Cys317fs, NP_001341263.1:p.Cys317fs, NP_001341262.1:p.Cys159fs, NP_001341270.1:p.Cys159fs, NP_001341264.1:p.Cys159fs, NP_001341273.1:p.Cys159fs, NP_001341261.1:p.Cys317fs, NP_001341266.1:p.Cys159fs, NP_001341267.1:p.Cys159fs, NP_001341269.1:p.Cys159fs, NP_001341272.1:p.Cys159fs, NP_001341271.1:p.Cys159fs, NP_001341260.1:p.Cys317fs, NP_001341268.1:p.Cys159fs, NP_001341265.1:p.Cys159fs, XP_024303231.1:p.Cys317fs, XP_024303234.1:p.Cys317fs, XP_024303233.1:p.Cys317fs, XP_024303235.1:p.Cys317fs, XP_047278997.1:p.Cys317fs, XP_047279016.1:p.Cys317fs, XP_047279014.1:p.Cys317fs, XP_047279005.1:p.Cys317fs, XP_047279023.1:p.Cys317fs, XP_047279004.1:p.Cys317fs, XP_047279029.1:p.Cys317fs, XP_047279009.1:p.Cys317fs, XP_047278996.1:p.Cys317fs, XP_047279015.1:p.Cys317fs, XP_047279006.1:p.Cys317fs, XP_047279007.1:p.Cys317fs, XP_047279022.1:p.Cys317fs, XP_047279008.1:p.Cys317fs, XP_047279012.1:p.Cys317fs, XP_047278999.1:p.Cys317fs, XP_047279003.1:p.Cys317fs, XP_047278998.1:p.Cys317fs, XP_047279011.1:p.Cys317fs, XP_047279001.1:p.Cys317fs, XP_047279000.1:p.Cys317fs, XP_047279002.1:p.Cys317fs, XP_047279010.1:p.Cys317fs, XP_047279013.1:p.Cys317fs, XP_047279020.1:p.Cys317fs, XP_047279021.1:p.Cys317fs, XP_047279017.1:p.Cys317fs, XP_047279018.1:p.Cys317fs, XP_047279019.1:p.Cys317fs, XP_047279026.1:p.Cys317fs, XP_047279024.1:p.Cys317fs, XP_047279028.1:p.Cys317fs, XP_047279030.1:p.Cys159fs, XP_047279025.1:p.Cys317fs, XP_047279031.1:p.Cys159fs, XP_047279034.1:p.Cys159fs, XP_047279027.1:p.Cys317fs, XP_047279032.1:p.Cys159fs, XP_047279033.1:p.Cys159fs, XP_047279035.1:p.Cys159fs

        4.

        rs1487097178 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:711380 (GRCh38)
          9:711380 (GRCh37)
          Canonical SPDI:
          NC_000009.12:711379:A:G
          Gene:
          KANK1 (Varview), LOC107987042 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000009.12:g.711380A>G, NC_000009.11:g.711380A>G, NG_016331.2:g.246087A>G, NM_153186.6:c.140A>G, NM_153186.5:c.140A>G, NM_153186.4:c.140A>G, NM_015158.5:c.614A>G, NM_015158.4:c.614A>G, NM_015158.3:c.614A>G, NM_001256877.3:c.614A>G, NM_001256877.2:c.614A>G, NM_001256877.1:c.614A>G, NM_001256876.3:c.614A>G, NM_001256876.2:c.614A>G, NM_001256876.1:c.614A>G, NM_001354334.2:c.614A>G, NM_001354334.1:c.614A>G, NM_001354333.2:c.140A>G, NM_001354333.1:c.140A>G, NM_001354341.2:c.140A>G, NM_001354341.1:c.140A>G, NR_148869.2:n.776A>G, NR_148869.1:n.1152A>G, NM_001354335.2:c.140A>G, NM_001354335.1:c.140A>G, NM_001354344.2:c.140A>G, NM_001354344.1:c.140A>G, NM_001354332.2:c.614A>G, NM_001354332.1:c.614A>G, NM_001354337.2:c.140A>G, NM_001354337.1:c.140A>G, NM_001354338.2:c.140A>G, NM_001354338.1:c.140A>G, NM_001354340.2:c.140A>G, NM_001354340.1:c.140A>G, NM_001354343.2:c.140A>G, NM_001354343.1:c.140A>G, NM_001354342.2:c.140A>G, NM_001354342.1:c.140A>G, NM_001354331.2:c.614A>G, NM_001354331.1:c.614A>G, NM_001354339.2:c.140A>G, NM_001354339.1:c.140A>G, NM_001354336.2:c.140A>G, NM_001354336.1:c.140A>G, XM_024447463.2:c.614A>G, XM_024447463.1:c.614A>G, XM_024447466.2:c.614A>G, XM_024447466.1:c.614A>G, XM_024447465.2:c.614A>G, XM_024447465.1:c.614A>G, XM_024447467.2:c.614A>G, XM_024447467.1:c.614A>G, XM_047423041.1:c.614A>G, XM_047423060.1:c.614A>G, XM_047423058.1:c.614A>G, XM_047423049.1:c.614A>G, XM_047423067.1:c.614A>G, XM_047423048.1:c.614A>G, XM_047423073.1:c.614A>G, XM_047423053.1:c.614A>G, XM_047423040.1:c.614A>G, XM_047423059.1:c.614A>G, XM_047423050.1:c.614A>G, XM_047423051.1:c.614A>G, XM_047423066.1:c.614A>G, XM_047423052.1:c.614A>G, XM_047423056.1:c.614A>G, XM_047423043.1:c.614A>G, XM_047423047.1:c.614A>G, XM_047423042.1:c.614A>G, XM_047423055.1:c.614A>G, XM_047423045.1:c.614A>G, XM_047423044.1:c.614A>G, XM_047423046.1:c.614A>G, XM_047423054.1:c.614A>G, XM_047423057.1:c.614A>G, XM_047423064.1:c.614A>G, XM_047423065.1:c.614A>G, XM_047423061.1:c.614A>G, XM_047423062.1:c.614A>G, XM_047423063.1:c.614A>G, XM_047423070.1:c.614A>G, XM_047423068.1:c.614A>G, XM_047423072.1:c.614A>G, XM_047423074.1:c.140A>G, XM_047423069.1:c.614A>G, XM_047423075.1:c.140A>G, XM_047423078.1:c.140A>G, XM_047423071.1:c.614A>G, XM_047423076.1:c.140A>G, XM_047423077.1:c.140A>G, XM_047423079.1:c.140A>G, NP_694856.1:p.His47Arg, NP_055973.2:p.His205Arg, NP_001243806.1:p.His205Arg, NP_001243805.1:p.His205Arg, NP_001341263.1:p.His205Arg, NP_001341262.1:p.His47Arg, NP_001341270.1:p.His47Arg, NP_001341264.1:p.His47Arg, NP_001341273.1:p.His47Arg, NP_001341261.1:p.His205Arg, NP_001341266.1:p.His47Arg, NP_001341267.1:p.His47Arg, NP_001341269.1:p.His47Arg, NP_001341272.1:p.His47Arg, NP_001341271.1:p.His47Arg, NP_001341260.1:p.His205Arg, NP_001341268.1:p.His47Arg, NP_001341265.1:p.His47Arg, XP_024303231.1:p.His205Arg, XP_024303234.1:p.His205Arg, XP_024303233.1:p.His205Arg, XP_024303235.1:p.His205Arg, XP_047278997.1:p.His205Arg, XP_047279016.1:p.His205Arg, XP_047279014.1:p.His205Arg, XP_047279005.1:p.His205Arg, XP_047279023.1:p.His205Arg, XP_047279004.1:p.His205Arg, XP_047279029.1:p.His205Arg, XP_047279009.1:p.His205Arg, XP_047278996.1:p.His205Arg, XP_047279015.1:p.His205Arg, XP_047279006.1:p.His205Arg, XP_047279007.1:p.His205Arg, XP_047279022.1:p.His205Arg, XP_047279008.1:p.His205Arg, XP_047279012.1:p.His205Arg, XP_047278999.1:p.His205Arg, XP_047279003.1:p.His205Arg, XP_047278998.1:p.His205Arg, XP_047279011.1:p.His205Arg, XP_047279001.1:p.His205Arg, XP_047279000.1:p.His205Arg, XP_047279002.1:p.His205Arg, XP_047279010.1:p.His205Arg, XP_047279013.1:p.His205Arg, XP_047279020.1:p.His205Arg, XP_047279021.1:p.His205Arg, XP_047279017.1:p.His205Arg, XP_047279018.1:p.His205Arg, XP_047279019.1:p.His205Arg, XP_047279026.1:p.His205Arg, XP_047279024.1:p.His205Arg, XP_047279028.1:p.His205Arg, XP_047279030.1:p.His47Arg, XP_047279025.1:p.His205Arg, XP_047279031.1:p.His47Arg, XP_047279034.1:p.His47Arg, XP_047279027.1:p.His205Arg, XP_047279032.1:p.His47Arg, XP_047279033.1:p.His47Arg, XP_047279035.1:p.His47Arg

          5.

          rs1486693319 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            9:713410 (GRCh38)
            9:713410 (GRCh37)
            Canonical SPDI:
            NC_000009.12:713409:A:C
            Gene:
            KANK1 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.713410A>C, NC_000009.11:g.713410A>C, NG_016331.2:g.248117A>C, NM_153186.6:c.2170A>C, NM_153186.5:c.2170A>C, NM_153186.4:c.2170A>C, NM_015158.5:c.2644A>C, NM_015158.4:c.2644A>C, NM_015158.3:c.2644A>C, NM_001256877.3:c.2644A>C, NM_001256877.2:c.2644A>C, NM_001256877.1:c.2644A>C, NM_001256876.3:c.2644A>C, NM_001256876.2:c.2644A>C, NM_001256876.1:c.2644A>C, NM_001354334.2:c.2644A>C, NM_001354334.1:c.2644A>C, NM_001354333.2:c.2170A>C, NM_001354333.1:c.2170A>C, NM_001354341.2:c.2170A>C, NM_001354341.1:c.2170A>C, NR_148869.2:n.2806A>C, NR_148869.1:n.3182A>C, NM_001354335.2:c.2170A>C, NM_001354335.1:c.2170A>C, NM_001354344.2:c.2170A>C, NM_001354344.1:c.2170A>C, NM_001354332.2:c.2644A>C, NM_001354332.1:c.2644A>C, NM_001354337.2:c.2170A>C, NM_001354337.1:c.2170A>C, NM_001354338.2:c.2170A>C, NM_001354338.1:c.2170A>C, NM_001354340.2:c.2170A>C, NM_001354340.1:c.2170A>C, NM_001354343.2:c.2170A>C, NM_001354343.1:c.2170A>C, NM_001354342.2:c.2170A>C, NM_001354342.1:c.2170A>C, NM_001354331.2:c.2644A>C, NM_001354331.1:c.2644A>C, NM_001354339.2:c.2170A>C, NM_001354339.1:c.2170A>C, NM_001354336.2:c.2170A>C, NM_001354336.1:c.2170A>C, XM_024447463.2:c.2644A>C, XM_024447463.1:c.2644A>C, XM_024447466.2:c.2644A>C, XM_024447466.1:c.2644A>C, XM_024447465.2:c.2644A>C, XM_024447465.1:c.2644A>C, XM_024447467.2:c.2644A>C, XM_024447467.1:c.2644A>C, XM_047423041.1:c.2644A>C, XM_047423060.1:c.2644A>C, XM_047423058.1:c.2644A>C, XM_047423049.1:c.2644A>C, XM_047423067.1:c.2644A>C, XM_047423048.1:c.2644A>C, XM_047423073.1:c.2644A>C, XM_047423053.1:c.2644A>C, XM_047423040.1:c.2644A>C, XM_047423059.1:c.2644A>C, XM_047423050.1:c.2644A>C, XM_047423051.1:c.2644A>C, XM_047423066.1:c.2644A>C, XM_047423052.1:c.2644A>C, XM_047423056.1:c.2644A>C, XM_047423043.1:c.2644A>C, XM_047423047.1:c.2644A>C, XM_047423042.1:c.2644A>C, XM_047423055.1:c.2644A>C, XM_047423045.1:c.2644A>C, XM_047423044.1:c.2644A>C, XM_047423046.1:c.2644A>C, XM_047423054.1:c.2644A>C, XM_047423057.1:c.2644A>C, XM_047423064.1:c.2644A>C, XM_047423065.1:c.2644A>C, XM_047423061.1:c.2644A>C, XM_047423062.1:c.2644A>C, XM_047423063.1:c.2644A>C, XM_047423070.1:c.2644A>C, XM_047423068.1:c.2644A>C, XM_047423072.1:c.2644A>C, XM_047423074.1:c.2170A>C, XM_047423069.1:c.2644A>C, XM_047423075.1:c.2170A>C, XM_047423078.1:c.2170A>C, XM_047423071.1:c.2644A>C, XM_047423076.1:c.2170A>C, XM_047423077.1:c.2170A>C, XM_047423079.1:c.2170A>C, NP_694856.1:p.Thr724Pro, NP_055973.2:p.Thr882Pro, NP_001243806.1:p.Thr882Pro, NP_001243805.1:p.Thr882Pro, NP_001341263.1:p.Thr882Pro, NP_001341262.1:p.Thr724Pro, NP_001341270.1:p.Thr724Pro, NP_001341264.1:p.Thr724Pro, NP_001341273.1:p.Thr724Pro, NP_001341261.1:p.Thr882Pro, NP_001341266.1:p.Thr724Pro, NP_001341267.1:p.Thr724Pro, NP_001341269.1:p.Thr724Pro, NP_001341272.1:p.Thr724Pro, NP_001341271.1:p.Thr724Pro, NP_001341260.1:p.Thr882Pro, NP_001341268.1:p.Thr724Pro, NP_001341265.1:p.Thr724Pro, XP_024303231.1:p.Thr882Pro, XP_024303234.1:p.Thr882Pro, XP_024303233.1:p.Thr882Pro, XP_024303235.1:p.Thr882Pro, XP_047278997.1:p.Thr882Pro, XP_047279016.1:p.Thr882Pro, XP_047279014.1:p.Thr882Pro, XP_047279005.1:p.Thr882Pro, XP_047279023.1:p.Thr882Pro, XP_047279004.1:p.Thr882Pro, XP_047279029.1:p.Thr882Pro, XP_047279009.1:p.Thr882Pro, XP_047278996.1:p.Thr882Pro, XP_047279015.1:p.Thr882Pro, XP_047279006.1:p.Thr882Pro, XP_047279007.1:p.Thr882Pro, XP_047279022.1:p.Thr882Pro, XP_047279008.1:p.Thr882Pro, XP_047279012.1:p.Thr882Pro, XP_047278999.1:p.Thr882Pro, XP_047279003.1:p.Thr882Pro, XP_047278998.1:p.Thr882Pro, XP_047279011.1:p.Thr882Pro, XP_047279001.1:p.Thr882Pro, XP_047279000.1:p.Thr882Pro, XP_047279002.1:p.Thr882Pro, XP_047279010.1:p.Thr882Pro, XP_047279013.1:p.Thr882Pro, XP_047279020.1:p.Thr882Pro, XP_047279021.1:p.Thr882Pro, XP_047279017.1:p.Thr882Pro, XP_047279018.1:p.Thr882Pro, XP_047279019.1:p.Thr882Pro, XP_047279026.1:p.Thr882Pro, XP_047279024.1:p.Thr882Pro, XP_047279028.1:p.Thr882Pro, XP_047279030.1:p.Thr724Pro, XP_047279025.1:p.Thr882Pro, XP_047279031.1:p.Thr724Pro, XP_047279034.1:p.Thr724Pro, XP_047279027.1:p.Thr882Pro, XP_047279032.1:p.Thr724Pro, XP_047279033.1:p.Thr724Pro, XP_047279035.1:p.Thr724Pro

            6.

            rs1486212604 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:738473 (GRCh38)
              9:738473 (GRCh37)
              Canonical SPDI:
              NC_000009.12:738472:C:T
              Gene:
              KANK1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000009.12:g.738473C>T, NC_000009.11:g.738473C>T, NG_016331.2:g.273180C>T, NM_153186.6:c.3048C>T, NM_153186.5:c.3048C>T, NM_153186.4:c.3048C>T, NM_015158.5:c.3522C>T, NM_015158.4:c.3522C>T, NM_015158.3:c.3522C>T, NM_001256877.3:c.3522C>T, NM_001256877.2:c.3522C>T, NM_001256877.1:c.3522C>T, NM_001256876.3:c.3522C>T, NM_001256876.2:c.3522C>T, NM_001256876.1:c.3522C>T, NM_001354334.2:c.3522C>T, NM_001354334.1:c.3522C>T, NM_001354333.2:c.3048C>T, NM_001354333.1:c.3048C>T, NM_001354341.2:c.3048C>T, NM_001354341.1:c.3048C>T, NR_148869.2:n.3650C>T, NR_148869.1:n.4026C>T, NM_001354335.2:c.3048C>T, NM_001354335.1:c.3048C>T, NM_001354344.2:c.2994C>T, NM_001354344.1:c.2994C>T, NM_001354332.2:c.3468C>T, NM_001354332.1:c.3468C>T, NM_001354337.2:c.3048C>T, NM_001354337.1:c.3048C>T, NM_001354338.2:c.2994C>T, NM_001354338.1:c.2994C>T, NM_001354340.2:c.2994C>T, NM_001354340.1:c.2994C>T, NM_001354343.2:c.2808C>T, NM_001354343.1:c.2808C>T, NM_001354342.2:c.2808C>T, NM_001354342.1:c.2808C>T, NM_001354331.2:c.3282C>T, NM_001354331.1:c.3282C>T, NM_001354339.2:c.2808C>T, NM_001354339.1:c.2808C>T, NM_001354336.2:c.2754C>T, NM_001354336.1:c.2754C>T, XM_024447463.2:c.3522C>T, XM_024447463.1:c.3522C>T, XM_024447466.2:c.3522C>T, XM_024447466.1:c.3522C>T, XM_024447465.2:c.3522C>T, XM_024447465.1:c.3522C>T, XM_024447467.2:c.3522C>T, XM_024447467.1:c.3522C>T, XM_047423041.1:c.3522C>T, XM_047423060.1:c.3468C>T, XM_047423058.1:c.3468C>T, XM_047423049.1:c.3522C>T, XM_047423067.1:c.3282C>T, XM_047423048.1:c.3522C>T, XM_047423073.1:c.3228C>T, XM_047423053.1:c.3522C>T, XM_047423040.1:c.3522C>T, XM_047423059.1:c.3468C>T, XM_047423050.1:c.3522C>T, XM_047423051.1:c.3522C>T, XM_047423066.1:c.3282C>T, XM_047423052.1:c.3522C>T, XM_047423056.1:c.3522C>T, XM_047423043.1:c.3522C>T, XM_047423047.1:c.3522C>T, XM_047423042.1:c.3522C>T, XM_047423055.1:c.3522C>T, XM_047423045.1:c.3522C>T, XM_047423044.1:c.3522C>T, XM_047423046.1:c.3522C>T, XM_047423054.1:c.3522C>T, XM_047423057.1:c.3522C>T, XM_047423064.1:c.3468C>T, XM_047423065.1:c.3468C>T, XM_047423061.1:c.3468C>T, XM_047423062.1:c.3468C>T, XM_047423063.1:c.3468C>T, XM_047423070.1:c.3282C>T, XM_047423068.1:c.3282C>T, XM_047423072.1:c.3228C>T, XM_047423074.1:c.3048C>T, XM_047423069.1:c.3282C>T, XM_047423075.1:c.2994C>T, XM_047423078.1:c.2754C>T, XM_047423071.1:c.3228C>T, XM_047423076.1:c.2808C>T, XM_047423077.1:c.2754C>T

              7.

              rs1486182911 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                9:734794 (GRCh38)
                9:734794 (GRCh37)
                Canonical SPDI:
                NC_000009.12:734793:A:C,NC_000009.12:734793:A:G
                Gene:
                KANK1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000031/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.734794A>C, NC_000009.12:g.734794A>G, NC_000009.11:g.734794A>C, NC_000009.11:g.734794A>G, NG_016331.2:g.269501A>C, NG_016331.2:g.269501A>G, NM_153186.6:c.2818A>C, NM_153186.6:c.2818A>G, NM_153186.5:c.2818A>C, NM_153186.5:c.2818A>G, NM_153186.4:c.2818A>C, NM_153186.4:c.2818A>G, NM_015158.5:c.3292A>C, NM_015158.5:c.3292A>G, NM_015158.4:c.3292A>C, NM_015158.4:c.3292A>G, NM_015158.3:c.3292A>C, NM_015158.3:c.3292A>G, NM_001256877.3:c.3292A>C, NM_001256877.3:c.3292A>G, NM_001256877.2:c.3292A>C, NM_001256877.2:c.3292A>G, NM_001256877.1:c.3292A>C, NM_001256877.1:c.3292A>G, NM_001256876.3:c.3292A>C, NM_001256876.3:c.3292A>G, NM_001256876.2:c.3292A>C, NM_001256876.2:c.3292A>G, NM_001256876.1:c.3292A>C, NM_001256876.1:c.3292A>G, NM_001354334.2:c.3292A>C, NM_001354334.2:c.3292A>G, NM_001354334.1:c.3292A>C, NM_001354334.1:c.3292A>G, NM_001354333.2:c.2818A>C, NM_001354333.2:c.2818A>G, NM_001354333.1:c.2818A>C, NM_001354333.1:c.2818A>G, NM_001354341.2:c.2818A>C, NM_001354341.2:c.2818A>G, NM_001354341.1:c.2818A>C, NM_001354341.1:c.2818A>G, NR_148869.2:n.3214A>C, NR_148869.2:n.3214A>G, NR_148869.1:n.3590A>C, NR_148869.1:n.3590A>G, NM_001354335.2:c.2818A>C, NM_001354335.2:c.2818A>G, NM_001354335.1:c.2818A>C, NM_001354335.1:c.2818A>G, NM_001354344.2:c.2764A>C, NM_001354344.2:c.2764A>G, NM_001354344.1:c.2764A>C, NM_001354344.1:c.2764A>G, NM_001354332.2:c.3238A>C, NM_001354332.2:c.3238A>G, NM_001354332.1:c.3238A>C, NM_001354332.1:c.3238A>G, NM_001354337.2:c.2818A>C, NM_001354337.2:c.2818A>G, NM_001354337.1:c.2818A>C, NM_001354337.1:c.2818A>G, NM_001354338.2:c.2764A>C, NM_001354338.2:c.2764A>G, NM_001354338.1:c.2764A>C, NM_001354338.1:c.2764A>G, NM_001354340.2:c.2764A>C, NM_001354340.2:c.2764A>G, NM_001354340.1:c.2764A>C, NM_001354340.1:c.2764A>G, NM_001354343.2:c.2578A>C, NM_001354343.2:c.2578A>G, NM_001354343.1:c.2578A>C, NM_001354343.1:c.2578A>G, NM_001354342.2:c.2578A>C, NM_001354342.2:c.2578A>G, NM_001354342.1:c.2578A>C, NM_001354342.1:c.2578A>G, NM_001354331.2:c.3052A>C, NM_001354331.2:c.3052A>G, NM_001354331.1:c.3052A>C, NM_001354331.1:c.3052A>G, NM_001354339.2:c.2578A>C, NM_001354339.2:c.2578A>G, NM_001354339.1:c.2578A>C, NM_001354339.1:c.2578A>G, NM_001354336.2:c.2524A>C, NM_001354336.2:c.2524A>G, NM_001354336.1:c.2524A>C, NM_001354336.1:c.2524A>G, XM_024447463.2:c.3292A>C, XM_024447463.2:c.3292A>G, XM_024447463.1:c.3292A>C, XM_024447463.1:c.3292A>G, XM_024447466.2:c.3292A>C, XM_024447466.2:c.3292A>G, XM_024447466.1:c.3292A>C, XM_024447466.1:c.3292A>G, XM_024447465.2:c.3292A>C, XM_024447465.2:c.3292A>G, XM_024447465.1:c.3292A>C, XM_024447465.1:c.3292A>G, XM_024447467.2:c.3292A>C, XM_024447467.2:c.3292A>G, XM_024447467.1:c.3292A>C, XM_024447467.1:c.3292A>G, XM_047423041.1:c.3292A>C, XM_047423041.1:c.3292A>G, XM_047423060.1:c.3238A>C, XM_047423060.1:c.3238A>G, XM_047423058.1:c.3238A>C, XM_047423058.1:c.3238A>G, XM_047423049.1:c.3292A>C, XM_047423049.1:c.3292A>G, XM_047423067.1:c.3052A>C, XM_047423067.1:c.3052A>G, XM_047423048.1:c.3292A>C, XM_047423048.1:c.3292A>G, XM_047423073.1:c.2998A>C, XM_047423073.1:c.2998A>G, XM_047423053.1:c.3292A>C, XM_047423053.1:c.3292A>G, XM_047423040.1:c.3292A>C, XM_047423040.1:c.3292A>G, XM_047423059.1:c.3238A>C, XM_047423059.1:c.3238A>G, XM_047423050.1:c.3292A>C, XM_047423050.1:c.3292A>G, XM_047423051.1:c.3292A>C, XM_047423051.1:c.3292A>G, XM_047423066.1:c.3052A>C, XM_047423066.1:c.3052A>G, XM_047423052.1:c.3292A>C, XM_047423052.1:c.3292A>G, XM_047423056.1:c.3292A>C, XM_047423056.1:c.3292A>G, XM_047423043.1:c.3292A>C, XM_047423043.1:c.3292A>G, XM_047423047.1:c.3292A>C, XM_047423047.1:c.3292A>G, XM_047423042.1:c.3292A>C, XM_047423042.1:c.3292A>G, XM_047423055.1:c.3292A>C, XM_047423055.1:c.3292A>G, XM_047423045.1:c.3292A>C, XM_047423045.1:c.3292A>G, XM_047423044.1:c.3292A>C, XM_047423044.1:c.3292A>G, XM_047423046.1:c.3292A>C, XM_047423046.1:c.3292A>G, XM_047423054.1:c.3292A>C, XM_047423054.1:c.3292A>G, XM_047423057.1:c.3292A>C, XM_047423057.1:c.3292A>G, XM_047423064.1:c.3238A>C, XM_047423064.1:c.3238A>G, XM_047423065.1:c.3238A>C, XM_047423065.1:c.3238A>G, XM_047423061.1:c.3238A>C, XM_047423061.1:c.3238A>G, XM_047423062.1:c.3238A>C, XM_047423062.1:c.3238A>G, XM_047423063.1:c.3238A>C, XM_047423063.1:c.3238A>G, XM_047423070.1:c.3052A>C, XM_047423070.1:c.3052A>G, XM_047423068.1:c.3052A>C, XM_047423068.1:c.3052A>G, XM_047423072.1:c.2998A>C, XM_047423072.1:c.2998A>G, XM_047423074.1:c.2818A>C, XM_047423074.1:c.2818A>G, XM_047423069.1:c.3052A>C, XM_047423069.1:c.3052A>G, XM_047423075.1:c.2764A>C, XM_047423075.1:c.2764A>G, XM_047423078.1:c.2524A>C, XM_047423078.1:c.2524A>G, XM_047423071.1:c.2998A>C, XM_047423071.1:c.2998A>G, XM_047423076.1:c.2578A>C, XM_047423076.1:c.2578A>G, XM_047423077.1:c.2524A>C, XM_047423077.1:c.2524A>G, XM_047423079.1:c.2818A>C, XM_047423079.1:c.2818A>G, NP_694856.1:p.Asn940His, NP_694856.1:p.Asn940Asp, NP_055973.2:p.Asn1098His, NP_055973.2:p.Asn1098Asp, NP_001243806.1:p.Asn1098His, NP_001243806.1:p.Asn1098Asp, NP_001243805.1:p.Asn1098His, NP_001243805.1:p.Asn1098Asp, NP_001341263.1:p.Asn1098His, NP_001341263.1:p.Asn1098Asp, NP_001341262.1:p.Asn940His, NP_001341262.1:p.Asn940Asp, NP_001341270.1:p.Asn940His, NP_001341270.1:p.Asn940Asp, NP_001341264.1:p.Asn940His, NP_001341264.1:p.Asn940Asp, NP_001341273.1:p.Asn922His, NP_001341273.1:p.Asn922Asp, NP_001341261.1:p.Asn1080His, NP_001341261.1:p.Asn1080Asp, NP_001341266.1:p.Asn940His, NP_001341266.1:p.Asn940Asp, NP_001341267.1:p.Asn922His, NP_001341267.1:p.Asn922Asp, NP_001341269.1:p.Asn922His, NP_001341269.1:p.Asn922Asp, NP_001341272.1:p.Asn860His, NP_001341272.1:p.Asn860Asp, NP_001341271.1:p.Asn860His, NP_001341271.1:p.Asn860Asp, NP_001341260.1:p.Asn1018His, NP_001341260.1:p.Asn1018Asp, NP_001341268.1:p.Asn860His, NP_001341268.1:p.Asn860Asp, NP_001341265.1:p.Asn842His, NP_001341265.1:p.Asn842Asp, XP_024303231.1:p.Asn1098His, XP_024303231.1:p.Asn1098Asp, XP_024303234.1:p.Asn1098His, XP_024303234.1:p.Asn1098Asp, XP_024303233.1:p.Asn1098His, XP_024303233.1:p.Asn1098Asp, XP_024303235.1:p.Asn1098His, XP_024303235.1:p.Asn1098Asp, XP_047278997.1:p.Asn1098His, XP_047278997.1:p.Asn1098Asp, XP_047279016.1:p.Asn1080His, XP_047279016.1:p.Asn1080Asp, XP_047279014.1:p.Asn1080His, XP_047279014.1:p.Asn1080Asp, XP_047279005.1:p.Asn1098His, XP_047279005.1:p.Asn1098Asp, XP_047279023.1:p.Asn1018His, XP_047279023.1:p.Asn1018Asp, XP_047279004.1:p.Asn1098His, XP_047279004.1:p.Asn1098Asp, XP_047279029.1:p.Asn1000His, XP_047279029.1:p.Asn1000Asp, XP_047279009.1:p.Asn1098His, XP_047279009.1:p.Asn1098Asp, XP_047278996.1:p.Asn1098His, XP_047278996.1:p.Asn1098Asp, XP_047279015.1:p.Asn1080His, XP_047279015.1:p.Asn1080Asp, XP_047279006.1:p.Asn1098His, XP_047279006.1:p.Asn1098Asp, XP_047279007.1:p.Asn1098His, XP_047279007.1:p.Asn1098Asp, XP_047279022.1:p.Asn1018His, XP_047279022.1:p.Asn1018Asp, XP_047279008.1:p.Asn1098His, XP_047279008.1:p.Asn1098Asp, XP_047279012.1:p.Asn1098His, XP_047279012.1:p.Asn1098Asp, XP_047278999.1:p.Asn1098His, XP_047278999.1:p.Asn1098Asp, XP_047279003.1:p.Asn1098His, XP_047279003.1:p.Asn1098Asp, XP_047278998.1:p.Asn1098His, XP_047278998.1:p.Asn1098Asp, XP_047279011.1:p.Asn1098His, XP_047279011.1:p.Asn1098Asp, XP_047279001.1:p.Asn1098His, XP_047279001.1:p.Asn1098Asp, XP_047279000.1:p.Asn1098His, XP_047279000.1:p.Asn1098Asp, XP_047279002.1:p.Asn1098His, XP_047279002.1:p.Asn1098Asp, XP_047279010.1:p.Asn1098His, XP_047279010.1:p.Asn1098Asp, XP_047279013.1:p.Asn1098His, XP_047279013.1:p.Asn1098Asp, XP_047279020.1:p.Asn1080His, XP_047279020.1:p.Asn1080Asp, XP_047279021.1:p.Asn1080His, XP_047279021.1:p.Asn1080Asp, XP_047279017.1:p.Asn1080His, XP_047279017.1:p.Asn1080Asp, XP_047279018.1:p.Asn1080His, XP_047279018.1:p.Asn1080Asp, XP_047279019.1:p.Asn1080His, XP_047279019.1:p.Asn1080Asp, XP_047279026.1:p.Asn1018His, XP_047279026.1:p.Asn1018Asp, XP_047279024.1:p.Asn1018His, XP_047279024.1:p.Asn1018Asp, XP_047279028.1:p.Asn1000His, XP_047279028.1:p.Asn1000Asp, XP_047279030.1:p.Asn940His, XP_047279030.1:p.Asn940Asp, XP_047279025.1:p.Asn1018His, XP_047279025.1:p.Asn1018Asp, XP_047279031.1:p.Asn922His, XP_047279031.1:p.Asn922Asp, XP_047279034.1:p.Asn842His, XP_047279034.1:p.Asn842Asp, XP_047279027.1:p.Asn1000His, XP_047279027.1:p.Asn1000Asp, XP_047279032.1:p.Asn860His, XP_047279032.1:p.Asn860Asp, XP_047279033.1:p.Asn842His, XP_047279033.1:p.Asn842Asp, XP_047279035.1:p.Asn940His, XP_047279035.1:p.Asn940Asp

                8.

                rs1484945272 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:745211 (GRCh38)
                  9:745211 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:745210:C:T
                  Gene:
                  KANK1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  T=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.745211C>T, NC_000009.11:g.745211C>T, NG_016331.2:g.279918C>T, NM_153186.6:c.3561C>T, NM_153186.5:c.3561C>T, NM_153186.4:c.3561C>T, NM_015158.5:c.4035C>T, NM_015158.4:c.4035C>T, NM_015158.3:c.4035C>T, NM_001256877.3:c.4035C>T, NM_001256877.2:c.4035C>T, NM_001256877.1:c.4035C>T, NM_001256876.3:c.4035C>T, NM_001256876.2:c.4035C>T, NM_001256876.1:c.4035C>T, NM_001354334.2:c.4035C>T, NM_001354334.1:c.4035C>T, NM_001354333.2:c.3561C>T, NM_001354333.1:c.3561C>T, NM_001354341.2:c.3561C>T, NM_001354341.1:c.3561C>T, NR_148869.2:n.4163C>T, NR_148869.1:n.4539C>T, NM_001354335.2:c.3561C>T, NM_001354335.1:c.3561C>T, NM_001354344.2:c.3507C>T, NM_001354344.1:c.3507C>T, NM_001354332.2:c.3981C>T, NM_001354332.1:c.3981C>T, NM_001354337.2:c.3561C>T, NM_001354337.1:c.3561C>T, NM_001354338.2:c.3507C>T, NM_001354338.1:c.3507C>T, NM_001354340.2:c.3507C>T, NM_001354340.1:c.3507C>T, NM_001354343.2:c.3321C>T, NM_001354343.1:c.3321C>T, NM_001354342.2:c.3321C>T, NM_001354342.1:c.3321C>T, NM_001354331.2:c.3795C>T, NM_001354331.1:c.3795C>T, NM_001354339.2:c.3321C>T, NM_001354339.1:c.3321C>T, NM_001354336.2:c.3267C>T, NM_001354336.1:c.3267C>T, XM_024447463.2:c.4035C>T, XM_024447463.1:c.4035C>T, XM_024447466.2:c.4035C>T, XM_024447466.1:c.4035C>T, XM_024447465.2:c.4035C>T, XM_024447465.1:c.4035C>T, XM_024447467.2:c.4035C>T, XM_024447467.1:c.4035C>T, XM_047423041.1:c.4035C>T, XM_047423060.1:c.3981C>T, XM_047423058.1:c.3981C>T, XM_047423049.1:c.4035C>T, XM_047423067.1:c.3795C>T, XM_047423048.1:c.4035C>T, XM_047423073.1:c.3741C>T, XM_047423053.1:c.4035C>T, XM_047423040.1:c.4035C>T, XM_047423059.1:c.3981C>T, XM_047423050.1:c.4035C>T, XM_047423051.1:c.4035C>T, XM_047423066.1:c.3795C>T, XM_047423052.1:c.4035C>T, XM_047423056.1:c.4035C>T, XM_047423043.1:c.4035C>T, XM_047423047.1:c.4035C>T, XM_047423042.1:c.4035C>T, XM_047423055.1:c.4035C>T, XM_047423045.1:c.4035C>T, XM_047423044.1:c.4035C>T, XM_047423046.1:c.4035C>T, XM_047423054.1:c.4035C>T, XM_047423057.1:c.4035C>T, XM_047423064.1:c.3981C>T, XM_047423065.1:c.3981C>T, XM_047423061.1:c.3981C>T, XM_047423062.1:c.3981C>T, XM_047423063.1:c.3981C>T, XM_047423070.1:c.3795C>T, XM_047423068.1:c.3795C>T, XM_047423072.1:c.3741C>T, XM_047423074.1:c.3561C>T, XM_047423069.1:c.3795C>T, XM_047423075.1:c.3507C>T, XM_047423078.1:c.3267C>T, XM_047423071.1:c.3741C>T, XM_047423076.1:c.3321C>T, XM_047423077.1:c.3267C>T

                  9.

                  rs1484691746 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:712447 (GRCh38)
                    9:712447 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:712446:G:A
                    Gene:
                    KANK1 (Varview), LOC107987042 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000009.12:g.712447G>A, NC_000009.11:g.712447G>A, NG_016331.2:g.247154G>A, NM_153186.6:c.1207G>A, NM_153186.5:c.1207G>A, NM_153186.4:c.1207G>A, NM_015158.5:c.1681G>A, NM_015158.4:c.1681G>A, NM_015158.3:c.1681G>A, NM_001256877.3:c.1681G>A, NM_001256877.2:c.1681G>A, NM_001256877.1:c.1681G>A, NM_001256876.3:c.1681G>A, NM_001256876.2:c.1681G>A, NM_001256876.1:c.1681G>A, NM_001354334.2:c.1681G>A, NM_001354334.1:c.1681G>A, NM_001354333.2:c.1207G>A, NM_001354333.1:c.1207G>A, NM_001354341.2:c.1207G>A, NM_001354341.1:c.1207G>A, NR_148869.2:n.1843G>A, NR_148869.1:n.2219G>A, NM_001354335.2:c.1207G>A, NM_001354335.1:c.1207G>A, NM_001354344.2:c.1207G>A, NM_001354344.1:c.1207G>A, NM_001354332.2:c.1681G>A, NM_001354332.1:c.1681G>A, NM_001354337.2:c.1207G>A, NM_001354337.1:c.1207G>A, NM_001354338.2:c.1207G>A, NM_001354338.1:c.1207G>A, NM_001354340.2:c.1207G>A, NM_001354340.1:c.1207G>A, NM_001354343.2:c.1207G>A, NM_001354343.1:c.1207G>A, NM_001354342.2:c.1207G>A, NM_001354342.1:c.1207G>A, NM_001354331.2:c.1681G>A, NM_001354331.1:c.1681G>A, NM_001354339.2:c.1207G>A, NM_001354339.1:c.1207G>A, NM_001354336.2:c.1207G>A, NM_001354336.1:c.1207G>A, XM_024447463.2:c.1681G>A, XM_024447463.1:c.1681G>A, XM_024447466.2:c.1681G>A, XM_024447466.1:c.1681G>A, XM_024447465.2:c.1681G>A, XM_024447465.1:c.1681G>A, XM_024447467.2:c.1681G>A, XM_024447467.1:c.1681G>A, XM_047423041.1:c.1681G>A, XM_047423060.1:c.1681G>A, XM_047423058.1:c.1681G>A, XM_047423049.1:c.1681G>A, XM_047423067.1:c.1681G>A, XM_047423048.1:c.1681G>A, XM_047423073.1:c.1681G>A, XM_047423053.1:c.1681G>A, XM_047423040.1:c.1681G>A, XM_047423059.1:c.1681G>A, XM_047423050.1:c.1681G>A, XM_047423051.1:c.1681G>A, XM_047423066.1:c.1681G>A, XM_047423052.1:c.1681G>A, XM_047423056.1:c.1681G>A, XM_047423043.1:c.1681G>A, XM_047423047.1:c.1681G>A, XM_047423042.1:c.1681G>A, XM_047423055.1:c.1681G>A, XM_047423045.1:c.1681G>A, XM_047423044.1:c.1681G>A, XM_047423046.1:c.1681G>A, XM_047423054.1:c.1681G>A, XM_047423057.1:c.1681G>A, XM_047423064.1:c.1681G>A, XM_047423065.1:c.1681G>A, XM_047423061.1:c.1681G>A, XM_047423062.1:c.1681G>A, XM_047423063.1:c.1681G>A, XM_047423070.1:c.1681G>A, XM_047423068.1:c.1681G>A, XM_047423072.1:c.1681G>A, XM_047423074.1:c.1207G>A, XM_047423069.1:c.1681G>A, XM_047423075.1:c.1207G>A, XM_047423078.1:c.1207G>A, XM_047423071.1:c.1681G>A, XM_047423076.1:c.1207G>A, XM_047423077.1:c.1207G>A, XM_047423079.1:c.1207G>A, NP_694856.1:p.Gly403Arg, NP_055973.2:p.Gly561Arg, NP_001243806.1:p.Gly561Arg, NP_001243805.1:p.Gly561Arg, NP_001341263.1:p.Gly561Arg, NP_001341262.1:p.Gly403Arg, NP_001341270.1:p.Gly403Arg, NP_001341264.1:p.Gly403Arg, NP_001341273.1:p.Gly403Arg, NP_001341261.1:p.Gly561Arg, NP_001341266.1:p.Gly403Arg, NP_001341267.1:p.Gly403Arg, NP_001341269.1:p.Gly403Arg, NP_001341272.1:p.Gly403Arg, NP_001341271.1:p.Gly403Arg, NP_001341260.1:p.Gly561Arg, NP_001341268.1:p.Gly403Arg, NP_001341265.1:p.Gly403Arg, XP_024303231.1:p.Gly561Arg, XP_024303234.1:p.Gly561Arg, XP_024303233.1:p.Gly561Arg, XP_024303235.1:p.Gly561Arg, XP_047278997.1:p.Gly561Arg, XP_047279016.1:p.Gly561Arg, XP_047279014.1:p.Gly561Arg, XP_047279005.1:p.Gly561Arg, XP_047279023.1:p.Gly561Arg, XP_047279004.1:p.Gly561Arg, XP_047279029.1:p.Gly561Arg, XP_047279009.1:p.Gly561Arg, XP_047278996.1:p.Gly561Arg, XP_047279015.1:p.Gly561Arg, XP_047279006.1:p.Gly561Arg, XP_047279007.1:p.Gly561Arg, XP_047279022.1:p.Gly561Arg, XP_047279008.1:p.Gly561Arg, XP_047279012.1:p.Gly561Arg, XP_047278999.1:p.Gly561Arg, XP_047279003.1:p.Gly561Arg, XP_047278998.1:p.Gly561Arg, XP_047279011.1:p.Gly561Arg, XP_047279001.1:p.Gly561Arg, XP_047279000.1:p.Gly561Arg, XP_047279002.1:p.Gly561Arg, XP_047279010.1:p.Gly561Arg, XP_047279013.1:p.Gly561Arg, XP_047279020.1:p.Gly561Arg, XP_047279021.1:p.Gly561Arg, XP_047279017.1:p.Gly561Arg, XP_047279018.1:p.Gly561Arg, XP_047279019.1:p.Gly561Arg, XP_047279026.1:p.Gly561Arg, XP_047279024.1:p.Gly561Arg, XP_047279028.1:p.Gly561Arg, XP_047279030.1:p.Gly403Arg, XP_047279025.1:p.Gly561Arg, XP_047279031.1:p.Gly403Arg, XP_047279034.1:p.Gly403Arg, XP_047279027.1:p.Gly561Arg, XP_047279032.1:p.Gly403Arg, XP_047279033.1:p.Gly403Arg, XP_047279035.1:p.Gly403Arg

                    10.

                    rs1483201478 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      9:731261 (GRCh38)
                      9:731261 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:731260:T:G
                      Gene:
                      KANK1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000009.12:g.731261T>G, NC_000009.11:g.731261T>G, NG_016331.2:g.265968T>G, NM_153186.6:c.2526T>G, NM_153186.5:c.2526T>G, NM_153186.4:c.2526T>G, NM_015158.5:c.3000T>G, NM_015158.4:c.3000T>G, NM_015158.3:c.3000T>G, NM_001256877.3:c.3000T>G, NM_001256877.2:c.3000T>G, NM_001256877.1:c.3000T>G, NM_001256876.3:c.3000T>G, NM_001256876.2:c.3000T>G, NM_001256876.1:c.3000T>G, NM_001354334.2:c.3000T>G, NM_001354334.1:c.3000T>G, NM_001354333.2:c.2526T>G, NM_001354333.1:c.2526T>G, NM_001354341.2:c.2526T>G, NM_001354341.1:c.2526T>G, NR_148869.2:n.3162T>G, NR_148869.1:n.3538T>G, NM_001354335.2:c.2526T>G, NM_001354335.1:c.2526T>G, NM_001354344.2:c.2472T>G, NM_001354344.1:c.2472T>G, NM_001354332.2:c.2946T>G, NM_001354332.1:c.2946T>G, NM_001354337.2:c.2526T>G, NM_001354337.1:c.2526T>G, NM_001354338.2:c.2472T>G, NM_001354338.1:c.2472T>G, NM_001354340.2:c.2472T>G, NM_001354340.1:c.2472T>G, NM_001354343.2:c.2526T>G, NM_001354343.1:c.2526T>G, NM_001354342.2:c.2526T>G, NM_001354342.1:c.2526T>G, NM_001354331.2:c.3000T>G, NM_001354331.1:c.3000T>G, NM_001354339.2:c.2526T>G, NM_001354339.1:c.2526T>G, NM_001354336.2:c.2472T>G, NM_001354336.1:c.2472T>G, XM_024447463.2:c.3000T>G, XM_024447463.1:c.3000T>G, XM_024447466.2:c.3000T>G, XM_024447466.1:c.3000T>G, XM_024447465.2:c.3000T>G, XM_024447465.1:c.3000T>G, XM_024447467.2:c.3000T>G, XM_024447467.1:c.3000T>G, XM_047423041.1:c.3000T>G, XM_047423060.1:c.2946T>G, XM_047423058.1:c.2946T>G, XM_047423049.1:c.3000T>G, XM_047423067.1:c.3000T>G, XM_047423048.1:c.3000T>G, XM_047423073.1:c.2946T>G, XM_047423053.1:c.3000T>G, XM_047423040.1:c.3000T>G, XM_047423059.1:c.2946T>G, XM_047423050.1:c.3000T>G, XM_047423051.1:c.3000T>G, XM_047423066.1:c.3000T>G, XM_047423052.1:c.3000T>G, XM_047423056.1:c.3000T>G, XM_047423043.1:c.3000T>G, XM_047423047.1:c.3000T>G, XM_047423042.1:c.3000T>G, XM_047423055.1:c.3000T>G, XM_047423045.1:c.3000T>G, XM_047423044.1:c.3000T>G, XM_047423046.1:c.3000T>G, XM_047423054.1:c.3000T>G, XM_047423057.1:c.3000T>G, XM_047423064.1:c.2946T>G, XM_047423065.1:c.2946T>G, XM_047423061.1:c.2946T>G, XM_047423062.1:c.2946T>G, XM_047423063.1:c.2946T>G, XM_047423070.1:c.3000T>G, XM_047423068.1:c.3000T>G, XM_047423072.1:c.2946T>G, XM_047423074.1:c.2526T>G, XM_047423069.1:c.3000T>G, XM_047423075.1:c.2472T>G, XM_047423078.1:c.2472T>G, XM_047423071.1:c.2946T>G, XM_047423076.1:c.2526T>G, XM_047423077.1:c.2472T>G, XM_047423079.1:c.2526T>G, NP_694856.1:p.Asn842Lys, NP_055973.2:p.Asn1000Lys, NP_001243806.1:p.Asn1000Lys, NP_001243805.1:p.Asn1000Lys, NP_001341263.1:p.Asn1000Lys, NP_001341262.1:p.Asn842Lys, NP_001341270.1:p.Asn842Lys, NP_001341264.1:p.Asn842Lys, NP_001341273.1:p.Asn824Lys, NP_001341261.1:p.Asn982Lys, NP_001341266.1:p.Asn842Lys, NP_001341267.1:p.Asn824Lys, NP_001341269.1:p.Asn824Lys, NP_001341272.1:p.Asn842Lys, NP_001341271.1:p.Asn842Lys, NP_001341260.1:p.Asn1000Lys, NP_001341268.1:p.Asn842Lys, NP_001341265.1:p.Asn824Lys, XP_024303231.1:p.Asn1000Lys, XP_024303234.1:p.Asn1000Lys, XP_024303233.1:p.Asn1000Lys, XP_024303235.1:p.Asn1000Lys, XP_047278997.1:p.Asn1000Lys, XP_047279016.1:p.Asn982Lys, XP_047279014.1:p.Asn982Lys, XP_047279005.1:p.Asn1000Lys, XP_047279023.1:p.Asn1000Lys, XP_047279004.1:p.Asn1000Lys, XP_047279029.1:p.Asn982Lys, XP_047279009.1:p.Asn1000Lys, XP_047278996.1:p.Asn1000Lys, XP_047279015.1:p.Asn982Lys, XP_047279006.1:p.Asn1000Lys, XP_047279007.1:p.Asn1000Lys, XP_047279022.1:p.Asn1000Lys, XP_047279008.1:p.Asn1000Lys, XP_047279012.1:p.Asn1000Lys, XP_047278999.1:p.Asn1000Lys, XP_047279003.1:p.Asn1000Lys, XP_047278998.1:p.Asn1000Lys, XP_047279011.1:p.Asn1000Lys, XP_047279001.1:p.Asn1000Lys, XP_047279000.1:p.Asn1000Lys, XP_047279002.1:p.Asn1000Lys, XP_047279010.1:p.Asn1000Lys, XP_047279013.1:p.Asn1000Lys, XP_047279020.1:p.Asn982Lys, XP_047279021.1:p.Asn982Lys, XP_047279017.1:p.Asn982Lys, XP_047279018.1:p.Asn982Lys, XP_047279019.1:p.Asn982Lys, XP_047279026.1:p.Asn1000Lys, XP_047279024.1:p.Asn1000Lys, XP_047279028.1:p.Asn982Lys, XP_047279030.1:p.Asn842Lys, XP_047279025.1:p.Asn1000Lys, XP_047279031.1:p.Asn824Lys, XP_047279034.1:p.Asn824Lys, XP_047279027.1:p.Asn982Lys, XP_047279032.1:p.Asn842Lys, XP_047279033.1:p.Asn824Lys, XP_047279035.1:p.Asn842Lys

                      11.

                      rs1482739072 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:712004 (GRCh38)
                        9:712004 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:712003:T:C
                        Gene:
                        KANK1 (Varview), LOC107987042 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.712004T>C, NC_000009.11:g.712004T>C, NG_016331.2:g.246711T>C, NM_153186.6:c.764T>C, NM_153186.5:c.764T>C, NM_153186.4:c.764T>C, NM_015158.5:c.1238T>C, NM_015158.4:c.1238T>C, NM_015158.3:c.1238T>C, NM_001256877.3:c.1238T>C, NM_001256877.2:c.1238T>C, NM_001256877.1:c.1238T>C, NM_001256876.3:c.1238T>C, NM_001256876.2:c.1238T>C, NM_001256876.1:c.1238T>C, NM_001354334.2:c.1238T>C, NM_001354334.1:c.1238T>C, NM_001354333.2:c.764T>C, NM_001354333.1:c.764T>C, NM_001354341.2:c.764T>C, NM_001354341.1:c.764T>C, NR_148869.2:n.1400T>C, NR_148869.1:n.1776T>C, NM_001354335.2:c.764T>C, NM_001354335.1:c.764T>C, NM_001354344.2:c.764T>C, NM_001354344.1:c.764T>C, NM_001354332.2:c.1238T>C, NM_001354332.1:c.1238T>C, NM_001354337.2:c.764T>C, NM_001354337.1:c.764T>C, NM_001354338.2:c.764T>C, NM_001354338.1:c.764T>C, NM_001354340.2:c.764T>C, NM_001354340.1:c.764T>C, NM_001354343.2:c.764T>C, NM_001354343.1:c.764T>C, NM_001354342.2:c.764T>C, NM_001354342.1:c.764T>C, NM_001354331.2:c.1238T>C, NM_001354331.1:c.1238T>C, NM_001354339.2:c.764T>C, NM_001354339.1:c.764T>C, NM_001354336.2:c.764T>C, NM_001354336.1:c.764T>C, XM_024447463.2:c.1238T>C, XM_024447463.1:c.1238T>C, XM_024447466.2:c.1238T>C, XM_024447466.1:c.1238T>C, XM_024447465.2:c.1238T>C, XM_024447465.1:c.1238T>C, XM_024447467.2:c.1238T>C, XM_024447467.1:c.1238T>C, XM_047423041.1:c.1238T>C, XM_047423060.1:c.1238T>C, XM_047423058.1:c.1238T>C, XM_047423049.1:c.1238T>C, XM_047423067.1:c.1238T>C, XM_047423048.1:c.1238T>C, XM_047423073.1:c.1238T>C, XM_047423053.1:c.1238T>C, XM_047423040.1:c.1238T>C, XM_047423059.1:c.1238T>C, XM_047423050.1:c.1238T>C, XM_047423051.1:c.1238T>C, XM_047423066.1:c.1238T>C, XM_047423052.1:c.1238T>C, XM_047423056.1:c.1238T>C, XM_047423043.1:c.1238T>C, XM_047423047.1:c.1238T>C, XM_047423042.1:c.1238T>C, XM_047423055.1:c.1238T>C, XM_047423045.1:c.1238T>C, XM_047423044.1:c.1238T>C, XM_047423046.1:c.1238T>C, XM_047423054.1:c.1238T>C, XM_047423057.1:c.1238T>C, XM_047423064.1:c.1238T>C, XM_047423065.1:c.1238T>C, XM_047423061.1:c.1238T>C, XM_047423062.1:c.1238T>C, XM_047423063.1:c.1238T>C, XM_047423070.1:c.1238T>C, XM_047423068.1:c.1238T>C, XM_047423072.1:c.1238T>C, XM_047423074.1:c.764T>C, XM_047423069.1:c.1238T>C, XM_047423075.1:c.764T>C, XM_047423078.1:c.764T>C, XM_047423071.1:c.1238T>C, XM_047423076.1:c.764T>C, XM_047423077.1:c.764T>C, XM_047423079.1:c.764T>C, NP_694856.1:p.Val255Ala, NP_055973.2:p.Val413Ala, NP_001243806.1:p.Val413Ala, NP_001243805.1:p.Val413Ala, NP_001341263.1:p.Val413Ala, NP_001341262.1:p.Val255Ala, NP_001341270.1:p.Val255Ala, NP_001341264.1:p.Val255Ala, NP_001341273.1:p.Val255Ala, NP_001341261.1:p.Val413Ala, NP_001341266.1:p.Val255Ala, NP_001341267.1:p.Val255Ala, NP_001341269.1:p.Val255Ala, NP_001341272.1:p.Val255Ala, NP_001341271.1:p.Val255Ala, NP_001341260.1:p.Val413Ala, NP_001341268.1:p.Val255Ala, NP_001341265.1:p.Val255Ala, XP_024303231.1:p.Val413Ala, XP_024303234.1:p.Val413Ala, XP_024303233.1:p.Val413Ala, XP_024303235.1:p.Val413Ala, XP_047278997.1:p.Val413Ala, XP_047279016.1:p.Val413Ala, XP_047279014.1:p.Val413Ala, XP_047279005.1:p.Val413Ala, XP_047279023.1:p.Val413Ala, XP_047279004.1:p.Val413Ala, XP_047279029.1:p.Val413Ala, XP_047279009.1:p.Val413Ala, XP_047278996.1:p.Val413Ala, XP_047279015.1:p.Val413Ala, XP_047279006.1:p.Val413Ala, XP_047279007.1:p.Val413Ala, XP_047279022.1:p.Val413Ala, XP_047279008.1:p.Val413Ala, XP_047279012.1:p.Val413Ala, XP_047278999.1:p.Val413Ala, XP_047279003.1:p.Val413Ala, XP_047278998.1:p.Val413Ala, XP_047279011.1:p.Val413Ala, XP_047279001.1:p.Val413Ala, XP_047279000.1:p.Val413Ala, XP_047279002.1:p.Val413Ala, XP_047279010.1:p.Val413Ala, XP_047279013.1:p.Val413Ala, XP_047279020.1:p.Val413Ala, XP_047279021.1:p.Val413Ala, XP_047279017.1:p.Val413Ala, XP_047279018.1:p.Val413Ala, XP_047279019.1:p.Val413Ala, XP_047279026.1:p.Val413Ala, XP_047279024.1:p.Val413Ala, XP_047279028.1:p.Val413Ala, XP_047279030.1:p.Val255Ala, XP_047279025.1:p.Val413Ala, XP_047279031.1:p.Val255Ala, XP_047279034.1:p.Val255Ala, XP_047279027.1:p.Val413Ala, XP_047279032.1:p.Val255Ala, XP_047279033.1:p.Val255Ala, XP_047279035.1:p.Val255Ala

                        12.

                        rs1482179335 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          9:713030 (GRCh38)
                          9:713030 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:713029:A:C
                          Gene:
                          KANK1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.713030A>C, NC_000009.11:g.713030A>C, NG_016331.2:g.247737A>C, NM_153186.6:c.1790A>C, NM_153186.5:c.1790A>C, NM_153186.4:c.1790A>C, NM_015158.5:c.2264A>C, NM_015158.4:c.2264A>C, NM_015158.3:c.2264A>C, NM_001256877.3:c.2264A>C, NM_001256877.2:c.2264A>C, NM_001256877.1:c.2264A>C, NM_001256876.3:c.2264A>C, NM_001256876.2:c.2264A>C, NM_001256876.1:c.2264A>C, NM_001354334.2:c.2264A>C, NM_001354334.1:c.2264A>C, NM_001354333.2:c.1790A>C, NM_001354333.1:c.1790A>C, NM_001354341.2:c.1790A>C, NM_001354341.1:c.1790A>C, NR_148869.2:n.2426A>C, NR_148869.1:n.2802A>C, NM_001354335.2:c.1790A>C, NM_001354335.1:c.1790A>C, NM_001354344.2:c.1790A>C, NM_001354344.1:c.1790A>C, NM_001354332.2:c.2264A>C, NM_001354332.1:c.2264A>C, NM_001354337.2:c.1790A>C, NM_001354337.1:c.1790A>C, NM_001354338.2:c.1790A>C, NM_001354338.1:c.1790A>C, NM_001354340.2:c.1790A>C, NM_001354340.1:c.1790A>C, NM_001354343.2:c.1790A>C, NM_001354343.1:c.1790A>C, NM_001354342.2:c.1790A>C, NM_001354342.1:c.1790A>C, NM_001354331.2:c.2264A>C, NM_001354331.1:c.2264A>C, NM_001354339.2:c.1790A>C, NM_001354339.1:c.1790A>C, NM_001354336.2:c.1790A>C, NM_001354336.1:c.1790A>C, XM_024447463.2:c.2264A>C, XM_024447463.1:c.2264A>C, XM_024447466.2:c.2264A>C, XM_024447466.1:c.2264A>C, XM_024447465.2:c.2264A>C, XM_024447465.1:c.2264A>C, XM_024447467.2:c.2264A>C, XM_024447467.1:c.2264A>C, XM_047423041.1:c.2264A>C, XM_047423060.1:c.2264A>C, XM_047423058.1:c.2264A>C, XM_047423049.1:c.2264A>C, XM_047423067.1:c.2264A>C, XM_047423048.1:c.2264A>C, XM_047423073.1:c.2264A>C, XM_047423053.1:c.2264A>C, XM_047423040.1:c.2264A>C, XM_047423059.1:c.2264A>C, XM_047423050.1:c.2264A>C, XM_047423051.1:c.2264A>C, XM_047423066.1:c.2264A>C, XM_047423052.1:c.2264A>C, XM_047423056.1:c.2264A>C, XM_047423043.1:c.2264A>C, XM_047423047.1:c.2264A>C, XM_047423042.1:c.2264A>C, XM_047423055.1:c.2264A>C, XM_047423045.1:c.2264A>C, XM_047423044.1:c.2264A>C, XM_047423046.1:c.2264A>C, XM_047423054.1:c.2264A>C, XM_047423057.1:c.2264A>C, XM_047423064.1:c.2264A>C, XM_047423065.1:c.2264A>C, XM_047423061.1:c.2264A>C, XM_047423062.1:c.2264A>C, XM_047423063.1:c.2264A>C, XM_047423070.1:c.2264A>C, XM_047423068.1:c.2264A>C, XM_047423072.1:c.2264A>C, XM_047423074.1:c.1790A>C, XM_047423069.1:c.2264A>C, XM_047423075.1:c.1790A>C, XM_047423078.1:c.1790A>C, XM_047423071.1:c.2264A>C, XM_047423076.1:c.1790A>C, XM_047423077.1:c.1790A>C, XM_047423079.1:c.1790A>C, NP_694856.1:p.Lys597Thr, NP_055973.2:p.Lys755Thr, NP_001243806.1:p.Lys755Thr, NP_001243805.1:p.Lys755Thr, NP_001341263.1:p.Lys755Thr, NP_001341262.1:p.Lys597Thr, NP_001341270.1:p.Lys597Thr, NP_001341264.1:p.Lys597Thr, NP_001341273.1:p.Lys597Thr, NP_001341261.1:p.Lys755Thr, NP_001341266.1:p.Lys597Thr, NP_001341267.1:p.Lys597Thr, NP_001341269.1:p.Lys597Thr, NP_001341272.1:p.Lys597Thr, NP_001341271.1:p.Lys597Thr, NP_001341260.1:p.Lys755Thr, NP_001341268.1:p.Lys597Thr, NP_001341265.1:p.Lys597Thr, XP_024303231.1:p.Lys755Thr, XP_024303234.1:p.Lys755Thr, XP_024303233.1:p.Lys755Thr, XP_024303235.1:p.Lys755Thr, XP_047278997.1:p.Lys755Thr, XP_047279016.1:p.Lys755Thr, XP_047279014.1:p.Lys755Thr, XP_047279005.1:p.Lys755Thr, XP_047279023.1:p.Lys755Thr, XP_047279004.1:p.Lys755Thr, XP_047279029.1:p.Lys755Thr, XP_047279009.1:p.Lys755Thr, XP_047278996.1:p.Lys755Thr, XP_047279015.1:p.Lys755Thr, XP_047279006.1:p.Lys755Thr, XP_047279007.1:p.Lys755Thr, XP_047279022.1:p.Lys755Thr, XP_047279008.1:p.Lys755Thr, XP_047279012.1:p.Lys755Thr, XP_047278999.1:p.Lys755Thr, XP_047279003.1:p.Lys755Thr, XP_047278998.1:p.Lys755Thr, XP_047279011.1:p.Lys755Thr, XP_047279001.1:p.Lys755Thr, XP_047279000.1:p.Lys755Thr, XP_047279002.1:p.Lys755Thr, XP_047279010.1:p.Lys755Thr, XP_047279013.1:p.Lys755Thr, XP_047279020.1:p.Lys755Thr, XP_047279021.1:p.Lys755Thr, XP_047279017.1:p.Lys755Thr, XP_047279018.1:p.Lys755Thr, XP_047279019.1:p.Lys755Thr, XP_047279026.1:p.Lys755Thr, XP_047279024.1:p.Lys755Thr, XP_047279028.1:p.Lys755Thr, XP_047279030.1:p.Lys597Thr, XP_047279025.1:p.Lys755Thr, XP_047279031.1:p.Lys597Thr, XP_047279034.1:p.Lys597Thr, XP_047279027.1:p.Lys755Thr, XP_047279032.1:p.Lys597Thr, XP_047279033.1:p.Lys597Thr, XP_047279035.1:p.Lys597Thr

                          13.

                          rs1481812195 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAG>- [Show Flanks]
                            Chromosome:
                            9:740872 (GRCh38)
                            9:740872 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:740869:AGAAG:AG
                            Gene:
                            KANK1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,inframe_deletion,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa
                            MAF:
                            AG=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000009.12:g.740872_740874del, NC_000009.11:g.740872_740874del, NG_016331.2:g.275579_275581del, NM_153186.6:c.3160_3162del, NM_153186.5:c.3160_3162del, NM_153186.4:c.3160_3162del, NM_015158.5:c.3634_3636del, NM_015158.4:c.3634_3636del, NM_015158.3:c.3634_3636del, NM_001256877.3:c.3634_3636del, NM_001256877.2:c.3634_3636del, NM_001256877.1:c.3634_3636del, NM_001256876.3:c.3634_3636del, NM_001256876.2:c.3634_3636del, NM_001256876.1:c.3634_3636del, NM_001354334.2:c.3634_3636del, NM_001354334.1:c.3634_3636del, NM_001354333.2:c.3160_3162del, NM_001354333.1:c.3160_3162del, NM_001354341.2:c.3160_3162del, NM_001354341.1:c.3160_3162del, NR_148869.2:n.3762_3764del, NR_148869.1:n.4138_4140del, NM_001354335.2:c.3160_3162del, NM_001354335.1:c.3160_3162del, NM_001354344.2:c.3106_3108del, NM_001354344.1:c.3106_3108del, NM_001354332.2:c.3580_3582del, NM_001354332.1:c.3580_3582del, NM_001354337.2:c.3160_3162del, NM_001354337.1:c.3160_3162del, NM_001354338.2:c.3106_3108del, NM_001354338.1:c.3106_3108del, NM_001354340.2:c.3106_3108del, NM_001354340.1:c.3106_3108del, NM_001354343.2:c.2920_2922del, NM_001354343.1:c.2920_2922del, NM_001354342.2:c.2920_2922del, NM_001354342.1:c.2920_2922del, NM_001354331.2:c.3394_3396del, NM_001354331.1:c.3394_3396del, NM_001354339.2:c.2920_2922del, NM_001354339.1:c.2920_2922del, NM_001354336.2:c.2866_2868del, NM_001354336.1:c.2866_2868del, XM_024447463.2:c.3634_3636del, XM_024447463.1:c.3634_3636del, XM_024447466.2:c.3634_3636del, XM_024447466.1:c.3634_3636del, XM_024447465.2:c.3634_3636del, XM_024447465.1:c.3634_3636del, XM_024447467.2:c.3634_3636del, XM_024447467.1:c.3634_3636del, XM_047423041.1:c.3634_3636del, XM_047423060.1:c.3580_3582del, XM_047423058.1:c.3580_3582del, XM_047423049.1:c.3634_3636del, XM_047423067.1:c.3394_3396del, XM_047423048.1:c.3634_3636del, XM_047423073.1:c.3340_3342del, XM_047423053.1:c.3634_3636del, XM_047423040.1:c.3634_3636del, XM_047423059.1:c.3580_3582del, XM_047423050.1:c.3634_3636del, XM_047423051.1:c.3634_3636del, XM_047423066.1:c.3394_3396del, XM_047423052.1:c.3634_3636del, XM_047423056.1:c.3634_3636del, XM_047423043.1:c.3634_3636del, XM_047423047.1:c.3634_3636del, XM_047423042.1:c.3634_3636del, XM_047423055.1:c.3634_3636del, XM_047423045.1:c.3634_3636del, XM_047423044.1:c.3634_3636del, XM_047423046.1:c.3634_3636del, XM_047423054.1:c.3634_3636del, XM_047423057.1:c.3634_3636del, XM_047423064.1:c.3580_3582del, XM_047423065.1:c.3580_3582del, XM_047423061.1:c.3580_3582del, XM_047423062.1:c.3580_3582del, XM_047423063.1:c.3580_3582del, XM_047423070.1:c.3394_3396del, XM_047423068.1:c.3394_3396del, XM_047423072.1:c.3340_3342del, XM_047423074.1:c.3160_3162del, XM_047423069.1:c.3394_3396del, XM_047423075.1:c.3106_3108del, XM_047423078.1:c.2866_2868del, XM_047423071.1:c.3340_3342del, XM_047423076.1:c.2920_2922del, XM_047423077.1:c.2866_2868del, NP_694856.1:p.Lys1054del, NP_055973.2:p.Lys1212del, NP_001243806.1:p.Lys1212del, NP_001243805.1:p.Lys1212del, NP_001341263.1:p.Lys1212del, NP_001341262.1:p.Lys1054del, NP_001341270.1:p.Lys1054del, NP_001341264.1:p.Lys1054del, NP_001341273.1:p.Lys1036del, NP_001341261.1:p.Lys1194del, NP_001341266.1:p.Lys1054del, NP_001341267.1:p.Lys1036del, NP_001341269.1:p.Lys1036del, NP_001341272.1:p.Lys974del, NP_001341271.1:p.Lys974del, NP_001341260.1:p.Lys1132del, NP_001341268.1:p.Lys974del, NP_001341265.1:p.Lys956del, XP_024303231.1:p.Lys1212del, XP_024303234.1:p.Lys1212del, XP_024303233.1:p.Lys1212del, XP_024303235.1:p.Lys1212del, XP_047278997.1:p.Lys1212del, XP_047279016.1:p.Lys1194del, XP_047279014.1:p.Lys1194del, XP_047279005.1:p.Lys1212del, XP_047279023.1:p.Lys1132del, XP_047279004.1:p.Lys1212del, XP_047279029.1:p.Lys1114del, XP_047279009.1:p.Lys1212del, XP_047278996.1:p.Lys1212del, XP_047279015.1:p.Lys1194del, XP_047279006.1:p.Lys1212del, XP_047279007.1:p.Lys1212del, XP_047279022.1:p.Lys1132del, XP_047279008.1:p.Lys1212del, XP_047279012.1:p.Lys1212del, XP_047278999.1:p.Lys1212del, XP_047279003.1:p.Lys1212del, XP_047278998.1:p.Lys1212del, XP_047279011.1:p.Lys1212del, XP_047279001.1:p.Lys1212del, XP_047279000.1:p.Lys1212del, XP_047279002.1:p.Lys1212del, XP_047279010.1:p.Lys1212del, XP_047279013.1:p.Lys1212del, XP_047279020.1:p.Lys1194del, XP_047279021.1:p.Lys1194del, XP_047279017.1:p.Lys1194del, XP_047279018.1:p.Lys1194del, XP_047279019.1:p.Lys1194del, XP_047279026.1:p.Lys1132del, XP_047279024.1:p.Lys1132del, XP_047279028.1:p.Lys1114del, XP_047279030.1:p.Lys1054del, XP_047279025.1:p.Lys1132del, XP_047279031.1:p.Lys1036del, XP_047279034.1:p.Lys956del, XP_047279027.1:p.Lys1114del, XP_047279032.1:p.Lys974del, XP_047279033.1:p.Lys956del

                            14.

                            rs1481355941 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:740914 (GRCh38)
                              9:740914 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:740913:G:A
                              Gene:
                              KANK1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000224/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000223/1 (Estonian)
                              HGVS:
                              NC_000009.12:g.740914G>A, NC_000009.11:g.740914G>A, NG_016331.2:g.275621G>A, NM_153186.6:c.3202G>A, NM_153186.5:c.3202G>A, NM_153186.4:c.3202G>A, NM_015158.5:c.3676G>A, NM_015158.4:c.3676G>A, NM_015158.3:c.3676G>A, NM_001256877.3:c.3676G>A, NM_001256877.2:c.3676G>A, NM_001256877.1:c.3676G>A, NM_001256876.3:c.3676G>A, NM_001256876.2:c.3676G>A, NM_001256876.1:c.3676G>A, NM_001354334.2:c.3676G>A, NM_001354334.1:c.3676G>A, NM_001354333.2:c.3202G>A, NM_001354333.1:c.3202G>A, NM_001354341.2:c.3202G>A, NM_001354341.1:c.3202G>A, NR_148869.2:n.3804G>A, NR_148869.1:n.4180G>A, NM_001354335.2:c.3202G>A, NM_001354335.1:c.3202G>A, NM_001354344.2:c.3148G>A, NM_001354344.1:c.3148G>A, NM_001354332.2:c.3622G>A, NM_001354332.1:c.3622G>A, NM_001354337.2:c.3202G>A, NM_001354337.1:c.3202G>A, NM_001354338.2:c.3148G>A, NM_001354338.1:c.3148G>A, NM_001354340.2:c.3148G>A, NM_001354340.1:c.3148G>A, NM_001354343.2:c.2962G>A, NM_001354343.1:c.2962G>A, NM_001354342.2:c.2962G>A, NM_001354342.1:c.2962G>A, NM_001354331.2:c.3436G>A, NM_001354331.1:c.3436G>A, NM_001354339.2:c.2962G>A, NM_001354339.1:c.2962G>A, NM_001354336.2:c.2908G>A, NM_001354336.1:c.2908G>A, XM_024447463.2:c.3676G>A, XM_024447463.1:c.3676G>A, XM_024447466.2:c.3676G>A, XM_024447466.1:c.3676G>A, XM_024447465.2:c.3676G>A, XM_024447465.1:c.3676G>A, XM_024447467.2:c.3676G>A, XM_024447467.1:c.3676G>A, XM_047423041.1:c.3676G>A, XM_047423060.1:c.3622G>A, XM_047423058.1:c.3622G>A, XM_047423049.1:c.3676G>A, XM_047423067.1:c.3436G>A, XM_047423048.1:c.3676G>A, XM_047423073.1:c.3382G>A, XM_047423053.1:c.3676G>A, XM_047423040.1:c.3676G>A, XM_047423059.1:c.3622G>A, XM_047423050.1:c.3676G>A, XM_047423051.1:c.3676G>A, XM_047423066.1:c.3436G>A, XM_047423052.1:c.3676G>A, XM_047423056.1:c.3676G>A, XM_047423043.1:c.3676G>A, XM_047423047.1:c.3676G>A, XM_047423042.1:c.3676G>A, XM_047423055.1:c.3676G>A, XM_047423045.1:c.3676G>A, XM_047423044.1:c.3676G>A, XM_047423046.1:c.3676G>A, XM_047423054.1:c.3676G>A, XM_047423057.1:c.3676G>A, XM_047423064.1:c.3622G>A, XM_047423065.1:c.3622G>A, XM_047423061.1:c.3622G>A, XM_047423062.1:c.3622G>A, XM_047423063.1:c.3622G>A, XM_047423070.1:c.3436G>A, XM_047423068.1:c.3436G>A, XM_047423072.1:c.3382G>A, XM_047423074.1:c.3202G>A, XM_047423069.1:c.3436G>A, XM_047423075.1:c.3148G>A, XM_047423078.1:c.2908G>A, XM_047423071.1:c.3382G>A, XM_047423076.1:c.2962G>A, XM_047423077.1:c.2908G>A, NP_694856.1:p.Val1068Met, NP_055973.2:p.Val1226Met, NP_001243806.1:p.Val1226Met, NP_001243805.1:p.Val1226Met, NP_001341263.1:p.Val1226Met, NP_001341262.1:p.Val1068Met, NP_001341270.1:p.Val1068Met, NP_001341264.1:p.Val1068Met, NP_001341273.1:p.Val1050Met, NP_001341261.1:p.Val1208Met, NP_001341266.1:p.Val1068Met, NP_001341267.1:p.Val1050Met, NP_001341269.1:p.Val1050Met, NP_001341272.1:p.Val988Met, NP_001341271.1:p.Val988Met, NP_001341260.1:p.Val1146Met, NP_001341268.1:p.Val988Met, NP_001341265.1:p.Val970Met, XP_024303231.1:p.Val1226Met, XP_024303234.1:p.Val1226Met, XP_024303233.1:p.Val1226Met, XP_024303235.1:p.Val1226Met, XP_047278997.1:p.Val1226Met, XP_047279016.1:p.Val1208Met, XP_047279014.1:p.Val1208Met, XP_047279005.1:p.Val1226Met, XP_047279023.1:p.Val1146Met, XP_047279004.1:p.Val1226Met, XP_047279029.1:p.Val1128Met, XP_047279009.1:p.Val1226Met, XP_047278996.1:p.Val1226Met, XP_047279015.1:p.Val1208Met, XP_047279006.1:p.Val1226Met, XP_047279007.1:p.Val1226Met, XP_047279022.1:p.Val1146Met, XP_047279008.1:p.Val1226Met, XP_047279012.1:p.Val1226Met, XP_047278999.1:p.Val1226Met, XP_047279003.1:p.Val1226Met, XP_047278998.1:p.Val1226Met, XP_047279011.1:p.Val1226Met, XP_047279001.1:p.Val1226Met, XP_047279000.1:p.Val1226Met, XP_047279002.1:p.Val1226Met, XP_047279010.1:p.Val1226Met, XP_047279013.1:p.Val1226Met, XP_047279020.1:p.Val1208Met, XP_047279021.1:p.Val1208Met, XP_047279017.1:p.Val1208Met, XP_047279018.1:p.Val1208Met, XP_047279019.1:p.Val1208Met, XP_047279026.1:p.Val1146Met, XP_047279024.1:p.Val1146Met, XP_047279028.1:p.Val1128Met, XP_047279030.1:p.Val1068Met, XP_047279025.1:p.Val1146Met, XP_047279031.1:p.Val1050Met, XP_047279034.1:p.Val970Met, XP_047279027.1:p.Val1128Met, XP_047279032.1:p.Val988Met, XP_047279033.1:p.Val970Met

                              15.

                              rs1481196657 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                9:712155 (GRCh38)
                                9:712155 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:712154:A:C
                                Gene:
                                KANK1 (Varview), LOC107987042 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000009.12:g.712155A>C, NC_000009.11:g.712155A>C, NG_016331.2:g.246862A>C, NM_153186.6:c.915A>C, NM_153186.5:c.915A>C, NM_153186.4:c.915A>C, NM_015158.5:c.1389A>C, NM_015158.4:c.1389A>C, NM_015158.3:c.1389A>C, NM_001256877.3:c.1389A>C, NM_001256877.2:c.1389A>C, NM_001256877.1:c.1389A>C, NM_001256876.3:c.1389A>C, NM_001256876.2:c.1389A>C, NM_001256876.1:c.1389A>C, NM_001354334.2:c.1389A>C, NM_001354334.1:c.1389A>C, NM_001354333.2:c.915A>C, NM_001354333.1:c.915A>C, NM_001354341.2:c.915A>C, NM_001354341.1:c.915A>C, NR_148869.2:n.1551A>C, NR_148869.1:n.1927A>C, NM_001354335.2:c.915A>C, NM_001354335.1:c.915A>C, NM_001354344.2:c.915A>C, NM_001354344.1:c.915A>C, NM_001354332.2:c.1389A>C, NM_001354332.1:c.1389A>C, NM_001354337.2:c.915A>C, NM_001354337.1:c.915A>C, NM_001354338.2:c.915A>C, NM_001354338.1:c.915A>C, NM_001354340.2:c.915A>C, NM_001354340.1:c.915A>C, NM_001354343.2:c.915A>C, NM_001354343.1:c.915A>C, NM_001354342.2:c.915A>C, NM_001354342.1:c.915A>C, NM_001354331.2:c.1389A>C, NM_001354331.1:c.1389A>C, NM_001354339.2:c.915A>C, NM_001354339.1:c.915A>C, NM_001354336.2:c.915A>C, NM_001354336.1:c.915A>C, XM_024447463.2:c.1389A>C, XM_024447463.1:c.1389A>C, XM_024447466.2:c.1389A>C, XM_024447466.1:c.1389A>C, XM_024447465.2:c.1389A>C, XM_024447465.1:c.1389A>C, XM_024447467.2:c.1389A>C, XM_024447467.1:c.1389A>C, XM_047423041.1:c.1389A>C, XM_047423060.1:c.1389A>C, XM_047423058.1:c.1389A>C, XM_047423049.1:c.1389A>C, XM_047423067.1:c.1389A>C, XM_047423048.1:c.1389A>C, XM_047423073.1:c.1389A>C, XM_047423053.1:c.1389A>C, XM_047423040.1:c.1389A>C, XM_047423059.1:c.1389A>C, XM_047423050.1:c.1389A>C, XM_047423051.1:c.1389A>C, XM_047423066.1:c.1389A>C, XM_047423052.1:c.1389A>C, XM_047423056.1:c.1389A>C, XM_047423043.1:c.1389A>C, XM_047423047.1:c.1389A>C, XM_047423042.1:c.1389A>C, XM_047423055.1:c.1389A>C, XM_047423045.1:c.1389A>C, XM_047423044.1:c.1389A>C, XM_047423046.1:c.1389A>C, XM_047423054.1:c.1389A>C, XM_047423057.1:c.1389A>C, XM_047423064.1:c.1389A>C, XM_047423065.1:c.1389A>C, XM_047423061.1:c.1389A>C, XM_047423062.1:c.1389A>C, XM_047423063.1:c.1389A>C, XM_047423070.1:c.1389A>C, XM_047423068.1:c.1389A>C, XM_047423072.1:c.1389A>C, XM_047423074.1:c.915A>C, XM_047423069.1:c.1389A>C, XM_047423075.1:c.915A>C, XM_047423078.1:c.915A>C, XM_047423071.1:c.1389A>C, XM_047423076.1:c.915A>C, XM_047423077.1:c.915A>C, XM_047423079.1:c.915A>C, NP_694856.1:p.Glu305Asp, NP_055973.2:p.Glu463Asp, NP_001243806.1:p.Glu463Asp, NP_001243805.1:p.Glu463Asp, NP_001341263.1:p.Glu463Asp, NP_001341262.1:p.Glu305Asp, NP_001341270.1:p.Glu305Asp, NP_001341264.1:p.Glu305Asp, NP_001341273.1:p.Glu305Asp, NP_001341261.1:p.Glu463Asp, NP_001341266.1:p.Glu305Asp, NP_001341267.1:p.Glu305Asp, NP_001341269.1:p.Glu305Asp, NP_001341272.1:p.Glu305Asp, NP_001341271.1:p.Glu305Asp, NP_001341260.1:p.Glu463Asp, NP_001341268.1:p.Glu305Asp, NP_001341265.1:p.Glu305Asp, XP_024303231.1:p.Glu463Asp, XP_024303234.1:p.Glu463Asp, XP_024303233.1:p.Glu463Asp, XP_024303235.1:p.Glu463Asp, XP_047278997.1:p.Glu463Asp, XP_047279016.1:p.Glu463Asp, XP_047279014.1:p.Glu463Asp, XP_047279005.1:p.Glu463Asp, XP_047279023.1:p.Glu463Asp, XP_047279004.1:p.Glu463Asp, XP_047279029.1:p.Glu463Asp, XP_047279009.1:p.Glu463Asp, XP_047278996.1:p.Glu463Asp, XP_047279015.1:p.Glu463Asp, XP_047279006.1:p.Glu463Asp, XP_047279007.1:p.Glu463Asp, XP_047279022.1:p.Glu463Asp, XP_047279008.1:p.Glu463Asp, XP_047279012.1:p.Glu463Asp, XP_047278999.1:p.Glu463Asp, XP_047279003.1:p.Glu463Asp, XP_047278998.1:p.Glu463Asp, XP_047279011.1:p.Glu463Asp, XP_047279001.1:p.Glu463Asp, XP_047279000.1:p.Glu463Asp, XP_047279002.1:p.Glu463Asp, XP_047279010.1:p.Glu463Asp, XP_047279013.1:p.Glu463Asp, XP_047279020.1:p.Glu463Asp, XP_047279021.1:p.Glu463Asp, XP_047279017.1:p.Glu463Asp, XP_047279018.1:p.Glu463Asp, XP_047279019.1:p.Glu463Asp, XP_047279026.1:p.Glu463Asp, XP_047279024.1:p.Glu463Asp, XP_047279028.1:p.Glu463Asp, XP_047279030.1:p.Glu305Asp, XP_047279025.1:p.Glu463Asp, XP_047279031.1:p.Glu305Asp, XP_047279034.1:p.Glu305Asp, XP_047279027.1:p.Glu463Asp, XP_047279032.1:p.Glu305Asp, XP_047279033.1:p.Glu305Asp, XP_047279035.1:p.Glu305Asp

                                16.

                                rs1480765111 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  9:711513 (GRCh38)
                                  9:711513 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:711512:C:A,NC_000009.12:711512:C:T
                                  Gene:
                                  KANK1 (Varview), LOC107987042 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000009.12:g.711513C>A, NC_000009.12:g.711513C>T, NC_000009.11:g.711513C>A, NC_000009.11:g.711513C>T, NG_016331.2:g.246220C>A, NG_016331.2:g.246220C>T, NM_153186.6:c.273C>A, NM_153186.6:c.273C>T, NM_153186.5:c.273C>A, NM_153186.5:c.273C>T, NM_153186.4:c.273C>A, NM_153186.4:c.273C>T, NM_015158.5:c.747C>A, NM_015158.5:c.747C>T, NM_015158.4:c.747C>A, NM_015158.4:c.747C>T, NM_015158.3:c.747C>A, NM_015158.3:c.747C>T, NM_001256877.3:c.747C>A, NM_001256877.3:c.747C>T, NM_001256877.2:c.747C>A, NM_001256877.2:c.747C>T, NM_001256877.1:c.747C>A, NM_001256877.1:c.747C>T, NM_001256876.3:c.747C>A, NM_001256876.3:c.747C>T, NM_001256876.2:c.747C>A, NM_001256876.2:c.747C>T, NM_001256876.1:c.747C>A, NM_001256876.1:c.747C>T, NM_001354334.2:c.747C>A, NM_001354334.2:c.747C>T, NM_001354334.1:c.747C>A, NM_001354334.1:c.747C>T, NM_001354333.2:c.273C>A, NM_001354333.2:c.273C>T, NM_001354333.1:c.273C>A, NM_001354333.1:c.273C>T, NM_001354341.2:c.273C>A, NM_001354341.2:c.273C>T, NM_001354341.1:c.273C>A, NM_001354341.1:c.273C>T, NR_148869.2:n.909C>A, NR_148869.2:n.909C>T, NR_148869.1:n.1285C>A, NR_148869.1:n.1285C>T, NM_001354335.2:c.273C>A, NM_001354335.2:c.273C>T, NM_001354335.1:c.273C>A, NM_001354335.1:c.273C>T, NM_001354344.2:c.273C>A, NM_001354344.2:c.273C>T, NM_001354344.1:c.273C>A, NM_001354344.1:c.273C>T, NM_001354332.2:c.747C>A, NM_001354332.2:c.747C>T, NM_001354332.1:c.747C>A, NM_001354332.1:c.747C>T, NM_001354337.2:c.273C>A, NM_001354337.2:c.273C>T, NM_001354337.1:c.273C>A, NM_001354337.1:c.273C>T, NM_001354338.2:c.273C>A, NM_001354338.2:c.273C>T, NM_001354338.1:c.273C>A, NM_001354338.1:c.273C>T, NM_001354340.2:c.273C>A, NM_001354340.2:c.273C>T, NM_001354340.1:c.273C>A, NM_001354340.1:c.273C>T, NM_001354343.2:c.273C>A, NM_001354343.2:c.273C>T, NM_001354343.1:c.273C>A, NM_001354343.1:c.273C>T, NM_001354342.2:c.273C>A, NM_001354342.2:c.273C>T, NM_001354342.1:c.273C>A, NM_001354342.1:c.273C>T, NM_001354331.2:c.747C>A, NM_001354331.2:c.747C>T, NM_001354331.1:c.747C>A, NM_001354331.1:c.747C>T, NM_001354339.2:c.273C>A, NM_001354339.2:c.273C>T, NM_001354339.1:c.273C>A, NM_001354339.1:c.273C>T, NM_001354336.2:c.273C>A, NM_001354336.2:c.273C>T, NM_001354336.1:c.273C>A, NM_001354336.1:c.273C>T, XM_024447463.2:c.747C>A, XM_024447463.2:c.747C>T, XM_024447463.1:c.747C>A, XM_024447463.1:c.747C>T, XM_024447466.2:c.747C>A, XM_024447466.2:c.747C>T, XM_024447466.1:c.747C>A, XM_024447466.1:c.747C>T, XM_024447465.2:c.747C>A, XM_024447465.2:c.747C>T, XM_024447465.1:c.747C>A, XM_024447465.1:c.747C>T, XM_024447467.2:c.747C>A, XM_024447467.2:c.747C>T, XM_024447467.1:c.747C>A, XM_024447467.1:c.747C>T, XM_047423041.1:c.747C>A, XM_047423041.1:c.747C>T, XM_047423060.1:c.747C>A, XM_047423060.1:c.747C>T, XM_047423058.1:c.747C>A, XM_047423058.1:c.747C>T, XM_047423049.1:c.747C>A, XM_047423049.1:c.747C>T, XM_047423067.1:c.747C>A, XM_047423067.1:c.747C>T, XM_047423048.1:c.747C>A, XM_047423048.1:c.747C>T, XM_047423073.1:c.747C>A, XM_047423073.1:c.747C>T, XM_047423053.1:c.747C>A, XM_047423053.1:c.747C>T, XM_047423040.1:c.747C>A, XM_047423040.1:c.747C>T, XM_047423059.1:c.747C>A, XM_047423059.1:c.747C>T, XM_047423050.1:c.747C>A, XM_047423050.1:c.747C>T, XM_047423051.1:c.747C>A, XM_047423051.1:c.747C>T, XM_047423066.1:c.747C>A, XM_047423066.1:c.747C>T, XM_047423052.1:c.747C>A, XM_047423052.1:c.747C>T, XM_047423056.1:c.747C>A, XM_047423056.1:c.747C>T, XM_047423043.1:c.747C>A, XM_047423043.1:c.747C>T, XM_047423047.1:c.747C>A, XM_047423047.1:c.747C>T, XM_047423042.1:c.747C>A, XM_047423042.1:c.747C>T, XM_047423055.1:c.747C>A, XM_047423055.1:c.747C>T, XM_047423045.1:c.747C>A, XM_047423045.1:c.747C>T, XM_047423044.1:c.747C>A, XM_047423044.1:c.747C>T, XM_047423046.1:c.747C>A, XM_047423046.1:c.747C>T, XM_047423054.1:c.747C>A, XM_047423054.1:c.747C>T, XM_047423057.1:c.747C>A, XM_047423057.1:c.747C>T, XM_047423064.1:c.747C>A, XM_047423064.1:c.747C>T, XM_047423065.1:c.747C>A, XM_047423065.1:c.747C>T, XM_047423061.1:c.747C>A, XM_047423061.1:c.747C>T, XM_047423062.1:c.747C>A, XM_047423062.1:c.747C>T, XM_047423063.1:c.747C>A, XM_047423063.1:c.747C>T, XM_047423070.1:c.747C>A, XM_047423070.1:c.747C>T, XM_047423068.1:c.747C>A, XM_047423068.1:c.747C>T, XM_047423072.1:c.747C>A, XM_047423072.1:c.747C>T, XM_047423074.1:c.273C>A, XM_047423074.1:c.273C>T, XM_047423069.1:c.747C>A, XM_047423069.1:c.747C>T, XM_047423075.1:c.273C>A, XM_047423075.1:c.273C>T, XM_047423078.1:c.273C>A, XM_047423078.1:c.273C>T, XM_047423071.1:c.747C>A, XM_047423071.1:c.747C>T, XM_047423076.1:c.273C>A, XM_047423076.1:c.273C>T, XM_047423077.1:c.273C>A, XM_047423077.1:c.273C>T, XM_047423079.1:c.273C>A, XM_047423079.1:c.273C>T

                                  17.

                                  rs1480250143 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    9:712564 (GRCh38)
                                    9:712564 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:712563:T:A
                                    Gene:
                                    KANK1 (Varview), LOC107987042 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0./0 (GnomAD)
                                    A=0.000016/4 (GnomAD_exomes)
                                    A=0.000023/6 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.712564T>A, NC_000009.11:g.712564T>A, NG_016331.2:g.247271T>A, NM_153186.6:c.1324T>A, NM_153186.5:c.1324T>A, NM_153186.4:c.1324T>A, NM_015158.5:c.1798T>A, NM_015158.4:c.1798T>A, NM_015158.3:c.1798T>A, NM_001256877.3:c.1798T>A, NM_001256877.2:c.1798T>A, NM_001256877.1:c.1798T>A, NM_001256876.3:c.1798T>A, NM_001256876.2:c.1798T>A, NM_001256876.1:c.1798T>A, NM_001354334.2:c.1798T>A, NM_001354334.1:c.1798T>A, NM_001354333.2:c.1324T>A, NM_001354333.1:c.1324T>A, NM_001354341.2:c.1324T>A, NM_001354341.1:c.1324T>A, NR_148869.2:n.1960T>A, NR_148869.1:n.2336T>A, NM_001354335.2:c.1324T>A, NM_001354335.1:c.1324T>A, NM_001354344.2:c.1324T>A, NM_001354344.1:c.1324T>A, NM_001354332.2:c.1798T>A, NM_001354332.1:c.1798T>A, NM_001354337.2:c.1324T>A, NM_001354337.1:c.1324T>A, NM_001354338.2:c.1324T>A, NM_001354338.1:c.1324T>A, NM_001354340.2:c.1324T>A, NM_001354340.1:c.1324T>A, NM_001354343.2:c.1324T>A, NM_001354343.1:c.1324T>A, NM_001354342.2:c.1324T>A, NM_001354342.1:c.1324T>A, NM_001354331.2:c.1798T>A, NM_001354331.1:c.1798T>A, NM_001354339.2:c.1324T>A, NM_001354339.1:c.1324T>A, NM_001354336.2:c.1324T>A, NM_001354336.1:c.1324T>A, XM_024447463.2:c.1798T>A, XM_024447463.1:c.1798T>A, XM_024447466.2:c.1798T>A, XM_024447466.1:c.1798T>A, XM_024447465.2:c.1798T>A, XM_024447465.1:c.1798T>A, XM_024447467.2:c.1798T>A, XM_024447467.1:c.1798T>A, XM_047423041.1:c.1798T>A, XM_047423060.1:c.1798T>A, XM_047423058.1:c.1798T>A, XM_047423049.1:c.1798T>A, XM_047423067.1:c.1798T>A, XM_047423048.1:c.1798T>A, XM_047423073.1:c.1798T>A, XM_047423053.1:c.1798T>A, XM_047423040.1:c.1798T>A, XM_047423059.1:c.1798T>A, XM_047423050.1:c.1798T>A, XM_047423051.1:c.1798T>A, XM_047423066.1:c.1798T>A, XM_047423052.1:c.1798T>A, XM_047423056.1:c.1798T>A, XM_047423043.1:c.1798T>A, XM_047423047.1:c.1798T>A, XM_047423042.1:c.1798T>A, XM_047423055.1:c.1798T>A, XM_047423045.1:c.1798T>A, XM_047423044.1:c.1798T>A, XM_047423046.1:c.1798T>A, XM_047423054.1:c.1798T>A, XM_047423057.1:c.1798T>A, XM_047423064.1:c.1798T>A, XM_047423065.1:c.1798T>A, XM_047423061.1:c.1798T>A, XM_047423062.1:c.1798T>A, XM_047423063.1:c.1798T>A, XM_047423070.1:c.1798T>A, XM_047423068.1:c.1798T>A, XM_047423072.1:c.1798T>A, XM_047423074.1:c.1324T>A, XM_047423069.1:c.1798T>A, XM_047423075.1:c.1324T>A, XM_047423078.1:c.1324T>A, XM_047423071.1:c.1798T>A, XM_047423076.1:c.1324T>A, XM_047423077.1:c.1324T>A, XM_047423079.1:c.1324T>A, NP_694856.1:p.Cys442Ser, NP_055973.2:p.Cys600Ser, NP_001243806.1:p.Cys600Ser, NP_001243805.1:p.Cys600Ser, NP_001341263.1:p.Cys600Ser, NP_001341262.1:p.Cys442Ser, NP_001341270.1:p.Cys442Ser, NP_001341264.1:p.Cys442Ser, NP_001341273.1:p.Cys442Ser, NP_001341261.1:p.Cys600Ser, NP_001341266.1:p.Cys442Ser, NP_001341267.1:p.Cys442Ser, NP_001341269.1:p.Cys442Ser, NP_001341272.1:p.Cys442Ser, NP_001341271.1:p.Cys442Ser, NP_001341260.1:p.Cys600Ser, NP_001341268.1:p.Cys442Ser, NP_001341265.1:p.Cys442Ser, XP_024303231.1:p.Cys600Ser, XP_024303234.1:p.Cys600Ser, XP_024303233.1:p.Cys600Ser, XP_024303235.1:p.Cys600Ser, XP_047278997.1:p.Cys600Ser, XP_047279016.1:p.Cys600Ser, XP_047279014.1:p.Cys600Ser, XP_047279005.1:p.Cys600Ser, XP_047279023.1:p.Cys600Ser, XP_047279004.1:p.Cys600Ser, XP_047279029.1:p.Cys600Ser, XP_047279009.1:p.Cys600Ser, XP_047278996.1:p.Cys600Ser, XP_047279015.1:p.Cys600Ser, XP_047279006.1:p.Cys600Ser, XP_047279007.1:p.Cys600Ser, XP_047279022.1:p.Cys600Ser, XP_047279008.1:p.Cys600Ser, XP_047279012.1:p.Cys600Ser, XP_047278999.1:p.Cys600Ser, XP_047279003.1:p.Cys600Ser, XP_047278998.1:p.Cys600Ser, XP_047279011.1:p.Cys600Ser, XP_047279001.1:p.Cys600Ser, XP_047279000.1:p.Cys600Ser, XP_047279002.1:p.Cys600Ser, XP_047279010.1:p.Cys600Ser, XP_047279013.1:p.Cys600Ser, XP_047279020.1:p.Cys600Ser, XP_047279021.1:p.Cys600Ser, XP_047279017.1:p.Cys600Ser, XP_047279018.1:p.Cys600Ser, XP_047279019.1:p.Cys600Ser, XP_047279026.1:p.Cys600Ser, XP_047279024.1:p.Cys600Ser, XP_047279028.1:p.Cys600Ser, XP_047279030.1:p.Cys442Ser, XP_047279025.1:p.Cys600Ser, XP_047279031.1:p.Cys442Ser, XP_047279034.1:p.Cys442Ser, XP_047279027.1:p.Cys600Ser, XP_047279032.1:p.Cys442Ser, XP_047279033.1:p.Cys442Ser, XP_047279035.1:p.Cys442Ser

                                    18.

                                    rs1479778420 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:744520 (GRCh38)
                                      9:744520 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:744519:G:A
                                      Gene:
                                      KANK1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.744520G>A, NC_000009.11:g.744520G>A, NG_016331.2:g.279227G>A, NM_153186.6:c.3453G>A, NM_153186.5:c.3453G>A, NM_153186.4:c.3453G>A, NM_015158.5:c.3927G>A, NM_015158.4:c.3927G>A, NM_015158.3:c.3927G>A, NM_001256877.3:c.3927G>A, NM_001256877.2:c.3927G>A, NM_001256877.1:c.3927G>A, NM_001256876.3:c.3927G>A, NM_001256876.2:c.3927G>A, NM_001256876.1:c.3927G>A, NM_001354334.2:c.3927G>A, NM_001354334.1:c.3927G>A, NM_001354333.2:c.3453G>A, NM_001354333.1:c.3453G>A, NM_001354341.2:c.3453G>A, NM_001354341.1:c.3453G>A, NR_148869.2:n.4055G>A, NR_148869.1:n.4431G>A, NM_001354335.2:c.3453G>A, NM_001354335.1:c.3453G>A, NM_001354344.2:c.3399G>A, NM_001354344.1:c.3399G>A, NM_001354332.2:c.3873G>A, NM_001354332.1:c.3873G>A, NM_001354337.2:c.3453G>A, NM_001354337.1:c.3453G>A, NM_001354338.2:c.3399G>A, NM_001354338.1:c.3399G>A, NM_001354340.2:c.3399G>A, NM_001354340.1:c.3399G>A, NM_001354343.2:c.3213G>A, NM_001354343.1:c.3213G>A, NM_001354342.2:c.3213G>A, NM_001354342.1:c.3213G>A, NM_001354331.2:c.3687G>A, NM_001354331.1:c.3687G>A, NM_001354339.2:c.3213G>A, NM_001354339.1:c.3213G>A, NM_001354336.2:c.3159G>A, NM_001354336.1:c.3159G>A, XM_024447463.2:c.3927G>A, XM_024447463.1:c.3927G>A, XM_024447466.2:c.3927G>A, XM_024447466.1:c.3927G>A, XM_024447465.2:c.3927G>A, XM_024447465.1:c.3927G>A, XM_024447467.2:c.3927G>A, XM_024447467.1:c.3927G>A, XM_047423041.1:c.3927G>A, XM_047423060.1:c.3873G>A, XM_047423058.1:c.3873G>A, XM_047423049.1:c.3927G>A, XM_047423067.1:c.3687G>A, XM_047423048.1:c.3927G>A, XM_047423073.1:c.3633G>A, XM_047423053.1:c.3927G>A, XM_047423040.1:c.3927G>A, XM_047423059.1:c.3873G>A, XM_047423050.1:c.3927G>A, XM_047423051.1:c.3927G>A, XM_047423066.1:c.3687G>A, XM_047423052.1:c.3927G>A, XM_047423056.1:c.3927G>A, XM_047423043.1:c.3927G>A, XM_047423047.1:c.3927G>A, XM_047423042.1:c.3927G>A, XM_047423055.1:c.3927G>A, XM_047423045.1:c.3927G>A, XM_047423044.1:c.3927G>A, XM_047423046.1:c.3927G>A, XM_047423054.1:c.3927G>A, XM_047423057.1:c.3927G>A, XM_047423064.1:c.3873G>A, XM_047423065.1:c.3873G>A, XM_047423061.1:c.3873G>A, XM_047423062.1:c.3873G>A, XM_047423063.1:c.3873G>A, XM_047423070.1:c.3687G>A, XM_047423068.1:c.3687G>A, XM_047423072.1:c.3633G>A, XM_047423074.1:c.3453G>A, XM_047423069.1:c.3687G>A, XM_047423075.1:c.3399G>A, XM_047423078.1:c.3159G>A, XM_047423071.1:c.3633G>A, XM_047423076.1:c.3213G>A, XM_047423077.1:c.3159G>A

                                      19.

                                      rs1478136870 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:712326 (GRCh38)
                                        9:712326 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:712325:G:A
                                        Gene:
                                        KANK1 (Varview), LOC107987042 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.712326G>A, NC_000009.11:g.712326G>A, NG_016331.2:g.247033G>A, NM_153186.6:c.1086G>A, NM_153186.5:c.1086G>A, NM_153186.4:c.1086G>A, NM_015158.5:c.1560G>A, NM_015158.4:c.1560G>A, NM_015158.3:c.1560G>A, NM_001256877.3:c.1560G>A, NM_001256877.2:c.1560G>A, NM_001256877.1:c.1560G>A, NM_001256876.3:c.1560G>A, NM_001256876.2:c.1560G>A, NM_001256876.1:c.1560G>A, NM_001354334.2:c.1560G>A, NM_001354334.1:c.1560G>A, NM_001354333.2:c.1086G>A, NM_001354333.1:c.1086G>A, NM_001354341.2:c.1086G>A, NM_001354341.1:c.1086G>A, NR_148869.2:n.1722G>A, NR_148869.1:n.2098G>A, NM_001354335.2:c.1086G>A, NM_001354335.1:c.1086G>A, NM_001354344.2:c.1086G>A, NM_001354344.1:c.1086G>A, NM_001354332.2:c.1560G>A, NM_001354332.1:c.1560G>A, NM_001354337.2:c.1086G>A, NM_001354337.1:c.1086G>A, NM_001354338.2:c.1086G>A, NM_001354338.1:c.1086G>A, NM_001354340.2:c.1086G>A, NM_001354340.1:c.1086G>A, NM_001354343.2:c.1086G>A, NM_001354343.1:c.1086G>A, NM_001354342.2:c.1086G>A, NM_001354342.1:c.1086G>A, NM_001354331.2:c.1560G>A, NM_001354331.1:c.1560G>A, NM_001354339.2:c.1086G>A, NM_001354339.1:c.1086G>A, NM_001354336.2:c.1086G>A, NM_001354336.1:c.1086G>A, XM_024447463.2:c.1560G>A, XM_024447463.1:c.1560G>A, XM_024447466.2:c.1560G>A, XM_024447466.1:c.1560G>A, XM_024447465.2:c.1560G>A, XM_024447465.1:c.1560G>A, XM_024447467.2:c.1560G>A, XM_024447467.1:c.1560G>A, XM_047423041.1:c.1560G>A, XM_047423060.1:c.1560G>A, XM_047423058.1:c.1560G>A, XM_047423049.1:c.1560G>A, XM_047423067.1:c.1560G>A, XM_047423048.1:c.1560G>A, XM_047423073.1:c.1560G>A, XM_047423053.1:c.1560G>A, XM_047423040.1:c.1560G>A, XM_047423059.1:c.1560G>A, XM_047423050.1:c.1560G>A, XM_047423051.1:c.1560G>A, XM_047423066.1:c.1560G>A, XM_047423052.1:c.1560G>A, XM_047423056.1:c.1560G>A, XM_047423043.1:c.1560G>A, XM_047423047.1:c.1560G>A, XM_047423042.1:c.1560G>A, XM_047423055.1:c.1560G>A, XM_047423045.1:c.1560G>A, XM_047423044.1:c.1560G>A, XM_047423046.1:c.1560G>A, XM_047423054.1:c.1560G>A, XM_047423057.1:c.1560G>A, XM_047423064.1:c.1560G>A, XM_047423065.1:c.1560G>A, XM_047423061.1:c.1560G>A, XM_047423062.1:c.1560G>A, XM_047423063.1:c.1560G>A, XM_047423070.1:c.1560G>A, XM_047423068.1:c.1560G>A, XM_047423072.1:c.1560G>A, XM_047423074.1:c.1086G>A, XM_047423069.1:c.1560G>A, XM_047423075.1:c.1086G>A, XM_047423078.1:c.1086G>A, XM_047423071.1:c.1560G>A, XM_047423076.1:c.1086G>A, XM_047423077.1:c.1086G>A, XM_047423079.1:c.1086G>A

                                        20.

                                        rs1477764062 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:712140 (GRCh38)
                                          9:712140 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:712139:A:G
                                          Gene:
                                          KANK1 (Varview), LOC107987042 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000111/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.712140A>G, NC_000009.11:g.712140A>G, NG_016331.2:g.246847A>G, NM_153186.6:c.900A>G, NM_153186.5:c.900A>G, NM_153186.4:c.900A>G, NM_015158.5:c.1374A>G, NM_015158.4:c.1374A>G, NM_015158.3:c.1374A>G, NM_001256877.3:c.1374A>G, NM_001256877.2:c.1374A>G, NM_001256877.1:c.1374A>G, NM_001256876.3:c.1374A>G, NM_001256876.2:c.1374A>G, NM_001256876.1:c.1374A>G, NM_001354334.2:c.1374A>G, NM_001354334.1:c.1374A>G, NM_001354333.2:c.900A>G, NM_001354333.1:c.900A>G, NM_001354341.2:c.900A>G, NM_001354341.1:c.900A>G, NR_148869.2:n.1536A>G, NR_148869.1:n.1912A>G, NM_001354335.2:c.900A>G, NM_001354335.1:c.900A>G, NM_001354344.2:c.900A>G, NM_001354344.1:c.900A>G, NM_001354332.2:c.1374A>G, NM_001354332.1:c.1374A>G, NM_001354337.2:c.900A>G, NM_001354337.1:c.900A>G, NM_001354338.2:c.900A>G, NM_001354338.1:c.900A>G, NM_001354340.2:c.900A>G, NM_001354340.1:c.900A>G, NM_001354343.2:c.900A>G, NM_001354343.1:c.900A>G, NM_001354342.2:c.900A>G, NM_001354342.1:c.900A>G, NM_001354331.2:c.1374A>G, NM_001354331.1:c.1374A>G, NM_001354339.2:c.900A>G, NM_001354339.1:c.900A>G, NM_001354336.2:c.900A>G, NM_001354336.1:c.900A>G, XM_024447463.2:c.1374A>G, XM_024447463.1:c.1374A>G, XM_024447466.2:c.1374A>G, XM_024447466.1:c.1374A>G, XM_024447465.2:c.1374A>G, XM_024447465.1:c.1374A>G, XM_024447467.2:c.1374A>G, XM_024447467.1:c.1374A>G, XM_047423041.1:c.1374A>G, XM_047423060.1:c.1374A>G, XM_047423058.1:c.1374A>G, XM_047423049.1:c.1374A>G, XM_047423067.1:c.1374A>G, XM_047423048.1:c.1374A>G, XM_047423073.1:c.1374A>G, XM_047423053.1:c.1374A>G, XM_047423040.1:c.1374A>G, XM_047423059.1:c.1374A>G, XM_047423050.1:c.1374A>G, XM_047423051.1:c.1374A>G, XM_047423066.1:c.1374A>G, XM_047423052.1:c.1374A>G, XM_047423056.1:c.1374A>G, XM_047423043.1:c.1374A>G, XM_047423047.1:c.1374A>G, XM_047423042.1:c.1374A>G, XM_047423055.1:c.1374A>G, XM_047423045.1:c.1374A>G, XM_047423044.1:c.1374A>G, XM_047423046.1:c.1374A>G, XM_047423054.1:c.1374A>G, XM_047423057.1:c.1374A>G, XM_047423064.1:c.1374A>G, XM_047423065.1:c.1374A>G, XM_047423061.1:c.1374A>G, XM_047423062.1:c.1374A>G, XM_047423063.1:c.1374A>G, XM_047423070.1:c.1374A>G, XM_047423068.1:c.1374A>G, XM_047423072.1:c.1374A>G, XM_047423074.1:c.900A>G, XM_047423069.1:c.1374A>G, XM_047423075.1:c.900A>G, XM_047423078.1:c.900A>G, XM_047423071.1:c.1374A>G, XM_047423076.1:c.900A>G, XM_047423077.1:c.900A>G, XM_047423079.1:c.900A>G

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