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Items: 1 to 20 of 968

1.

rs1490889212 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:31643902 (GRCh38)
    6:31611679 (GRCh37)
    Canonical SPDI:
    NC_000006.12:31643901:G:A
    Gene:
    BAG6 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.31643902G>A, NC_000006.11:g.31611679G>A, NT_113891.3:g.3121191G>A, NT_113891.2:g.3121297G>A, NT_167248.2:g.2899723G>A, NT_167248.1:g.2905319G>A, NT_167245.2:g.2891668G>A, NT_167245.1:g.2897253G>A, NT_167249.2:g.2943186G>A, NT_167249.1:g.2942484G>A, NT_167246.2:g.2948948G>A, NT_167246.1:g.2954568G>A, NT_167247.2:g.2985767G>A, NT_167247.1:g.2991352G>A, NM_004639.3:c.1654C>T, NM_080703.3:c.1636C>T, NM_080703.2:c.1636C>T, NM_080702.3:c.1636C>T, NM_080702.2:c.1636C>T, NM_001098534.2:c.1636C>T, NM_001098534.1:c.1636C>T, XM_017011297.2:c.1687C>T, XM_017011297.1:c.1687C>T, NM_001199698.2:c.1636C>T, NM_001199698.1:c.1636C>T, XM_017011296.2:c.1633C>T, XM_017011296.1:c.1633C>T, NM_001199697.2:c.1633C>T, NM_001199697.1:c.1633C>T, NM_001387992.1:c.1690C>T, NM_001387991.1:c.1690C>T, NM_001387990.1:c.1633C>T, NM_001387983.1:c.1741C>T, NM_001387982.1:c.1582C>T, NM_001387964.1:c.1582C>T, NM_001387963.1:c.1579C>T, NM_001388009.1:c.1663C>T, XM_047419344.1:c.1690C>T, NM_001388008.1:c.1660C>T, XM_047419346.1:c.1687C>T, NM_001387961.1:c.1636C>T, NM_001387958.1:c.1690C>T, NM_001387955.1:c.1633C>T, NM_001387954.1:c.1744C>T, NM_001388004.1:c.1582C>T, NM_001388003.1:c.1558C>T, NM_001388002.1:c.1555C>T, XM_047419349.1:c.1579C>T, NM_001387942.1:c.1579C>T, NM_001388001.1:c.1636C>T, NM_001388014.1:c.1636C>T, NM_001387997.1:c.1582C>T, NM_001388020.1:c.1744C>T, NM_001387993.1:c.1741C>T, NM_001388018.1:c.1636C>T, NM_001388012.1:c.1771C>T, NM_001388017.1:c.1636C>T, NM_001388016.1:c.1741C>T, NM_001387989.1:c.1744C>T, NM_001387986.1:c.1636C>T, NM_001388005.1:c.1741C>T, NM_001388011.1:c.1744C>T, NM_001387956.1:c.1636C>T, NM_001388019.1:c.1741C>T, NM_001387996.1:c.1744C>T, NM_001387995.1:c.1741C>T, NM_001387994.1:c.1744C>T, XM_047419340.1:c.1687C>T, NM_001387988.1:c.1741C>T, NM_001388010.1:c.1741C>T, NM_001387987.1:c.1633C>T, NM_001387985.1:c.1771C>T, NM_001387984.1:c.1744C>T, XM_047419342.1:c.1579C>T, NM_001387965.1:c.1744C>T, XM_047419338.1:c.1690C>T, XM_047419341.1:c.1741C>T, NM_001388007.1:c.1633C>T, NM_001388006.1:c.1744C>T, NM_001387951.1:c.1636C>T, NM_001388015.1:c.1636C>T, NM_001387949.1:c.1633C>T, XM_047419343.1:c.1579C>T, NM_001387946.1:c.1744C>T, NM_001387944.1:c.1582C>T, NM_001387943.1:c.1744C>T, XM_047419345.1:c.1690C>T, XM_047419347.1:c.1687C>T, XM_047419348.1:c.1582C>T, NM_001387940.1:c.1636C>T, NM_001388000.1:c.1633C>T, NM_001387999.1:c.1636C>T, NM_001387998.1:c.1633C>T, NM_001388013.1:c.1579C>T, XM_047419339.1:c.1687C>T, NP_542434.1:p.Pro546Ser, NP_542433.1:p.Pro546Ser, NP_001092004.1:p.Pro546Ser, XP_016866786.1:p.Pro563Ser, NP_001186627.1:p.Pro546Ser, XP_016866785.1:p.Pro545Ser, NP_001186626.1:p.Pro545Ser, NP_001374921.1:p.Pro564Ser, NP_001374920.1:p.Pro564Ser, NP_001374919.1:p.Pro545Ser, NP_001374912.1:p.Pro581Ser, NP_001374911.1:p.Pro528Ser, NP_001374893.1:p.Pro528Ser, NP_001374892.1:p.Pro527Ser, NP_001374938.1:p.Pro555Ser, XP_047275300.1:p.Pro564Ser, NP_001374937.1:p.Pro554Ser, XP_047275302.1:p.Pro563Ser, NP_001374890.1:p.Pro546Ser, NP_001374887.1:p.Pro564Ser, NP_001374884.1:p.Pro545Ser, NP_001374883.1:p.Pro582Ser, NP_001374933.1:p.Pro528Ser, NP_001374932.1:p.Pro520Ser, NP_001374931.1:p.Pro519Ser, XP_047275305.1:p.Pro527Ser, NP_001374871.1:p.Pro527Ser, NP_001374930.1:p.Pro546Ser, NP_001374943.1:p.Pro546Ser, NP_001374926.1:p.Pro528Ser, NP_001374949.1:p.Pro582Ser, NP_001374922.1:p.Pro581Ser, NP_001374947.1:p.Pro546Ser, NP_001374941.1:p.Pro591Ser, NP_001374946.1:p.Pro546Ser, NP_001374945.1:p.Pro581Ser, NP_001374918.1:p.Pro582Ser, NP_001374915.1:p.Pro546Ser, NP_001374934.1:p.Pro581Ser, NP_001374940.1:p.Pro582Ser, NP_001374885.1:p.Pro546Ser, NP_001374948.1:p.Pro581Ser, NP_001374925.1:p.Pro582Ser, NP_001374924.1:p.Pro581Ser, NP_001374923.1:p.Pro582Ser, XP_047275296.1:p.Pro563Ser, NP_001374917.1:p.Pro581Ser, NP_001374939.1:p.Pro581Ser, NP_001374916.1:p.Pro545Ser, NP_001374914.1:p.Pro591Ser, NP_001374913.1:p.Pro582Ser, XP_047275298.1:p.Pro527Ser, NP_001374894.1:p.Pro582Ser, XP_047275294.1:p.Pro564Ser, XP_047275297.1:p.Pro581Ser, NP_001374936.1:p.Pro545Ser, NP_001374935.1:p.Pro582Ser, NP_001374880.1:p.Pro546Ser, NP_001374944.1:p.Pro546Ser, NP_001374878.1:p.Pro545Ser, XP_047275299.1:p.Pro527Ser, NP_001374875.1:p.Pro582Ser, NP_001374873.1:p.Pro528Ser, NP_001374872.1:p.Pro582Ser, XP_047275301.1:p.Pro564Ser, XP_047275303.1:p.Pro563Ser, XP_047275304.1:p.Pro528Ser, NP_001374869.1:p.Pro546Ser, NP_001374929.1:p.Pro545Ser, NP_001374928.1:p.Pro546Ser, NP_001374927.1:p.Pro545Ser, NP_001374942.1:p.Pro527Ser, XP_047275295.1:p.Pro563Ser

    2.

    rs1489043715 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      6:31645122 (GRCh38)
      6:31612899 (GRCh37)
      Canonical SPDI:
      NC_000006.12:31645121:G:A
      Gene:
      BAG6 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000031/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000011/3 (TOPMED)
      HGVS:
      NC_000006.12:g.31645122G>A, NC_000006.11:g.31612899G>A, NT_113891.3:g.3122411G>A, NT_113891.2:g.3122517G>A, NT_167248.2:g.2900943G>A, NT_167248.1:g.2906539G>A, NT_167245.2:g.2892888G>A, NT_167245.1:g.2898473G>A, NT_167249.2:g.2944406G>A, NT_167249.1:g.2943704G>A, NT_167246.2:g.2950168G>A, NT_167246.1:g.2955788G>A, NT_167247.2:g.2986987G>A, NT_167247.1:g.2992572G>A, NM_004639.3:c.1211C>T, NM_080703.3:c.1193C>T, NM_080703.2:c.1193C>T, NM_080702.3:c.1193C>T, NM_080702.2:c.1193C>T, NM_001098534.2:c.1193C>T, NM_001098534.1:c.1193C>T, XM_017011297.2:c.1139C>T, XM_017011297.1:c.1139C>T, NM_001199698.2:c.1193C>T, NM_001199698.1:c.1193C>T, XM_017011296.2:c.1193C>T, XM_017011296.1:c.1193C>T, NM_001199697.2:c.1193C>T, NM_001199697.1:c.1193C>T, NM_001387954.1:c.1193C>T, NM_001388019.1:c.1193C>T, NM_001387996.1:c.1193C>T, NM_001387995.1:c.1193C>T, NM_001387994.1:c.1193C>T, NM_001387993.1:c.1193C>T, NM_001387992.1:c.1139C>T, NM_001387991.1:c.1139C>T, NM_001387990.1:c.1193C>T, NM_001387988.1:c.1193C>T, NM_001388011.1:c.1193C>T, NM_001388010.1:c.1193C>T, NM_001387987.1:c.1193C>T, NM_001387986.1:c.1193C>T, NM_001387985.1:c.1193C>T, NM_001387984.1:c.1193C>T, NM_001387983.1:c.1193C>T, NM_001387982.1:c.1139C>T, XM_047419342.1:c.1139C>T, NM_001387965.1:c.1193C>T, XM_047419338.1:c.1139C>T, XM_047419341.1:c.1193C>T, NM_001387964.1:c.1139C>T, NM_001387963.1:c.1139C>T, NM_001388009.1:c.1193C>T, XM_047419344.1:c.1139C>T, NM_001387958.1:c.1139C>T, NM_001388007.1:c.1193C>T, NM_001388005.1:c.1193C>T, NM_001387951.1:c.1193C>T, NM_001388015.1:c.1193C>T, NM_001387949.1:c.1193C>T, NM_001388004.1:c.1139C>T, XM_047419343.1:c.1139C>T, NM_001387946.1:c.1193C>T, NM_001388003.1:c.1193C>T, NM_001388002.1:c.1193C>T, NM_001387943.1:c.1193C>T, XM_047419347.1:c.1139C>T, XM_047419348.1:c.1139C>T, NM_001387942.1:c.1139C>T, NM_001388001.1:c.1193C>T, NM_001387940.1:c.1193C>T, NM_001388000.1:c.1193C>T, NM_001387999.1:c.1193C>T, NM_001387997.1:c.1139C>T, NM_001388013.1:c.1139C>T, NM_001388020.1:c.1193C>T, NM_001388018.1:c.1193C>T, NM_001388012.1:c.1193C>T, NM_001388017.1:c.1193C>T, NM_001387989.1:c.1193C>T, NM_001388008.1:c.1193C>T, NM_001387961.1:c.1193C>T, NM_001387956.1:c.1193C>T, NM_001388006.1:c.1193C>T, NM_001387944.1:c.1139C>T, NM_001388014.1:c.1193C>T, XM_047419340.1:c.1139C>T, NM_001388016.1:c.1193C>T, XM_047419346.1:c.1139C>T, NM_001387955.1:c.1193C>T, XM_047419349.1:c.1139C>T, NM_001387998.1:c.1193C>T, XM_047419345.1:c.1139C>T, XM_047419339.1:c.1139C>T, NP_542434.1:p.Pro398Leu, NP_542433.1:p.Pro398Leu, NP_001092004.1:p.Pro398Leu, XP_016866786.1:p.Pro380Leu, NP_001186627.1:p.Pro398Leu, XP_016866785.1:p.Pro398Leu, NP_001186626.1:p.Pro398Leu, NP_001374883.1:p.Pro398Leu, NP_001374948.1:p.Pro398Leu, NP_001374925.1:p.Pro398Leu, NP_001374924.1:p.Pro398Leu, NP_001374923.1:p.Pro398Leu, NP_001374922.1:p.Pro398Leu, NP_001374921.1:p.Pro380Leu, NP_001374920.1:p.Pro380Leu, NP_001374919.1:p.Pro398Leu, NP_001374917.1:p.Pro398Leu, NP_001374940.1:p.Pro398Leu, NP_001374939.1:p.Pro398Leu, NP_001374916.1:p.Pro398Leu, NP_001374915.1:p.Pro398Leu, NP_001374914.1:p.Pro398Leu, NP_001374913.1:p.Pro398Leu, NP_001374912.1:p.Pro398Leu, NP_001374911.1:p.Pro380Leu, XP_047275298.1:p.Pro380Leu, NP_001374894.1:p.Pro398Leu, XP_047275294.1:p.Pro380Leu, XP_047275297.1:p.Pro398Leu, NP_001374893.1:p.Pro380Leu, NP_001374892.1:p.Pro380Leu, NP_001374938.1:p.Pro398Leu, XP_047275300.1:p.Pro380Leu, NP_001374887.1:p.Pro380Leu, NP_001374936.1:p.Pro398Leu, NP_001374934.1:p.Pro398Leu, NP_001374880.1:p.Pro398Leu, NP_001374944.1:p.Pro398Leu, NP_001374878.1:p.Pro398Leu, NP_001374933.1:p.Pro380Leu, XP_047275299.1:p.Pro380Leu, NP_001374875.1:p.Pro398Leu, NP_001374932.1:p.Pro398Leu, NP_001374931.1:p.Pro398Leu, NP_001374872.1:p.Pro398Leu, XP_047275303.1:p.Pro380Leu, XP_047275304.1:p.Pro380Leu, NP_001374871.1:p.Pro380Leu, NP_001374930.1:p.Pro398Leu, NP_001374869.1:p.Pro398Leu, NP_001374929.1:p.Pro398Leu, NP_001374928.1:p.Pro398Leu, NP_001374926.1:p.Pro380Leu, NP_001374942.1:p.Pro380Leu, NP_001374949.1:p.Pro398Leu, NP_001374947.1:p.Pro398Leu, NP_001374941.1:p.Pro398Leu, NP_001374946.1:p.Pro398Leu, NP_001374918.1:p.Pro398Leu, NP_001374937.1:p.Pro398Leu, NP_001374890.1:p.Pro398Leu, NP_001374885.1:p.Pro398Leu, NP_001374935.1:p.Pro398Leu, NP_001374873.1:p.Pro380Leu, NP_001374943.1:p.Pro398Leu, XP_047275296.1:p.Pro380Leu, NP_001374945.1:p.Pro398Leu, XP_047275302.1:p.Pro380Leu, NP_001374884.1:p.Pro398Leu, XP_047275305.1:p.Pro380Leu, NP_001374927.1:p.Pro398Leu, XP_047275301.1:p.Pro380Leu, XP_047275295.1:p.Pro380Leu

      3.

      rs1488711456 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        6:31644560 (GRCh38)
        6:31612337 (GRCh37)
        Canonical SPDI:
        NC_000006.12:31644559:C:A
        Gene:
        BAG6 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.31644560C>A, NC_000006.11:g.31612337C>A, NT_113891.3:g.3121849C>A, NT_113891.2:g.3121955C>A, NT_167248.2:g.2900381C>A, NT_167248.1:g.2905977C>A, NT_167245.2:g.2892326C>A, NT_167245.1:g.2897911C>A, NT_167249.2:g.2943844C>A, NT_167249.1:g.2943142C>A, NT_167246.2:g.2949606C>A, NT_167246.1:g.2955226C>A, NT_167247.2:g.2986425C>A, NT_167247.1:g.2992010C>A, NM_004639.3:c.1430G>T, NM_080703.3:c.1412G>T, NM_080703.2:c.1412G>T, NM_080702.3:c.1412G>T, NM_080702.2:c.1412G>T, NM_001098534.2:c.1412G>T, NM_001098534.1:c.1412G>T, XM_017011297.2:c.1358G>T, XM_017011297.1:c.1358G>T, NM_001199698.2:c.1412G>T, NM_001199698.1:c.1412G>T, XM_017011296.2:c.1412G>T, XM_017011296.1:c.1412G>T, NM_001199697.2:c.1412G>T, NM_001199697.1:c.1412G>T, NM_001387992.1:c.1358G>T, NM_001387991.1:c.1358G>T, NM_001387990.1:c.1412G>T, NM_001387983.1:c.1412G>T, NM_001387982.1:c.1358G>T, NM_001387964.1:c.1358G>T, NM_001387963.1:c.1358G>T, NM_001388009.1:c.1439G>T, XM_047419344.1:c.1358G>T, NM_001387958.1:c.1358G>T, NM_001387954.1:c.1412G>T, NM_001388004.1:c.1358G>T, NM_001387942.1:c.1358G>T, NM_001388001.1:c.1412G>T, NM_001387997.1:c.1358G>T, NM_001387993.1:c.1412G>T, NM_001388018.1:c.1412G>T, NM_001388012.1:c.1439G>T, NM_001387989.1:c.1412G>T, NM_001388008.1:c.1439G>T, NM_001388011.1:c.1412G>T, NM_001387956.1:c.1412G>T, NM_001388005.1:c.1412G>T, NM_001388019.1:c.1412G>T, NM_001387996.1:c.1412G>T, NM_001387995.1:c.1412G>T, NM_001387994.1:c.1412G>T, XM_047419340.1:c.1358G>T, NM_001388017.1:c.1412G>T, NM_001388016.1:c.1412G>T, NM_001387988.1:c.1412G>T, NM_001388010.1:c.1412G>T, NM_001387987.1:c.1412G>T, NM_001387986.1:c.1412G>T, NM_001387985.1:c.1439G>T, NM_001387984.1:c.1412G>T, XM_047419342.1:c.1358G>T, NM_001387965.1:c.1412G>T, XM_047419338.1:c.1358G>T, XM_047419341.1:c.1412G>T, XM_047419346.1:c.1358G>T, NM_001387961.1:c.1412G>T, NM_001388007.1:c.1412G>T, NM_001387955.1:c.1412G>T, NM_001388006.1:c.1412G>T, NM_001387951.1:c.1412G>T, NM_001388015.1:c.1412G>T, NM_001387949.1:c.1412G>T, XM_047419343.1:c.1358G>T, NM_001387946.1:c.1412G>T, XM_047419349.1:c.1358G>T, NM_001387943.1:c.1412G>T, XM_047419345.1:c.1358G>T, XM_047419347.1:c.1358G>T, XM_047419348.1:c.1358G>T, NM_001387940.1:c.1412G>T, NM_001388000.1:c.1412G>T, NM_001387999.1:c.1412G>T, NM_001387998.1:c.1412G>T, NM_001388014.1:c.1412G>T, NM_001388013.1:c.1358G>T, NM_001388020.1:c.1412G>T, NM_001387944.1:c.1358G>T, XM_047419339.1:c.1358G>T, NP_542434.1:p.Gly471Val, NP_542433.1:p.Gly471Val, NP_001092004.1:p.Gly471Val, XP_016866786.1:p.Gly453Val, NP_001186627.1:p.Gly471Val, XP_016866785.1:p.Gly471Val, NP_001186626.1:p.Gly471Val, NP_001374921.1:p.Gly453Val, NP_001374920.1:p.Gly453Val, NP_001374919.1:p.Gly471Val, NP_001374912.1:p.Gly471Val, NP_001374911.1:p.Gly453Val, NP_001374893.1:p.Gly453Val, NP_001374892.1:p.Gly453Val, NP_001374938.1:p.Gly480Val, XP_047275300.1:p.Gly453Val, NP_001374887.1:p.Gly453Val, NP_001374883.1:p.Gly471Val, NP_001374933.1:p.Gly453Val, NP_001374871.1:p.Gly453Val, NP_001374930.1:p.Gly471Val, NP_001374926.1:p.Gly453Val, NP_001374922.1:p.Gly471Val, NP_001374947.1:p.Gly471Val, NP_001374941.1:p.Gly480Val, NP_001374918.1:p.Gly471Val, NP_001374937.1:p.Gly480Val, NP_001374940.1:p.Gly471Val, NP_001374885.1:p.Gly471Val, NP_001374934.1:p.Gly471Val, NP_001374948.1:p.Gly471Val, NP_001374925.1:p.Gly471Val, NP_001374924.1:p.Gly471Val, NP_001374923.1:p.Gly471Val, XP_047275296.1:p.Gly453Val, NP_001374946.1:p.Gly471Val, NP_001374945.1:p.Gly471Val, NP_001374917.1:p.Gly471Val, NP_001374939.1:p.Gly471Val, NP_001374916.1:p.Gly471Val, NP_001374915.1:p.Gly471Val, NP_001374914.1:p.Gly480Val, NP_001374913.1:p.Gly471Val, XP_047275298.1:p.Gly453Val, NP_001374894.1:p.Gly471Val, XP_047275294.1:p.Gly453Val, XP_047275297.1:p.Gly471Val, XP_047275302.1:p.Gly453Val, NP_001374890.1:p.Gly471Val, NP_001374936.1:p.Gly471Val, NP_001374884.1:p.Gly471Val, NP_001374935.1:p.Gly471Val, NP_001374880.1:p.Gly471Val, NP_001374944.1:p.Gly471Val, NP_001374878.1:p.Gly471Val, XP_047275299.1:p.Gly453Val, NP_001374875.1:p.Gly471Val, XP_047275305.1:p.Gly453Val, NP_001374872.1:p.Gly471Val, XP_047275301.1:p.Gly453Val, XP_047275303.1:p.Gly453Val, XP_047275304.1:p.Gly453Val, NP_001374869.1:p.Gly471Val, NP_001374929.1:p.Gly471Val, NP_001374928.1:p.Gly471Val, NP_001374927.1:p.Gly471Val, NP_001374943.1:p.Gly471Val, NP_001374942.1:p.Gly453Val, NP_001374949.1:p.Gly471Val, NP_001374873.1:p.Gly453Val, XP_047275295.1:p.Gly453Val

        4.

        rs1488475879 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:31647772 (GRCh38)
          6:31615549 (GRCh37)
          Canonical SPDI:
          NC_000006.12:31647771:C:T
          Gene:
          BAG6 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          HGVS:
          NC_000006.12:g.31647772C>T, NC_000006.11:g.31615549C>T, NT_113891.3:g.3125061C>T, NT_113891.2:g.3125167C>T, NT_167248.2:g.2903592C>T, NT_167248.1:g.2909188C>T, NT_167245.2:g.2895539C>T, NT_167245.1:g.2901124C>T, NT_167249.2:g.2947055C>T, NT_167249.1:g.2946353C>T, NT_167246.2:g.2952818C>T, NT_167246.1:g.2958438C>T, NT_167247.2:g.2989638C>T, NT_167247.1:g.2995223C>T, NM_004639.3:c.625G>A, NM_080703.3:c.607G>A, NM_080703.2:c.607G>A, NM_080702.3:c.607G>A, NM_080702.2:c.607G>A, NM_001098534.2:c.607G>A, NM_001098534.1:c.607G>A, XM_017011297.2:c.553G>A, XM_017011297.1:c.553G>A, NM_001199698.2:c.607G>A, NM_001199698.1:c.607G>A, XM_017011296.2:c.607G>A, XM_017011296.1:c.607G>A, NM_001199697.2:c.607G>A, NM_001199697.1:c.607G>A, NM_001387992.1:c.553G>A, NM_001387991.1:c.553G>A, NM_001387990.1:c.607G>A, NM_001387983.1:c.607G>A, NM_001387982.1:c.553G>A, XM_047419342.1:c.553G>A, NM_001387965.1:c.607G>A, XM_047419338.1:c.553G>A, XM_047419341.1:c.607G>A, NM_001387964.1:c.553G>A, NM_001387963.1:c.553G>A, NM_001388009.1:c.607G>A, XM_047419344.1:c.553G>A, NM_001388008.1:c.607G>A, XM_047419346.1:c.553G>A, NM_001387961.1:c.607G>A, NM_001387958.1:c.553G>A, NM_001387954.1:c.607G>A, NM_001388004.1:c.553G>A, XM_047419343.1:c.553G>A, NM_001387946.1:c.607G>A, NM_001388003.1:c.607G>A, NM_001388002.1:c.607G>A, XM_047419349.1:c.553G>A, NM_001387942.1:c.553G>A, NM_001388001.1:c.607G>A, NM_001387940.1:c.607G>A, NM_001388014.1:c.607G>A, NM_001387997.1:c.553G>A, NM_001388020.1:c.607G>A, NM_001388019.1:c.607G>A, NM_001387995.1:c.607G>A, NM_001387993.1:c.607G>A, NM_001388018.1:c.607G>A, NM_001388012.1:c.607G>A, NM_001388017.1:c.607G>A, NM_001388016.1:c.607G>A, NM_001387989.1:c.607G>A, NM_001388011.1:c.607G>A, NM_001388010.1:c.607G>A, NM_001387986.1:c.607G>A, NM_001387956.1:c.607G>A, NM_001388005.1:c.607G>A, NM_001388015.1:c.607G>A, NM_001388000.1:c.607G>A, NM_001387996.1:c.607G>A, NM_001387994.1:c.607G>A, XM_047419340.1:c.553G>A, XM_047419339.1:c.553G>A, NM_001387988.1:c.607G>A, NM_001387987.1:c.607G>A, NM_001387985.1:c.607G>A, NM_001387984.1:c.607G>A, NM_001388007.1:c.607G>A, NM_001387955.1:c.607G>A, NM_001388006.1:c.607G>A, NM_001387951.1:c.607G>A, NM_001387949.1:c.607G>A, NM_001387943.1:c.607G>A, XM_047419345.1:c.553G>A, XM_047419348.1:c.553G>A, NM_001387999.1:c.607G>A, NM_001387998.1:c.607G>A, NM_001388013.1:c.553G>A, NM_001387944.1:c.553G>A, XM_047419347.1:c.553G>A, NP_542434.1:p.Val203Met, NP_542433.1:p.Val203Met, NP_001092004.1:p.Val203Met, XP_016866786.1:p.Val185Met, NP_001186627.1:p.Val203Met, XP_016866785.1:p.Val203Met, NP_001186626.1:p.Val203Met, NP_001374921.1:p.Val185Met, NP_001374920.1:p.Val185Met, NP_001374919.1:p.Val203Met, NP_001374912.1:p.Val203Met, NP_001374911.1:p.Val185Met, XP_047275298.1:p.Val185Met, NP_001374894.1:p.Val203Met, XP_047275294.1:p.Val185Met, XP_047275297.1:p.Val203Met, NP_001374893.1:p.Val185Met, NP_001374892.1:p.Val185Met, NP_001374938.1:p.Val203Met, XP_047275300.1:p.Val185Met, NP_001374937.1:p.Val203Met, XP_047275302.1:p.Val185Met, NP_001374890.1:p.Val203Met, NP_001374887.1:p.Val185Met, NP_001374883.1:p.Val203Met, NP_001374933.1:p.Val185Met, XP_047275299.1:p.Val185Met, NP_001374875.1:p.Val203Met, NP_001374932.1:p.Val203Met, NP_001374931.1:p.Val203Met, XP_047275305.1:p.Val185Met, NP_001374871.1:p.Val185Met, NP_001374930.1:p.Val203Met, NP_001374869.1:p.Val203Met, NP_001374943.1:p.Val203Met, NP_001374926.1:p.Val185Met, NP_001374949.1:p.Val203Met, NP_001374948.1:p.Val203Met, NP_001374924.1:p.Val203Met, NP_001374922.1:p.Val203Met, NP_001374947.1:p.Val203Met, NP_001374941.1:p.Val203Met, NP_001374946.1:p.Val203Met, NP_001374945.1:p.Val203Met, NP_001374918.1:p.Val203Met, NP_001374940.1:p.Val203Met, NP_001374939.1:p.Val203Met, NP_001374915.1:p.Val203Met, NP_001374885.1:p.Val203Met, NP_001374934.1:p.Val203Met, NP_001374944.1:p.Val203Met, NP_001374929.1:p.Val203Met, NP_001374925.1:p.Val203Met, NP_001374923.1:p.Val203Met, XP_047275296.1:p.Val185Met, XP_047275295.1:p.Val185Met, NP_001374917.1:p.Val203Met, NP_001374916.1:p.Val203Met, NP_001374914.1:p.Val203Met, NP_001374913.1:p.Val203Met, NP_001374936.1:p.Val203Met, NP_001374884.1:p.Val203Met, NP_001374935.1:p.Val203Met, NP_001374880.1:p.Val203Met, NP_001374878.1:p.Val203Met, NP_001374872.1:p.Val203Met, XP_047275301.1:p.Val185Met, XP_047275304.1:p.Val185Met, NP_001374928.1:p.Val203Met, NP_001374927.1:p.Val203Met, NP_001374942.1:p.Val185Met, NP_001374873.1:p.Val185Met, XP_047275303.1:p.Val185Met

          5.

          rs1486866570 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:31649335 (GRCh38)
            6:31617112 (GRCh37)
            Canonical SPDI:
            NC_000006.12:31649334:G:A
            Gene:
            BAG6 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.31649335G>A, NC_000006.11:g.31617112G>A, NT_113891.3:g.3126625G>A, NT_113891.2:g.3126731G>A, NT_167248.2:g.2905156G>A, NT_167248.1:g.2910752G>A, NT_167245.2:g.2897102G>A, NT_167245.1:g.2902687G>A, NT_167249.2:g.2948619G>A, NT_167249.1:g.2947917G>A, NT_167246.2:g.2954381G>A, NT_167246.1:g.2960001G>A, NT_167247.2:g.2991201G>A, NT_167247.1:g.2996786G>A, NM_004639.3:c.287C>T, NM_080703.3:c.287C>T, NM_080703.2:c.287C>T, NM_080702.3:c.287C>T, NM_080702.2:c.287C>T, NM_001098534.2:c.287C>T, NM_001098534.1:c.287C>T, XM_017011297.2:c.287C>T, XM_017011297.1:c.287C>T, NM_001199698.2:c.287C>T, NM_001199698.1:c.287C>T, XM_017011296.2:c.287C>T, XM_017011296.1:c.287C>T, NM_001199697.2:c.287C>T, NM_001199697.1:c.287C>T, NM_001388019.1:c.287C>T, NM_001387996.1:c.287C>T, NM_001387995.1:c.287C>T, NM_001387994.1:c.287C>T, NM_001387993.1:c.287C>T, NM_001387992.1:c.287C>T, XM_047419340.1:c.287C>T, NM_001388018.1:c.287C>T, NM_001387991.1:c.287C>T, NM_001388016.1:c.287C>T, NM_001387990.1:c.287C>T, NM_001387988.1:c.287C>T, NM_001388011.1:c.287C>T, NM_001388010.1:c.287C>T, NM_001387987.1:c.287C>T, NM_001387986.1:c.287C>T, NM_001387985.1:c.287C>T, NM_001387984.1:c.287C>T, NM_001387983.1:c.287C>T, NM_001387982.1:c.287C>T, NM_001387964.1:c.287C>T, NM_001387963.1:c.287C>T, NM_001388009.1:c.287C>T, XM_047419344.1:c.287C>T, NM_001387958.1:c.287C>T, NM_001388007.1:c.287C>T, NM_001387956.1:c.287C>T, NM_001387954.1:c.287C>T, NM_001388006.1:c.287C>T, NM_001388005.1:c.287C>T, NM_001387951.1:c.287C>T, NM_001388015.1:c.287C>T, NM_001387949.1:c.287C>T, NM_001388004.1:c.287C>T, NM_001388003.1:c.287C>T, NM_001388002.1:c.287C>T, NM_001387943.1:c.287C>T, XM_047419345.1:c.287C>T, XM_047419347.1:c.287C>T, XM_047419348.1:c.287C>T, NM_001387942.1:c.287C>T, NM_001388001.1:c.287C>T, NM_001388000.1:c.287C>T, NM_001387999.1:c.287C>T, NM_001387998.1:c.287C>T, NM_001387997.1:c.287C>T, NM_001388013.1:c.287C>T, NM_001387989.1:c.287C>T, NM_001388012.1:c.287C>T, NM_001387965.1:c.287C>T, NM_001388008.1:c.287C>T, NM_001387961.1:c.287C>T, NM_001387955.1:c.287C>T, NM_001387946.1:c.287C>T, NM_001387944.1:c.287C>T, NM_001387940.1:c.287C>T, NM_001388014.1:c.287C>T, XM_047419346.1:c.287C>T, XM_047419349.1:c.287C>T, NM_001388020.1:c.287C>T, NM_001388017.1:c.287C>T, XM_047419342.1:c.287C>T, XM_047419338.1:c.287C>T, XM_047419341.1:c.287C>T, XM_047419343.1:c.287C>T, XM_047419339.1:c.287C>T, NP_542434.1:p.Ser96Phe, NP_542433.1:p.Ser96Phe, NP_001092004.1:p.Ser96Phe, XP_016866786.1:p.Ser96Phe, NP_001186627.1:p.Ser96Phe, XP_016866785.1:p.Ser96Phe, NP_001186626.1:p.Ser96Phe, NP_001374948.1:p.Ser96Phe, NP_001374925.1:p.Ser96Phe, NP_001374924.1:p.Ser96Phe, NP_001374923.1:p.Ser96Phe, NP_001374922.1:p.Ser96Phe, NP_001374921.1:p.Ser96Phe, XP_047275296.1:p.Ser96Phe, NP_001374947.1:p.Ser96Phe, NP_001374920.1:p.Ser96Phe, NP_001374945.1:p.Ser96Phe, NP_001374919.1:p.Ser96Phe, NP_001374917.1:p.Ser96Phe, NP_001374940.1:p.Ser96Phe, NP_001374939.1:p.Ser96Phe, NP_001374916.1:p.Ser96Phe, NP_001374915.1:p.Ser96Phe, NP_001374914.1:p.Ser96Phe, NP_001374913.1:p.Ser96Phe, NP_001374912.1:p.Ser96Phe, NP_001374911.1:p.Ser96Phe, NP_001374893.1:p.Ser96Phe, NP_001374892.1:p.Ser96Phe, NP_001374938.1:p.Ser96Phe, XP_047275300.1:p.Ser96Phe, NP_001374887.1:p.Ser96Phe, NP_001374936.1:p.Ser96Phe, NP_001374885.1:p.Ser96Phe, NP_001374883.1:p.Ser96Phe, NP_001374935.1:p.Ser96Phe, NP_001374934.1:p.Ser96Phe, NP_001374880.1:p.Ser96Phe, NP_001374944.1:p.Ser96Phe, NP_001374878.1:p.Ser96Phe, NP_001374933.1:p.Ser96Phe, NP_001374932.1:p.Ser96Phe, NP_001374931.1:p.Ser96Phe, NP_001374872.1:p.Ser96Phe, XP_047275301.1:p.Ser96Phe, XP_047275303.1:p.Ser96Phe, XP_047275304.1:p.Ser96Phe, NP_001374871.1:p.Ser96Phe, NP_001374930.1:p.Ser96Phe, NP_001374929.1:p.Ser96Phe, NP_001374928.1:p.Ser96Phe, NP_001374927.1:p.Ser96Phe, NP_001374926.1:p.Ser96Phe, NP_001374942.1:p.Ser96Phe, NP_001374918.1:p.Ser96Phe, NP_001374941.1:p.Ser96Phe, NP_001374894.1:p.Ser96Phe, NP_001374937.1:p.Ser96Phe, NP_001374890.1:p.Ser96Phe, NP_001374884.1:p.Ser96Phe, NP_001374875.1:p.Ser96Phe, NP_001374873.1:p.Ser96Phe, NP_001374869.1:p.Ser96Phe, NP_001374943.1:p.Ser96Phe, XP_047275302.1:p.Ser96Phe, XP_047275305.1:p.Ser96Phe, NP_001374949.1:p.Ser96Phe, NP_001374946.1:p.Ser96Phe, XP_047275298.1:p.Ser96Phe, XP_047275294.1:p.Ser96Phe, XP_047275297.1:p.Ser96Phe, XP_047275299.1:p.Ser96Phe, XP_047275295.1:p.Ser96Phe

            6.

            rs1485771502 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:31647616 (GRCh38)
              6:31615393 (GRCh37)
              Canonical SPDI:
              NC_000006.12:31647615:G:A
              Gene:
              BAG6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.31647616G>A, NC_000006.11:g.31615393G>A, NT_113891.3:g.3124905G>A, NT_113891.2:g.3125011G>A, NT_167248.2:g.2903436G>A, NT_167248.1:g.2909032G>A, NT_167245.2:g.2895383G>A, NT_167245.1:g.2900968G>A, NT_167249.2:g.2946899G>A, NT_167249.1:g.2946197G>A, NT_167246.2:g.2952662G>A, NT_167246.1:g.2958282G>A, NT_167247.2:g.2989482G>A, NT_167247.1:g.2995067G>A, NM_004639.3:c.781C>T, NM_080703.3:c.763C>T, NM_080703.2:c.763C>T, NM_080702.3:c.763C>T, NM_080702.2:c.763C>T, NM_001098534.2:c.763C>T, NM_001098534.1:c.763C>T, XM_017011297.2:c.709C>T, XM_017011297.1:c.709C>T, NM_001199698.2:c.763C>T, NM_001199698.1:c.763C>T, XM_017011296.2:c.763C>T, XM_017011296.1:c.763C>T, NM_001199697.2:c.763C>T, NM_001199697.1:c.763C>T, NM_001387992.1:c.709C>T, NM_001387991.1:c.709C>T, NM_001387990.1:c.763C>T, NM_001387983.1:c.763C>T, NM_001387982.1:c.709C>T, NM_001387964.1:c.709C>T, NM_001387963.1:c.709C>T, NM_001388009.1:c.763C>T, XM_047419344.1:c.709C>T, NM_001388008.1:c.763C>T, XM_047419346.1:c.709C>T, NM_001387961.1:c.763C>T, NM_001387958.1:c.709C>T, NM_001387955.1:c.763C>T, NM_001387954.1:c.763C>T, NM_001388004.1:c.709C>T, NM_001388003.1:c.763C>T, NM_001388002.1:c.763C>T, XM_047419349.1:c.709C>T, NM_001387942.1:c.709C>T, NM_001388001.1:c.763C>T, NM_001388014.1:c.763C>T, NM_001387997.1:c.709C>T, NM_001388020.1:c.763C>T, NM_001387993.1:c.763C>T, NM_001388018.1:c.763C>T, NM_001388012.1:c.763C>T, NM_001388017.1:c.763C>T, NM_001388016.1:c.763C>T, NM_001387989.1:c.763C>T, NM_001387986.1:c.763C>T, NM_001388005.1:c.763C>T, NM_001388011.1:c.763C>T, NM_001387956.1:c.763C>T, NM_001388019.1:c.763C>T, NM_001387996.1:c.763C>T, NM_001387995.1:c.763C>T, NM_001387994.1:c.763C>T, XM_047419340.1:c.709C>T, NM_001387988.1:c.763C>T, NM_001388010.1:c.763C>T, NM_001387987.1:c.763C>T, NM_001387985.1:c.763C>T, NM_001387984.1:c.763C>T, XM_047419342.1:c.709C>T, NM_001387965.1:c.763C>T, XM_047419338.1:c.709C>T, XM_047419341.1:c.763C>T, NM_001388007.1:c.763C>T, NM_001388006.1:c.763C>T, NM_001387951.1:c.763C>T, NM_001388015.1:c.763C>T, NM_001387949.1:c.763C>T, XM_047419343.1:c.709C>T, NM_001387946.1:c.763C>T, NM_001387944.1:c.709C>T, NM_001387943.1:c.763C>T, XM_047419345.1:c.709C>T, XM_047419347.1:c.709C>T, XM_047419348.1:c.709C>T, NM_001387940.1:c.763C>T, NM_001388000.1:c.763C>T, NM_001387999.1:c.763C>T, NM_001387998.1:c.763C>T, NM_001388013.1:c.709C>T, XM_047419339.1:c.709C>T, NP_542434.1:p.Pro255Ser, NP_542433.1:p.Pro255Ser, NP_001092004.1:p.Pro255Ser, XP_016866786.1:p.Pro237Ser, NP_001186627.1:p.Pro255Ser, XP_016866785.1:p.Pro255Ser, NP_001186626.1:p.Pro255Ser, NP_001374921.1:p.Pro237Ser, NP_001374920.1:p.Pro237Ser, NP_001374919.1:p.Pro255Ser, NP_001374912.1:p.Pro255Ser, NP_001374911.1:p.Pro237Ser, NP_001374893.1:p.Pro237Ser, NP_001374892.1:p.Pro237Ser, NP_001374938.1:p.Pro255Ser, XP_047275300.1:p.Pro237Ser, NP_001374937.1:p.Pro255Ser, XP_047275302.1:p.Pro237Ser, NP_001374890.1:p.Pro255Ser, NP_001374887.1:p.Pro237Ser, NP_001374884.1:p.Pro255Ser, NP_001374883.1:p.Pro255Ser, NP_001374933.1:p.Pro237Ser, NP_001374932.1:p.Pro255Ser, NP_001374931.1:p.Pro255Ser, XP_047275305.1:p.Pro237Ser, NP_001374871.1:p.Pro237Ser, NP_001374930.1:p.Pro255Ser, NP_001374943.1:p.Pro255Ser, NP_001374926.1:p.Pro237Ser, NP_001374949.1:p.Pro255Ser, NP_001374922.1:p.Pro255Ser, NP_001374947.1:p.Pro255Ser, NP_001374941.1:p.Pro255Ser, NP_001374946.1:p.Pro255Ser, NP_001374945.1:p.Pro255Ser, NP_001374918.1:p.Pro255Ser, NP_001374915.1:p.Pro255Ser, NP_001374934.1:p.Pro255Ser, NP_001374940.1:p.Pro255Ser, NP_001374885.1:p.Pro255Ser, NP_001374948.1:p.Pro255Ser, NP_001374925.1:p.Pro255Ser, NP_001374924.1:p.Pro255Ser, NP_001374923.1:p.Pro255Ser, XP_047275296.1:p.Pro237Ser, NP_001374917.1:p.Pro255Ser, NP_001374939.1:p.Pro255Ser, NP_001374916.1:p.Pro255Ser, NP_001374914.1:p.Pro255Ser, NP_001374913.1:p.Pro255Ser, XP_047275298.1:p.Pro237Ser, NP_001374894.1:p.Pro255Ser, XP_047275294.1:p.Pro237Ser, XP_047275297.1:p.Pro255Ser, NP_001374936.1:p.Pro255Ser, NP_001374935.1:p.Pro255Ser, NP_001374880.1:p.Pro255Ser, NP_001374944.1:p.Pro255Ser, NP_001374878.1:p.Pro255Ser, XP_047275299.1:p.Pro237Ser, NP_001374875.1:p.Pro255Ser, NP_001374873.1:p.Pro237Ser, NP_001374872.1:p.Pro255Ser, XP_047275301.1:p.Pro237Ser, XP_047275303.1:p.Pro237Ser, XP_047275304.1:p.Pro237Ser, NP_001374869.1:p.Pro255Ser, NP_001374929.1:p.Pro255Ser, NP_001374928.1:p.Pro255Ser, NP_001374927.1:p.Pro255Ser, NP_001374942.1:p.Pro237Ser, XP_047275295.1:p.Pro237Ser

              7.

              rs1484713331 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:31644159 (GRCh38)
                6:31611936 (GRCh37)
                Canonical SPDI:
                NC_000006.12:31644158:G:A
                Gene:
                BAG6 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000028/1 (ALFA)
                A=0.000015/4 (TOPMED)
                HGVS:
                NC_000006.12:g.31644159G>A, NC_000006.11:g.31611936G>A, NT_113891.3:g.3121448G>A, NT_113891.2:g.3121554G>A, NT_167248.2:g.2899980G>A, NT_167248.1:g.2905576G>A, NT_167245.2:g.2891925G>A, NT_167245.1:g.2897510G>A, NT_167249.2:g.2943443G>A, NT_167249.1:g.2942741G>A, NT_167246.2:g.2949205G>A, NT_167246.1:g.2954825G>A, NT_167247.2:g.2986024G>A, NT_167247.1:g.2991609G>A, NM_004639.3:c.1501C>T, NM_080703.3:c.1483C>T, NM_080703.2:c.1483C>T, NM_080702.3:c.1483C>T, NM_080702.2:c.1483C>T, NM_001098534.2:c.1483C>T, NM_001098534.1:c.1483C>T, XM_017011297.2:c.1537C>T, XM_017011297.1:c.1537C>T, NM_001199698.2:c.1483C>T, NM_001199698.1:c.1483C>T, XM_017011296.2:c.1483C>T, XM_017011296.1:c.1483C>T, NM_001199697.2:c.1483C>T, NM_001199697.1:c.1483C>T, NM_001387992.1:c.1537C>T, NM_001387991.1:c.1537C>T, NM_001387990.1:c.1483C>T, NM_001387983.1:c.1591C>T, NM_001387982.1:c.1429C>T, NM_001387964.1:c.1429C>T, NM_001387963.1:c.1429C>T, NM_001388009.1:c.1510C>T, XM_047419344.1:c.1537C>T, NM_001387958.1:c.1537C>T, NM_001387954.1:c.1591C>T, NM_001388004.1:c.1429C>T, NM_001388003.1:c.1405C>T, NM_001388002.1:c.1405C>T, NM_001387942.1:c.1429C>T, NM_001388001.1:c.1483C>T, NM_001387997.1:c.1429C>T, NM_001387993.1:c.1591C>T, NM_001388018.1:c.1483C>T, NM_001388012.1:c.1618C>T, NM_001387989.1:c.1591C>T, NM_001388008.1:c.1510C>T, NM_001388011.1:c.1591C>T, NM_001387956.1:c.1483C>T, NM_001388005.1:c.1591C>T, NM_001388019.1:c.1591C>T, NM_001387996.1:c.1591C>T, NM_001387995.1:c.1591C>T, NM_001387994.1:c.1591C>T, XM_047419340.1:c.1537C>T, NM_001388017.1:c.1483C>T, NM_001388016.1:c.1591C>T, NM_001387988.1:c.1591C>T, NM_001388010.1:c.1591C>T, NM_001387987.1:c.1483C>T, NM_001387986.1:c.1483C>T, NM_001387985.1:c.1618C>T, NM_001387984.1:c.1591C>T, XM_047419342.1:c.1429C>T, NM_001387965.1:c.1591C>T, XM_047419338.1:c.1537C>T, XM_047419341.1:c.1591C>T, XM_047419346.1:c.1537C>T, NM_001387961.1:c.1483C>T, NM_001388007.1:c.1483C>T, NM_001387955.1:c.1483C>T, NM_001388006.1:c.1591C>T, NM_001387951.1:c.1483C>T, NM_001388015.1:c.1483C>T, NM_001387949.1:c.1483C>T, XM_047419343.1:c.1429C>T, NM_001387946.1:c.1591C>T, XM_047419349.1:c.1429C>T, NM_001387943.1:c.1591C>T, XM_047419345.1:c.1537C>T, XM_047419347.1:c.1537C>T, XM_047419348.1:c.1429C>T, NM_001387940.1:c.1483C>T, NM_001388000.1:c.1483C>T, NM_001387999.1:c.1483C>T, NM_001387998.1:c.1483C>T, NM_001388014.1:c.1483C>T, NM_001388013.1:c.1429C>T, NM_001388020.1:c.1591C>T, NM_001387944.1:c.1429C>T, XM_047419339.1:c.1537C>T, NP_542434.1:p.Arg495Trp, NP_542433.1:p.Arg495Trp, NP_001092004.1:p.Arg495Trp, XP_016866786.1:p.Arg513Trp, NP_001186627.1:p.Arg495Trp, XP_016866785.1:p.Arg495Trp, NP_001186626.1:p.Arg495Trp, NP_001374921.1:p.Arg513Trp, NP_001374920.1:p.Arg513Trp, NP_001374919.1:p.Arg495Trp, NP_001374912.1:p.Arg531Trp, NP_001374911.1:p.Arg477Trp, NP_001374893.1:p.Arg477Trp, NP_001374892.1:p.Arg477Trp, NP_001374938.1:p.Arg504Trp, XP_047275300.1:p.Arg513Trp, NP_001374887.1:p.Arg513Trp, NP_001374883.1:p.Arg531Trp, NP_001374933.1:p.Arg477Trp, NP_001374932.1:p.Arg469Trp, NP_001374931.1:p.Arg469Trp, NP_001374871.1:p.Arg477Trp, NP_001374930.1:p.Arg495Trp, NP_001374926.1:p.Arg477Trp, NP_001374922.1:p.Arg531Trp, NP_001374947.1:p.Arg495Trp, NP_001374941.1:p.Arg540Trp, NP_001374918.1:p.Arg531Trp, NP_001374937.1:p.Arg504Trp, NP_001374940.1:p.Arg531Trp, NP_001374885.1:p.Arg495Trp, NP_001374934.1:p.Arg531Trp, NP_001374948.1:p.Arg531Trp, NP_001374925.1:p.Arg531Trp, NP_001374924.1:p.Arg531Trp, NP_001374923.1:p.Arg531Trp, XP_047275296.1:p.Arg513Trp, NP_001374946.1:p.Arg495Trp, NP_001374945.1:p.Arg531Trp, NP_001374917.1:p.Arg531Trp, NP_001374939.1:p.Arg531Trp, NP_001374916.1:p.Arg495Trp, NP_001374915.1:p.Arg495Trp, NP_001374914.1:p.Arg540Trp, NP_001374913.1:p.Arg531Trp, XP_047275298.1:p.Arg477Trp, NP_001374894.1:p.Arg531Trp, XP_047275294.1:p.Arg513Trp, XP_047275297.1:p.Arg531Trp, XP_047275302.1:p.Arg513Trp, NP_001374890.1:p.Arg495Trp, NP_001374936.1:p.Arg495Trp, NP_001374884.1:p.Arg495Trp, NP_001374935.1:p.Arg531Trp, NP_001374880.1:p.Arg495Trp, NP_001374944.1:p.Arg495Trp, NP_001374878.1:p.Arg495Trp, XP_047275299.1:p.Arg477Trp, NP_001374875.1:p.Arg531Trp, XP_047275305.1:p.Arg477Trp, NP_001374872.1:p.Arg531Trp, XP_047275301.1:p.Arg513Trp, XP_047275303.1:p.Arg513Trp, XP_047275304.1:p.Arg477Trp, NP_001374869.1:p.Arg495Trp, NP_001374929.1:p.Arg495Trp, NP_001374928.1:p.Arg495Trp, NP_001374927.1:p.Arg495Trp, NP_001374943.1:p.Arg495Trp, NP_001374942.1:p.Arg477Trp, NP_001374949.1:p.Arg531Trp, NP_001374873.1:p.Arg477Trp, XP_047275295.1:p.Arg513Trp

                8.

                rs1483717039 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:31640433 (GRCh38)
                  6:31608210 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:31640432:C:T
                  Gene:
                  BAG6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.31640433C>T, NC_000006.11:g.31608210C>T, NT_113891.3:g.3117720C>T, NT_113891.2:g.3117826C>T, NT_167248.2:g.2896251C>T, NT_167248.1:g.2901847C>T, NT_167245.2:g.2888196C>T, NT_167245.1:g.2893781C>T, NT_167249.2:g.2939714C>T, NT_167249.1:g.2939012C>T, NT_167246.2:g.2945473C>T, NT_167246.1:g.2951093C>T, NT_167247.2:g.2982312C>T, NT_167247.1:g.2987897C>T, NM_004639.3:c.3000G>A, NM_080703.3:c.2982G>A, NM_080703.2:c.2982G>A, NM_080702.3:c.2982G>A, NM_080702.2:c.2982G>A, NM_001098534.2:c.2982G>A, NM_001098534.1:c.2982G>A, XM_017011297.2:c.3033G>A, XM_017011297.1:c.3033G>A, NM_001199698.2:c.2982G>A, NM_001199698.1:c.2982G>A, XM_017011296.2:c.2979G>A, XM_017011296.1:c.2979G>A, NM_001388019.1:c.3087G>A, NM_001387996.1:c.3090G>A, NM_001387995.1:c.3087G>A, NM_001387994.1:c.3090G>A, NM_001387993.1:c.3087G>A, NM_001387992.1:c.3036G>A, XM_047419340.1:c.3033G>A, NM_001388018.1:c.2982G>A, NM_001387991.1:c.3036G>A, NM_001388016.1:c.3087G>A, NM_001387990.1:c.2979G>A, NM_001387988.1:c.3087G>A, NM_001388011.1:c.3090G>A, NM_001388010.1:c.3087G>A, NM_001387987.1:c.2979G>A, NM_001387986.1:c.2982G>A, NM_001387985.1:c.3117G>A, NM_001387984.1:c.3090G>A, NM_001387983.1:c.3087G>A, NM_001387982.1:c.2928G>A, NM_001387964.1:c.2928G>A, NM_001387963.1:c.2925G>A, NM_001388009.1:c.3009G>A, XM_047419344.1:c.3036G>A, NM_001387958.1:c.3036G>A, NM_001388007.1:c.2979G>A, NM_001387956.1:c.2982G>A, NM_001387954.1:c.3090G>A, NM_001388006.1:c.3090G>A, NM_001388005.1:c.3087G>A, NM_001388015.1:c.2982G>A, NM_001388004.1:c.2928G>A, NM_001388003.1:c.2904G>A, NM_001388002.1:c.2901G>A, XM_047419345.1:c.3036G>A, XM_047419347.1:c.3033G>A, XM_047419348.1:c.2928G>A, NM_001387942.1:c.2925G>A, NM_001388001.1:c.2982G>A, NM_001387999.1:c.2982G>A, NM_001387998.1:c.2979G>A, NM_001387997.1:c.2928G>A, NM_001387989.1:c.3090G>A, NM_001388012.1:c.3117G>A, NM_001387965.1:c.3090G>A, NM_001388008.1:c.3006G>A, NM_001387961.1:c.2982G>A, NM_001387955.1:c.2979G>A, NM_001387944.1:c.2928G>A, NM_001387940.1:c.2982G>A, NM_001388014.1:c.2982G>A, XM_047419346.1:c.3033G>A, XM_047419349.1:c.2925G>A, NM_001388020.1:c.3090G>A, NM_001388017.1:c.2982G>A, XM_047419342.1:c.2925G>A, XM_047419338.1:c.3036G>A, XM_047419341.1:c.3087G>A, XM_047419343.1:c.2925G>A, XM_047419339.1:c.3033G>A

                  9.

                  rs1482472046 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    6:31646434 (GRCh38)
                    6:31614211 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:31646433:T:C
                    Gene:
                    BAG6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000006.12:g.31646434T>C, NC_000006.11:g.31614211T>C, NT_113891.3:g.3123723T>C, NT_113891.2:g.3123829T>C, NT_167248.2:g.2902255T>C, NT_167248.1:g.2907851T>C, NT_167245.2:g.2894200T>C, NT_167245.1:g.2899785T>C, NT_167249.2:g.2945718T>C, NT_167249.1:g.2945016T>C, NT_167246.2:g.2951480T>C, NT_167246.1:g.2957100T>C, NT_167247.2:g.2988299T>C, NT_167247.1:g.2993884T>C, NM_004639.3:c.896A>G, NM_080703.3:c.878A>G, NM_080703.2:c.878A>G, NM_080702.3:c.878A>G, NM_080702.2:c.878A>G, NM_001098534.2:c.878A>G, NM_001098534.1:c.878A>G, XM_017011297.2:c.824A>G, XM_017011297.1:c.824A>G, NM_001199698.2:c.878A>G, NM_001199698.1:c.878A>G, XM_017011296.2:c.878A>G, XM_017011296.1:c.878A>G, NM_001199697.2:c.878A>G, NM_001199697.1:c.878A>G, NM_001388019.1:c.878A>G, NM_001387996.1:c.878A>G, NM_001387995.1:c.878A>G, NM_001387994.1:c.878A>G, NM_001387993.1:c.878A>G, NM_001387992.1:c.824A>G, NM_001387991.1:c.824A>G, NM_001387990.1:c.878A>G, NM_001387983.1:c.878A>G, NM_001387982.1:c.824A>G, NM_001387964.1:c.824A>G, NM_001387963.1:c.824A>G, NM_001388009.1:c.878A>G, XM_047419344.1:c.824A>G, NM_001388008.1:c.878A>G, XM_047419346.1:c.824A>G, NM_001387961.1:c.878A>G, NM_001387958.1:c.824A>G, NM_001388007.1:c.878A>G, NM_001387955.1:c.878A>G, NM_001387949.1:c.878A>G, NM_001388004.1:c.824A>G, NM_001388003.1:c.878A>G, NM_001388002.1:c.878A>G, XM_047419349.1:c.824A>G, XM_047419347.1:c.824A>G, NM_001387942.1:c.824A>G, NM_001388001.1:c.878A>G, NM_001388000.1:c.878A>G, NM_001388014.1:c.878A>G, NM_001387997.1:c.824A>G, NM_001388020.1:c.878A>G, NM_001388018.1:c.878A>G, NM_001388012.1:c.878A>G, NM_001388017.1:c.878A>G, NM_001388016.1:c.878A>G, NM_001387989.1:c.878A>G, NM_001388011.1:c.878A>G, NM_001387986.1:c.878A>G, NM_001387984.1:c.878A>G, NM_001387956.1:c.878A>G, NM_001388005.1:c.878A>G, NM_001387946.1:c.878A>G, NM_001387940.1:c.878A>G, NM_001387999.1:c.878A>G, XM_047419340.1:c.824A>G, NM_001387988.1:c.878A>G, NM_001388010.1:c.878A>G, NM_001387987.1:c.878A>G, NM_001387985.1:c.878A>G, XM_047419342.1:c.824A>G, NM_001387965.1:c.878A>G, XM_047419338.1:c.824A>G, XM_047419341.1:c.878A>G, NM_001387954.1:c.878A>G, NM_001388006.1:c.878A>G, NM_001387951.1:c.878A>G, NM_001388015.1:c.878A>G, XM_047419343.1:c.824A>G, NM_001387944.1:c.824A>G, NM_001387943.1:c.878A>G, XM_047419345.1:c.824A>G, XM_047419348.1:c.824A>G, NM_001387998.1:c.878A>G, NM_001388013.1:c.824A>G, XM_047419339.1:c.824A>G, NP_542434.1:p.Glu293Gly, NP_542433.1:p.Glu293Gly, NP_001092004.1:p.Glu293Gly, XP_016866786.1:p.Glu275Gly, NP_001186627.1:p.Glu293Gly, XP_016866785.1:p.Glu293Gly, NP_001186626.1:p.Glu293Gly, NP_001374948.1:p.Glu293Gly, NP_001374925.1:p.Glu293Gly, NP_001374924.1:p.Glu293Gly, NP_001374923.1:p.Glu293Gly, NP_001374922.1:p.Glu293Gly, NP_001374921.1:p.Glu275Gly, NP_001374920.1:p.Glu275Gly, NP_001374919.1:p.Glu293Gly, NP_001374912.1:p.Glu293Gly, NP_001374911.1:p.Glu275Gly, NP_001374893.1:p.Glu275Gly, NP_001374892.1:p.Glu275Gly, NP_001374938.1:p.Glu293Gly, XP_047275300.1:p.Glu275Gly, NP_001374937.1:p.Glu293Gly, XP_047275302.1:p.Glu275Gly, NP_001374890.1:p.Glu293Gly, NP_001374887.1:p.Glu275Gly, NP_001374936.1:p.Glu293Gly, NP_001374884.1:p.Glu293Gly, NP_001374878.1:p.Glu293Gly, NP_001374933.1:p.Glu275Gly, NP_001374932.1:p.Glu293Gly, NP_001374931.1:p.Glu293Gly, XP_047275305.1:p.Glu275Gly, XP_047275303.1:p.Glu275Gly, NP_001374871.1:p.Glu275Gly, NP_001374930.1:p.Glu293Gly, NP_001374929.1:p.Glu293Gly, NP_001374943.1:p.Glu293Gly, NP_001374926.1:p.Glu275Gly, NP_001374949.1:p.Glu293Gly, NP_001374947.1:p.Glu293Gly, NP_001374941.1:p.Glu293Gly, NP_001374946.1:p.Glu293Gly, NP_001374945.1:p.Glu293Gly, NP_001374918.1:p.Glu293Gly, NP_001374940.1:p.Glu293Gly, NP_001374915.1:p.Glu293Gly, NP_001374913.1:p.Glu293Gly, NP_001374885.1:p.Glu293Gly, NP_001374934.1:p.Glu293Gly, NP_001374875.1:p.Glu293Gly, NP_001374869.1:p.Glu293Gly, NP_001374928.1:p.Glu293Gly, XP_047275296.1:p.Glu275Gly, NP_001374917.1:p.Glu293Gly, NP_001374939.1:p.Glu293Gly, NP_001374916.1:p.Glu293Gly, NP_001374914.1:p.Glu293Gly, XP_047275298.1:p.Glu275Gly, NP_001374894.1:p.Glu293Gly, XP_047275294.1:p.Glu275Gly, XP_047275297.1:p.Glu293Gly, NP_001374883.1:p.Glu293Gly, NP_001374935.1:p.Glu293Gly, NP_001374880.1:p.Glu293Gly, NP_001374944.1:p.Glu293Gly, XP_047275299.1:p.Glu275Gly, NP_001374873.1:p.Glu275Gly, NP_001374872.1:p.Glu293Gly, XP_047275301.1:p.Glu275Gly, XP_047275304.1:p.Glu275Gly, NP_001374927.1:p.Glu293Gly, NP_001374942.1:p.Glu275Gly, XP_047275295.1:p.Glu275Gly

                    10.

                    rs1481713430 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:31641400 (GRCh38)
                      6:31609177 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:31641399:C:T
                      Gene:
                      BAG6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000006.12:g.31641400C>T, NC_000006.11:g.31609177C>T, NT_113891.3:g.3118687C>T, NT_113891.2:g.3118793C>T, NT_167248.2:g.2897218C>T, NT_167248.1:g.2902814C>T, NT_167245.2:g.2889163C>T, NT_167245.1:g.2894748C>T, NT_167249.2:g.2940681C>T, NT_167249.1:g.2939979C>T, NT_167246.2:g.2946440C>T, NT_167246.1:g.2952060C>T, NT_167247.2:g.2983279C>T, NT_167247.1:g.2988864C>T, NM_004639.3:c.2492G>A, NM_080703.3:c.2474G>A, NM_080703.2:c.2474G>A, NM_080702.3:c.2474G>A, NM_080702.2:c.2474G>A, NM_001098534.2:c.2474G>A, NM_001098534.1:c.2474G>A, XM_017011297.2:c.2525G>A, XM_017011297.1:c.2525G>A, NM_001199698.2:c.2474G>A, NM_001199698.1:c.2474G>A, XM_017011296.2:c.2471G>A, XM_017011296.1:c.2471G>A, NM_001199697.2:c.2096G>A, NM_001199697.1:c.2096G>A, NM_001387992.1:c.2528G>A, NM_001387991.1:c.2528G>A, NM_001387990.1:c.2471G>A, NM_001387983.1:c.2579G>A, NM_001387982.1:c.2420G>A, XM_047419342.1:c.2417G>A, NM_001387965.1:c.2582G>A, XM_047419338.1:c.2528G>A, XM_047419341.1:c.2579G>A, NM_001387964.1:c.2420G>A, NM_001387963.1:c.2417G>A, NM_001388009.1:c.2501G>A, XM_047419344.1:c.2528G>A, NM_001388008.1:c.2498G>A, XM_047419346.1:c.2525G>A, NM_001387961.1:c.2474G>A, NM_001387958.1:c.2528G>A, NM_001387954.1:c.2582G>A, NM_001388004.1:c.2420G>A, XM_047419343.1:c.2417G>A, NM_001387946.1:c.2582G>A, NM_001388003.1:c.2396G>A, NM_001388002.1:c.2393G>A, XM_047419349.1:c.2417G>A, NM_001387942.1:c.2417G>A, NM_001388001.1:c.2474G>A, NM_001387940.1:c.2474G>A, NM_001388014.1:c.2474G>A, NM_001387997.1:c.2420G>A, NM_001388020.1:c.2582G>A, NM_001388019.1:c.2579G>A, NM_001387995.1:c.2579G>A, NM_001387993.1:c.2579G>A, NM_001388018.1:c.2474G>A, NM_001388012.1:c.2609G>A, NM_001388017.1:c.2474G>A, NM_001388016.1:c.2579G>A, NM_001387989.1:c.2582G>A, NM_001388011.1:c.2582G>A, NM_001388010.1:c.2579G>A, NM_001387986.1:c.2474G>A, NM_001387956.1:c.2474G>A, NM_001388005.1:c.2579G>A, NM_001388015.1:c.2474G>A, NM_001388000.1:c.2471G>A, NM_001387996.1:c.2582G>A, NM_001387994.1:c.2582G>A, XM_047419340.1:c.2525G>A, XM_047419339.1:c.2525G>A, NM_001387988.1:c.2579G>A, NM_001387987.1:c.2471G>A, NM_001387985.1:c.2609G>A, NM_001387984.1:c.2582G>A, NM_001388007.1:c.2471G>A, NM_001387955.1:c.2471G>A, NM_001388006.1:c.2582G>A, NM_001387951.1:c.2474G>A, NM_001387949.1:c.2471G>A, NM_001387943.1:c.2582G>A, XM_047419345.1:c.2528G>A, XM_047419348.1:c.2420G>A, NM_001387999.1:c.2474G>A, NM_001387998.1:c.2471G>A, NM_001388013.1:c.2417G>A, NM_001387944.1:c.2420G>A, XM_047419347.1:c.2525G>A, NP_542434.1:p.Gly825Asp, NP_542433.1:p.Gly825Asp, NP_001092004.1:p.Gly825Asp, XP_016866786.1:p.Gly842Asp, NP_001186627.1:p.Gly825Asp, XP_016866785.1:p.Gly824Asp, NP_001186626.1:p.Gly699Asp, NP_001374921.1:p.Gly843Asp, NP_001374920.1:p.Gly843Asp, NP_001374919.1:p.Gly824Asp, NP_001374912.1:p.Gly860Asp, NP_001374911.1:p.Gly807Asp, XP_047275298.1:p.Gly806Asp, NP_001374894.1:p.Gly861Asp, XP_047275294.1:p.Gly843Asp, XP_047275297.1:p.Gly860Asp, NP_001374893.1:p.Gly807Asp, NP_001374892.1:p.Gly806Asp, NP_001374938.1:p.Gly834Asp, XP_047275300.1:p.Gly843Asp, NP_001374937.1:p.Gly833Asp, XP_047275302.1:p.Gly842Asp, NP_001374890.1:p.Gly825Asp, NP_001374887.1:p.Gly843Asp, NP_001374883.1:p.Gly861Asp, NP_001374933.1:p.Gly807Asp, XP_047275299.1:p.Gly806Asp, NP_001374875.1:p.Gly861Asp, NP_001374932.1:p.Gly799Asp, NP_001374931.1:p.Gly798Asp, XP_047275305.1:p.Gly806Asp, NP_001374871.1:p.Gly806Asp, NP_001374930.1:p.Gly825Asp, NP_001374869.1:p.Gly825Asp, NP_001374943.1:p.Gly825Asp, NP_001374926.1:p.Gly807Asp, NP_001374949.1:p.Gly861Asp, NP_001374948.1:p.Gly860Asp, NP_001374924.1:p.Gly860Asp, NP_001374922.1:p.Gly860Asp, NP_001374947.1:p.Gly825Asp, NP_001374941.1:p.Gly870Asp, NP_001374946.1:p.Gly825Asp, NP_001374945.1:p.Gly860Asp, NP_001374918.1:p.Gly861Asp, NP_001374940.1:p.Gly861Asp, NP_001374939.1:p.Gly860Asp, NP_001374915.1:p.Gly825Asp, NP_001374885.1:p.Gly825Asp, NP_001374934.1:p.Gly860Asp, NP_001374944.1:p.Gly825Asp, NP_001374929.1:p.Gly824Asp, NP_001374925.1:p.Gly861Asp, NP_001374923.1:p.Gly861Asp, XP_047275296.1:p.Gly842Asp, XP_047275295.1:p.Gly842Asp, NP_001374917.1:p.Gly860Asp, NP_001374916.1:p.Gly824Asp, NP_001374914.1:p.Gly870Asp, NP_001374913.1:p.Gly861Asp, NP_001374936.1:p.Gly824Asp, NP_001374884.1:p.Gly824Asp, NP_001374935.1:p.Gly861Asp, NP_001374880.1:p.Gly825Asp, NP_001374878.1:p.Gly824Asp, NP_001374872.1:p.Gly861Asp, XP_047275301.1:p.Gly843Asp, XP_047275304.1:p.Gly807Asp, NP_001374928.1:p.Gly825Asp, NP_001374927.1:p.Gly824Asp, NP_001374942.1:p.Gly806Asp, NP_001374873.1:p.Gly807Asp, XP_047275303.1:p.Gly842Asp

                      11.

                      rs1481566664 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:31642173 (GRCh38)
                        6:31609950 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:31642172:G:A
                        Gene:
                        BAG6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.31642173G>A, NC_000006.11:g.31609950G>A, NT_113891.3:g.3119460G>A, NT_113891.2:g.3119566G>A, NT_167248.2:g.2897991G>A, NT_167248.1:g.2903587G>A, NT_167245.2:g.2889936G>A, NT_167245.1:g.2895521G>A, NT_167249.2:g.2941454G>A, NT_167249.1:g.2940752G>A, NT_167246.2:g.2947213G>A, NT_167246.1:g.2952833G>A, NT_167247.2:g.2984052G>A, NT_167247.1:g.2989637G>A, NM_004639.3:c.2184C>T, NM_080703.3:c.2166C>T, NM_080703.2:c.2166C>T, NM_080702.3:c.2166C>T, NM_080702.2:c.2166C>T, NM_001098534.2:c.2166C>T, NM_001098534.1:c.2166C>T, XM_017011297.2:c.2217C>T, XM_017011297.1:c.2217C>T, NM_001199698.2:c.2166C>T, NM_001199698.1:c.2166C>T, XM_017011296.2:c.2163C>T, XM_017011296.1:c.2163C>T, NM_001199697.2:c.1788C>T, NM_001199697.1:c.1788C>T, NM_001388019.1:c.2271C>T, NM_001387996.1:c.2274C>T, NM_001387995.1:c.2271C>T, NM_001387994.1:c.2274C>T, NM_001387993.1:c.2271C>T, NM_001387992.1:c.2220C>T, NM_001388018.1:c.2166C>T, NM_001387991.1:c.2220C>T, NM_001387990.1:c.2163C>T, NM_001387989.1:c.2274C>T, NM_001387988.1:c.2271C>T, NM_001388011.1:c.2274C>T, NM_001388010.1:c.2271C>T, NM_001387987.1:c.2163C>T, NM_001387986.1:c.2166C>T, NM_001387985.1:c.2301C>T, NM_001387984.1:c.2274C>T, NM_001387983.1:c.2271C>T, NM_001387982.1:c.2112C>T, XM_047419342.1:c.2109C>T, NM_001387965.1:c.2274C>T, XM_047419338.1:c.2220C>T, XM_047419341.1:c.2271C>T, NM_001387964.1:c.2112C>T, NM_001387963.1:c.2109C>T, NM_001388009.1:c.2193C>T, XM_047419344.1:c.2220C>T, NM_001387958.1:c.2220C>T, NM_001388007.1:c.2163C>T, NM_001387954.1:c.2274C>T, NM_001388005.1:c.2271C>T, NM_001387951.1:c.2166C>T, NM_001388015.1:c.2166C>T, NM_001387949.1:c.2163C>T, NM_001388004.1:c.2112C>T, XM_047419343.1:c.2109C>T, NM_001387946.1:c.2274C>T, NM_001388003.1:c.2088C>T, NM_001388002.1:c.2085C>T, NM_001387943.1:c.2274C>T, XM_047419347.1:c.2217C>T, XM_047419348.1:c.2112C>T, NM_001387942.1:c.2109C>T, NM_001388001.1:c.2166C>T, NM_001387940.1:c.2166C>T, NM_001388000.1:c.2163C>T, NM_001387999.1:c.2166C>T, NM_001387997.1:c.2112C>T, NM_001388013.1:c.2109C>T, NM_001388012.1:c.2301C>T, NM_001388017.1:c.2166C>T, NM_001388008.1:c.2190C>T, NM_001387961.1:c.2166C>T, NM_001387956.1:c.2166C>T, NM_001388006.1:c.2274C>T, NM_001387944.1:c.2112C>T, NM_001388014.1:c.2166C>T, XM_047419340.1:c.2217C>T, NM_001388016.1:c.2271C>T, XM_047419346.1:c.2217C>T, NM_001387955.1:c.2163C>T, XM_047419349.1:c.2109C>T, XM_047419345.1:c.2220C>T, NM_001387998.1:c.2163C>T, NM_001388020.1:c.2274C>T, XM_047419339.1:c.2217C>T

                        12.

                        rs1480317873 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          6:31644157 (GRCh38)
                          6:31611934 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:31644156:C:T
                          Gene:
                          BAG6 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000006.12:g.31644157C>T, NC_000006.11:g.31611934C>T, NT_113891.3:g.3121446C>T, NT_113891.2:g.3121552C>T, NT_167248.2:g.2899978C>T, NT_167248.1:g.2905574C>T, NT_167245.2:g.2891923C>T, NT_167245.1:g.2897508C>T, NT_167249.2:g.2943441C>T, NT_167249.1:g.2942739C>T, NT_167246.2:g.2949203C>T, NT_167246.1:g.2954823C>T, NT_167247.2:g.2986022C>T, NT_167247.1:g.2991607C>T, NM_004639.3:c.1503G>A, NM_080703.3:c.1485G>A, NM_080703.2:c.1485G>A, NM_080702.3:c.1485G>A, NM_080702.2:c.1485G>A, NM_001098534.2:c.1485G>A, NM_001098534.1:c.1485G>A, XM_017011297.2:c.1539G>A, XM_017011297.1:c.1539G>A, NM_001199698.2:c.1485G>A, NM_001199698.1:c.1485G>A, XM_017011296.2:c.1485G>A, XM_017011296.1:c.1485G>A, NM_001199697.2:c.1485G>A, NM_001199697.1:c.1485G>A, NM_001388019.1:c.1593G>A, NM_001387996.1:c.1593G>A, NM_001387995.1:c.1593G>A, NM_001387994.1:c.1593G>A, NM_001387993.1:c.1593G>A, NM_001387992.1:c.1539G>A, XM_047419340.1:c.1539G>A, NM_001388018.1:c.1485G>A, NM_001387991.1:c.1539G>A, NM_001388016.1:c.1593G>A, NM_001387990.1:c.1485G>A, NM_001387988.1:c.1593G>A, NM_001388011.1:c.1593G>A, NM_001388010.1:c.1593G>A, NM_001387987.1:c.1485G>A, NM_001387986.1:c.1485G>A, NM_001387985.1:c.1620G>A, NM_001387984.1:c.1593G>A, NM_001387983.1:c.1593G>A, NM_001387982.1:c.1431G>A, NM_001387964.1:c.1431G>A, NM_001387963.1:c.1431G>A, NM_001388009.1:c.1512G>A, XM_047419344.1:c.1539G>A, NM_001387958.1:c.1539G>A, NM_001388007.1:c.1485G>A, NM_001387956.1:c.1485G>A, NM_001387955.1:c.1485G>A, NM_001387954.1:c.1593G>A, NM_001388006.1:c.1593G>A, NM_001388005.1:c.1593G>A, NM_001387951.1:c.1485G>A, NM_001388015.1:c.1485G>A, NM_001387949.1:c.1485G>A, NM_001388004.1:c.1431G>A, NM_001388003.1:c.1407G>A, NM_001388002.1:c.1407G>A, NM_001387943.1:c.1593G>A, XM_047419345.1:c.1539G>A, XM_047419347.1:c.1539G>A, XM_047419348.1:c.1431G>A, NM_001387942.1:c.1431G>A, NM_001388001.1:c.1485G>A, NM_001388000.1:c.1485G>A, NM_001387999.1:c.1485G>A, NM_001387998.1:c.1485G>A, NM_001387997.1:c.1431G>A, NM_001388013.1:c.1431G>A, NM_001387989.1:c.1593G>A, NM_001388012.1:c.1620G>A, NM_001387965.1:c.1593G>A, NM_001388008.1:c.1512G>A, NM_001387961.1:c.1485G>A, NM_001387946.1:c.1593G>A, NM_001387944.1:c.1431G>A, NM_001387940.1:c.1485G>A, NM_001388014.1:c.1485G>A, XM_047419346.1:c.1539G>A, XM_047419349.1:c.1431G>A, NM_001388020.1:c.1593G>A, NM_001388017.1:c.1485G>A, XM_047419342.1:c.1431G>A, XM_047419338.1:c.1539G>A, XM_047419341.1:c.1593G>A, XM_047419343.1:c.1431G>A, XM_047419339.1:c.1539G>A

                          13.

                          rs1480091009 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,G [Show Flanks]
                            Chromosome:
                            6:31649591 (GRCh38)
                            6:31617368 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:31649590:A:C,NC_000006.12:31649590:A:G
                            Gene:
                            BAG6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000006.12:g.31649591A>C, NC_000006.12:g.31649591A>G, NC_000006.11:g.31617368A>C, NC_000006.11:g.31617368A>G, NT_113891.3:g.3126881A>C, NT_113891.3:g.3126881A>G, NT_113891.2:g.3126987A>C, NT_113891.2:g.3126987A>G, NT_167248.2:g.2905412A>C, NT_167248.2:g.2905412A>G, NT_167248.1:g.2911008A>C, NT_167248.1:g.2911008A>G, NT_167245.2:g.2897358A>C, NT_167245.2:g.2897358A>G, NT_167245.1:g.2902943A>C, NT_167245.1:g.2902943A>G, NT_167249.2:g.2948875A>C, NT_167249.2:g.2948875A>G, NT_167249.1:g.2948173A>C, NT_167249.1:g.2948173A>G, NT_167246.2:g.2954637A>C, NT_167246.2:g.2954637A>G, NT_167246.1:g.2960257A>C, NT_167246.1:g.2960257A>G, NT_167247.2:g.2991457A>C, NT_167247.2:g.2991457A>G, NT_167247.1:g.2997042A>C, NT_167247.1:g.2997042A>G, NM_004639.3:c.145T>G, NM_004639.3:c.145T>C, NM_080703.3:c.145T>G, NM_080703.3:c.145T>C, NM_080703.2:c.145T>G, NM_080703.2:c.145T>C, NM_080702.3:c.145T>G, NM_080702.3:c.145T>C, NM_080702.2:c.145T>G, NM_080702.2:c.145T>C, NM_001098534.2:c.145T>G, NM_001098534.2:c.145T>C, NM_001098534.1:c.145T>G, NM_001098534.1:c.145T>C, XM_017011297.2:c.145T>G, XM_017011297.2:c.145T>C, XM_017011297.1:c.145T>G, XM_017011297.1:c.145T>C, NM_001199698.2:c.145T>G, NM_001199698.2:c.145T>C, NM_001199698.1:c.145T>G, NM_001199698.1:c.145T>C, XM_017011296.2:c.145T>G, XM_017011296.2:c.145T>C, XM_017011296.1:c.145T>G, XM_017011296.1:c.145T>C, NM_001199697.2:c.145T>G, NM_001199697.2:c.145T>C, NM_001199697.1:c.145T>G, NM_001199697.1:c.145T>C, NM_001387992.1:c.145T>G, NM_001387992.1:c.145T>C, NM_001387991.1:c.145T>G, NM_001387991.1:c.145T>C, NM_001387990.1:c.145T>G, NM_001387990.1:c.145T>C, NM_001387983.1:c.145T>G, NM_001387983.1:c.145T>C, NM_001387982.1:c.145T>G, NM_001387982.1:c.145T>C, NM_001387964.1:c.145T>G, NM_001387964.1:c.145T>C, NM_001387963.1:c.145T>G, NM_001387963.1:c.145T>C, NM_001388009.1:c.145T>G, NM_001388009.1:c.145T>C, XM_047419344.1:c.145T>G, XM_047419344.1:c.145T>C, NM_001387958.1:c.145T>G, NM_001387958.1:c.145T>C, NM_001387954.1:c.145T>G, NM_001387954.1:c.145T>C, NM_001388004.1:c.145T>G, NM_001388004.1:c.145T>C, NM_001388003.1:c.145T>G, NM_001388003.1:c.145T>C, NM_001388002.1:c.145T>G, NM_001388002.1:c.145T>C, NM_001387942.1:c.145T>G, NM_001387942.1:c.145T>C, NM_001388001.1:c.145T>G, NM_001388001.1:c.145T>C, NM_001387997.1:c.145T>G, NM_001387997.1:c.145T>C, NM_001387993.1:c.145T>G, NM_001387993.1:c.145T>C, NM_001388018.1:c.145T>G, NM_001388018.1:c.145T>C, NM_001388012.1:c.145T>G, NM_001388012.1:c.145T>C, NM_001387989.1:c.145T>G, NM_001387989.1:c.145T>C, NM_001388008.1:c.145T>G, NM_001388008.1:c.145T>C, NM_001388011.1:c.145T>G, NM_001388011.1:c.145T>C, NM_001387956.1:c.145T>G, NM_001387956.1:c.145T>C, NM_001388005.1:c.145T>G, NM_001388005.1:c.145T>C, NM_001388019.1:c.145T>G, NM_001388019.1:c.145T>C, NM_001387996.1:c.145T>G, NM_001387996.1:c.145T>C, NM_001387995.1:c.145T>G, NM_001387995.1:c.145T>C, NM_001387994.1:c.145T>G, NM_001387994.1:c.145T>C, XM_047419340.1:c.145T>G, XM_047419340.1:c.145T>C, NM_001388017.1:c.145T>G, NM_001388017.1:c.145T>C, NM_001388016.1:c.145T>G, NM_001388016.1:c.145T>C, NM_001387988.1:c.145T>G, NM_001387988.1:c.145T>C, NM_001388010.1:c.145T>G, NM_001388010.1:c.145T>C, NM_001387987.1:c.145T>G, NM_001387987.1:c.145T>C, NM_001387986.1:c.145T>G, NM_001387986.1:c.145T>C, NM_001387985.1:c.145T>G, NM_001387985.1:c.145T>C, NM_001387984.1:c.145T>G, NM_001387984.1:c.145T>C, XM_047419342.1:c.145T>G, XM_047419342.1:c.145T>C, NM_001387965.1:c.145T>G, NM_001387965.1:c.145T>C, XM_047419338.1:c.145T>G, XM_047419338.1:c.145T>C, XM_047419341.1:c.145T>G, XM_047419341.1:c.145T>C, XM_047419346.1:c.145T>G, XM_047419346.1:c.145T>C, NM_001387961.1:c.145T>G, NM_001387961.1:c.145T>C, NM_001388007.1:c.145T>G, NM_001388007.1:c.145T>C, NM_001387955.1:c.145T>G, NM_001387955.1:c.145T>C, NM_001388006.1:c.145T>G, NM_001388006.1:c.145T>C, NM_001387951.1:c.145T>G, NM_001387951.1:c.145T>C, NM_001388015.1:c.145T>G, NM_001388015.1:c.145T>C, NM_001387949.1:c.145T>G, NM_001387949.1:c.145T>C, XM_047419343.1:c.145T>G, XM_047419343.1:c.145T>C, NM_001387946.1:c.145T>G, NM_001387946.1:c.145T>C, XM_047419349.1:c.145T>G, XM_047419349.1:c.145T>C, NM_001387943.1:c.145T>G, NM_001387943.1:c.145T>C, XM_047419345.1:c.145T>G, XM_047419345.1:c.145T>C, XM_047419347.1:c.145T>G, XM_047419347.1:c.145T>C, XM_047419348.1:c.145T>G, XM_047419348.1:c.145T>C, NM_001387940.1:c.145T>G, NM_001387940.1:c.145T>C, NM_001388000.1:c.145T>G, NM_001388000.1:c.145T>C, NM_001387999.1:c.145T>G, NM_001387999.1:c.145T>C, NM_001387998.1:c.145T>G, NM_001387998.1:c.145T>C, NM_001388014.1:c.145T>G, NM_001388014.1:c.145T>C, NM_001388013.1:c.145T>G, NM_001388013.1:c.145T>C, NM_001388020.1:c.145T>G, NM_001388020.1:c.145T>C, NM_001387944.1:c.145T>G, NM_001387944.1:c.145T>C, XM_047419339.1:c.145T>G, XM_047419339.1:c.145T>C, NP_542434.1:p.Ser49Ala, NP_542434.1:p.Ser49Pro, NP_542433.1:p.Ser49Ala, NP_542433.1:p.Ser49Pro, NP_001092004.1:p.Ser49Ala, NP_001092004.1:p.Ser49Pro, XP_016866786.1:p.Ser49Ala, XP_016866786.1:p.Ser49Pro, NP_001186627.1:p.Ser49Ala, NP_001186627.1:p.Ser49Pro, XP_016866785.1:p.Ser49Ala, XP_016866785.1:p.Ser49Pro, NP_001186626.1:p.Ser49Ala, NP_001186626.1:p.Ser49Pro, NP_001374921.1:p.Ser49Ala, NP_001374921.1:p.Ser49Pro, NP_001374920.1:p.Ser49Ala, NP_001374920.1:p.Ser49Pro, NP_001374919.1:p.Ser49Ala, NP_001374919.1:p.Ser49Pro, NP_001374912.1:p.Ser49Ala, NP_001374912.1:p.Ser49Pro, NP_001374911.1:p.Ser49Ala, NP_001374911.1:p.Ser49Pro, NP_001374893.1:p.Ser49Ala, NP_001374893.1:p.Ser49Pro, NP_001374892.1:p.Ser49Ala, NP_001374892.1:p.Ser49Pro, NP_001374938.1:p.Ser49Ala, NP_001374938.1:p.Ser49Pro, XP_047275300.1:p.Ser49Ala, XP_047275300.1:p.Ser49Pro, NP_001374887.1:p.Ser49Ala, NP_001374887.1:p.Ser49Pro, NP_001374883.1:p.Ser49Ala, NP_001374883.1:p.Ser49Pro, NP_001374933.1:p.Ser49Ala, NP_001374933.1:p.Ser49Pro, NP_001374932.1:p.Ser49Ala, NP_001374932.1:p.Ser49Pro, NP_001374931.1:p.Ser49Ala, NP_001374931.1:p.Ser49Pro, NP_001374871.1:p.Ser49Ala, NP_001374871.1:p.Ser49Pro, NP_001374930.1:p.Ser49Ala, NP_001374930.1:p.Ser49Pro, NP_001374926.1:p.Ser49Ala, NP_001374926.1:p.Ser49Pro, NP_001374922.1:p.Ser49Ala, NP_001374922.1:p.Ser49Pro, NP_001374947.1:p.Ser49Ala, NP_001374947.1:p.Ser49Pro, NP_001374941.1:p.Ser49Ala, NP_001374941.1:p.Ser49Pro, NP_001374918.1:p.Ser49Ala, NP_001374918.1:p.Ser49Pro, NP_001374937.1:p.Ser49Ala, NP_001374937.1:p.Ser49Pro, NP_001374940.1:p.Ser49Ala, NP_001374940.1:p.Ser49Pro, NP_001374885.1:p.Ser49Ala, NP_001374885.1:p.Ser49Pro, NP_001374934.1:p.Ser49Ala, NP_001374934.1:p.Ser49Pro, NP_001374948.1:p.Ser49Ala, NP_001374948.1:p.Ser49Pro, NP_001374925.1:p.Ser49Ala, NP_001374925.1:p.Ser49Pro, NP_001374924.1:p.Ser49Ala, NP_001374924.1:p.Ser49Pro, NP_001374923.1:p.Ser49Ala, NP_001374923.1:p.Ser49Pro, XP_047275296.1:p.Ser49Ala, XP_047275296.1:p.Ser49Pro, NP_001374946.1:p.Ser49Ala, NP_001374946.1:p.Ser49Pro, NP_001374945.1:p.Ser49Ala, NP_001374945.1:p.Ser49Pro, NP_001374917.1:p.Ser49Ala, NP_001374917.1:p.Ser49Pro, NP_001374939.1:p.Ser49Ala, NP_001374939.1:p.Ser49Pro, NP_001374916.1:p.Ser49Ala, NP_001374916.1:p.Ser49Pro, NP_001374915.1:p.Ser49Ala, NP_001374915.1:p.Ser49Pro, NP_001374914.1:p.Ser49Ala, NP_001374914.1:p.Ser49Pro, NP_001374913.1:p.Ser49Ala, NP_001374913.1:p.Ser49Pro, XP_047275298.1:p.Ser49Ala, XP_047275298.1:p.Ser49Pro, NP_001374894.1:p.Ser49Ala, NP_001374894.1:p.Ser49Pro, XP_047275294.1:p.Ser49Ala, XP_047275294.1:p.Ser49Pro, XP_047275297.1:p.Ser49Ala, XP_047275297.1:p.Ser49Pro, XP_047275302.1:p.Ser49Ala, XP_047275302.1:p.Ser49Pro, NP_001374890.1:p.Ser49Ala, NP_001374890.1:p.Ser49Pro, NP_001374936.1:p.Ser49Ala, NP_001374936.1:p.Ser49Pro, NP_001374884.1:p.Ser49Ala, NP_001374884.1:p.Ser49Pro, NP_001374935.1:p.Ser49Ala, NP_001374935.1:p.Ser49Pro, NP_001374880.1:p.Ser49Ala, NP_001374880.1:p.Ser49Pro, NP_001374944.1:p.Ser49Ala, NP_001374944.1:p.Ser49Pro, NP_001374878.1:p.Ser49Ala, NP_001374878.1:p.Ser49Pro, XP_047275299.1:p.Ser49Ala, XP_047275299.1:p.Ser49Pro, NP_001374875.1:p.Ser49Ala, NP_001374875.1:p.Ser49Pro, XP_047275305.1:p.Ser49Ala, XP_047275305.1:p.Ser49Pro, NP_001374872.1:p.Ser49Ala, NP_001374872.1:p.Ser49Pro, XP_047275301.1:p.Ser49Ala, XP_047275301.1:p.Ser49Pro, XP_047275303.1:p.Ser49Ala, XP_047275303.1:p.Ser49Pro, XP_047275304.1:p.Ser49Ala, XP_047275304.1:p.Ser49Pro, NP_001374869.1:p.Ser49Ala, NP_001374869.1:p.Ser49Pro, NP_001374929.1:p.Ser49Ala, NP_001374929.1:p.Ser49Pro, NP_001374928.1:p.Ser49Ala, NP_001374928.1:p.Ser49Pro, NP_001374927.1:p.Ser49Ala, NP_001374927.1:p.Ser49Pro, NP_001374943.1:p.Ser49Ala, NP_001374943.1:p.Ser49Pro, NP_001374942.1:p.Ser49Ala, NP_001374942.1:p.Ser49Pro, NP_001374949.1:p.Ser49Ala, NP_001374949.1:p.Ser49Pro, NP_001374873.1:p.Ser49Ala, NP_001374873.1:p.Ser49Pro, XP_047275295.1:p.Ser49Ala, XP_047275295.1:p.Ser49Pro

                            14.

                            rs1479798497 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:31642319 (GRCh38)
                              6:31610096 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:31642318:A:G
                              Gene:
                              BAG6 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000031/1 (ALFA)
                              G=0.000006/1 (GnomAD_exomes)
                              G=0.000009/1 (GnomAD)
                              HGVS:
                              NC_000006.12:g.31642319A>G, NC_000006.11:g.31610096A>G, NT_113891.3:g.3119606A>G, NT_113891.2:g.3119712A>G, NT_167248.2:g.2898137A>G, NT_167248.1:g.2903733A>G, NT_167245.2:g.2890082A>G, NT_167245.1:g.2895667A>G, NT_167249.2:g.2941600A>G, NT_167249.1:g.2940898A>G, NT_167246.2:g.2947359A>G, NT_167246.1:g.2952979A>G, NT_167247.2:g.2984198A>G, NT_167247.1:g.2989783A>G, NM_004639.3:c.2038T>C, NM_080703.3:c.2020T>C, NM_080703.2:c.2020T>C, NM_080702.3:c.2020T>C, NM_080702.2:c.2020T>C, NM_001098534.2:c.2020T>C, NM_001098534.1:c.2020T>C, XM_017011297.2:c.2071T>C, XM_017011297.1:c.2071T>C, NM_001199698.2:c.2020T>C, NM_001199698.1:c.2020T>C, XM_017011296.2:c.2017T>C, XM_017011296.1:c.2017T>C, NM_001387954.1:c.2128T>C, NM_001388019.1:c.2125T>C, NM_001387996.1:c.2128T>C, NM_001387995.1:c.2125T>C, NM_001387994.1:c.2128T>C, NM_001387993.1:c.2125T>C, NM_001387992.1:c.2074T>C, NM_001387991.1:c.2074T>C, NM_001387990.1:c.2017T>C, NM_001387988.1:c.2125T>C, NM_001388011.1:c.2128T>C, NM_001388010.1:c.2125T>C, NM_001387987.1:c.2017T>C, NM_001387986.1:c.2020T>C, NM_001387985.1:c.2155T>C, NM_001387984.1:c.2128T>C, NM_001387983.1:c.2125T>C, NM_001387982.1:c.1966T>C, XM_047419342.1:c.1963T>C, NM_001387965.1:c.2128T>C, XM_047419338.1:c.2074T>C, XM_047419341.1:c.2125T>C, NM_001387964.1:c.1966T>C, NM_001387963.1:c.1963T>C, NM_001388009.1:c.2047T>C, XM_047419344.1:c.2074T>C, NM_001387958.1:c.2074T>C, NM_001388007.1:c.2017T>C, NM_001388005.1:c.2125T>C, NM_001387951.1:c.2020T>C, NM_001388015.1:c.2020T>C, NM_001387949.1:c.2017T>C, NM_001388004.1:c.1966T>C, XM_047419343.1:c.1963T>C, NM_001387946.1:c.2128T>C, NM_001388003.1:c.1942T>C, NM_001388002.1:c.1939T>C, NM_001387943.1:c.2128T>C, XM_047419347.1:c.2071T>C, XM_047419348.1:c.1966T>C, NM_001387942.1:c.1963T>C, NM_001388001.1:c.2020T>C, NM_001387940.1:c.2020T>C, NM_001388000.1:c.2017T>C, NM_001387999.1:c.2020T>C, NM_001387997.1:c.1966T>C, NM_001388013.1:c.1963T>C, NM_001388020.1:c.2128T>C, NM_001388018.1:c.2020T>C, NM_001388012.1:c.2155T>C, NM_001388017.1:c.2020T>C, NM_001387989.1:c.2128T>C, NM_001388008.1:c.2044T>C, NM_001387961.1:c.2020T>C, NM_001387956.1:c.2020T>C, NM_001388006.1:c.2128T>C, NM_001387944.1:c.1966T>C, NM_001388014.1:c.2020T>C, XM_047419340.1:c.2071T>C, NM_001388016.1:c.2125T>C, XM_047419346.1:c.2071T>C, NM_001387955.1:c.2017T>C, XM_047419349.1:c.1963T>C, NM_001387998.1:c.2017T>C, XM_047419345.1:c.2074T>C, XM_047419339.1:c.2071T>C, NP_542434.1:p.Ser674Pro, NP_542433.1:p.Ser674Pro, NP_001092004.1:p.Ser674Pro, XP_016866786.1:p.Ser691Pro, NP_001186627.1:p.Ser674Pro, XP_016866785.1:p.Ser673Pro, NP_001374883.1:p.Ser710Pro, NP_001374948.1:p.Ser709Pro, NP_001374925.1:p.Ser710Pro, NP_001374924.1:p.Ser709Pro, NP_001374923.1:p.Ser710Pro, NP_001374922.1:p.Ser709Pro, NP_001374921.1:p.Ser692Pro, NP_001374920.1:p.Ser692Pro, NP_001374919.1:p.Ser673Pro, NP_001374917.1:p.Ser709Pro, NP_001374940.1:p.Ser710Pro, NP_001374939.1:p.Ser709Pro, NP_001374916.1:p.Ser673Pro, NP_001374915.1:p.Ser674Pro, NP_001374914.1:p.Ser719Pro, NP_001374913.1:p.Ser710Pro, NP_001374912.1:p.Ser709Pro, NP_001374911.1:p.Ser656Pro, XP_047275298.1:p.Ser655Pro, NP_001374894.1:p.Ser710Pro, XP_047275294.1:p.Ser692Pro, XP_047275297.1:p.Ser709Pro, NP_001374893.1:p.Ser656Pro, NP_001374892.1:p.Ser655Pro, NP_001374938.1:p.Ser683Pro, XP_047275300.1:p.Ser692Pro, NP_001374887.1:p.Ser692Pro, NP_001374936.1:p.Ser673Pro, NP_001374934.1:p.Ser709Pro, NP_001374880.1:p.Ser674Pro, NP_001374944.1:p.Ser674Pro, NP_001374878.1:p.Ser673Pro, NP_001374933.1:p.Ser656Pro, XP_047275299.1:p.Ser655Pro, NP_001374875.1:p.Ser710Pro, NP_001374932.1:p.Ser648Pro, NP_001374931.1:p.Ser647Pro, NP_001374872.1:p.Ser710Pro, XP_047275303.1:p.Ser691Pro, XP_047275304.1:p.Ser656Pro, NP_001374871.1:p.Ser655Pro, NP_001374930.1:p.Ser674Pro, NP_001374869.1:p.Ser674Pro, NP_001374929.1:p.Ser673Pro, NP_001374928.1:p.Ser674Pro, NP_001374926.1:p.Ser656Pro, NP_001374942.1:p.Ser655Pro, NP_001374949.1:p.Ser710Pro, NP_001374947.1:p.Ser674Pro, NP_001374941.1:p.Ser719Pro, NP_001374946.1:p.Ser674Pro, NP_001374918.1:p.Ser710Pro, NP_001374937.1:p.Ser682Pro, NP_001374890.1:p.Ser674Pro, NP_001374885.1:p.Ser674Pro, NP_001374935.1:p.Ser710Pro, NP_001374873.1:p.Ser656Pro, NP_001374943.1:p.Ser674Pro, XP_047275296.1:p.Ser691Pro, NP_001374945.1:p.Ser709Pro, XP_047275302.1:p.Ser691Pro, NP_001374884.1:p.Ser673Pro, XP_047275305.1:p.Ser655Pro, NP_001374927.1:p.Ser673Pro, XP_047275301.1:p.Ser692Pro, XP_047275295.1:p.Ser691Pro

                              15.

                              rs1478419035 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:31642194 (GRCh38)
                                6:31609971 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:31642193:G:A
                                Gene:
                                BAG6 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000006.12:g.31642194G>A, NC_000006.11:g.31609971G>A, NT_113891.3:g.3119481G>A, NT_113891.2:g.3119587G>A, NT_167248.2:g.2898012G>A, NT_167248.1:g.2903608G>A, NT_167245.2:g.2889957G>A, NT_167245.1:g.2895542G>A, NT_167249.2:g.2941475G>A, NT_167249.1:g.2940773G>A, NT_167246.2:g.2947234G>A, NT_167246.1:g.2952854G>A, NT_167247.2:g.2984073G>A, NT_167247.1:g.2989658G>A, NM_004639.3:c.2163C>T, NM_080703.3:c.2145C>T, NM_080703.2:c.2145C>T, NM_080702.3:c.2145C>T, NM_080702.2:c.2145C>T, NM_001098534.2:c.2145C>T, NM_001098534.1:c.2145C>T, XM_017011297.2:c.2196C>T, XM_017011297.1:c.2196C>T, NM_001199698.2:c.2145C>T, NM_001199698.1:c.2145C>T, XM_017011296.2:c.2142C>T, XM_017011296.1:c.2142C>T, NM_001199697.2:c.1767C>T, NM_001199697.1:c.1767C>T, NM_001387992.1:c.2199C>T, NM_001387991.1:c.2199C>T, NM_001387990.1:c.2142C>T, NM_001387983.1:c.2250C>T, NM_001387982.1:c.2091C>T, NM_001387964.1:c.2091C>T, NM_001387963.1:c.2088C>T, NM_001388009.1:c.2172C>T, XM_047419344.1:c.2199C>T, NM_001387958.1:c.2199C>T, NM_001387954.1:c.2253C>T, NM_001388004.1:c.2091C>T, NM_001388003.1:c.2067C>T, NM_001388002.1:c.2064C>T, NM_001387942.1:c.2088C>T, NM_001388001.1:c.2145C>T, NM_001387997.1:c.2091C>T, NM_001387993.1:c.2250C>T, NM_001388018.1:c.2145C>T, NM_001388012.1:c.2280C>T, NM_001387989.1:c.2253C>T, NM_001388008.1:c.2169C>T, NM_001388011.1:c.2253C>T, NM_001387956.1:c.2145C>T, NM_001388005.1:c.2250C>T, NM_001388019.1:c.2250C>T, NM_001387996.1:c.2253C>T, NM_001387995.1:c.2250C>T, NM_001387994.1:c.2253C>T, XM_047419340.1:c.2196C>T, NM_001388017.1:c.2145C>T, NM_001388016.1:c.2250C>T, NM_001387988.1:c.2250C>T, NM_001388010.1:c.2250C>T, NM_001387987.1:c.2142C>T, NM_001387986.1:c.2145C>T, NM_001387985.1:c.2280C>T, NM_001387984.1:c.2253C>T, XM_047419342.1:c.2088C>T, NM_001387965.1:c.2253C>T, XM_047419338.1:c.2199C>T, XM_047419341.1:c.2250C>T, XM_047419346.1:c.2196C>T, NM_001387961.1:c.2145C>T, NM_001388007.1:c.2142C>T, NM_001387955.1:c.2142C>T, NM_001388006.1:c.2253C>T, NM_001387951.1:c.2145C>T, NM_001388015.1:c.2145C>T, NM_001387949.1:c.2142C>T, XM_047419343.1:c.2088C>T, NM_001387946.1:c.2253C>T, XM_047419349.1:c.2088C>T, NM_001387943.1:c.2253C>T, XM_047419345.1:c.2199C>T, XM_047419347.1:c.2196C>T, XM_047419348.1:c.2091C>T, NM_001387940.1:c.2145C>T, NM_001388000.1:c.2142C>T, NM_001387999.1:c.2145C>T, NM_001387998.1:c.2142C>T, NM_001388014.1:c.2145C>T, NM_001388013.1:c.2088C>T, NM_001388020.1:c.2253C>T, NM_001387944.1:c.2091C>T, XM_047419339.1:c.2196C>T

                                16.

                                rs1477495735 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  6:31648689 (GRCh38)
                                  6:31616466 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:31648688:T:G
                                  Gene:
                                  BAG6 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.31648689T>G, NC_000006.11:g.31616466T>G, NT_113891.3:g.3125979T>G, NT_113891.2:g.3126085T>G, NT_167248.2:g.2904510T>G, NT_167248.1:g.2910106T>G, NT_167245.2:g.2896456T>G, NT_167245.1:g.2902041T>G, NT_167249.2:g.2947973T>G, NT_167249.1:g.2947271T>G, NT_167246.2:g.2953735T>G, NT_167246.1:g.2959355T>G, NT_167247.2:g.2990555T>G, NT_167247.1:g.2996140T>G, NM_004639.3:c.540A>C, NM_080703.3:c.540A>C, NM_080703.2:c.540A>C, NM_080702.3:c.540A>C, NM_080702.2:c.540A>C, NM_001098534.2:c.540A>C, NM_001098534.1:c.540A>C, XM_017011297.2:c.486A>C, XM_017011297.1:c.486A>C, NM_001199698.2:c.540A>C, NM_001199698.1:c.540A>C, XM_017011296.2:c.540A>C, XM_017011296.1:c.540A>C, NM_001199697.2:c.540A>C, NM_001199697.1:c.540A>C, NM_001387992.1:c.486A>C, NM_001387991.1:c.486A>C, NM_001387990.1:c.540A>C, NM_001387983.1:c.540A>C, NM_001387982.1:c.486A>C, NM_001387964.1:c.486A>C, NM_001387963.1:c.486A>C, NM_001388009.1:c.540A>C, XM_047419344.1:c.486A>C, NM_001387958.1:c.486A>C, NM_001387954.1:c.540A>C, NM_001388004.1:c.486A>C, NM_001388003.1:c.540A>C, NM_001388002.1:c.540A>C, NM_001387942.1:c.486A>C, NM_001388001.1:c.540A>C, NM_001387997.1:c.486A>C, NM_001387993.1:c.540A>C, NM_001388018.1:c.540A>C, NM_001388012.1:c.540A>C, NM_001387989.1:c.540A>C, NM_001388008.1:c.540A>C, NM_001388011.1:c.540A>C, NM_001387956.1:c.540A>C, NM_001388005.1:c.540A>C, NM_001388019.1:c.540A>C, NM_001387996.1:c.540A>C, NM_001387995.1:c.540A>C, NM_001387994.1:c.540A>C, XM_047419340.1:c.486A>C, NM_001388017.1:c.540A>C, NM_001388016.1:c.540A>C, NM_001387988.1:c.540A>C, NM_001388010.1:c.540A>C, NM_001387987.1:c.540A>C, NM_001387986.1:c.540A>C, NM_001387985.1:c.540A>C, NM_001387984.1:c.540A>C, XM_047419342.1:c.486A>C, NM_001387965.1:c.540A>C, XM_047419338.1:c.486A>C, XM_047419341.1:c.540A>C, XM_047419346.1:c.486A>C, NM_001387961.1:c.540A>C, NM_001388007.1:c.540A>C, NM_001387955.1:c.540A>C, NM_001388006.1:c.540A>C, NM_001387951.1:c.540A>C, NM_001388015.1:c.540A>C, NM_001387949.1:c.540A>C, XM_047419343.1:c.486A>C, NM_001387946.1:c.540A>C, XM_047419349.1:c.486A>C, NM_001387943.1:c.540A>C, XM_047419345.1:c.486A>C, XM_047419347.1:c.486A>C, XM_047419348.1:c.486A>C, NM_001387940.1:c.540A>C, NM_001388000.1:c.540A>C, NM_001387999.1:c.540A>C, NM_001387998.1:c.540A>C, NM_001388014.1:c.540A>C, NM_001388013.1:c.486A>C, NM_001388020.1:c.540A>C, NM_001387944.1:c.486A>C, XM_047419339.1:c.486A>C

                                  17.

                                  rs1476457319 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    6:31640894 (GRCh38)
                                    6:31608671 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:31640893:C:A
                                    Gene:
                                    BAG6 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    NC_000006.12:g.31640894C>A, NC_000006.11:g.31608671C>A, NT_113891.3:g.3118181C>A, NT_113891.2:g.3118287C>A, NT_167248.2:g.2896712C>A, NT_167248.1:g.2902308C>A, NT_167245.2:g.2888657C>A, NT_167245.1:g.2894242C>A, NT_167249.2:g.2940175C>A, NT_167249.1:g.2939473C>A, NT_167246.2:g.2945934C>A, NT_167246.1:g.2951554C>A, NT_167247.2:g.2982773C>A, NT_167247.1:g.2988358C>A, NM_004639.3:c.2742G>T, NM_080703.3:c.2724G>T, NM_080703.2:c.2724G>T, NM_080702.3:c.2724G>T, NM_080702.2:c.2724G>T, NM_001098534.2:c.2724G>T, NM_001098534.1:c.2724G>T, XM_017011297.2:c.2775G>T, XM_017011297.1:c.2775G>T, NM_001199698.2:c.2724G>T, NM_001199698.1:c.2724G>T, XM_017011296.2:c.2721G>T, XM_017011296.1:c.2721G>T, NM_001199697.2:c.2346G>T, NM_001199697.1:c.2346G>T, NM_001388019.1:c.2829G>T, NM_001387996.1:c.2832G>T, NM_001387995.1:c.2829G>T, NM_001387994.1:c.2832G>T, NM_001387993.1:c.2829G>T, NM_001387992.1:c.2778G>T, NM_001388018.1:c.2724G>T, NM_001387991.1:c.2778G>T, NM_001387990.1:c.2721G>T, NM_001387989.1:c.2832G>T, NM_001387988.1:c.2829G>T, NM_001388011.1:c.2832G>T, NM_001388010.1:c.2829G>T, NM_001387987.1:c.2721G>T, NM_001387986.1:c.2724G>T, NM_001387985.1:c.2859G>T, NM_001387984.1:c.2832G>T, NM_001387983.1:c.2829G>T, NM_001387982.1:c.2670G>T, XM_047419342.1:c.2667G>T, NM_001387965.1:c.2832G>T, XM_047419338.1:c.2778G>T, XM_047419341.1:c.2829G>T, NM_001387964.1:c.2670G>T, NM_001387963.1:c.2667G>T, NM_001388009.1:c.2751G>T, XM_047419344.1:c.2778G>T, NM_001387958.1:c.2778G>T, NM_001388007.1:c.2721G>T, NM_001387955.1:c.2721G>T, NM_001387954.1:c.2832G>T, NM_001388005.1:c.2829G>T, NM_001387951.1:c.2724G>T, NM_001388015.1:c.2724G>T, NM_001387949.1:c.2721G>T, NM_001388004.1:c.2670G>T, XM_047419343.1:c.2667G>T, NM_001387946.1:c.2832G>T, NM_001388003.1:c.2646G>T, NM_001388002.1:c.2643G>T, NM_001387943.1:c.2832G>T, XM_047419347.1:c.2775G>T, XM_047419348.1:c.2670G>T, NM_001387942.1:c.2667G>T, NM_001388001.1:c.2724G>T, NM_001387940.1:c.2724G>T, NM_001388000.1:c.2721G>T, NM_001387999.1:c.2724G>T, NM_001387997.1:c.2670G>T, NM_001388013.1:c.2667G>T, NM_001388012.1:c.2859G>T, NM_001388017.1:c.2724G>T, NM_001388008.1:c.2748G>T, NM_001387961.1:c.2724G>T, NM_001387956.1:c.2724G>T, NM_001388006.1:c.2832G>T, NM_001387944.1:c.2670G>T, NM_001388014.1:c.2724G>T, XM_047419340.1:c.2775G>T, NM_001388016.1:c.2829G>T, XM_047419346.1:c.2775G>T, XM_047419349.1:c.2667G>T, XM_047419345.1:c.2778G>T, NM_001387998.1:c.2721G>T, NM_001388020.1:c.2832G>T, XM_047419339.1:c.2775G>T

                                    18.

                                    rs1475995402 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      6:31640866 (GRCh38)
                                      6:31608643 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:31640865:C:A
                                      Gene:
                                      BAG6 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000111/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.31640866C>A, NC_000006.11:g.31608643C>A, NT_113891.3:g.3118153C>A, NT_113891.2:g.3118259C>A, NT_167248.2:g.2896684C>A, NT_167248.1:g.2902280C>A, NT_167245.2:g.2888629C>A, NT_167245.1:g.2894214C>A, NT_167249.2:g.2940147C>A, NT_167249.1:g.2939445C>A, NT_167246.2:g.2945906C>A, NT_167246.1:g.2951526C>A, NT_167247.2:g.2982745C>A, NT_167247.1:g.2988330C>A, NM_004639.3:c.2770G>T, NM_080703.3:c.2752G>T, NM_080703.2:c.2752G>T, NM_080702.3:c.2752G>T, NM_080702.2:c.2752G>T, NM_001098534.2:c.2752G>T, NM_001098534.1:c.2752G>T, XM_017011297.2:c.2803G>T, XM_017011297.1:c.2803G>T, NM_001199698.2:c.2752G>T, NM_001199698.1:c.2752G>T, XM_017011296.2:c.2749G>T, XM_017011296.1:c.2749G>T, NM_001199697.2:c.2374G>T, NM_001199697.1:c.2374G>T, NM_001387992.1:c.2806G>T, NM_001387991.1:c.2806G>T, NM_001387990.1:c.2749G>T, NM_001387983.1:c.2857G>T, NM_001387982.1:c.2698G>T, XM_047419342.1:c.2695G>T, NM_001387965.1:c.2860G>T, XM_047419338.1:c.2806G>T, XM_047419341.1:c.2857G>T, NM_001387964.1:c.2698G>T, NM_001387963.1:c.2695G>T, NM_001388009.1:c.2779G>T, XM_047419344.1:c.2806G>T, NM_001388008.1:c.2776G>T, XM_047419346.1:c.2803G>T, NM_001387961.1:c.2752G>T, NM_001387958.1:c.2806G>T, NM_001387955.1:c.2749G>T, NM_001387954.1:c.2860G>T, NM_001388004.1:c.2698G>T, XM_047419343.1:c.2695G>T, NM_001387946.1:c.2860G>T, NM_001388003.1:c.2674G>T, NM_001388002.1:c.2671G>T, XM_047419349.1:c.2695G>T, NM_001387942.1:c.2695G>T, NM_001388001.1:c.2752G>T, NM_001387940.1:c.2752G>T, NM_001388014.1:c.2752G>T, NM_001387997.1:c.2698G>T, NM_001388020.1:c.2860G>T, NM_001388019.1:c.2857G>T, NM_001387995.1:c.2857G>T, NM_001387993.1:c.2857G>T, NM_001388018.1:c.2752G>T, NM_001388012.1:c.2887G>T, NM_001388017.1:c.2752G>T, NM_001388016.1:c.2857G>T, NM_001387989.1:c.2860G>T, NM_001388011.1:c.2860G>T, NM_001388010.1:c.2857G>T, NM_001387986.1:c.2752G>T, NM_001387956.1:c.2752G>T, NM_001388005.1:c.2857G>T, NM_001388015.1:c.2752G>T, NM_001388000.1:c.2749G>T, NM_001387996.1:c.2860G>T, NM_001387994.1:c.2860G>T, XM_047419340.1:c.2803G>T, XM_047419339.1:c.2803G>T, NM_001387988.1:c.2857G>T, NM_001387987.1:c.2749G>T, NM_001387985.1:c.2887G>T, NM_001387984.1:c.2860G>T, NM_001388007.1:c.2749G>T, NM_001388006.1:c.2860G>T, NM_001387951.1:c.2752G>T, NM_001387949.1:c.2749G>T, NM_001387944.1:c.2698G>T, NM_001387943.1:c.2860G>T, XM_047419345.1:c.2806G>T, XM_047419348.1:c.2698G>T, NM_001387999.1:c.2752G>T, NM_001387998.1:c.2749G>T, NM_001388013.1:c.2695G>T, XM_047419347.1:c.2803G>T, NP_542434.1:p.Val918Leu, NP_542433.1:p.Val918Leu, NP_001092004.1:p.Val918Leu, XP_016866786.1:p.Val935Leu, NP_001186627.1:p.Val918Leu, XP_016866785.1:p.Val917Leu, NP_001186626.1:p.Val792Leu, NP_001374921.1:p.Val936Leu, NP_001374920.1:p.Val936Leu, NP_001374919.1:p.Val917Leu, NP_001374912.1:p.Val953Leu, NP_001374911.1:p.Val900Leu, XP_047275298.1:p.Val899Leu, NP_001374894.1:p.Val954Leu, XP_047275294.1:p.Val936Leu, XP_047275297.1:p.Val953Leu, NP_001374893.1:p.Val900Leu, NP_001374892.1:p.Val899Leu, NP_001374938.1:p.Val927Leu, XP_047275300.1:p.Val936Leu, NP_001374937.1:p.Val926Leu, XP_047275302.1:p.Val935Leu, NP_001374890.1:p.Val918Leu, NP_001374887.1:p.Val936Leu, NP_001374884.1:p.Val917Leu, NP_001374883.1:p.Val954Leu, NP_001374933.1:p.Val900Leu, XP_047275299.1:p.Val899Leu, NP_001374875.1:p.Val954Leu, NP_001374932.1:p.Val892Leu, NP_001374931.1:p.Val891Leu, XP_047275305.1:p.Val899Leu, NP_001374871.1:p.Val899Leu, NP_001374930.1:p.Val918Leu, NP_001374869.1:p.Val918Leu, NP_001374943.1:p.Val918Leu, NP_001374926.1:p.Val900Leu, NP_001374949.1:p.Val954Leu, NP_001374948.1:p.Val953Leu, NP_001374924.1:p.Val953Leu, NP_001374922.1:p.Val953Leu, NP_001374947.1:p.Val918Leu, NP_001374941.1:p.Val963Leu, NP_001374946.1:p.Val918Leu, NP_001374945.1:p.Val953Leu, NP_001374918.1:p.Val954Leu, NP_001374940.1:p.Val954Leu, NP_001374939.1:p.Val953Leu, NP_001374915.1:p.Val918Leu, NP_001374885.1:p.Val918Leu, NP_001374934.1:p.Val953Leu, NP_001374944.1:p.Val918Leu, NP_001374929.1:p.Val917Leu, NP_001374925.1:p.Val954Leu, NP_001374923.1:p.Val954Leu, XP_047275296.1:p.Val935Leu, XP_047275295.1:p.Val935Leu, NP_001374917.1:p.Val953Leu, NP_001374916.1:p.Val917Leu, NP_001374914.1:p.Val963Leu, NP_001374913.1:p.Val954Leu, NP_001374936.1:p.Val917Leu, NP_001374935.1:p.Val954Leu, NP_001374880.1:p.Val918Leu, NP_001374878.1:p.Val917Leu, NP_001374873.1:p.Val900Leu, NP_001374872.1:p.Val954Leu, XP_047275301.1:p.Val936Leu, XP_047275304.1:p.Val900Leu, NP_001374928.1:p.Val918Leu, NP_001374927.1:p.Val917Leu, NP_001374942.1:p.Val899Leu, XP_047275303.1:p.Val935Leu

                                      19.

                                      rs1475123129 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        6:31643051 (GRCh38)
                                        6:31610828 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:31643050:G:T
                                        Gene:
                                        BAG6 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,intron_variant
                                        HGVS:
                                        NC_000006.12:g.31643051G>T, NC_000006.11:g.31610828G>T, NT_113891.3:g.3120338G>T, NT_113891.2:g.3120444G>T, NT_167248.2:g.2898869G>T, NT_167248.1:g.2904465G>T, NT_167245.2:g.2890810G>T, NT_167245.1:g.2896395G>T, NT_167249.2:g.2942332G>T, NT_167249.1:g.2941630G>T, NT_167246.2:g.2948087G>T, NT_167246.1:g.2953707G>T, NT_167247.2:g.2984926G>T, NT_167247.1:g.2990511G>T, NM_004639.3:c.1731C>A, NM_080703.3:c.1713C>A, NM_080703.2:c.1713C>A, NM_080702.3:c.1713C>A, NM_080702.2:c.1713C>A, NM_001098534.2:c.1713C>A, NM_001098534.1:c.1713C>A, XM_017011297.2:c.1764C>A, XM_017011297.1:c.1764C>A, NM_001199698.2:c.1713C>A, NM_001199698.1:c.1713C>A, XM_017011296.2:c.1710C>A, XM_017011296.1:c.1710C>A, NM_001387992.1:c.1767C>A, NM_001387991.1:c.1767C>A, NM_001387990.1:c.1710C>A, NM_001387983.1:c.1818C>A, NM_001387982.1:c.1659C>A, XM_047419342.1:c.1656C>A, NM_001387965.1:c.1821C>A, XM_047419338.1:c.1767C>A, XM_047419341.1:c.1818C>A, NM_001387964.1:c.1659C>A, NM_001387963.1:c.1656C>A, NM_001388009.1:c.1740C>A, XM_047419344.1:c.1767C>A, NM_001388008.1:c.1737C>A, XM_047419346.1:c.1764C>A, NM_001387961.1:c.1713C>A, NM_001387958.1:c.1767C>A, NM_001387954.1:c.1821C>A, NM_001388004.1:c.1659C>A, XM_047419343.1:c.1656C>A, NM_001387946.1:c.1821C>A, NM_001388003.1:c.1635C>A, NM_001388002.1:c.1632C>A, XM_047419349.1:c.1656C>A, NM_001387942.1:c.1656C>A, NM_001388001.1:c.1713C>A, NM_001387940.1:c.1713C>A, NM_001388014.1:c.1713C>A, NM_001387997.1:c.1659C>A, NM_001388020.1:c.1821C>A, NM_001388019.1:c.1818C>A, NM_001387995.1:c.1818C>A, NM_001387993.1:c.1818C>A, NM_001388018.1:c.1713C>A, NM_001388012.1:c.1848C>A, NM_001388017.1:c.1713C>A, NM_001388016.1:c.1818C>A, NM_001387989.1:c.1821C>A, NM_001388011.1:c.1821C>A, NM_001388010.1:c.1818C>A, NM_001387986.1:c.1713C>A, NM_001387956.1:c.1713C>A, NM_001388005.1:c.1818C>A, NM_001388015.1:c.1713C>A, NM_001388000.1:c.1710C>A, NM_001387996.1:c.1821C>A, NM_001387994.1:c.1821C>A, XM_047419340.1:c.1764C>A, XM_047419339.1:c.1764C>A, NM_001387988.1:c.1818C>A, NM_001387987.1:c.1710C>A, NM_001387985.1:c.1848C>A, NM_001387984.1:c.1821C>A, NM_001388007.1:c.1710C>A, NM_001387955.1:c.1710C>A, NM_001388006.1:c.1821C>A, NM_001387951.1:c.1713C>A, NM_001387949.1:c.1710C>A, NM_001387943.1:c.1821C>A, XM_047419345.1:c.1767C>A, XM_047419348.1:c.1659C>A, NM_001387999.1:c.1713C>A, NM_001387998.1:c.1710C>A, NM_001388013.1:c.1656C>A, NM_001387944.1:c.1659C>A, XM_047419347.1:c.1764C>A

                                        20.

                                        rs1475028115 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          6:31651659 (GRCh38)
                                          6:31619436 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:31651658:G:T
                                          Gene:
                                          BAG6 (Varview), APOM (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.31651659G>T, NC_000006.11:g.31619436G>T, NT_113891.3:g.3128949G>T, NT_113891.2:g.3129055G>T, NT_167248.2:g.2907470G>T, NT_167248.1:g.2913066G>T, NT_167245.2:g.2899426G>T, NT_167245.1:g.2905011G>T, NT_167249.2:g.2950933G>T, NT_167249.1:g.2950231G>T, NT_167246.2:g.2956705G>T, NT_167246.1:g.2962325G>T, NT_167247.2:g.2993525G>T, NT_167247.1:g.2999110G>T, NM_004639.3:c.105C>A, NM_080703.3:c.105C>A, NM_080703.2:c.105C>A, NM_080702.3:c.105C>A, NM_080702.2:c.105C>A, NM_001098534.2:c.105C>A, NM_001098534.1:c.105C>A, XM_017011297.2:c.105C>A, XM_017011297.1:c.105C>A, NM_001199698.2:c.105C>A, NM_001199698.1:c.105C>A, XM_017011296.2:c.105C>A, XM_017011296.1:c.105C>A, NM_001199697.2:c.105C>A, NM_001199697.1:c.105C>A, NM_001388019.1:c.105C>A, NM_001387996.1:c.105C>A, NM_001387995.1:c.105C>A, NM_001387994.1:c.105C>A, NM_001387993.1:c.105C>A, NM_001387992.1:c.105C>A, XM_047419340.1:c.105C>A, NM_001388018.1:c.105C>A, NM_001387991.1:c.105C>A, NM_001388016.1:c.105C>A, NM_001387990.1:c.105C>A, NM_001387988.1:c.105C>A, NM_001388011.1:c.105C>A, NM_001388010.1:c.105C>A, NM_001387987.1:c.105C>A, NM_001387986.1:c.105C>A, NM_001387985.1:c.105C>A, NM_001387984.1:c.105C>A, NM_001387983.1:c.105C>A, NM_001387982.1:c.105C>A, NM_001387964.1:c.105C>A, NM_001387963.1:c.105C>A, NM_001388009.1:c.105C>A, XM_047419344.1:c.105C>A, NM_001387958.1:c.105C>A, NM_001388007.1:c.105C>A, NM_001387956.1:c.105C>A, NM_001387954.1:c.105C>A, NM_001388006.1:c.105C>A, NM_001388005.1:c.105C>A, NM_001387951.1:c.105C>A, NM_001388015.1:c.105C>A, NM_001387949.1:c.105C>A, NM_001388004.1:c.105C>A, NM_001388003.1:c.105C>A, NM_001388002.1:c.105C>A, NM_001387943.1:c.105C>A, XM_047419345.1:c.105C>A, XM_047419347.1:c.105C>A, XM_047419348.1:c.105C>A, NM_001387942.1:c.105C>A, NM_001388001.1:c.105C>A, NM_001388000.1:c.105C>A, NM_001387999.1:c.105C>A, NM_001387998.1:c.105C>A, NM_001387997.1:c.105C>A, NM_001388013.1:c.105C>A, NM_001387989.1:c.105C>A, NM_001388012.1:c.105C>A, NM_001387965.1:c.105C>A, NM_001388008.1:c.105C>A, NM_001387961.1:c.105C>A, NM_001387955.1:c.105C>A, NM_001387946.1:c.105C>A, NM_001387944.1:c.105C>A, NM_001387940.1:c.105C>A, NM_001388014.1:c.105C>A, XM_047419346.1:c.105C>A, XM_047419349.1:c.105C>A, NM_001388020.1:c.105C>A, NM_001388017.1:c.105C>A, XM_047419342.1:c.105C>A, XM_047419338.1:c.105C>A, XM_047419341.1:c.105C>A, XM_047419343.1:c.105C>A, XM_047419339.1:c.105C>A

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