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Items: 1 to 20 of 481

1.

rs1490544144 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    10:27208388 (GRCh38)
    10:27497317 (GRCh37)
    Canonical SPDI:
    NC_000010.11:27208387:C:T
    Gene:
    ACBD5 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000010.11:g.27208388C>T, NC_000010.10:g.27497317C>T, NG_032960.3:g.45287G>A, NM_145698.5:c.1262G>A, NM_145698.4:c.1262G>A, NM_145698.3:c.1262G>A, NM_001042473.4:c.1157G>A, NM_001042473.3:c.1157G>A, NM_001042473.2:c.1157G>A, NM_001271512.3:c.1256G>A, NM_001271512.2:c.1256G>A, NM_001271512.1:c.1256G>A, NM_001352579.2:c.1157G>A, NM_001352579.1:c.1157G>A, NM_001352574.2:c.1190G>A, NM_001352574.1:c.1190G>A, NM_001352575.2:c.1190G>A, NM_001352575.1:c.1190G>A, NM_001352576.2:c.1190G>A, NM_001352576.1:c.1190G>A, NM_001352577.2:c.1157G>A, NM_001352577.1:c.1157G>A, NM_001352578.2:c.1157G>A, NM_001352578.1:c.1157G>A, NM_001352580.2:c.1103G>A, NM_001352580.1:c.1103G>A, NM_001301251.2:c.935G>A, NM_001301251.1:c.935G>A, NM_001301253.2:c.935G>A, NM_001301253.1:c.935G>A, NM_001301252.2:c.935G>A, NM_001301252.1:c.935G>A, NM_001352582.2:c.953G>A, NM_001352582.1:c.953G>A, NM_001301254.2:c.731G>A, NM_001301254.1:c.731G>A, NM_001352571.1:c.1289G>A, NM_001352569.1:c.1295G>A, NM_001352568.1:c.1316G>A, NM_001352586.1:c.1085G>A, NM_001352572.1:c.1283G>A, NM_001352587.1:c.1052G>A, NM_001352573.1:c.1241G>A, NM_001352585.1:c.968G>A, NM_001352584.1:c.935G>A, NM_001352583.1:c.935G>A, NM_001352581.1:c.1091G>A, NM_001352588.1:c.1058G>A, NM_001352570.1:c.1262G>A, XM_017016894.3:c.953G>A, XM_017016894.2:c.1250G>A, XM_017016894.1:c.1250G>A, XM_017016888.3:c.1295G>A, XM_017016888.2:c.1295G>A, XM_017016888.1:c.1295G>A, XM_017016887.3:c.1316G>A, XM_017016887.2:c.1316G>A, XM_017016887.1:c.1316G>A, XM_017016889.3:c.1283G>A, XM_017016889.2:c.1283G>A, XM_017016889.1:c.1283G>A, XM_017016895.3:c.1190G>A, XM_017016895.2:c.1190G>A, XM_017016895.1:c.1190G>A, XM_017016884.3:c.1190G>A, XM_017016884.2:c.1487G>A, XM_017016884.1:c.1487G>A, XM_017016885.3:c.1157G>A, XM_017016885.2:c.1454G>A, XM_017016885.1:c.1454G>A, XM_017016898.3:c.1058G>A, XM_017016898.2:c.1058G>A, XM_017016898.1:c.1058G>A, XM_017016890.3:c.986G>A, XM_017016890.2:c.1283G>A, XM_017016890.1:c.1283G>A, XM_017016893.3:c.953G>A, XM_017016893.2:c.1250G>A, XM_017016893.1:c.1250G>A, NR_073197.2:n.1521G>A, NR_073196.2:n.1317G>A, XM_024448249.2:c.1079G>A, XM_024448249.1:c.1079G>A, XM_017016896.2:c.1157G>A, XM_017016896.1:c.1157G>A, XM_024448248.2:c.1091G>A, XM_024448248.1:c.1091G>A, XM_047425995.1:c.1265G>A, NR_073197.1:n.1521G>A, NR_073196.1:n.1317G>A, XM_047425996.1:c.1112G>A, NR_024150.1:n.1207G>A, NR_073195.1:n.1197G>A, XM_047425994.1:c.986G>A, XM_047425993.1:c.1298G>A, NP_663736.2:p.Gly421Asp, NP_001035938.1:p.Gly386Asp, NP_001258441.1:p.Gly419Asp, NP_001339508.1:p.Gly386Asp, NP_001339503.1:p.Gly397Asp, NP_001339504.1:p.Gly397Asp, NP_001339505.1:p.Gly397Asp, NP_001339506.1:p.Gly386Asp, NP_001339507.1:p.Gly386Asp, NP_001339509.1:p.Gly368Asp, NP_001288180.1:p.Gly312Asp, NP_001288182.1:p.Gly312Asp, NP_001288181.1:p.Gly312Asp, NP_001339511.1:p.Gly318Asp, NP_001288183.1:p.Gly244Asp, NP_001339500.1:p.Gly430Asp, NP_001339498.1:p.Gly432Asp, NP_001339497.1:p.Gly439Asp, NP_001339515.1:p.Gly362Asp, NP_001339501.1:p.Gly428Asp, NP_001339516.1:p.Gly351Asp, NP_001339502.1:p.Gly414Asp, NP_001339514.1:p.Gly323Asp, NP_001339513.1:p.Gly312Asp, NP_001339512.1:p.Gly312Asp, NP_001339510.1:p.Gly364Asp, NP_001339517.1:p.Gly353Asp, NP_001339499.1:p.Gly421Asp, XP_016872383.2:p.Gly318Asp, XP_016872377.1:p.Gly432Asp, XP_016872376.1:p.Gly439Asp, XP_016872378.1:p.Gly428Asp, XP_016872384.1:p.Gly397Asp, XP_016872373.2:p.Gly397Asp, XP_016872374.2:p.Gly386Asp, XP_016872387.1:p.Gly353Asp, XP_016872379.2:p.Gly329Asp, XP_016872382.2:p.Gly318Asp, XP_024304017.1:p.Gly360Asp, XP_016872385.1:p.Gly386Asp, XP_024304016.1:p.Gly364Asp, XP_047281951.1:p.Gly422Asp, XP_047281952.1:p.Gly371Asp, XP_047281950.1:p.Gly329Asp, XP_047281949.1:p.Gly433Asp

    2.

    rs1487362643 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      10:27219832 (GRCh38)
      10:27508761 (GRCh37)
      Canonical SPDI:
      NC_000010.11:27219831:A:C
      Gene:
      ACBD5 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000010.11:g.27219832A>C, NC_000010.10:g.27508761A>C, NG_032960.3:g.33843T>G, NM_145698.5:c.516T>G, NM_145698.4:c.516T>G, NM_145698.3:c.516T>G, NM_001042473.4:c.411T>G, NM_001042473.3:c.411T>G, NM_001042473.2:c.411T>G, NM_001271512.3:c.510T>G, NM_001271512.2:c.510T>G, NM_001271512.1:c.510T>G, NM_001352579.2:c.411T>G, NM_001352579.1:c.411T>G, NM_001352574.2:c.444T>G, NM_001352574.1:c.444T>G, NM_001352575.2:c.444T>G, NM_001352575.1:c.444T>G, NM_001352576.2:c.444T>G, NM_001352576.1:c.444T>G, NM_001352577.2:c.411T>G, NM_001352577.1:c.411T>G, NM_001352578.2:c.411T>G, NM_001352578.1:c.411T>G, NM_001301251.2:c.189T>G, NM_001301251.1:c.189T>G, NM_001301253.2:c.189T>G, NM_001301253.1:c.189T>G, NM_001301252.2:c.189T>G, NM_001301252.1:c.189T>G, NM_001352582.2:c.411T>G, NM_001352582.1:c.411T>G, NM_001301254.2:c.189T>G, NM_001301254.1:c.189T>G, NM_001352571.1:c.543T>G, NM_001352569.1:c.549T>G, NM_001352568.1:c.570T>G, NM_001352586.1:c.543T>G, NM_001352572.1:c.537T>G, NM_001352587.1:c.510T>G, NM_001352585.1:c.222T>G, NM_001352584.1:c.189T>G, NM_001352583.1:c.189T>G, NM_001352581.1:c.549T>G, NM_001352588.1:c.516T>G, NM_001352570.1:c.516T>G, XM_017016894.3:c.411T>G, XM_017016894.2:c.708T>G, XM_017016894.1:c.708T>G, XM_017016888.3:c.549T>G, XM_017016888.2:c.549T>G, XM_017016888.1:c.549T>G, XM_017016887.3:c.570T>G, XM_017016887.2:c.570T>G, XM_017016887.1:c.570T>G, XM_017016889.3:c.537T>G, XM_017016889.2:c.537T>G, XM_017016889.1:c.537T>G, XM_017016895.3:c.444T>G, XM_017016895.2:c.444T>G, XM_017016895.1:c.444T>G, XM_017016884.3:c.444T>G, XM_017016884.2:c.741T>G, XM_017016884.1:c.741T>G, XM_017016885.3:c.411T>G, XM_017016885.2:c.708T>G, XM_017016885.1:c.708T>G, XM_017016898.3:c.516T>G, XM_017016898.2:c.516T>G, XM_017016898.1:c.516T>G, XM_017016890.3:c.444T>G, XM_017016890.2:c.741T>G, XM_017016890.1:c.741T>G, XM_017016893.3:c.411T>G, XM_017016893.2:c.708T>G, XM_017016893.1:c.708T>G, NR_073197.2:n.775T>G, NR_073196.2:n.775T>G, XM_024448249.2:c.537T>G, XM_024448249.1:c.537T>G, XM_017016896.2:c.411T>G, XM_017016896.1:c.411T>G, XM_024448248.2:c.549T>G, XM_024448248.1:c.549T>G, XM_047425995.1:c.519T>G, NR_073197.1:n.775T>G, NR_073196.1:n.775T>G, XM_047425996.1:c.570T>G, NR_024150.1:n.461T>G, NR_073195.1:n.451T>G, XM_047425994.1:c.444T>G, XM_047425993.1:c.552T>G

      3.

      rs1484931626 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        10:27210910 (GRCh38)
        10:27499839 (GRCh37)
        Canonical SPDI:
        NC_000010.11:27210909:G:C
        Gene:
        ACBD5 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.27210910G>C, NC_000010.10:g.27499839G>C, NG_032960.3:g.42765C>G, NM_145698.5:c.1108C>G, NM_145698.4:c.1108C>G, NM_145698.3:c.1108C>G, NM_001042473.4:c.1003C>G, NM_001042473.3:c.1003C>G, NM_001042473.2:c.1003C>G, NM_001271512.3:c.1102C>G, NM_001271512.2:c.1102C>G, NM_001271512.1:c.1102C>G, NM_001352579.2:c.1003C>G, NM_001352579.1:c.1003C>G, NM_001352574.2:c.1036C>G, NM_001352574.1:c.1036C>G, NM_001352575.2:c.1036C>G, NM_001352575.1:c.1036C>G, NM_001352576.2:c.1036C>G, NM_001352576.1:c.1036C>G, NM_001352577.2:c.1003C>G, NM_001352577.1:c.1003C>G, NM_001352578.2:c.1003C>G, NM_001352578.1:c.1003C>G, NM_001352580.2:c.949C>G, NM_001352580.1:c.949C>G, NM_001301251.2:c.781C>G, NM_001301251.1:c.781C>G, NM_001301253.2:c.781C>G, NM_001301253.1:c.781C>G, NM_001301252.2:c.781C>G, NM_001301252.1:c.781C>G, NM_001352582.2:c.799C>G, NM_001352582.1:c.799C>G, NM_001301254.2:c.577C>G, NM_001301254.1:c.577C>G, NM_001352571.1:c.1135C>G, NM_001352569.1:c.1141C>G, NM_001352568.1:c.1162C>G, NM_001352586.1:c.931C>G, NM_001352572.1:c.1129C>G, NM_001352587.1:c.898C>G, NM_001352573.1:c.1087C>G, NM_001352585.1:c.814C>G, NM_001352584.1:c.781C>G, NM_001352583.1:c.781C>G, NM_001352581.1:c.937C>G, NM_001352588.1:c.904C>G, NM_001352570.1:c.1108C>G, XM_017016894.3:c.799C>G, XM_017016894.2:c.1096C>G, XM_017016894.1:c.1096C>G, XM_017016888.3:c.1141C>G, XM_017016888.2:c.1141C>G, XM_017016888.1:c.1141C>G, XM_017016887.3:c.1162C>G, XM_017016887.2:c.1162C>G, XM_017016887.1:c.1162C>G, XM_017016889.3:c.1129C>G, XM_017016889.2:c.1129C>G, XM_017016889.1:c.1129C>G, XM_017016895.3:c.1036C>G, XM_017016895.2:c.1036C>G, XM_017016895.1:c.1036C>G, XM_017016884.3:c.1036C>G, XM_017016884.2:c.1333C>G, XM_017016884.1:c.1333C>G, XM_017016885.3:c.1003C>G, XM_017016885.2:c.1300C>G, XM_017016885.1:c.1300C>G, XM_017016898.3:c.904C>G, XM_017016898.2:c.904C>G, XM_017016898.1:c.904C>G, XM_017016890.3:c.832C>G, XM_017016890.2:c.1129C>G, XM_017016890.1:c.1129C>G, XM_017016893.3:c.799C>G, XM_017016893.2:c.1096C>G, XM_017016893.1:c.1096C>G, NR_073197.2:n.1367C>G, NR_073196.2:n.1163C>G, XM_024448249.2:c.925C>G, XM_024448249.1:c.925C>G, XM_017016896.2:c.1003C>G, XM_017016896.1:c.1003C>G, XM_024448248.2:c.937C>G, XM_024448248.1:c.937C>G, XM_047425995.1:c.1111C>G, NR_073197.1:n.1367C>G, NR_073196.1:n.1163C>G, XM_047425996.1:c.958C>G, NR_024150.1:n.1053C>G, NR_073195.1:n.1043C>G, XM_047425994.1:c.832C>G, XM_047425993.1:c.1144C>G, NP_663736.2:p.His370Asp, NP_001035938.1:p.His335Asp, NP_001258441.1:p.His368Asp, NP_001339508.1:p.His335Asp, NP_001339503.1:p.His346Asp, NP_001339504.1:p.His346Asp, NP_001339505.1:p.His346Asp, NP_001339506.1:p.His335Asp, NP_001339507.1:p.His335Asp, NP_001339509.1:p.His317Asp, NP_001288180.1:p.His261Asp, NP_001288182.1:p.His261Asp, NP_001288181.1:p.His261Asp, NP_001339511.1:p.His267Asp, NP_001288183.1:p.His193Asp, NP_001339500.1:p.His379Asp, NP_001339498.1:p.His381Asp, NP_001339497.1:p.His388Asp, NP_001339515.1:p.His311Asp, NP_001339501.1:p.His377Asp, NP_001339516.1:p.His300Asp, NP_001339502.1:p.His363Asp, NP_001339514.1:p.His272Asp, NP_001339513.1:p.His261Asp, NP_001339512.1:p.His261Asp, NP_001339510.1:p.His313Asp, NP_001339517.1:p.His302Asp, NP_001339499.1:p.His370Asp, XP_016872383.2:p.His267Asp, XP_016872377.1:p.His381Asp, XP_016872376.1:p.His388Asp, XP_016872378.1:p.His377Asp, XP_016872384.1:p.His346Asp, XP_016872373.2:p.His346Asp, XP_016872374.2:p.His335Asp, XP_016872387.1:p.His302Asp, XP_016872379.2:p.His278Asp, XP_016872382.2:p.His267Asp, XP_024304017.1:p.His309Asp, XP_016872385.1:p.His335Asp, XP_024304016.1:p.His313Asp, XP_047281951.1:p.His371Asp, XP_047281952.1:p.His320Asp, XP_047281950.1:p.His278Asp, XP_047281949.1:p.His382Asp

        4.

        rs1483614542 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          10:27235108 (GRCh38)
          10:27524037 (GRCh37)
          Canonical SPDI:
          NC_000010.11:27235107:T:A,NC_000010.11:27235107:T:C
          Gene:
          ACBD5 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000035/1 (TOMMO)
          HGVS:
          NC_000010.11:g.27235108T>A, NC_000010.11:g.27235108T>C, NC_000010.10:g.27524037T>A, NC_000010.10:g.27524037T>C, NG_032960.3:g.18567A>T, NG_032960.3:g.18567A>G, NM_145698.5:c.286A>T, NM_145698.5:c.286A>G, NM_145698.4:c.286A>T, NM_145698.4:c.286A>G, NM_145698.3:c.286A>T, NM_145698.3:c.286A>G, NM_001042473.4:c.181A>T, NM_001042473.4:c.181A>G, NM_001042473.3:c.181A>T, NM_001042473.3:c.181A>G, NM_001042473.2:c.181A>T, NM_001042473.2:c.181A>G, NM_001271512.3:c.280A>T, NM_001271512.3:c.280A>G, NM_001271512.2:c.280A>T, NM_001271512.2:c.280A>G, NM_001271512.1:c.280A>T, NM_001271512.1:c.280A>G, NM_001352579.2:c.181A>T, NM_001352579.2:c.181A>G, NM_001352579.1:c.181A>T, NM_001352579.1:c.181A>G, NM_001352574.2:c.181A>T, NM_001352574.2:c.181A>G, NM_001352574.1:c.181A>T, NM_001352574.1:c.181A>G, NM_001352575.2:c.181A>T, NM_001352575.2:c.181A>G, NM_001352575.1:c.181A>T, NM_001352575.1:c.181A>G, NM_001352576.2:c.181A>T, NM_001352576.2:c.181A>G, NM_001352576.1:c.181A>T, NM_001352576.1:c.181A>G, NM_001352577.2:c.181A>T, NM_001352577.2:c.181A>G, NM_001352577.1:c.181A>T, NM_001352577.1:c.181A>G, NM_001352578.2:c.181A>T, NM_001352578.2:c.181A>G, NM_001352578.1:c.181A>T, NM_001352578.1:c.181A>G, NM_001352580.2:c.181A>T, NM_001352580.2:c.181A>G, NM_001352580.1:c.181A>T, NM_001352580.1:c.181A>G, NM_001352582.2:c.181A>T, NM_001352582.2:c.181A>G, NM_001352582.1:c.181A>T, NM_001352582.1:c.181A>G, NM_001352571.1:c.280A>T, NM_001352571.1:c.280A>G, NM_001352569.1:c.286A>T, NM_001352569.1:c.286A>G, NM_001352568.1:c.307A>T, NM_001352568.1:c.307A>G, NM_001352586.1:c.280A>T, NM_001352586.1:c.280A>G, NM_001352572.1:c.307A>T, NM_001352572.1:c.307A>G, NM_001352587.1:c.280A>T, NM_001352587.1:c.280A>G, NM_001352573.1:c.286A>T, NM_001352573.1:c.286A>G, NM_001352581.1:c.286A>T, NM_001352581.1:c.286A>G, NM_001352588.1:c.286A>T, NM_001352588.1:c.286A>G, NM_001352570.1:c.286A>T, NM_001352570.1:c.286A>G, XM_017016894.3:c.181A>T, XM_017016894.3:c.181A>G, XM_017016894.2:c.478A>T, XM_017016894.2:c.478A>G, XM_017016894.1:c.478A>T, XM_017016894.1:c.478A>G, XM_017016888.3:c.286A>T, XM_017016888.3:c.286A>G, XM_017016888.2:c.286A>T, XM_017016888.2:c.286A>G, XM_017016888.1:c.286A>T, XM_017016888.1:c.286A>G, XM_017016887.3:c.307A>T, XM_017016887.3:c.307A>G, XM_017016887.2:c.307A>T, XM_017016887.2:c.307A>G, XM_017016887.1:c.307A>T, XM_017016887.1:c.307A>G, XM_017016889.3:c.307A>T, XM_017016889.3:c.307A>G, XM_017016889.2:c.307A>T, XM_017016889.2:c.307A>G, XM_017016889.1:c.307A>T, XM_017016889.1:c.307A>G, XM_017016895.3:c.181A>T, XM_017016895.3:c.181A>G, XM_017016895.2:c.181A>T, XM_017016895.2:c.181A>G, XM_017016895.1:c.181A>T, XM_017016895.1:c.181A>G, XM_017016884.3:c.181A>T, XM_017016884.3:c.181A>G, XM_017016884.2:c.478A>T, XM_017016884.2:c.478A>G, XM_017016884.1:c.478A>T, XM_017016884.1:c.478A>G, XM_017016885.3:c.181A>T, XM_017016885.3:c.181A>G, XM_017016885.2:c.478A>T, XM_017016885.2:c.478A>G, XM_017016885.1:c.478A>T, XM_017016885.1:c.478A>G, XM_017016898.3:c.286A>T, XM_017016898.3:c.286A>G, XM_017016898.2:c.286A>T, XM_017016898.2:c.286A>G, XM_017016898.1:c.286A>T, XM_017016898.1:c.286A>G, XM_017016890.3:c.181A>T, XM_017016890.3:c.181A>G, XM_017016890.2:c.478A>T, XM_017016890.2:c.478A>G, XM_017016890.1:c.478A>T, XM_017016890.1:c.478A>G, XM_017016893.3:c.181A>T, XM_017016893.3:c.181A>G, XM_017016893.2:c.478A>T, XM_017016893.2:c.478A>G, XM_017016893.1:c.478A>T, XM_017016893.1:c.478A>G, XM_024448249.2:c.307A>T, XM_024448249.2:c.307A>G, XM_024448249.1:c.307A>T, XM_024448249.1:c.307A>G, XM_017016896.2:c.181A>T, XM_017016896.2:c.181A>G, XM_017016896.1:c.181A>T, XM_017016896.1:c.181A>G, XM_024448248.2:c.286A>T, XM_024448248.2:c.286A>G, XM_024448248.1:c.286A>T, XM_024448248.1:c.286A>G, XM_047425995.1:c.289A>T, XM_047425995.1:c.289A>G, XM_047425996.1:c.307A>T, XM_047425996.1:c.307A>G, XM_047425994.1:c.181A>T, XM_047425994.1:c.181A>G, XM_047425993.1:c.289A>T, XM_047425993.1:c.289A>G, NP_663736.2:p.Ile96Phe, NP_663736.2:p.Ile96Val, NP_001035938.1:p.Ile61Phe, NP_001035938.1:p.Ile61Val, NP_001258441.1:p.Ile94Phe, NP_001258441.1:p.Ile94Val, NP_001339508.1:p.Ile61Phe, NP_001339508.1:p.Ile61Val, NP_001339503.1:p.Ile61Phe, NP_001339503.1:p.Ile61Val, NP_001339504.1:p.Ile61Phe, NP_001339504.1:p.Ile61Val, NP_001339505.1:p.Ile61Phe, NP_001339505.1:p.Ile61Val, NP_001339506.1:p.Ile61Phe, NP_001339506.1:p.Ile61Val, NP_001339507.1:p.Ile61Phe, NP_001339507.1:p.Ile61Val, NP_001339509.1:p.Ile61Phe, NP_001339509.1:p.Ile61Val, NP_001339511.1:p.Ile61Phe, NP_001339511.1:p.Ile61Val, NP_001339500.1:p.Ile94Phe, NP_001339500.1:p.Ile94Val, NP_001339498.1:p.Ile96Phe, NP_001339498.1:p.Ile96Val, NP_001339497.1:p.Ile103Phe, NP_001339497.1:p.Ile103Val, NP_001339515.1:p.Ile94Phe, NP_001339515.1:p.Ile94Val, NP_001339501.1:p.Ile103Phe, NP_001339501.1:p.Ile103Val, NP_001339516.1:p.Ile94Phe, NP_001339516.1:p.Ile94Val, NP_001339502.1:p.Ile96Phe, NP_001339502.1:p.Ile96Val, NP_001339510.1:p.Ile96Phe, NP_001339510.1:p.Ile96Val, NP_001339517.1:p.Ile96Phe, NP_001339517.1:p.Ile96Val, NP_001339499.1:p.Ile96Phe, NP_001339499.1:p.Ile96Val, XP_016872383.2:p.Ile61Phe, XP_016872383.2:p.Ile61Val, XP_016872377.1:p.Ile96Phe, XP_016872377.1:p.Ile96Val, XP_016872376.1:p.Ile103Phe, XP_016872376.1:p.Ile103Val, XP_016872378.1:p.Ile103Phe, XP_016872378.1:p.Ile103Val, XP_016872384.1:p.Ile61Phe, XP_016872384.1:p.Ile61Val, XP_016872373.2:p.Ile61Phe, XP_016872373.2:p.Ile61Val, XP_016872374.2:p.Ile61Phe, XP_016872374.2:p.Ile61Val, XP_016872387.1:p.Ile96Phe, XP_016872387.1:p.Ile96Val, XP_016872379.2:p.Ile61Phe, XP_016872379.2:p.Ile61Val, XP_016872382.2:p.Ile61Phe, XP_016872382.2:p.Ile61Val, XP_024304017.1:p.Ile103Phe, XP_024304017.1:p.Ile103Val, XP_016872385.1:p.Ile61Phe, XP_016872385.1:p.Ile61Val, XP_024304016.1:p.Ile96Phe, XP_024304016.1:p.Ile96Val, XP_047281951.1:p.Ile97Phe, XP_047281951.1:p.Ile97Val, XP_047281952.1:p.Ile103Phe, XP_047281952.1:p.Ile103Val, XP_047281950.1:p.Ile61Phe, XP_047281950.1:p.Ile61Val, XP_047281949.1:p.Ile97Phe, XP_047281949.1:p.Ile97Val

          5.

          rs1481650354 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:27223397 (GRCh38)
            10:27512326 (GRCh37)
            Canonical SPDI:
            NC_000010.11:27223396:C:T
            Gene:
            ACBD5 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.27223397C>T, NC_000010.10:g.27512326C>T, NG_032960.3:g.30278G>A, NM_145698.5:c.431G>A, NM_145698.4:c.431G>A, NM_145698.3:c.431G>A, NM_001042473.4:c.326G>A, NM_001042473.3:c.326G>A, NM_001042473.2:c.326G>A, NM_001271512.3:c.425G>A, NM_001271512.2:c.425G>A, NM_001271512.1:c.425G>A, NM_001352579.2:c.326G>A, NM_001352579.1:c.326G>A, NM_001352574.2:c.326G>A, NM_001352574.1:c.326G>A, NM_001352575.2:c.326G>A, NM_001352575.1:c.326G>A, NM_001352576.2:c.326G>A, NM_001352576.1:c.326G>A, NM_001352577.2:c.326G>A, NM_001352577.1:c.326G>A, NM_001352578.2:c.326G>A, NM_001352578.1:c.326G>A, NM_001352580.2:c.326G>A, NM_001352580.1:c.326G>A, NM_001301251.2:c.104G>A, NM_001301251.1:c.104G>A, NM_001301253.2:c.104G>A, NM_001301253.1:c.104G>A, NM_001301252.2:c.104G>A, NM_001301252.1:c.104G>A, NM_001352582.2:c.326G>A, NM_001352582.1:c.326G>A, NM_001301254.2:c.104G>A, NM_001301254.1:c.104G>A, NM_001352571.1:c.425G>A, NM_001352569.1:c.431G>A, NM_001352568.1:c.452G>A, NM_001352586.1:c.425G>A, NM_001352572.1:c.452G>A, NM_001352587.1:c.425G>A, NM_001352573.1:c.431G>A, NM_001352585.1:c.104G>A, NM_001352584.1:c.104G>A, NM_001352583.1:c.104G>A, NM_001352581.1:c.431G>A, NM_001352588.1:c.431G>A, NM_001352570.1:c.431G>A, XM_017016894.3:c.326G>A, XM_017016894.2:c.623G>A, XM_017016894.1:c.623G>A, XM_017016888.3:c.431G>A, XM_017016888.2:c.431G>A, XM_017016888.1:c.431G>A, XM_017016887.3:c.452G>A, XM_017016887.2:c.452G>A, XM_017016887.1:c.452G>A, XM_017016889.3:c.452G>A, XM_017016889.2:c.452G>A, XM_017016889.1:c.452G>A, XM_017016895.3:c.326G>A, XM_017016895.2:c.326G>A, XM_017016895.1:c.326G>A, XM_017016884.3:c.326G>A, XM_017016884.2:c.623G>A, XM_017016884.1:c.623G>A, XM_017016885.3:c.326G>A, XM_017016885.2:c.623G>A, XM_017016885.1:c.623G>A, XM_017016898.3:c.431G>A, XM_017016898.2:c.431G>A, XM_017016898.1:c.431G>A, XM_017016890.3:c.326G>A, XM_017016890.2:c.623G>A, XM_017016890.1:c.623G>A, XM_017016893.3:c.326G>A, XM_017016893.2:c.623G>A, XM_017016893.1:c.623G>A, NR_073197.2:n.690G>A, NR_073196.2:n.690G>A, XM_024448249.2:c.452G>A, XM_024448249.1:c.452G>A, XM_017016896.2:c.326G>A, XM_017016896.1:c.326G>A, XM_024448248.2:c.431G>A, XM_024448248.1:c.431G>A, XM_047425995.1:c.434G>A, NR_073197.1:n.690G>A, NR_073196.1:n.690G>A, XM_047425996.1:c.452G>A, NR_024150.1:n.376G>A, NR_073195.1:n.366G>A, XM_047425994.1:c.326G>A, XM_047425993.1:c.434G>A, NP_663736.2:p.Gly144Asp, NP_001035938.1:p.Gly109Asp, NP_001258441.1:p.Gly142Asp, NP_001339508.1:p.Gly109Asp, NP_001339503.1:p.Gly109Asp, NP_001339504.1:p.Gly109Asp, NP_001339505.1:p.Gly109Asp, NP_001339506.1:p.Gly109Asp, NP_001339507.1:p.Gly109Asp, NP_001339509.1:p.Gly109Asp, NP_001288180.1:p.Gly35Asp, NP_001288182.1:p.Gly35Asp, NP_001288181.1:p.Gly35Asp, NP_001339511.1:p.Gly109Asp, NP_001288183.1:p.Gly35Asp, NP_001339500.1:p.Gly142Asp, NP_001339498.1:p.Gly144Asp, NP_001339497.1:p.Gly151Asp, NP_001339515.1:p.Gly142Asp, NP_001339501.1:p.Gly151Asp, NP_001339516.1:p.Gly142Asp, NP_001339502.1:p.Gly144Asp, NP_001339514.1:p.Gly35Asp, NP_001339513.1:p.Gly35Asp, NP_001339512.1:p.Gly35Asp, NP_001339510.1:p.Gly144Asp, NP_001339517.1:p.Gly144Asp, NP_001339499.1:p.Gly144Asp, XP_016872383.2:p.Gly109Asp, XP_016872377.1:p.Gly144Asp, XP_016872376.1:p.Gly151Asp, XP_016872378.1:p.Gly151Asp, XP_016872384.1:p.Gly109Asp, XP_016872373.2:p.Gly109Asp, XP_016872374.2:p.Gly109Asp, XP_016872387.1:p.Gly144Asp, XP_016872379.2:p.Gly109Asp, XP_016872382.2:p.Gly109Asp, XP_024304017.1:p.Gly151Asp, XP_016872385.1:p.Gly109Asp, XP_024304016.1:p.Gly144Asp, XP_047281951.1:p.Gly145Asp, XP_047281952.1:p.Gly151Asp, XP_047281950.1:p.Gly109Asp, XP_047281949.1:p.Gly145Asp

            6.

            rs1479642036 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:27218035 (GRCh38)
              10:27506964 (GRCh37)
              Canonical SPDI:
              NC_000010.11:27218034:C:T
              Gene:
              ACBD5 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.27218035C>T, NC_000010.10:g.27506964C>T, NG_032960.3:g.35640G>A, NM_145698.5:c.774G>A, NM_145698.4:c.774G>A, NM_145698.3:c.774G>A, NM_001042473.4:c.669G>A, NM_001042473.3:c.669G>A, NM_001042473.2:c.669G>A, NM_001271512.3:c.768G>A, NM_001271512.2:c.768G>A, NM_001271512.1:c.768G>A, NM_001352579.2:c.669G>A, NM_001352579.1:c.669G>A, NM_001352574.2:c.702G>A, NM_001352574.1:c.702G>A, NM_001352575.2:c.702G>A, NM_001352575.1:c.702G>A, NM_001352576.2:c.702G>A, NM_001352576.1:c.702G>A, NM_001352577.2:c.669G>A, NM_001352577.1:c.669G>A, NM_001352578.2:c.669G>A, NM_001352578.1:c.669G>A, NM_001352580.2:c.615G>A, NM_001352580.1:c.615G>A, NM_001301251.2:c.447G>A, NM_001301251.1:c.447G>A, NM_001301253.2:c.447G>A, NM_001301253.1:c.447G>A, NM_001301252.2:c.447G>A, NM_001301252.1:c.447G>A, NM_001352571.1:c.801G>A, NM_001352569.1:c.807G>A, NM_001352568.1:c.828G>A, NM_001352572.1:c.795G>A, NM_001352573.1:c.753G>A, NM_001352585.1:c.480G>A, NM_001352584.1:c.447G>A, NM_001352583.1:c.447G>A, NM_001352570.1:c.774G>A, XM_017016888.3:c.807G>A, XM_017016888.2:c.807G>A, XM_017016888.1:c.807G>A, XM_017016887.3:c.828G>A, XM_017016887.2:c.828G>A, XM_017016887.1:c.828G>A, XM_017016889.3:c.795G>A, XM_017016889.2:c.795G>A, XM_017016889.1:c.795G>A, XM_017016895.3:c.702G>A, XM_017016895.2:c.702G>A, XM_017016895.1:c.702G>A, XM_017016884.3:c.702G>A, XM_017016884.2:c.999G>A, XM_017016884.1:c.999G>A, XM_017016885.3:c.669G>A, XM_017016885.2:c.966G>A, XM_017016885.1:c.966G>A, NR_073197.2:n.1033G>A, XM_017016896.2:c.669G>A, XM_017016896.1:c.669G>A, XM_047425995.1:c.777G>A, NR_073197.1:n.1033G>A, NR_024150.1:n.719G>A, NR_073195.1:n.709G>A, XM_047425993.1:c.810G>A

              7.

              rs1479036676 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                10:27218095 (GRCh38)
                10:27507024 (GRCh37)
                Canonical SPDI:
                NC_000010.11:27218094:A:C
                Gene:
                ACBD5 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:
                NC_000010.11:g.27218095A>C, NC_000010.10:g.27507024A>C, NG_032960.3:g.35580T>G, NM_145698.5:c.714T>G, NM_145698.4:c.714T>G, NM_145698.3:c.714T>G, NM_001042473.4:c.609T>G, NM_001042473.3:c.609T>G, NM_001042473.2:c.609T>G, NM_001271512.3:c.708T>G, NM_001271512.2:c.708T>G, NM_001271512.1:c.708T>G, NM_001352579.2:c.609T>G, NM_001352579.1:c.609T>G, NM_001352574.2:c.642T>G, NM_001352574.1:c.642T>G, NM_001352575.2:c.642T>G, NM_001352575.1:c.642T>G, NM_001352576.2:c.642T>G, NM_001352576.1:c.642T>G, NM_001352577.2:c.609T>G, NM_001352577.1:c.609T>G, NM_001352578.2:c.609T>G, NM_001352578.1:c.609T>G, NM_001352580.2:c.555T>G, NM_001352580.1:c.555T>G, NM_001301251.2:c.387T>G, NM_001301251.1:c.387T>G, NM_001301253.2:c.387T>G, NM_001301253.1:c.387T>G, NM_001301252.2:c.387T>G, NM_001301252.1:c.387T>G, NM_001352571.1:c.741T>G, NM_001352569.1:c.747T>G, NM_001352568.1:c.768T>G, NM_001352572.1:c.735T>G, NM_001352573.1:c.693T>G, NM_001352585.1:c.420T>G, NM_001352584.1:c.387T>G, NM_001352583.1:c.387T>G, NM_001352570.1:c.714T>G, XM_017016888.3:c.747T>G, XM_017016888.2:c.747T>G, XM_017016888.1:c.747T>G, XM_017016887.3:c.768T>G, XM_017016887.2:c.768T>G, XM_017016887.1:c.768T>G, XM_017016889.3:c.735T>G, XM_017016889.2:c.735T>G, XM_017016889.1:c.735T>G, XM_017016895.3:c.642T>G, XM_017016895.2:c.642T>G, XM_017016895.1:c.642T>G, XM_017016884.3:c.642T>G, XM_017016884.2:c.939T>G, XM_017016884.1:c.939T>G, XM_017016885.3:c.609T>G, XM_017016885.2:c.906T>G, XM_017016885.1:c.906T>G, NR_073197.2:n.973T>G, XM_017016896.2:c.609T>G, XM_017016896.1:c.609T>G, XM_047425995.1:c.717T>G, NR_073197.1:n.973T>G, NR_024150.1:n.659T>G, NR_073195.1:n.649T>G, XM_047425993.1:c.750T>G, NP_663736.2:p.Asp238Glu, NP_001035938.1:p.Asp203Glu, NP_001258441.1:p.Asp236Glu, NP_001339508.1:p.Asp203Glu, NP_001339503.1:p.Asp214Glu, NP_001339504.1:p.Asp214Glu, NP_001339505.1:p.Asp214Glu, NP_001339506.1:p.Asp203Glu, NP_001339507.1:p.Asp203Glu, NP_001339509.1:p.Asp185Glu, NP_001288180.1:p.Asp129Glu, NP_001288182.1:p.Asp129Glu, NP_001288181.1:p.Asp129Glu, NP_001339500.1:p.Asp247Glu, NP_001339498.1:p.Asp249Glu, NP_001339497.1:p.Asp256Glu, NP_001339501.1:p.Asp245Glu, NP_001339502.1:p.Asp231Glu, NP_001339514.1:p.Asp140Glu, NP_001339513.1:p.Asp129Glu, NP_001339512.1:p.Asp129Glu, NP_001339499.1:p.Asp238Glu, XP_016872377.1:p.Asp249Glu, XP_016872376.1:p.Asp256Glu, XP_016872378.1:p.Asp245Glu, XP_016872384.1:p.Asp214Glu, XP_016872373.2:p.Asp214Glu, XP_016872374.2:p.Asp203Glu, XP_016872385.1:p.Asp203Glu, XP_047281951.1:p.Asp239Glu, XP_047281949.1:p.Asp250Glu

                8.

                rs1478531446 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  10:27210923 (GRCh38)
                  10:27499852 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:27210922:T:A
                  Gene:
                  ACBD5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000010.11:g.27210923T>A, NC_000010.10:g.27499852T>A, NG_032960.3:g.42752A>T, NM_145698.5:c.1095A>T, NM_145698.4:c.1095A>T, NM_145698.3:c.1095A>T, NM_001042473.4:c.990A>T, NM_001042473.3:c.990A>T, NM_001042473.2:c.990A>T, NM_001271512.3:c.1089A>T, NM_001271512.2:c.1089A>T, NM_001271512.1:c.1089A>T, NM_001352579.2:c.990A>T, NM_001352579.1:c.990A>T, NM_001352574.2:c.1023A>T, NM_001352574.1:c.1023A>T, NM_001352575.2:c.1023A>T, NM_001352575.1:c.1023A>T, NM_001352576.2:c.1023A>T, NM_001352576.1:c.1023A>T, NM_001352577.2:c.990A>T, NM_001352577.1:c.990A>T, NM_001352578.2:c.990A>T, NM_001352578.1:c.990A>T, NM_001352580.2:c.936A>T, NM_001352580.1:c.936A>T, NM_001301251.2:c.768A>T, NM_001301251.1:c.768A>T, NM_001301253.2:c.768A>T, NM_001301253.1:c.768A>T, NM_001301252.2:c.768A>T, NM_001301252.1:c.768A>T, NM_001352582.2:c.786A>T, NM_001352582.1:c.786A>T, NM_001301254.2:c.564A>T, NM_001301254.1:c.564A>T, NM_001352571.1:c.1122A>T, NM_001352569.1:c.1128A>T, NM_001352568.1:c.1149A>T, NM_001352586.1:c.918A>T, NM_001352572.1:c.1116A>T, NM_001352587.1:c.885A>T, NM_001352573.1:c.1074A>T, NM_001352585.1:c.801A>T, NM_001352584.1:c.768A>T, NM_001352583.1:c.768A>T, NM_001352581.1:c.924A>T, NM_001352588.1:c.891A>T, NM_001352570.1:c.1095A>T, XM_017016894.3:c.786A>T, XM_017016894.2:c.1083A>T, XM_017016894.1:c.1083A>T, XM_017016888.3:c.1128A>T, XM_017016888.2:c.1128A>T, XM_017016888.1:c.1128A>T, XM_017016887.3:c.1149A>T, XM_017016887.2:c.1149A>T, XM_017016887.1:c.1149A>T, XM_017016889.3:c.1116A>T, XM_017016889.2:c.1116A>T, XM_017016889.1:c.1116A>T, XM_017016895.3:c.1023A>T, XM_017016895.2:c.1023A>T, XM_017016895.1:c.1023A>T, XM_017016884.3:c.1023A>T, XM_017016884.2:c.1320A>T, XM_017016884.1:c.1320A>T, XM_017016885.3:c.990A>T, XM_017016885.2:c.1287A>T, XM_017016885.1:c.1287A>T, XM_017016898.3:c.891A>T, XM_017016898.2:c.891A>T, XM_017016898.1:c.891A>T, XM_017016890.3:c.819A>T, XM_017016890.2:c.1116A>T, XM_017016890.1:c.1116A>T, XM_017016893.3:c.786A>T, XM_017016893.2:c.1083A>T, XM_017016893.1:c.1083A>T, NR_073197.2:n.1354A>T, NR_073196.2:n.1150A>T, XM_024448249.2:c.912A>T, XM_024448249.1:c.912A>T, XM_017016896.2:c.990A>T, XM_017016896.1:c.990A>T, XM_024448248.2:c.924A>T, XM_024448248.1:c.924A>T, XM_047425995.1:c.1098A>T, NR_073197.1:n.1354A>T, NR_073196.1:n.1150A>T, XM_047425996.1:c.945A>T, NR_024150.1:n.1040A>T, NR_073195.1:n.1030A>T, XM_047425994.1:c.819A>T, XM_047425993.1:c.1131A>T, NP_663736.2:p.Lys365Asn, NP_001035938.1:p.Lys330Asn, NP_001258441.1:p.Lys363Asn, NP_001339508.1:p.Lys330Asn, NP_001339503.1:p.Lys341Asn, NP_001339504.1:p.Lys341Asn, NP_001339505.1:p.Lys341Asn, NP_001339506.1:p.Lys330Asn, NP_001339507.1:p.Lys330Asn, NP_001339509.1:p.Lys312Asn, NP_001288180.1:p.Lys256Asn, NP_001288182.1:p.Lys256Asn, NP_001288181.1:p.Lys256Asn, NP_001339511.1:p.Lys262Asn, NP_001288183.1:p.Lys188Asn, NP_001339500.1:p.Lys374Asn, NP_001339498.1:p.Lys376Asn, NP_001339497.1:p.Lys383Asn, NP_001339515.1:p.Lys306Asn, NP_001339501.1:p.Lys372Asn, NP_001339516.1:p.Lys295Asn, NP_001339502.1:p.Lys358Asn, NP_001339514.1:p.Lys267Asn, NP_001339513.1:p.Lys256Asn, NP_001339512.1:p.Lys256Asn, NP_001339510.1:p.Lys308Asn, NP_001339517.1:p.Lys297Asn, NP_001339499.1:p.Lys365Asn, XP_016872383.2:p.Lys262Asn, XP_016872377.1:p.Lys376Asn, XP_016872376.1:p.Lys383Asn, XP_016872378.1:p.Lys372Asn, XP_016872384.1:p.Lys341Asn, XP_016872373.2:p.Lys341Asn, XP_016872374.2:p.Lys330Asn, XP_016872387.1:p.Lys297Asn, XP_016872379.2:p.Lys273Asn, XP_016872382.2:p.Lys262Asn, XP_024304017.1:p.Lys304Asn, XP_016872385.1:p.Lys330Asn, XP_024304016.1:p.Lys308Asn, XP_047281951.1:p.Lys366Asn, XP_047281952.1:p.Lys315Asn, XP_047281950.1:p.Lys273Asn, XP_047281949.1:p.Lys377Asn

                  9.

                  rs1477170150 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,G [Show Flanks]
                    Chromosome:
                    10:27231805 (GRCh38)
                    10:27520734 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:27231804:T:A,NC_000010.11:27231804:T:G
                    Gene:
                    ACBD5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000010.11:g.27231805T>A, NC_000010.11:g.27231805T>G, NC_000010.10:g.27520734T>A, NC_000010.10:g.27520734T>G, NG_032960.3:g.21870A>T, NG_032960.3:g.21870A>C, NM_145698.5:c.318A>T, NM_145698.5:c.318A>C, NM_145698.4:c.318A>T, NM_145698.4:c.318A>C, NM_145698.3:c.318A>T, NM_145698.3:c.318A>C, NM_001042473.4:c.213A>T, NM_001042473.4:c.213A>C, NM_001042473.3:c.213A>T, NM_001042473.3:c.213A>C, NM_001042473.2:c.213A>T, NM_001042473.2:c.213A>C, NM_001271512.3:c.312A>T, NM_001271512.3:c.312A>C, NM_001271512.2:c.312A>T, NM_001271512.2:c.312A>C, NM_001271512.1:c.312A>T, NM_001271512.1:c.312A>C, NM_001352579.2:c.213A>T, NM_001352579.2:c.213A>C, NM_001352579.1:c.213A>T, NM_001352579.1:c.213A>C, NM_001352574.2:c.213A>T, NM_001352574.2:c.213A>C, NM_001352574.1:c.213A>T, NM_001352574.1:c.213A>C, NM_001352575.2:c.213A>T, NM_001352575.2:c.213A>C, NM_001352575.1:c.213A>T, NM_001352575.1:c.213A>C, NM_001352576.2:c.213A>T, NM_001352576.2:c.213A>C, NM_001352576.1:c.213A>T, NM_001352576.1:c.213A>C, NM_001352577.2:c.213A>T, NM_001352577.2:c.213A>C, NM_001352577.1:c.213A>T, NM_001352577.1:c.213A>C, NM_001352578.2:c.213A>T, NM_001352578.2:c.213A>C, NM_001352578.1:c.213A>T, NM_001352578.1:c.213A>C, NM_001352580.2:c.213A>T, NM_001352580.2:c.213A>C, NM_001352580.1:c.213A>T, NM_001352580.1:c.213A>C, NM_001301251.2:c.-10A>T, NM_001301251.2:c.-10A>C, NM_001301251.1:c.-10A>T, NM_001301251.1:c.-10A>C, NM_001301253.2:c.-10A>T, NM_001301253.2:c.-10A>C, NM_001301253.1:c.-10A>T, NM_001301253.1:c.-10A>C, NM_001301252.2:c.-10A>T, NM_001301252.2:c.-10A>C, NM_001301252.1:c.-10A>T, NM_001301252.1:c.-10A>C, NM_001352582.2:c.213A>T, NM_001352582.2:c.213A>C, NM_001352582.1:c.213A>T, NM_001352582.1:c.213A>C, NM_001301254.2:c.-10A>T, NM_001301254.2:c.-10A>C, NM_001301254.1:c.-10A>T, NM_001301254.1:c.-10A>C, NM_001352571.1:c.312A>T, NM_001352571.1:c.312A>C, NM_001352569.1:c.318A>T, NM_001352569.1:c.318A>C, NM_001352568.1:c.339A>T, NM_001352568.1:c.339A>C, NM_001352586.1:c.312A>T, NM_001352586.1:c.312A>C, NM_001352572.1:c.339A>T, NM_001352572.1:c.339A>C, NM_001352587.1:c.312A>T, NM_001352587.1:c.312A>C, NM_001352573.1:c.318A>T, NM_001352573.1:c.318A>C, NM_001352585.1:c.-10A>T, NM_001352585.1:c.-10A>C, NM_001352584.1:c.-10A>T, NM_001352584.1:c.-10A>C, NM_001352583.1:c.-10A>T, NM_001352583.1:c.-10A>C, NM_001352581.1:c.318A>T, NM_001352581.1:c.318A>C, NM_001352588.1:c.318A>T, NM_001352588.1:c.318A>C, NM_001352570.1:c.318A>T, NM_001352570.1:c.318A>C, XM_017016894.3:c.213A>T, XM_017016894.3:c.213A>C, XM_017016894.2:c.510A>T, XM_017016894.2:c.510A>C, XM_017016894.1:c.510A>T, XM_017016894.1:c.510A>C, XM_017016888.3:c.318A>T, XM_017016888.3:c.318A>C, XM_017016888.2:c.318A>T, XM_017016888.2:c.318A>C, XM_017016888.1:c.318A>T, XM_017016888.1:c.318A>C, XM_017016887.3:c.339A>T, XM_017016887.3:c.339A>C, XM_017016887.2:c.339A>T, XM_017016887.2:c.339A>C, XM_017016887.1:c.339A>T, XM_017016887.1:c.339A>C, XM_017016889.3:c.339A>T, XM_017016889.3:c.339A>C, XM_017016889.2:c.339A>T, XM_017016889.2:c.339A>C, XM_017016889.1:c.339A>T, XM_017016889.1:c.339A>C, XM_017016895.3:c.213A>T, XM_017016895.3:c.213A>C, XM_017016895.2:c.213A>T, XM_017016895.2:c.213A>C, XM_017016895.1:c.213A>T, XM_017016895.1:c.213A>C, XM_017016884.3:c.213A>T, XM_017016884.3:c.213A>C, XM_017016884.2:c.510A>T, XM_017016884.2:c.510A>C, XM_017016884.1:c.510A>T, XM_017016884.1:c.510A>C, XM_017016885.3:c.213A>T, XM_017016885.3:c.213A>C, XM_017016885.2:c.510A>T, XM_017016885.2:c.510A>C, XM_017016885.1:c.510A>T, XM_017016885.1:c.510A>C, XM_017016898.3:c.318A>T, XM_017016898.3:c.318A>C, XM_017016898.2:c.318A>T, XM_017016898.2:c.318A>C, XM_017016898.1:c.318A>T, XM_017016898.1:c.318A>C, XM_017016890.3:c.213A>T, XM_017016890.3:c.213A>C, XM_017016890.2:c.510A>T, XM_017016890.2:c.510A>C, XM_017016890.1:c.510A>T, XM_017016890.1:c.510A>C, XM_017016893.3:c.213A>T, XM_017016893.3:c.213A>C, XM_017016893.2:c.510A>T, XM_017016893.2:c.510A>C, XM_017016893.1:c.510A>T, XM_017016893.1:c.510A>C, NR_073197.2:n.577A>T, NR_073197.2:n.577A>C, NR_073196.2:n.577A>T, NR_073196.2:n.577A>C, XM_024448249.2:c.339A>T, XM_024448249.2:c.339A>C, XM_024448249.1:c.339A>T, XM_024448249.1:c.339A>C, XM_017016896.2:c.213A>T, XM_017016896.2:c.213A>C, XM_017016896.1:c.213A>T, XM_017016896.1:c.213A>C, XM_024448248.2:c.318A>T, XM_024448248.2:c.318A>C, XM_024448248.1:c.318A>T, XM_024448248.1:c.318A>C, XM_047425995.1:c.321A>T, XM_047425995.1:c.321A>C, NR_073197.1:n.577A>T, NR_073197.1:n.577A>C, NR_073196.1:n.577A>T, NR_073196.1:n.577A>C, XM_047425996.1:c.339A>T, XM_047425996.1:c.339A>C, NR_024150.1:n.263A>T, NR_024150.1:n.263A>C, NR_073195.1:n.253A>T, NR_073195.1:n.253A>C, XM_047425994.1:c.213A>T, XM_047425994.1:c.213A>C, XM_047425993.1:c.321A>T, XM_047425993.1:c.321A>C

                    10.

                    rs1476926610 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      10:27219765 (GRCh38)
                      10:27508694 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:27219764:C:A
                      Gene:
                      ACBD5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,stop_gained
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.27219765C>A, NC_000010.10:g.27508694C>A, NG_032960.3:g.33910G>T, NM_145698.5:c.583G>T, NM_145698.4:c.583G>T, NM_145698.3:c.583G>T, NM_001042473.4:c.478G>T, NM_001042473.3:c.478G>T, NM_001042473.2:c.478G>T, NM_001271512.3:c.577G>T, NM_001271512.2:c.577G>T, NM_001271512.1:c.577G>T, NM_001352579.2:c.478G>T, NM_001352579.1:c.478G>T, NM_001352574.2:c.511G>T, NM_001352574.1:c.511G>T, NM_001352575.2:c.511G>T, NM_001352575.1:c.511G>T, NM_001352576.2:c.511G>T, NM_001352576.1:c.511G>T, NM_001352577.2:c.478G>T, NM_001352577.1:c.478G>T, NM_001352578.2:c.478G>T, NM_001352578.1:c.478G>T, NM_001352580.2:c.424G>T, NM_001352580.1:c.424G>T, NM_001301251.2:c.256G>T, NM_001301251.1:c.256G>T, NM_001301253.2:c.256G>T, NM_001301253.1:c.256G>T, NM_001301252.2:c.256G>T, NM_001301252.1:c.256G>T, NM_001352582.2:c.478G>T, NM_001352582.1:c.478G>T, NM_001301254.2:c.256G>T, NM_001301254.1:c.256G>T, NM_001352571.1:c.610G>T, NM_001352569.1:c.616G>T, NM_001352568.1:c.637G>T, NM_001352586.1:c.610G>T, NM_001352572.1:c.604G>T, NM_001352587.1:c.577G>T, NM_001352573.1:c.562G>T, NM_001352585.1:c.289G>T, NM_001352584.1:c.256G>T, NM_001352583.1:c.256G>T, NM_001352581.1:c.616G>T, NM_001352588.1:c.583G>T, NM_001352570.1:c.583G>T, XM_017016894.3:c.478G>T, XM_017016894.2:c.775G>T, XM_017016894.1:c.775G>T, XM_017016888.3:c.616G>T, XM_017016888.2:c.616G>T, XM_017016888.1:c.616G>T, XM_017016887.3:c.637G>T, XM_017016887.2:c.637G>T, XM_017016887.1:c.637G>T, XM_017016889.3:c.604G>T, XM_017016889.2:c.604G>T, XM_017016889.1:c.604G>T, XM_017016895.3:c.511G>T, XM_017016895.2:c.511G>T, XM_017016895.1:c.511G>T, XM_017016884.3:c.511G>T, XM_017016884.2:c.808G>T, XM_017016884.1:c.808G>T, XM_017016885.3:c.478G>T, XM_017016885.2:c.775G>T, XM_017016885.1:c.775G>T, XM_017016898.3:c.583G>T, XM_017016898.2:c.583G>T, XM_017016898.1:c.583G>T, XM_017016890.3:c.511G>T, XM_017016890.2:c.808G>T, XM_017016890.1:c.808G>T, XM_017016893.3:c.478G>T, XM_017016893.2:c.775G>T, XM_017016893.1:c.775G>T, NR_073197.2:n.842G>T, NR_073196.2:n.842G>T, XM_024448249.2:c.604G>T, XM_024448249.1:c.604G>T, XM_017016896.2:c.478G>T, XM_017016896.1:c.478G>T, XM_024448248.2:c.616G>T, XM_024448248.1:c.616G>T, XM_047425995.1:c.586G>T, NR_073197.1:n.842G>T, NR_073196.1:n.842G>T, XM_047425996.1:c.637G>T, NR_024150.1:n.528G>T, NR_073195.1:n.518G>T, XM_047425994.1:c.511G>T, XM_047425993.1:c.619G>T, NP_663736.2:p.Glu195Ter, NP_001035938.1:p.Glu160Ter, NP_001258441.1:p.Glu193Ter, NP_001339508.1:p.Glu160Ter, NP_001339503.1:p.Glu171Ter, NP_001339504.1:p.Glu171Ter, NP_001339505.1:p.Glu171Ter, NP_001339506.1:p.Glu160Ter, NP_001339507.1:p.Glu160Ter, NP_001339509.1:p.Glu142Ter, NP_001288180.1:p.Glu86Ter, NP_001288182.1:p.Glu86Ter, NP_001288181.1:p.Glu86Ter, NP_001339511.1:p.Glu160Ter, NP_001288183.1:p.Glu86Ter, NP_001339500.1:p.Glu204Ter, NP_001339498.1:p.Glu206Ter, NP_001339497.1:p.Glu213Ter, NP_001339515.1:p.Glu204Ter, NP_001339501.1:p.Glu202Ter, NP_001339516.1:p.Glu193Ter, NP_001339502.1:p.Glu188Ter, NP_001339514.1:p.Glu97Ter, NP_001339513.1:p.Glu86Ter, NP_001339512.1:p.Glu86Ter, NP_001339510.1:p.Glu206Ter, NP_001339517.1:p.Glu195Ter, NP_001339499.1:p.Glu195Ter, XP_016872383.2:p.Glu160Ter, XP_016872377.1:p.Glu206Ter, XP_016872376.1:p.Glu213Ter, XP_016872378.1:p.Glu202Ter, XP_016872384.1:p.Glu171Ter, XP_016872373.2:p.Glu171Ter, XP_016872374.2:p.Glu160Ter, XP_016872387.1:p.Glu195Ter, XP_016872379.2:p.Glu171Ter, XP_016872382.2:p.Glu160Ter, XP_024304017.1:p.Glu202Ter, XP_016872385.1:p.Glu160Ter, XP_024304016.1:p.Glu206Ter, XP_047281951.1:p.Glu196Ter, XP_047281952.1:p.Glu213Ter, XP_047281950.1:p.Glu171Ter, XP_047281949.1:p.Glu207Ter

                      11.

                      rs1474412747 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        10:27211060 (GRCh38)
                        10:27499989 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:27211059:T:C
                        Gene:
                        ACBD5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000015/4 (TOPMED)
                        HGVS:
                        NC_000010.11:g.27211060T>C, NC_000010.10:g.27499989T>C, NG_032960.3:g.42615A>G, NM_145698.5:c.958A>G, NM_145698.4:c.958A>G, NM_145698.3:c.958A>G, NM_001042473.4:c.853A>G, NM_001042473.3:c.853A>G, NM_001042473.2:c.853A>G, NM_001271512.3:c.952A>G, NM_001271512.2:c.952A>G, NM_001271512.1:c.952A>G, NM_001352579.2:c.853A>G, NM_001352579.1:c.853A>G, NM_001352574.2:c.886A>G, NM_001352574.1:c.886A>G, NM_001352575.2:c.886A>G, NM_001352575.1:c.886A>G, NM_001352576.2:c.886A>G, NM_001352576.1:c.886A>G, NM_001352577.2:c.853A>G, NM_001352577.1:c.853A>G, NM_001352578.2:c.853A>G, NM_001352578.1:c.853A>G, NM_001352580.2:c.799A>G, NM_001352580.1:c.799A>G, NM_001301251.2:c.631A>G, NM_001301251.1:c.631A>G, NM_001301253.2:c.631A>G, NM_001301253.1:c.631A>G, NM_001301252.2:c.631A>G, NM_001301252.1:c.631A>G, NM_001352582.2:c.649A>G, NM_001352582.1:c.649A>G, NM_001301254.2:c.427A>G, NM_001301254.1:c.427A>G, NM_001352571.1:c.985A>G, NM_001352569.1:c.991A>G, NM_001352568.1:c.1012A>G, NM_001352586.1:c.781A>G, NM_001352572.1:c.979A>G, NM_001352587.1:c.748A>G, NM_001352573.1:c.937A>G, NM_001352585.1:c.664A>G, NM_001352584.1:c.631A>G, NM_001352583.1:c.631A>G, NM_001352581.1:c.787A>G, NM_001352588.1:c.754A>G, NM_001352570.1:c.958A>G, XM_017016894.3:c.649A>G, XM_017016894.2:c.946A>G, XM_017016894.1:c.946A>G, XM_017016888.3:c.991A>G, XM_017016888.2:c.991A>G, XM_017016888.1:c.991A>G, XM_017016887.3:c.1012A>G, XM_017016887.2:c.1012A>G, XM_017016887.1:c.1012A>G, XM_017016889.3:c.979A>G, XM_017016889.2:c.979A>G, XM_017016889.1:c.979A>G, XM_017016895.3:c.886A>G, XM_017016895.2:c.886A>G, XM_017016895.1:c.886A>G, XM_017016884.3:c.886A>G, XM_017016884.2:c.1183A>G, XM_017016884.1:c.1183A>G, XM_017016885.3:c.853A>G, XM_017016885.2:c.1150A>G, XM_017016885.1:c.1150A>G, XM_017016898.3:c.754A>G, XM_017016898.2:c.754A>G, XM_017016898.1:c.754A>G, XM_017016890.3:c.682A>G, XM_017016890.2:c.979A>G, XM_017016890.1:c.979A>G, XM_017016893.3:c.649A>G, XM_017016893.2:c.946A>G, XM_017016893.1:c.946A>G, NR_073197.2:n.1217A>G, NR_073196.2:n.1013A>G, XM_024448249.2:c.775A>G, XM_024448249.1:c.775A>G, XM_017016896.2:c.853A>G, XM_017016896.1:c.853A>G, XM_024448248.2:c.787A>G, XM_024448248.1:c.787A>G, XM_047425995.1:c.961A>G, NR_073197.1:n.1217A>G, NR_073196.1:n.1013A>G, XM_047425996.1:c.808A>G, NR_024150.1:n.903A>G, NR_073195.1:n.893A>G, XM_047425994.1:c.682A>G, XM_047425993.1:c.994A>G, NP_663736.2:p.Asn320Asp, NP_001035938.1:p.Asn285Asp, NP_001258441.1:p.Asn318Asp, NP_001339508.1:p.Asn285Asp, NP_001339503.1:p.Asn296Asp, NP_001339504.1:p.Asn296Asp, NP_001339505.1:p.Asn296Asp, NP_001339506.1:p.Asn285Asp, NP_001339507.1:p.Asn285Asp, NP_001339509.1:p.Asn267Asp, NP_001288180.1:p.Asn211Asp, NP_001288182.1:p.Asn211Asp, NP_001288181.1:p.Asn211Asp, NP_001339511.1:p.Asn217Asp, NP_001288183.1:p.Asn143Asp, NP_001339500.1:p.Asn329Asp, NP_001339498.1:p.Asn331Asp, NP_001339497.1:p.Asn338Asp, NP_001339515.1:p.Asn261Asp, NP_001339501.1:p.Asn327Asp, NP_001339516.1:p.Asn250Asp, NP_001339502.1:p.Asn313Asp, NP_001339514.1:p.Asn222Asp, NP_001339513.1:p.Asn211Asp, NP_001339512.1:p.Asn211Asp, NP_001339510.1:p.Asn263Asp, NP_001339517.1:p.Asn252Asp, NP_001339499.1:p.Asn320Asp, XP_016872383.2:p.Asn217Asp, XP_016872377.1:p.Asn331Asp, XP_016872376.1:p.Asn338Asp, XP_016872378.1:p.Asn327Asp, XP_016872384.1:p.Asn296Asp, XP_016872373.2:p.Asn296Asp, XP_016872374.2:p.Asn285Asp, XP_016872387.1:p.Asn252Asp, XP_016872379.2:p.Asn228Asp, XP_016872382.2:p.Asn217Asp, XP_024304017.1:p.Asn259Asp, XP_016872385.1:p.Asn285Asp, XP_024304016.1:p.Asn263Asp, XP_047281951.1:p.Asn321Asp, XP_047281952.1:p.Asn270Asp, XP_047281950.1:p.Asn228Asp, XP_047281949.1:p.Asn332Asp

                        12.

                        rs1474016602 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          10:27231781 (GRCh38)
                          10:27520710 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:27231780:T:G
                          Gene:
                          ACBD5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000028/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000010.11:g.27231781T>G, NC_000010.10:g.27520710T>G, NG_032960.3:g.21894A>C, NM_145698.5:c.342A>C, NM_145698.4:c.342A>C, NM_145698.3:c.342A>C, NM_001042473.4:c.237A>C, NM_001042473.3:c.237A>C, NM_001042473.2:c.237A>C, NM_001271512.3:c.336A>C, NM_001271512.2:c.336A>C, NM_001271512.1:c.336A>C, NM_001352579.2:c.237A>C, NM_001352579.1:c.237A>C, NM_001352574.2:c.237A>C, NM_001352574.1:c.237A>C, NM_001352575.2:c.237A>C, NM_001352575.1:c.237A>C, NM_001352576.2:c.237A>C, NM_001352576.1:c.237A>C, NM_001352577.2:c.237A>C, NM_001352577.1:c.237A>C, NM_001352578.2:c.237A>C, NM_001352578.1:c.237A>C, NM_001352580.2:c.237A>C, NM_001352580.1:c.237A>C, NM_001301251.2:c.15A>C, NM_001301251.1:c.15A>C, NM_001301253.2:c.15A>C, NM_001301253.1:c.15A>C, NM_001301252.2:c.15A>C, NM_001301252.1:c.15A>C, NM_001352582.2:c.237A>C, NM_001352582.1:c.237A>C, NM_001301254.2:c.15A>C, NM_001301254.1:c.15A>C, NM_001352571.1:c.336A>C, NM_001352569.1:c.342A>C, NM_001352568.1:c.363A>C, NM_001352586.1:c.336A>C, NM_001352572.1:c.363A>C, NM_001352587.1:c.336A>C, NM_001352573.1:c.342A>C, NM_001352585.1:c.15A>C, NM_001352584.1:c.15A>C, NM_001352583.1:c.15A>C, NM_001352581.1:c.342A>C, NM_001352588.1:c.342A>C, NM_001352570.1:c.342A>C, XM_017016894.3:c.237A>C, XM_017016894.2:c.534A>C, XM_017016894.1:c.534A>C, XM_017016888.3:c.342A>C, XM_017016888.2:c.342A>C, XM_017016888.1:c.342A>C, XM_017016887.3:c.363A>C, XM_017016887.2:c.363A>C, XM_017016887.1:c.363A>C, XM_017016889.3:c.363A>C, XM_017016889.2:c.363A>C, XM_017016889.1:c.363A>C, XM_017016895.3:c.237A>C, XM_017016895.2:c.237A>C, XM_017016895.1:c.237A>C, XM_017016884.3:c.237A>C, XM_017016884.2:c.534A>C, XM_017016884.1:c.534A>C, XM_017016885.3:c.237A>C, XM_017016885.2:c.534A>C, XM_017016885.1:c.534A>C, XM_017016898.3:c.342A>C, XM_017016898.2:c.342A>C, XM_017016898.1:c.342A>C, XM_017016890.3:c.237A>C, XM_017016890.2:c.534A>C, XM_017016890.1:c.534A>C, XM_017016893.3:c.237A>C, XM_017016893.2:c.534A>C, XM_017016893.1:c.534A>C, NR_073197.2:n.601A>C, NR_073196.2:n.601A>C, XM_024448249.2:c.363A>C, XM_024448249.1:c.363A>C, XM_017016896.2:c.237A>C, XM_017016896.1:c.237A>C, XM_024448248.2:c.342A>C, XM_024448248.1:c.342A>C, XM_047425995.1:c.345A>C, NR_073197.1:n.601A>C, NR_073196.1:n.601A>C, XM_047425996.1:c.363A>C, NR_024150.1:n.287A>C, NR_073195.1:n.277A>C, XM_047425994.1:c.237A>C, XM_047425993.1:c.345A>C, NP_663736.2:p.Glu114Asp, NP_001035938.1:p.Glu79Asp, NP_001258441.1:p.Glu112Asp, NP_001339508.1:p.Glu79Asp, NP_001339503.1:p.Glu79Asp, NP_001339504.1:p.Glu79Asp, NP_001339505.1:p.Glu79Asp, NP_001339506.1:p.Glu79Asp, NP_001339507.1:p.Glu79Asp, NP_001339509.1:p.Glu79Asp, NP_001288180.1:p.Glu5Asp, NP_001288182.1:p.Glu5Asp, NP_001288181.1:p.Glu5Asp, NP_001339511.1:p.Glu79Asp, NP_001288183.1:p.Glu5Asp, NP_001339500.1:p.Glu112Asp, NP_001339498.1:p.Glu114Asp, NP_001339497.1:p.Glu121Asp, NP_001339515.1:p.Glu112Asp, NP_001339501.1:p.Glu121Asp, NP_001339516.1:p.Glu112Asp, NP_001339502.1:p.Glu114Asp, NP_001339514.1:p.Glu5Asp, NP_001339513.1:p.Glu5Asp, NP_001339512.1:p.Glu5Asp, NP_001339510.1:p.Glu114Asp, NP_001339517.1:p.Glu114Asp, NP_001339499.1:p.Glu114Asp, XP_016872383.2:p.Glu79Asp, XP_016872377.1:p.Glu114Asp, XP_016872376.1:p.Glu121Asp, XP_016872378.1:p.Glu121Asp, XP_016872384.1:p.Glu79Asp, XP_016872373.2:p.Glu79Asp, XP_016872374.2:p.Glu79Asp, XP_016872387.1:p.Glu114Asp, XP_016872379.2:p.Glu79Asp, XP_016872382.2:p.Glu79Asp, XP_024304017.1:p.Glu121Asp, XP_016872385.1:p.Glu79Asp, XP_024304016.1:p.Glu114Asp, XP_047281951.1:p.Glu115Asp, XP_047281952.1:p.Glu121Asp, XP_047281950.1:p.Glu79Asp, XP_047281949.1:p.Glu115Asp

                          13.

                          rs1472013084 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            10:27240320 (GRCh38)
                            10:27529249 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:27240319:A:G
                            Gene:
                            ACBD5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000010.11:g.27240320A>G, NC_000010.10:g.27529249A>G, NG_032960.3:g.13355T>C, NM_145698.5:c.180T>C, NM_145698.4:c.180T>C, NM_145698.3:c.180T>C, NM_001042473.4:c.75T>C, NM_001042473.3:c.75T>C, NM_001042473.2:c.75T>C, NM_001271512.3:c.174T>C, NM_001271512.2:c.174T>C, NM_001271512.1:c.174T>C, NM_001352579.2:c.75T>C, NM_001352579.1:c.75T>C, NM_001352574.2:c.75T>C, NM_001352574.1:c.75T>C, NM_001352575.2:c.75T>C, NM_001352575.1:c.75T>C, NM_001352576.2:c.75T>C, NM_001352576.1:c.75T>C, NM_001352577.2:c.75T>C, NM_001352577.1:c.75T>C, NM_001352578.2:c.75T>C, NM_001352578.1:c.75T>C, NM_001352580.2:c.75T>C, NM_001352580.1:c.75T>C, NM_001301251.2:c.-27T>C, NM_001301251.1:c.-27T>C, NM_001301253.2:c.-27T>C, NM_001301253.1:c.-27T>C, NM_001301252.2:c.-27T>C, NM_001301252.1:c.-27T>C, NM_001352582.2:c.75T>C, NM_001352582.1:c.75T>C, NM_001301254.2:c.-27T>C, NM_001301254.1:c.-27T>C, NM_001352571.1:c.174T>C, NM_001352569.1:c.180T>C, NM_001352568.1:c.201T>C, NM_001352586.1:c.174T>C, NM_001352572.1:c.201T>C, NM_001352587.1:c.174T>C, NM_001352573.1:c.180T>C, NM_001352585.1:c.-27T>C, NM_001352584.1:c.-27T>C, NM_001352583.1:c.-27T>C, NM_001352581.1:c.180T>C, NM_001352588.1:c.180T>C, NM_001352570.1:c.180T>C, XM_017016894.3:c.75T>C, XM_017016894.2:c.372T>C, XM_017016894.1:c.372T>C, XM_017016888.3:c.180T>C, XM_017016888.2:c.180T>C, XM_017016888.1:c.180T>C, XM_017016887.3:c.201T>C, XM_017016887.2:c.201T>C, XM_017016887.1:c.201T>C, XM_017016889.3:c.201T>C, XM_017016889.2:c.201T>C, XM_017016889.1:c.201T>C, XM_017016895.3:c.75T>C, XM_017016895.2:c.75T>C, XM_017016895.1:c.75T>C, XM_017016884.3:c.75T>C, XM_017016884.2:c.372T>C, XM_017016884.1:c.372T>C, XM_017016885.3:c.75T>C, XM_017016885.2:c.372T>C, XM_017016885.1:c.372T>C, XM_017016898.3:c.180T>C, XM_017016898.2:c.180T>C, XM_017016898.1:c.180T>C, XM_017016890.3:c.75T>C, XM_017016890.2:c.372T>C, XM_017016890.1:c.372T>C, XM_017016893.3:c.75T>C, XM_017016893.2:c.372T>C, XM_017016893.1:c.372T>C, NR_073197.2:n.560T>C, NR_073196.2:n.560T>C, XM_024448249.2:c.201T>C, XM_024448249.1:c.201T>C, XM_017016896.2:c.75T>C, XM_017016896.1:c.75T>C, XM_024448248.2:c.180T>C, XM_024448248.1:c.180T>C, XM_047425995.1:c.183T>C, NR_073197.1:n.560T>C, NR_073196.1:n.560T>C, XM_047425996.1:c.201T>C, NR_024150.1:n.246T>C, NR_073195.1:n.236T>C, XM_047425994.1:c.75T>C, XM_047425993.1:c.183T>C

                            14.

                            rs1468532582 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              10:27208316 (GRCh38)
                              10:27497245 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:27208315:A:C
                              Gene:
                              ACBD5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.27208316A>C, NC_000010.10:g.27497245A>C, NG_032960.3:g.45359T>G, NM_145698.5:c.1334T>G, NM_145698.4:c.1334T>G, NM_145698.3:c.1334T>G, NM_001042473.4:c.1229T>G, NM_001042473.3:c.1229T>G, NM_001042473.2:c.1229T>G, NM_001271512.3:c.1328T>G, NM_001271512.2:c.1328T>G, NM_001271512.1:c.1328T>G, NM_001352579.2:c.1229T>G, NM_001352579.1:c.1229T>G, NM_001352574.2:c.1262T>G, NM_001352574.1:c.1262T>G, NM_001352575.2:c.1262T>G, NM_001352575.1:c.1262T>G, NM_001352576.2:c.1262T>G, NM_001352576.1:c.1262T>G, NM_001352577.2:c.1229T>G, NM_001352577.1:c.1229T>G, NM_001352578.2:c.1229T>G, NM_001352578.1:c.1229T>G, NM_001352580.2:c.1175T>G, NM_001352580.1:c.1175T>G, NM_001301251.2:c.1007T>G, NM_001301251.1:c.1007T>G, NM_001301253.2:c.1007T>G, NM_001301253.1:c.1007T>G, NM_001301252.2:c.1007T>G, NM_001301252.1:c.1007T>G, NM_001352582.2:c.1025T>G, NM_001352582.1:c.1025T>G, NM_001301254.2:c.803T>G, NM_001301254.1:c.803T>G, NM_001352571.1:c.1361T>G, NM_001352569.1:c.1367T>G, NM_001352568.1:c.1388T>G, NM_001352586.1:c.1157T>G, NM_001352572.1:c.1355T>G, NM_001352587.1:c.1124T>G, NM_001352573.1:c.1313T>G, NM_001352585.1:c.1040T>G, NM_001352584.1:c.1007T>G, NM_001352583.1:c.1007T>G, NM_001352581.1:c.1163T>G, NM_001352588.1:c.1130T>G, NM_001352570.1:c.1334T>G, XM_017016894.3:c.1025T>G, XM_017016894.2:c.1322T>G, XM_017016894.1:c.1322T>G, XM_017016888.3:c.1367T>G, XM_017016888.2:c.1367T>G, XM_017016888.1:c.1367T>G, XM_017016887.3:c.1388T>G, XM_017016887.2:c.1388T>G, XM_017016887.1:c.1388T>G, XM_017016889.3:c.1355T>G, XM_017016889.2:c.1355T>G, XM_017016889.1:c.1355T>G, XM_017016895.3:c.1262T>G, XM_017016895.2:c.1262T>G, XM_017016895.1:c.1262T>G, XM_017016884.3:c.1262T>G, XM_017016884.2:c.1559T>G, XM_017016884.1:c.1559T>G, XM_017016885.3:c.1229T>G, XM_017016885.2:c.1526T>G, XM_017016885.1:c.1526T>G, XM_017016898.3:c.1130T>G, XM_017016898.2:c.1130T>G, XM_017016898.1:c.1130T>G, XM_017016890.3:c.1058T>G, XM_017016890.2:c.1355T>G, XM_017016890.1:c.1355T>G, XM_017016893.3:c.1025T>G, XM_017016893.2:c.1322T>G, XM_017016893.1:c.1322T>G, NR_073197.2:n.1593T>G, NR_073196.2:n.1389T>G, XM_024448249.2:c.1151T>G, XM_024448249.1:c.1151T>G, XM_017016896.2:c.1229T>G, XM_017016896.1:c.1229T>G, XM_024448248.2:c.1163T>G, XM_024448248.1:c.1163T>G, XM_047425995.1:c.1337T>G, NR_073197.1:n.1593T>G, NR_073196.1:n.1389T>G, XM_047425996.1:c.1184T>G, NR_024150.1:n.1279T>G, NR_073195.1:n.1269T>G, XM_047425994.1:c.1058T>G, XM_047425993.1:c.1370T>G, NP_663736.2:p.Met445Arg, NP_001035938.1:p.Met410Arg, NP_001258441.1:p.Met443Arg, NP_001339508.1:p.Met410Arg, NP_001339503.1:p.Met421Arg, NP_001339504.1:p.Met421Arg, NP_001339505.1:p.Met421Arg, NP_001339506.1:p.Met410Arg, NP_001339507.1:p.Met410Arg, NP_001339509.1:p.Met392Arg, NP_001288180.1:p.Met336Arg, NP_001288182.1:p.Met336Arg, NP_001288181.1:p.Met336Arg, NP_001339511.1:p.Met342Arg, NP_001288183.1:p.Met268Arg, NP_001339500.1:p.Met454Arg, NP_001339498.1:p.Met456Arg, NP_001339497.1:p.Met463Arg, NP_001339515.1:p.Met386Arg, NP_001339501.1:p.Met452Arg, NP_001339516.1:p.Met375Arg, NP_001339502.1:p.Met438Arg, NP_001339514.1:p.Met347Arg, NP_001339513.1:p.Met336Arg, NP_001339512.1:p.Met336Arg, NP_001339510.1:p.Met388Arg, NP_001339517.1:p.Met377Arg, NP_001339499.1:p.Met445Arg, XP_016872383.2:p.Met342Arg, XP_016872377.1:p.Met456Arg, XP_016872376.1:p.Met463Arg, XP_016872378.1:p.Met452Arg, XP_016872384.1:p.Met421Arg, XP_016872373.2:p.Met421Arg, XP_016872374.2:p.Met410Arg, XP_016872387.1:p.Met377Arg, XP_016872379.2:p.Met353Arg, XP_016872382.2:p.Met342Arg, XP_024304017.1:p.Met384Arg, XP_016872385.1:p.Met410Arg, XP_024304016.1:p.Met388Arg, XP_047281951.1:p.Met446Arg, XP_047281952.1:p.Met395Arg, XP_047281950.1:p.Met353Arg, XP_047281949.1:p.Met457Arg

                              15.

                              rs1467895764 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:27218092 (GRCh38)
                                10:27507021 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:27218091:T:C
                                Gene:
                                ACBD5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.27218092T>C, NC_000010.10:g.27507021T>C, NG_032960.3:g.35583A>G, NM_145698.5:c.717A>G, NM_145698.4:c.717A>G, NM_145698.3:c.717A>G, NM_001042473.4:c.612A>G, NM_001042473.3:c.612A>G, NM_001042473.2:c.612A>G, NM_001271512.3:c.711A>G, NM_001271512.2:c.711A>G, NM_001271512.1:c.711A>G, NM_001352579.2:c.612A>G, NM_001352579.1:c.612A>G, NM_001352574.2:c.645A>G, NM_001352574.1:c.645A>G, NM_001352575.2:c.645A>G, NM_001352575.1:c.645A>G, NM_001352576.2:c.645A>G, NM_001352576.1:c.645A>G, NM_001352577.2:c.612A>G, NM_001352577.1:c.612A>G, NM_001352578.2:c.612A>G, NM_001352578.1:c.612A>G, NM_001352580.2:c.558A>G, NM_001352580.1:c.558A>G, NM_001301251.2:c.390A>G, NM_001301251.1:c.390A>G, NM_001301253.2:c.390A>G, NM_001301253.1:c.390A>G, NM_001301252.2:c.390A>G, NM_001301252.1:c.390A>G, NM_001352571.1:c.744A>G, NM_001352569.1:c.750A>G, NM_001352568.1:c.771A>G, NM_001352572.1:c.738A>G, NM_001352573.1:c.696A>G, NM_001352585.1:c.423A>G, NM_001352584.1:c.390A>G, NM_001352583.1:c.390A>G, NM_001352570.1:c.717A>G, XM_017016888.3:c.750A>G, XM_017016888.2:c.750A>G, XM_017016888.1:c.750A>G, XM_017016887.3:c.771A>G, XM_017016887.2:c.771A>G, XM_017016887.1:c.771A>G, XM_017016889.3:c.738A>G, XM_017016889.2:c.738A>G, XM_017016889.1:c.738A>G, XM_017016895.3:c.645A>G, XM_017016895.2:c.645A>G, XM_017016895.1:c.645A>G, XM_017016884.3:c.645A>G, XM_017016884.2:c.942A>G, XM_017016884.1:c.942A>G, XM_017016885.3:c.612A>G, XM_017016885.2:c.909A>G, XM_017016885.1:c.909A>G, NR_073197.2:n.976A>G, XM_017016896.2:c.612A>G, XM_017016896.1:c.612A>G, XM_047425995.1:c.720A>G, NR_073197.1:n.976A>G, NR_024150.1:n.662A>G, NR_073195.1:n.652A>G, XM_047425993.1:c.753A>G, NP_663736.2:p.Ile239Met, NP_001035938.1:p.Ile204Met, NP_001258441.1:p.Ile237Met, NP_001339508.1:p.Ile204Met, NP_001339503.1:p.Ile215Met, NP_001339504.1:p.Ile215Met, NP_001339505.1:p.Ile215Met, NP_001339506.1:p.Ile204Met, NP_001339507.1:p.Ile204Met, NP_001339509.1:p.Ile186Met, NP_001288180.1:p.Ile130Met, NP_001288182.1:p.Ile130Met, NP_001288181.1:p.Ile130Met, NP_001339500.1:p.Ile248Met, NP_001339498.1:p.Ile250Met, NP_001339497.1:p.Ile257Met, NP_001339501.1:p.Ile246Met, NP_001339502.1:p.Ile232Met, NP_001339514.1:p.Ile141Met, NP_001339513.1:p.Ile130Met, NP_001339512.1:p.Ile130Met, NP_001339499.1:p.Ile239Met, XP_016872377.1:p.Ile250Met, XP_016872376.1:p.Ile257Met, XP_016872378.1:p.Ile246Met, XP_016872384.1:p.Ile215Met, XP_016872373.2:p.Ile215Met, XP_016872374.2:p.Ile204Met, XP_016872385.1:p.Ile204Met, XP_047281951.1:p.Ile240Met, XP_047281949.1:p.Ile251Met

                                16.

                                rs1466598602 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  10:27210849 (GRCh38)
                                  10:27499778 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:27210848:T:G
                                  Gene:
                                  ACBD5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.27210849T>G, NC_000010.10:g.27499778T>G, NG_032960.3:g.42826A>C, NM_145698.5:c.1169A>C, NM_145698.4:c.1169A>C, NM_145698.3:c.1169A>C, NM_001042473.4:c.1064A>C, NM_001042473.3:c.1064A>C, NM_001042473.2:c.1064A>C, NM_001271512.3:c.1163A>C, NM_001271512.2:c.1163A>C, NM_001271512.1:c.1163A>C, NM_001352579.2:c.1064A>C, NM_001352579.1:c.1064A>C, NM_001352574.2:c.1097A>C, NM_001352574.1:c.1097A>C, NM_001352575.2:c.1097A>C, NM_001352575.1:c.1097A>C, NM_001352576.2:c.1097A>C, NM_001352576.1:c.1097A>C, NM_001352577.2:c.1064A>C, NM_001352577.1:c.1064A>C, NM_001352578.2:c.1064A>C, NM_001352578.1:c.1064A>C, NM_001352580.2:c.1010A>C, NM_001352580.1:c.1010A>C, NM_001301251.2:c.842A>C, NM_001301251.1:c.842A>C, NM_001301253.2:c.842A>C, NM_001301253.1:c.842A>C, NM_001301252.2:c.842A>C, NM_001301252.1:c.842A>C, NM_001352582.2:c.860A>C, NM_001352582.1:c.860A>C, NM_001301254.2:c.638A>C, NM_001301254.1:c.638A>C, NM_001352571.1:c.1196A>C, NM_001352569.1:c.1202A>C, NM_001352568.1:c.1223A>C, NM_001352586.1:c.992A>C, NM_001352572.1:c.1190A>C, NM_001352587.1:c.959A>C, NM_001352573.1:c.1148A>C, NM_001352585.1:c.875A>C, NM_001352584.1:c.842A>C, NM_001352583.1:c.842A>C, NM_001352581.1:c.998A>C, NM_001352588.1:c.965A>C, NM_001352570.1:c.1169A>C, XM_017016894.3:c.860A>C, XM_017016894.2:c.1157A>C, XM_017016894.1:c.1157A>C, XM_017016888.3:c.1202A>C, XM_017016888.2:c.1202A>C, XM_017016888.1:c.1202A>C, XM_017016887.3:c.1223A>C, XM_017016887.2:c.1223A>C, XM_017016887.1:c.1223A>C, XM_017016889.3:c.1190A>C, XM_017016889.2:c.1190A>C, XM_017016889.1:c.1190A>C, XM_017016895.3:c.1097A>C, XM_017016895.2:c.1097A>C, XM_017016895.1:c.1097A>C, XM_017016884.3:c.1097A>C, XM_017016884.2:c.1394A>C, XM_017016884.1:c.1394A>C, XM_017016885.3:c.1064A>C, XM_017016885.2:c.1361A>C, XM_017016885.1:c.1361A>C, XM_017016898.3:c.965A>C, XM_017016898.2:c.965A>C, XM_017016898.1:c.965A>C, XM_017016890.3:c.893A>C, XM_017016890.2:c.1190A>C, XM_017016890.1:c.1190A>C, XM_017016893.3:c.860A>C, XM_017016893.2:c.1157A>C, XM_017016893.1:c.1157A>C, NR_073197.2:n.1428A>C, NR_073196.2:n.1224A>C, XM_024448249.2:c.986A>C, XM_024448249.1:c.986A>C, XM_017016896.2:c.1064A>C, XM_017016896.1:c.1064A>C, XM_024448248.2:c.998A>C, XM_024448248.1:c.998A>C, XM_047425995.1:c.1172A>C, NR_073197.1:n.1428A>C, NR_073196.1:n.1224A>C, XM_047425996.1:c.1019A>C, NR_024150.1:n.1114A>C, NR_073195.1:n.1104A>C, XM_047425994.1:c.893A>C, XM_047425993.1:c.1205A>C, NP_663736.2:p.Glu390Ala, NP_001035938.1:p.Glu355Ala, NP_001258441.1:p.Glu388Ala, NP_001339508.1:p.Glu355Ala, NP_001339503.1:p.Glu366Ala, NP_001339504.1:p.Glu366Ala, NP_001339505.1:p.Glu366Ala, NP_001339506.1:p.Glu355Ala, NP_001339507.1:p.Glu355Ala, NP_001339509.1:p.Glu337Ala, NP_001288180.1:p.Glu281Ala, NP_001288182.1:p.Glu281Ala, NP_001288181.1:p.Glu281Ala, NP_001339511.1:p.Glu287Ala, NP_001288183.1:p.Glu213Ala, NP_001339500.1:p.Glu399Ala, NP_001339498.1:p.Glu401Ala, NP_001339497.1:p.Glu408Ala, NP_001339515.1:p.Glu331Ala, NP_001339501.1:p.Glu397Ala, NP_001339516.1:p.Glu320Ala, NP_001339502.1:p.Glu383Ala, NP_001339514.1:p.Glu292Ala, NP_001339513.1:p.Glu281Ala, NP_001339512.1:p.Glu281Ala, NP_001339510.1:p.Glu333Ala, NP_001339517.1:p.Glu322Ala, NP_001339499.1:p.Glu390Ala, XP_016872383.2:p.Glu287Ala, XP_016872377.1:p.Glu401Ala, XP_016872376.1:p.Glu408Ala, XP_016872378.1:p.Glu397Ala, XP_016872384.1:p.Glu366Ala, XP_016872373.2:p.Glu366Ala, XP_016872374.2:p.Glu355Ala, XP_016872387.1:p.Glu322Ala, XP_016872379.2:p.Glu298Ala, XP_016872382.2:p.Glu287Ala, XP_024304017.1:p.Glu329Ala, XP_016872385.1:p.Glu355Ala, XP_024304016.1:p.Glu333Ala, XP_047281951.1:p.Glu391Ala, XP_047281952.1:p.Glu340Ala, XP_047281950.1:p.Glu298Ala, XP_047281949.1:p.Glu402Ala

                                  17.

                                  rs1466557299 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:27240449 (GRCh38)
                                    10:27529378 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:27240448:G:A
                                    Gene:
                                    ACBD5 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.27240449G>A, NC_000010.10:g.27529378G>A, NG_032960.3:g.13226C>T, NM_145698.5:c.51C>T, NM_145698.4:c.51C>T, NM_145698.3:c.51C>T, NM_001042473.4:c.-55C>T, NM_001042473.3:c.-55C>T, NM_001042473.2:c.-55C>T, NM_001271512.3:c.45C>T, NM_001271512.2:c.45C>T, NM_001271512.1:c.45C>T, NM_001352579.2:c.-55C>T, NM_001352579.1:c.-55C>T, NM_001352574.2:c.-55C>T, NM_001352574.1:c.-55C>T, NM_001352575.2:c.-55C>T, NM_001352575.1:c.-55C>T, NM_001352576.2:c.-55C>T, NM_001352576.1:c.-55C>T, NM_001352577.2:c.-55C>T, NM_001352577.1:c.-55C>T, NM_001352578.2:c.-55C>T, NM_001352578.1:c.-55C>T, NM_001352580.2:c.-55C>T, NM_001352580.1:c.-55C>T, NM_001301251.2:c.-156C>T, NM_001301251.1:c.-156C>T, NM_001301253.2:c.-156C>T, NM_001301253.1:c.-156C>T, NM_001301252.2:c.-156C>T, NM_001301252.1:c.-156C>T, NM_001352582.2:c.-55C>T, NM_001352582.1:c.-55C>T, NM_001301254.2:c.-156C>T, NM_001301254.1:c.-156C>T, NM_001352571.1:c.45C>T, NM_001352569.1:c.51C>T, NM_001352568.1:c.72C>T, NM_001352586.1:c.45C>T, NM_001352572.1:c.72C>T, NM_001352587.1:c.45C>T, NM_001352573.1:c.51C>T, NM_001352585.1:c.-156C>T, NM_001352584.1:c.-156C>T, NM_001352583.1:c.-156C>T, NM_001352581.1:c.51C>T, NM_001352588.1:c.51C>T, NM_001352570.1:c.51C>T, XM_017016894.3:c.-55C>T, XM_017016894.2:c.243C>T, XM_017016894.1:c.243C>T, XM_017016888.3:c.51C>T, XM_017016888.2:c.51C>T, XM_017016888.1:c.51C>T, XM_017016887.3:c.72C>T, XM_017016887.2:c.72C>T, XM_017016887.1:c.72C>T, XM_017016889.3:c.72C>T, XM_017016889.2:c.72C>T, XM_017016889.1:c.72C>T, XM_017016895.3:c.-55C>T, XM_017016895.2:c.-55C>T, XM_017016895.1:c.-55C>T, XM_017016884.3:c.-55C>T, XM_017016884.2:c.243C>T, XM_017016884.1:c.243C>T, XM_017016885.3:c.-55C>T, XM_017016885.2:c.243C>T, XM_017016885.1:c.243C>T, XM_017016898.3:c.51C>T, XM_017016898.2:c.51C>T, XM_017016898.1:c.51C>T, XM_017016890.3:c.-55C>T, XM_017016890.2:c.243C>T, XM_017016890.1:c.243C>T, XM_017016893.3:c.-55C>T, XM_017016893.2:c.243C>T, XM_017016893.1:c.243C>T, NR_073197.2:n.431C>T, NR_073196.2:n.431C>T, XM_024448249.2:c.72C>T, XM_024448249.1:c.72C>T, XM_017016896.2:c.-55C>T, XM_017016896.1:c.-55C>T, XM_024448248.2:c.51C>T, XM_024448248.1:c.51C>T, XM_047425995.1:c.54C>T, NR_073197.1:n.431C>T, NR_073196.1:n.431C>T, XM_047425996.1:c.72C>T, NR_024150.1:n.117C>T, NR_073195.1:n.107C>T, XM_047425994.1:c.-55C>T, XM_047425993.1:c.54C>T

                                    18.

                                    rs1466503372 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      10:27235144 (GRCh38)
                                      10:27524073 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:27235143:G:T
                                      Gene:
                                      ACBD5 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.27235144G>T, NC_000010.10:g.27524073G>T, NG_032960.3:g.18531C>A, NM_145698.5:c.250C>A, NM_145698.4:c.250C>A, NM_145698.3:c.250C>A, NM_001042473.4:c.145C>A, NM_001042473.3:c.145C>A, NM_001042473.2:c.145C>A, NM_001271512.3:c.244C>A, NM_001271512.2:c.244C>A, NM_001271512.1:c.244C>A, NM_001352579.2:c.145C>A, NM_001352579.1:c.145C>A, NM_001352574.2:c.145C>A, NM_001352574.1:c.145C>A, NM_001352575.2:c.145C>A, NM_001352575.1:c.145C>A, NM_001352576.2:c.145C>A, NM_001352576.1:c.145C>A, NM_001352577.2:c.145C>A, NM_001352577.1:c.145C>A, NM_001352578.2:c.145C>A, NM_001352578.1:c.145C>A, NM_001352580.2:c.145C>A, NM_001352580.1:c.145C>A, NM_001352582.2:c.145C>A, NM_001352582.1:c.145C>A, NM_001352571.1:c.244C>A, NM_001352569.1:c.250C>A, NM_001352568.1:c.271C>A, NM_001352586.1:c.244C>A, NM_001352572.1:c.271C>A, NM_001352587.1:c.244C>A, NM_001352573.1:c.250C>A, NM_001352581.1:c.250C>A, NM_001352588.1:c.250C>A, NM_001352570.1:c.250C>A, XM_017016894.3:c.145C>A, XM_017016894.2:c.442C>A, XM_017016894.1:c.442C>A, XM_017016888.3:c.250C>A, XM_017016888.2:c.250C>A, XM_017016888.1:c.250C>A, XM_017016887.3:c.271C>A, XM_017016887.2:c.271C>A, XM_017016887.1:c.271C>A, XM_017016889.3:c.271C>A, XM_017016889.2:c.271C>A, XM_017016889.1:c.271C>A, XM_017016895.3:c.145C>A, XM_017016895.2:c.145C>A, XM_017016895.1:c.145C>A, XM_017016884.3:c.145C>A, XM_017016884.2:c.442C>A, XM_017016884.1:c.442C>A, XM_017016885.3:c.145C>A, XM_017016885.2:c.442C>A, XM_017016885.1:c.442C>A, XM_017016898.3:c.250C>A, XM_017016898.2:c.250C>A, XM_017016898.1:c.250C>A, XM_017016890.3:c.145C>A, XM_017016890.2:c.442C>A, XM_017016890.1:c.442C>A, XM_017016893.3:c.145C>A, XM_017016893.2:c.442C>A, XM_017016893.1:c.442C>A, XM_024448249.2:c.271C>A, XM_024448249.1:c.271C>A, XM_017016896.2:c.145C>A, XM_017016896.1:c.145C>A, XM_024448248.2:c.250C>A, XM_024448248.1:c.250C>A, XM_047425995.1:c.253C>A, XM_047425996.1:c.271C>A, XM_047425994.1:c.145C>A, XM_047425993.1:c.253C>A, NP_663736.2:p.Pro84Thr, NP_001035938.1:p.Pro49Thr, NP_001258441.1:p.Pro82Thr, NP_001339508.1:p.Pro49Thr, NP_001339503.1:p.Pro49Thr, NP_001339504.1:p.Pro49Thr, NP_001339505.1:p.Pro49Thr, NP_001339506.1:p.Pro49Thr, NP_001339507.1:p.Pro49Thr, NP_001339509.1:p.Pro49Thr, NP_001339511.1:p.Pro49Thr, NP_001339500.1:p.Pro82Thr, NP_001339498.1:p.Pro84Thr, NP_001339497.1:p.Pro91Thr, NP_001339515.1:p.Pro82Thr, NP_001339501.1:p.Pro91Thr, NP_001339516.1:p.Pro82Thr, NP_001339502.1:p.Pro84Thr, NP_001339510.1:p.Pro84Thr, NP_001339517.1:p.Pro84Thr, NP_001339499.1:p.Pro84Thr, XP_016872383.2:p.Pro49Thr, XP_016872377.1:p.Pro84Thr, XP_016872376.1:p.Pro91Thr, XP_016872378.1:p.Pro91Thr, XP_016872384.1:p.Pro49Thr, XP_016872373.2:p.Pro49Thr, XP_016872374.2:p.Pro49Thr, XP_016872387.1:p.Pro84Thr, XP_016872379.2:p.Pro49Thr, XP_016872382.2:p.Pro49Thr, XP_024304017.1:p.Pro91Thr, XP_016872385.1:p.Pro49Thr, XP_024304016.1:p.Pro84Thr, XP_047281951.1:p.Pro85Thr, XP_047281952.1:p.Pro91Thr, XP_047281950.1:p.Pro49Thr, XP_047281949.1:p.Pro85Thr

                                      19.

                                      rs1465331573 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        10:27208276 (GRCh38)
                                        10:27497205 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:27208275:C:A,NC_000010.11:27208275:C:T
                                        Gene:
                                        ACBD5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.27208276C>A, NC_000010.11:g.27208276C>T, NC_000010.10:g.27497205C>A, NC_000010.10:g.27497205C>T, NG_032960.3:g.45399G>T, NG_032960.3:g.45399G>A, NM_145698.5:c.1374G>T, NM_145698.5:c.1374G>A, NM_145698.4:c.1374G>T, NM_145698.4:c.1374G>A, NM_145698.3:c.1374G>T, NM_145698.3:c.1374G>A, NM_001042473.4:c.1269G>T, NM_001042473.4:c.1269G>A, NM_001042473.3:c.1269G>T, NM_001042473.3:c.1269G>A, NM_001042473.2:c.1269G>T, NM_001042473.2:c.1269G>A, NM_001271512.3:c.1368G>T, NM_001271512.3:c.1368G>A, NM_001271512.2:c.1368G>T, NM_001271512.2:c.1368G>A, NM_001271512.1:c.1368G>T, NM_001271512.1:c.1368G>A, NM_001352579.2:c.1269G>T, NM_001352579.2:c.1269G>A, NM_001352579.1:c.1269G>T, NM_001352579.1:c.1269G>A, NM_001352574.2:c.1302G>T, NM_001352574.2:c.1302G>A, NM_001352574.1:c.1302G>T, NM_001352574.1:c.1302G>A, NM_001352575.2:c.1302G>T, NM_001352575.2:c.1302G>A, NM_001352575.1:c.1302G>T, NM_001352575.1:c.1302G>A, NM_001352576.2:c.1302G>T, NM_001352576.2:c.1302G>A, NM_001352576.1:c.1302G>T, NM_001352576.1:c.1302G>A, NM_001352577.2:c.1269G>T, NM_001352577.2:c.1269G>A, NM_001352577.1:c.1269G>T, NM_001352577.1:c.1269G>A, NM_001352578.2:c.1269G>T, NM_001352578.2:c.1269G>A, NM_001352578.1:c.1269G>T, NM_001352578.1:c.1269G>A, NM_001352580.2:c.1215G>T, NM_001352580.2:c.1215G>A, NM_001352580.1:c.1215G>T, NM_001352580.1:c.1215G>A, NM_001301251.2:c.1047G>T, NM_001301251.2:c.1047G>A, NM_001301251.1:c.1047G>T, NM_001301251.1:c.1047G>A, NM_001301253.2:c.1047G>T, NM_001301253.2:c.1047G>A, NM_001301253.1:c.1047G>T, NM_001301253.1:c.1047G>A, NM_001301252.2:c.1047G>T, NM_001301252.2:c.1047G>A, NM_001301252.1:c.1047G>T, NM_001301252.1:c.1047G>A, NM_001352582.2:c.1065G>T, NM_001352582.2:c.1065G>A, NM_001352582.1:c.1065G>T, NM_001352582.1:c.1065G>A, NM_001301254.2:c.843G>T, NM_001301254.2:c.843G>A, NM_001301254.1:c.843G>T, NM_001301254.1:c.843G>A, NM_001352571.1:c.1401G>T, NM_001352571.1:c.1401G>A, NM_001352569.1:c.1407G>T, NM_001352569.1:c.1407G>A, NM_001352568.1:c.1428G>T, NM_001352568.1:c.1428G>A, NM_001352586.1:c.1197G>T, NM_001352586.1:c.1197G>A, NM_001352572.1:c.1395G>T, NM_001352572.1:c.1395G>A, NM_001352587.1:c.1164G>T, NM_001352587.1:c.1164G>A, NM_001352573.1:c.1353G>T, NM_001352573.1:c.1353G>A, NM_001352585.1:c.1080G>T, NM_001352585.1:c.1080G>A, NM_001352584.1:c.1047G>T, NM_001352584.1:c.1047G>A, NM_001352583.1:c.1047G>T, NM_001352583.1:c.1047G>A, NM_001352581.1:c.1203G>T, NM_001352581.1:c.1203G>A, NM_001352588.1:c.1170G>T, NM_001352588.1:c.1170G>A, NM_001352570.1:c.1374G>T, NM_001352570.1:c.1374G>A, XM_017016894.3:c.1065G>T, XM_017016894.3:c.1065G>A, XM_017016894.2:c.1362G>T, XM_017016894.2:c.1362G>A, XM_017016894.1:c.1362G>T, XM_017016894.1:c.1362G>A, XM_017016888.3:c.1407G>T, XM_017016888.3:c.1407G>A, XM_017016888.2:c.1407G>T, XM_017016888.2:c.1407G>A, XM_017016888.1:c.1407G>T, XM_017016888.1:c.1407G>A, XM_017016887.3:c.1428G>T, XM_017016887.3:c.1428G>A, XM_017016887.2:c.1428G>T, XM_017016887.2:c.1428G>A, XM_017016887.1:c.1428G>T, XM_017016887.1:c.1428G>A, XM_017016889.3:c.1395G>T, XM_017016889.3:c.1395G>A, XM_017016889.2:c.1395G>T, XM_017016889.2:c.1395G>A, XM_017016889.1:c.1395G>T, XM_017016889.1:c.1395G>A, XM_017016895.3:c.1302G>T, XM_017016895.3:c.1302G>A, XM_017016895.2:c.1302G>T, XM_017016895.2:c.1302G>A, XM_017016895.1:c.1302G>T, XM_017016895.1:c.1302G>A, XM_017016884.3:c.1302G>T, XM_017016884.3:c.1302G>A, XM_017016884.2:c.1599G>T, XM_017016884.2:c.1599G>A, XM_017016884.1:c.1599G>T, XM_017016884.1:c.1599G>A, XM_017016885.3:c.1269G>T, XM_017016885.3:c.1269G>A, XM_017016885.2:c.1566G>T, XM_017016885.2:c.1566G>A, XM_017016885.1:c.1566G>T, XM_017016885.1:c.1566G>A, XM_017016898.3:c.1170G>T, XM_017016898.3:c.1170G>A, XM_017016898.2:c.1170G>T, XM_017016898.2:c.1170G>A, XM_017016898.1:c.1170G>T, XM_017016898.1:c.1170G>A, XM_017016890.3:c.1098G>T, XM_017016890.3:c.1098G>A, XM_017016890.2:c.1395G>T, XM_017016890.2:c.1395G>A, XM_017016890.1:c.1395G>T, XM_017016890.1:c.1395G>A, XM_017016893.3:c.1065G>T, XM_017016893.3:c.1065G>A, XM_017016893.2:c.1362G>T, XM_017016893.2:c.1362G>A, XM_017016893.1:c.1362G>T, XM_017016893.1:c.1362G>A, NR_073197.2:n.1633G>T, NR_073197.2:n.1633G>A, NR_073196.2:n.1429G>T, NR_073196.2:n.1429G>A, XM_024448249.2:c.1191G>T, XM_024448249.2:c.1191G>A, XM_024448249.1:c.1191G>T, XM_024448249.1:c.1191G>A, XM_017016896.2:c.1269G>T, XM_017016896.2:c.1269G>A, XM_017016896.1:c.1269G>T, XM_017016896.1:c.1269G>A, XM_024448248.2:c.1203G>T, XM_024448248.2:c.1203G>A, XM_024448248.1:c.1203G>T, XM_024448248.1:c.1203G>A, XM_047425995.1:c.1377G>T, XM_047425995.1:c.1377G>A, NR_073197.1:n.1633G>T, NR_073197.1:n.1633G>A, NR_073196.1:n.1429G>T, NR_073196.1:n.1429G>A, XM_047425996.1:c.1224G>T, XM_047425996.1:c.1224G>A, NR_024150.1:n.1319G>T, NR_024150.1:n.1319G>A, NR_073195.1:n.1309G>T, NR_073195.1:n.1309G>A, XM_047425994.1:c.1098G>T, XM_047425994.1:c.1098G>A, XM_047425993.1:c.1410G>T, XM_047425993.1:c.1410G>A

                                        20.

                                        rs1465093167 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:27240355 (GRCh38)
                                          10:27529284 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:27240354:C:T
                                          Gene:
                                          ACBD5 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000029/4 (GnomAD)
                                          HGVS:
                                          NC_000010.11:g.27240355C>T, NC_000010.10:g.27529284C>T, NG_032960.3:g.13320G>A, NM_145698.5:c.145G>A, NM_145698.4:c.145G>A, NM_145698.3:c.145G>A, NM_001042473.4:c.40G>A, NM_001042473.3:c.40G>A, NM_001042473.2:c.40G>A, NM_001271512.3:c.139G>A, NM_001271512.2:c.139G>A, NM_001271512.1:c.139G>A, NM_001352579.2:c.40G>A, NM_001352579.1:c.40G>A, NM_001352574.2:c.40G>A, NM_001352574.1:c.40G>A, NM_001352575.2:c.40G>A, NM_001352575.1:c.40G>A, NM_001352576.2:c.40G>A, NM_001352576.1:c.40G>A, NM_001352577.2:c.40G>A, NM_001352577.1:c.40G>A, NM_001352578.2:c.40G>A, NM_001352578.1:c.40G>A, NM_001352580.2:c.40G>A, NM_001352580.1:c.40G>A, NM_001301251.2:c.-62G>A, NM_001301251.1:c.-62G>A, NM_001301253.2:c.-62G>A, NM_001301253.1:c.-62G>A, NM_001301252.2:c.-62G>A, NM_001301252.1:c.-62G>A, NM_001352582.2:c.40G>A, NM_001352582.1:c.40G>A, NM_001301254.2:c.-62G>A, NM_001301254.1:c.-62G>A, NM_001352571.1:c.139G>A, NM_001352569.1:c.145G>A, NM_001352568.1:c.166G>A, NM_001352586.1:c.139G>A, NM_001352572.1:c.166G>A, NM_001352587.1:c.139G>A, NM_001352573.1:c.145G>A, NM_001352585.1:c.-62G>A, NM_001352584.1:c.-62G>A, NM_001352583.1:c.-62G>A, NM_001352581.1:c.145G>A, NM_001352588.1:c.145G>A, NM_001352570.1:c.145G>A, XM_017016894.3:c.40G>A, XM_017016894.2:c.337G>A, XM_017016894.1:c.337G>A, XM_017016888.3:c.145G>A, XM_017016888.2:c.145G>A, XM_017016888.1:c.145G>A, XM_017016887.3:c.166G>A, XM_017016887.2:c.166G>A, XM_017016887.1:c.166G>A, XM_017016889.3:c.166G>A, XM_017016889.2:c.166G>A, XM_017016889.1:c.166G>A, XM_017016895.3:c.40G>A, XM_017016895.2:c.40G>A, XM_017016895.1:c.40G>A, XM_017016884.3:c.40G>A, XM_017016884.2:c.337G>A, XM_017016884.1:c.337G>A, XM_017016885.3:c.40G>A, XM_017016885.2:c.337G>A, XM_017016885.1:c.337G>A, XM_017016898.3:c.145G>A, XM_017016898.2:c.145G>A, XM_017016898.1:c.145G>A, XM_017016890.3:c.40G>A, XM_017016890.2:c.337G>A, XM_017016890.1:c.337G>A, XM_017016893.3:c.40G>A, XM_017016893.2:c.337G>A, XM_017016893.1:c.337G>A, NR_073197.2:n.525G>A, NR_073196.2:n.525G>A, XM_024448249.2:c.166G>A, XM_024448249.1:c.166G>A, XM_017016896.2:c.40G>A, XM_017016896.1:c.40G>A, XM_024448248.2:c.145G>A, XM_024448248.1:c.145G>A, XM_047425995.1:c.148G>A, NR_073197.1:n.525G>A, NR_073196.1:n.525G>A, XM_047425996.1:c.166G>A, NR_024150.1:n.211G>A, NR_073195.1:n.201G>A, XM_047425994.1:c.40G>A, XM_047425993.1:c.148G>A, NP_663736.2:p.Ala49Thr, NP_001035938.1:p.Ala14Thr, NP_001258441.1:p.Ala47Thr, NP_001339508.1:p.Ala14Thr, NP_001339503.1:p.Ala14Thr, NP_001339504.1:p.Ala14Thr, NP_001339505.1:p.Ala14Thr, NP_001339506.1:p.Ala14Thr, NP_001339507.1:p.Ala14Thr, NP_001339509.1:p.Ala14Thr, NP_001339511.1:p.Ala14Thr, NP_001339500.1:p.Ala47Thr, NP_001339498.1:p.Ala49Thr, NP_001339497.1:p.Ala56Thr, NP_001339515.1:p.Ala47Thr, NP_001339501.1:p.Ala56Thr, NP_001339516.1:p.Ala47Thr, NP_001339502.1:p.Ala49Thr, NP_001339510.1:p.Ala49Thr, NP_001339517.1:p.Ala49Thr, NP_001339499.1:p.Ala49Thr, XP_016872383.2:p.Ala14Thr, XP_016872377.1:p.Ala49Thr, XP_016872376.1:p.Ala56Thr, XP_016872378.1:p.Ala56Thr, XP_016872384.1:p.Ala14Thr, XP_016872373.2:p.Ala14Thr, XP_016872374.2:p.Ala14Thr, XP_016872387.1:p.Ala49Thr, XP_016872379.2:p.Ala14Thr, XP_016872382.2:p.Ala14Thr, XP_024304017.1:p.Ala56Thr, XP_016872385.1:p.Ala14Thr, XP_024304016.1:p.Ala49Thr, XP_047281951.1:p.Ala50Thr, XP_047281952.1:p.Ala56Thr, XP_047281950.1:p.Ala14Thr, XP_047281949.1:p.Ala50Thr

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