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Items: 1 to 20 of 369

1.

rs1484213078 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    17:45137137 (GRCh38)
    17:43214504 (GRCh37)
    Canonical SPDI:
    NC_000017.11:45137136:C:A
    Gene:
    ACBD4 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000017.11:g.45137137C>A, NC_000017.10:g.43214504C>A, NM_024722.4:c.413C>A, NM_024722.3:c.413C>A, NM_024722.2:c.413C>A, XM_017025089.3:c.413C>A, XM_017025089.2:c.413C>A, XM_017025089.1:c.413C>A, NM_001135707.3:c.413C>A, NM_001135707.2:c.413C>A, NM_001135707.1:c.413C>A, XM_017025092.3:c.413C>A, XM_017025092.2:c.413C>A, XM_017025092.1:c.413C>A, XM_006722085.3:c.413C>A, XM_006722085.2:c.413C>A, XM_006722085.1:c.413C>A, NM_001135706.3:c.413C>A, NM_001135706.2:c.413C>A, NM_001135706.1:c.413C>A, NM_001135705.3:c.413C>A, NM_001135705.2:c.413C>A, NM_001135705.1:c.413C>A, XM_011525259.3:c.413C>A, XM_011525259.2:c.413C>A, XM_011525259.1:c.413C>A, XM_017025101.3:c.413C>A, XM_017025101.2:c.413C>A, XM_017025101.1:c.413C>A, XM_011525261.3:c.413C>A, XM_011525261.2:c.413C>A, XM_011525261.1:c.413C>A, XM_017025084.2:c.413C>A, XM_017025084.1:c.413C>A, XM_017025087.2:c.413C>A, XM_017025087.1:c.413C>A, XM_017025088.2:c.413C>A, XM_017025088.1:c.413C>A, XM_017025090.2:c.413C>A, XM_017025090.1:c.413C>A, XM_017025095.2:c.413C>A, XM_017025095.1:c.413C>A, XM_017025097.2:c.413C>A, XM_017025097.1:c.413C>A, XM_017025096.2:c.413C>A, XM_017025096.1:c.413C>A, XM_017025099.2:c.413C>A, XM_017025099.1:c.413C>A, NM_001321352.2:c.413C>A, NM_001321352.1:c.413C>A, NM_001321353.2:c.413C>A, NM_001321353.1:c.413C>A, XM_017025093.2:c.413C>A, XM_017025093.1:c.413C>A, XM_017025100.2:c.413C>A, XM_017025100.1:c.413C>A, NM_001378112.1:c.179C>A, XM_047436766.1:c.413C>A, XM_047436767.1:c.413C>A, XM_047436768.1:c.413C>A, XM_047436769.1:c.413C>A, XM_047436760.1:c.413C>A, XM_047436761.1:c.413C>A, XM_047436762.1:c.413C>A, NM_001378111.1:c.413C>A, XM_047436763.1:c.413C>A, XM_047436765.1:c.413C>A, NM_001135704.1:c.413C>A, XM_047436764.1:c.413C>A, XM_047436770.1:c.413C>A, XM_047436771.1:c.413C>A, NM_001411125.1:c.413C>A, XM_047436772.1:c.413C>A, NP_078998.1:p.Thr138Lys, XP_016880578.1:p.Thr138Lys, NP_001129179.1:p.Thr138Lys, XP_016880581.1:p.Thr138Lys, XP_006722148.1:p.Thr138Lys, NP_001129178.1:p.Thr138Lys, NP_001129177.1:p.Thr138Lys, XP_011523561.1:p.Thr138Lys, XP_016880590.1:p.Thr138Lys, XP_011523563.1:p.Thr138Lys, XP_016880573.1:p.Thr138Lys, XP_016880576.1:p.Thr138Lys, XP_016880577.1:p.Thr138Lys, XP_016880579.1:p.Thr138Lys, XP_016880584.1:p.Thr138Lys, XP_016880586.1:p.Thr138Lys, XP_016880585.1:p.Thr138Lys, XP_016880588.1:p.Thr138Lys, NP_001308281.1:p.Thr138Lys, NP_001308282.1:p.Thr138Lys, XP_016880582.1:p.Thr138Lys, XP_016880589.1:p.Thr138Lys, NP_001365041.1:p.Thr60Lys, XP_047292722.1:p.Thr138Lys, XP_047292723.1:p.Thr138Lys, XP_047292724.1:p.Thr138Lys, XP_047292725.1:p.Thr138Lys, XP_047292716.1:p.Thr138Lys, XP_047292717.1:p.Thr138Lys, XP_047292718.1:p.Thr138Lys, NP_001365040.1:p.Thr138Lys, XP_047292719.1:p.Thr138Lys, XP_047292721.1:p.Thr138Lys, XP_047292720.1:p.Thr138Lys, XP_047292726.1:p.Thr138Lys, XP_047292727.1:p.Thr138Lys, XP_047292728.1:p.Thr138Lys

    2.

    rs1483346413 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      17:45136592 (GRCh38)
      17:43213959 (GRCh37)
      Canonical SPDI:
      NC_000017.11:45136591:TT:T
      Gene:
      ACBD4 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      NC_000017.11:g.45136593del, NC_000017.10:g.43213960del, NM_024722.4:c.182del, NM_024722.3:c.182del, NM_024722.2:c.182del, XM_017025089.3:c.182del, XM_017025089.2:c.182del, XM_017025089.1:c.182del, NM_001135707.3:c.182del, NM_001135707.2:c.182del, NM_001135707.1:c.182del, XM_017025092.3:c.182del, XM_017025092.2:c.182del, XM_017025092.1:c.182del, XM_006722085.3:c.182del, XM_006722085.2:c.182del, XM_006722085.1:c.182del, NM_001135706.3:c.182del, NM_001135706.2:c.182del, NM_001135706.1:c.182del, NM_001135705.3:c.182del, NM_001135705.2:c.182del, NM_001135705.1:c.182del, XM_011525259.3:c.182del, XM_011525259.2:c.182del, XM_011525259.1:c.182del, XM_017025101.3:c.182del, XM_017025101.2:c.182del, XM_017025101.1:c.182del, XM_011525261.3:c.182del, XM_011525261.2:c.182del, XM_011525261.1:c.182del, XM_017025084.2:c.182del, XM_017025084.1:c.182del, XM_017025087.2:c.182del, XM_017025087.1:c.182del, XM_017025088.2:c.182del, XM_017025088.1:c.182del, XM_017025090.2:c.182del, XM_017025090.1:c.182del, XM_017025095.2:c.182del, XM_017025095.1:c.182del, XM_017025097.2:c.182del, XM_017025097.1:c.182del, XM_017025096.2:c.182del, XM_017025096.1:c.182del, XM_017025099.2:c.182del, XM_017025099.1:c.182del, NM_001321352.2:c.182del, NM_001321352.1:c.182del, NM_001321353.2:c.182del, NM_001321353.1:c.182del, XM_017025093.2:c.182del, XM_017025093.1:c.182del, XM_017025100.2:c.182del, XM_017025100.1:c.182del, NM_001378112.1:c.-124del, XM_047436766.1:c.182del, XM_047436767.1:c.182del, XM_047436768.1:c.182del, XM_047436769.1:c.182del, XM_047436760.1:c.182del, XM_047436761.1:c.182del, XM_047436762.1:c.182del, NM_001378111.1:c.182del, XM_047436763.1:c.182del, XM_047436765.1:c.182del, NM_001135704.1:c.182del, XM_047436764.1:c.182del, XM_047436770.1:c.182del, XM_047436771.1:c.182del, NM_001411125.1:c.182del, XM_047436772.1:c.182del, NP_078998.1:p.Phe61fs, XP_016880578.1:p.Phe61fs, NP_001129179.1:p.Phe61fs, XP_016880581.1:p.Phe61fs, XP_006722148.1:p.Phe61fs, NP_001129178.1:p.Phe61fs, NP_001129177.1:p.Phe61fs, XP_011523561.1:p.Phe61fs, XP_016880590.1:p.Phe61fs, XP_011523563.1:p.Phe61fs, XP_016880573.1:p.Phe61fs, XP_016880576.1:p.Phe61fs, XP_016880577.1:p.Phe61fs, XP_016880579.1:p.Phe61fs, XP_016880584.1:p.Phe61fs, XP_016880586.1:p.Phe61fs, XP_016880585.1:p.Phe61fs, XP_016880588.1:p.Phe61fs, NP_001308281.1:p.Phe61fs, NP_001308282.1:p.Phe61fs, XP_016880582.1:p.Phe61fs, XP_016880589.1:p.Phe61fs, XP_047292722.1:p.Phe61fs, XP_047292723.1:p.Phe61fs, XP_047292724.1:p.Phe61fs, XP_047292725.1:p.Phe61fs, XP_047292716.1:p.Phe61fs, XP_047292717.1:p.Phe61fs, XP_047292718.1:p.Phe61fs, NP_001365040.1:p.Phe61fs, XP_047292719.1:p.Phe61fs, XP_047292721.1:p.Phe61fs, XP_047292720.1:p.Phe61fs, XP_047292726.1:p.Phe61fs, XP_047292727.1:p.Phe61fs, XP_047292728.1:p.Phe61fs

      3.

      rs1476946094 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:45137135 (GRCh38)
        17:43214502 (GRCh37)
        Canonical SPDI:
        NC_000017.11:45137134:C:T
        Gene:
        ACBD4 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000019/5 (TOPMED)
        T=0.000021/3 (GnomAD)
        HGVS:
        NC_000017.11:g.45137135C>T, NC_000017.10:g.43214502C>T, NM_024722.4:c.411C>T, NM_024722.3:c.411C>T, NM_024722.2:c.411C>T, XM_017025089.3:c.411C>T, XM_017025089.2:c.411C>T, XM_017025089.1:c.411C>T, NM_001135707.3:c.411C>T, NM_001135707.2:c.411C>T, NM_001135707.1:c.411C>T, XM_017025092.3:c.411C>T, XM_017025092.2:c.411C>T, XM_017025092.1:c.411C>T, XM_006722085.3:c.411C>T, XM_006722085.2:c.411C>T, XM_006722085.1:c.411C>T, NM_001135706.3:c.411C>T, NM_001135706.2:c.411C>T, NM_001135706.1:c.411C>T, NM_001135705.3:c.411C>T, NM_001135705.2:c.411C>T, NM_001135705.1:c.411C>T, XM_011525259.3:c.411C>T, XM_011525259.2:c.411C>T, XM_011525259.1:c.411C>T, XM_017025101.3:c.411C>T, XM_017025101.2:c.411C>T, XM_017025101.1:c.411C>T, XM_011525261.3:c.411C>T, XM_011525261.2:c.411C>T, XM_011525261.1:c.411C>T, XM_017025084.2:c.411C>T, XM_017025084.1:c.411C>T, XM_017025087.2:c.411C>T, XM_017025087.1:c.411C>T, XM_017025088.2:c.411C>T, XM_017025088.1:c.411C>T, XM_017025090.2:c.411C>T, XM_017025090.1:c.411C>T, XM_017025095.2:c.411C>T, XM_017025095.1:c.411C>T, XM_017025097.2:c.411C>T, XM_017025097.1:c.411C>T, XM_017025096.2:c.411C>T, XM_017025096.1:c.411C>T, XM_017025099.2:c.411C>T, XM_017025099.1:c.411C>T, NM_001321352.2:c.411C>T, NM_001321352.1:c.411C>T, NM_001321353.2:c.411C>T, NM_001321353.1:c.411C>T, XM_017025093.2:c.411C>T, XM_017025093.1:c.411C>T, XM_017025100.2:c.411C>T, XM_017025100.1:c.411C>T, NM_001378112.1:c.177C>T, XM_047436766.1:c.411C>T, XM_047436767.1:c.411C>T, XM_047436768.1:c.411C>T, XM_047436769.1:c.411C>T, XM_047436760.1:c.411C>T, XM_047436761.1:c.411C>T, XM_047436762.1:c.411C>T, NM_001378111.1:c.411C>T, XM_047436763.1:c.411C>T, XM_047436765.1:c.411C>T, NM_001135704.1:c.411C>T, XM_047436764.1:c.411C>T, XM_047436770.1:c.411C>T, XM_047436771.1:c.411C>T, NM_001411125.1:c.411C>T, XM_047436772.1:c.411C>T

        4.

        rs1475606545 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:45136733 (GRCh38)
          17:43214100 (GRCh37)
          Canonical SPDI:
          NC_000017.11:45136732:C:T
          Gene:
          ACBD4 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000017.11:g.45136733C>T, NC_000017.10:g.43214100C>T, NM_024722.4:c.251C>T, NM_024722.3:c.251C>T, NM_024722.2:c.251C>T, XM_017025089.3:c.251C>T, XM_017025089.2:c.251C>T, XM_017025089.1:c.251C>T, NM_001135707.3:c.251C>T, NM_001135707.2:c.251C>T, NM_001135707.1:c.251C>T, XM_017025092.3:c.251C>T, XM_017025092.2:c.251C>T, XM_017025092.1:c.251C>T, XM_006722085.3:c.251C>T, XM_006722085.2:c.251C>T, XM_006722085.1:c.251C>T, NM_001135706.3:c.251C>T, NM_001135706.2:c.251C>T, NM_001135706.1:c.251C>T, NM_001135705.3:c.251C>T, NM_001135705.2:c.251C>T, NM_001135705.1:c.251C>T, XM_011525259.3:c.251C>T, XM_011525259.2:c.251C>T, XM_011525259.1:c.251C>T, XM_017025101.3:c.251C>T, XM_017025101.2:c.251C>T, XM_017025101.1:c.251C>T, XM_011525261.3:c.251C>T, XM_011525261.2:c.251C>T, XM_011525261.1:c.251C>T, XM_017025084.2:c.251C>T, XM_017025084.1:c.251C>T, XM_017025087.2:c.251C>T, XM_017025087.1:c.251C>T, XM_017025088.2:c.251C>T, XM_017025088.1:c.251C>T, XM_017025090.2:c.251C>T, XM_017025090.1:c.251C>T, XM_017025095.2:c.251C>T, XM_017025095.1:c.251C>T, XM_017025097.2:c.251C>T, XM_017025097.1:c.251C>T, XM_017025096.2:c.251C>T, XM_017025096.1:c.251C>T, XM_017025099.2:c.251C>T, XM_017025099.1:c.251C>T, NM_001321352.2:c.251C>T, NM_001321352.1:c.251C>T, NM_001321353.2:c.251C>T, NM_001321353.1:c.251C>T, XM_017025093.2:c.251C>T, XM_017025093.1:c.251C>T, XM_017025100.2:c.251C>T, XM_017025100.1:c.251C>T, NM_001378112.1:c.17C>T, XM_047436766.1:c.251C>T, XM_047436767.1:c.251C>T, XM_047436768.1:c.251C>T, XM_047436769.1:c.251C>T, XM_047436760.1:c.251C>T, XM_047436761.1:c.251C>T, XM_047436762.1:c.251C>T, NM_001378111.1:c.251C>T, XM_047436763.1:c.251C>T, XM_047436765.1:c.251C>T, NM_001135704.1:c.251C>T, XM_047436764.1:c.251C>T, XM_047436770.1:c.251C>T, XM_047436771.1:c.251C>T, NM_001411125.1:c.251C>T, XM_047436772.1:c.251C>T, NP_078998.1:p.Ala84Val, XP_016880578.1:p.Ala84Val, NP_001129179.1:p.Ala84Val, XP_016880581.1:p.Ala84Val, XP_006722148.1:p.Ala84Val, NP_001129178.1:p.Ala84Val, NP_001129177.1:p.Ala84Val, XP_011523561.1:p.Ala84Val, XP_016880590.1:p.Ala84Val, XP_011523563.1:p.Ala84Val, XP_016880573.1:p.Ala84Val, XP_016880576.1:p.Ala84Val, XP_016880577.1:p.Ala84Val, XP_016880579.1:p.Ala84Val, XP_016880584.1:p.Ala84Val, XP_016880586.1:p.Ala84Val, XP_016880585.1:p.Ala84Val, XP_016880588.1:p.Ala84Val, NP_001308281.1:p.Ala84Val, NP_001308282.1:p.Ala84Val, XP_016880582.1:p.Ala84Val, XP_016880589.1:p.Ala84Val, NP_001365041.1:p.Ala6Val, XP_047292722.1:p.Ala84Val, XP_047292723.1:p.Ala84Val, XP_047292724.1:p.Ala84Val, XP_047292725.1:p.Ala84Val, XP_047292716.1:p.Ala84Val, XP_047292717.1:p.Ala84Val, XP_047292718.1:p.Ala84Val, NP_001365040.1:p.Ala84Val, XP_047292719.1:p.Ala84Val, XP_047292721.1:p.Ala84Val, XP_047292720.1:p.Ala84Val, XP_047292726.1:p.Ala84Val, XP_047292727.1:p.Ala84Val, XP_047292728.1:p.Ala84Val

          5.

          rs1472205636 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GCTCGGCCATGGCCC>- [Show Flanks]
            Chromosome:
            17:45143464 (GRCh38)
            17:43220831 (GRCh37)
            Canonical SPDI:
            NC_000017.11:45143463:GCTCGGCCATGGCCC:
            Gene:
            ACBD4 (Varview)
            Functional Consequence:
            inframe_indel,coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000111/1 (ALFA)
            -=0.000004/1 (GnomAD_exomes)
            -=0.000014/2 (GnomAD)
            HGVS:
            NC_000017.11:g.45143464_45143478del, NC_000017.10:g.43220831_43220845del, NM_024722.4:c.811_825del, NM_024722.3:c.811_825del, NM_024722.2:c.811_825del, XM_017025089.3:c.*684_*698del, XM_017025089.2:c.*684_*698del, NM_001135707.3:c.*854_*868del, NM_001135707.2:c.*854_*868del, XM_017025092.3:c.811_825del, XM_017025092.2:c.811_825del, XM_017025092.1:c.811_825del, XM_006722085.3:c.814_828del, XM_006722085.2:c.814_828del, XM_006722085.1:c.814_828del, NM_001135706.3:c.849_863del, NM_001135706.2:c.849_863del, NM_001135706.1:c.849_863del, NM_001135705.3:c.811_825del, NM_001135705.2:c.811_825del, NM_001135705.1:c.811_825del, XM_017025084.2:c.870_884del, XM_017025084.1:c.870_884del, XM_017025087.2:c.852_866del, XM_017025087.1:c.852_866del, XM_017025088.2:c.849_863del, XM_017025088.1:c.849_863del, XM_017025090.2:c.832_846del, XM_017025090.1:c.832_846del, XM_017025095.2:c.730_744del, XM_017025095.1:c.730_744del, XM_017025097.2:c.709_723del, XM_017025097.1:c.709_723del, XM_017025096.2:c.692_706del, XM_017025096.1:c.692_706del, XM_017025099.2:c.671_685del, XM_017025099.1:c.671_685del, NM_001321352.2:c.849_863del, NM_001321352.1:c.849_863del, NM_001321353.2:c.849_863del, NM_001321353.1:c.849_863del, NM_001378112.1:c.*854_*868del, XM_047436766.1:c.*854_*868del, XM_047436767.1:c.*854_*868del, XM_047436768.1:c.*854_*868del, XM_047436769.1:c.*854_*868del, XM_047436760.1:c.*684_*698del, XM_047436761.1:c.*684_*698del, XM_047436762.1:c.*684_*698del, NM_001378111.1:c.*854_*868del, XM_047436763.1:c.811_825del, XM_047436765.1:c.811_825del, NM_001135704.1:c.849_863del, XM_047436764.1:c.811_825del, XM_047436770.1:c.709_723del, XM_047436771.1:c.671_685del, NM_001411125.1:c.671_685del, NP_078998.1:p.Ala271_Pro275del, XP_016880581.1:p.Ala271_Pro275del, XP_006722148.1:p.Ala272_Pro276del, NP_001129178.1:p.His286_Gly290del, NP_001129177.1:p.Ala271_Pro275del, XP_016880573.1:p.His293_Gly297del, XP_016880576.1:p.His287_Gly291del, XP_016880577.1:p.His286_Gly290del, XP_016880579.1:p.Ala278_Pro282del, XP_016880584.1:p.Ala244_Pro248del, XP_016880586.1:p.Ala237_Pro241del, XP_016880585.1:p.Cys231_Pro236delinsSer, XP_016880588.1:p.Cys224_Pro229delinsSer, NP_001308281.1:p.His286_Gly290del, NP_001308282.1:p.His286_Gly290del, XP_047292719.1:p.Ala271_Pro275del, XP_047292721.1:p.Ala271_Pro275del, XP_047292720.1:p.Ala271_Pro275del, XP_047292726.1:p.Ala237_Pro241del, XP_047292727.1:p.Cys224_Pro229delinsSer

            6.

            rs1471688794 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:45137127 (GRCh38)
              17:43214494 (GRCh37)
              Canonical SPDI:
              NC_000017.11:45137126:A:G
              Gene:
              ACBD4 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000017.11:g.45137127A>G, NC_000017.10:g.43214494A>G, NM_024722.4:c.403A>G, NM_024722.3:c.403A>G, NM_024722.2:c.403A>G, XM_017025089.3:c.403A>G, XM_017025089.2:c.403A>G, XM_017025089.1:c.403A>G, NM_001135707.3:c.403A>G, NM_001135707.2:c.403A>G, NM_001135707.1:c.403A>G, XM_017025092.3:c.403A>G, XM_017025092.2:c.403A>G, XM_017025092.1:c.403A>G, XM_006722085.3:c.403A>G, XM_006722085.2:c.403A>G, XM_006722085.1:c.403A>G, NM_001135706.3:c.403A>G, NM_001135706.2:c.403A>G, NM_001135706.1:c.403A>G, NM_001135705.3:c.403A>G, NM_001135705.2:c.403A>G, NM_001135705.1:c.403A>G, XM_011525259.3:c.403A>G, XM_011525259.2:c.403A>G, XM_011525259.1:c.403A>G, XM_017025101.3:c.403A>G, XM_017025101.2:c.403A>G, XM_017025101.1:c.403A>G, XM_011525261.3:c.403A>G, XM_011525261.2:c.403A>G, XM_011525261.1:c.403A>G, XM_017025084.2:c.403A>G, XM_017025084.1:c.403A>G, XM_017025087.2:c.403A>G, XM_017025087.1:c.403A>G, XM_017025088.2:c.403A>G, XM_017025088.1:c.403A>G, XM_017025090.2:c.403A>G, XM_017025090.1:c.403A>G, XM_017025095.2:c.403A>G, XM_017025095.1:c.403A>G, XM_017025097.2:c.403A>G, XM_017025097.1:c.403A>G, XM_017025096.2:c.403A>G, XM_017025096.1:c.403A>G, XM_017025099.2:c.403A>G, XM_017025099.1:c.403A>G, NM_001321352.2:c.403A>G, NM_001321352.1:c.403A>G, NM_001321353.2:c.403A>G, NM_001321353.1:c.403A>G, XM_017025093.2:c.403A>G, XM_017025093.1:c.403A>G, XM_017025100.2:c.403A>G, XM_017025100.1:c.403A>G, NM_001378112.1:c.169A>G, XM_047436766.1:c.403A>G, XM_047436767.1:c.403A>G, XM_047436768.1:c.403A>G, XM_047436769.1:c.403A>G, XM_047436760.1:c.403A>G, XM_047436761.1:c.403A>G, XM_047436762.1:c.403A>G, NM_001378111.1:c.403A>G, XM_047436763.1:c.403A>G, XM_047436765.1:c.403A>G, NM_001135704.1:c.403A>G, XM_047436764.1:c.403A>G, XM_047436770.1:c.403A>G, XM_047436771.1:c.403A>G, NM_001411125.1:c.403A>G, XM_047436772.1:c.403A>G, NP_078998.1:p.Arg135Gly, XP_016880578.1:p.Arg135Gly, NP_001129179.1:p.Arg135Gly, XP_016880581.1:p.Arg135Gly, XP_006722148.1:p.Arg135Gly, NP_001129178.1:p.Arg135Gly, NP_001129177.1:p.Arg135Gly, XP_011523561.1:p.Arg135Gly, XP_016880590.1:p.Arg135Gly, XP_011523563.1:p.Arg135Gly, XP_016880573.1:p.Arg135Gly, XP_016880576.1:p.Arg135Gly, XP_016880577.1:p.Arg135Gly, XP_016880579.1:p.Arg135Gly, XP_016880584.1:p.Arg135Gly, XP_016880586.1:p.Arg135Gly, XP_016880585.1:p.Arg135Gly, XP_016880588.1:p.Arg135Gly, NP_001308281.1:p.Arg135Gly, NP_001308282.1:p.Arg135Gly, XP_016880582.1:p.Arg135Gly, XP_016880589.1:p.Arg135Gly, NP_001365041.1:p.Arg57Gly, XP_047292722.1:p.Arg135Gly, XP_047292723.1:p.Arg135Gly, XP_047292724.1:p.Arg135Gly, XP_047292725.1:p.Arg135Gly, XP_047292716.1:p.Arg135Gly, XP_047292717.1:p.Arg135Gly, XP_047292718.1:p.Arg135Gly, NP_001365040.1:p.Arg135Gly, XP_047292719.1:p.Arg135Gly, XP_047292721.1:p.Arg135Gly, XP_047292720.1:p.Arg135Gly, XP_047292726.1:p.Arg135Gly, XP_047292727.1:p.Arg135Gly, XP_047292728.1:p.Arg135Gly

              7.

              rs1467740860 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                17:45136585 (GRCh38)
                17:43213952 (GRCh37)
                Canonical SPDI:
                NC_000017.11:45136584:G:C
                Gene:
                ACBD4 (Varview)
                Functional Consequence:
                synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000017.11:g.45136585G>C, NC_000017.10:g.43213952G>C, NM_024722.4:c.174G>C, NM_024722.3:c.174G>C, NM_024722.2:c.174G>C, XM_017025089.3:c.174G>C, XM_017025089.2:c.174G>C, XM_017025089.1:c.174G>C, NM_001135707.3:c.174G>C, NM_001135707.2:c.174G>C, NM_001135707.1:c.174G>C, XM_017025092.3:c.174G>C, XM_017025092.2:c.174G>C, XM_017025092.1:c.174G>C, XM_006722085.3:c.174G>C, XM_006722085.2:c.174G>C, XM_006722085.1:c.174G>C, NM_001135706.3:c.174G>C, NM_001135706.2:c.174G>C, NM_001135706.1:c.174G>C, NM_001135705.3:c.174G>C, NM_001135705.2:c.174G>C, NM_001135705.1:c.174G>C, XM_011525259.3:c.174G>C, XM_011525259.2:c.174G>C, XM_011525259.1:c.174G>C, XM_017025101.3:c.174G>C, XM_017025101.2:c.174G>C, XM_017025101.1:c.174G>C, XM_011525261.3:c.174G>C, XM_011525261.2:c.174G>C, XM_011525261.1:c.174G>C, XM_017025084.2:c.174G>C, XM_017025084.1:c.174G>C, XM_017025087.2:c.174G>C, XM_017025087.1:c.174G>C, XM_017025088.2:c.174G>C, XM_017025088.1:c.174G>C, XM_017025090.2:c.174G>C, XM_017025090.1:c.174G>C, XM_017025095.2:c.174G>C, XM_017025095.1:c.174G>C, XM_017025097.2:c.174G>C, XM_017025097.1:c.174G>C, XM_017025096.2:c.174G>C, XM_017025096.1:c.174G>C, XM_017025099.2:c.174G>C, XM_017025099.1:c.174G>C, NM_001321352.2:c.174G>C, NM_001321352.1:c.174G>C, NM_001321353.2:c.174G>C, NM_001321353.1:c.174G>C, XM_017025093.2:c.174G>C, XM_017025093.1:c.174G>C, XM_017025100.2:c.174G>C, XM_017025100.1:c.174G>C, NM_001378112.1:c.-132G>C, XM_047436766.1:c.174G>C, XM_047436767.1:c.174G>C, XM_047436768.1:c.174G>C, XM_047436769.1:c.174G>C, XM_047436760.1:c.174G>C, XM_047436761.1:c.174G>C, XM_047436762.1:c.174G>C, NM_001378111.1:c.174G>C, XM_047436763.1:c.174G>C, XM_047436765.1:c.174G>C, NM_001135704.1:c.174G>C, XM_047436764.1:c.174G>C, XM_047436770.1:c.174G>C, XM_047436771.1:c.174G>C, NM_001411125.1:c.174G>C, XM_047436772.1:c.174G>C

                8.

                rs1467519451 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  17:45143470 (GRCh38)
                  17:43220837 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:45143469:C:G,NC_000017.11:45143469:C:T
                  Gene:
                  ACBD4 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,synonymous_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.00005/1 (ALFA)
                  HGVS:
                  NC_000017.11:g.45143470C>G, NC_000017.11:g.45143470C>T, NC_000017.10:g.43220837C>G, NC_000017.10:g.43220837C>T, NM_024722.4:c.817C>G, NM_024722.4:c.817C>T, NM_024722.3:c.817C>G, NM_024722.3:c.817C>T, NM_024722.2:c.817C>G, NM_024722.2:c.817C>T, XM_017025089.3:c.*690C>G, XM_017025089.3:c.*690C>T, XM_017025089.2:c.*690C>G, XM_017025089.2:c.*690C>T, NM_001135707.3:c.*860C>G, NM_001135707.3:c.*860C>T, NM_001135707.2:c.*860C>G, NM_001135707.2:c.*860C>T, XM_017025092.3:c.817C>G, XM_017025092.3:c.817C>T, XM_017025092.2:c.817C>G, XM_017025092.2:c.817C>T, XM_017025092.1:c.817C>G, XM_017025092.1:c.817C>T, XM_006722085.3:c.820C>G, XM_006722085.3:c.820C>T, XM_006722085.2:c.820C>G, XM_006722085.2:c.820C>T, XM_006722085.1:c.820C>G, XM_006722085.1:c.820C>T, NM_001135706.3:c.855C>G, NM_001135706.3:c.855C>T, NM_001135706.2:c.855C>G, NM_001135706.2:c.855C>T, NM_001135706.1:c.855C>G, NM_001135706.1:c.855C>T, NM_001135705.3:c.817C>G, NM_001135705.3:c.817C>T, NM_001135705.2:c.817C>G, NM_001135705.2:c.817C>T, NM_001135705.1:c.817C>G, NM_001135705.1:c.817C>T, XM_017025084.2:c.876C>G, XM_017025084.2:c.876C>T, XM_017025084.1:c.876C>G, XM_017025084.1:c.876C>T, XM_017025087.2:c.858C>G, XM_017025087.2:c.858C>T, XM_017025087.1:c.858C>G, XM_017025087.1:c.858C>T, XM_017025088.2:c.855C>G, XM_017025088.2:c.855C>T, XM_017025088.1:c.855C>G, XM_017025088.1:c.855C>T, XM_017025090.2:c.838C>G, XM_017025090.2:c.838C>T, XM_017025090.1:c.838C>G, XM_017025090.1:c.838C>T, XM_017025095.2:c.736C>G, XM_017025095.2:c.736C>T, XM_017025095.1:c.736C>G, XM_017025095.1:c.736C>T, XM_017025097.2:c.715C>G, XM_017025097.2:c.715C>T, XM_017025097.1:c.715C>G, XM_017025097.1:c.715C>T, XM_017025096.2:c.698C>G, XM_017025096.2:c.698C>T, XM_017025096.1:c.698C>G, XM_017025096.1:c.698C>T, XM_017025099.2:c.677C>G, XM_017025099.2:c.677C>T, XM_017025099.1:c.677C>G, XM_017025099.1:c.677C>T, NM_001321352.2:c.855C>G, NM_001321352.2:c.855C>T, NM_001321352.1:c.855C>G, NM_001321352.1:c.855C>T, NM_001321353.2:c.855C>G, NM_001321353.2:c.855C>T, NM_001321353.1:c.855C>G, NM_001321353.1:c.855C>T, NM_001378112.1:c.*860C>G, NM_001378112.1:c.*860C>T, XM_047436766.1:c.*860C>G, XM_047436766.1:c.*860C>T, XM_047436767.1:c.*860C>G, XM_047436767.1:c.*860C>T, XM_047436768.1:c.*860C>G, XM_047436768.1:c.*860C>T, XM_047436769.1:c.*860C>G, XM_047436769.1:c.*860C>T, XM_047436760.1:c.*690C>G, XM_047436760.1:c.*690C>T, XM_047436761.1:c.*690C>G, XM_047436761.1:c.*690C>T, XM_047436762.1:c.*690C>G, XM_047436762.1:c.*690C>T, NM_001378111.1:c.*860C>G, NM_001378111.1:c.*860C>T, XM_047436763.1:c.817C>G, XM_047436763.1:c.817C>T, XM_047436765.1:c.817C>G, XM_047436765.1:c.817C>T, NM_001135704.1:c.855C>G, NM_001135704.1:c.855C>T, XM_047436764.1:c.817C>G, XM_047436764.1:c.817C>T, XM_047436770.1:c.715C>G, XM_047436770.1:c.715C>T, XM_047436771.1:c.677C>G, XM_047436771.1:c.677C>T, NM_001411125.1:c.677C>G, NM_001411125.1:c.677C>T, NP_078998.1:p.Pro273Ala, NP_078998.1:p.Pro273Ser, XP_016880581.1:p.Pro273Ala, XP_016880581.1:p.Pro273Ser, XP_006722148.1:p.Pro274Ala, XP_006722148.1:p.Pro274Ser, NP_001129177.1:p.Pro273Ala, NP_001129177.1:p.Pro273Ser, XP_016880579.1:p.Pro280Ala, XP_016880579.1:p.Pro280Ser, XP_016880584.1:p.Pro246Ala, XP_016880584.1:p.Pro246Ser, XP_016880586.1:p.Pro239Ala, XP_016880586.1:p.Pro239Ser, XP_016880585.1:p.Ala233Gly, XP_016880585.1:p.Ala233Val, XP_016880588.1:p.Ala226Gly, XP_016880588.1:p.Ala226Val, XP_047292719.1:p.Pro273Ala, XP_047292719.1:p.Pro273Ser, XP_047292721.1:p.Pro273Ala, XP_047292721.1:p.Pro273Ser, XP_047292720.1:p.Pro273Ala, XP_047292720.1:p.Pro273Ser, XP_047292726.1:p.Pro239Ala, XP_047292726.1:p.Pro239Ser, XP_047292727.1:p.Ala226Gly, XP_047292727.1:p.Ala226Val

                  9.

                  rs1463323928 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:45139033 (GRCh38)
                    17:43216400 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:45139032:G:A
                    Gene:
                    ACBD4 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    HGVS:
                    NC_000017.11:g.45139033G>A, NC_000017.10:g.43216400G>A, NM_024722.4:c.662G>A, NM_024722.3:c.662G>A, NM_024722.2:c.662G>A, XM_017025089.3:c.665G>A, XM_017025089.2:c.665G>A, XM_017025089.1:c.665G>A, NM_001135707.3:c.652G>A, NM_001135707.2:c.652G>A, NM_001135707.1:c.652G>A, XM_017025092.3:c.662G>A, XM_017025092.2:c.662G>A, XM_017025092.1:c.662G>A, XM_006722085.3:c.665G>A, XM_006722085.2:c.665G>A, XM_006722085.1:c.665G>A, NM_001135706.3:c.700G>A, NM_001135706.2:c.700G>A, NM_001135706.1:c.700G>A, NM_001135705.3:c.662G>A, NM_001135705.2:c.662G>A, NM_001135705.1:c.662G>A, XM_017025084.2:c.721G>A, XM_017025084.1:c.721G>A, XM_017025087.2:c.703G>A, XM_017025087.1:c.703G>A, XM_017025088.2:c.700G>A, XM_017025088.1:c.700G>A, XM_017025090.2:c.683G>A, XM_017025090.1:c.683G>A, NM_001321352.2:c.700G>A, NM_001321352.1:c.700G>A, NM_001321353.2:c.700G>A, NM_001321353.1:c.700G>A, XM_017025093.2:c.721G>A, XM_017025093.1:c.721G>A, NM_001378112.1:c.466G>A, XM_047436766.1:c.703G>A, XM_047436767.1:c.700G>A, XM_047436768.1:c.703G>A, XM_047436769.1:c.700G>A, XM_047436760.1:c.662G>A, XM_047436761.1:c.665G>A, XM_047436762.1:c.662G>A, NM_001378111.1:c.700G>A, XM_047436763.1:c.662G>A, XM_047436765.1:c.662G>A, NM_001135704.1:c.700G>A, XM_047436764.1:c.662G>A, NP_078998.1:p.Gly221Asp, XP_016880578.1:p.Gly222Asp, NP_001129179.1:p.Ala218Thr, XP_016880581.1:p.Gly221Asp, XP_006722148.1:p.Gly222Asp, NP_001129178.1:p.Ala234Thr, NP_001129177.1:p.Gly221Asp, XP_016880573.1:p.Ala241Thr, XP_016880576.1:p.Ala235Thr, XP_016880577.1:p.Ala234Thr, XP_016880579.1:p.Gly228Asp, NP_001308281.1:p.Ala234Thr, NP_001308282.1:p.Ala234Thr, XP_016880582.1:p.Ala241Thr, NP_001365041.1:p.Ala156Thr, XP_047292722.1:p.Ala235Thr, XP_047292723.1:p.Ala234Thr, XP_047292724.1:p.Ala235Thr, XP_047292725.1:p.Ala234Thr, XP_047292716.1:p.Gly221Asp, XP_047292717.1:p.Gly222Asp, XP_047292718.1:p.Gly221Asp, NP_001365040.1:p.Ala234Thr, XP_047292719.1:p.Gly221Asp, XP_047292721.1:p.Gly221Asp, XP_047292720.1:p.Gly221Asp

                    10.

                    rs1461946760 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      17:45136534 (GRCh38)
                      17:43213901 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:45136533:A:T
                      Gene:
                      ACBD4 (Varview)
                      Functional Consequence:
                      synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000017.11:g.45136534A>T, NC_000017.10:g.43213901A>T, NM_024722.4:c.123A>T, NM_024722.3:c.123A>T, NM_024722.2:c.123A>T, XM_017025089.3:c.123A>T, XM_017025089.2:c.123A>T, XM_017025089.1:c.123A>T, NM_001135707.3:c.123A>T, NM_001135707.2:c.123A>T, NM_001135707.1:c.123A>T, XM_017025092.3:c.123A>T, XM_017025092.2:c.123A>T, XM_017025092.1:c.123A>T, XM_006722085.3:c.123A>T, XM_006722085.2:c.123A>T, XM_006722085.1:c.123A>T, NM_001135706.3:c.123A>T, NM_001135706.2:c.123A>T, NM_001135706.1:c.123A>T, NM_001135705.3:c.123A>T, NM_001135705.2:c.123A>T, NM_001135705.1:c.123A>T, XM_011525259.3:c.123A>T, XM_011525259.2:c.123A>T, XM_011525259.1:c.123A>T, XM_017025101.3:c.123A>T, XM_017025101.2:c.123A>T, XM_017025101.1:c.123A>T, XM_011525261.3:c.123A>T, XM_011525261.2:c.123A>T, XM_011525261.1:c.123A>T, XM_017025084.2:c.123A>T, XM_017025084.1:c.123A>T, XM_017025087.2:c.123A>T, XM_017025087.1:c.123A>T, XM_017025088.2:c.123A>T, XM_017025088.1:c.123A>T, XM_017025090.2:c.123A>T, XM_017025090.1:c.123A>T, XM_017025095.2:c.123A>T, XM_017025095.1:c.123A>T, XM_017025097.2:c.123A>T, XM_017025097.1:c.123A>T, XM_017025096.2:c.123A>T, XM_017025096.1:c.123A>T, XM_017025099.2:c.123A>T, XM_017025099.1:c.123A>T, NM_001321352.2:c.123A>T, NM_001321352.1:c.123A>T, NM_001321353.2:c.123A>T, NM_001321353.1:c.123A>T, XM_017025093.2:c.123A>T, XM_017025093.1:c.123A>T, XM_017025100.2:c.123A>T, XM_017025100.1:c.123A>T, NM_001378112.1:c.-183A>T, XM_047436766.1:c.123A>T, XM_047436767.1:c.123A>T, XM_047436768.1:c.123A>T, XM_047436769.1:c.123A>T, XM_047436760.1:c.123A>T, XM_047436761.1:c.123A>T, XM_047436762.1:c.123A>T, NM_001378111.1:c.123A>T, XM_047436763.1:c.123A>T, XM_047436765.1:c.123A>T, NM_001135704.1:c.123A>T, XM_047436764.1:c.123A>T, XM_047436770.1:c.123A>T, XM_047436771.1:c.123A>T, NM_001411125.1:c.123A>T, XM_047436772.1:c.123A>T

                      11.

                      rs1461721241 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:45137824 (GRCh38)
                        17:43215191 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:45137823:T:C
                        Gene:
                        ACBD4 (Varview)
                        Functional Consequence:
                        synonymous_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.45137824T>C, NC_000017.10:g.43215191T>C, NM_024722.4:c.567T>C, NM_024722.3:c.567T>C, NM_024722.2:c.567T>C, XM_017025089.3:c.567T>C, XM_017025089.2:c.567T>C, XM_017025089.1:c.567T>C, NM_001135707.3:c.567T>C, NM_001135707.2:c.567T>C, NM_001135707.1:c.567T>C, XM_017025092.3:c.567T>C, XM_017025092.2:c.567T>C, XM_017025092.1:c.567T>C, XM_006722085.3:c.567T>C, XM_006722085.2:c.567T>C, XM_006722085.1:c.567T>C, NM_001135706.3:c.605T>C, NM_001135706.2:c.605T>C, NM_001135706.1:c.605T>C, NM_001135705.3:c.567T>C, NM_001135705.2:c.567T>C, NM_001135705.1:c.567T>C, XM_011525259.3:c.605T>C, XM_011525259.2:c.605T>C, XM_011525259.1:c.605T>C, XM_017025101.3:c.567T>C, XM_017025101.2:c.567T>C, XM_017025101.1:c.567T>C, XM_011525261.3:c.567T>C, XM_011525261.2:c.567T>C, XM_011525261.1:c.567T>C, XM_017025084.2:c.605T>C, XM_017025084.1:c.605T>C, XM_017025087.2:c.605T>C, XM_017025087.1:c.605T>C, XM_017025088.2:c.605T>C, XM_017025088.1:c.605T>C, XM_017025090.2:c.567T>C, XM_017025090.1:c.567T>C, XM_017025095.2:c.605T>C, XM_017025095.1:c.605T>C, XM_017025097.2:c.605T>C, XM_017025097.1:c.605T>C, XM_017025096.2:c.567T>C, XM_017025096.1:c.567T>C, XM_017025099.2:c.567T>C, XM_017025099.1:c.567T>C, NM_001321352.2:c.605T>C, NM_001321352.1:c.605T>C, NM_001321353.2:c.605T>C, NM_001321353.1:c.605T>C, XM_017025093.2:c.605T>C, XM_017025093.1:c.605T>C, XM_017025100.2:c.605T>C, XM_017025100.1:c.605T>C, NM_001378112.1:c.371T>C, XM_047436766.1:c.605T>C, XM_047436767.1:c.605T>C, XM_047436768.1:c.605T>C, XM_047436769.1:c.605T>C, XM_047436760.1:c.567T>C, XM_047436761.1:c.567T>C, XM_047436762.1:c.567T>C, NM_001378111.1:c.605T>C, XM_047436763.1:c.567T>C, XM_047436765.1:c.567T>C, NM_001135704.1:c.605T>C, XM_047436764.1:c.567T>C, XM_047436770.1:c.605T>C, XM_047436771.1:c.567T>C, NM_001411125.1:c.567T>C, XM_047436772.1:c.567T>C, NP_001129178.1:p.Leu202Pro, XP_011523561.1:p.Leu202Pro, XP_016880573.1:p.Leu202Pro, XP_016880576.1:p.Leu202Pro, XP_016880577.1:p.Leu202Pro, XP_016880584.1:p.Leu202Pro, XP_016880586.1:p.Leu202Pro, NP_001308281.1:p.Leu202Pro, NP_001308282.1:p.Leu202Pro, XP_016880582.1:p.Leu202Pro, XP_016880589.1:p.Leu202Pro, NP_001365041.1:p.Leu124Pro, XP_047292722.1:p.Leu202Pro, XP_047292723.1:p.Leu202Pro, XP_047292724.1:p.Leu202Pro, XP_047292725.1:p.Leu202Pro, NP_001365040.1:p.Leu202Pro, XP_047292726.1:p.Leu202Pro

                        12.

                        rs1458513266 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:45137035 (GRCh38)
                          17:43214402 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:45137034:C:T
                          Gene:
                          ACBD4 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000017.11:g.45137035C>T, NC_000017.10:g.43214402C>T, NM_024722.4:c.311C>T, NM_024722.3:c.311C>T, NM_024722.2:c.311C>T, XM_017025089.3:c.311C>T, XM_017025089.2:c.311C>T, XM_017025089.1:c.311C>T, NM_001135707.3:c.311C>T, NM_001135707.2:c.311C>T, NM_001135707.1:c.311C>T, XM_017025092.3:c.311C>T, XM_017025092.2:c.311C>T, XM_017025092.1:c.311C>T, XM_006722085.3:c.311C>T, XM_006722085.2:c.311C>T, XM_006722085.1:c.311C>T, NM_001135706.3:c.311C>T, NM_001135706.2:c.311C>T, NM_001135706.1:c.311C>T, NM_001135705.3:c.311C>T, NM_001135705.2:c.311C>T, NM_001135705.1:c.311C>T, XM_011525259.3:c.311C>T, XM_011525259.2:c.311C>T, XM_011525259.1:c.311C>T, XM_017025101.3:c.311C>T, XM_017025101.2:c.311C>T, XM_017025101.1:c.311C>T, XM_011525261.3:c.311C>T, XM_011525261.2:c.311C>T, XM_011525261.1:c.311C>T, XM_017025084.2:c.311C>T, XM_017025084.1:c.311C>T, XM_017025087.2:c.311C>T, XM_017025087.1:c.311C>T, XM_017025088.2:c.311C>T, XM_017025088.1:c.311C>T, XM_017025090.2:c.311C>T, XM_017025090.1:c.311C>T, XM_017025095.2:c.311C>T, XM_017025095.1:c.311C>T, XM_017025097.2:c.311C>T, XM_017025097.1:c.311C>T, XM_017025096.2:c.311C>T, XM_017025096.1:c.311C>T, XM_017025099.2:c.311C>T, XM_017025099.1:c.311C>T, NM_001321352.2:c.311C>T, NM_001321352.1:c.311C>T, NM_001321353.2:c.311C>T, NM_001321353.1:c.311C>T, XM_017025093.2:c.311C>T, XM_017025093.1:c.311C>T, XM_017025100.2:c.311C>T, XM_017025100.1:c.311C>T, NM_001378112.1:c.77C>T, XM_047436766.1:c.311C>T, XM_047436767.1:c.311C>T, XM_047436768.1:c.311C>T, XM_047436769.1:c.311C>T, XM_047436760.1:c.311C>T, XM_047436761.1:c.311C>T, XM_047436762.1:c.311C>T, NM_001378111.1:c.311C>T, XM_047436763.1:c.311C>T, XM_047436765.1:c.311C>T, NM_001135704.1:c.311C>T, XM_047436764.1:c.311C>T, XM_047436770.1:c.311C>T, XM_047436771.1:c.311C>T, NM_001411125.1:c.311C>T, XM_047436772.1:c.311C>T, NP_078998.1:p.Pro104Leu, XP_016880578.1:p.Pro104Leu, NP_001129179.1:p.Pro104Leu, XP_016880581.1:p.Pro104Leu, XP_006722148.1:p.Pro104Leu, NP_001129178.1:p.Pro104Leu, NP_001129177.1:p.Pro104Leu, XP_011523561.1:p.Pro104Leu, XP_016880590.1:p.Pro104Leu, XP_011523563.1:p.Pro104Leu, XP_016880573.1:p.Pro104Leu, XP_016880576.1:p.Pro104Leu, XP_016880577.1:p.Pro104Leu, XP_016880579.1:p.Pro104Leu, XP_016880584.1:p.Pro104Leu, XP_016880586.1:p.Pro104Leu, XP_016880585.1:p.Pro104Leu, XP_016880588.1:p.Pro104Leu, NP_001308281.1:p.Pro104Leu, NP_001308282.1:p.Pro104Leu, XP_016880582.1:p.Pro104Leu, XP_016880589.1:p.Pro104Leu, NP_001365041.1:p.Pro26Leu, XP_047292722.1:p.Pro104Leu, XP_047292723.1:p.Pro104Leu, XP_047292724.1:p.Pro104Leu, XP_047292725.1:p.Pro104Leu, XP_047292716.1:p.Pro104Leu, XP_047292717.1:p.Pro104Leu, XP_047292718.1:p.Pro104Leu, NP_001365040.1:p.Pro104Leu, XP_047292719.1:p.Pro104Leu, XP_047292721.1:p.Pro104Leu, XP_047292720.1:p.Pro104Leu, XP_047292726.1:p.Pro104Leu, XP_047292727.1:p.Pro104Leu, XP_047292728.1:p.Pro104Leu

                          13.

                          rs1456361389 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G,T [Show Flanks]
                            Chromosome:
                            17:45139098 (GRCh38)
                            17:43216465 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:45139097:A:G,NC_000017.11:45139097:A:T
                            Gene:
                            ACBD4 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000017.11:g.45139098A>G, NC_000017.11:g.45139098A>T, NC_000017.10:g.43216465A>G, NC_000017.10:g.43216465A>T, NM_024722.4:c.727A>G, NM_024722.4:c.727A>T, NM_024722.3:c.727A>G, NM_024722.3:c.727A>T, NM_024722.2:c.727A>G, NM_024722.2:c.727A>T, XM_017025089.3:c.730A>G, XM_017025089.3:c.730A>T, XM_017025089.2:c.730A>G, XM_017025089.2:c.730A>T, XM_017025089.1:c.730A>G, XM_017025089.1:c.730A>T, NM_001135707.3:c.717A>G, NM_001135707.3:c.717A>T, NM_001135707.2:c.717A>G, NM_001135707.2:c.717A>T, NM_001135707.1:c.717A>G, NM_001135707.1:c.717A>T, XM_017025092.3:c.727A>G, XM_017025092.3:c.727A>T, XM_017025092.2:c.727A>G, XM_017025092.2:c.727A>T, XM_017025092.1:c.727A>G, XM_017025092.1:c.727A>T, XM_006722085.3:c.730A>G, XM_006722085.3:c.730A>T, XM_006722085.2:c.730A>G, XM_006722085.2:c.730A>T, XM_006722085.1:c.730A>G, XM_006722085.1:c.730A>T, NM_001135706.3:c.765A>G, NM_001135706.3:c.765A>T, NM_001135706.2:c.765A>G, NM_001135706.2:c.765A>T, NM_001135706.1:c.765A>G, NM_001135706.1:c.765A>T, NM_001135705.3:c.727A>G, NM_001135705.3:c.727A>T, NM_001135705.2:c.727A>G, NM_001135705.2:c.727A>T, NM_001135705.1:c.727A>G, NM_001135705.1:c.727A>T, XM_017025084.2:c.786A>G, XM_017025084.2:c.786A>T, XM_017025084.1:c.786A>G, XM_017025084.1:c.786A>T, XM_017025087.2:c.768A>G, XM_017025087.2:c.768A>T, XM_017025087.1:c.768A>G, XM_017025087.1:c.768A>T, XM_017025088.2:c.765A>G, XM_017025088.2:c.765A>T, XM_017025088.1:c.765A>G, XM_017025088.1:c.765A>T, XM_017025090.2:c.748A>G, XM_017025090.2:c.748A>T, XM_017025090.1:c.748A>G, XM_017025090.1:c.748A>T, NM_001321352.2:c.765A>G, NM_001321352.2:c.765A>T, NM_001321352.1:c.765A>G, NM_001321352.1:c.765A>T, NM_001321353.2:c.765A>G, NM_001321353.2:c.765A>T, NM_001321353.1:c.765A>G, NM_001321353.1:c.765A>T, XM_017025093.2:c.786A>G, XM_017025093.2:c.786A>T, XM_017025093.1:c.786A>G, XM_017025093.1:c.786A>T, NM_001378112.1:c.531A>G, NM_001378112.1:c.531A>T, XM_047436766.1:c.768A>G, XM_047436766.1:c.768A>T, XM_047436767.1:c.765A>G, XM_047436767.1:c.765A>T, XM_047436768.1:c.768A>G, XM_047436768.1:c.768A>T, XM_047436769.1:c.765A>G, XM_047436769.1:c.765A>T, XM_047436760.1:c.727A>G, XM_047436760.1:c.727A>T, XM_047436761.1:c.730A>G, XM_047436761.1:c.730A>T, XM_047436762.1:c.727A>G, XM_047436762.1:c.727A>T, NM_001378111.1:c.765A>G, NM_001378111.1:c.765A>T, XM_047436763.1:c.727A>G, XM_047436763.1:c.727A>T, XM_047436765.1:c.727A>G, XM_047436765.1:c.727A>T, NM_001135704.1:c.765A>G, NM_001135704.1:c.765A>T, XM_047436764.1:c.727A>G, XM_047436764.1:c.727A>T, NP_078998.1:p.Ser243Gly, NP_078998.1:p.Ser243Cys, XP_016880578.1:p.Ser244Gly, XP_016880578.1:p.Ser244Cys, NP_001129179.1:p.Arg239Ser, XP_016880581.1:p.Ser243Gly, XP_016880581.1:p.Ser243Cys, XP_006722148.1:p.Ser244Gly, XP_006722148.1:p.Ser244Cys, NP_001129178.1:p.Arg255Ser, NP_001129177.1:p.Ser243Gly, NP_001129177.1:p.Ser243Cys, XP_016880573.1:p.Arg262Ser, XP_016880576.1:p.Arg256Ser, XP_016880577.1:p.Arg255Ser, XP_016880579.1:p.Ser250Gly, XP_016880579.1:p.Ser250Cys, NP_001308281.1:p.Arg255Ser, NP_001308282.1:p.Arg255Ser, XP_016880582.1:p.Arg262Ser, NP_001365041.1:p.Arg177Ser, XP_047292722.1:p.Arg256Ser, XP_047292723.1:p.Arg255Ser, XP_047292724.1:p.Arg256Ser, XP_047292725.1:p.Arg255Ser, XP_047292716.1:p.Ser243Gly, XP_047292716.1:p.Ser243Cys, XP_047292717.1:p.Ser244Gly, XP_047292717.1:p.Ser244Cys, XP_047292718.1:p.Ser243Gly, XP_047292718.1:p.Ser243Cys, NP_001365040.1:p.Arg255Ser, XP_047292719.1:p.Ser243Gly, XP_047292719.1:p.Ser243Cys, XP_047292721.1:p.Ser243Gly, XP_047292721.1:p.Ser243Cys, XP_047292720.1:p.Ser243Gly, XP_047292720.1:p.Ser243Cys

                            14.

                            rs1455925627 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              17:45139058 (GRCh38)
                              17:43216425 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:45139057:G:C
                              Gene:
                              ACBD4 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.45139058G>C, NC_000017.10:g.43216425G>C, NM_024722.4:c.687G>C, NM_024722.3:c.687G>C, NM_024722.2:c.687G>C, XM_017025089.3:c.690G>C, XM_017025089.2:c.690G>C, XM_017025089.1:c.690G>C, NM_001135707.3:c.677G>C, NM_001135707.2:c.677G>C, NM_001135707.1:c.677G>C, XM_017025092.3:c.687G>C, XM_017025092.2:c.687G>C, XM_017025092.1:c.687G>C, XM_006722085.3:c.690G>C, XM_006722085.2:c.690G>C, XM_006722085.1:c.690G>C, NM_001135706.3:c.725G>C, NM_001135706.2:c.725G>C, NM_001135706.1:c.725G>C, NM_001135705.3:c.687G>C, NM_001135705.2:c.687G>C, NM_001135705.1:c.687G>C, XM_017025084.2:c.746G>C, XM_017025084.1:c.746G>C, XM_017025087.2:c.728G>C, XM_017025087.1:c.728G>C, XM_017025088.2:c.725G>C, XM_017025088.1:c.725G>C, XM_017025090.2:c.708G>C, XM_017025090.1:c.708G>C, NM_001321352.2:c.725G>C, NM_001321352.1:c.725G>C, NM_001321353.2:c.725G>C, NM_001321353.1:c.725G>C, XM_017025093.2:c.746G>C, XM_017025093.1:c.746G>C, NM_001378112.1:c.491G>C, XM_047436766.1:c.728G>C, XM_047436767.1:c.725G>C, XM_047436768.1:c.728G>C, XM_047436769.1:c.725G>C, XM_047436760.1:c.687G>C, XM_047436761.1:c.690G>C, XM_047436762.1:c.687G>C, NM_001378111.1:c.725G>C, XM_047436763.1:c.687G>C, XM_047436765.1:c.687G>C, NM_001135704.1:c.725G>C, XM_047436764.1:c.687G>C, NP_078998.1:p.Leu229Phe, XP_016880578.1:p.Leu230Phe, NP_001129179.1:p.Trp226Ser, XP_016880581.1:p.Leu229Phe, XP_006722148.1:p.Leu230Phe, NP_001129178.1:p.Trp242Ser, NP_001129177.1:p.Leu229Phe, XP_016880573.1:p.Trp249Ser, XP_016880576.1:p.Trp243Ser, XP_016880577.1:p.Trp242Ser, XP_016880579.1:p.Leu236Phe, NP_001308281.1:p.Trp242Ser, NP_001308282.1:p.Trp242Ser, XP_016880582.1:p.Trp249Ser, NP_001365041.1:p.Trp164Ser, XP_047292722.1:p.Trp243Ser, XP_047292723.1:p.Trp242Ser, XP_047292724.1:p.Trp243Ser, XP_047292725.1:p.Trp242Ser, XP_047292716.1:p.Leu229Phe, XP_047292717.1:p.Leu230Phe, XP_047292718.1:p.Leu229Phe, NP_001365040.1:p.Trp242Ser, XP_047292719.1:p.Leu229Phe, XP_047292721.1:p.Leu229Phe, XP_047292720.1:p.Leu229Phe

                              15.

                              rs1453111851 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                17:45143618 (GRCh38)
                                17:43220985 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:45143617:G:C
                                Gene:
                                ACBD4 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000017.11:g.45143618G>C, NC_000017.10:g.43220985G>C, NM_024722.4:c.*47G>C, NM_024722.3:c.*47G>C, NM_024722.2:c.*47G>C, XM_017025089.3:c.*838G>C, XM_017025089.2:c.*838G>C, NM_001135707.3:c.*1008G>C, NM_001135707.2:c.*1008G>C, XM_017025092.3:c.*47G>C, XM_017025092.2:c.*47G>C, XM_017025092.1:c.*47G>C, XM_006722085.3:c.*47G>C, XM_006722085.2:c.*47G>C, XM_006722085.1:c.*47G>C, NM_001135706.3:c.1003G>C, NM_001135706.2:c.1003G>C, NM_001135706.1:c.1003G>C, NM_001135705.3:c.*47G>C, NM_001135705.2:c.*47G>C, NM_001135705.1:c.*47G>C, XM_017025084.2:c.1024G>C, XM_017025084.1:c.1024G>C, XM_017025087.2:c.1006G>C, XM_017025087.1:c.1006G>C, XM_017025088.2:c.1003G>C, XM_017025088.1:c.1003G>C, XM_017025090.2:c.*47G>C, XM_017025090.1:c.*47G>C, XM_017025095.2:c.*47G>C, XM_017025095.1:c.*47G>C, XM_017025097.2:c.*47G>C, XM_017025097.1:c.*47G>C, XM_017025096.2:c.*15G>C, XM_017025096.1:c.*15G>C, XM_017025099.2:c.*15G>C, XM_017025099.1:c.*15G>C, NM_001321352.2:c.1003G>C, NM_001321352.1:c.1003G>C, NM_001321353.2:c.1003G>C, NM_001321353.1:c.1003G>C, NM_001378112.1:c.*1008G>C, XM_047436766.1:c.*1008G>C, XM_047436767.1:c.*1008G>C, XM_047436768.1:c.*1008G>C, XM_047436769.1:c.*1008G>C, XM_047436760.1:c.*838G>C, XM_047436761.1:c.*838G>C, XM_047436762.1:c.*838G>C, NM_001378111.1:c.*1008G>C, XM_047436763.1:c.*47G>C, XM_047436765.1:c.*47G>C, NM_001135704.1:c.1003G>C, XM_047436764.1:c.*47G>C, XM_047436770.1:c.*47G>C, XM_047436771.1:c.*15G>C, NM_001411125.1:c.*15G>C, NP_001129178.1:p.Ala335Pro, XP_016880573.1:p.Ala342Pro, XP_016880576.1:p.Ala336Pro, XP_016880577.1:p.Ala335Pro, NP_001308281.1:p.Ala335Pro, NP_001308282.1:p.Ala335Pro

                                16.

                                rs1452224246 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:45137125 (GRCh38)
                                  17:43214492 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:45137124:T:C
                                  Gene:
                                  ACBD4 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.45137125T>C, NC_000017.10:g.43214492T>C, NM_024722.4:c.401T>C, NM_024722.3:c.401T>C, NM_024722.2:c.401T>C, XM_017025089.3:c.401T>C, XM_017025089.2:c.401T>C, XM_017025089.1:c.401T>C, NM_001135707.3:c.401T>C, NM_001135707.2:c.401T>C, NM_001135707.1:c.401T>C, XM_017025092.3:c.401T>C, XM_017025092.2:c.401T>C, XM_017025092.1:c.401T>C, XM_006722085.3:c.401T>C, XM_006722085.2:c.401T>C, XM_006722085.1:c.401T>C, NM_001135706.3:c.401T>C, NM_001135706.2:c.401T>C, NM_001135706.1:c.401T>C, NM_001135705.3:c.401T>C, NM_001135705.2:c.401T>C, NM_001135705.1:c.401T>C, XM_011525259.3:c.401T>C, XM_011525259.2:c.401T>C, XM_011525259.1:c.401T>C, XM_017025101.3:c.401T>C, XM_017025101.2:c.401T>C, XM_017025101.1:c.401T>C, XM_011525261.3:c.401T>C, XM_011525261.2:c.401T>C, XM_011525261.1:c.401T>C, XM_017025084.2:c.401T>C, XM_017025084.1:c.401T>C, XM_017025087.2:c.401T>C, XM_017025087.1:c.401T>C, XM_017025088.2:c.401T>C, XM_017025088.1:c.401T>C, XM_017025090.2:c.401T>C, XM_017025090.1:c.401T>C, XM_017025095.2:c.401T>C, XM_017025095.1:c.401T>C, XM_017025097.2:c.401T>C, XM_017025097.1:c.401T>C, XM_017025096.2:c.401T>C, XM_017025096.1:c.401T>C, XM_017025099.2:c.401T>C, XM_017025099.1:c.401T>C, NM_001321352.2:c.401T>C, NM_001321352.1:c.401T>C, NM_001321353.2:c.401T>C, NM_001321353.1:c.401T>C, XM_017025093.2:c.401T>C, XM_017025093.1:c.401T>C, XM_017025100.2:c.401T>C, XM_017025100.1:c.401T>C, NM_001378112.1:c.167T>C, XM_047436766.1:c.401T>C, XM_047436767.1:c.401T>C, XM_047436768.1:c.401T>C, XM_047436769.1:c.401T>C, XM_047436760.1:c.401T>C, XM_047436761.1:c.401T>C, XM_047436762.1:c.401T>C, NM_001378111.1:c.401T>C, XM_047436763.1:c.401T>C, XM_047436765.1:c.401T>C, NM_001135704.1:c.401T>C, XM_047436764.1:c.401T>C, XM_047436770.1:c.401T>C, XM_047436771.1:c.401T>C, NM_001411125.1:c.401T>C, XM_047436772.1:c.401T>C, NP_078998.1:p.Leu134Pro, XP_016880578.1:p.Leu134Pro, NP_001129179.1:p.Leu134Pro, XP_016880581.1:p.Leu134Pro, XP_006722148.1:p.Leu134Pro, NP_001129178.1:p.Leu134Pro, NP_001129177.1:p.Leu134Pro, XP_011523561.1:p.Leu134Pro, XP_016880590.1:p.Leu134Pro, XP_011523563.1:p.Leu134Pro, XP_016880573.1:p.Leu134Pro, XP_016880576.1:p.Leu134Pro, XP_016880577.1:p.Leu134Pro, XP_016880579.1:p.Leu134Pro, XP_016880584.1:p.Leu134Pro, XP_016880586.1:p.Leu134Pro, XP_016880585.1:p.Leu134Pro, XP_016880588.1:p.Leu134Pro, NP_001308281.1:p.Leu134Pro, NP_001308282.1:p.Leu134Pro, XP_016880582.1:p.Leu134Pro, XP_016880589.1:p.Leu134Pro, NP_001365041.1:p.Leu56Pro, XP_047292722.1:p.Leu134Pro, XP_047292723.1:p.Leu134Pro, XP_047292724.1:p.Leu134Pro, XP_047292725.1:p.Leu134Pro, XP_047292716.1:p.Leu134Pro, XP_047292717.1:p.Leu134Pro, XP_047292718.1:p.Leu134Pro, NP_001365040.1:p.Leu134Pro, XP_047292719.1:p.Leu134Pro, XP_047292721.1:p.Leu134Pro, XP_047292720.1:p.Leu134Pro, XP_047292726.1:p.Leu134Pro, XP_047292727.1:p.Leu134Pro, XP_047292728.1:p.Leu134Pro

                                  17.

                                  rs1449874690 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    CAG>- [Show Flanks]
                                    Chromosome:
                                    17:45143460 (GRCh38)
                                    17:43220827 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:45143459:CAG:
                                    Gene:
                                    ACBD4 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,downstream_transcript_variant,inframe_indel,inframe_deletion,3_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.000111/1 (ALFA)
                                    -=0.000004/1 (GnomAD_exomes)
                                    -=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.45143460_45143462del, NC_000017.10:g.43220827_43220829del, NM_024722.4:c.807_809del, NM_024722.3:c.807_809del, NM_024722.2:c.807_809del, XM_017025089.3:c.*680_*682del, XM_017025089.2:c.*680_*682del, NM_001135707.3:c.*850_*852del, NM_001135707.2:c.*850_*852del, XM_017025092.3:c.807_809del, XM_017025092.2:c.807_809del, XM_017025092.1:c.807_809del, XM_006722085.3:c.810_812del, XM_006722085.2:c.810_812del, XM_006722085.1:c.810_812del, NM_001135706.3:c.845_847del, NM_001135706.2:c.845_847del, NM_001135706.1:c.845_847del, NM_001135705.3:c.807_809del, NM_001135705.2:c.807_809del, NM_001135705.1:c.807_809del, XM_017025084.2:c.866_868del, XM_017025084.1:c.866_868del, XM_017025087.2:c.848_850del, XM_017025087.1:c.848_850del, XM_017025088.2:c.845_847del, XM_017025088.1:c.845_847del, XM_017025090.2:c.828_830del, XM_017025090.1:c.828_830del, XM_017025095.2:c.726_728del, XM_017025095.1:c.726_728del, XM_017025097.2:c.705_707del, XM_017025097.1:c.705_707del, XM_017025096.2:c.688_690del, XM_017025096.1:c.688_690del, XM_017025099.2:c.667_669del, XM_017025099.1:c.667_669del, NM_001321352.2:c.845_847del, NM_001321352.1:c.845_847del, NM_001321353.2:c.845_847del, NM_001321353.1:c.845_847del, NM_001378112.1:c.*850_*852del, XM_047436766.1:c.*850_*852del, XM_047436767.1:c.*850_*852del, XM_047436768.1:c.*850_*852del, XM_047436769.1:c.*850_*852del, XM_047436760.1:c.*680_*682del, XM_047436761.1:c.*680_*682del, XM_047436762.1:c.*680_*682del, NM_001378111.1:c.*850_*852del, XM_047436763.1:c.807_809del, XM_047436765.1:c.807_809del, NM_001135704.1:c.845_847del, XM_047436764.1:c.807_809del, XM_047436770.1:c.705_707del, XM_047436771.1:c.667_669del, NM_001411125.1:c.667_669del, NP_078998.1:p.Ser270del, XP_016880581.1:p.Ser270del, XP_006722148.1:p.Ser271del, NP_001129178.1:p.Pro282_Val283delinsLeu, NP_001129177.1:p.Ser270del, XP_016880573.1:p.Pro289_Val290delinsLeu, XP_016880576.1:p.Pro283_Val284delinsLeu, XP_016880577.1:p.Pro282_Val283delinsLeu, XP_016880579.1:p.Ser277del, XP_016880584.1:p.Ser243del, XP_016880586.1:p.Ser236del, XP_016880585.1:p.Gln230del, XP_016880588.1:p.Gln223del, NP_001308281.1:p.Pro282_Val283delinsLeu, NP_001308282.1:p.Pro282_Val283delinsLeu, XP_047292719.1:p.Ser270del, XP_047292721.1:p.Ser270del, XP_047292720.1:p.Ser270del, XP_047292726.1:p.Ser236del, XP_047292727.1:p.Gln223del

                                    18.

                                    rs1448018540 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      17:45136193 (GRCh38)
                                      17:43213560 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:45136192:C:G
                                      Gene:
                                      ACBD4 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                      HGVS:
                                      NC_000017.11:g.45136193C>G, NC_000017.10:g.43213560C>G, NM_024722.4:c.49C>G, NM_024722.3:c.49C>G, NM_024722.2:c.49C>G, XM_017025089.3:c.49C>G, XM_017025089.2:c.49C>G, XM_017025089.1:c.49C>G, NM_001135707.3:c.49C>G, NM_001135707.2:c.49C>G, NM_001135707.1:c.49C>G, XM_017025092.3:c.49C>G, XM_017025092.2:c.49C>G, XM_017025092.1:c.49C>G, XM_006722085.3:c.49C>G, XM_006722085.2:c.49C>G, XM_006722085.1:c.49C>G, NM_001135706.3:c.49C>G, NM_001135706.2:c.49C>G, NM_001135706.1:c.49C>G, NM_001135705.3:c.49C>G, NM_001135705.2:c.49C>G, NM_001135705.1:c.49C>G, XM_011525259.3:c.49C>G, XM_011525259.2:c.49C>G, XM_011525259.1:c.49C>G, XM_017025101.3:c.49C>G, XM_017025101.2:c.49C>G, XM_017025101.1:c.49C>G, XM_011525261.3:c.49C>G, XM_011525261.2:c.49C>G, XM_011525261.1:c.49C>G, XM_017025084.2:c.49C>G, XM_017025084.1:c.49C>G, XM_017025087.2:c.49C>G, XM_017025087.1:c.49C>G, XM_017025088.2:c.49C>G, XM_017025088.1:c.49C>G, XM_017025090.2:c.49C>G, XM_017025090.1:c.49C>G, XM_017025095.2:c.49C>G, XM_017025095.1:c.49C>G, XM_017025097.2:c.49C>G, XM_017025097.1:c.49C>G, XM_017025096.2:c.49C>G, XM_017025096.1:c.49C>G, XM_017025099.2:c.49C>G, XM_017025099.1:c.49C>G, NM_001321352.2:c.49C>G, NM_001321352.1:c.49C>G, NM_001321353.2:c.49C>G, NM_001321353.1:c.49C>G, XM_017025093.2:c.49C>G, XM_017025093.1:c.49C>G, XM_017025100.2:c.49C>G, XM_017025100.1:c.49C>G, NM_001378112.1:c.-257C>G, XM_047436766.1:c.49C>G, XM_047436767.1:c.49C>G, XM_047436768.1:c.49C>G, XM_047436769.1:c.49C>G, XM_047436760.1:c.49C>G, XM_047436761.1:c.49C>G, XM_047436762.1:c.49C>G, NM_001378111.1:c.49C>G, XM_047436763.1:c.49C>G, XM_047436765.1:c.49C>G, NM_001135704.1:c.49C>G, XM_047436764.1:c.49C>G, XM_047436770.1:c.49C>G, XM_047436771.1:c.49C>G, NM_001411125.1:c.49C>G, XM_047436772.1:c.49C>G, NP_078998.1:p.Gln17Glu, XP_016880578.1:p.Gln17Glu, NP_001129179.1:p.Gln17Glu, XP_016880581.1:p.Gln17Glu, XP_006722148.1:p.Gln17Glu, NP_001129178.1:p.Gln17Glu, NP_001129177.1:p.Gln17Glu, XP_011523561.1:p.Gln17Glu, XP_016880590.1:p.Gln17Glu, XP_011523563.1:p.Gln17Glu, XP_016880573.1:p.Gln17Glu, XP_016880576.1:p.Gln17Glu, XP_016880577.1:p.Gln17Glu, XP_016880579.1:p.Gln17Glu, XP_016880584.1:p.Gln17Glu, XP_016880586.1:p.Gln17Glu, XP_016880585.1:p.Gln17Glu, XP_016880588.1:p.Gln17Glu, NP_001308281.1:p.Gln17Glu, NP_001308282.1:p.Gln17Glu, XP_016880582.1:p.Gln17Glu, XP_016880589.1:p.Gln17Glu, XP_047292722.1:p.Gln17Glu, XP_047292723.1:p.Gln17Glu, XP_047292724.1:p.Gln17Glu, XP_047292725.1:p.Gln17Glu, XP_047292716.1:p.Gln17Glu, XP_047292717.1:p.Gln17Glu, XP_047292718.1:p.Gln17Glu, NP_001365040.1:p.Gln17Glu, XP_047292719.1:p.Gln17Glu, XP_047292721.1:p.Gln17Glu, XP_047292720.1:p.Gln17Glu, XP_047292726.1:p.Gln17Glu, XP_047292727.1:p.Gln17Glu, XP_047292728.1:p.Gln17Glu

                                      19.

                                      rs1445723203 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AGTGCTCGGCCATGGCCC>- [Show Flanks]
                                        Chromosome:
                                        17:45143461 (GRCh38)
                                        17:43220828 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:45143455:GGCCCAGTGCTCGGCCATGGCCC:GGCCC
                                        Gene:
                                        ACBD4 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,inframe_deletion,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GGCCC=0./0 (ALFA)
                                        -=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.45143461_45143478del, NC_000017.10:g.43220828_43220845del, NM_024722.4:c.808_825del, NM_024722.3:c.808_825del, NM_024722.2:c.808_825del, XM_017025089.3:c.*681_*698del, XM_017025089.2:c.*681_*698del, NM_001135707.3:c.*851_*868del, NM_001135707.2:c.*851_*868del, XM_017025092.3:c.808_825del, XM_017025092.2:c.808_825del, XM_017025092.1:c.808_825del, XM_006722085.3:c.811_828del, XM_006722085.2:c.811_828del, XM_006722085.1:c.811_828del, NM_001135706.3:c.846_863del, NM_001135706.2:c.846_863del, NM_001135706.1:c.846_863del, NM_001135705.3:c.808_825del, NM_001135705.2:c.808_825del, NM_001135705.1:c.808_825del, XM_017025084.2:c.867_884del, XM_017025084.1:c.867_884del, XM_017025087.2:c.849_866del, XM_017025087.1:c.849_866del, XM_017025088.2:c.846_863del, XM_017025088.1:c.846_863del, XM_017025090.2:c.829_846del, XM_017025090.1:c.829_846del, XM_017025095.2:c.727_744del, XM_017025095.1:c.727_744del, XM_017025097.2:c.706_723del, XM_017025097.1:c.706_723del, XM_017025096.2:c.689_706del, XM_017025096.1:c.689_706del, XM_017025099.2:c.668_685del, XM_017025099.1:c.668_685del, NM_001321352.2:c.846_863del, NM_001321352.1:c.846_863del, NM_001321353.2:c.846_863del, NM_001321353.1:c.846_863del, NM_001378112.1:c.*851_*868del, XM_047436766.1:c.*851_*868del, XM_047436767.1:c.*851_*868del, XM_047436768.1:c.*851_*868del, XM_047436769.1:c.*851_*868del, XM_047436760.1:c.*681_*698del, XM_047436761.1:c.*681_*698del, XM_047436762.1:c.*681_*698del, NM_001378111.1:c.*851_*868del, XM_047436763.1:c.808_825del, XM_047436765.1:c.808_825del, NM_001135704.1:c.846_863del, XM_047436764.1:c.808_825del, XM_047436770.1:c.706_723del, XM_047436771.1:c.668_685del, NM_001411125.1:c.668_685del, NP_078998.1:p.Ser270_Pro275del, XP_016880581.1:p.Ser270_Pro275del, XP_006722148.1:p.Ser271_Pro276del, NP_001129178.1:p.Val283_Pro288del, NP_001129177.1:p.Ser270_Pro275del, XP_016880573.1:p.Val290_Pro295del, XP_016880576.1:p.Val284_Pro289del, XP_016880577.1:p.Val283_Pro288del, XP_016880579.1:p.Ser277_Pro282del, XP_016880584.1:p.Ser243_Pro248del, XP_016880586.1:p.Ser236_Pro241del, XP_016880585.1:p.Gln230_Ala235del, XP_016880588.1:p.Gln223_Ala228del, NP_001308281.1:p.Val283_Pro288del, NP_001308282.1:p.Val283_Pro288del, XP_047292719.1:p.Ser270_Pro275del, XP_047292721.1:p.Ser270_Pro275del, XP_047292720.1:p.Ser270_Pro275del, XP_047292726.1:p.Ser236_Pro241del, XP_047292727.1:p.Gln223_Ala228del

                                        20.

                                        rs1441410519 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:45137743 (GRCh38)
                                          17:43215110 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:45137742:T:C
                                          Gene:
                                          ACBD4 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_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_000017.11:g.45137743T>C, NC_000017.10:g.43215110T>C, NM_001135706.3:c.524T>C, NM_001135706.2:c.524T>C, NM_001135706.1:c.524T>C, XM_011525259.3:c.524T>C, XM_011525259.2:c.524T>C, XM_011525259.1:c.524T>C, XM_017025084.2:c.524T>C, XM_017025084.1:c.524T>C, XM_017025087.2:c.524T>C, XM_017025087.1:c.524T>C, XM_017025088.2:c.524T>C, XM_017025088.1:c.524T>C, XM_017025095.2:c.524T>C, XM_017025095.1:c.524T>C, XM_017025097.2:c.524T>C, XM_017025097.1:c.524T>C, NM_001321352.2:c.524T>C, NM_001321352.1:c.524T>C, NM_001321353.2:c.524T>C, NM_001321353.1:c.524T>C, XM_017025093.2:c.524T>C, XM_017025093.1:c.524T>C, XM_017025100.2:c.524T>C, XM_017025100.1:c.524T>C, NM_001378112.1:c.290T>C, XM_047436766.1:c.524T>C, XM_047436767.1:c.524T>C, XM_047436768.1:c.524T>C, XM_047436769.1:c.524T>C, NM_001378111.1:c.524T>C, NM_001135704.1:c.524T>C, XM_047436770.1:c.524T>C, NP_001129178.1:p.Leu175Pro, XP_011523561.1:p.Leu175Pro, XP_016880573.1:p.Leu175Pro, XP_016880576.1:p.Leu175Pro, XP_016880577.1:p.Leu175Pro, XP_016880584.1:p.Leu175Pro, XP_016880586.1:p.Leu175Pro, NP_001308281.1:p.Leu175Pro, NP_001308282.1:p.Leu175Pro, XP_016880582.1:p.Leu175Pro, XP_016880589.1:p.Leu175Pro, NP_001365041.1:p.Leu97Pro, XP_047292722.1:p.Leu175Pro, XP_047292723.1:p.Leu175Pro, XP_047292724.1:p.Leu175Pro, XP_047292725.1:p.Leu175Pro, NP_001365040.1:p.Leu175Pro, XP_047292726.1:p.Leu175Pro

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