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Items: 1 to 20 of 1353

1.

rs1490989638 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    17:37221775 (GRCh38)
    17:35578696 (GRCh37)
    Canonical SPDI:
    NC_000017.11:37221774:T:G
    Gene:
    ACACA (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_000017.11:g.37221775T>G, NG_023295.2:g.190037A>C, NM_198839.3:c.3521A>C, NM_198839.2:c.3521A>C, NM_198839.1:c.3521A>C, NM_198834.3:c.3632A>C, NM_198834.2:c.3632A>C, NM_198834.1:c.3632A>C, NM_198836.3:c.3521A>C, NM_198836.2:c.3521A>C, NM_198836.1:c.3521A>C, NM_198838.2:c.3287A>C, NM_198838.1:c.3287A>C, NM_198837.2:c.3347A>C, NM_198837.1:c.3347A>C, NT_187614.1:g.1457761T>G, NC_000017.10:g.35578696T>G, XM_005257267.6:c.3287A>C, XM_005257267.5:c.3287A>C, XM_005257267.4:c.3287A>C, XM_005257267.3:c.3287A>C, XM_005257267.2:c.3287A>C, XM_005257267.1:c.3287A>C, XM_011524704.3:c.3287A>C, XM_011524704.2:c.3287A>C, XM_011524704.1:c.3287A>C, NM_000664.3:c.*3398A>C, XM_006721853.2:c.3632A>C, XM_006721853.1:c.3632A>C, NM_000664.2:c.3521A>C, XM_011524701.2:c.3542A>C, XM_011524701.1:c.3542A>C, XM_047435879.1:c.3521A>C, XM_047435881.1:c.3521A>C, XM_047435883.1:c.3521A>C, XM_047435889.1:c.3344A>C, XM_047435886.1:c.3347A>C, XM_047435893.1:c.3287A>C, XM_047435891.1:c.3287A>C, XM_047435892.1:c.3287A>C, XM_047435888.1:c.3344A>C, NM_000664.1:c.3521A>C, XM_047435882.1:c.3521A>C, NM_198835.1:c.*3398A>C, XM_047435880.1:c.3521A>C, XM_047435878.1:c.3521A>C, XM_011524703.1:c.3521A>C, XM_047435885.1:c.3521A>C, XM_047435884.1:c.3521A>C, XM_047435890.1:c.3287A>C, XM_047435894.1:c.3632A>C, NP_942136.1:p.Asn1174Thr, NP_942131.1:p.Asn1211Thr, NP_942133.1:p.Asn1174Thr, NP_942135.1:p.Asn1096Thr, NP_942134.1:p.Asn1116Thr, XP_005257324.1:p.Asn1096Thr, XP_011523006.1:p.Asn1096Thr, XP_006721916.1:p.Asn1211Thr, XP_011523003.1:p.Asn1181Thr, XP_047291835.1:p.Asn1174Thr, XP_047291837.1:p.Asn1174Thr, XP_047291839.1:p.Asn1174Thr, XP_047291845.1:p.Asn1115Thr, XP_047291842.1:p.Asn1116Thr, XP_047291849.1:p.Asn1096Thr, XP_047291847.1:p.Asn1096Thr, XP_047291848.1:p.Asn1096Thr, XP_047291844.1:p.Asn1115Thr, XP_047291838.1:p.Asn1174Thr, XP_047291836.1:p.Asn1174Thr, XP_047291834.1:p.Asn1174Thr, XP_011523005.1:p.Asn1174Thr, XP_047291841.1:p.Asn1174Thr, XP_047291840.1:p.Asn1174Thr, XP_047291846.1:p.Asn1096Thr, XP_047291850.1:p.Asn1211Thr

    2.

    rs1489899701 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      17:37246893 (GRCh38)
      17:35603809 (GRCh37)
      Canonical SPDI:
      NC_000017.11:37246892:T:C
      Gene:
      ACACA (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000017.11:g.37246893T>C, NG_023295.2:g.164919A>G, NM_198839.3:c.2282A>G, NM_198839.2:c.2282A>G, NM_198839.1:c.2282A>G, NM_198834.3:c.2393A>G, NM_198834.2:c.2393A>G, NM_198834.1:c.2393A>G, NM_198836.3:c.2282A>G, NM_198836.2:c.2282A>G, NM_198836.1:c.2282A>G, NM_198838.2:c.2048A>G, NM_198838.1:c.2048A>G, NM_198837.2:c.2108A>G, NM_198837.1:c.2108A>G, NT_187614.1:g.1482874T>C, NC_000017.10:g.35603809T>C, XM_005257267.6:c.2048A>G, XM_005257267.5:c.2048A>G, XM_005257267.4:c.2048A>G, XM_005257267.3:c.2048A>G, XM_005257267.2:c.2048A>G, XM_005257267.1:c.2048A>G, XM_011524704.3:c.2048A>G, XM_011524704.2:c.2048A>G, XM_011524704.1:c.2048A>G, NM_000664.3:c.*2159A>G, XM_006721853.2:c.2393A>G, XM_006721853.1:c.2393A>G, NM_000664.2:c.2282A>G, XM_011524701.2:c.2303A>G, XM_011524701.1:c.2303A>G, XM_047435879.1:c.2282A>G, XM_047435881.1:c.2282A>G, XM_047435883.1:c.2282A>G, XM_047435889.1:c.2105A>G, XM_047435886.1:c.2108A>G, XM_047435893.1:c.2048A>G, XM_047435891.1:c.2048A>G, XM_047435892.1:c.2048A>G, XM_047435888.1:c.2105A>G, NM_000664.1:c.2282A>G, XM_047435882.1:c.2282A>G, NM_198835.1:c.*2159A>G, XM_047435880.1:c.2282A>G, XM_047435878.1:c.2282A>G, XM_011524703.1:c.2282A>G, XM_047435885.1:c.2282A>G, XM_047435884.1:c.2282A>G, XM_047435890.1:c.2048A>G, XM_047435894.1:c.2393A>G, NP_942136.1:p.Lys761Arg, NP_942131.1:p.Lys798Arg, NP_942133.1:p.Lys761Arg, NP_942135.1:p.Lys683Arg, NP_942134.1:p.Lys703Arg, XP_005257324.1:p.Lys683Arg, XP_011523006.1:p.Lys683Arg, XP_006721916.1:p.Lys798Arg, XP_011523003.1:p.Lys768Arg, XP_047291835.1:p.Lys761Arg, XP_047291837.1:p.Lys761Arg, XP_047291839.1:p.Lys761Arg, XP_047291845.1:p.Lys702Arg, XP_047291842.1:p.Lys703Arg, XP_047291849.1:p.Lys683Arg, XP_047291847.1:p.Lys683Arg, XP_047291848.1:p.Lys683Arg, XP_047291844.1:p.Lys702Arg, XP_047291838.1:p.Lys761Arg, XP_047291836.1:p.Lys761Arg, XP_047291834.1:p.Lys761Arg, XP_011523005.1:p.Lys761Arg, XP_047291841.1:p.Lys761Arg, XP_047291840.1:p.Lys761Arg, XP_047291846.1:p.Lys683Arg, XP_047291850.1:p.Lys798Arg

      3.

      rs1489651676 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:37200438 (GRCh38)
        17:35557381 (GRCh37)
        Canonical SPDI:
        NC_000017.11:37200437:C:T
        Gene:
        ACACA (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=0.000007/1 (GnomAD)
        HGVS:
        NC_000017.11:g.37200438C>T, NG_023295.2:g.211374G>A, NM_198839.3:c.3991G>A, NM_198839.2:c.3991G>A, NM_198839.1:c.3991G>A, NM_198834.3:c.4102G>A, NM_198834.2:c.4102G>A, NM_198834.1:c.4102G>A, NM_198836.3:c.3991G>A, NM_198836.2:c.3991G>A, NM_198836.1:c.3991G>A, NM_198838.2:c.3757G>A, NM_198838.1:c.3757G>A, NM_198837.2:c.3817G>A, NM_198837.1:c.3817G>A, NT_187614.1:g.1436446C>T, NC_000017.10:g.35557381C>T, XM_005257267.6:c.3757G>A, XM_005257267.5:c.3757G>A, XM_005257267.4:c.3757G>A, XM_005257267.3:c.3757G>A, XM_005257267.2:c.3757G>A, XM_005257267.1:c.3757G>A, XM_011524704.3:c.3757G>A, XM_011524704.2:c.3757G>A, XM_011524704.1:c.3757G>A, NM_000664.3:c.*3868G>A, XM_006721853.2:c.4078G>A, XM_006721853.1:c.4078G>A, NM_000664.2:c.3991G>A, XM_011524701.2:c.4012G>A, XM_011524701.1:c.4012G>A, XM_047435879.1:c.3991G>A, XM_047435881.1:c.3991G>A, XM_047435883.1:c.3991G>A, XM_047435889.1:c.3814G>A, XM_047435886.1:c.3817G>A, XM_047435893.1:c.3733G>A, XM_047435891.1:c.3733G>A, XM_047435892.1:c.3733G>A, XM_047435888.1:c.3814G>A, NM_000664.1:c.3991G>A, XM_047435882.1:c.3991G>A, NM_198835.1:c.*3868G>A, XM_047435880.1:c.3991G>A, XM_047435878.1:c.3991G>A, XM_011524703.1:c.3991G>A, XM_047435885.1:c.3967G>A, XM_047435884.1:c.3967G>A, XM_047435890.1:c.3757G>A, XM_047435894.1:c.4102G>A, NP_942136.1:p.Val1331Ile, NP_942131.1:p.Val1368Ile, NP_942133.1:p.Val1331Ile, NP_942135.1:p.Val1253Ile, NP_942134.1:p.Val1273Ile, XP_005257324.1:p.Val1253Ile, XP_011523006.1:p.Val1253Ile, XP_006721916.1:p.Val1360Ile, XP_011523003.1:p.Val1338Ile, XP_047291835.1:p.Val1331Ile, XP_047291837.1:p.Val1331Ile, XP_047291839.1:p.Val1331Ile, XP_047291845.1:p.Val1272Ile, XP_047291842.1:p.Val1273Ile, XP_047291849.1:p.Val1245Ile, XP_047291847.1:p.Val1245Ile, XP_047291848.1:p.Val1245Ile, XP_047291844.1:p.Val1272Ile, XP_047291838.1:p.Val1331Ile, XP_047291836.1:p.Val1331Ile, XP_047291834.1:p.Val1331Ile, XP_011523005.1:p.Val1331Ile, XP_047291841.1:p.Val1323Ile, XP_047291840.1:p.Val1323Ile, XP_047291846.1:p.Val1253Ile, XP_047291850.1:p.Val1368Ile

        4.

        rs1489414368 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:37113225 (GRCh38)
          17:35470160 (GRCh37)
          Canonical SPDI:
          NC_000017.11:37113224:C:T
          Gene:
          ACACA (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.37113225C>T, NG_023295.2:g.298587G>A, NM_198839.3:c.6204G>A, NM_198839.2:c.6204G>A, NM_198839.1:c.6204G>A, NM_198834.3:c.6315G>A, NM_198834.2:c.6315G>A, NM_198834.1:c.6315G>A, NM_198836.3:c.6204G>A, NM_198836.2:c.6204G>A, NM_198836.1:c.6204G>A, NM_198838.2:c.5970G>A, NM_198838.1:c.5970G>A, NM_198837.2:c.6030G>A, NM_198837.1:c.6030G>A, NT_187614.1:g.1349225C>T, NC_000017.10:g.35470160C>T, XM_005257267.6:c.5970G>A, XM_005257267.5:c.5970G>A, XM_005257267.4:c.5970G>A, XM_005257267.3:c.5970G>A, XM_005257267.2:c.5970G>A, XM_005257267.1:c.5970G>A, XM_011524704.3:c.5970G>A, XM_011524704.2:c.5970G>A, XM_011524704.1:c.5970G>A, NM_000664.3:c.*6081G>A, XM_006721853.2:c.6291G>A, XM_006721853.1:c.6291G>A, XM_011524701.2:c.6225G>A, XM_011524701.1:c.6225G>A, NM_000664.2:c.6204G>A, XM_047435880.1:c.6204G>A, XM_047435879.1:c.6204G>A, XM_047435882.1:c.6204G>A, XM_047435881.1:c.6204G>A, XM_047435883.1:c.6204G>A, XM_047435889.1:c.6027G>A, XM_047435886.1:c.6030G>A, XM_011524703.1:c.6204G>A, XM_047435885.1:c.6180G>A, XM_047435884.1:c.6180G>A, XM_047435890.1:c.5970G>A, XM_047435893.1:c.5946G>A, XM_047435891.1:c.5946G>A, XM_047435892.1:c.5946G>A, XM_047435888.1:c.6027G>A, NM_000664.1:c.6204G>A, XM_047435878.1:c.6204G>A, NM_198835.1:c.*6081G>A

          5.

          rs1488512934 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:37113195 (GRCh38)
            17:35470130 (GRCh37)
            Canonical SPDI:
            NC_000017.11:37113194:C:T
            Gene:
            ACACA (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.37113195C>T, NG_023295.2:g.298617G>A, NM_198839.3:c.6234G>A, NM_198839.2:c.6234G>A, NM_198839.1:c.6234G>A, NM_198834.3:c.6345G>A, NM_198834.2:c.6345G>A, NM_198834.1:c.6345G>A, NM_198836.3:c.6234G>A, NM_198836.2:c.6234G>A, NM_198836.1:c.6234G>A, NM_198838.2:c.6000G>A, NM_198838.1:c.6000G>A, NM_198837.2:c.6060G>A, NM_198837.1:c.6060G>A, NT_187614.1:g.1349195C>T, NC_000017.10:g.35470130C>T, XM_005257267.6:c.6000G>A, XM_005257267.5:c.6000G>A, XM_005257267.4:c.6000G>A, XM_005257267.3:c.6000G>A, XM_005257267.2:c.6000G>A, XM_005257267.1:c.6000G>A, XM_011524704.3:c.6000G>A, XM_011524704.2:c.6000G>A, XM_011524704.1:c.6000G>A, NM_000664.3:c.*6111G>A, XM_006721853.2:c.6321G>A, XM_006721853.1:c.6321G>A, XM_011524701.2:c.6255G>A, XM_011524701.1:c.6255G>A, NM_000664.2:c.6234G>A, XM_047435880.1:c.6234G>A, XM_047435879.1:c.6234G>A, XM_047435882.1:c.6234G>A, XM_047435881.1:c.6234G>A, XM_047435883.1:c.6234G>A, XM_047435889.1:c.6057G>A, XM_047435886.1:c.6060G>A, XM_011524703.1:c.6234G>A, XM_047435885.1:c.6210G>A, XM_047435884.1:c.6210G>A, XM_047435890.1:c.6000G>A, XM_047435893.1:c.5976G>A, XM_047435891.1:c.5976G>A, XM_047435892.1:c.5976G>A, XM_047435888.1:c.6057G>A, NM_000664.1:c.6234G>A, XM_047435878.1:c.6234G>A, NM_198835.1:c.*6111G>A

            6.

            rs1487523663 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:37097886 (GRCh38)
              17:35454821 (GRCh37)
              Canonical SPDI:
              NC_000017.11:37097885:G:A
              Gene:
              ACACA (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,stop_gained,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000017.11:g.37097886G>A, NG_023295.2:g.313926C>T, NM_198839.3:c.6553C>T, NM_198839.2:c.6553C>T, NM_198839.1:c.6553C>T, NM_198834.3:c.6664C>T, NM_198834.2:c.6664C>T, NM_198834.1:c.6664C>T, NM_198836.3:c.6553C>T, NM_198836.2:c.6553C>T, NM_198836.1:c.6553C>T, NM_198838.2:c.6319C>T, NM_198838.1:c.6319C>T, NM_198837.2:c.6379C>T, NM_198837.1:c.6379C>T, NT_187614.1:g.1333886G>A, NC_000017.10:g.35454821G>A, XM_005257267.6:c.6319C>T, XM_005257267.5:c.6319C>T, XM_005257267.4:c.6319C>T, XM_005257267.3:c.6319C>T, XM_005257267.2:c.6319C>T, XM_005257267.1:c.6319C>T, XM_011524704.3:c.6319C>T, XM_011524704.2:c.6319C>T, XM_011524704.1:c.6319C>T, NM_000664.3:c.*6430C>T, XM_006721853.2:c.6640C>T, XM_006721853.1:c.6640C>T, XM_011524701.2:c.6574C>T, XM_011524701.1:c.6574C>T, NM_000664.2:c.6553C>T, XM_047435880.1:c.6553C>T, XM_047435879.1:c.6553C>T, XM_047435882.1:c.6553C>T, XM_047435881.1:c.6553C>T, XM_047435883.1:c.6553C>T, XM_047435889.1:c.6376C>T, XM_047435886.1:c.6379C>T, XM_011524703.1:c.6553C>T, XM_047435885.1:c.6529C>T, XM_047435884.1:c.6529C>T, XM_047435890.1:c.6319C>T, XM_047435893.1:c.6295C>T, XM_047435891.1:c.6295C>T, XM_047435892.1:c.6295C>T, XM_047435888.1:c.6376C>T, NM_000664.1:c.6553C>T, XM_047435878.1:c.6553C>T, NM_198835.1:c.*6430C>T, NP_942136.1:p.Gln2185Ter, NP_942131.1:p.Gln2222Ter, NP_942133.1:p.Gln2185Ter, NP_942135.1:p.Gln2107Ter, NP_942134.1:p.Gln2127Ter, XP_005257324.1:p.Gln2107Ter, XP_011523006.1:p.Gln2107Ter, XP_006721916.1:p.Gln2214Ter, XP_011523003.1:p.Gln2192Ter, XP_047291836.1:p.Gln2185Ter, XP_047291835.1:p.Gln2185Ter, XP_047291838.1:p.Gln2185Ter, XP_047291837.1:p.Gln2185Ter, XP_047291839.1:p.Gln2185Ter, XP_047291845.1:p.Gln2126Ter, XP_047291842.1:p.Gln2127Ter, XP_011523005.1:p.Gln2185Ter, XP_047291841.1:p.Gln2177Ter, XP_047291840.1:p.Gln2177Ter, XP_047291846.1:p.Gln2107Ter, XP_047291849.1:p.Gln2099Ter, XP_047291847.1:p.Gln2099Ter, XP_047291848.1:p.Gln2099Ter, XP_047291844.1:p.Gln2126Ter, XP_047291834.1:p.Gln2185Ter

              7.

              rs1487450572 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                17:37089053 (GRCh38)
                17:35445988 (GRCh37)
                Canonical SPDI:
                NC_000017.11:37089052:T:G
                Gene:
                ACACA (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.37089053T>G, NG_023295.2:g.322759A>C, NM_198839.3:c.6802A>C, NM_198839.2:c.6802A>C, NM_198839.1:c.6802A>C, NM_198834.3:c.6913A>C, NM_198834.2:c.6913A>C, NM_198834.1:c.6913A>C, NM_198836.3:c.6802A>C, NM_198836.2:c.6802A>C, NM_198836.1:c.6802A>C, NM_198838.2:c.6568A>C, NM_198838.1:c.6568A>C, NM_198837.2:c.6628A>C, NM_198837.1:c.6628A>C, NT_187614.1:g.1325053T>G, NC_000017.10:g.35445988T>G, XM_005257267.6:c.6568A>C, XM_005257267.5:c.6568A>C, XM_005257267.4:c.6568A>C, XM_005257267.3:c.6568A>C, XM_005257267.2:c.6568A>C, XM_005257267.1:c.6568A>C, XM_011524704.3:c.6568A>C, XM_011524704.2:c.6568A>C, XM_011524704.1:c.6568A>C, NM_000664.3:c.*6679A>C, XM_006721853.2:c.6889A>C, XM_006721853.1:c.6889A>C, XM_011524701.2:c.6823A>C, XM_011524701.1:c.6823A>C, NM_000664.2:c.6802A>C, XM_047435880.1:c.6802A>C, XM_047435879.1:c.6802A>C, XM_047435882.1:c.6802A>C, XM_047435881.1:c.6802A>C, XM_047435883.1:c.6802A>C, XM_047435889.1:c.6625A>C, XM_047435886.1:c.6628A>C, XM_011524703.1:c.6802A>C, XM_047435885.1:c.6778A>C, XM_047435884.1:c.6778A>C, XM_047435890.1:c.6568A>C, XM_047435893.1:c.6544A>C, XM_047435891.1:c.6544A>C, XM_047435892.1:c.6544A>C, XM_047435888.1:c.6625A>C, NM_000664.1:c.6802A>C, NM_198835.1:c.*6679A>C, XM_047435878.1:c.6802A>C, NP_942136.1:p.Lys2268Gln, NP_942131.1:p.Lys2305Gln, NP_942133.1:p.Lys2268Gln, NP_942135.1:p.Lys2190Gln, NP_942134.1:p.Lys2210Gln, XP_005257324.1:p.Lys2190Gln, XP_011523006.1:p.Lys2190Gln, XP_006721916.1:p.Lys2297Gln, XP_011523003.1:p.Lys2275Gln, XP_047291836.1:p.Lys2268Gln, XP_047291835.1:p.Lys2268Gln, XP_047291838.1:p.Lys2268Gln, XP_047291837.1:p.Lys2268Gln, XP_047291839.1:p.Lys2268Gln, XP_047291845.1:p.Lys2209Gln, XP_047291842.1:p.Lys2210Gln, XP_011523005.1:p.Lys2268Gln, XP_047291841.1:p.Lys2260Gln, XP_047291840.1:p.Lys2260Gln, XP_047291846.1:p.Lys2190Gln, XP_047291849.1:p.Lys2182Gln, XP_047291847.1:p.Lys2182Gln, XP_047291848.1:p.Lys2182Gln, XP_047291844.1:p.Lys2209Gln, XP_047291834.1:p.Lys2268Gln

                8.

                rs1486289265 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:37162019 (GRCh38)
                  17:35518933 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:37162018:T:C
                  Gene:
                  ACACA (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000017.11:g.37162019T>C, NG_023295.2:g.249793A>G, NM_198839.3:c.5000A>G, NM_198839.2:c.5000A>G, NM_198839.1:c.5000A>G, NM_198834.3:c.5111A>G, NM_198834.2:c.5111A>G, NM_198834.1:c.5111A>G, NM_198836.3:c.5000A>G, NM_198836.2:c.5000A>G, NM_198836.1:c.5000A>G, NM_198838.2:c.4766A>G, NM_198838.1:c.4766A>G, NM_198837.2:c.4826A>G, NM_198837.1:c.4826A>G, NT_187614.1:g.1397998T>C, NC_000017.10:g.35518933T>C, XM_005257267.6:c.4766A>G, XM_005257267.5:c.4766A>G, XM_005257267.4:c.4766A>G, XM_005257267.3:c.4766A>G, XM_005257267.2:c.4766A>G, XM_005257267.1:c.4766A>G, XM_011524704.3:c.4766A>G, XM_011524704.2:c.4766A>G, XM_011524704.1:c.4766A>G, NM_000664.3:c.*4877A>G, XM_006721853.2:c.5087A>G, XM_006721853.1:c.5087A>G, NM_000664.2:c.5000A>G, XM_011524701.2:c.5021A>G, XM_011524701.1:c.5021A>G, XM_047435879.1:c.5000A>G, XM_047435881.1:c.5000A>G, XM_047435883.1:c.5000A>G, XM_047435889.1:c.4823A>G, XM_047435886.1:c.4826A>G, XM_047435893.1:c.4742A>G, XM_047435891.1:c.4742A>G, XM_047435892.1:c.4742A>G, XM_047435888.1:c.4823A>G, NM_000664.1:c.5000A>G, XM_047435882.1:c.5000A>G, NM_198835.1:c.*4877A>G, XM_047435880.1:c.5000A>G, XM_047435878.1:c.5000A>G, XM_011524703.1:c.5000A>G, XM_047435885.1:c.4976A>G, XM_047435884.1:c.4976A>G, XM_047435890.1:c.4766A>G, XM_047435894.1:c.5111A>G, NP_942136.1:p.Lys1667Arg, NP_942131.1:p.Lys1704Arg, NP_942133.1:p.Lys1667Arg, NP_942135.1:p.Lys1589Arg, NP_942134.1:p.Lys1609Arg, XP_005257324.1:p.Lys1589Arg, XP_011523006.1:p.Lys1589Arg, XP_006721916.1:p.Lys1696Arg, XP_011523003.1:p.Lys1674Arg, XP_047291835.1:p.Lys1667Arg, XP_047291837.1:p.Lys1667Arg, XP_047291839.1:p.Lys1667Arg, XP_047291845.1:p.Lys1608Arg, XP_047291842.1:p.Lys1609Arg, XP_047291849.1:p.Lys1581Arg, XP_047291847.1:p.Lys1581Arg, XP_047291848.1:p.Lys1581Arg, XP_047291844.1:p.Lys1608Arg, XP_047291838.1:p.Lys1667Arg, XP_047291836.1:p.Lys1667Arg, XP_047291834.1:p.Lys1667Arg, XP_011523005.1:p.Lys1667Arg, XP_047291841.1:p.Lys1659Arg, XP_047291840.1:p.Lys1659Arg, XP_047291846.1:p.Lys1589Arg, XP_047291850.1:p.Lys1704Arg

                  9.

                  rs1484374901 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    17:37245189 (GRCh38)
                    17:35602105 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:37245188:G:C
                    Gene:
                    ACACA (Varview), SNORA90 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.37245189G>C, NG_023295.2:g.166623C>G, NM_198839.3:c.2375C>G, NM_198839.2:c.2375C>G, NM_198839.1:c.2375C>G, NM_198834.3:c.2486C>G, NM_198834.2:c.2486C>G, NM_198834.1:c.2486C>G, NM_198836.3:c.2375C>G, NM_198836.2:c.2375C>G, NM_198836.1:c.2375C>G, NM_198838.2:c.2141C>G, NM_198838.1:c.2141C>G, NM_198837.2:c.2201C>G, NM_198837.1:c.2201C>G, NT_187614.1:g.1481170G>C, NC_000017.10:g.35602105G>C, XM_005257267.6:c.2141C>G, XM_005257267.5:c.2141C>G, XM_005257267.4:c.2141C>G, XM_005257267.3:c.2141C>G, XM_005257267.2:c.2141C>G, XM_005257267.1:c.2141C>G, XM_011524704.3:c.2141C>G, XM_011524704.2:c.2141C>G, XM_011524704.1:c.2141C>G, NM_000664.3:c.*2252C>G, XM_006721853.2:c.2486C>G, XM_006721853.1:c.2486C>G, NM_000664.2:c.2375C>G, XM_011524701.2:c.2396C>G, XM_011524701.1:c.2396C>G, XM_047435879.1:c.2375C>G, XM_047435881.1:c.2375C>G, XM_047435883.1:c.2375C>G, XM_047435889.1:c.2198C>G, XM_047435886.1:c.2201C>G, XM_047435893.1:c.2141C>G, XM_047435891.1:c.2141C>G, XM_047435892.1:c.2141C>G, XM_047435888.1:c.2198C>G, NM_000664.1:c.2375C>G, XM_047435882.1:c.2375C>G, NM_198835.1:c.*2252C>G, XM_047435880.1:c.2375C>G, XM_047435878.1:c.2375C>G, XM_011524703.1:c.2375C>G, XM_047435885.1:c.2375C>G, XM_047435884.1:c.2375C>G, XM_047435890.1:c.2141C>G, XM_047435894.1:c.2486C>G, NP_942136.1:p.Thr792Arg, NP_942131.1:p.Thr829Arg, NP_942133.1:p.Thr792Arg, NP_942135.1:p.Thr714Arg, NP_942134.1:p.Thr734Arg, XP_005257324.1:p.Thr714Arg, XP_011523006.1:p.Thr714Arg, XP_006721916.1:p.Thr829Arg, XP_011523003.1:p.Thr799Arg, XP_047291835.1:p.Thr792Arg, XP_047291837.1:p.Thr792Arg, XP_047291839.1:p.Thr792Arg, XP_047291845.1:p.Thr733Arg, XP_047291842.1:p.Thr734Arg, XP_047291849.1:p.Thr714Arg, XP_047291847.1:p.Thr714Arg, XP_047291848.1:p.Thr714Arg, XP_047291844.1:p.Thr733Arg, XP_047291838.1:p.Thr792Arg, XP_047291836.1:p.Thr792Arg, XP_047291834.1:p.Thr792Arg, XP_011523005.1:p.Thr792Arg, XP_047291841.1:p.Thr792Arg, XP_047291840.1:p.Thr792Arg, XP_047291846.1:p.Thr714Arg, XP_047291850.1:p.Thr829Arg

                    10.

                    rs1484041972 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:37205814 (GRCh38)
                      17:35562728 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:37205813:A:G
                      Gene:
                      ACACA (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.37205814A>G, NG_023295.2:g.205998T>C, NM_198839.3:c.3896T>C, NM_198839.2:c.3896T>C, NM_198839.1:c.3896T>C, NM_198834.3:c.4007T>C, NM_198834.2:c.4007T>C, NM_198834.1:c.4007T>C, NM_198836.3:c.3896T>C, NM_198836.2:c.3896T>C, NM_198836.1:c.3896T>C, NM_198838.2:c.3662T>C, NM_198838.1:c.3662T>C, NM_198837.2:c.3722T>C, NM_198837.1:c.3722T>C, NT_187614.1:g.1441793A>G, NC_000017.10:g.35562728A>G, XM_005257267.6:c.3662T>C, XM_005257267.5:c.3662T>C, XM_005257267.4:c.3662T>C, XM_005257267.3:c.3662T>C, XM_005257267.2:c.3662T>C, XM_005257267.1:c.3662T>C, XM_011524704.3:c.3662T>C, XM_011524704.2:c.3662T>C, XM_011524704.1:c.3662T>C, NM_000664.3:c.*3773T>C, XM_006721853.2:c.3983T>C, XM_006721853.1:c.3983T>C, NM_000664.2:c.3896T>C, XM_011524701.2:c.3917T>C, XM_011524701.1:c.3917T>C, XM_047435879.1:c.3896T>C, XM_047435881.1:c.3896T>C, XM_047435883.1:c.3896T>C, XM_047435889.1:c.3719T>C, XM_047435886.1:c.3722T>C, XM_047435893.1:c.3638T>C, XM_047435891.1:c.3638T>C, XM_047435892.1:c.3638T>C, XM_047435888.1:c.3719T>C, NM_000664.1:c.3896T>C, XM_047435882.1:c.3896T>C, NM_198835.1:c.*3773T>C, XM_047435880.1:c.3896T>C, XM_047435878.1:c.3896T>C, XM_011524703.1:c.3896T>C, XM_047435885.1:c.3872T>C, XM_047435884.1:c.3872T>C, XM_047435890.1:c.3662T>C, XM_047435894.1:c.4007T>C, NP_942136.1:p.Ile1299Thr, NP_942131.1:p.Ile1336Thr, NP_942133.1:p.Ile1299Thr, NP_942135.1:p.Ile1221Thr, NP_942134.1:p.Ile1241Thr, XP_005257324.1:p.Ile1221Thr, XP_011523006.1:p.Ile1221Thr, XP_006721916.1:p.Ile1328Thr, XP_011523003.1:p.Ile1306Thr, XP_047291835.1:p.Ile1299Thr, XP_047291837.1:p.Ile1299Thr, XP_047291839.1:p.Ile1299Thr, XP_047291845.1:p.Ile1240Thr, XP_047291842.1:p.Ile1241Thr, XP_047291849.1:p.Ile1213Thr, XP_047291847.1:p.Ile1213Thr, XP_047291848.1:p.Ile1213Thr, XP_047291844.1:p.Ile1240Thr, XP_047291838.1:p.Ile1299Thr, XP_047291836.1:p.Ile1299Thr, XP_047291834.1:p.Ile1299Thr, XP_011523005.1:p.Ile1299Thr, XP_047291841.1:p.Ile1291Thr, XP_047291840.1:p.Ile1291Thr, XP_047291846.1:p.Ile1221Thr, XP_047291850.1:p.Ile1336Thr

                      11.

                      rs1484000480 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:37193387 (GRCh38)
                        17:35550328 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:37193386:C:T
                        Gene:
                        ACACA (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000017.11:g.37193387C>T, NG_023295.2:g.218425G>A, NM_198839.3:c.4076G>A, NM_198839.2:c.4076G>A, NM_198839.1:c.4076G>A, NM_198834.3:c.4187G>A, NM_198834.2:c.4187G>A, NM_198834.1:c.4187G>A, NM_198836.3:c.4076G>A, NM_198836.2:c.4076G>A, NM_198836.1:c.4076G>A, NM_198838.2:c.3842G>A, NM_198838.1:c.3842G>A, NM_198837.2:c.3902G>A, NM_198837.1:c.3902G>A, NT_187614.1:g.1429393C>T, NC_000017.10:g.35550328C>T, XM_005257267.6:c.3842G>A, XM_005257267.5:c.3842G>A, XM_005257267.4:c.3842G>A, XM_005257267.3:c.3842G>A, XM_005257267.2:c.3842G>A, XM_005257267.1:c.3842G>A, XM_011524704.3:c.3842G>A, XM_011524704.2:c.3842G>A, XM_011524704.1:c.3842G>A, NM_000664.3:c.*3953G>A, XM_006721853.2:c.4163G>A, XM_006721853.1:c.4163G>A, NM_000664.2:c.4076G>A, XM_011524701.2:c.4097G>A, XM_011524701.1:c.4097G>A, XM_047435879.1:c.4076G>A, XM_047435881.1:c.4076G>A, XM_047435883.1:c.4076G>A, XM_047435889.1:c.3899G>A, XM_047435886.1:c.3902G>A, XM_047435893.1:c.3818G>A, XM_047435891.1:c.3818G>A, XM_047435892.1:c.3818G>A, XM_047435888.1:c.3899G>A, NM_000664.1:c.4076G>A, XM_047435882.1:c.4076G>A, NM_198835.1:c.*3953G>A, XM_047435880.1:c.4076G>A, XM_047435878.1:c.4076G>A, XM_011524703.1:c.4076G>A, XM_047435885.1:c.4052G>A, XM_047435884.1:c.4052G>A, XM_047435890.1:c.3842G>A, XM_047435894.1:c.4187G>A, NP_942136.1:p.Arg1359Gln, NP_942131.1:p.Arg1396Gln, NP_942133.1:p.Arg1359Gln, NP_942135.1:p.Arg1281Gln, NP_942134.1:p.Arg1301Gln, XP_005257324.1:p.Arg1281Gln, XP_011523006.1:p.Arg1281Gln, XP_006721916.1:p.Arg1388Gln, XP_011523003.1:p.Arg1366Gln, XP_047291835.1:p.Arg1359Gln, XP_047291837.1:p.Arg1359Gln, XP_047291839.1:p.Arg1359Gln, XP_047291845.1:p.Arg1300Gln, XP_047291842.1:p.Arg1301Gln, XP_047291849.1:p.Arg1273Gln, XP_047291847.1:p.Arg1273Gln, XP_047291848.1:p.Arg1273Gln, XP_047291844.1:p.Arg1300Gln, XP_047291838.1:p.Arg1359Gln, XP_047291836.1:p.Arg1359Gln, XP_047291834.1:p.Arg1359Gln, XP_011523005.1:p.Arg1359Gln, XP_047291841.1:p.Arg1351Gln, XP_047291840.1:p.Arg1351Gln, XP_047291846.1:p.Arg1281Gln, XP_047291850.1:p.Arg1396Gln

                        12.

                        rs1482400083 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:37097119 (GRCh38)
                          17:35454054 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:37097118:C:T
                          Gene:
                          ACACA (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000017.11:g.37097119C>T, NG_023295.2:g.314693G>A, NM_198839.3:c.6657G>A, NM_198839.2:c.6657G>A, NM_198839.1:c.6657G>A, NM_198834.3:c.6768G>A, NM_198834.2:c.6768G>A, NM_198834.1:c.6768G>A, NM_198836.3:c.6657G>A, NM_198836.2:c.6657G>A, NM_198836.1:c.6657G>A, NM_198838.2:c.6423G>A, NM_198838.1:c.6423G>A, NM_198837.2:c.6483G>A, NM_198837.1:c.6483G>A, NT_187614.1:g.1333119C>T, NC_000017.10:g.35454054C>T, XM_005257267.6:c.6423G>A, XM_005257267.5:c.6423G>A, XM_005257267.4:c.6423G>A, XM_005257267.3:c.6423G>A, XM_005257267.2:c.6423G>A, XM_005257267.1:c.6423G>A, XM_011524704.3:c.6423G>A, XM_011524704.2:c.6423G>A, XM_011524704.1:c.6423G>A, NM_000664.3:c.*6534G>A, XM_006721853.2:c.6744G>A, XM_006721853.1:c.6744G>A, XM_011524701.2:c.6678G>A, XM_011524701.1:c.6678G>A, NM_000664.2:c.6657G>A, XM_047435880.1:c.6657G>A, XM_047435879.1:c.6657G>A, XM_047435882.1:c.6657G>A, XM_047435881.1:c.6657G>A, XM_047435883.1:c.6657G>A, XM_047435889.1:c.6480G>A, XM_047435886.1:c.6483G>A, XM_011524703.1:c.6657G>A, XM_047435885.1:c.6633G>A, XM_047435884.1:c.6633G>A, XM_047435890.1:c.6423G>A, XM_047435893.1:c.6399G>A, XM_047435891.1:c.6399G>A, XM_047435892.1:c.6399G>A, XM_047435888.1:c.6480G>A, NM_000664.1:c.6657G>A, XM_047435878.1:c.6657G>A, NM_198835.1:c.*6534G>A

                          13.

                          rs1482201134 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:37241958 (GRCh38)
                            17:35598874 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:37241957:T:C
                            Gene:
                            ACACA (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.37241958T>C, NG_023295.2:g.169854A>G, NM_198839.3:c.2916A>G, NM_198839.2:c.2916A>G, NM_198839.1:c.2916A>G, NM_198834.3:c.3027A>G, NM_198834.2:c.3027A>G, NM_198834.1:c.3027A>G, NM_198836.3:c.2916A>G, NM_198836.2:c.2916A>G, NM_198836.1:c.2916A>G, NM_198838.2:c.2682A>G, NM_198838.1:c.2682A>G, NM_198837.2:c.2742A>G, NM_198837.1:c.2742A>G, NT_187614.1:g.1477939T>C, NC_000017.10:g.35598874T>C, XM_005257267.6:c.2682A>G, XM_005257267.5:c.2682A>G, XM_005257267.4:c.2682A>G, XM_005257267.3:c.2682A>G, XM_005257267.2:c.2682A>G, XM_005257267.1:c.2682A>G, XM_011524704.3:c.2682A>G, XM_011524704.2:c.2682A>G, XM_011524704.1:c.2682A>G, NM_000664.3:c.*2793A>G, XM_006721853.2:c.3027A>G, XM_006721853.1:c.3027A>G, NM_000664.2:c.2916A>G, XM_011524701.2:c.2937A>G, XM_011524701.1:c.2937A>G, XM_047435879.1:c.2916A>G, XM_047435881.1:c.2916A>G, XM_047435883.1:c.2916A>G, XM_047435889.1:c.2739A>G, XM_047435886.1:c.2742A>G, XM_047435893.1:c.2682A>G, XM_047435891.1:c.2682A>G, XM_047435892.1:c.2682A>G, XM_047435888.1:c.2739A>G, NM_000664.1:c.2916A>G, XM_047435882.1:c.2916A>G, NM_198835.1:c.*2793A>G, XM_047435880.1:c.2916A>G, XM_047435878.1:c.2916A>G, XM_011524703.1:c.2916A>G, XM_047435885.1:c.2916A>G, XM_047435884.1:c.2916A>G, XM_047435890.1:c.2682A>G, XM_047435894.1:c.3027A>G

                            14.

                            rs1480035133 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:37248108 (GRCh38)
                              17:35605032 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:37248107:A:G
                              Gene:
                              ACACA (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.37248108A>G, NG_023295.2:g.163704T>C, NM_198839.3:c.2101T>C, NM_198839.2:c.2101T>C, NM_198839.1:c.2101T>C, NM_198834.3:c.2212T>C, NM_198834.2:c.2212T>C, NM_198834.1:c.2212T>C, NM_198836.3:c.2101T>C, NM_198836.2:c.2101T>C, NM_198836.1:c.2101T>C, NM_198838.2:c.1867T>C, NM_198838.1:c.1867T>C, NM_198837.2:c.1927T>C, NM_198837.1:c.1927T>C, NT_187614.1:g.1484097A>G, NC_000017.10:g.35605032A>G, XM_005257267.6:c.1867T>C, XM_005257267.5:c.1867T>C, XM_005257267.4:c.1867T>C, XM_005257267.3:c.1867T>C, XM_005257267.2:c.1867T>C, XM_005257267.1:c.1867T>C, XM_011524704.3:c.1867T>C, XM_011524704.2:c.1867T>C, XM_011524704.1:c.1867T>C, NM_000664.3:c.*1978T>C, XM_006721853.2:c.2212T>C, XM_006721853.1:c.2212T>C, NM_000664.2:c.2101T>C, XM_011524701.2:c.2122T>C, XM_011524701.1:c.2122T>C, XM_047435879.1:c.2101T>C, XM_047435881.1:c.2101T>C, XM_047435883.1:c.2101T>C, XM_047435889.1:c.1924T>C, XM_047435886.1:c.1927T>C, XM_047435893.1:c.1867T>C, XM_047435891.1:c.1867T>C, XM_047435892.1:c.1867T>C, XM_047435888.1:c.1924T>C, NM_000664.1:c.2101T>C, XM_047435882.1:c.2101T>C, NM_198835.1:c.*1978T>C, XM_047435880.1:c.2101T>C, XM_047435878.1:c.2101T>C, XM_011524703.1:c.2101T>C, XM_047435885.1:c.2101T>C, XM_047435884.1:c.2101T>C, XM_047435890.1:c.1867T>C, XM_047435894.1:c.2212T>C, NP_942136.1:p.Cys701Arg, NP_942131.1:p.Cys738Arg, NP_942133.1:p.Cys701Arg, NP_942135.1:p.Cys623Arg, NP_942134.1:p.Cys643Arg, XP_005257324.1:p.Cys623Arg, XP_011523006.1:p.Cys623Arg, XP_006721916.1:p.Cys738Arg, XP_011523003.1:p.Cys708Arg, XP_047291835.1:p.Cys701Arg, XP_047291837.1:p.Cys701Arg, XP_047291839.1:p.Cys701Arg, XP_047291845.1:p.Cys642Arg, XP_047291842.1:p.Cys643Arg, XP_047291849.1:p.Cys623Arg, XP_047291847.1:p.Cys623Arg, XP_047291848.1:p.Cys623Arg, XP_047291844.1:p.Cys642Arg, XP_047291838.1:p.Cys701Arg, XP_047291836.1:p.Cys701Arg, XP_047291834.1:p.Cys701Arg, XP_011523005.1:p.Cys701Arg, XP_047291841.1:p.Cys701Arg, XP_047291840.1:p.Cys701Arg, XP_047291846.1:p.Cys623Arg, XP_047291850.1:p.Cys738Arg

                              15.

                              rs1479085458 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:37121479 (GRCh38)
                                17:35478401 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:37121478:C:T
                                Gene:
                                ACACA (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.37121479C>T, NG_023295.2:g.290333G>A, NM_198839.3:c.6039G>A, NM_198839.2:c.6039G>A, NM_198839.1:c.6039G>A, NM_198834.3:c.6150G>A, NM_198834.2:c.6150G>A, NM_198834.1:c.6150G>A, NM_198836.3:c.6039G>A, NM_198836.2:c.6039G>A, NM_198836.1:c.6039G>A, NM_198838.2:c.5805G>A, NM_198838.1:c.5805G>A, NM_198837.2:c.5865G>A, NM_198837.1:c.5865G>A, NT_187614.1:g.1357466C>T, NC_000017.10:g.35478401C>T, XM_005257267.6:c.5805G>A, XM_005257267.5:c.5805G>A, XM_005257267.4:c.5805G>A, XM_005257267.3:c.5805G>A, XM_005257267.2:c.5805G>A, XM_005257267.1:c.5805G>A, XM_011524704.3:c.5805G>A, XM_011524704.2:c.5805G>A, XM_011524704.1:c.5805G>A, NM_000664.3:c.*5916G>A, XM_006721853.2:c.6126G>A, XM_006721853.1:c.6126G>A, XM_011524701.2:c.6060G>A, XM_011524701.1:c.6060G>A, NM_000664.2:c.6039G>A, XM_047435880.1:c.6039G>A, XM_047435879.1:c.6039G>A, XM_047435882.1:c.6039G>A, XM_047435881.1:c.6039G>A, XM_047435883.1:c.6039G>A, XM_047435889.1:c.5862G>A, XM_047435886.1:c.5865G>A, XM_011524703.1:c.6039G>A, XM_047435885.1:c.6015G>A, XM_047435884.1:c.6015G>A, XM_047435890.1:c.5805G>A, XM_047435893.1:c.5781G>A, XM_047435891.1:c.5781G>A, XM_047435892.1:c.5781G>A, XM_047435888.1:c.5862G>A, NM_000664.1:c.6039C>G, NM_000664.1:c.6039C>A, NM_198835.1:c.*5916G>A, XM_047435878.1:c.6039G>A

                                16.

                                rs1479025160 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  17:37097133 (GRCh38)
                                  17:35454068 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:37097132:A:G
                                  Gene:
                                  ACACA (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.37097133A>G, NG_023295.2:g.314679T>C, NM_198839.3:c.6643T>C, NM_198839.2:c.6643T>C, NM_198839.1:c.6643T>C, NM_198834.3:c.6754T>C, NM_198834.2:c.6754T>C, NM_198834.1:c.6754T>C, NM_198836.3:c.6643T>C, NM_198836.2:c.6643T>C, NM_198836.1:c.6643T>C, NM_198838.2:c.6409T>C, NM_198838.1:c.6409T>C, NM_198837.2:c.6469T>C, NM_198837.1:c.6469T>C, NT_187614.1:g.1333133A>G, NC_000017.10:g.35454068A>G, XM_005257267.6:c.6409T>C, XM_005257267.5:c.6409T>C, XM_005257267.4:c.6409T>C, XM_005257267.3:c.6409T>C, XM_005257267.2:c.6409T>C, XM_005257267.1:c.6409T>C, XM_011524704.3:c.6409T>C, XM_011524704.2:c.6409T>C, XM_011524704.1:c.6409T>C, NM_000664.3:c.*6520T>C, XM_006721853.2:c.6730T>C, XM_006721853.1:c.6730T>C, XM_011524701.2:c.6664T>C, XM_011524701.1:c.6664T>C, NM_000664.2:c.6643T>C, XM_047435880.1:c.6643T>C, XM_047435879.1:c.6643T>C, XM_047435882.1:c.6643T>C, XM_047435881.1:c.6643T>C, XM_047435883.1:c.6643T>C, XM_047435889.1:c.6466T>C, XM_047435886.1:c.6469T>C, XM_011524703.1:c.6643T>C, XM_047435885.1:c.6619T>C, XM_047435884.1:c.6619T>C, XM_047435890.1:c.6409T>C, XM_047435893.1:c.6385T>C, XM_047435891.1:c.6385T>C, XM_047435892.1:c.6385T>C, XM_047435888.1:c.6466T>C, NM_000664.1:c.6643T>C, NM_198835.1:c.*6520T>C, XM_047435878.1:c.6643T>C, NP_942136.1:p.Phe2215Leu, NP_942131.1:p.Phe2252Leu, NP_942133.1:p.Phe2215Leu, NP_942135.1:p.Phe2137Leu, NP_942134.1:p.Phe2157Leu, XP_005257324.1:p.Phe2137Leu, XP_011523006.1:p.Phe2137Leu, XP_006721916.1:p.Phe2244Leu, XP_011523003.1:p.Phe2222Leu, XP_047291836.1:p.Phe2215Leu, XP_047291835.1:p.Phe2215Leu, XP_047291838.1:p.Phe2215Leu, XP_047291837.1:p.Phe2215Leu, XP_047291839.1:p.Phe2215Leu, XP_047291845.1:p.Phe2156Leu, XP_047291842.1:p.Phe2157Leu, XP_011523005.1:p.Phe2215Leu, XP_047291841.1:p.Phe2207Leu, XP_047291840.1:p.Phe2207Leu, XP_047291846.1:p.Phe2137Leu, XP_047291849.1:p.Phe2129Leu, XP_047291847.1:p.Phe2129Leu, XP_047291848.1:p.Phe2129Leu, XP_047291844.1:p.Phe2156Leu, XP_047291834.1:p.Phe2215Leu

                                  17.

                                  rs1478520111 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:37283319 (GRCh38)
                                    17:35640220 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:37283318:A:G
                                    Gene:
                                    ACACA (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.37283319A>G, NG_023295.2:g.128493T>C, NM_198839.3:c.447T>C, NM_198839.2:c.447T>C, NM_198839.1:c.447T>C, NM_198834.3:c.558T>C, NM_198834.2:c.558T>C, NM_198834.1:c.558T>C, NM_198836.3:c.447T>C, NM_198836.2:c.447T>C, NM_198836.1:c.447T>C, NM_198838.2:c.213T>C, NM_198838.1:c.213T>C, NM_198837.2:c.273T>C, NM_198837.1:c.273T>C, NT_187614.1:g.1519285A>G, NC_000017.10:g.35640220A>G, XM_005257267.6:c.213T>C, XM_005257267.5:c.213T>C, XM_005257267.4:c.213T>C, XM_005257267.3:c.213T>C, XM_005257267.2:c.213T>C, XM_005257267.1:c.213T>C, XM_011524704.3:c.213T>C, XM_011524704.2:c.213T>C, XM_011524704.1:c.213T>C, NM_000664.3:c.*324T>C, XM_006721853.2:c.558T>C, XM_006721853.1:c.558T>C, NM_000664.2:c.447T>C, XM_011524701.2:c.468T>C, XM_011524701.1:c.468T>C, XM_047435879.1:c.447T>C, XM_047435881.1:c.447T>C, XM_047435883.1:c.447T>C, XM_047435889.1:c.270T>C, XM_047435886.1:c.273T>C, XM_047435893.1:c.213T>C, XM_047435891.1:c.213T>C, XM_047435892.1:c.213T>C, XM_047435888.1:c.270T>C, NM_000664.1:c.447T>C, XM_047435882.1:c.447T>C, NM_198835.1:c.*324T>C, XM_047435880.1:c.447T>C, XM_047435878.1:c.447T>C, XM_011524703.1:c.447T>C, XM_047435885.1:c.447T>C, XM_047435884.1:c.447T>C, XM_047435890.1:c.213T>C, XM_047435894.1:c.558T>C

                                    18.

                                    rs1478324178 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      17:37192236 (GRCh38)
                                      17:35549177 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:37192235:T:C
                                      Gene:
                                      ACACA (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000017.11:g.37192236T>C, NG_023295.2:g.219576A>G, NM_198839.3:c.4159A>G, NM_198839.2:c.4159A>G, NM_198839.1:c.4159A>G, NM_198834.3:c.4270A>G, NM_198834.2:c.4270A>G, NM_198834.1:c.4270A>G, NM_198836.3:c.4159A>G, NM_198836.2:c.4159A>G, NM_198836.1:c.4159A>G, NM_198838.2:c.3925A>G, NM_198838.1:c.3925A>G, NM_198837.2:c.3985A>G, NM_198837.1:c.3985A>G, NT_187614.1:g.1428242T>C, NC_000017.10:g.35549177T>C, XM_005257267.6:c.3925A>G, XM_005257267.5:c.3925A>G, XM_005257267.4:c.3925A>G, XM_005257267.3:c.3925A>G, XM_005257267.2:c.3925A>G, XM_005257267.1:c.3925A>G, XM_011524704.3:c.3925A>G, XM_011524704.2:c.3925A>G, XM_011524704.1:c.3925A>G, NM_000664.3:c.*4036A>G, XM_006721853.2:c.4246A>G, XM_006721853.1:c.4246A>G, NM_000664.2:c.4159A>G, XM_011524701.2:c.4180A>G, XM_011524701.1:c.4180A>G, XM_047435879.1:c.4159A>G, XM_047435881.1:c.4159A>G, XM_047435883.1:c.4159A>G, XM_047435889.1:c.3982A>G, XM_047435886.1:c.3985A>G, XM_047435893.1:c.3901A>G, XM_047435891.1:c.3901A>G, XM_047435892.1:c.3901A>G, XM_047435888.1:c.3982A>G, NM_000664.1:c.4159A>G, XM_047435882.1:c.4159A>G, NM_198835.1:c.*4036A>G, XM_047435880.1:c.4159A>G, XM_047435878.1:c.4159A>G, XM_011524703.1:c.4159A>G, XM_047435885.1:c.4135A>G, XM_047435884.1:c.4135A>G, XM_047435890.1:c.3925A>G, XM_047435894.1:c.4270A>G, NP_942136.1:p.Arg1387Gly, NP_942131.1:p.Arg1424Gly, NP_942133.1:p.Arg1387Gly, NP_942135.1:p.Arg1309Gly, NP_942134.1:p.Arg1329Gly, XP_005257324.1:p.Arg1309Gly, XP_011523006.1:p.Arg1309Gly, XP_006721916.1:p.Arg1416Gly, XP_011523003.1:p.Arg1394Gly, XP_047291835.1:p.Arg1387Gly, XP_047291837.1:p.Arg1387Gly, XP_047291839.1:p.Arg1387Gly, XP_047291845.1:p.Arg1328Gly, XP_047291842.1:p.Arg1329Gly, XP_047291849.1:p.Arg1301Gly, XP_047291847.1:p.Arg1301Gly, XP_047291848.1:p.Arg1301Gly, XP_047291844.1:p.Arg1328Gly, XP_047291838.1:p.Arg1387Gly, XP_047291836.1:p.Arg1387Gly, XP_047291834.1:p.Arg1387Gly, XP_011523005.1:p.Arg1387Gly, XP_047291841.1:p.Arg1379Gly, XP_047291840.1:p.Arg1379Gly, XP_047291846.1:p.Arg1309Gly, XP_047291850.1:p.Arg1424Gly

                                      19.

                                      rs1478210487 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:37179299 (GRCh38)
                                        17:35536240 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:37179298:A:G
                                        Gene:
                                        ACACA (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000047/1 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.37179299A>G, NG_023295.2:g.232513T>C, NM_198839.3:c.4929T>C, NM_198839.2:c.4929T>C, NM_198839.1:c.4929T>C, NM_198834.3:c.5040T>C, NM_198834.2:c.5040T>C, NM_198834.1:c.5040T>C, NM_198836.3:c.4929T>C, NM_198836.2:c.4929T>C, NM_198836.1:c.4929T>C, NM_198838.2:c.4695T>C, NM_198838.1:c.4695T>C, NM_198837.2:c.4755T>C, NM_198837.1:c.4755T>C, NT_187614.1:g.1415305A>G, NC_000017.10:g.35536240A>G, XM_005257267.6:c.4695T>C, XM_005257267.5:c.4695T>C, XM_005257267.4:c.4695T>C, XM_005257267.3:c.4695T>C, XM_005257267.2:c.4695T>C, XM_005257267.1:c.4695T>C, XM_011524704.3:c.4695T>C, XM_011524704.2:c.4695T>C, XM_011524704.1:c.4695T>C, NM_000664.3:c.*4806T>C, XM_006721853.2:c.5016T>C, XM_006721853.1:c.5016T>C, NM_000664.2:c.4929T>C, XM_011524701.2:c.4950T>C, XM_011524701.1:c.4950T>C, XM_047435879.1:c.4929T>C, XM_047435881.1:c.4929T>C, XM_047435883.1:c.4929T>C, XM_047435889.1:c.4752T>C, XM_047435886.1:c.4755T>C, XM_047435893.1:c.4671T>C, XM_047435891.1:c.4671T>C, XM_047435892.1:c.4671T>C, XM_047435888.1:c.4752T>C, NM_000664.1:c.4929T>C, XM_047435882.1:c.4929T>C, NM_198835.1:c.*4806T>C, XM_047435880.1:c.4929T>C, XM_047435878.1:c.4929T>C, XM_011524703.1:c.4929T>C, XM_047435885.1:c.4905T>C, XM_047435884.1:c.4905T>C, XM_047435890.1:c.4695T>C, XM_047435894.1:c.5040T>C

                                        20.

                                        rs1478106922 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:37111612 (GRCh38)
                                          17:35468547 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:37111611:C:T
                                          Gene:
                                          ACACA (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.37111612C>T, NG_023295.2:g.300200G>A, NM_198839.3:c.6373G>A, NM_198839.2:c.6373G>A, NM_198839.1:c.6373G>A, NM_198834.3:c.6484G>A, NM_198834.2:c.6484G>A, NM_198834.1:c.6484G>A, NM_198836.3:c.6373G>A, NM_198836.2:c.6373G>A, NM_198836.1:c.6373G>A, NM_198838.2:c.6139G>A, NM_198838.1:c.6139G>A, NM_198837.2:c.6199G>A, NM_198837.1:c.6199G>A, NT_187614.1:g.1347612C>T, NC_000017.10:g.35468547C>T, XM_005257267.6:c.6139G>A, XM_005257267.5:c.6139G>A, XM_005257267.4:c.6139G>A, XM_005257267.3:c.6139G>A, XM_005257267.2:c.6139G>A, XM_005257267.1:c.6139G>A, XM_011524704.3:c.6139G>A, XM_011524704.2:c.6139G>A, XM_011524704.1:c.6139G>A, NM_000664.3:c.*6250G>A, XM_006721853.2:c.6460G>A, XM_006721853.1:c.6460G>A, XM_011524701.2:c.6394G>A, XM_011524701.1:c.6394G>A, NM_000664.2:c.6373G>A, XM_047435880.1:c.6373G>A, XM_047435879.1:c.6373G>A, XM_047435882.1:c.6373G>A, XM_047435881.1:c.6373G>A, XM_047435883.1:c.6373G>A, XM_047435889.1:c.6196G>A, XM_047435886.1:c.6199G>A, XM_011524703.1:c.6373G>A, XM_047435885.1:c.6349G>A, XM_047435884.1:c.6349G>A, XM_047435890.1:c.6139G>A, XM_047435893.1:c.6115G>A, XM_047435891.1:c.6115G>A, XM_047435892.1:c.6115G>A, XM_047435888.1:c.6196G>A, NM_000664.1:c.6373G>A, XM_047435878.1:c.6373G>A, NM_198835.1:c.*6250G>A, NP_942136.1:p.Glu2125Lys, NP_942131.1:p.Glu2162Lys, NP_942133.1:p.Glu2125Lys, NP_942135.1:p.Glu2047Lys, NP_942134.1:p.Glu2067Lys, XP_005257324.1:p.Glu2047Lys, XP_011523006.1:p.Glu2047Lys, XP_006721916.1:p.Glu2154Lys, XP_011523003.1:p.Glu2132Lys, XP_047291836.1:p.Glu2125Lys, XP_047291835.1:p.Glu2125Lys, XP_047291838.1:p.Glu2125Lys, XP_047291837.1:p.Glu2125Lys, XP_047291839.1:p.Glu2125Lys, XP_047291845.1:p.Glu2066Lys, XP_047291842.1:p.Glu2067Lys, XP_011523005.1:p.Glu2125Lys, XP_047291841.1:p.Glu2117Lys, XP_047291840.1:p.Glu2117Lys, XP_047291846.1:p.Glu2047Lys, XP_047291849.1:p.Glu2039Lys, XP_047291847.1:p.Glu2039Lys, XP_047291848.1:p.Glu2039Lys, XP_047291844.1:p.Glu2066Lys, XP_047291834.1:p.Glu2125Lys

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