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Items: 1 to 20 of 2649

1.

rs1490852702 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:121691740 (GRCh38)
    3:121410587 (GRCh37)
    Canonical SPDI:
    NC_000003.12:121691739:T:C
    Gene:
    GOLGB1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.121691740T>C, NC_000003.11:g.121410587T>C, XM_005247371.5:c.7624A>G, XM_005247371.4:c.7624A>G, XM_005247371.3:c.7624A>G, XM_005247371.2:c.7624A>G, XM_005247371.1:c.7624A>G, NM_004487.5:c.7609A>G, NM_004487.4:c.7609A>G, XM_011512699.4:c.7624A>G, XM_011512699.3:c.7624A>G, XM_011512699.2:c.7624A>G, XM_011512699.1:c.7624A>G, XM_006713588.3:c.7609A>G, XM_006713588.2:c.7609A>G, XM_006713588.1:c.7609A>G, XM_006713589.3:c.7606A>G, XM_006713589.2:c.7606A>G, XM_006713589.1:c.7606A>G, XM_005247373.3:c.7501A>G, XM_005247373.2:c.7501A>G, XM_005247373.1:c.7501A>G, XM_006713591.3:c.7384A>G, XM_006713591.2:c.7384A>G, XM_006713591.1:c.7384A>G, XM_017006189.2:c.7609A>G, XM_017006189.1:c.7609A>G, XM_017006190.2:c.7606A>G, XM_017006190.1:c.7606A>G, XM_017006191.2:c.7501A>G, XM_017006191.1:c.7501A>G, NM_001256487.2:c.7507A>G, NM_001256487.1:c.7507A>G, NM_001256486.2:c.7624A>G, NM_001256486.1:c.7624A>G, NM_001366282.2:c.7624A>G, NM_001366282.1:c.7624A>G, NM_001366284.2:c.7384A>G, NM_001366284.1:c.7384A>G, XM_017006195.2:c.6865A>G, XM_017006195.1:c.6865A>G, NM_001256488.2:c.7384A>G, NM_001256488.1:c.7384A>G, NM_001366283.2:c.7501A>G, NM_001366283.1:c.7501A>G, XM_047447987.1:c.7624A>G, XM_047447993.1:c.7384A>G, NM_001389631.1:c.7489A>G, XM_047447988.1:c.7609A>G, XM_047447989.1:c.7606A>G, XM_047447990.1:c.7606A>G, XM_047447991.1:c.7507A>G, XM_047447992.1:c.7501A>G, XM_047447994.1:c.7384A>G, XM_047447995.1:c.7384A>G, XM_047447996.1:c.7624A>G, XP_005247428.1:p.Arg2542Gly, NP_004478.3:p.Arg2537Gly, XP_011511001.1:p.Arg2542Gly, XP_006713651.1:p.Arg2537Gly, XP_006713652.1:p.Arg2536Gly, XP_005247430.1:p.Arg2501Gly, XP_006713654.1:p.Arg2462Gly, XP_016861678.1:p.Arg2537Gly, XP_016861679.1:p.Arg2536Gly, XP_016861680.1:p.Arg2501Gly, NP_001243416.1:p.Arg2503Gly, NP_001243415.1:p.Arg2542Gly, NP_001353211.1:p.Arg2542Gly, NP_001353213.1:p.Arg2462Gly, XP_016861684.1:p.Arg2289Gly, NP_001243417.1:p.Arg2462Gly, NP_001353212.1:p.Arg2501Gly, XP_047303943.1:p.Arg2542Gly, XP_047303949.1:p.Arg2462Gly, NP_001376560.1:p.Arg2497Gly, XP_047303944.1:p.Arg2537Gly, XP_047303945.1:p.Arg2536Gly, XP_047303946.1:p.Arg2536Gly, XP_047303947.1:p.Arg2503Gly, XP_047303948.1:p.Arg2501Gly, XP_047303950.1:p.Arg2462Gly, XP_047303951.1:p.Arg2462Gly, XP_047303952.1:p.Arg2542Gly

    2.

    rs1490652747 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:121716971 (GRCh38)
      3:121435818 (GRCh37)
      Canonical SPDI:
      NC_000003.12:121716970:C:T
      Gene:
      GOLGB1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.121716971C>T, NC_000003.11:g.121435818C>T, XM_005247371.5:c.1054G>A, XM_005247371.4:c.1054G>A, XM_005247371.3:c.1054G>A, XM_005247371.2:c.1054G>A, XM_005247371.1:c.1054G>A, NM_004487.5:c.1039G>A, NM_004487.4:c.1039G>A, XM_011512699.4:c.1054G>A, XM_011512699.3:c.1054G>A, XM_011512699.2:c.1054G>A, XM_011512699.1:c.1054G>A, XM_006713588.3:c.1039G>A, XM_006713588.2:c.1039G>A, XM_006713588.1:c.1039G>A, XM_006713589.3:c.1036G>A, XM_006713589.2:c.1036G>A, XM_006713589.1:c.1036G>A, XM_005247373.3:c.931G>A, XM_005247373.2:c.931G>A, XM_005247373.1:c.931G>A, XM_006713591.3:c.814G>A, XM_006713591.2:c.814G>A, XM_006713591.1:c.814G>A, XM_017006189.2:c.1039G>A, XM_017006189.1:c.1039G>A, XM_017006190.2:c.1036G>A, XM_017006190.1:c.1036G>A, XM_017006191.2:c.931G>A, XM_017006191.1:c.931G>A, NM_001256487.2:c.937G>A, NM_001256487.1:c.937G>A, NM_001256486.2:c.1054G>A, NM_001256486.1:c.1054G>A, NM_001366282.2:c.1054G>A, NM_001366282.1:c.1054G>A, NM_001366284.2:c.814G>A, NM_001366284.1:c.814G>A, XM_017006195.2:c.295G>A, XM_017006195.1:c.295G>A, NM_001256488.2:c.814G>A, NM_001256488.1:c.814G>A, NM_001366283.2:c.931G>A, NM_001366283.1:c.931G>A, XM_047447987.1:c.1054G>A, XM_047447993.1:c.814G>A, NM_001389631.1:c.919G>A, XM_047447988.1:c.1039G>A, XM_047447989.1:c.1036G>A, XM_047447990.1:c.1036G>A, XM_047447991.1:c.937G>A, XM_047447992.1:c.931G>A, XM_047447994.1:c.814G>A, XM_047447995.1:c.814G>A, XM_047447996.1:c.1054G>A, XP_005247428.1:p.Glu352Lys, NP_004478.3:p.Glu347Lys, XP_011511001.1:p.Glu352Lys, XP_006713651.1:p.Glu347Lys, XP_006713652.1:p.Glu346Lys, XP_005247430.1:p.Glu311Lys, XP_006713654.1:p.Glu272Lys, XP_016861678.1:p.Glu347Lys, XP_016861679.1:p.Glu346Lys, XP_016861680.1:p.Glu311Lys, NP_001243416.1:p.Glu313Lys, NP_001243415.1:p.Glu352Lys, NP_001353211.1:p.Glu352Lys, NP_001353213.1:p.Glu272Lys, XP_016861684.1:p.Glu99Lys, NP_001243417.1:p.Glu272Lys, NP_001353212.1:p.Glu311Lys, XP_047303943.1:p.Glu352Lys, XP_047303949.1:p.Glu272Lys, NP_001376560.1:p.Glu307Lys, XP_047303944.1:p.Glu347Lys, XP_047303945.1:p.Glu346Lys, XP_047303946.1:p.Glu346Lys, XP_047303947.1:p.Glu313Lys, XP_047303948.1:p.Glu311Lys, XP_047303950.1:p.Glu272Lys, XP_047303951.1:p.Glu272Lys, XP_047303952.1:p.Glu352Lys

      3.

      rs1490373476 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        3:121692197 (GRCh38)
        3:121411044 (GRCh37)
        Canonical SPDI:
        NC_000003.12:121692196:A:C
        Gene:
        GOLGB1 (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=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000003.12:g.121692197A>C, NC_000003.11:g.121411044A>C, XM_005247371.5:c.7167T>G, XM_005247371.4:c.7167T>G, XM_005247371.3:c.7167T>G, XM_005247371.2:c.7167T>G, XM_005247371.1:c.7167T>G, NM_004487.5:c.7152T>G, NM_004487.4:c.7152T>G, XM_011512699.4:c.7167T>G, XM_011512699.3:c.7167T>G, XM_011512699.2:c.7167T>G, XM_011512699.1:c.7167T>G, XM_006713588.3:c.7152T>G, XM_006713588.2:c.7152T>G, XM_006713588.1:c.7152T>G, XM_006713589.3:c.7149T>G, XM_006713589.2:c.7149T>G, XM_006713589.1:c.7149T>G, XM_005247373.3:c.7044T>G, XM_005247373.2:c.7044T>G, XM_005247373.1:c.7044T>G, XM_006713591.3:c.6927T>G, XM_006713591.2:c.6927T>G, XM_006713591.1:c.6927T>G, XM_017006189.2:c.7152T>G, XM_017006189.1:c.7152T>G, XM_017006190.2:c.7149T>G, XM_017006190.1:c.7149T>G, XM_017006191.2:c.7044T>G, XM_017006191.1:c.7044T>G, NM_001256487.2:c.7050T>G, NM_001256487.1:c.7050T>G, NM_001256486.2:c.7167T>G, NM_001256486.1:c.7167T>G, NM_001366282.2:c.7167T>G, NM_001366282.1:c.7167T>G, NM_001366284.2:c.6927T>G, NM_001366284.1:c.6927T>G, XM_017006195.2:c.6408T>G, XM_017006195.1:c.6408T>G, NM_001256488.2:c.6927T>G, NM_001256488.1:c.6927T>G, NM_001366283.2:c.7044T>G, NM_001366283.1:c.7044T>G, XM_047447987.1:c.7167T>G, XM_047447993.1:c.6927T>G, NM_001389631.1:c.7032T>G, XM_047447988.1:c.7152T>G, XM_047447989.1:c.7149T>G, XM_047447990.1:c.7149T>G, XM_047447991.1:c.7050T>G, XM_047447992.1:c.7044T>G, XM_047447994.1:c.6927T>G, XM_047447995.1:c.6927T>G, XM_047447996.1:c.7167T>G, XP_005247428.1:p.Ile2389Met, NP_004478.3:p.Ile2384Met, XP_011511001.1:p.Ile2389Met, XP_006713651.1:p.Ile2384Met, XP_006713652.1:p.Ile2383Met, XP_005247430.1:p.Ile2348Met, XP_006713654.1:p.Ile2309Met, XP_016861678.1:p.Ile2384Met, XP_016861679.1:p.Ile2383Met, XP_016861680.1:p.Ile2348Met, NP_001243416.1:p.Ile2350Met, NP_001243415.1:p.Ile2389Met, NP_001353211.1:p.Ile2389Met, NP_001353213.1:p.Ile2309Met, XP_016861684.1:p.Ile2136Met, NP_001243417.1:p.Ile2309Met, NP_001353212.1:p.Ile2348Met, XP_047303943.1:p.Ile2389Met, XP_047303949.1:p.Ile2309Met, NP_001376560.1:p.Ile2344Met, XP_047303944.1:p.Ile2384Met, XP_047303945.1:p.Ile2383Met, XP_047303946.1:p.Ile2383Met, XP_047303947.1:p.Ile2350Met, XP_047303948.1:p.Ile2348Met, XP_047303950.1:p.Ile2309Met, XP_047303951.1:p.Ile2309Met, XP_047303952.1:p.Ile2389Met

        4.

        rs1490368052 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:121691314 (GRCh38)
          3:121410161 (GRCh37)
          Canonical SPDI:
          NC_000003.12:121691313:T:C
          Gene:
          GOLGB1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.121691314T>C, NC_000003.11:g.121410161T>C, XM_005247371.5:c.8050A>G, XM_005247371.4:c.8050A>G, XM_005247371.3:c.8050A>G, XM_005247371.2:c.8050A>G, XM_005247371.1:c.8050A>G, NM_004487.5:c.8035A>G, NM_004487.4:c.8035A>G, XM_011512699.4:c.8050A>G, XM_011512699.3:c.8050A>G, XM_011512699.2:c.8050A>G, XM_011512699.1:c.8050A>G, XM_006713588.3:c.8035A>G, XM_006713588.2:c.8035A>G, XM_006713588.1:c.8035A>G, XM_006713589.3:c.8032A>G, XM_006713589.2:c.8032A>G, XM_006713589.1:c.8032A>G, XM_005247373.3:c.7927A>G, XM_005247373.2:c.7927A>G, XM_005247373.1:c.7927A>G, XM_006713591.3:c.7810A>G, XM_006713591.2:c.7810A>G, XM_006713591.1:c.7810A>G, XM_017006189.2:c.8035A>G, XM_017006189.1:c.8035A>G, XM_017006190.2:c.8032A>G, XM_017006190.1:c.8032A>G, XM_017006191.2:c.7927A>G, XM_017006191.1:c.7927A>G, NM_001256487.2:c.7933A>G, NM_001256487.1:c.7933A>G, NM_001256486.2:c.8050A>G, NM_001256486.1:c.8050A>G, NM_001366282.2:c.8050A>G, NM_001366282.1:c.8050A>G, NM_001366284.2:c.7810A>G, NM_001366284.1:c.7810A>G, XM_017006195.2:c.7291A>G, XM_017006195.1:c.7291A>G, NM_001256488.2:c.7810A>G, NM_001256488.1:c.7810A>G, NM_001366283.2:c.7927A>G, NM_001366283.1:c.7927A>G, XM_047447987.1:c.8050A>G, XM_047447993.1:c.7810A>G, NM_001389631.1:c.7915A>G, XM_047447988.1:c.8035A>G, XM_047447989.1:c.8032A>G, XM_047447990.1:c.8032A>G, XM_047447991.1:c.7933A>G, XM_047447992.1:c.7927A>G, XM_047447994.1:c.7810A>G, XM_047447995.1:c.7810A>G, XM_047447996.1:c.8050A>G, XP_005247428.1:p.Lys2684Glu, NP_004478.3:p.Lys2679Glu, XP_011511001.1:p.Lys2684Glu, XP_006713651.1:p.Lys2679Glu, XP_006713652.1:p.Lys2678Glu, XP_005247430.1:p.Lys2643Glu, XP_006713654.1:p.Lys2604Glu, XP_016861678.1:p.Lys2679Glu, XP_016861679.1:p.Lys2678Glu, XP_016861680.1:p.Lys2643Glu, NP_001243416.1:p.Lys2645Glu, NP_001243415.1:p.Lys2684Glu, NP_001353211.1:p.Lys2684Glu, NP_001353213.1:p.Lys2604Glu, XP_016861684.1:p.Lys2431Glu, NP_001243417.1:p.Lys2604Glu, NP_001353212.1:p.Lys2643Glu, XP_047303943.1:p.Lys2684Glu, XP_047303949.1:p.Lys2604Glu, NP_001376560.1:p.Lys2639Glu, XP_047303944.1:p.Lys2679Glu, XP_047303945.1:p.Lys2678Glu, XP_047303946.1:p.Lys2678Glu, XP_047303947.1:p.Lys2645Glu, XP_047303948.1:p.Lys2643Glu, XP_047303950.1:p.Lys2604Glu, XP_047303951.1:p.Lys2604Glu, XP_047303952.1:p.Lys2684Glu

          5.

          rs1490292910 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:121722280 (GRCh38)
            3:121441127 (GRCh37)
            Canonical SPDI:
            NC_000003.12:121722279:C:T
            Gene:
            GOLGB1 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.121722280C>T, NC_000003.11:g.121441127C>T, XM_005247371.5:c.630G>A, XM_005247371.4:c.630G>A, XM_005247371.3:c.630G>A, XM_005247371.2:c.630G>A, XM_005247371.1:c.630G>A, NM_004487.5:c.630G>A, NM_004487.4:c.630G>A, XM_011512699.4:c.630G>A, XM_011512699.3:c.630G>A, XM_011512699.2:c.630G>A, XM_011512699.1:c.630G>A, XM_006713588.3:c.630G>A, XM_006713588.2:c.630G>A, XM_006713588.1:c.630G>A, XM_006713589.3:c.630G>A, XM_006713589.2:c.630G>A, XM_006713589.1:c.630G>A, XM_005247373.3:c.630G>A, XM_005247373.2:c.630G>A, XM_005247373.1:c.630G>A, XM_017006189.2:c.630G>A, XM_017006189.1:c.630G>A, XM_017006190.2:c.630G>A, XM_017006190.1:c.630G>A, XM_017006191.2:c.630G>A, XM_017006191.1:c.630G>A, NM_001256487.2:c.513G>A, NM_001256487.1:c.513G>A, NM_001256486.2:c.630G>A, NM_001256486.1:c.630G>A, NM_001366282.2:c.630G>A, NM_001366282.1:c.630G>A, NM_001366284.2:c.513G>A, NM_001366284.1:c.513G>A, NM_001256488.2:c.513G>A, NM_001256488.1:c.513G>A, NM_001366283.2:c.630G>A, NM_001366283.1:c.630G>A, XM_047447987.1:c.630G>A, NM_001389631.1:c.513G>A, XM_047447988.1:c.630G>A, XM_047447989.1:c.630G>A, XM_047447990.1:c.630G>A, XM_047447991.1:c.513G>A, XM_047447992.1:c.630G>A, XM_047447996.1:c.630G>A

            6.

            rs1490059194 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              3:121694066 (GRCh38)
              3:121412913 (GRCh37)
              Canonical SPDI:
              NC_000003.12:121694065:A:C
              Gene:
              GOLGB1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.121694066A>C, NC_000003.11:g.121412913A>C, XM_005247371.5:c.6457T>G, XM_005247371.4:c.6457T>G, XM_005247371.3:c.6457T>G, XM_005247371.2:c.6457T>G, XM_005247371.1:c.6457T>G, NM_004487.5:c.6442T>G, NM_004487.4:c.6442T>G, XM_011512699.4:c.6457T>G, XM_011512699.3:c.6457T>G, XM_011512699.2:c.6457T>G, XM_011512699.1:c.6457T>G, XM_006713588.3:c.6442T>G, XM_006713588.2:c.6442T>G, XM_006713588.1:c.6442T>G, XM_006713589.3:c.6439T>G, XM_006713589.2:c.6439T>G, XM_006713589.1:c.6439T>G, XM_005247373.3:c.6334T>G, XM_005247373.2:c.6334T>G, XM_005247373.1:c.6334T>G, XM_006713591.3:c.6217T>G, XM_006713591.2:c.6217T>G, XM_006713591.1:c.6217T>G, XM_017006189.2:c.6442T>G, XM_017006189.1:c.6442T>G, XM_017006190.2:c.6439T>G, XM_017006190.1:c.6439T>G, XM_017006191.2:c.6334T>G, XM_017006191.1:c.6334T>G, NM_001256487.2:c.6340T>G, NM_001256487.1:c.6340T>G, NM_001256486.2:c.6457T>G, NM_001256486.1:c.6457T>G, NM_001366282.2:c.6457T>G, NM_001366282.1:c.6457T>G, NM_001366284.2:c.6217T>G, NM_001366284.1:c.6217T>G, XM_017006195.2:c.5698T>G, XM_017006195.1:c.5698T>G, NM_001256488.2:c.6217T>G, NM_001256488.1:c.6217T>G, NM_001366283.2:c.6334T>G, NM_001366283.1:c.6334T>G, XM_047447987.1:c.6457T>G, XM_047447993.1:c.6217T>G, NM_001389631.1:c.6322T>G, XM_047447988.1:c.6442T>G, XM_047447989.1:c.6439T>G, XM_047447990.1:c.6439T>G, XM_047447991.1:c.6340T>G, XM_047447992.1:c.6334T>G, XM_047447994.1:c.6217T>G, XM_047447995.1:c.6217T>G, XM_047447996.1:c.6457T>G, XP_005247428.1:p.Leu2153Val, NP_004478.3:p.Leu2148Val, XP_011511001.1:p.Leu2153Val, XP_006713651.1:p.Leu2148Val, XP_006713652.1:p.Leu2147Val, XP_005247430.1:p.Leu2112Val, XP_006713654.1:p.Leu2073Val, XP_016861678.1:p.Leu2148Val, XP_016861679.1:p.Leu2147Val, XP_016861680.1:p.Leu2112Val, NP_001243416.1:p.Leu2114Val, NP_001243415.1:p.Leu2153Val, NP_001353211.1:p.Leu2153Val, NP_001353213.1:p.Leu2073Val, XP_016861684.1:p.Leu1900Val, NP_001243417.1:p.Leu2073Val, NP_001353212.1:p.Leu2112Val, XP_047303943.1:p.Leu2153Val, XP_047303949.1:p.Leu2073Val, NP_001376560.1:p.Leu2108Val, XP_047303944.1:p.Leu2148Val, XP_047303945.1:p.Leu2147Val, XP_047303946.1:p.Leu2147Val, XP_047303947.1:p.Leu2114Val, XP_047303948.1:p.Leu2112Val, XP_047303950.1:p.Leu2073Val, XP_047303951.1:p.Leu2073Val, XP_047303952.1:p.Leu2153Val

              7.

              rs1489711586 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                3:121695506 (GRCh38)
                3:121414353 (GRCh37)
                Canonical SPDI:
                NC_000003.12:121695505:C:T
                Gene:
                GOLGB1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.121695506C>T, NC_000003.11:g.121414353C>T, XM_005247371.5:c.5017G>A, XM_005247371.4:c.5017G>A, XM_005247371.3:c.5017G>A, XM_005247371.2:c.5017G>A, XM_005247371.1:c.5017G>A, NM_004487.5:c.5002G>A, NM_004487.4:c.5002G>A, XM_011512699.4:c.5017G>A, XM_011512699.3:c.5017G>A, XM_011512699.2:c.5017G>A, XM_011512699.1:c.5017G>A, XM_006713588.3:c.5002G>A, XM_006713588.2:c.5002G>A, XM_006713588.1:c.5002G>A, XM_006713589.3:c.4999G>A, XM_006713589.2:c.4999G>A, XM_006713589.1:c.4999G>A, XM_005247373.3:c.4894G>A, XM_005247373.2:c.4894G>A, XM_005247373.1:c.4894G>A, XM_006713591.3:c.4777G>A, XM_006713591.2:c.4777G>A, XM_006713591.1:c.4777G>A, XM_017006189.2:c.5002G>A, XM_017006189.1:c.5002G>A, XM_017006190.2:c.4999G>A, XM_017006190.1:c.4999G>A, XM_017006191.2:c.4894G>A, XM_017006191.1:c.4894G>A, NM_001256487.2:c.4900G>A, NM_001256487.1:c.4900G>A, NM_001256486.2:c.5017G>A, NM_001256486.1:c.5017G>A, NM_001366282.2:c.5017G>A, NM_001366282.1:c.5017G>A, NM_001366284.2:c.4777G>A, NM_001366284.1:c.4777G>A, XM_017006195.2:c.4258G>A, XM_017006195.1:c.4258G>A, NM_001256488.2:c.4777G>A, NM_001256488.1:c.4777G>A, NM_001366283.2:c.4894G>A, NM_001366283.1:c.4894G>A, XM_047447987.1:c.5017G>A, XM_047447993.1:c.4777G>A, NM_001389631.1:c.4882G>A, XM_047447988.1:c.5002G>A, XM_047447989.1:c.4999G>A, XM_047447990.1:c.4999G>A, XM_047447991.1:c.4900G>A, XM_047447992.1:c.4894G>A, XM_047447994.1:c.4777G>A, XM_047447995.1:c.4777G>A, XM_047447996.1:c.5017G>A, XP_005247428.1:p.Glu1673Lys, NP_004478.3:p.Glu1668Lys, XP_011511001.1:p.Glu1673Lys, XP_006713651.1:p.Glu1668Lys, XP_006713652.1:p.Glu1667Lys, XP_005247430.1:p.Glu1632Lys, XP_006713654.1:p.Glu1593Lys, XP_016861678.1:p.Glu1668Lys, XP_016861679.1:p.Glu1667Lys, XP_016861680.1:p.Glu1632Lys, NP_001243416.1:p.Glu1634Lys, NP_001243415.1:p.Glu1673Lys, NP_001353211.1:p.Glu1673Lys, NP_001353213.1:p.Glu1593Lys, XP_016861684.1:p.Glu1420Lys, NP_001243417.1:p.Glu1593Lys, NP_001353212.1:p.Glu1632Lys, XP_047303943.1:p.Glu1673Lys, XP_047303949.1:p.Glu1593Lys, NP_001376560.1:p.Glu1628Lys, XP_047303944.1:p.Glu1668Lys, XP_047303945.1:p.Glu1667Lys, XP_047303946.1:p.Glu1667Lys, XP_047303947.1:p.Glu1634Lys, XP_047303948.1:p.Glu1632Lys, XP_047303950.1:p.Glu1593Lys, XP_047303951.1:p.Glu1593Lys, XP_047303952.1:p.Glu1673Lys

                8.

                rs1489505402 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  3:121694090 (GRCh38)
                  3:121412937 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:121694089:T:A
                  Gene:
                  GOLGB1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000003.12:g.121694090T>A, NC_000003.11:g.121412937T>A, XM_005247371.5:c.6433A>T, XM_005247371.4:c.6433A>T, XM_005247371.3:c.6433A>T, XM_005247371.2:c.6433A>T, XM_005247371.1:c.6433A>T, NM_004487.5:c.6418A>T, NM_004487.4:c.6418A>T, XM_011512699.4:c.6433A>T, XM_011512699.3:c.6433A>T, XM_011512699.2:c.6433A>T, XM_011512699.1:c.6433A>T, XM_006713588.3:c.6418A>T, XM_006713588.2:c.6418A>T, XM_006713588.1:c.6418A>T, XM_006713589.3:c.6415A>T, XM_006713589.2:c.6415A>T, XM_006713589.1:c.6415A>T, XM_005247373.3:c.6310A>T, XM_005247373.2:c.6310A>T, XM_005247373.1:c.6310A>T, XM_006713591.3:c.6193A>T, XM_006713591.2:c.6193A>T, XM_006713591.1:c.6193A>T, XM_017006189.2:c.6418A>T, XM_017006189.1:c.6418A>T, XM_017006190.2:c.6415A>T, XM_017006190.1:c.6415A>T, XM_017006191.2:c.6310A>T, XM_017006191.1:c.6310A>T, NM_001256487.2:c.6316A>T, NM_001256487.1:c.6316A>T, NM_001256486.2:c.6433A>T, NM_001256486.1:c.6433A>T, NM_001366282.2:c.6433A>T, NM_001366282.1:c.6433A>T, NM_001366284.2:c.6193A>T, NM_001366284.1:c.6193A>T, XM_017006195.2:c.5674A>T, XM_017006195.1:c.5674A>T, NM_001256488.2:c.6193A>T, NM_001256488.1:c.6193A>T, NM_001366283.2:c.6310A>T, NM_001366283.1:c.6310A>T, XM_047447987.1:c.6433A>T, XM_047447993.1:c.6193A>T, NM_001389631.1:c.6298A>T, XM_047447988.1:c.6418A>T, XM_047447989.1:c.6415A>T, XM_047447990.1:c.6415A>T, XM_047447991.1:c.6316A>T, XM_047447992.1:c.6310A>T, XM_047447994.1:c.6193A>T, XM_047447995.1:c.6193A>T, XM_047447996.1:c.6433A>T, XP_005247428.1:p.Asn2145Tyr, NP_004478.3:p.Asn2140Tyr, XP_011511001.1:p.Asn2145Tyr, XP_006713651.1:p.Asn2140Tyr, XP_006713652.1:p.Asn2139Tyr, XP_005247430.1:p.Asn2104Tyr, XP_006713654.1:p.Asn2065Tyr, XP_016861678.1:p.Asn2140Tyr, XP_016861679.1:p.Asn2139Tyr, XP_016861680.1:p.Asn2104Tyr, NP_001243416.1:p.Asn2106Tyr, NP_001243415.1:p.Asn2145Tyr, NP_001353211.1:p.Asn2145Tyr, NP_001353213.1:p.Asn2065Tyr, XP_016861684.1:p.Asn1892Tyr, NP_001243417.1:p.Asn2065Tyr, NP_001353212.1:p.Asn2104Tyr, XP_047303943.1:p.Asn2145Tyr, XP_047303949.1:p.Asn2065Tyr, NP_001376560.1:p.Asn2100Tyr, XP_047303944.1:p.Asn2140Tyr, XP_047303945.1:p.Asn2139Tyr, XP_047303946.1:p.Asn2139Tyr, XP_047303947.1:p.Asn2106Tyr, XP_047303948.1:p.Asn2104Tyr, XP_047303950.1:p.Asn2065Tyr, XP_047303951.1:p.Asn2065Tyr, XP_047303952.1:p.Asn2145Tyr

                  9.

                  rs1489396616 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:121690798 (GRCh38)
                    3:121409645 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:121690797:C:T
                    Gene:
                    GOLGB1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.121690798C>T, NC_000003.11:g.121409645C>T, XM_005247371.5:c.8566G>A, XM_005247371.4:c.8566G>A, XM_005247371.3:c.8566G>A, XM_005247371.2:c.8566G>A, XM_005247371.1:c.8566G>A, NM_004487.5:c.8551G>A, NM_004487.4:c.8551G>A, XM_011512699.4:c.8566G>A, XM_011512699.3:c.8566G>A, XM_011512699.2:c.8566G>A, XM_011512699.1:c.8566G>A, XM_006713588.3:c.8551G>A, XM_006713588.2:c.8551G>A, XM_006713588.1:c.8551G>A, XM_006713589.3:c.8548G>A, XM_006713589.2:c.8548G>A, XM_006713589.1:c.8548G>A, XM_005247373.3:c.8443G>A, XM_005247373.2:c.8443G>A, XM_005247373.1:c.8443G>A, XM_006713591.3:c.8326G>A, XM_006713591.2:c.8326G>A, XM_006713591.1:c.8326G>A, XM_017006189.2:c.8551G>A, XM_017006189.1:c.8551G>A, XM_017006190.2:c.8548G>A, XM_017006190.1:c.8548G>A, XM_017006191.2:c.8443G>A, XM_017006191.1:c.8443G>A, NM_001256487.2:c.8449G>A, NM_001256487.1:c.8449G>A, NM_001256486.2:c.8566G>A, NM_001256486.1:c.8566G>A, NM_001366282.2:c.8566G>A, NM_001366282.1:c.8566G>A, NM_001366284.2:c.8326G>A, NM_001366284.1:c.8326G>A, XM_017006195.2:c.7807G>A, XM_017006195.1:c.7807G>A, NM_001256488.2:c.8326G>A, NM_001256488.1:c.8326G>A, NM_001366283.2:c.8443G>A, NM_001366283.1:c.8443G>A, XM_047447987.1:c.8566G>A, XM_047447993.1:c.8326G>A, NM_001389631.1:c.8431G>A, XM_047447988.1:c.8551G>A, XM_047447989.1:c.8548G>A, XM_047447990.1:c.8548G>A, XM_047447991.1:c.8449G>A, XM_047447992.1:c.8443G>A, XM_047447994.1:c.8326G>A, XM_047447995.1:c.8326G>A, XM_047447996.1:c.8566G>A, XP_005247428.1:p.Glu2856Lys, NP_004478.3:p.Glu2851Lys, XP_011511001.1:p.Glu2856Lys, XP_006713651.1:p.Glu2851Lys, XP_006713652.1:p.Glu2850Lys, XP_005247430.1:p.Glu2815Lys, XP_006713654.1:p.Glu2776Lys, XP_016861678.1:p.Glu2851Lys, XP_016861679.1:p.Glu2850Lys, XP_016861680.1:p.Glu2815Lys, NP_001243416.1:p.Glu2817Lys, NP_001243415.1:p.Glu2856Lys, NP_001353211.1:p.Glu2856Lys, NP_001353213.1:p.Glu2776Lys, XP_016861684.1:p.Glu2603Lys, NP_001243417.1:p.Glu2776Lys, NP_001353212.1:p.Glu2815Lys, XP_047303943.1:p.Glu2856Lys, XP_047303949.1:p.Glu2776Lys, NP_001376560.1:p.Glu2811Lys, XP_047303944.1:p.Glu2851Lys, XP_047303945.1:p.Glu2850Lys, XP_047303946.1:p.Glu2850Lys, XP_047303947.1:p.Glu2817Lys, XP_047303948.1:p.Glu2815Lys, XP_047303950.1:p.Glu2776Lys, XP_047303951.1:p.Glu2776Lys, XP_047303952.1:p.Glu2856Lys

                    10.

                    rs1487281206 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:121698470 (GRCh38)
                      3:121417317 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:121698469:G:A
                      Gene:
                      GOLGB1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000031/1 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000003.12:g.121698470G>A, NC_000003.11:g.121417317G>A, XM_005247371.5:c.2053C>T, XM_005247371.4:c.2053C>T, XM_005247371.3:c.2053C>T, XM_005247371.2:c.2053C>T, XM_005247371.1:c.2053C>T, NM_004487.5:c.2038C>T, NM_004487.4:c.2038C>T, XM_011512699.4:c.2053C>T, XM_011512699.3:c.2053C>T, XM_011512699.2:c.2053C>T, XM_011512699.1:c.2053C>T, XM_006713588.3:c.2038C>T, XM_006713588.2:c.2038C>T, XM_006713588.1:c.2038C>T, XM_006713589.3:c.2035C>T, XM_006713589.2:c.2035C>T, XM_006713589.1:c.2035C>T, XM_005247373.3:c.1930C>T, XM_005247373.2:c.1930C>T, XM_005247373.1:c.1930C>T, XM_006713591.3:c.1813C>T, XM_006713591.2:c.1813C>T, XM_006713591.1:c.1813C>T, XM_017006189.2:c.2038C>T, XM_017006189.1:c.2038C>T, XM_017006190.2:c.2035C>T, XM_017006190.1:c.2035C>T, XM_017006191.2:c.1930C>T, XM_017006191.1:c.1930C>T, NM_001256487.2:c.1936C>T, NM_001256487.1:c.1936C>T, NM_001256486.2:c.2053C>T, NM_001256486.1:c.2053C>T, NM_001366282.2:c.2053C>T, NM_001366282.1:c.2053C>T, NM_001366284.2:c.1813C>T, NM_001366284.1:c.1813C>T, XM_017006195.2:c.1294C>T, XM_017006195.1:c.1294C>T, NM_001256488.2:c.1813C>T, NM_001256488.1:c.1813C>T, NM_001366283.2:c.1930C>T, NM_001366283.1:c.1930C>T, XM_047447987.1:c.2053C>T, XM_047447993.1:c.1813C>T, NM_001389631.1:c.1918C>T, XM_047447988.1:c.2038C>T, XM_047447989.1:c.2035C>T, XM_047447990.1:c.2035C>T, XM_047447991.1:c.1936C>T, XM_047447992.1:c.1930C>T, XM_047447994.1:c.1813C>T, XM_047447995.1:c.1813C>T, XM_047447996.1:c.2053C>T, XP_005247428.1:p.Gln685Ter, NP_004478.3:p.Gln680Ter, XP_011511001.1:p.Gln685Ter, XP_006713651.1:p.Gln680Ter, XP_006713652.1:p.Gln679Ter, XP_005247430.1:p.Gln644Ter, XP_006713654.1:p.Gln605Ter, XP_016861678.1:p.Gln680Ter, XP_016861679.1:p.Gln679Ter, XP_016861680.1:p.Gln644Ter, NP_001243416.1:p.Gln646Ter, NP_001243415.1:p.Gln685Ter, NP_001353211.1:p.Gln685Ter, NP_001353213.1:p.Gln605Ter, XP_016861684.1:p.Gln432Ter, NP_001243417.1:p.Gln605Ter, NP_001353212.1:p.Gln644Ter, XP_047303943.1:p.Gln685Ter, XP_047303949.1:p.Gln605Ter, NP_001376560.1:p.Gln640Ter, XP_047303944.1:p.Gln680Ter, XP_047303945.1:p.Gln679Ter, XP_047303946.1:p.Gln679Ter, XP_047303947.1:p.Gln646Ter, XP_047303948.1:p.Gln644Ter, XP_047303950.1:p.Gln605Ter, XP_047303951.1:p.Gln605Ter, XP_047303952.1:p.Gln685Ter

                      11.

                      rs1486639797 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:121714862 (GRCh38)
                        3:121433709 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:121714861:T:C
                        Gene:
                        GOLGB1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.121714862T>C, NC_000003.11:g.121433709T>C, XM_005247371.5:c.1403A>G, XM_005247371.4:c.1403A>G, XM_005247371.3:c.1403A>G, XM_005247371.2:c.1403A>G, XM_005247371.1:c.1403A>G, NM_004487.5:c.1388A>G, NM_004487.4:c.1388A>G, XM_011512699.4:c.1403A>G, XM_011512699.3:c.1403A>G, XM_011512699.2:c.1403A>G, XM_011512699.1:c.1403A>G, XM_006713588.3:c.1388A>G, XM_006713588.2:c.1388A>G, XM_006713588.1:c.1388A>G, XM_006713589.3:c.1385A>G, XM_006713589.2:c.1385A>G, XM_006713589.1:c.1385A>G, XM_005247373.3:c.1280A>G, XM_005247373.2:c.1280A>G, XM_005247373.1:c.1280A>G, XM_006713591.3:c.1163A>G, XM_006713591.2:c.1163A>G, XM_006713591.1:c.1163A>G, XM_017006189.2:c.1388A>G, XM_017006189.1:c.1388A>G, XM_017006190.2:c.1385A>G, XM_017006190.1:c.1385A>G, XM_017006191.2:c.1280A>G, XM_017006191.1:c.1280A>G, NM_001256487.2:c.1286A>G, NM_001256487.1:c.1286A>G, NM_001256486.2:c.1403A>G, NM_001256486.1:c.1403A>G, NM_001366282.2:c.1403A>G, NM_001366282.1:c.1403A>G, NM_001366284.2:c.1163A>G, NM_001366284.1:c.1163A>G, XM_017006195.2:c.644A>G, XM_017006195.1:c.644A>G, NM_001256488.2:c.1163A>G, NM_001256488.1:c.1163A>G, NM_001366283.2:c.1280A>G, NM_001366283.1:c.1280A>G, XM_047447987.1:c.1403A>G, XM_047447993.1:c.1163A>G, NM_001389631.1:c.1268A>G, XM_047447988.1:c.1388A>G, XM_047447989.1:c.1385A>G, XM_047447990.1:c.1385A>G, XM_047447991.1:c.1286A>G, XM_047447992.1:c.1280A>G, XM_047447994.1:c.1163A>G, XM_047447995.1:c.1163A>G, XM_047447996.1:c.1403A>G, XP_005247428.1:p.Gln468Arg, NP_004478.3:p.Gln463Arg, XP_011511001.1:p.Gln468Arg, XP_006713651.1:p.Gln463Arg, XP_006713652.1:p.Gln462Arg, XP_005247430.1:p.Gln427Arg, XP_006713654.1:p.Gln388Arg, XP_016861678.1:p.Gln463Arg, XP_016861679.1:p.Gln462Arg, XP_016861680.1:p.Gln427Arg, NP_001243416.1:p.Gln429Arg, NP_001243415.1:p.Gln468Arg, NP_001353211.1:p.Gln468Arg, NP_001353213.1:p.Gln388Arg, XP_016861684.1:p.Gln215Arg, NP_001243417.1:p.Gln388Arg, NP_001353212.1:p.Gln427Arg, XP_047303943.1:p.Gln468Arg, XP_047303949.1:p.Gln388Arg, NP_001376560.1:p.Gln423Arg, XP_047303944.1:p.Gln463Arg, XP_047303945.1:p.Gln462Arg, XP_047303946.1:p.Gln462Arg, XP_047303947.1:p.Gln429Arg, XP_047303948.1:p.Gln427Arg, XP_047303950.1:p.Gln388Arg, XP_047303951.1:p.Gln388Arg, XP_047303952.1:p.Gln468Arg

                        12.

                        rs1486421160 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          3:121696487 (GRCh38)
                          3:121415334 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:121696486:G:C
                          Gene:
                          GOLGB1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0./0 (GnomAD)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.121696487G>C, NC_000003.11:g.121415334G>C, XM_005247371.5:c.4036C>G, XM_005247371.4:c.4036C>G, XM_005247371.3:c.4036C>G, XM_005247371.2:c.4036C>G, XM_005247371.1:c.4036C>G, NM_004487.5:c.4021C>G, NM_004487.4:c.4021C>G, XM_011512699.4:c.4036C>G, XM_011512699.3:c.4036C>G, XM_011512699.2:c.4036C>G, XM_011512699.1:c.4036C>G, XM_006713588.3:c.4021C>G, XM_006713588.2:c.4021C>G, XM_006713588.1:c.4021C>G, XM_006713589.3:c.4018C>G, XM_006713589.2:c.4018C>G, XM_006713589.1:c.4018C>G, XM_005247373.3:c.3913C>G, XM_005247373.2:c.3913C>G, XM_005247373.1:c.3913C>G, XM_006713591.3:c.3796C>G, XM_006713591.2:c.3796C>G, XM_006713591.1:c.3796C>G, XM_017006189.2:c.4021C>G, XM_017006189.1:c.4021C>G, XM_017006190.2:c.4018C>G, XM_017006190.1:c.4018C>G, XM_017006191.2:c.3913C>G, XM_017006191.1:c.3913C>G, NM_001256487.2:c.3919C>G, NM_001256487.1:c.3919C>G, NM_001256486.2:c.4036C>G, NM_001256486.1:c.4036C>G, NM_001366282.2:c.4036C>G, NM_001366282.1:c.4036C>G, NM_001366284.2:c.3796C>G, NM_001366284.1:c.3796C>G, XM_017006195.2:c.3277C>G, XM_017006195.1:c.3277C>G, NM_001256488.2:c.3796C>G, NM_001256488.1:c.3796C>G, NM_001366283.2:c.3913C>G, NM_001366283.1:c.3913C>G, XM_047447987.1:c.4036C>G, XM_047447993.1:c.3796C>G, NM_001389631.1:c.3901C>G, XM_047447988.1:c.4021C>G, XM_047447989.1:c.4018C>G, XM_047447990.1:c.4018C>G, XM_047447991.1:c.3919C>G, XM_047447992.1:c.3913C>G, XM_047447994.1:c.3796C>G, XM_047447995.1:c.3796C>G, XM_047447996.1:c.4036C>G, XP_005247428.1:p.Gln1346Glu, NP_004478.3:p.Gln1341Glu, XP_011511001.1:p.Gln1346Glu, XP_006713651.1:p.Gln1341Glu, XP_006713652.1:p.Gln1340Glu, XP_005247430.1:p.Gln1305Glu, XP_006713654.1:p.Gln1266Glu, XP_016861678.1:p.Gln1341Glu, XP_016861679.1:p.Gln1340Glu, XP_016861680.1:p.Gln1305Glu, NP_001243416.1:p.Gln1307Glu, NP_001243415.1:p.Gln1346Glu, NP_001353211.1:p.Gln1346Glu, NP_001353213.1:p.Gln1266Glu, XP_016861684.1:p.Gln1093Glu, NP_001243417.1:p.Gln1266Glu, NP_001353212.1:p.Gln1305Glu, XP_047303943.1:p.Gln1346Glu, XP_047303949.1:p.Gln1266Glu, NP_001376560.1:p.Gln1301Glu, XP_047303944.1:p.Gln1341Glu, XP_047303945.1:p.Gln1340Glu, XP_047303946.1:p.Gln1340Glu, XP_047303947.1:p.Gln1307Glu, XP_047303948.1:p.Gln1305Glu, XP_047303950.1:p.Gln1266Glu, XP_047303951.1:p.Gln1266Glu, XP_047303952.1:p.Gln1346Glu

                          13.

                          rs1486398468 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:121691562 (GRCh38)
                            3:121410409 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:121691561:T:C
                            Gene:
                            GOLGB1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000003.12:g.121691562T>C, NC_000003.11:g.121410409T>C, XM_005247371.5:c.7802A>G, XM_005247371.4:c.7802A>G, XM_005247371.3:c.7802A>G, XM_005247371.2:c.7802A>G, XM_005247371.1:c.7802A>G, NM_004487.5:c.7787A>G, NM_004487.4:c.7787A>G, XM_011512699.4:c.7802A>G, XM_011512699.3:c.7802A>G, XM_011512699.2:c.7802A>G, XM_011512699.1:c.7802A>G, XM_006713588.3:c.7787A>G, XM_006713588.2:c.7787A>G, XM_006713588.1:c.7787A>G, XM_006713589.3:c.7784A>G, XM_006713589.2:c.7784A>G, XM_006713589.1:c.7784A>G, XM_005247373.3:c.7679A>G, XM_005247373.2:c.7679A>G, XM_005247373.1:c.7679A>G, XM_006713591.3:c.7562A>G, XM_006713591.2:c.7562A>G, XM_006713591.1:c.7562A>G, XM_017006189.2:c.7787A>G, XM_017006189.1:c.7787A>G, XM_017006190.2:c.7784A>G, XM_017006190.1:c.7784A>G, XM_017006191.2:c.7679A>G, XM_017006191.1:c.7679A>G, NM_001256487.2:c.7685A>G, NM_001256487.1:c.7685A>G, NM_001256486.2:c.7802A>G, NM_001256486.1:c.7802A>G, NM_001366282.2:c.7802A>G, NM_001366282.1:c.7802A>G, NM_001366284.2:c.7562A>G, NM_001366284.1:c.7562A>G, XM_017006195.2:c.7043A>G, XM_017006195.1:c.7043A>G, NM_001256488.2:c.7562A>G, NM_001256488.1:c.7562A>G, NM_001366283.2:c.7679A>G, NM_001366283.1:c.7679A>G, XM_047447987.1:c.7802A>G, XM_047447993.1:c.7562A>G, NM_001389631.1:c.7667A>G, XM_047447988.1:c.7787A>G, XM_047447989.1:c.7784A>G, XM_047447990.1:c.7784A>G, XM_047447991.1:c.7685A>G, XM_047447992.1:c.7679A>G, XM_047447994.1:c.7562A>G, XM_047447995.1:c.7562A>G, XM_047447996.1:c.7802A>G, XP_005247428.1:p.Glu2601Gly, NP_004478.3:p.Glu2596Gly, XP_011511001.1:p.Glu2601Gly, XP_006713651.1:p.Glu2596Gly, XP_006713652.1:p.Glu2595Gly, XP_005247430.1:p.Glu2560Gly, XP_006713654.1:p.Glu2521Gly, XP_016861678.1:p.Glu2596Gly, XP_016861679.1:p.Glu2595Gly, XP_016861680.1:p.Glu2560Gly, NP_001243416.1:p.Glu2562Gly, NP_001243415.1:p.Glu2601Gly, NP_001353211.1:p.Glu2601Gly, NP_001353213.1:p.Glu2521Gly, XP_016861684.1:p.Glu2348Gly, NP_001243417.1:p.Glu2521Gly, NP_001353212.1:p.Glu2560Gly, XP_047303943.1:p.Glu2601Gly, XP_047303949.1:p.Glu2521Gly, NP_001376560.1:p.Glu2556Gly, XP_047303944.1:p.Glu2596Gly, XP_047303945.1:p.Glu2595Gly, XP_047303946.1:p.Glu2595Gly, XP_047303947.1:p.Glu2562Gly, XP_047303948.1:p.Glu2560Gly, XP_047303950.1:p.Glu2521Gly, XP_047303951.1:p.Glu2521Gly, XP_047303952.1:p.Glu2601Gly

                            14.

                            rs1486331236 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:121695385 (GRCh38)
                              3:121414232 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:121695384:T:C
                              Gene:
                              GOLGB1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.121695385T>C, NC_000003.11:g.121414232T>C, XM_005247371.5:c.5138A>G, XM_005247371.4:c.5138A>G, XM_005247371.3:c.5138A>G, XM_005247371.2:c.5138A>G, XM_005247371.1:c.5138A>G, NM_004487.5:c.5123A>G, NM_004487.4:c.5123A>G, XM_011512699.4:c.5138A>G, XM_011512699.3:c.5138A>G, XM_011512699.2:c.5138A>G, XM_011512699.1:c.5138A>G, XM_006713588.3:c.5123A>G, XM_006713588.2:c.5123A>G, XM_006713588.1:c.5123A>G, XM_006713589.3:c.5120A>G, XM_006713589.2:c.5120A>G, XM_006713589.1:c.5120A>G, XM_005247373.3:c.5015A>G, XM_005247373.2:c.5015A>G, XM_005247373.1:c.5015A>G, XM_006713591.3:c.4898A>G, XM_006713591.2:c.4898A>G, XM_006713591.1:c.4898A>G, XM_017006189.2:c.5123A>G, XM_017006189.1:c.5123A>G, XM_017006190.2:c.5120A>G, XM_017006190.1:c.5120A>G, XM_017006191.2:c.5015A>G, XM_017006191.1:c.5015A>G, NM_001256487.2:c.5021A>G, NM_001256487.1:c.5021A>G, NM_001256486.2:c.5138A>G, NM_001256486.1:c.5138A>G, NM_001366282.2:c.5138A>G, NM_001366282.1:c.5138A>G, NM_001366284.2:c.4898A>G, NM_001366284.1:c.4898A>G, XM_017006195.2:c.4379A>G, XM_017006195.1:c.4379A>G, NM_001256488.2:c.4898A>G, NM_001256488.1:c.4898A>G, NM_001366283.2:c.5015A>G, NM_001366283.1:c.5015A>G, XM_047447987.1:c.5138A>G, XM_047447993.1:c.4898A>G, NM_001389631.1:c.5003A>G, XM_047447988.1:c.5123A>G, XM_047447989.1:c.5120A>G, XM_047447990.1:c.5120A>G, XM_047447991.1:c.5021A>G, XM_047447992.1:c.5015A>G, XM_047447994.1:c.4898A>G, XM_047447995.1:c.4898A>G, XM_047447996.1:c.5138A>G, XP_005247428.1:p.Asp1713Gly, NP_004478.3:p.Asp1708Gly, XP_011511001.1:p.Asp1713Gly, XP_006713651.1:p.Asp1708Gly, XP_006713652.1:p.Asp1707Gly, XP_005247430.1:p.Asp1672Gly, XP_006713654.1:p.Asp1633Gly, XP_016861678.1:p.Asp1708Gly, XP_016861679.1:p.Asp1707Gly, XP_016861680.1:p.Asp1672Gly, NP_001243416.1:p.Asp1674Gly, NP_001243415.1:p.Asp1713Gly, NP_001353211.1:p.Asp1713Gly, NP_001353213.1:p.Asp1633Gly, XP_016861684.1:p.Asp1460Gly, NP_001243417.1:p.Asp1633Gly, NP_001353212.1:p.Asp1672Gly, XP_047303943.1:p.Asp1713Gly, XP_047303949.1:p.Asp1633Gly, NP_001376560.1:p.Asp1668Gly, XP_047303944.1:p.Asp1708Gly, XP_047303945.1:p.Asp1707Gly, XP_047303946.1:p.Asp1707Gly, XP_047303947.1:p.Asp1674Gly, XP_047303948.1:p.Asp1672Gly, XP_047303950.1:p.Asp1633Gly, XP_047303951.1:p.Asp1633Gly, XP_047303952.1:p.Asp1713Gly

                              15.

                              rs1486076951 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                3:121695077 (GRCh38)
                                3:121413924 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:121695076:A:G
                                Gene:
                                GOLGB1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000003.12:g.121695077A>G, NC_000003.11:g.121413924A>G, XM_005247371.5:c.5446T>C, XM_005247371.4:c.5446T>C, XM_005247371.3:c.5446T>C, XM_005247371.2:c.5446T>C, XM_005247371.1:c.5446T>C, NM_004487.5:c.5431T>C, NM_004487.4:c.5431T>C, XM_011512699.4:c.5446T>C, XM_011512699.3:c.5446T>C, XM_011512699.2:c.5446T>C, XM_011512699.1:c.5446T>C, XM_006713588.3:c.5431T>C, XM_006713588.2:c.5431T>C, XM_006713588.1:c.5431T>C, XM_006713589.3:c.5428T>C, XM_006713589.2:c.5428T>C, XM_006713589.1:c.5428T>C, XM_005247373.3:c.5323T>C, XM_005247373.2:c.5323T>C, XM_005247373.1:c.5323T>C, XM_006713591.3:c.5206T>C, XM_006713591.2:c.5206T>C, XM_006713591.1:c.5206T>C, XM_017006189.2:c.5431T>C, XM_017006189.1:c.5431T>C, XM_017006190.2:c.5428T>C, XM_017006190.1:c.5428T>C, XM_017006191.2:c.5323T>C, XM_017006191.1:c.5323T>C, NM_001256487.2:c.5329T>C, NM_001256487.1:c.5329T>C, NM_001256486.2:c.5446T>C, NM_001256486.1:c.5446T>C, NM_001366282.2:c.5446T>C, NM_001366282.1:c.5446T>C, NM_001366284.2:c.5206T>C, NM_001366284.1:c.5206T>C, XM_017006195.2:c.4687T>C, XM_017006195.1:c.4687T>C, NM_001256488.2:c.5206T>C, NM_001256488.1:c.5206T>C, NM_001366283.2:c.5323T>C, NM_001366283.1:c.5323T>C, XM_047447987.1:c.5446T>C, XM_047447993.1:c.5206T>C, NM_001389631.1:c.5311T>C, XM_047447988.1:c.5431T>C, XM_047447989.1:c.5428T>C, XM_047447990.1:c.5428T>C, XM_047447991.1:c.5329T>C, XM_047447992.1:c.5323T>C, XM_047447994.1:c.5206T>C, XM_047447995.1:c.5206T>C, XM_047447996.1:c.5446T>C, XP_005247428.1:p.Cys1816Arg, NP_004478.3:p.Cys1811Arg, XP_011511001.1:p.Cys1816Arg, XP_006713651.1:p.Cys1811Arg, XP_006713652.1:p.Cys1810Arg, XP_005247430.1:p.Cys1775Arg, XP_006713654.1:p.Cys1736Arg, XP_016861678.1:p.Cys1811Arg, XP_016861679.1:p.Cys1810Arg, XP_016861680.1:p.Cys1775Arg, NP_001243416.1:p.Cys1777Arg, NP_001243415.1:p.Cys1816Arg, NP_001353211.1:p.Cys1816Arg, NP_001353213.1:p.Cys1736Arg, XP_016861684.1:p.Cys1563Arg, NP_001243417.1:p.Cys1736Arg, NP_001353212.1:p.Cys1775Arg, XP_047303943.1:p.Cys1816Arg, XP_047303949.1:p.Cys1736Arg, NP_001376560.1:p.Cys1771Arg, XP_047303944.1:p.Cys1811Arg, XP_047303945.1:p.Cys1810Arg, XP_047303946.1:p.Cys1810Arg, XP_047303947.1:p.Cys1777Arg, XP_047303948.1:p.Cys1775Arg, XP_047303950.1:p.Cys1736Arg, XP_047303951.1:p.Cys1736Arg, XP_047303952.1:p.Cys1816Arg

                                16.

                                rs1485798580 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,G [Show Flanks]
                                  Chromosome:
                                  3:121691018 (GRCh38)
                                  3:121409865 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:121691017:T:A,NC_000003.12:121691017:T:G
                                  Gene:
                                  GOLGB1 (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_000003.12:g.121691018T>A, NC_000003.12:g.121691018T>G, NC_000003.11:g.121409865T>A, NC_000003.11:g.121409865T>G, XM_005247371.5:c.8346A>T, XM_005247371.5:c.8346A>C, XM_005247371.4:c.8346A>T, XM_005247371.4:c.8346A>C, XM_005247371.3:c.8346A>T, XM_005247371.3:c.8346A>C, XM_005247371.2:c.8346A>T, XM_005247371.2:c.8346A>C, XM_005247371.1:c.8346A>T, XM_005247371.1:c.8346A>C, NM_004487.5:c.8331A>T, NM_004487.5:c.8331A>C, NM_004487.4:c.8331A>T, NM_004487.4:c.8331A>C, XM_011512699.4:c.8346A>T, XM_011512699.4:c.8346A>C, XM_011512699.3:c.8346A>T, XM_011512699.3:c.8346A>C, XM_011512699.2:c.8346A>T, XM_011512699.2:c.8346A>C, XM_011512699.1:c.8346A>T, XM_011512699.1:c.8346A>C, XM_006713588.3:c.8331A>T, XM_006713588.3:c.8331A>C, XM_006713588.2:c.8331A>T, XM_006713588.2:c.8331A>C, XM_006713588.1:c.8331A>T, XM_006713588.1:c.8331A>C, XM_006713589.3:c.8328A>T, XM_006713589.3:c.8328A>C, XM_006713589.2:c.8328A>T, XM_006713589.2:c.8328A>C, XM_006713589.1:c.8328A>T, XM_006713589.1:c.8328A>C, XM_005247373.3:c.8223A>T, XM_005247373.3:c.8223A>C, XM_005247373.2:c.8223A>T, XM_005247373.2:c.8223A>C, XM_005247373.1:c.8223A>T, XM_005247373.1:c.8223A>C, XM_006713591.3:c.8106A>T, XM_006713591.3:c.8106A>C, XM_006713591.2:c.8106A>T, XM_006713591.2:c.8106A>C, XM_006713591.1:c.8106A>T, XM_006713591.1:c.8106A>C, XM_017006189.2:c.8331A>T, XM_017006189.2:c.8331A>C, XM_017006189.1:c.8331A>T, XM_017006189.1:c.8331A>C, XM_017006190.2:c.8328A>T, XM_017006190.2:c.8328A>C, XM_017006190.1:c.8328A>T, XM_017006190.1:c.8328A>C, XM_017006191.2:c.8223A>T, XM_017006191.2:c.8223A>C, XM_017006191.1:c.8223A>T, XM_017006191.1:c.8223A>C, NM_001256487.2:c.8229A>T, NM_001256487.2:c.8229A>C, NM_001256487.1:c.8229A>T, NM_001256487.1:c.8229A>C, NM_001256486.2:c.8346A>T, NM_001256486.2:c.8346A>C, NM_001256486.1:c.8346A>T, NM_001256486.1:c.8346A>C, NM_001366282.2:c.8346A>T, NM_001366282.2:c.8346A>C, NM_001366282.1:c.8346A>T, NM_001366282.1:c.8346A>C, NM_001366284.2:c.8106A>T, NM_001366284.2:c.8106A>C, NM_001366284.1:c.8106A>T, NM_001366284.1:c.8106A>C, XM_017006195.2:c.7587A>T, XM_017006195.2:c.7587A>C, XM_017006195.1:c.7587A>T, XM_017006195.1:c.7587A>C, NM_001256488.2:c.8106A>T, NM_001256488.2:c.8106A>C, NM_001256488.1:c.8106A>T, NM_001256488.1:c.8106A>C, NM_001366283.2:c.8223A>T, NM_001366283.2:c.8223A>C, NM_001366283.1:c.8223A>T, NM_001366283.1:c.8223A>C, XM_047447987.1:c.8346A>T, XM_047447987.1:c.8346A>C, XM_047447993.1:c.8106A>T, XM_047447993.1:c.8106A>C, NM_001389631.1:c.8211A>T, NM_001389631.1:c.8211A>C, XM_047447988.1:c.8331A>T, XM_047447988.1:c.8331A>C, XM_047447989.1:c.8328A>T, XM_047447989.1:c.8328A>C, XM_047447990.1:c.8328A>T, XM_047447990.1:c.8328A>C, XM_047447991.1:c.8229A>T, XM_047447991.1:c.8229A>C, XM_047447992.1:c.8223A>T, XM_047447992.1:c.8223A>C, XM_047447994.1:c.8106A>T, XM_047447994.1:c.8106A>C, XM_047447995.1:c.8106A>T, XM_047447995.1:c.8106A>C, XM_047447996.1:c.8346A>T, XM_047447996.1:c.8346A>C, XP_005247428.1:p.Leu2782Phe, XP_005247428.1:p.Leu2782Phe, NP_004478.3:p.Leu2777Phe, NP_004478.3:p.Leu2777Phe, XP_011511001.1:p.Leu2782Phe, XP_011511001.1:p.Leu2782Phe, XP_006713651.1:p.Leu2777Phe, XP_006713651.1:p.Leu2777Phe, XP_006713652.1:p.Leu2776Phe, XP_006713652.1:p.Leu2776Phe, XP_005247430.1:p.Leu2741Phe, XP_005247430.1:p.Leu2741Phe, XP_006713654.1:p.Leu2702Phe, XP_006713654.1:p.Leu2702Phe, XP_016861678.1:p.Leu2777Phe, XP_016861678.1:p.Leu2777Phe, XP_016861679.1:p.Leu2776Phe, XP_016861679.1:p.Leu2776Phe, XP_016861680.1:p.Leu2741Phe, XP_016861680.1:p.Leu2741Phe, NP_001243416.1:p.Leu2743Phe, NP_001243416.1:p.Leu2743Phe, NP_001243415.1:p.Leu2782Phe, NP_001243415.1:p.Leu2782Phe, NP_001353211.1:p.Leu2782Phe, NP_001353211.1:p.Leu2782Phe, NP_001353213.1:p.Leu2702Phe, NP_001353213.1:p.Leu2702Phe, XP_016861684.1:p.Leu2529Phe, XP_016861684.1:p.Leu2529Phe, NP_001243417.1:p.Leu2702Phe, NP_001243417.1:p.Leu2702Phe, NP_001353212.1:p.Leu2741Phe, NP_001353212.1:p.Leu2741Phe, XP_047303943.1:p.Leu2782Phe, XP_047303943.1:p.Leu2782Phe, XP_047303949.1:p.Leu2702Phe, XP_047303949.1:p.Leu2702Phe, NP_001376560.1:p.Leu2737Phe, NP_001376560.1:p.Leu2737Phe, XP_047303944.1:p.Leu2777Phe, XP_047303944.1:p.Leu2777Phe, XP_047303945.1:p.Leu2776Phe, XP_047303945.1:p.Leu2776Phe, XP_047303946.1:p.Leu2776Phe, XP_047303946.1:p.Leu2776Phe, XP_047303947.1:p.Leu2743Phe, XP_047303947.1:p.Leu2743Phe, XP_047303948.1:p.Leu2741Phe, XP_047303948.1:p.Leu2741Phe, XP_047303950.1:p.Leu2702Phe, XP_047303950.1:p.Leu2702Phe, XP_047303951.1:p.Leu2702Phe, XP_047303951.1:p.Leu2702Phe, XP_047303952.1:p.Leu2782Phe, XP_047303952.1:p.Leu2782Phe

                                  17.

                                  rs1485221873 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    3:121664568 (GRCh38)
                                    3:121383415 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:121664567:T:C
                                    Gene:
                                    GOLGB1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000073/3 (ALFA)
                                    C=0.000012/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.121664568T>C, NC_000003.11:g.121383415T>C, XM_005247371.5:c.9722A>G, XM_005247371.4:c.9722A>G, XM_005247371.3:c.9722A>G, XM_005247371.2:c.9722A>G, XM_005247371.1:c.9722A>G, NM_004487.5:c.9692A>G, NM_004487.4:c.9692A>G, XM_011512699.4:c.9722A>G, XM_011512699.3:c.9722A>G, XM_011512699.2:c.9722A>G, XM_011512699.1:c.9722A>G, XM_006713588.3:c.9707A>G, XM_006713588.2:c.9707A>G, XM_006713588.1:c.9707A>G, XM_006713589.3:c.9704A>G, XM_006713589.2:c.9704A>G, XM_006713589.1:c.9704A>G, XM_005247373.3:c.9599A>G, XM_005247373.2:c.9599A>G, XM_005247373.1:c.9599A>G, XM_006713591.3:c.9482A>G, XM_006713591.2:c.9482A>G, XM_006713591.1:c.9482A>G, XM_017006189.2:c.9707A>G, XM_017006189.1:c.9707A>G, XM_017006190.2:c.9704A>G, XM_017006190.1:c.9704A>G, XM_017006191.2:c.9599A>G, XM_017006191.1:c.9599A>G, NM_001256487.2:c.9590A>G, NM_001256487.1:c.9590A>G, NM_001256486.2:c.9722A>G, NM_001256486.1:c.9722A>G, NM_001366282.2:c.9707A>G, NM_001366282.1:c.9707A>G, NM_001366284.2:c.9482A>G, NM_001366284.1:c.9482A>G, XM_017006195.2:c.8963A>G, XM_017006195.1:c.8963A>G, NM_001256488.2:c.9467A>G, NM_001256488.1:c.9467A>G, NM_001366283.2:c.9584A>G, NM_001366283.1:c.9584A>G, XM_047447987.1:c.9707A>G, XM_047447993.1:c.9482A>G, NM_001389631.1:c.9587A>G, XM_047447988.1:c.9707A>G, XM_047447989.1:c.9704A>G, XM_047447990.1:c.9689A>G, XM_047447991.1:c.9605A>G, XM_047447992.1:c.9599A>G, XM_047447994.1:c.9482A>G, XM_047447995.1:c.9467A>G, XP_005247428.1:p.His3241Arg, NP_004478.3:p.His3231Arg, XP_011511001.1:p.His3241Arg, XP_006713651.1:p.His3236Arg, XP_006713652.1:p.His3235Arg, XP_005247430.1:p.His3200Arg, XP_006713654.1:p.His3161Arg, XP_016861678.1:p.His3236Arg, XP_016861679.1:p.His3235Arg, XP_016861680.1:p.His3200Arg, NP_001243416.1:p.His3197Arg, NP_001243415.1:p.His3241Arg, NP_001353211.1:p.His3236Arg, NP_001353213.1:p.His3161Arg, XP_016861684.1:p.His2988Arg, NP_001243417.1:p.His3156Arg, NP_001353212.1:p.His3195Arg, XP_047303943.1:p.His3236Arg, XP_047303949.1:p.His3161Arg, NP_001376560.1:p.His3196Arg, XP_047303944.1:p.His3236Arg, XP_047303945.1:p.His3235Arg, XP_047303946.1:p.His3230Arg, XP_047303947.1:p.His3202Arg, XP_047303948.1:p.His3200Arg, XP_047303950.1:p.His3161Arg, XP_047303951.1:p.His3156Arg

                                    18.

                                    rs1484857735 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:121697757 (GRCh38)
                                      3:121416604 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:121697756:A:G
                                      Gene:
                                      GOLGB1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.121697757A>G, NC_000003.11:g.121416604A>G, XM_005247371.5:c.2766T>C, XM_005247371.4:c.2766T>C, XM_005247371.3:c.2766T>C, XM_005247371.2:c.2766T>C, XM_005247371.1:c.2766T>C, NM_004487.5:c.2751T>C, NM_004487.4:c.2751T>C, XM_011512699.4:c.2766T>C, XM_011512699.3:c.2766T>C, XM_011512699.2:c.2766T>C, XM_011512699.1:c.2766T>C, XM_006713588.3:c.2751T>C, XM_006713588.2:c.2751T>C, XM_006713588.1:c.2751T>C, XM_006713589.3:c.2748T>C, XM_006713589.2:c.2748T>C, XM_006713589.1:c.2748T>C, XM_005247373.3:c.2643T>C, XM_005247373.2:c.2643T>C, XM_005247373.1:c.2643T>C, XM_006713591.3:c.2526T>C, XM_006713591.2:c.2526T>C, XM_006713591.1:c.2526T>C, XM_017006189.2:c.2751T>C, XM_017006189.1:c.2751T>C, XM_017006190.2:c.2748T>C, XM_017006190.1:c.2748T>C, XM_017006191.2:c.2643T>C, XM_017006191.1:c.2643T>C, NM_001256487.2:c.2649T>C, NM_001256487.1:c.2649T>C, NM_001256486.2:c.2766T>C, NM_001256486.1:c.2766T>C, NM_001366282.2:c.2766T>C, NM_001366282.1:c.2766T>C, NM_001366284.2:c.2526T>C, NM_001366284.1:c.2526T>C, XM_017006195.2:c.2007T>C, XM_017006195.1:c.2007T>C, NM_001256488.2:c.2526T>C, NM_001256488.1:c.2526T>C, NM_001366283.2:c.2643T>C, NM_001366283.1:c.2643T>C, XM_047447987.1:c.2766T>C, XM_047447993.1:c.2526T>C, NM_001389631.1:c.2631T>C, XM_047447988.1:c.2751T>C, XM_047447989.1:c.2748T>C, XM_047447990.1:c.2748T>C, XM_047447991.1:c.2649T>C, XM_047447992.1:c.2643T>C, XM_047447994.1:c.2526T>C, XM_047447995.1:c.2526T>C, XM_047447996.1:c.2766T>C

                                      19.

                                      rs1484814728 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        3:121697194 (GRCh38)
                                        3:121416041 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:121697193:G:T
                                        Gene:
                                        GOLGB1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.121697194G>T, NC_000003.11:g.121416041G>T, XM_005247371.5:c.3329C>A, XM_005247371.4:c.3329C>A, XM_005247371.3:c.3329C>A, XM_005247371.2:c.3329C>A, XM_005247371.1:c.3329C>A, NM_004487.5:c.3314C>A, NM_004487.4:c.3314C>A, XM_011512699.4:c.3329C>A, XM_011512699.3:c.3329C>A, XM_011512699.2:c.3329C>A, XM_011512699.1:c.3329C>A, XM_006713588.3:c.3314C>A, XM_006713588.2:c.3314C>A, XM_006713588.1:c.3314C>A, XM_006713589.3:c.3311C>A, XM_006713589.2:c.3311C>A, XM_006713589.1:c.3311C>A, XM_005247373.3:c.3206C>A, XM_005247373.2:c.3206C>A, XM_005247373.1:c.3206C>A, XM_006713591.3:c.3089C>A, XM_006713591.2:c.3089C>A, XM_006713591.1:c.3089C>A, XM_017006189.2:c.3314C>A, XM_017006189.1:c.3314C>A, XM_017006190.2:c.3311C>A, XM_017006190.1:c.3311C>A, XM_017006191.2:c.3206C>A, XM_017006191.1:c.3206C>A, NM_001256487.2:c.3212C>A, NM_001256487.1:c.3212C>A, NM_001256486.2:c.3329C>A, NM_001256486.1:c.3329C>A, NM_001366282.2:c.3329C>A, NM_001366282.1:c.3329C>A, NM_001366284.2:c.3089C>A, NM_001366284.1:c.3089C>A, XM_017006195.2:c.2570C>A, XM_017006195.1:c.2570C>A, NM_001256488.2:c.3089C>A, NM_001256488.1:c.3089C>A, NM_001366283.2:c.3206C>A, NM_001366283.1:c.3206C>A, XM_047447987.1:c.3329C>A, XM_047447993.1:c.3089C>A, NM_001389631.1:c.3194C>A, XM_047447988.1:c.3314C>A, XM_047447989.1:c.3311C>A, XM_047447990.1:c.3311C>A, XM_047447991.1:c.3212C>A, XM_047447992.1:c.3206C>A, XM_047447994.1:c.3089C>A, XM_047447995.1:c.3089C>A, XM_047447996.1:c.3329C>A, XP_005247428.1:p.Thr1110Lys, NP_004478.3:p.Thr1105Lys, XP_011511001.1:p.Thr1110Lys, XP_006713651.1:p.Thr1105Lys, XP_006713652.1:p.Thr1104Lys, XP_005247430.1:p.Thr1069Lys, XP_006713654.1:p.Thr1030Lys, XP_016861678.1:p.Thr1105Lys, XP_016861679.1:p.Thr1104Lys, XP_016861680.1:p.Thr1069Lys, NP_001243416.1:p.Thr1071Lys, NP_001243415.1:p.Thr1110Lys, NP_001353211.1:p.Thr1110Lys, NP_001353213.1:p.Thr1030Lys, XP_016861684.1:p.Thr857Lys, NP_001243417.1:p.Thr1030Lys, NP_001353212.1:p.Thr1069Lys, XP_047303943.1:p.Thr1110Lys, XP_047303949.1:p.Thr1030Lys, NP_001376560.1:p.Thr1065Lys, XP_047303944.1:p.Thr1105Lys, XP_047303945.1:p.Thr1104Lys, XP_047303946.1:p.Thr1104Lys, XP_047303947.1:p.Thr1071Lys, XP_047303948.1:p.Thr1069Lys, XP_047303950.1:p.Thr1030Lys, XP_047303951.1:p.Thr1030Lys, XP_047303952.1:p.Thr1110Lys

                                        20.

                                        rs1484320083 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          3:121699837 (GRCh38)
                                          3:121418684 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:121699836:C:A
                                          Gene:
                                          GOLGB1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.121699837C>A, NC_000003.11:g.121418684C>A, XM_005247371.5:c.1568G>T, XM_005247371.4:c.1568G>T, XM_005247371.3:c.1568G>T, XM_005247371.2:c.1568G>T, XM_005247371.1:c.1568G>T, NM_004487.5:c.1553G>T, NM_004487.4:c.1553G>T, XM_011512699.4:c.1568G>T, XM_011512699.3:c.1568G>T, XM_011512699.2:c.1568G>T, XM_011512699.1:c.1568G>T, XM_006713588.3:c.1553G>T, XM_006713588.2:c.1553G>T, XM_006713588.1:c.1553G>T, XM_006713589.3:c.1550G>T, XM_006713589.2:c.1550G>T, XM_006713589.1:c.1550G>T, XM_005247373.3:c.1445G>T, XM_005247373.2:c.1445G>T, XM_005247373.1:c.1445G>T, XM_006713591.3:c.1328G>T, XM_006713591.2:c.1328G>T, XM_006713591.1:c.1328G>T, XM_017006189.2:c.1553G>T, XM_017006189.1:c.1553G>T, XM_017006190.2:c.1550G>T, XM_017006190.1:c.1550G>T, XM_017006191.2:c.1445G>T, XM_017006191.1:c.1445G>T, NM_001256487.2:c.1451G>T, NM_001256487.1:c.1451G>T, NM_001256486.2:c.1568G>T, NM_001256486.1:c.1568G>T, NM_001366282.2:c.1568G>T, NM_001366282.1:c.1568G>T, NM_001366284.2:c.1328G>T, NM_001366284.1:c.1328G>T, XM_017006195.2:c.809G>T, XM_017006195.1:c.809G>T, NM_001256488.2:c.1328G>T, NM_001256488.1:c.1328G>T, NM_001366283.2:c.1445G>T, NM_001366283.1:c.1445G>T, XM_047447987.1:c.1568G>T, XM_047447993.1:c.1328G>T, NM_001389631.1:c.1433G>T, XM_047447988.1:c.1553G>T, XM_047447989.1:c.1550G>T, XM_047447990.1:c.1550G>T, XM_047447991.1:c.1451G>T, XM_047447992.1:c.1445G>T, XM_047447994.1:c.1328G>T, XM_047447995.1:c.1328G>T, XM_047447996.1:c.1568G>T, XP_005247428.1:p.Gly523Val, NP_004478.3:p.Gly518Val, XP_011511001.1:p.Gly523Val, XP_006713651.1:p.Gly518Val, XP_006713652.1:p.Gly517Val, XP_005247430.1:p.Gly482Val, XP_006713654.1:p.Gly443Val, XP_016861678.1:p.Gly518Val, XP_016861679.1:p.Gly517Val, XP_016861680.1:p.Gly482Val, NP_001243416.1:p.Gly484Val, NP_001243415.1:p.Gly523Val, NP_001353211.1:p.Gly523Val, NP_001353213.1:p.Gly443Val, XP_016861684.1:p.Gly270Val, NP_001243417.1:p.Gly443Val, NP_001353212.1:p.Gly482Val, XP_047303943.1:p.Gly523Val, XP_047303949.1:p.Gly443Val, NP_001376560.1:p.Gly478Val, XP_047303944.1:p.Gly518Val, XP_047303945.1:p.Gly517Val, XP_047303946.1:p.Gly517Val, XP_047303947.1:p.Gly484Val, XP_047303948.1:p.Gly482Val, XP_047303950.1:p.Gly443Val, XP_047303951.1:p.Gly443Val, XP_047303952.1:p.Gly523Val

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