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Items: 1 to 20 of 474

1.

rs1485654403 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    22:30555313 (GRCh38)
    22:30951300 (GRCh37)
    Canonical SPDI:
    NC_000022.11:30555312:G:C
    Gene:
    GAL3ST1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.30555313G>C, NC_000022.10:g.30951300G>C, NM_004861.3:c.912C>G, NM_004861.2:c.912C>G, NM_004861.1:c.912C>G, XM_011530522.3:c.915C>G, XM_011530522.2:c.915C>G, XM_011530522.1:c.915C>G, XM_011530518.3:c.990C>G, XM_011530518.2:c.993C>G, XM_011530518.1:c.993C>G, NM_001318104.2:c.912C>G, NM_001318104.1:c.912C>G, NM_001318106.2:c.912C>G, NM_001318106.1:c.912C>G, NM_001318107.2:c.915C>G, NM_001318107.1:c.915C>G, NM_001318108.2:c.912C>G, NM_001318108.1:c.912C>G, NM_001318116.2:c.912C>G, NM_001318116.1:c.912C>G, NM_001318103.2:c.912C>G, NM_001318103.1:c.912C>G, NM_001318110.2:c.912C>G, NM_001318110.1:c.912C>G, NM_001318105.2:c.912C>G, NM_001318105.1:c.912C>G, NM_001318115.2:c.912C>G, NM_001318115.1:c.912C>G, NM_001318113.2:c.912C>G, NM_001318113.1:c.912C>G, XM_011530528.2:c.915C>G, XM_011530528.1:c.915C>G, XM_017029097.2:c.915C>G, XM_017029097.1:c.915C>G, XM_017029096.2:c.915C>G, XM_017029096.1:c.915C>G, NM_001318111.2:c.912C>G, NM_001318111.1:c.912C>G, NM_001318114.2:c.915C>G, NM_001318114.1:c.915C>G, NM_001318112.2:c.912C>G, NM_001318112.1:c.912C>G, NM_001318109.1:c.987C>G, NP_004852.1:p.Asp304Glu, XP_011528824.1:p.Asp305Glu, XP_011528820.2:p.Asp330Glu, NP_001305033.1:p.Asp304Glu, NP_001305035.1:p.Asp304Glu, NP_001305036.1:p.Asp305Glu, NP_001305037.1:p.Asp304Glu, NP_001305045.1:p.Asp304Glu, NP_001305032.1:p.Asp304Glu, NP_001305039.1:p.Asp304Glu, NP_001305034.1:p.Asp304Glu, NP_001305044.1:p.Asp304Glu, NP_001305042.1:p.Asp304Glu, XP_011528830.1:p.Asp305Glu, XP_016884586.1:p.Asp305Glu, XP_016884585.1:p.Asp305Glu, NP_001305040.1:p.Asp304Glu, NP_001305043.1:p.Asp305Glu, NP_001305041.1:p.Asp304Glu, NP_001305038.1:p.Asp329Glu

    2.

    rs1483769724 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      22:30555369 (GRCh38)
      22:30951356 (GRCh37)
      Canonical SPDI:
      NC_000022.11:30555368:C:G,NC_000022.11:30555368:C:T
      Gene:
      GAL3ST1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.30555369C>G, NC_000022.11:g.30555369C>T, NC_000022.10:g.30951356C>G, NC_000022.10:g.30951356C>T, NM_004861.3:c.856G>C, NM_004861.3:c.856G>A, NM_004861.2:c.856G>C, NM_004861.2:c.856G>A, NM_004861.1:c.856G>C, NM_004861.1:c.856G>A, XM_011530522.3:c.859G>C, XM_011530522.3:c.859G>A, XM_011530522.2:c.859G>C, XM_011530522.2:c.859G>A, XM_011530522.1:c.859G>C, XM_011530522.1:c.859G>A, XM_011530518.3:c.934G>C, XM_011530518.3:c.934G>A, XM_011530518.2:c.937G>C, XM_011530518.2:c.937G>A, XM_011530518.1:c.937G>C, XM_011530518.1:c.937G>A, NM_001318104.2:c.856G>C, NM_001318104.2:c.856G>A, NM_001318104.1:c.856G>C, NM_001318104.1:c.856G>A, NM_001318106.2:c.856G>C, NM_001318106.2:c.856G>A, NM_001318106.1:c.856G>C, NM_001318106.1:c.856G>A, NM_001318107.2:c.859G>C, NM_001318107.2:c.859G>A, NM_001318107.1:c.859G>C, NM_001318107.1:c.859G>A, NM_001318108.2:c.856G>C, NM_001318108.2:c.856G>A, NM_001318108.1:c.856G>C, NM_001318108.1:c.856G>A, NM_001318116.2:c.856G>C, NM_001318116.2:c.856G>A, NM_001318116.1:c.856G>C, NM_001318116.1:c.856G>A, NM_001318103.2:c.856G>C, NM_001318103.2:c.856G>A, NM_001318103.1:c.856G>C, NM_001318103.1:c.856G>A, NM_001318110.2:c.856G>C, NM_001318110.2:c.856G>A, NM_001318110.1:c.856G>C, NM_001318110.1:c.856G>A, NM_001318105.2:c.856G>C, NM_001318105.2:c.856G>A, NM_001318105.1:c.856G>C, NM_001318105.1:c.856G>A, NM_001318115.2:c.856G>C, NM_001318115.2:c.856G>A, NM_001318115.1:c.856G>C, NM_001318115.1:c.856G>A, NM_001318113.2:c.856G>C, NM_001318113.2:c.856G>A, NM_001318113.1:c.856G>C, NM_001318113.1:c.856G>A, XM_011530528.2:c.859G>C, XM_011530528.2:c.859G>A, XM_011530528.1:c.859G>C, XM_011530528.1:c.859G>A, XM_017029097.2:c.859G>C, XM_017029097.2:c.859G>A, XM_017029097.1:c.859G>C, XM_017029097.1:c.859G>A, XM_017029096.2:c.859G>C, XM_017029096.2:c.859G>A, XM_017029096.1:c.859G>C, XM_017029096.1:c.859G>A, NM_001318111.2:c.856G>C, NM_001318111.2:c.856G>A, NM_001318111.1:c.856G>C, NM_001318111.1:c.856G>A, NM_001318114.2:c.859G>C, NM_001318114.2:c.859G>A, NM_001318114.1:c.859G>C, NM_001318114.1:c.859G>A, NM_001318112.2:c.856G>C, NM_001318112.2:c.856G>A, NM_001318112.1:c.856G>C, NM_001318112.1:c.856G>A, NM_001318109.1:c.931G>C, NM_001318109.1:c.931G>A, NP_004852.1:p.Val286Leu, NP_004852.1:p.Val286Met, XP_011528824.1:p.Val287Leu, XP_011528824.1:p.Val287Met, XP_011528820.2:p.Val312Leu, XP_011528820.2:p.Val312Met, NP_001305033.1:p.Val286Leu, NP_001305033.1:p.Val286Met, NP_001305035.1:p.Val286Leu, NP_001305035.1:p.Val286Met, NP_001305036.1:p.Val287Leu, NP_001305036.1:p.Val287Met, NP_001305037.1:p.Val286Leu, NP_001305037.1:p.Val286Met, NP_001305045.1:p.Val286Leu, NP_001305045.1:p.Val286Met, NP_001305032.1:p.Val286Leu, NP_001305032.1:p.Val286Met, NP_001305039.1:p.Val286Leu, NP_001305039.1:p.Val286Met, NP_001305034.1:p.Val286Leu, NP_001305034.1:p.Val286Met, NP_001305044.1:p.Val286Leu, NP_001305044.1:p.Val286Met, NP_001305042.1:p.Val286Leu, NP_001305042.1:p.Val286Met, XP_011528830.1:p.Val287Leu, XP_011528830.1:p.Val287Met, XP_016884586.1:p.Val287Leu, XP_016884586.1:p.Val287Met, XP_016884585.1:p.Val287Leu, XP_016884585.1:p.Val287Met, NP_001305040.1:p.Val286Leu, NP_001305040.1:p.Val286Met, NP_001305043.1:p.Val287Leu, NP_001305043.1:p.Val287Met, NP_001305041.1:p.Val286Leu, NP_001305041.1:p.Val286Met, NP_001305038.1:p.Val311Leu, NP_001305038.1:p.Val311Met

      3.

      rs1483370753 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        22:30555046 (GRCh38)
        22:30951033 (GRCh37)
        Canonical SPDI:
        NC_000022.11:30555045:C:A
        Gene:
        GAL3ST1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.30555046C>A, NC_000022.10:g.30951033C>A, NM_004861.3:c.1179G>T, NM_004861.2:c.1179G>T, NM_004861.1:c.1179G>T, XM_011530522.3:c.1182G>T, XM_011530522.2:c.1182G>T, XM_011530522.1:c.1182G>T, XM_011530518.3:c.1257G>T, XM_011530518.2:c.1260G>T, XM_011530518.1:c.1260G>T, NM_001318104.2:c.1179G>T, NM_001318104.1:c.1179G>T, NM_001318106.2:c.1179G>T, NM_001318106.1:c.1179G>T, NM_001318107.2:c.1182G>T, NM_001318107.1:c.1182G>T, NM_001318108.2:c.1179G>T, NM_001318108.1:c.1179G>T, NM_001318116.2:c.1179G>T, NM_001318116.1:c.1179G>T, NM_001318103.2:c.1179G>T, NM_001318103.1:c.1179G>T, NM_001318110.2:c.1179G>T, NM_001318110.1:c.1179G>T, NM_001318105.2:c.1179G>T, NM_001318105.1:c.1179G>T, NM_001318115.2:c.1179G>T, NM_001318115.1:c.1179G>T, NM_001318113.2:c.1179G>T, NM_001318113.1:c.1179G>T, XM_011530528.2:c.1182G>T, XM_011530528.1:c.1182G>T, XM_017029097.2:c.1182G>T, XM_017029097.1:c.1182G>T, XM_017029096.2:c.1182G>T, XM_017029096.1:c.1182G>T, NM_001318111.2:c.1179G>T, NM_001318111.1:c.1179G>T, NM_001318114.2:c.1182G>T, NM_001318114.1:c.1182G>T, NM_001318112.2:c.1179G>T, NM_001318112.1:c.1179G>T, NM_001318109.1:c.1254G>T, NP_004852.1:p.Met393Ile, XP_011528824.1:p.Met394Ile, XP_011528820.2:p.Met419Ile, NP_001305033.1:p.Met393Ile, NP_001305035.1:p.Met393Ile, NP_001305036.1:p.Met394Ile, NP_001305037.1:p.Met393Ile, NP_001305045.1:p.Met393Ile, NP_001305032.1:p.Met393Ile, NP_001305039.1:p.Met393Ile, NP_001305034.1:p.Met393Ile, NP_001305044.1:p.Met393Ile, NP_001305042.1:p.Met393Ile, XP_011528830.1:p.Met394Ile, XP_016884586.1:p.Met394Ile, XP_016884585.1:p.Met394Ile, NP_001305040.1:p.Met393Ile, NP_001305043.1:p.Met394Ile, NP_001305041.1:p.Met393Ile, NP_001305038.1:p.Met418Ile

        4.

        rs1482576801 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          22:30555753 (GRCh38)
          22:30951740 (GRCh37)
          Canonical SPDI:
          NC_000022.11:30555752:T:A,NC_000022.11:30555752:T:C
          Gene:
          GAL3ST1 (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_000022.11:g.30555753T>A, NC_000022.11:g.30555753T>C, NC_000022.10:g.30951740T>A, NC_000022.10:g.30951740T>C, NM_004861.3:c.472A>T, NM_004861.3:c.472A>G, NM_004861.2:c.472A>T, NM_004861.2:c.472A>G, NM_004861.1:c.472A>T, NM_004861.1:c.472A>G, XM_011530522.3:c.475A>T, XM_011530522.3:c.475A>G, XM_011530522.2:c.475A>T, XM_011530522.2:c.475A>G, XM_011530522.1:c.475A>T, XM_011530522.1:c.475A>G, XM_011530518.3:c.550A>T, XM_011530518.3:c.550A>G, XM_011530518.2:c.553A>T, XM_011530518.2:c.553A>G, XM_011530518.1:c.553A>T, XM_011530518.1:c.553A>G, NM_001318104.2:c.472A>T, NM_001318104.2:c.472A>G, NM_001318104.1:c.472A>T, NM_001318104.1:c.472A>G, NM_001318106.2:c.472A>T, NM_001318106.2:c.472A>G, NM_001318106.1:c.472A>T, NM_001318106.1:c.472A>G, NM_001318107.2:c.475A>T, NM_001318107.2:c.475A>G, NM_001318107.1:c.475A>T, NM_001318107.1:c.475A>G, NM_001318108.2:c.472A>T, NM_001318108.2:c.472A>G, NM_001318108.1:c.472A>T, NM_001318108.1:c.472A>G, NM_001318116.2:c.472A>T, NM_001318116.2:c.472A>G, NM_001318116.1:c.472A>T, NM_001318116.1:c.472A>G, NM_001318103.2:c.472A>T, NM_001318103.2:c.472A>G, NM_001318103.1:c.472A>T, NM_001318103.1:c.472A>G, NM_001318110.2:c.472A>T, NM_001318110.2:c.472A>G, NM_001318110.1:c.472A>T, NM_001318110.1:c.472A>G, NM_001318105.2:c.472A>T, NM_001318105.2:c.472A>G, NM_001318105.1:c.472A>T, NM_001318105.1:c.472A>G, NM_001318115.2:c.472A>T, NM_001318115.2:c.472A>G, NM_001318115.1:c.472A>T, NM_001318115.1:c.472A>G, NM_001318113.2:c.472A>T, NM_001318113.2:c.472A>G, NM_001318113.1:c.472A>T, NM_001318113.1:c.472A>G, XM_011530528.2:c.475A>T, XM_011530528.2:c.475A>G, XM_011530528.1:c.475A>T, XM_011530528.1:c.475A>G, XM_017029097.2:c.475A>T, XM_017029097.2:c.475A>G, XM_017029097.1:c.475A>T, XM_017029097.1:c.475A>G, XM_017029096.2:c.475A>T, XM_017029096.2:c.475A>G, XM_017029096.1:c.475A>T, XM_017029096.1:c.475A>G, NM_001318111.2:c.472A>T, NM_001318111.2:c.472A>G, NM_001318111.1:c.472A>T, NM_001318111.1:c.472A>G, NM_001318114.2:c.475A>T, NM_001318114.2:c.475A>G, NM_001318114.1:c.475A>T, NM_001318114.1:c.475A>G, NM_001318112.2:c.472A>T, NM_001318112.2:c.472A>G, NM_001318112.1:c.472A>T, NM_001318112.1:c.472A>G, NM_001318109.1:c.547A>T, NM_001318109.1:c.547A>G, NP_004852.1:p.Ile158Phe, NP_004852.1:p.Ile158Val, XP_011528824.1:p.Ile159Phe, XP_011528824.1:p.Ile159Val, XP_011528820.2:p.Ile184Phe, XP_011528820.2:p.Ile184Val, NP_001305033.1:p.Ile158Phe, NP_001305033.1:p.Ile158Val, NP_001305035.1:p.Ile158Phe, NP_001305035.1:p.Ile158Val, NP_001305036.1:p.Ile159Phe, NP_001305036.1:p.Ile159Val, NP_001305037.1:p.Ile158Phe, NP_001305037.1:p.Ile158Val, NP_001305045.1:p.Ile158Phe, NP_001305045.1:p.Ile158Val, NP_001305032.1:p.Ile158Phe, NP_001305032.1:p.Ile158Val, NP_001305039.1:p.Ile158Phe, NP_001305039.1:p.Ile158Val, NP_001305034.1:p.Ile158Phe, NP_001305034.1:p.Ile158Val, NP_001305044.1:p.Ile158Phe, NP_001305044.1:p.Ile158Val, NP_001305042.1:p.Ile158Phe, NP_001305042.1:p.Ile158Val, XP_011528830.1:p.Ile159Phe, XP_011528830.1:p.Ile159Val, XP_016884586.1:p.Ile159Phe, XP_016884586.1:p.Ile159Val, XP_016884585.1:p.Ile159Phe, XP_016884585.1:p.Ile159Val, NP_001305040.1:p.Ile158Phe, NP_001305040.1:p.Ile158Val, NP_001305043.1:p.Ile159Phe, NP_001305043.1:p.Ile159Val, NP_001305041.1:p.Ile158Phe, NP_001305041.1:p.Ile158Val, NP_001305038.1:p.Ile183Phe, NP_001305038.1:p.Ile183Val

          5.

          rs1479934499 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            22:30557299 (GRCh38)
            22:30953286 (GRCh37)
            Canonical SPDI:
            NC_000022.11:30557298:A:G
            Gene:
            GAL3ST1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            NC_000022.11:g.30557299A>G, NC_000022.10:g.30953286A>G, NM_004861.3:c.94T>C, NM_004861.2:c.94T>C, NM_004861.1:c.94T>C, XM_011530522.3:c.94T>C, XM_011530522.2:c.94T>C, XM_011530522.1:c.94T>C, XM_011530518.3:c.169T>C, XM_011530518.2:c.172T>C, XM_011530518.1:c.172T>C, NM_001318104.2:c.94T>C, NM_001318104.1:c.94T>C, NM_001318106.2:c.94T>C, NM_001318106.1:c.94T>C, NM_001318107.2:c.94T>C, NM_001318107.1:c.94T>C, NM_001318108.2:c.94T>C, NM_001318108.1:c.94T>C, NM_001318116.2:c.94T>C, NM_001318116.1:c.94T>C, NM_001318103.2:c.94T>C, NM_001318103.1:c.94T>C, NM_001318110.2:c.94T>C, NM_001318110.1:c.94T>C, NM_001318105.2:c.94T>C, NM_001318105.1:c.94T>C, NM_001318115.2:c.94T>C, NM_001318115.1:c.94T>C, NM_001318113.2:c.94T>C, NM_001318113.1:c.94T>C, XM_011530528.2:c.94T>C, XM_011530528.1:c.94T>C, XM_017029097.2:c.94T>C, XM_017029097.1:c.94T>C, XM_017029096.2:c.94T>C, XM_017029096.1:c.94T>C, NM_001318111.2:c.94T>C, NM_001318111.1:c.94T>C, NM_001318114.2:c.94T>C, NM_001318114.1:c.94T>C, NM_001318112.2:c.94T>C, NM_001318112.1:c.94T>C, NM_001318109.1:c.169T>C, NP_004852.1:p.Tyr32His, XP_011528824.1:p.Tyr32His, XP_011528820.2:p.Tyr57His, NP_001305033.1:p.Tyr32His, NP_001305035.1:p.Tyr32His, NP_001305036.1:p.Tyr32His, NP_001305037.1:p.Tyr32His, NP_001305045.1:p.Tyr32His, NP_001305032.1:p.Tyr32His, NP_001305039.1:p.Tyr32His, NP_001305034.1:p.Tyr32His, NP_001305044.1:p.Tyr32His, NP_001305042.1:p.Tyr32His, XP_011528830.1:p.Tyr32His, XP_016884586.1:p.Tyr32His, XP_016884585.1:p.Tyr32His, NP_001305040.1:p.Tyr32His, NP_001305043.1:p.Tyr32His, NP_001305041.1:p.Tyr32His, NP_001305038.1:p.Tyr57His

            6.

            rs1477184744 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              22:30555159 (GRCh38)
              22:30951146 (GRCh37)
              Canonical SPDI:
              NC_000022.11:30555158:C:T
              Gene:
              GAL3ST1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000043/1 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000022.11:g.30555159C>T, NC_000022.10:g.30951146C>T, NM_004861.3:c.1066G>A, NM_004861.2:c.1066G>A, NM_004861.1:c.1066G>A, XM_011530522.3:c.1069G>A, XM_011530522.2:c.1069G>A, XM_011530522.1:c.1069G>A, XM_011530518.3:c.1144G>A, XM_011530518.2:c.1147G>A, XM_011530518.1:c.1147G>A, NM_001318104.2:c.1066G>A, NM_001318104.1:c.1066G>A, NM_001318106.2:c.1066G>A, NM_001318106.1:c.1066G>A, NM_001318107.2:c.1069G>A, NM_001318107.1:c.1069G>A, NM_001318108.2:c.1066G>A, NM_001318108.1:c.1066G>A, NM_001318116.2:c.1066G>A, NM_001318116.1:c.1066G>A, NM_001318103.2:c.1066G>A, NM_001318103.1:c.1066G>A, NM_001318110.2:c.1066G>A, NM_001318110.1:c.1066G>A, NM_001318105.2:c.1066G>A, NM_001318105.1:c.1066G>A, NM_001318115.2:c.1066G>A, NM_001318115.1:c.1066G>A, NM_001318113.2:c.1066G>A, NM_001318113.1:c.1066G>A, XM_011530528.2:c.1069G>A, XM_011530528.1:c.1069G>A, XM_017029097.2:c.1069G>A, XM_017029097.1:c.1069G>A, XM_017029096.2:c.1069G>A, XM_017029096.1:c.1069G>A, NM_001318111.2:c.1066G>A, NM_001318111.1:c.1066G>A, NM_001318114.2:c.1069G>A, NM_001318114.1:c.1069G>A, NM_001318112.2:c.1066G>A, NM_001318112.1:c.1066G>A, NM_001318109.1:c.1141G>A, NP_004852.1:p.Ala356Thr, XP_011528824.1:p.Ala357Thr, XP_011528820.2:p.Ala382Thr, NP_001305033.1:p.Ala356Thr, NP_001305035.1:p.Ala356Thr, NP_001305036.1:p.Ala357Thr, NP_001305037.1:p.Ala356Thr, NP_001305045.1:p.Ala356Thr, NP_001305032.1:p.Ala356Thr, NP_001305039.1:p.Ala356Thr, NP_001305034.1:p.Ala356Thr, NP_001305044.1:p.Ala356Thr, NP_001305042.1:p.Ala356Thr, XP_011528830.1:p.Ala357Thr, XP_016884586.1:p.Ala357Thr, XP_016884585.1:p.Ala357Thr, NP_001305040.1:p.Ala356Thr, NP_001305043.1:p.Ala357Thr, NP_001305041.1:p.Ala356Thr, NP_001305038.1:p.Ala381Thr

              7.

              rs1476236443 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                22:30555033 (GRCh38)
                22:30951020 (GRCh37)
                Canonical SPDI:
                NC_000022.11:30555032:T:C
                Gene:
                GAL3ST1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000022.11:g.30555033T>C, NC_000022.10:g.30951020T>C, NM_004861.3:c.1192A>G, NM_004861.2:c.1192A>G, NM_004861.1:c.1192A>G, XM_011530522.3:c.1195A>G, XM_011530522.2:c.1195A>G, XM_011530522.1:c.1195A>G, XM_011530518.3:c.1270A>G, XM_011530518.2:c.1273A>G, XM_011530518.1:c.1273A>G, NM_001318104.2:c.1192A>G, NM_001318104.1:c.1192A>G, NM_001318106.2:c.1192A>G, NM_001318106.1:c.1192A>G, NM_001318107.2:c.1195A>G, NM_001318107.1:c.1195A>G, NM_001318108.2:c.1192A>G, NM_001318108.1:c.1192A>G, NM_001318116.2:c.1192A>G, NM_001318116.1:c.1192A>G, NM_001318103.2:c.1192A>G, NM_001318103.1:c.1192A>G, NM_001318110.2:c.1192A>G, NM_001318110.1:c.1192A>G, NM_001318105.2:c.1192A>G, NM_001318105.1:c.1192A>G, NM_001318115.2:c.1192A>G, NM_001318115.1:c.1192A>G, NM_001318113.2:c.1192A>G, NM_001318113.1:c.1192A>G, XM_011530528.2:c.1195A>G, XM_011530528.1:c.1195A>G, XM_017029097.2:c.1195A>G, XM_017029097.1:c.1195A>G, XM_017029096.2:c.1195A>G, XM_017029096.1:c.1195A>G, NM_001318111.2:c.1192A>G, NM_001318111.1:c.1192A>G, NM_001318114.2:c.1195A>G, NM_001318114.1:c.1195A>G, NM_001318112.2:c.1192A>G, NM_001318112.1:c.1192A>G, NM_001318109.1:c.1267A>G, NP_004852.1:p.Ile398Val, XP_011528824.1:p.Ile399Val, XP_011528820.2:p.Ile424Val, NP_001305033.1:p.Ile398Val, NP_001305035.1:p.Ile398Val, NP_001305036.1:p.Ile399Val, NP_001305037.1:p.Ile398Val, NP_001305045.1:p.Ile398Val, NP_001305032.1:p.Ile398Val, NP_001305039.1:p.Ile398Val, NP_001305034.1:p.Ile398Val, NP_001305044.1:p.Ile398Val, NP_001305042.1:p.Ile398Val, XP_011528830.1:p.Ile399Val, XP_016884586.1:p.Ile399Val, XP_016884585.1:p.Ile399Val, NP_001305040.1:p.Ile398Val, NP_001305043.1:p.Ile399Val, NP_001305041.1:p.Ile398Val, NP_001305038.1:p.Ile423Val

                8.

                rs1475693270 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:30554998 (GRCh38)
                  22:30950985 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:30554997:C:T
                  Gene:
                  GAL3ST1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000022.11:g.30554998C>T, NC_000022.10:g.30950985C>T, NM_004861.3:c.1227G>A, NM_004861.2:c.1227G>A, NM_004861.1:c.1227G>A, XM_011530522.3:c.1230G>A, XM_011530522.2:c.1230G>A, XM_011530522.1:c.1230G>A, XM_011530518.3:c.1305G>A, XM_011530518.2:c.1308G>A, XM_011530518.1:c.1308G>A, NM_001318104.2:c.1227G>A, NM_001318104.1:c.1227G>A, NM_001318106.2:c.1227G>A, NM_001318106.1:c.1227G>A, NM_001318107.2:c.1230G>A, NM_001318107.1:c.1230G>A, NM_001318108.2:c.1227G>A, NM_001318108.1:c.1227G>A, NM_001318116.2:c.1227G>A, NM_001318116.1:c.1227G>A, NM_001318103.2:c.1227G>A, NM_001318103.1:c.1227G>A, NM_001318110.2:c.1227G>A, NM_001318110.1:c.1227G>A, NM_001318105.2:c.1227G>A, NM_001318105.1:c.1227G>A, NM_001318115.2:c.1227G>A, NM_001318115.1:c.1227G>A, NM_001318113.2:c.1227G>A, NM_001318113.1:c.1227G>A, XM_011530528.2:c.1230G>A, XM_011530528.1:c.1230G>A, XM_017029097.2:c.1230G>A, XM_017029097.1:c.1230G>A, XM_017029096.2:c.1230G>A, XM_017029096.1:c.1230G>A, NM_001318111.2:c.1227G>A, NM_001318111.1:c.1227G>A, NM_001318114.2:c.1230G>A, NM_001318114.1:c.1230G>A, NM_001318112.2:c.1227G>A, NM_001318112.1:c.1227G>A, NM_001318109.1:c.1302G>A, NP_004852.1:p.Trp409Ter, XP_011528824.1:p.Trp410Ter, XP_011528820.2:p.Trp435Ter, NP_001305033.1:p.Trp409Ter, NP_001305035.1:p.Trp409Ter, NP_001305036.1:p.Trp410Ter, NP_001305037.1:p.Trp409Ter, NP_001305045.1:p.Trp409Ter, NP_001305032.1:p.Trp409Ter, NP_001305039.1:p.Trp409Ter, NP_001305034.1:p.Trp409Ter, NP_001305044.1:p.Trp409Ter, NP_001305042.1:p.Trp409Ter, XP_011528830.1:p.Trp410Ter, XP_016884586.1:p.Trp410Ter, XP_016884585.1:p.Trp410Ter, NP_001305040.1:p.Trp409Ter, NP_001305043.1:p.Trp410Ter, NP_001305041.1:p.Trp409Ter, NP_001305038.1:p.Trp434Ter

                  9.

                  rs1473950102 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:30555253 (GRCh38)
                    22:30951240 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:30555252:C:T
                    Gene:
                    GAL3ST1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    HGVS:
                    NC_000022.11:g.30555253C>T, NC_000022.10:g.30951240C>T, NM_004861.3:c.972G>A, NM_004861.2:c.972G>A, NM_004861.1:c.972G>A, XM_011530522.3:c.975G>A, XM_011530522.2:c.975G>A, XM_011530522.1:c.975G>A, XM_011530518.3:c.1050G>A, XM_011530518.2:c.1053G>A, XM_011530518.1:c.1053G>A, NM_001318104.2:c.972G>A, NM_001318104.1:c.972G>A, NM_001318106.2:c.972G>A, NM_001318106.1:c.972G>A, NM_001318107.2:c.975G>A, NM_001318107.1:c.975G>A, NM_001318108.2:c.972G>A, NM_001318108.1:c.972G>A, NM_001318116.2:c.972G>A, NM_001318116.1:c.972G>A, NM_001318103.2:c.972G>A, NM_001318103.1:c.972G>A, NM_001318110.2:c.972G>A, NM_001318110.1:c.972G>A, NM_001318105.2:c.972G>A, NM_001318105.1:c.972G>A, NM_001318115.2:c.972G>A, NM_001318115.1:c.972G>A, NM_001318113.2:c.972G>A, NM_001318113.1:c.972G>A, XM_011530528.2:c.975G>A, XM_011530528.1:c.975G>A, XM_017029097.2:c.975G>A, XM_017029097.1:c.975G>A, XM_017029096.2:c.975G>A, XM_017029096.1:c.975G>A, NM_001318111.2:c.972G>A, NM_001318111.1:c.972G>A, NM_001318114.2:c.975G>A, NM_001318114.1:c.975G>A, NM_001318112.2:c.972G>A, NM_001318112.1:c.972G>A, NM_001318109.1:c.1047G>A

                    10.

                    rs1473899527 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:30555907 (GRCh38)
                      22:30951894 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:30555906:G:A
                      Gene:
                      GAL3ST1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by cluster
                      HGVS:
                      NC_000022.11:g.30555907G>A, NC_000022.10:g.30951894G>A, NM_004861.3:c.318C>T, NM_004861.2:c.318C>T, NM_004861.1:c.318C>T, XM_011530522.3:c.321C>T, XM_011530522.2:c.321C>T, XM_011530522.1:c.321C>T, XM_011530518.3:c.396C>T, XM_011530518.2:c.399C>T, XM_011530518.1:c.399C>T, NM_001318104.2:c.318C>T, NM_001318104.1:c.318C>T, NM_001318106.2:c.318C>T, NM_001318106.1:c.318C>T, NM_001318107.2:c.321C>T, NM_001318107.1:c.321C>T, NM_001318108.2:c.318C>T, NM_001318108.1:c.318C>T, NM_001318116.2:c.318C>T, NM_001318116.1:c.318C>T, NM_001318103.2:c.318C>T, NM_001318103.1:c.318C>T, NM_001318110.2:c.318C>T, NM_001318110.1:c.318C>T, NM_001318105.2:c.318C>T, NM_001318105.1:c.318C>T, NM_001318115.2:c.318C>T, NM_001318115.1:c.318C>T, NM_001318113.2:c.318C>T, NM_001318113.1:c.318C>T, XM_011530528.2:c.321C>T, XM_011530528.1:c.321C>T, XM_017029097.2:c.321C>T, XM_017029097.1:c.321C>T, XM_017029096.2:c.321C>T, XM_017029096.1:c.321C>T, NM_001318111.2:c.318C>T, NM_001318111.1:c.318C>T, NM_001318114.2:c.321C>T, NM_001318114.1:c.321C>T, NM_001318112.2:c.318C>T, NM_001318112.1:c.318C>T, NM_001318109.1:c.393C>T

                      11.

                      rs1472838461 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:30555576 (GRCh38)
                        22:30951563 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:30555575:G:A
                        Gene:
                        GAL3ST1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000224/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000223/1 (Estonian)
                        HGVS:
                        NC_000022.11:g.30555576G>A, NC_000022.10:g.30951563G>A, NM_004861.3:c.649C>T, NM_004861.2:c.649C>T, NM_004861.1:c.649C>T, XM_011530522.3:c.652C>T, XM_011530522.2:c.652C>T, XM_011530522.1:c.652C>T, XM_011530518.3:c.727C>T, XM_011530518.2:c.730C>T, XM_011530518.1:c.730C>T, NM_001318104.2:c.649C>T, NM_001318104.1:c.649C>T, NM_001318106.2:c.649C>T, NM_001318106.1:c.649C>T, NM_001318107.2:c.652C>T, NM_001318107.1:c.652C>T, NM_001318108.2:c.649C>T, NM_001318108.1:c.649C>T, NM_001318116.2:c.649C>T, NM_001318116.1:c.649C>T, NM_001318103.2:c.649C>T, NM_001318103.1:c.649C>T, NM_001318110.2:c.649C>T, NM_001318110.1:c.649C>T, NM_001318105.2:c.649C>T, NM_001318105.1:c.649C>T, NM_001318115.2:c.649C>T, NM_001318115.1:c.649C>T, NM_001318113.2:c.649C>T, NM_001318113.1:c.649C>T, XM_011530528.2:c.652C>T, XM_011530528.1:c.652C>T, XM_017029097.2:c.652C>T, XM_017029097.1:c.652C>T, XM_017029096.2:c.652C>T, XM_017029096.1:c.652C>T, NM_001318111.2:c.649C>T, NM_001318111.1:c.649C>T, NM_001318114.2:c.652C>T, NM_001318114.1:c.652C>T, NM_001318112.2:c.649C>T, NM_001318112.1:c.649C>T, NM_001318109.1:c.724C>T

                        12.

                        rs1467884299 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          22:30555451 (GRCh38)
                          22:30951438 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:30555450:C:T
                          Gene:
                          GAL3ST1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          HGVS:
                          NC_000022.11:g.30555451C>T, NC_000022.10:g.30951438C>T, NM_004861.3:c.774G>A, NM_004861.2:c.774G>A, NM_004861.1:c.774G>A, XM_011530522.3:c.777G>A, XM_011530522.2:c.777G>A, XM_011530522.1:c.777G>A, XM_011530518.3:c.852G>A, XM_011530518.2:c.855G>A, XM_011530518.1:c.855G>A, NM_001318104.2:c.774G>A, NM_001318104.1:c.774G>A, NM_001318106.2:c.774G>A, NM_001318106.1:c.774G>A, NM_001318107.2:c.777G>A, NM_001318107.1:c.777G>A, NM_001318108.2:c.774G>A, NM_001318108.1:c.774G>A, NM_001318116.2:c.774G>A, NM_001318116.1:c.774G>A, NM_001318103.2:c.774G>A, NM_001318103.1:c.774G>A, NM_001318110.2:c.774G>A, NM_001318110.1:c.774G>A, NM_001318105.2:c.774G>A, NM_001318105.1:c.774G>A, NM_001318115.2:c.774G>A, NM_001318115.1:c.774G>A, NM_001318113.2:c.774G>A, NM_001318113.1:c.774G>A, XM_011530528.2:c.777G>A, XM_011530528.1:c.777G>A, XM_017029097.2:c.777G>A, XM_017029097.1:c.777G>A, XM_017029096.2:c.777G>A, XM_017029096.1:c.777G>A, NM_001318111.2:c.774G>A, NM_001318111.1:c.774G>A, NM_001318114.2:c.777G>A, NM_001318114.1:c.777G>A, NM_001318112.2:c.774G>A, NM_001318112.1:c.774G>A, NM_001318109.1:c.849G>A

                          13.

                          rs1467809050 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            22:30556079 (GRCh38)
                            22:30952066 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:30556078:G:A
                            Gene:
                            GAL3ST1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_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_000022.11:g.30556079G>A, NC_000022.10:g.30952066G>A, NM_004861.3:c.146C>T, NM_004861.2:c.146C>T, NM_004861.1:c.146C>T, XM_011530522.3:c.149C>T, XM_011530522.2:c.149C>T, XM_011530522.1:c.149C>T, XM_011530518.3:c.224C>T, XM_011530518.2:c.227C>T, XM_011530518.1:c.227C>T, NM_001318104.2:c.146C>T, NM_001318104.1:c.146C>T, NM_001318106.2:c.146C>T, NM_001318106.1:c.146C>T, NM_001318107.2:c.149C>T, NM_001318107.1:c.149C>T, NM_001318108.2:c.146C>T, NM_001318108.1:c.146C>T, NM_001318116.2:c.146C>T, NM_001318116.1:c.146C>T, NM_001318103.2:c.146C>T, NM_001318103.1:c.146C>T, NM_001318110.2:c.146C>T, NM_001318110.1:c.146C>T, NM_001318105.2:c.146C>T, NM_001318105.1:c.146C>T, NM_001318115.2:c.146C>T, NM_001318115.1:c.146C>T, NM_001318113.2:c.146C>T, NM_001318113.1:c.146C>T, XM_011530528.2:c.149C>T, XM_011530528.1:c.149C>T, XM_017029097.2:c.149C>T, XM_017029097.1:c.149C>T, XM_017029096.2:c.149C>T, XM_017029096.1:c.149C>T, NM_001318111.2:c.146C>T, NM_001318111.1:c.146C>T, NM_001318114.2:c.149C>T, NM_001318114.1:c.149C>T, NM_001318112.2:c.146C>T, NM_001318112.1:c.146C>T, NM_001318109.1:c.221C>T, NP_004852.1:p.Ala49Val, XP_011528824.1:p.Ala50Val, XP_011528820.2:p.Ala75Val, NP_001305033.1:p.Ala49Val, NP_001305035.1:p.Ala49Val, NP_001305036.1:p.Ala50Val, NP_001305037.1:p.Ala49Val, NP_001305045.1:p.Ala49Val, NP_001305032.1:p.Ala49Val, NP_001305039.1:p.Ala49Val, NP_001305034.1:p.Ala49Val, NP_001305044.1:p.Ala49Val, NP_001305042.1:p.Ala49Val, XP_011528830.1:p.Ala50Val, XP_016884586.1:p.Ala50Val, XP_016884585.1:p.Ala50Val, NP_001305040.1:p.Ala49Val, NP_001305043.1:p.Ala50Val, NP_001305041.1:p.Ala49Val, NP_001305038.1:p.Ala74Val

                            14.

                            rs1458027588 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              22:30555536 (GRCh38)
                              22:30951523 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:30555535:G:C
                              Gene:
                              GAL3ST1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000022.11:g.30555536G>C, NC_000022.10:g.30951523G>C, NM_004861.3:c.689C>G, NM_004861.2:c.689C>G, NM_004861.1:c.689C>G, XM_011530522.3:c.692C>G, XM_011530522.2:c.692C>G, XM_011530522.1:c.692C>G, XM_011530518.3:c.767C>G, XM_011530518.2:c.770C>G, XM_011530518.1:c.770C>G, NM_001318104.2:c.689C>G, NM_001318104.1:c.689C>G, NM_001318106.2:c.689C>G, NM_001318106.1:c.689C>G, NM_001318107.2:c.692C>G, NM_001318107.1:c.692C>G, NM_001318108.2:c.689C>G, NM_001318108.1:c.689C>G, NM_001318116.2:c.689C>G, NM_001318116.1:c.689C>G, NM_001318103.2:c.689C>G, NM_001318103.1:c.689C>G, NM_001318110.2:c.689C>G, NM_001318110.1:c.689C>G, NM_001318105.2:c.689C>G, NM_001318105.1:c.689C>G, NM_001318115.2:c.689C>G, NM_001318115.1:c.689C>G, NM_001318113.2:c.689C>G, NM_001318113.1:c.689C>G, XM_011530528.2:c.692C>G, XM_011530528.1:c.692C>G, XM_017029097.2:c.692C>G, XM_017029097.1:c.692C>G, XM_017029096.2:c.692C>G, XM_017029096.1:c.692C>G, NM_001318111.2:c.689C>G, NM_001318111.1:c.689C>G, NM_001318114.2:c.692C>G, NM_001318114.1:c.692C>G, NM_001318112.2:c.689C>G, NM_001318112.1:c.689C>G, NM_001318109.1:c.764C>G, NP_004852.1:p.Pro230Arg, XP_011528824.1:p.Pro231Arg, XP_011528820.2:p.Pro256Arg, NP_001305033.1:p.Pro230Arg, NP_001305035.1:p.Pro230Arg, NP_001305036.1:p.Pro231Arg, NP_001305037.1:p.Pro230Arg, NP_001305045.1:p.Pro230Arg, NP_001305032.1:p.Pro230Arg, NP_001305039.1:p.Pro230Arg, NP_001305034.1:p.Pro230Arg, NP_001305044.1:p.Pro230Arg, NP_001305042.1:p.Pro230Arg, XP_011528830.1:p.Pro231Arg, XP_016884586.1:p.Pro231Arg, XP_016884585.1:p.Pro231Arg, NP_001305040.1:p.Pro230Arg, NP_001305043.1:p.Pro231Arg, NP_001305041.1:p.Pro230Arg, NP_001305038.1:p.Pro255Arg

                              15.

                              rs1453415355 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:30555550 (GRCh38)
                                22:30951537 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:30555549:G:A
                                Gene:
                                GAL3ST1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000022.11:g.30555550G>A, NC_000022.10:g.30951537G>A, NM_004861.3:c.675C>T, NM_004861.2:c.675C>T, NM_004861.1:c.675C>T, XM_011530522.3:c.678C>T, XM_011530522.2:c.678C>T, XM_011530522.1:c.678C>T, XM_011530518.3:c.753C>T, XM_011530518.2:c.756C>T, XM_011530518.1:c.756C>T, NM_001318104.2:c.675C>T, NM_001318104.1:c.675C>T, NM_001318106.2:c.675C>T, NM_001318106.1:c.675C>T, NM_001318107.2:c.678C>T, NM_001318107.1:c.678C>T, NM_001318108.2:c.675C>T, NM_001318108.1:c.675C>T, NM_001318116.2:c.675C>T, NM_001318116.1:c.675C>T, NM_001318103.2:c.675C>T, NM_001318103.1:c.675C>T, NM_001318110.2:c.675C>T, NM_001318110.1:c.675C>T, NM_001318105.2:c.675C>T, NM_001318105.1:c.675C>T, NM_001318115.2:c.675C>T, NM_001318115.1:c.675C>T, NM_001318113.2:c.675C>T, NM_001318113.1:c.675C>T, XM_011530528.2:c.678C>T, XM_011530528.1:c.678C>T, XM_017029097.2:c.678C>T, XM_017029097.1:c.678C>T, XM_017029096.2:c.678C>T, XM_017029096.1:c.678C>T, NM_001318111.2:c.675C>T, NM_001318111.1:c.675C>T, NM_001318114.2:c.678C>T, NM_001318114.1:c.678C>T, NM_001318112.2:c.675C>T, NM_001318112.1:c.675C>T, NM_001318109.1:c.750C>T

                                16.

                                rs1452887016 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  22:30555691 (GRCh38)
                                  22:30951678 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:30555690:C:A
                                  Gene:
                                  GAL3ST1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000056/2 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000022.11:g.30555691C>A, NC_000022.10:g.30951678C>A, NM_004861.3:c.534G>T, NM_004861.2:c.534G>T, NM_004861.1:c.534G>T, XM_011530522.3:c.537G>T, XM_011530522.2:c.537G>T, XM_011530522.1:c.537G>T, XM_011530518.3:c.612G>T, XM_011530518.2:c.615G>T, XM_011530518.1:c.615G>T, NM_001318104.2:c.534G>T, NM_001318104.1:c.534G>T, NM_001318106.2:c.534G>T, NM_001318106.1:c.534G>T, NM_001318107.2:c.537G>T, NM_001318107.1:c.537G>T, NM_001318108.2:c.534G>T, NM_001318108.1:c.534G>T, NM_001318116.2:c.534G>T, NM_001318116.1:c.534G>T, NM_001318103.2:c.534G>T, NM_001318103.1:c.534G>T, NM_001318110.2:c.534G>T, NM_001318110.1:c.534G>T, NM_001318105.2:c.534G>T, NM_001318105.1:c.534G>T, NM_001318115.2:c.534G>T, NM_001318115.1:c.534G>T, NM_001318113.2:c.534G>T, NM_001318113.1:c.534G>T, XM_011530528.2:c.537G>T, XM_011530528.1:c.537G>T, XM_017029097.2:c.537G>T, XM_017029097.1:c.537G>T, XM_017029096.2:c.537G>T, XM_017029096.1:c.537G>T, NM_001318111.2:c.534G>T, NM_001318111.1:c.534G>T, NM_001318114.2:c.537G>T, NM_001318114.1:c.537G>T, NM_001318112.2:c.534G>T, NM_001318112.1:c.534G>T, NM_001318109.1:c.609G>T

                                  17.

                                  rs1451658576 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:30555163 (GRCh38)
                                    22:30951150 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:30555162:G:A
                                    Gene:
                                    GAL3ST1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,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)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000022.11:g.30555163G>A, NC_000022.10:g.30951150G>A, NM_004861.3:c.1062C>T, NM_004861.2:c.1062C>T, NM_004861.1:c.1062C>T, XM_011530522.3:c.1065C>T, XM_011530522.2:c.1065C>T, XM_011530522.1:c.1065C>T, XM_011530518.3:c.1140C>T, XM_011530518.2:c.1143C>T, XM_011530518.1:c.1143C>T, NM_001318104.2:c.1062C>T, NM_001318104.1:c.1062C>T, NM_001318106.2:c.1062C>T, NM_001318106.1:c.1062C>T, NM_001318107.2:c.1065C>T, NM_001318107.1:c.1065C>T, NM_001318108.2:c.1062C>T, NM_001318108.1:c.1062C>T, NM_001318116.2:c.1062C>T, NM_001318116.1:c.1062C>T, NM_001318103.2:c.1062C>T, NM_001318103.1:c.1062C>T, NM_001318110.2:c.1062C>T, NM_001318110.1:c.1062C>T, NM_001318105.2:c.1062C>T, NM_001318105.1:c.1062C>T, NM_001318115.2:c.1062C>T, NM_001318115.1:c.1062C>T, NM_001318113.2:c.1062C>T, NM_001318113.1:c.1062C>T, XM_011530528.2:c.1065C>T, XM_011530528.1:c.1065C>T, XM_017029097.2:c.1065C>T, XM_017029097.1:c.1065C>T, XM_017029096.2:c.1065C>T, XM_017029096.1:c.1065C>T, NM_001318111.2:c.1062C>T, NM_001318111.1:c.1062C>T, NM_001318114.2:c.1065C>T, NM_001318114.1:c.1065C>T, NM_001318112.2:c.1062C>T, NM_001318112.1:c.1062C>T, NM_001318109.1:c.1137C>T

                                    18.

                                    rs1450153256 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      22:30555725 (GRCh38)
                                      22:30951712 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:30555724:G:A
                                      Gene:
                                      GAL3ST1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000022.11:g.30555725G>A, NC_000022.10:g.30951712G>A, NM_004861.3:c.500C>T, NM_004861.2:c.500C>T, NM_004861.1:c.500C>T, XM_011530522.3:c.503C>T, XM_011530522.2:c.503C>T, XM_011530522.1:c.503C>T, XM_011530518.3:c.578C>T, XM_011530518.2:c.581C>T, XM_011530518.1:c.581C>T, NM_001318104.2:c.500C>T, NM_001318104.1:c.500C>T, NM_001318106.2:c.500C>T, NM_001318106.1:c.500C>T, NM_001318107.2:c.503C>T, NM_001318107.1:c.503C>T, NM_001318108.2:c.500C>T, NM_001318108.1:c.500C>T, NM_001318116.2:c.500C>T, NM_001318116.1:c.500C>T, NM_001318103.2:c.500C>T, NM_001318103.1:c.500C>T, NM_001318110.2:c.500C>T, NM_001318110.1:c.500C>T, NM_001318105.2:c.500C>T, NM_001318105.1:c.500C>T, NM_001318115.2:c.500C>T, NM_001318115.1:c.500C>T, NM_001318113.2:c.500C>T, NM_001318113.1:c.500C>T, XM_011530528.2:c.503C>T, XM_011530528.1:c.503C>T, XM_017029097.2:c.503C>T, XM_017029097.1:c.503C>T, XM_017029096.2:c.503C>T, XM_017029096.1:c.503C>T, NM_001318111.2:c.500C>T, NM_001318111.1:c.500C>T, NM_001318114.2:c.503C>T, NM_001318114.1:c.503C>T, NM_001318112.2:c.500C>T, NM_001318112.1:c.500C>T, NM_001318109.1:c.575C>T, NP_004852.1:p.Ala167Val, XP_011528824.1:p.Ala168Val, XP_011528820.2:p.Ala193Val, NP_001305033.1:p.Ala167Val, NP_001305035.1:p.Ala167Val, NP_001305036.1:p.Ala168Val, NP_001305037.1:p.Ala167Val, NP_001305045.1:p.Ala167Val, NP_001305032.1:p.Ala167Val, NP_001305039.1:p.Ala167Val, NP_001305034.1:p.Ala167Val, NP_001305044.1:p.Ala167Val, NP_001305042.1:p.Ala167Val, XP_011528830.1:p.Ala168Val, XP_016884586.1:p.Ala168Val, XP_016884585.1:p.Ala168Val, NP_001305040.1:p.Ala167Val, NP_001305043.1:p.Ala168Val, NP_001305041.1:p.Ala167Val, NP_001305038.1:p.Ala192Val

                                      19.

                                      rs1449927640 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        22:30555198 (GRCh38)
                                        22:30951185 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:30555197:T:G
                                        Gene:
                                        GAL3ST1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000048/1 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.30555198T>G, NC_000022.10:g.30951185T>G, NM_004861.3:c.1027A>C, NM_004861.2:c.1027A>C, NM_004861.1:c.1027A>C, XM_011530522.3:c.1030A>C, XM_011530522.2:c.1030A>C, XM_011530522.1:c.1030A>C, XM_011530518.3:c.1105A>C, XM_011530518.2:c.1108A>C, XM_011530518.1:c.1108A>C, NM_001318104.2:c.1027A>C, NM_001318104.1:c.1027A>C, NM_001318106.2:c.1027A>C, NM_001318106.1:c.1027A>C, NM_001318107.2:c.1030A>C, NM_001318107.1:c.1030A>C, NM_001318108.2:c.1027A>C, NM_001318108.1:c.1027A>C, NM_001318116.2:c.1027A>C, NM_001318116.1:c.1027A>C, NM_001318103.2:c.1027A>C, NM_001318103.1:c.1027A>C, NM_001318110.2:c.1027A>C, NM_001318110.1:c.1027A>C, NM_001318105.2:c.1027A>C, NM_001318105.1:c.1027A>C, NM_001318115.2:c.1027A>C, NM_001318115.1:c.1027A>C, NM_001318113.2:c.1027A>C, NM_001318113.1:c.1027A>C, XM_011530528.2:c.1030A>C, XM_011530528.1:c.1030A>C, XM_017029097.2:c.1030A>C, XM_017029097.1:c.1030A>C, XM_017029096.2:c.1030A>C, XM_017029096.1:c.1030A>C, NM_001318111.2:c.1027A>C, NM_001318111.1:c.1027A>C, NM_001318114.2:c.1030A>C, NM_001318114.1:c.1030A>C, NM_001318112.2:c.1027A>C, NM_001318112.1:c.1027A>C, NM_001318109.1:c.1102A>C, NP_004852.1:p.Thr343Pro, XP_011528824.1:p.Thr344Pro, XP_011528820.2:p.Thr369Pro, NP_001305033.1:p.Thr343Pro, NP_001305035.1:p.Thr343Pro, NP_001305036.1:p.Thr344Pro, NP_001305037.1:p.Thr343Pro, NP_001305045.1:p.Thr343Pro, NP_001305032.1:p.Thr343Pro, NP_001305039.1:p.Thr343Pro, NP_001305034.1:p.Thr343Pro, NP_001305044.1:p.Thr343Pro, NP_001305042.1:p.Thr343Pro, XP_011528830.1:p.Thr344Pro, XP_016884586.1:p.Thr344Pro, XP_016884585.1:p.Thr344Pro, NP_001305040.1:p.Thr343Pro, NP_001305043.1:p.Thr344Pro, NP_001305041.1:p.Thr343Pro, NP_001305038.1:p.Thr368Pro

                                        20.

                                        rs1448739050 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:30555237 (GRCh38)
                                          22:30951224 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:30555236:C:T
                                          Gene:
                                          GAL3ST1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.30555237C>T, NC_000022.10:g.30951224C>T, NM_004861.3:c.988G>A, NM_004861.2:c.988G>A, NM_004861.1:c.988G>A, XM_011530522.3:c.991G>A, XM_011530522.2:c.991G>A, XM_011530522.1:c.991G>A, XM_011530518.3:c.1066G>A, XM_011530518.2:c.1069G>A, XM_011530518.1:c.1069G>A, NM_001318104.2:c.988G>A, NM_001318104.1:c.988G>A, NM_001318106.2:c.988G>A, NM_001318106.1:c.988G>A, NM_001318107.2:c.991G>A, NM_001318107.1:c.991G>A, NM_001318108.2:c.988G>A, NM_001318108.1:c.988G>A, NM_001318116.2:c.988G>A, NM_001318116.1:c.988G>A, NM_001318103.2:c.988G>A, NM_001318103.1:c.988G>A, NM_001318110.2:c.988G>A, NM_001318110.1:c.988G>A, NM_001318105.2:c.988G>A, NM_001318105.1:c.988G>A, NM_001318115.2:c.988G>A, NM_001318115.1:c.988G>A, NM_001318113.2:c.988G>A, NM_001318113.1:c.988G>A, XM_011530528.2:c.991G>A, XM_011530528.1:c.991G>A, XM_017029097.2:c.991G>A, XM_017029097.1:c.991G>A, XM_017029096.2:c.991G>A, XM_017029096.1:c.991G>A, NM_001318111.2:c.988G>A, NM_001318111.1:c.988G>A, NM_001318114.2:c.991G>A, NM_001318114.1:c.991G>A, NM_001318112.2:c.988G>A, NM_001318112.1:c.988G>A, NM_001318109.1:c.1063G>A, NP_004852.1:p.Glu330Lys, XP_011528824.1:p.Glu331Lys, XP_011528820.2:p.Glu356Lys, NP_001305033.1:p.Glu330Lys, NP_001305035.1:p.Glu330Lys, NP_001305036.1:p.Glu331Lys, NP_001305037.1:p.Glu330Lys, NP_001305045.1:p.Glu330Lys, NP_001305032.1:p.Glu330Lys, NP_001305039.1:p.Glu330Lys, NP_001305034.1:p.Glu330Lys, NP_001305044.1:p.Glu330Lys, NP_001305042.1:p.Glu330Lys, XP_011528830.1:p.Glu331Lys, XP_016884586.1:p.Glu331Lys, XP_016884585.1:p.Glu331Lys, NP_001305040.1:p.Glu330Lys, NP_001305043.1:p.Glu331Lys, NP_001305041.1:p.Glu330Lys, NP_001305038.1:p.Glu355Lys

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