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Items: 1 to 20 of 661

1.

rs1489339124 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    12:51377312 (GRCh38)
    12:51771096 (GRCh37)
    Canonical SPDI:
    NC_000012.12:51377311:T:C,NC_000012.12:51377311:T:G
    Gene:
    GALNT6 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (GnomAD_exomes)
    C=0.000177/3 (TOMMO)
    HGVS:
    NC_000012.12:g.51377312T>C, NC_000012.12:g.51377312T>G, NC_000012.11:g.51771096T>C, NC_000012.11:g.51771096T>G, NM_007210.4:c.547A>G, NM_007210.4:c.547A>C, NM_007210.3:c.547A>G, NM_007210.3:c.547A>C, XM_017018745.3:c.547A>G, XM_017018745.3:c.547A>C, XM_017018745.2:c.547A>G, XM_017018745.2:c.547A>C, XM_017018745.1:c.547A>G, XM_017018745.1:c.547A>C, XM_011537822.3:c.547A>G, XM_011537822.3:c.547A>C, XM_011537822.2:c.547A>G, XM_011537822.2:c.547A>C, XM_011537822.1:c.547A>G, XM_011537822.1:c.547A>C, XM_006719214.3:c.547A>G, XM_006719214.3:c.547A>C, XM_006719214.2:c.547A>G, XM_006719214.2:c.547A>C, XM_006719214.1:c.547A>G, XM_006719214.1:c.547A>C, XM_024448817.2:c.547A>G, XM_024448817.2:c.547A>C, XM_024448817.1:c.547A>G, XM_024448817.1:c.547A>C, XM_024448814.2:c.547A>G, XM_024448814.2:c.547A>C, XM_024448814.1:c.547A>G, XM_024448814.1:c.547A>C, XM_024448811.2:c.547A>G, XM_024448811.2:c.547A>C, XM_024448811.1:c.547A>G, XM_024448811.1:c.547A>C, XM_024448816.2:c.547A>G, XM_024448816.2:c.547A>C, XM_024448816.1:c.547A>G, XM_024448816.1:c.547A>C, XM_024448813.2:c.547A>G, XM_024448813.2:c.547A>C, XM_024448813.1:c.547A>G, XM_024448813.1:c.547A>C, XM_024448815.2:c.547A>G, XM_024448815.2:c.547A>C, XM_024448815.1:c.547A>G, XM_024448815.1:c.547A>C, XM_005268607.2:c.547A>G, XM_005268607.2:c.547A>C, XM_005268607.1:c.547A>G, XM_005268607.1:c.547A>C, XM_047428180.1:c.547A>G, XM_047428180.1:c.547A>C, XM_047428174.1:c.547A>G, XM_047428174.1:c.547A>C, XM_047428182.1:c.547A>G, XM_047428182.1:c.547A>C, XM_047428179.1:c.547A>G, XM_047428179.1:c.547A>C, XM_047428178.1:c.547A>G, XM_047428178.1:c.547A>C, XM_047428177.1:c.547A>G, XM_047428177.1:c.547A>C, XM_047428175.1:c.547A>G, XM_047428175.1:c.547A>C, XM_047428181.1:c.547A>G, XM_047428181.1:c.547A>C, XM_047428176.1:c.547A>G, XM_047428176.1:c.547A>C, XM_047428183.1:c.547A>G, XM_047428183.1:c.547A>C, NP_009141.2:p.Ile183Val, NP_009141.2:p.Ile183Leu, XP_016874234.1:p.Ile183Val, XP_016874234.1:p.Ile183Leu, XP_011536124.1:p.Ile183Val, XP_011536124.1:p.Ile183Leu, XP_006719277.1:p.Ile183Val, XP_006719277.1:p.Ile183Leu, XP_024304585.1:p.Ile183Val, XP_024304585.1:p.Ile183Leu, XP_024304582.1:p.Ile183Val, XP_024304582.1:p.Ile183Leu, XP_024304579.1:p.Ile183Val, XP_024304579.1:p.Ile183Leu, XP_024304584.1:p.Ile183Val, XP_024304584.1:p.Ile183Leu, XP_024304581.1:p.Ile183Val, XP_024304581.1:p.Ile183Leu, XP_024304583.1:p.Ile183Val, XP_024304583.1:p.Ile183Leu, XP_005268664.1:p.Ile183Val, XP_005268664.1:p.Ile183Leu, XP_047284136.1:p.Ile183Val, XP_047284136.1:p.Ile183Leu, XP_047284130.1:p.Ile183Val, XP_047284130.1:p.Ile183Leu, XP_047284138.1:p.Ile183Val, XP_047284138.1:p.Ile183Leu, XP_047284135.1:p.Ile183Val, XP_047284135.1:p.Ile183Leu, XP_047284134.1:p.Ile183Val, XP_047284134.1:p.Ile183Leu, XP_047284133.1:p.Ile183Val, XP_047284133.1:p.Ile183Leu, XP_047284131.1:p.Ile183Val, XP_047284131.1:p.Ile183Leu, XP_047284137.1:p.Ile183Val, XP_047284137.1:p.Ile183Leu, XP_047284132.1:p.Ile183Val, XP_047284132.1:p.Ile183Leu, XP_047284139.1:p.Ile183Val, XP_047284139.1:p.Ile183Leu

    2.

    rs1487792609 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      12:51365524 (GRCh38)
      12:51759308 (GRCh37)
      Canonical SPDI:
      NC_000012.12:51365523:C:A,NC_000012.12:51365523:C:T
      Gene:
      GALNT6 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.51365524C>A, NC_000012.12:g.51365524C>T, NC_000012.11:g.51759308C>A, NC_000012.11:g.51759308C>T, NM_007210.4:c.720G>T, NM_007210.4:c.720G>A, NM_007210.3:c.720G>T, NM_007210.3:c.720G>A, XM_017018745.3:c.720G>T, XM_017018745.3:c.720G>A, XM_017018745.2:c.720G>T, XM_017018745.2:c.720G>A, XM_017018745.1:c.720G>T, XM_017018745.1:c.720G>A, XM_011537822.3:c.720G>T, XM_011537822.3:c.720G>A, XM_011537822.2:c.720G>T, XM_011537822.2:c.720G>A, XM_011537822.1:c.720G>T, XM_011537822.1:c.720G>A, XM_006719214.3:c.720G>T, XM_006719214.3:c.720G>A, XM_006719214.2:c.720G>T, XM_006719214.2:c.720G>A, XM_006719214.1:c.720G>T, XM_006719214.1:c.720G>A, XM_024448817.2:c.720G>T, XM_024448817.2:c.720G>A, XM_024448817.1:c.720G>T, XM_024448817.1:c.720G>A, XM_024448814.2:c.720G>T, XM_024448814.2:c.720G>A, XM_024448814.1:c.720G>T, XM_024448814.1:c.720G>A, XM_024448811.2:c.720G>T, XM_024448811.2:c.720G>A, XM_024448811.1:c.720G>T, XM_024448811.1:c.720G>A, XM_024448816.2:c.720G>T, XM_024448816.2:c.720G>A, XM_024448816.1:c.720G>T, XM_024448816.1:c.720G>A, XM_024448813.2:c.720G>T, XM_024448813.2:c.720G>A, XM_024448813.1:c.720G>T, XM_024448813.1:c.720G>A, XM_024448815.2:c.720G>T, XM_024448815.2:c.720G>A, XM_024448815.1:c.720G>T, XM_024448815.1:c.720G>A, XM_005268607.2:c.720G>T, XM_005268607.2:c.720G>A, XM_005268607.1:c.720G>T, XM_005268607.1:c.720G>A, XM_047428180.1:c.720G>T, XM_047428180.1:c.720G>A, XM_047428174.1:c.720G>T, XM_047428174.1:c.720G>A, XM_047428182.1:c.720G>T, XM_047428182.1:c.720G>A, XM_047428179.1:c.720G>T, XM_047428179.1:c.720G>A, XM_047428178.1:c.720G>T, XM_047428178.1:c.720G>A, XM_047428177.1:c.720G>T, XM_047428177.1:c.720G>A, XM_047428175.1:c.720G>T, XM_047428175.1:c.720G>A, XM_047428181.1:c.720G>T, XM_047428181.1:c.720G>A, XM_047428176.1:c.720G>T, XM_047428176.1:c.720G>A, XM_047428183.1:c.720G>T, XM_047428183.1:c.720G>A

      3.

      rs1487378379 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:51379563 (GRCh38)
        12:51773347 (GRCh37)
        Canonical SPDI:
        NC_000012.12:51379562:G:A
        Gene:
        GALNT6 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_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_000012.12:g.51379563G>A, NC_000012.11:g.51773347G>A, NM_007210.4:c.219C>T, NM_007210.3:c.219C>T, XM_017018745.3:c.219C>T, XM_017018745.2:c.219C>T, XM_017018745.1:c.219C>T, XM_011537822.3:c.219C>T, XM_011537822.2:c.219C>T, XM_011537822.1:c.219C>T, XM_006719214.3:c.219C>T, XM_006719214.2:c.219C>T, XM_006719214.1:c.219C>T, XM_024448817.2:c.219C>T, XM_024448817.1:c.219C>T, XM_024448814.2:c.219C>T, XM_024448814.1:c.219C>T, XM_024448811.2:c.219C>T, XM_024448811.1:c.219C>T, XM_024448816.2:c.219C>T, XM_024448816.1:c.219C>T, XM_024448813.2:c.219C>T, XM_024448813.1:c.219C>T, XM_024448815.2:c.219C>T, XM_024448815.1:c.219C>T, XM_005268607.2:c.219C>T, XM_005268607.1:c.219C>T, XM_047428180.1:c.219C>T, XM_047428174.1:c.219C>T, XM_047428182.1:c.219C>T, XM_047428179.1:c.219C>T, XM_047428178.1:c.219C>T, XM_047428177.1:c.219C>T, XM_047428175.1:c.219C>T, XM_047428181.1:c.219C>T, XM_047428176.1:c.219C>T, XM_047428183.1:c.219C>T

        4.

        rs1486781224 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:51379460 (GRCh38)
          12:51773244 (GRCh37)
          Canonical SPDI:
          NC_000012.12:51379459:G:A
          Gene:
          GALNT6 (Varview)
          Functional Consequence:
          coding_sequence_variant,stop_gained
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000012.12:g.51379460G>A, NC_000012.11:g.51773244G>A, NM_007210.4:c.322C>T, NM_007210.3:c.322C>T, XM_017018745.3:c.322C>T, XM_017018745.2:c.322C>T, XM_017018745.1:c.322C>T, XM_011537822.3:c.322C>T, XM_011537822.2:c.322C>T, XM_011537822.1:c.322C>T, XM_006719214.3:c.322C>T, XM_006719214.2:c.322C>T, XM_006719214.1:c.322C>T, XM_024448817.2:c.322C>T, XM_024448817.1:c.322C>T, XM_024448814.2:c.322C>T, XM_024448814.1:c.322C>T, XM_024448811.2:c.322C>T, XM_024448811.1:c.322C>T, XM_024448816.2:c.322C>T, XM_024448816.1:c.322C>T, XM_024448813.2:c.322C>T, XM_024448813.1:c.322C>T, XM_024448815.2:c.322C>T, XM_024448815.1:c.322C>T, XM_005268607.2:c.322C>T, XM_005268607.1:c.322C>T, XM_047428180.1:c.322C>T, XM_047428174.1:c.322C>T, XM_047428182.1:c.322C>T, XM_047428179.1:c.322C>T, XM_047428178.1:c.322C>T, XM_047428177.1:c.322C>T, XM_047428175.1:c.322C>T, XM_047428181.1:c.322C>T, XM_047428176.1:c.322C>T, XM_047428183.1:c.322C>T, NP_009141.2:p.Gln108Ter, XP_016874234.1:p.Gln108Ter, XP_011536124.1:p.Gln108Ter, XP_006719277.1:p.Gln108Ter, XP_024304585.1:p.Gln108Ter, XP_024304582.1:p.Gln108Ter, XP_024304579.1:p.Gln108Ter, XP_024304584.1:p.Gln108Ter, XP_024304581.1:p.Gln108Ter, XP_024304583.1:p.Gln108Ter, XP_005268664.1:p.Gln108Ter, XP_047284136.1:p.Gln108Ter, XP_047284130.1:p.Gln108Ter, XP_047284138.1:p.Gln108Ter, XP_047284135.1:p.Gln108Ter, XP_047284134.1:p.Gln108Ter, XP_047284133.1:p.Gln108Ter, XP_047284131.1:p.Gln108Ter, XP_047284137.1:p.Gln108Ter, XP_047284132.1:p.Gln108Ter, XP_047284139.1:p.Gln108Ter

          5.

          rs1481731053 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            12:51364141 (GRCh38)
            12:51757925 (GRCh37)
            Canonical SPDI:
            NC_000012.12:51364140:C:T
            Gene:
            GALNT6 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.51364141C>T, NC_000012.11:g.51757925C>T, NM_007210.4:c.1029G>A, NM_007210.3:c.1029G>A, XM_017018745.3:c.1029G>A, XM_017018745.2:c.1029G>A, XM_017018745.1:c.1029G>A, XM_011537822.3:c.1029G>A, XM_011537822.2:c.1029G>A, XM_011537822.1:c.1029G>A, XM_006719214.3:c.1029G>A, XM_006719214.2:c.1029G>A, XM_006719214.1:c.1029G>A, XM_024448817.2:c.1029G>A, XM_024448817.1:c.1029G>A, XM_024448814.2:c.1029G>A, XM_024448814.1:c.1029G>A, XM_024448811.2:c.1029G>A, XM_024448811.1:c.1029G>A, XM_024448816.2:c.1029G>A, XM_024448816.1:c.1029G>A, XM_024448813.2:c.1029G>A, XM_024448813.1:c.1029G>A, XM_024448815.2:c.1029G>A, XM_024448815.1:c.1029G>A, XM_005268607.2:c.1029G>A, XM_005268607.1:c.1029G>A, XM_047428180.1:c.1029G>A, XM_047428174.1:c.1029G>A, XM_047428182.1:c.1029G>A, XM_047428179.1:c.1029G>A, XM_047428178.1:c.1029G>A, XM_047428177.1:c.1029G>A, XM_047428175.1:c.1029G>A, XM_047428181.1:c.1029G>A, XM_047428176.1:c.1029G>A, XM_047428183.1:c.1029G>A

            6.

            rs1480179392 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              12:51359179 (GRCh38)
              12:51752963 (GRCh37)
              Canonical SPDI:
              NC_000012.12:51359178:T:G
              Gene:
              GALNT6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000012.12:g.51359179T>G, NC_000012.11:g.51752963T>G, NM_007210.4:c.1321A>C, NM_007210.3:c.1321A>C, XM_017018745.3:c.1321A>C, XM_017018745.2:c.1321A>C, XM_017018745.1:c.1321A>C, XM_011537822.3:c.1321A>C, XM_011537822.2:c.1321A>C, XM_011537822.1:c.1321A>C, XM_006719214.3:c.1321A>C, XM_006719214.2:c.1321A>C, XM_006719214.1:c.1321A>C, XM_024448817.2:c.1321A>C, XM_024448817.1:c.1321A>C, XM_024448814.2:c.1321A>C, XM_024448814.1:c.1321A>C, XM_024448811.2:c.1321A>C, XM_024448811.1:c.1321A>C, XM_024448816.2:c.1321A>C, XM_024448816.1:c.1321A>C, XM_024448813.2:c.1321A>C, XM_024448813.1:c.1321A>C, XM_024448815.2:c.1321A>C, XM_024448815.1:c.1321A>C, XM_005268607.2:c.1321A>C, XM_005268607.1:c.1321A>C, XM_047428180.1:c.1321A>C, XM_047428174.1:c.1321A>C, XM_047428182.1:c.1321A>C, XM_047428179.1:c.1321A>C, XM_047428178.1:c.1321A>C, XM_047428177.1:c.1321A>C, XM_047428175.1:c.1321A>C, XM_047428181.1:c.1321A>C, XM_047428176.1:c.1321A>C, XM_047428183.1:c.1321A>C, NP_009141.2:p.Lys441Gln, XP_016874234.1:p.Lys441Gln, XP_011536124.1:p.Lys441Gln, XP_006719277.1:p.Lys441Gln, XP_024304585.1:p.Lys441Gln, XP_024304582.1:p.Lys441Gln, XP_024304579.1:p.Lys441Gln, XP_024304584.1:p.Lys441Gln, XP_024304581.1:p.Lys441Gln, XP_024304583.1:p.Lys441Gln, XP_005268664.1:p.Lys441Gln, XP_047284136.1:p.Lys441Gln, XP_047284130.1:p.Lys441Gln, XP_047284138.1:p.Lys441Gln, XP_047284135.1:p.Lys441Gln, XP_047284134.1:p.Lys441Gln, XP_047284133.1:p.Lys441Gln, XP_047284131.1:p.Lys441Gln, XP_047284137.1:p.Lys441Gln, XP_047284132.1:p.Lys441Gln, XP_047284139.1:p.Lys441Gln

              7.

              rs1476427303 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                12:51359241 (GRCh38)
                12:51753025 (GRCh37)
                Canonical SPDI:
                NC_000012.12:51359240:C:A
                Gene:
                GALNT6 (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=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.51359241C>A, NC_000012.11:g.51753025C>A, NM_007210.4:c.1259G>T, NM_007210.3:c.1259G>T, XM_017018745.3:c.1259G>T, XM_017018745.2:c.1259G>T, XM_017018745.1:c.1259G>T, XM_011537822.3:c.1259G>T, XM_011537822.2:c.1259G>T, XM_011537822.1:c.1259G>T, XM_006719214.3:c.1259G>T, XM_006719214.2:c.1259G>T, XM_006719214.1:c.1259G>T, XM_024448817.2:c.1259G>T, XM_024448817.1:c.1259G>T, XM_024448814.2:c.1259G>T, XM_024448814.1:c.1259G>T, XM_024448811.2:c.1259G>T, XM_024448811.1:c.1259G>T, XM_024448816.2:c.1259G>T, XM_024448816.1:c.1259G>T, XM_024448813.2:c.1259G>T, XM_024448813.1:c.1259G>T, XM_024448815.2:c.1259G>T, XM_024448815.1:c.1259G>T, XM_005268607.2:c.1259G>T, XM_005268607.1:c.1259G>T, XM_047428180.1:c.1259G>T, XM_047428174.1:c.1259G>T, XM_047428182.1:c.1259G>T, XM_047428179.1:c.1259G>T, XM_047428178.1:c.1259G>T, XM_047428177.1:c.1259G>T, XM_047428175.1:c.1259G>T, XM_047428181.1:c.1259G>T, XM_047428176.1:c.1259G>T, XM_047428183.1:c.1259G>T, NP_009141.2:p.Gly420Val, XP_016874234.1:p.Gly420Val, XP_011536124.1:p.Gly420Val, XP_006719277.1:p.Gly420Val, XP_024304585.1:p.Gly420Val, XP_024304582.1:p.Gly420Val, XP_024304579.1:p.Gly420Val, XP_024304584.1:p.Gly420Val, XP_024304581.1:p.Gly420Val, XP_024304583.1:p.Gly420Val, XP_005268664.1:p.Gly420Val, XP_047284136.1:p.Gly420Val, XP_047284130.1:p.Gly420Val, XP_047284138.1:p.Gly420Val, XP_047284135.1:p.Gly420Val, XP_047284134.1:p.Gly420Val, XP_047284133.1:p.Gly420Val, XP_047284131.1:p.Gly420Val, XP_047284137.1:p.Gly420Val, XP_047284132.1:p.Gly420Val, XP_047284139.1:p.Gly420Val

                8.

                rs1472899856 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:51379504 (GRCh38)
                  12:51773288 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:51379503:A:G
                  Gene:
                  GALNT6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.51379504A>G, NC_000012.11:g.51773288A>G, NM_007210.4:c.278T>C, NM_007210.3:c.278T>C, XM_017018745.3:c.278T>C, XM_017018745.2:c.278T>C, XM_017018745.1:c.278T>C, XM_011537822.3:c.278T>C, XM_011537822.2:c.278T>C, XM_011537822.1:c.278T>C, XM_006719214.3:c.278T>C, XM_006719214.2:c.278T>C, XM_006719214.1:c.278T>C, XM_024448817.2:c.278T>C, XM_024448817.1:c.278T>C, XM_024448814.2:c.278T>C, XM_024448814.1:c.278T>C, XM_024448811.2:c.278T>C, XM_024448811.1:c.278T>C, XM_024448816.2:c.278T>C, XM_024448816.1:c.278T>C, XM_024448813.2:c.278T>C, XM_024448813.1:c.278T>C, XM_024448815.2:c.278T>C, XM_024448815.1:c.278T>C, XM_005268607.2:c.278T>C, XM_005268607.1:c.278T>C, XM_047428180.1:c.278T>C, XM_047428174.1:c.278T>C, XM_047428182.1:c.278T>C, XM_047428179.1:c.278T>C, XM_047428178.1:c.278T>C, XM_047428177.1:c.278T>C, XM_047428175.1:c.278T>C, XM_047428181.1:c.278T>C, XM_047428176.1:c.278T>C, XM_047428183.1:c.278T>C, NP_009141.2:p.Phe93Ser, XP_016874234.1:p.Phe93Ser, XP_011536124.1:p.Phe93Ser, XP_006719277.1:p.Phe93Ser, XP_024304585.1:p.Phe93Ser, XP_024304582.1:p.Phe93Ser, XP_024304579.1:p.Phe93Ser, XP_024304584.1:p.Phe93Ser, XP_024304581.1:p.Phe93Ser, XP_024304583.1:p.Phe93Ser, XP_005268664.1:p.Phe93Ser, XP_047284136.1:p.Phe93Ser, XP_047284130.1:p.Phe93Ser, XP_047284138.1:p.Phe93Ser, XP_047284135.1:p.Phe93Ser, XP_047284134.1:p.Phe93Ser, XP_047284133.1:p.Phe93Ser, XP_047284131.1:p.Phe93Ser, XP_047284137.1:p.Phe93Ser, XP_047284132.1:p.Phe93Ser, XP_047284139.1:p.Phe93Ser

                  9.

                  rs1471804946 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    12:51379302 (GRCh38)
                    12:51773086 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:51379301:G:T
                    Gene:
                    GALNT6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000012.12:g.51379302G>T, NC_000012.11:g.51773086G>T, NM_007210.4:c.480C>A, NM_007210.3:c.480C>A, XM_017018745.3:c.480C>A, XM_017018745.2:c.480C>A, XM_017018745.1:c.480C>A, XM_011537822.3:c.480C>A, XM_011537822.2:c.480C>A, XM_011537822.1:c.480C>A, XM_006719214.3:c.480C>A, XM_006719214.2:c.480C>A, XM_006719214.1:c.480C>A, XM_024448817.2:c.480C>A, XM_024448817.1:c.480C>A, XM_024448814.2:c.480C>A, XM_024448814.1:c.480C>A, XM_024448811.2:c.480C>A, XM_024448811.1:c.480C>A, XM_024448816.2:c.480C>A, XM_024448816.1:c.480C>A, XM_024448813.2:c.480C>A, XM_024448813.1:c.480C>A, XM_024448815.2:c.480C>A, XM_024448815.1:c.480C>A, XM_005268607.2:c.480C>A, XM_005268607.1:c.480C>A, XM_047428180.1:c.480C>A, XM_047428174.1:c.480C>A, XM_047428182.1:c.480C>A, XM_047428179.1:c.480C>A, XM_047428178.1:c.480C>A, XM_047428177.1:c.480C>A, XM_047428175.1:c.480C>A, XM_047428181.1:c.480C>A, XM_047428176.1:c.480C>A, XM_047428183.1:c.480C>A

                    10.

                    rs1469189775 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:51379415 (GRCh38)
                      12:51773199 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:51379414:T:C
                      Gene:
                      GALNT6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.51379415T>C, NC_000012.11:g.51773199T>C, NM_007210.4:c.367A>G, NM_007210.3:c.367A>G, XM_017018745.3:c.367A>G, XM_017018745.2:c.367A>G, XM_017018745.1:c.367A>G, XM_011537822.3:c.367A>G, XM_011537822.2:c.367A>G, XM_011537822.1:c.367A>G, XM_006719214.3:c.367A>G, XM_006719214.2:c.367A>G, XM_006719214.1:c.367A>G, XM_024448817.2:c.367A>G, XM_024448817.1:c.367A>G, XM_024448814.2:c.367A>G, XM_024448814.1:c.367A>G, XM_024448811.2:c.367A>G, XM_024448811.1:c.367A>G, XM_024448816.2:c.367A>G, XM_024448816.1:c.367A>G, XM_024448813.2:c.367A>G, XM_024448813.1:c.367A>G, XM_024448815.2:c.367A>G, XM_024448815.1:c.367A>G, XM_005268607.2:c.367A>G, XM_005268607.1:c.367A>G, XM_047428180.1:c.367A>G, XM_047428174.1:c.367A>G, XM_047428182.1:c.367A>G, XM_047428179.1:c.367A>G, XM_047428178.1:c.367A>G, XM_047428177.1:c.367A>G, XM_047428175.1:c.367A>G, XM_047428181.1:c.367A>G, XM_047428176.1:c.367A>G, XM_047428183.1:c.367A>G, NP_009141.2:p.Ser123Gly, XP_016874234.1:p.Ser123Gly, XP_011536124.1:p.Ser123Gly, XP_006719277.1:p.Ser123Gly, XP_024304585.1:p.Ser123Gly, XP_024304582.1:p.Ser123Gly, XP_024304579.1:p.Ser123Gly, XP_024304584.1:p.Ser123Gly, XP_024304581.1:p.Ser123Gly, XP_024304583.1:p.Ser123Gly, XP_005268664.1:p.Ser123Gly, XP_047284136.1:p.Ser123Gly, XP_047284130.1:p.Ser123Gly, XP_047284138.1:p.Ser123Gly, XP_047284135.1:p.Ser123Gly, XP_047284134.1:p.Ser123Gly, XP_047284133.1:p.Ser123Gly, XP_047284131.1:p.Ser123Gly, XP_047284137.1:p.Ser123Gly, XP_047284132.1:p.Ser123Gly, XP_047284139.1:p.Ser123Gly

                      11.

                      rs1467233419 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->TGCAACCTCCGCCTCCTGGGTTCCGGCAATTCTCCTGCCTC [Show Flanks]
                        Chromosome:
                        12:51355863 (GRCh38)
                        12:51749648 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:51355863:C:CTGCAACCTCCGCCTCCTGGGTTCCGGCAATTCTCCTGCCTC
                        Gene:
                        GALNT6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,stop_gained
                        HGVS:
                        NC_000012.12:g.51355864_51355865insTGCAACCTCCGCCTCCTGGGTTCCGGCAATTCTCCTGCCTC, NC_000012.11:g.51749648_51749649insTGCAACCTCCGCCTCCTGGGTTCCGGCAATTCTCCTGCCTC, NM_007210.4:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, NM_007210.3:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_017018745.3:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_017018745.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_017018745.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_011537822.3:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_011537822.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_011537822.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_006719214.3:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_006719214.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_006719214.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448817.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448817.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448814.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448814.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448811.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448811.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448816.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448816.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448813.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448813.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448815.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_024448815.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_005268607.2:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_005268607.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428180.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428174.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428182.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428179.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428178.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428177.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428175.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428181.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428176.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, XM_047428183.1:c.1697_1698insAGGCAGGAGAATTGCCGGAACCCAGGAGGCGGAGGTTGCAG, NP_009141.2:p.Cys566Ter, XP_016874234.1:p.Cys566Ter, XP_011536124.1:p.Cys566Ter, XP_006719277.1:p.Cys566Ter, XP_024304585.1:p.Cys566Ter, XP_024304582.1:p.Cys566Ter, XP_024304579.1:p.Cys566Ter, XP_024304584.1:p.Cys566Ter, XP_024304581.1:p.Cys566Ter, XP_024304583.1:p.Cys566Ter, XP_005268664.1:p.Cys566Ter, XP_047284136.1:p.Cys566Ter, XP_047284130.1:p.Cys566Ter, XP_047284138.1:p.Cys566Ter, XP_047284135.1:p.Cys566Ter, XP_047284134.1:p.Cys566Ter, XP_047284133.1:p.Cys566Ter, XP_047284131.1:p.Cys566Ter, XP_047284137.1:p.Cys566Ter, XP_047284132.1:p.Cys566Ter, XP_047284139.1:p.Cys566Ter

                        12.

                        rs1467014435 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          12:51379516 (GRCh38)
                          12:51773300 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:51379515:C:G,NC_000012.12:51379515:C:T
                          Gene:
                          GALNT6 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000012.12:g.51379516C>G, NC_000012.12:g.51379516C>T, NC_000012.11:g.51773300C>G, NC_000012.11:g.51773300C>T, NM_007210.4:c.266G>C, NM_007210.4:c.266G>A, NM_007210.3:c.266G>C, NM_007210.3:c.266G>A, XM_017018745.3:c.266G>C, XM_017018745.3:c.266G>A, XM_017018745.2:c.266G>C, XM_017018745.2:c.266G>A, XM_017018745.1:c.266G>C, XM_017018745.1:c.266G>A, XM_011537822.3:c.266G>C, XM_011537822.3:c.266G>A, XM_011537822.2:c.266G>C, XM_011537822.2:c.266G>A, XM_011537822.1:c.266G>C, XM_011537822.1:c.266G>A, XM_006719214.3:c.266G>C, XM_006719214.3:c.266G>A, XM_006719214.2:c.266G>C, XM_006719214.2:c.266G>A, XM_006719214.1:c.266G>C, XM_006719214.1:c.266G>A, XM_024448817.2:c.266G>C, XM_024448817.2:c.266G>A, XM_024448817.1:c.266G>C, XM_024448817.1:c.266G>A, XM_024448814.2:c.266G>C, XM_024448814.2:c.266G>A, XM_024448814.1:c.266G>C, XM_024448814.1:c.266G>A, XM_024448811.2:c.266G>C, XM_024448811.2:c.266G>A, XM_024448811.1:c.266G>C, XM_024448811.1:c.266G>A, XM_024448816.2:c.266G>C, XM_024448816.2:c.266G>A, XM_024448816.1:c.266G>C, XM_024448816.1:c.266G>A, XM_024448813.2:c.266G>C, XM_024448813.2:c.266G>A, XM_024448813.1:c.266G>C, XM_024448813.1:c.266G>A, XM_024448815.2:c.266G>C, XM_024448815.2:c.266G>A, XM_024448815.1:c.266G>C, XM_024448815.1:c.266G>A, XM_005268607.2:c.266G>C, XM_005268607.2:c.266G>A, XM_005268607.1:c.266G>C, XM_005268607.1:c.266G>A, XM_047428180.1:c.266G>C, XM_047428180.1:c.266G>A, XM_047428174.1:c.266G>C, XM_047428174.1:c.266G>A, XM_047428182.1:c.266G>C, XM_047428182.1:c.266G>A, XM_047428179.1:c.266G>C, XM_047428179.1:c.266G>A, XM_047428178.1:c.266G>C, XM_047428178.1:c.266G>A, XM_047428177.1:c.266G>C, XM_047428177.1:c.266G>A, XM_047428175.1:c.266G>C, XM_047428175.1:c.266G>A, XM_047428181.1:c.266G>C, XM_047428181.1:c.266G>A, XM_047428176.1:c.266G>C, XM_047428176.1:c.266G>A, XM_047428183.1:c.266G>C, XM_047428183.1:c.266G>A, NP_009141.2:p.Cys89Ser, NP_009141.2:p.Cys89Tyr, XP_016874234.1:p.Cys89Ser, XP_016874234.1:p.Cys89Tyr, XP_011536124.1:p.Cys89Ser, XP_011536124.1:p.Cys89Tyr, XP_006719277.1:p.Cys89Ser, XP_006719277.1:p.Cys89Tyr, XP_024304585.1:p.Cys89Ser, XP_024304585.1:p.Cys89Tyr, XP_024304582.1:p.Cys89Ser, XP_024304582.1:p.Cys89Tyr, XP_024304579.1:p.Cys89Ser, XP_024304579.1:p.Cys89Tyr, XP_024304584.1:p.Cys89Ser, XP_024304584.1:p.Cys89Tyr, XP_024304581.1:p.Cys89Ser, XP_024304581.1:p.Cys89Tyr, XP_024304583.1:p.Cys89Ser, XP_024304583.1:p.Cys89Tyr, XP_005268664.1:p.Cys89Ser, XP_005268664.1:p.Cys89Tyr, XP_047284136.1:p.Cys89Ser, XP_047284136.1:p.Cys89Tyr, XP_047284130.1:p.Cys89Ser, XP_047284130.1:p.Cys89Tyr, XP_047284138.1:p.Cys89Ser, XP_047284138.1:p.Cys89Tyr, XP_047284135.1:p.Cys89Ser, XP_047284135.1:p.Cys89Tyr, XP_047284134.1:p.Cys89Ser, XP_047284134.1:p.Cys89Tyr, XP_047284133.1:p.Cys89Ser, XP_047284133.1:p.Cys89Tyr, XP_047284131.1:p.Cys89Ser, XP_047284131.1:p.Cys89Tyr, XP_047284137.1:p.Cys89Ser, XP_047284137.1:p.Cys89Tyr, XP_047284132.1:p.Cys89Ser, XP_047284132.1:p.Cys89Tyr, XP_047284139.1:p.Cys89Ser, XP_047284139.1:p.Cys89Tyr

                          13.

                          rs1465437632 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:51377218 (GRCh38)
                            12:51771002 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:51377217:A:G
                            Gene:
                            GALNT6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000028/1 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000012.12:g.51377218A>G, NC_000012.11:g.51771002A>G, NM_007210.4:c.641T>C, NM_007210.3:c.641T>C, XM_017018745.3:c.641T>C, XM_017018745.2:c.641T>C, XM_017018745.1:c.641T>C, XM_011537822.3:c.641T>C, XM_011537822.2:c.641T>C, XM_011537822.1:c.641T>C, XM_006719214.3:c.641T>C, XM_006719214.2:c.641T>C, XM_006719214.1:c.641T>C, XM_024448817.2:c.641T>C, XM_024448817.1:c.641T>C, XM_024448814.2:c.641T>C, XM_024448814.1:c.641T>C, XM_024448811.2:c.641T>C, XM_024448811.1:c.641T>C, XM_024448816.2:c.641T>C, XM_024448816.1:c.641T>C, XM_024448813.2:c.641T>C, XM_024448813.1:c.641T>C, XM_024448815.2:c.641T>C, XM_024448815.1:c.641T>C, XM_005268607.2:c.641T>C, XM_005268607.1:c.641T>C, XM_047428180.1:c.641T>C, XM_047428174.1:c.641T>C, XM_047428182.1:c.641T>C, XM_047428179.1:c.641T>C, XM_047428178.1:c.641T>C, XM_047428177.1:c.641T>C, XM_047428175.1:c.641T>C, XM_047428181.1:c.641T>C, XM_047428176.1:c.641T>C, XM_047428183.1:c.641T>C, NP_009141.2:p.Leu214Pro, XP_016874234.1:p.Leu214Pro, XP_011536124.1:p.Leu214Pro, XP_006719277.1:p.Leu214Pro, XP_024304585.1:p.Leu214Pro, XP_024304582.1:p.Leu214Pro, XP_024304579.1:p.Leu214Pro, XP_024304584.1:p.Leu214Pro, XP_024304581.1:p.Leu214Pro, XP_024304583.1:p.Leu214Pro, XP_005268664.1:p.Leu214Pro, XP_047284136.1:p.Leu214Pro, XP_047284130.1:p.Leu214Pro, XP_047284138.1:p.Leu214Pro, XP_047284135.1:p.Leu214Pro, XP_047284134.1:p.Leu214Pro, XP_047284133.1:p.Leu214Pro, XP_047284131.1:p.Leu214Pro, XP_047284137.1:p.Leu214Pro, XP_047284132.1:p.Leu214Pro, XP_047284139.1:p.Leu214Pro

                            14.

                            rs1462051535 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:51355949 (GRCh38)
                              12:51749733 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:51355948:A:G
                              Gene:
                              GALNT6 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000012.12:g.51355949A>G, NC_000012.11:g.51749733A>G, NM_007210.4:c.1612T>C, NM_007210.3:c.1612T>C, XM_017018745.3:c.1612T>C, XM_017018745.2:c.1612T>C, XM_017018745.1:c.1612T>C, XM_011537822.3:c.1612T>C, XM_011537822.2:c.1612T>C, XM_011537822.1:c.1612T>C, XM_006719214.3:c.1612T>C, XM_006719214.2:c.1612T>C, XM_006719214.1:c.1612T>C, XM_024448817.2:c.1612T>C, XM_024448817.1:c.1612T>C, XM_024448814.2:c.1612T>C, XM_024448814.1:c.1612T>C, XM_024448811.2:c.1612T>C, XM_024448811.1:c.1612T>C, XM_024448816.2:c.1612T>C, XM_024448816.1:c.1612T>C, XM_024448813.2:c.1612T>C, XM_024448813.1:c.1612T>C, XM_024448815.2:c.1612T>C, XM_024448815.1:c.1612T>C, XM_005268607.2:c.1612T>C, XM_005268607.1:c.1612T>C, XM_047428180.1:c.1612T>C, XM_047428174.1:c.1612T>C, XM_047428182.1:c.1612T>C, XM_047428179.1:c.1612T>C, XM_047428178.1:c.1612T>C, XM_047428177.1:c.1612T>C, XM_047428175.1:c.1612T>C, XM_047428181.1:c.1612T>C, XM_047428176.1:c.1612T>C, XM_047428183.1:c.1612T>C, NP_009141.2:p.Tyr538His, XP_016874234.1:p.Tyr538His, XP_011536124.1:p.Tyr538His, XP_006719277.1:p.Tyr538His, XP_024304585.1:p.Tyr538His, XP_024304582.1:p.Tyr538His, XP_024304579.1:p.Tyr538His, XP_024304584.1:p.Tyr538His, XP_024304581.1:p.Tyr538His, XP_024304583.1:p.Tyr538His, XP_005268664.1:p.Tyr538His, XP_047284136.1:p.Tyr538His, XP_047284130.1:p.Tyr538His, XP_047284138.1:p.Tyr538His, XP_047284135.1:p.Tyr538His, XP_047284134.1:p.Tyr538His, XP_047284133.1:p.Tyr538His, XP_047284131.1:p.Tyr538His, XP_047284137.1:p.Tyr538His, XP_047284132.1:p.Tyr538His, XP_047284139.1:p.Tyr538His

                              15.

                              rs1461599665 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                12:51365474 (GRCh38)
                                12:51759258 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:51365473:G:T
                                Gene:
                                GALNT6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000012.12:g.51365474G>T, NC_000012.11:g.51759258G>T, NM_007210.4:c.770C>A, NM_007210.3:c.770C>A, XM_017018745.3:c.770C>A, XM_017018745.2:c.770C>A, XM_017018745.1:c.770C>A, XM_011537822.3:c.770C>A, XM_011537822.2:c.770C>A, XM_011537822.1:c.770C>A, XM_006719214.3:c.770C>A, XM_006719214.2:c.770C>A, XM_006719214.1:c.770C>A, XM_024448817.2:c.770C>A, XM_024448817.1:c.770C>A, XM_024448814.2:c.770C>A, XM_024448814.1:c.770C>A, XM_024448811.2:c.770C>A, XM_024448811.1:c.770C>A, XM_024448816.2:c.770C>A, XM_024448816.1:c.770C>A, XM_024448813.2:c.770C>A, XM_024448813.1:c.770C>A, XM_024448815.2:c.770C>A, XM_024448815.1:c.770C>A, XM_005268607.2:c.770C>A, XM_005268607.1:c.770C>A, XM_047428180.1:c.770C>A, XM_047428174.1:c.770C>A, XM_047428182.1:c.770C>A, XM_047428179.1:c.770C>A, XM_047428178.1:c.770C>A, XM_047428177.1:c.770C>A, XM_047428175.1:c.770C>A, XM_047428181.1:c.770C>A, XM_047428176.1:c.770C>A, XM_047428183.1:c.770C>A, NP_009141.2:p.Ala257Asp, XP_016874234.1:p.Ala257Asp, XP_011536124.1:p.Ala257Asp, XP_006719277.1:p.Ala257Asp, XP_024304585.1:p.Ala257Asp, XP_024304582.1:p.Ala257Asp, XP_024304579.1:p.Ala257Asp, XP_024304584.1:p.Ala257Asp, XP_024304581.1:p.Ala257Asp, XP_024304583.1:p.Ala257Asp, XP_005268664.1:p.Ala257Asp, XP_047284136.1:p.Ala257Asp, XP_047284130.1:p.Ala257Asp, XP_047284138.1:p.Ala257Asp, XP_047284135.1:p.Ala257Asp, XP_047284134.1:p.Ala257Asp, XP_047284133.1:p.Ala257Asp, XP_047284131.1:p.Ala257Asp, XP_047284137.1:p.Ala257Asp, XP_047284132.1:p.Ala257Asp, XP_047284139.1:p.Ala257Asp

                                16.

                                rs1461394648 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:51364350 (GRCh38)
                                  12:51758134 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:51364349:A:G
                                  Gene:
                                  GALNT6 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000012.12:g.51364350A>G, NC_000012.11:g.51758134A>G, NM_007210.4:c.820T>C, NM_007210.3:c.820T>C, XM_017018745.3:c.820T>C, XM_017018745.2:c.820T>C, XM_017018745.1:c.820T>C, XM_011537822.3:c.820T>C, XM_011537822.2:c.820T>C, XM_011537822.1:c.820T>C, XM_006719214.3:c.820T>C, XM_006719214.2:c.820T>C, XM_006719214.1:c.820T>C, XM_024448817.2:c.820T>C, XM_024448817.1:c.820T>C, XM_024448814.2:c.820T>C, XM_024448814.1:c.820T>C, XM_024448811.2:c.820T>C, XM_024448811.1:c.820T>C, XM_024448816.2:c.820T>C, XM_024448816.1:c.820T>C, XM_024448813.2:c.820T>C, XM_024448813.1:c.820T>C, XM_024448815.2:c.820T>C, XM_024448815.1:c.820T>C, XM_005268607.2:c.820T>C, XM_005268607.1:c.820T>C, XM_047428180.1:c.820T>C, XM_047428174.1:c.820T>C, XM_047428182.1:c.820T>C, XM_047428179.1:c.820T>C, XM_047428178.1:c.820T>C, XM_047428177.1:c.820T>C, XM_047428175.1:c.820T>C, XM_047428181.1:c.820T>C, XM_047428176.1:c.820T>C, XM_047428183.1:c.820T>C, NP_009141.2:p.Cys274Arg, XP_016874234.1:p.Cys274Arg, XP_011536124.1:p.Cys274Arg, XP_006719277.1:p.Cys274Arg, XP_024304585.1:p.Cys274Arg, XP_024304582.1:p.Cys274Arg, XP_024304579.1:p.Cys274Arg, XP_024304584.1:p.Cys274Arg, XP_024304581.1:p.Cys274Arg, XP_024304583.1:p.Cys274Arg, XP_005268664.1:p.Cys274Arg, XP_047284136.1:p.Cys274Arg, XP_047284130.1:p.Cys274Arg, XP_047284138.1:p.Cys274Arg, XP_047284135.1:p.Cys274Arg, XP_047284134.1:p.Cys274Arg, XP_047284133.1:p.Cys274Arg, XP_047284131.1:p.Cys274Arg, XP_047284137.1:p.Cys274Arg, XP_047284132.1:p.Cys274Arg, XP_047284139.1:p.Cys274Arg

                                  17.

                                  rs1457709001 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    12:51379512 (GRCh38)
                                    12:51773296 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:51379511:G:A,NC_000012.12:51379511:G:C
                                    Gene:
                                    GALNT6 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.51379512G>A, NC_000012.12:g.51379512G>C, NC_000012.11:g.51773296G>A, NC_000012.11:g.51773296G>C, NM_007210.4:c.270C>T, NM_007210.4:c.270C>G, NM_007210.3:c.270C>T, NM_007210.3:c.270C>G, XM_017018745.3:c.270C>T, XM_017018745.3:c.270C>G, XM_017018745.2:c.270C>T, XM_017018745.2:c.270C>G, XM_017018745.1:c.270C>T, XM_017018745.1:c.270C>G, XM_011537822.3:c.270C>T, XM_011537822.3:c.270C>G, XM_011537822.2:c.270C>T, XM_011537822.2:c.270C>G, XM_011537822.1:c.270C>T, XM_011537822.1:c.270C>G, XM_006719214.3:c.270C>T, XM_006719214.3:c.270C>G, XM_006719214.2:c.270C>T, XM_006719214.2:c.270C>G, XM_006719214.1:c.270C>T, XM_006719214.1:c.270C>G, XM_024448817.2:c.270C>T, XM_024448817.2:c.270C>G, XM_024448817.1:c.270C>T, XM_024448817.1:c.270C>G, XM_024448814.2:c.270C>T, XM_024448814.2:c.270C>G, XM_024448814.1:c.270C>T, XM_024448814.1:c.270C>G, XM_024448811.2:c.270C>T, XM_024448811.2:c.270C>G, XM_024448811.1:c.270C>T, XM_024448811.1:c.270C>G, XM_024448816.2:c.270C>T, XM_024448816.2:c.270C>G, XM_024448816.1:c.270C>T, XM_024448816.1:c.270C>G, XM_024448813.2:c.270C>T, XM_024448813.2:c.270C>G, XM_024448813.1:c.270C>T, XM_024448813.1:c.270C>G, XM_024448815.2:c.270C>T, XM_024448815.2:c.270C>G, XM_024448815.1:c.270C>T, XM_024448815.1:c.270C>G, XM_005268607.2:c.270C>T, XM_005268607.2:c.270C>G, XM_005268607.1:c.270C>T, XM_005268607.1:c.270C>G, XM_047428180.1:c.270C>T, XM_047428180.1:c.270C>G, XM_047428174.1:c.270C>T, XM_047428174.1:c.270C>G, XM_047428182.1:c.270C>T, XM_047428182.1:c.270C>G, XM_047428179.1:c.270C>T, XM_047428179.1:c.270C>G, XM_047428178.1:c.270C>T, XM_047428178.1:c.270C>G, XM_047428177.1:c.270C>T, XM_047428177.1:c.270C>G, XM_047428175.1:c.270C>T, XM_047428175.1:c.270C>G, XM_047428181.1:c.270C>T, XM_047428181.1:c.270C>G, XM_047428176.1:c.270C>T, XM_047428176.1:c.270C>G, XM_047428183.1:c.270C>T, XM_047428183.1:c.270C>G

                                    18.

                                    rs1456879661 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      12:51377268 (GRCh38)
                                      12:51771052 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:51377267:C:A
                                      Gene:
                                      GALNT6 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.51377268C>A, NC_000012.11:g.51771052C>A, NM_007210.4:c.591G>T, NM_007210.3:c.591G>T, XM_017018745.3:c.591G>T, XM_017018745.2:c.591G>T, XM_017018745.1:c.591G>T, XM_011537822.3:c.591G>T, XM_011537822.2:c.591G>T, XM_011537822.1:c.591G>T, XM_006719214.3:c.591G>T, XM_006719214.2:c.591G>T, XM_006719214.1:c.591G>T, XM_024448817.2:c.591G>T, XM_024448817.1:c.591G>T, XM_024448814.2:c.591G>T, XM_024448814.1:c.591G>T, XM_024448811.2:c.591G>T, XM_024448811.1:c.591G>T, XM_024448816.2:c.591G>T, XM_024448816.1:c.591G>T, XM_024448813.2:c.591G>T, XM_024448813.1:c.591G>T, XM_024448815.2:c.591G>T, XM_024448815.1:c.591G>T, XM_005268607.2:c.591G>T, XM_005268607.1:c.591G>T, XM_047428180.1:c.591G>T, XM_047428174.1:c.591G>T, XM_047428182.1:c.591G>T, XM_047428179.1:c.591G>T, XM_047428178.1:c.591G>T, XM_047428177.1:c.591G>T, XM_047428175.1:c.591G>T, XM_047428181.1:c.591G>T, XM_047428176.1:c.591G>T, XM_047428183.1:c.591G>T

                                      19.

                                      rs1456773357 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:51364183 (GRCh38)
                                        12:51757967 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:51364182:G:A
                                        Gene:
                                        GALNT6 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000012/3 (GnomAD_exomes)
                                        A=0.000106/2 (TOMMO)
                                        HGVS:
                                        NC_000012.12:g.51364183G>A, NC_000012.11:g.51757967G>A, NM_007210.4:c.987C>T, NM_007210.3:c.987C>T, XM_017018745.3:c.987C>T, XM_017018745.2:c.987C>T, XM_017018745.1:c.987C>T, XM_011537822.3:c.987C>T, XM_011537822.2:c.987C>T, XM_011537822.1:c.987C>T, XM_006719214.3:c.987C>T, XM_006719214.2:c.987C>T, XM_006719214.1:c.987C>T, XM_024448817.2:c.987C>T, XM_024448817.1:c.987C>T, XM_024448814.2:c.987C>T, XM_024448814.1:c.987C>T, XM_024448811.2:c.987C>T, XM_024448811.1:c.987C>T, XM_024448816.2:c.987C>T, XM_024448816.1:c.987C>T, XM_024448813.2:c.987C>T, XM_024448813.1:c.987C>T, XM_024448815.2:c.987C>T, XM_024448815.1:c.987C>T, XM_005268607.2:c.987C>T, XM_005268607.1:c.987C>T, XM_047428180.1:c.987C>T, XM_047428174.1:c.987C>T, XM_047428182.1:c.987C>T, XM_047428179.1:c.987C>T, XM_047428178.1:c.987C>T, XM_047428177.1:c.987C>T, XM_047428175.1:c.987C>T, XM_047428181.1:c.987C>T, XM_047428176.1:c.987C>T, XM_047428183.1:c.987C>T

                                        20.

                                        rs1455018815 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:51379345 (GRCh38)
                                          12:51773129 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:51379344:G:A
                                          Gene:
                                          GALNT6 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000012.12:g.51379345G>A, NC_000012.11:g.51773129G>A, NM_007210.4:c.437C>T, NM_007210.3:c.437C>T, XM_017018745.3:c.437C>T, XM_017018745.2:c.437C>T, XM_017018745.1:c.437C>T, XM_011537822.3:c.437C>T, XM_011537822.2:c.437C>T, XM_011537822.1:c.437C>T, XM_006719214.3:c.437C>T, XM_006719214.2:c.437C>T, XM_006719214.1:c.437C>T, XM_024448817.2:c.437C>T, XM_024448817.1:c.437C>T, XM_024448814.2:c.437C>T, XM_024448814.1:c.437C>T, XM_024448811.2:c.437C>T, XM_024448811.1:c.437C>T, XM_024448816.2:c.437C>T, XM_024448816.1:c.437C>T, XM_024448813.2:c.437C>T, XM_024448813.1:c.437C>T, XM_024448815.2:c.437C>T, XM_024448815.1:c.437C>T, XM_005268607.2:c.437C>T, XM_005268607.1:c.437C>T, XM_047428180.1:c.437C>T, XM_047428174.1:c.437C>T, XM_047428182.1:c.437C>T, XM_047428179.1:c.437C>T, XM_047428178.1:c.437C>T, XM_047428177.1:c.437C>T, XM_047428175.1:c.437C>T, XM_047428181.1:c.437C>T, XM_047428176.1:c.437C>T, XM_047428183.1:c.437C>T, NP_009141.2:p.Ala146Val, XP_016874234.1:p.Ala146Val, XP_011536124.1:p.Ala146Val, XP_006719277.1:p.Ala146Val, XP_024304585.1:p.Ala146Val, XP_024304582.1:p.Ala146Val, XP_024304579.1:p.Ala146Val, XP_024304584.1:p.Ala146Val, XP_024304581.1:p.Ala146Val, XP_024304583.1:p.Ala146Val, XP_005268664.1:p.Ala146Val, XP_047284136.1:p.Ala146Val, XP_047284130.1:p.Ala146Val, XP_047284138.1:p.Ala146Val, XP_047284135.1:p.Ala146Val, XP_047284134.1:p.Ala146Val, XP_047284133.1:p.Ala146Val, XP_047284131.1:p.Ala146Val, XP_047284137.1:p.Ala146Val, XP_047284132.1:p.Ala146Val, XP_047284139.1:p.Ala146Val

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