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Items: 1 to 20 of 201

1.

rs1490050105 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:76412130 (GRCh38)
    1:76877815 (GRCh37)
    Canonical SPDI:
    NC_000001.11:76412129:C:A
    Gene:
    ST6GALNAC3 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.76412130C>A, NC_000001.10:g.76877815C>A, NM_152996.4:c.336C>A, NM_152996.3:c.336C>A, NM_152996.2:c.336C>A, XM_017000937.3:c.390C>A, XM_017000937.2:c.390C>A, XM_017000937.1:c.390C>A, XM_017000941.3:c.72C>A, XM_017000941.2:c.72C>A, XM_017000941.1:c.72C>A, NM_001349109.3:c.336C>A, NM_001349109.2:c.336C>A, NM_001349109.1:c.336C>A, NM_001160011.3:c.336C>A, NM_001160011.2:c.336C>A, NM_001160011.1:c.336C>A, XM_017000939.2:c.390C>A, XM_017000939.1:c.390C>A, NM_001349106.2:c.72C>A, NM_001349106.1:c.72C>A, NM_001349111.2:c.372C>A, NM_001349111.1:c.372C>A, NR_146056.2:n.457C>A, NR_146056.1:n.519C>A, NM_001349107.2:c.336C>A, NM_001349107.1:c.336C>A, NM_001349108.2:c.141C>A, NM_001349108.1:c.141C>A, NM_001349105.2:c.141C>A, NM_001349105.1:c.141C>A, NM_001349110.2:c.336C>A, NM_001349110.1:c.336C>A, XM_047417095.1:c.336C>A, XM_047417099.1:c.372C>A

    2.

    rs1489323361 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      1:76313836 (GRCh38)
      1:76779521 (GRCh37)
      Canonical SPDI:
      NC_000001.11:76313835:C:A,NC_000001.11:76313835:C:T
      Gene:
      ST6GALNAC3 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.00004/1 (TOMMO)
      C=0.5/1 (SGDP_PRJ)
      HGVS:
      NC_000001.11:g.76313836C>A, NC_000001.11:g.76313836C>T, NC_000001.10:g.76779521C>A, NC_000001.10:g.76779521C>T, NM_152996.4:c.50C>A, NM_152996.4:c.50C>T, NM_152996.3:c.50C>A, NM_152996.3:c.50C>T, NM_152996.2:c.50C>A, NM_152996.2:c.50C>T, XM_017000937.3:c.104C>A, XM_017000937.3:c.104C>T, XM_017000937.2:c.104C>A, XM_017000937.2:c.104C>T, XM_017000937.1:c.104C>A, XM_017000937.1:c.104C>T, XM_017000941.3:c.-215C>A, XM_017000941.3:c.-215C>T, XM_017000941.2:c.-215C>A, XM_017000941.2:c.-215C>T, XM_017000941.1:c.-215C>A, XM_017000941.1:c.-215C>T, NM_001349109.3:c.50C>A, NM_001349109.3:c.50C>T, NM_001349109.2:c.50C>A, NM_001349109.2:c.50C>T, NM_001349109.1:c.50C>A, NM_001349109.1:c.50C>T, NM_001160011.3:c.50C>A, NM_001160011.3:c.50C>T, NM_001160011.2:c.50C>A, NM_001160011.2:c.50C>T, NM_001160011.1:c.50C>A, NM_001160011.1:c.50C>T, XM_017000939.2:c.104C>A, XM_017000939.2:c.104C>T, XM_017000939.1:c.104C>A, XM_017000939.1:c.104C>T, NM_001349106.2:c.-215C>A, NM_001349106.2:c.-215C>T, NM_001349106.1:c.-215C>A, NM_001349106.1:c.-215C>T, NM_001349111.2:c.86C>A, NM_001349111.2:c.86C>T, NM_001349111.1:c.86C>A, NM_001349111.1:c.86C>T, NR_146056.2:n.171C>A, NR_146056.2:n.171C>T, NR_146056.1:n.233C>A, NR_146056.1:n.233C>T, NM_001349107.2:c.50C>A, NM_001349107.2:c.50C>T, NM_001349107.1:c.50C>A, NM_001349107.1:c.50C>T, NM_001349110.2:c.50C>A, NM_001349110.2:c.50C>T, NM_001349110.1:c.50C>A, NM_001349110.1:c.50C>T, XM_047417095.1:c.50C>A, XM_047417095.1:c.50C>T, XM_047417099.1:c.86C>A, XM_047417099.1:c.86C>T, NP_694541.2:p.Ala17Glu, NP_694541.2:p.Ala17Val, XP_016856426.1:p.Ala35Glu, XP_016856426.1:p.Ala35Val, NP_001336038.1:p.Ala17Glu, NP_001336038.1:p.Ala17Val, NP_001153483.1:p.Ala17Glu, NP_001153483.1:p.Ala17Val, XP_016856428.1:p.Ala35Glu, XP_016856428.1:p.Ala35Val, NP_001336040.1:p.Ala29Glu, NP_001336040.1:p.Ala29Val, NP_001336036.1:p.Ala17Glu, NP_001336036.1:p.Ala17Val, NP_001336039.1:p.Ala17Glu, NP_001336039.1:p.Ala17Val, XP_047273051.1:p.Ala17Glu, XP_047273051.1:p.Ala17Val, XP_047273055.1:p.Ala29Glu, XP_047273055.1:p.Ala29Val

      3.

      rs1485446515 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:76634141 (GRCh38)
        1:77099826 (GRCh37)
        Canonical SPDI:
        NC_000001.11:76634140:T:C
        Gene:
        ST6GALNAC3 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1474425982 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:76412143 (GRCh38)
          1:76877828 (GRCh37)
          Canonical SPDI:
          NC_000001.11:76412142:G:A
          Gene:
          ST6GALNAC3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000001.11:g.76412143G>A, NC_000001.10:g.76877828G>A, NM_152996.4:c.349G>A, NM_152996.3:c.349G>A, NM_152996.2:c.349G>A, XM_017000937.3:c.403G>A, XM_017000937.2:c.403G>A, XM_017000937.1:c.403G>A, XM_017000941.3:c.85G>A, XM_017000941.2:c.85G>A, XM_017000941.1:c.85G>A, NM_001349109.3:c.349G>A, NM_001349109.2:c.349G>A, NM_001349109.1:c.349G>A, NM_001160011.3:c.349G>A, NM_001160011.2:c.349G>A, NM_001160011.1:c.349G>A, XM_017000939.2:c.403G>A, XM_017000939.1:c.403G>A, NM_001349106.2:c.85G>A, NM_001349106.1:c.85G>A, NM_001349111.2:c.385G>A, NM_001349111.1:c.385G>A, NR_146056.2:n.470G>A, NR_146056.1:n.532G>A, NM_001349107.2:c.349G>A, NM_001349107.1:c.349G>A, NM_001349108.2:c.154G>A, NM_001349108.1:c.154G>A, NM_001349105.2:c.154G>A, NM_001349105.1:c.154G>A, NM_001349110.2:c.349G>A, NM_001349110.1:c.349G>A, XM_047417095.1:c.349G>A, XM_047417099.1:c.385G>A, NP_694541.2:p.Glu117Lys, XP_016856426.1:p.Glu135Lys, XP_016856430.1:p.Glu29Lys, NP_001336038.1:p.Glu117Lys, NP_001153483.1:p.Glu117Lys, XP_016856428.1:p.Glu135Lys, NP_001336035.1:p.Glu29Lys, NP_001336040.1:p.Glu129Lys, NP_001336036.1:p.Glu117Lys, NP_001336037.1:p.Glu52Lys, NP_001336034.1:p.Glu52Lys, NP_001336039.1:p.Glu117Lys, XP_047273051.1:p.Glu117Lys, XP_047273055.1:p.Glu129Lys

          5.

          rs1467974001 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:76634155 (GRCh38)
            1:77099840 (GRCh37)
            Canonical SPDI:
            NC_000001.11:76634154:A:G
            Gene:
            ST6GALNAC3 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs1467511289 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:76412397 (GRCh38)
              1:76878082 (GRCh37)
              Canonical SPDI:
              NC_000001.11:76412396:G:A
              Gene:
              ST6GALNAC3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              HGVS:
              NC_000001.11:g.76412397G>A, NC_000001.10:g.76878082G>A, NM_152996.4:c.603G>A, NM_152996.3:c.603G>A, NM_152996.2:c.603G>A, XM_017000937.3:c.657G>A, XM_017000937.2:c.657G>A, XM_017000937.1:c.657G>A, XM_017000941.3:c.339G>A, XM_017000941.2:c.339G>A, XM_017000941.1:c.339G>A, NM_001349109.3:c.603G>A, NM_001349109.2:c.603G>A, NM_001349109.1:c.603G>A, NM_001160011.3:c.603G>A, NM_001160011.2:c.603G>A, NM_001160011.1:c.603G>A, XM_017000939.2:c.657G>A, XM_017000939.1:c.657G>A, NM_001349106.2:c.339G>A, NM_001349106.1:c.339G>A, NM_001349111.2:c.639G>A, NM_001349111.1:c.639G>A, NR_146056.2:n.724G>A, NR_146056.1:n.786G>A, NM_001349107.2:c.603G>A, NM_001349107.1:c.603G>A, NM_001349108.2:c.408G>A, NM_001349108.1:c.408G>A, NM_001349105.2:c.408G>A, NM_001349105.1:c.408G>A, NM_001349110.2:c.603G>A, NM_001349110.1:c.603G>A, XM_047417095.1:c.603G>A, XM_047417099.1:c.639G>A

              7.

              rs1466068803 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:76313961 (GRCh38)
                1:76779646 (GRCh37)
                Canonical SPDI:
                NC_000001.11:76313960:C:T
                Gene:
                ST6GALNAC3 (Varview)
                Functional Consequence:
                stop_gained,non_coding_transcript_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.76313961C>T, NC_000001.10:g.76779646C>T, NM_152996.4:c.175C>T, NM_152996.3:c.175C>T, NM_152996.2:c.175C>T, XM_017000937.3:c.229C>T, XM_017000937.2:c.229C>T, XM_017000937.1:c.229C>T, XM_017000941.3:c.-90C>T, XM_017000941.2:c.-90C>T, XM_017000941.1:c.-90C>T, NM_001349109.3:c.175C>T, NM_001349109.2:c.175C>T, NM_001349109.1:c.175C>T, NM_001160011.3:c.175C>T, NM_001160011.2:c.175C>T, NM_001160011.1:c.175C>T, XM_017000939.2:c.229C>T, XM_017000939.1:c.229C>T, NM_001349106.2:c.-90C>T, NM_001349106.1:c.-90C>T, NM_001349111.2:c.211C>T, NM_001349111.1:c.211C>T, NR_146056.2:n.296C>T, NR_146056.1:n.358C>T, NM_001349107.2:c.175C>T, NM_001349107.1:c.175C>T, NM_001349110.2:c.175C>T, NM_001349110.1:c.175C>T, XM_047417095.1:c.175C>T, XM_047417099.1:c.211C>T, NP_694541.2:p.Arg59Ter, XP_016856426.1:p.Arg77Ter, NP_001336038.1:p.Arg59Ter, NP_001153483.1:p.Arg59Ter, XP_016856428.1:p.Arg77Ter, NP_001336040.1:p.Arg71Ter, NP_001336036.1:p.Arg59Ter, NP_001336039.1:p.Arg59Ter, XP_047273051.1:p.Arg59Ter, XP_047273055.1:p.Arg71Ter

                8.

                rs1461168865 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:76412339 (GRCh38)
                  1:76878024 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:76412338:A:G
                  Gene:
                  ST6GALNAC3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.76412339A>G, NC_000001.10:g.76878024A>G, NM_152996.4:c.545A>G, NM_152996.3:c.545A>G, NM_152996.2:c.545A>G, XM_017000937.3:c.599A>G, XM_017000937.2:c.599A>G, XM_017000937.1:c.599A>G, XM_017000941.3:c.281A>G, XM_017000941.2:c.281A>G, XM_017000941.1:c.281A>G, NM_001349109.3:c.545A>G, NM_001349109.2:c.545A>G, NM_001349109.1:c.545A>G, NM_001160011.3:c.545A>G, NM_001160011.2:c.545A>G, NM_001160011.1:c.545A>G, XM_017000939.2:c.599A>G, XM_017000939.1:c.599A>G, NM_001349106.2:c.281A>G, NM_001349106.1:c.281A>G, NM_001349111.2:c.581A>G, NM_001349111.1:c.581A>G, NR_146056.2:n.666A>G, NR_146056.1:n.728A>G, NM_001349107.2:c.545A>G, NM_001349107.1:c.545A>G, NM_001349108.2:c.350A>G, NM_001349108.1:c.350A>G, NM_001349105.2:c.350A>G, NM_001349105.1:c.350A>G, NM_001349110.2:c.545A>G, NM_001349110.1:c.545A>G, XM_047417095.1:c.545A>G, XM_047417099.1:c.581A>G, NP_694541.2:p.Asn182Ser, XP_016856426.1:p.Asn200Ser, XP_016856430.1:p.Asn94Ser, NP_001336038.1:p.Asn182Ser, NP_001153483.1:p.Asn182Ser, XP_016856428.1:p.Asn200Ser, NP_001336035.1:p.Asn94Ser, NP_001336040.1:p.Asn194Ser, NP_001336036.1:p.Asn182Ser, NP_001336037.1:p.Asn117Ser, NP_001336034.1:p.Asn117Ser, NP_001336039.1:p.Asn182Ser, XP_047273051.1:p.Asn182Ser, XP_047273055.1:p.Asn194Ser

                  9.

                  rs1454542102 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:76412015 (GRCh38)
                    1:76877700 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:76412014:A:G
                    Gene:
                    ST6GALNAC3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000001.11:g.76412015A>G, NC_000001.10:g.76877700A>G, NM_152996.4:c.221A>G, NM_152996.3:c.221A>G, NM_152996.2:c.221A>G, XM_017000937.3:c.275A>G, XM_017000937.2:c.275A>G, XM_017000937.1:c.275A>G, XM_017000941.3:c.-44A>G, XM_017000941.2:c.-44A>G, XM_017000941.1:c.-44A>G, NM_001349109.3:c.221A>G, NM_001349109.2:c.221A>G, NM_001349109.1:c.221A>G, NM_001160011.3:c.221A>G, NM_001160011.2:c.221A>G, NM_001160011.1:c.221A>G, XM_017000939.2:c.275A>G, XM_017000939.1:c.275A>G, NM_001349106.2:c.-44A>G, NM_001349106.1:c.-44A>G, NM_001349111.2:c.257A>G, NM_001349111.1:c.257A>G, NR_146056.2:n.342A>G, NR_146056.1:n.404A>G, NM_001349107.2:c.221A>G, NM_001349107.1:c.221A>G, NM_001349108.2:c.26A>G, NM_001349108.1:c.26A>G, NM_001349105.2:c.26A>G, NM_001349105.1:c.26A>G, NM_001349110.2:c.221A>G, NM_001349110.1:c.221A>G, XM_047417095.1:c.221A>G, XM_047417099.1:c.257A>G, NP_694541.2:p.Gln74Arg, XP_016856426.1:p.Gln92Arg, NP_001336038.1:p.Gln74Arg, NP_001153483.1:p.Gln74Arg, XP_016856428.1:p.Gln92Arg, NP_001336040.1:p.Gln86Arg, NP_001336036.1:p.Gln74Arg, NP_001336037.1:p.Gln9Arg, NP_001336034.1:p.Gln9Arg, NP_001336039.1:p.Gln74Arg, XP_047273051.1:p.Gln74Arg, XP_047273055.1:p.Gln86Arg

                    10.

                    rs1444744706 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:76412183 (GRCh38)
                      1:76877868 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:76412182:A:G
                      Gene:
                      ST6GALNAC3 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.76412183A>G, NC_000001.10:g.76877868A>G, NM_152996.4:c.389A>G, NM_152996.3:c.389A>G, NM_152996.2:c.389A>G, XM_017000937.3:c.443A>G, XM_017000937.2:c.443A>G, XM_017000937.1:c.443A>G, XM_017000941.3:c.125A>G, XM_017000941.2:c.125A>G, XM_017000941.1:c.125A>G, NM_001349109.3:c.389A>G, NM_001349109.2:c.389A>G, NM_001349109.1:c.389A>G, NM_001160011.3:c.389A>G, NM_001160011.2:c.389A>G, NM_001160011.1:c.389A>G, XM_017000939.2:c.443A>G, XM_017000939.1:c.443A>G, NM_001349106.2:c.125A>G, NM_001349106.1:c.125A>G, NM_001349111.2:c.425A>G, NM_001349111.1:c.425A>G, NR_146056.2:n.510A>G, NR_146056.1:n.572A>G, NM_001349107.2:c.389A>G, NM_001349107.1:c.389A>G, NM_001349108.2:c.194A>G, NM_001349108.1:c.194A>G, NM_001349105.2:c.194A>G, NM_001349105.1:c.194A>G, NM_001349110.2:c.389A>G, NM_001349110.1:c.389A>G, XM_047417095.1:c.389A>G, XM_047417099.1:c.425A>G, NP_694541.2:p.His130Arg, XP_016856426.1:p.His148Arg, XP_016856430.1:p.His42Arg, NP_001336038.1:p.His130Arg, NP_001153483.1:p.His130Arg, XP_016856428.1:p.His148Arg, NP_001336035.1:p.His42Arg, NP_001336040.1:p.His142Arg, NP_001336036.1:p.His130Arg, NP_001336037.1:p.His65Arg, NP_001336034.1:p.His65Arg, NP_001336039.1:p.His130Arg, XP_047273051.1:p.His130Arg, XP_047273055.1:p.His142Arg

                      11.

                      rs1427568779 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        1:76412227 (GRCh38)
                        1:76877912 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:76412226:A:C
                        Gene:
                        ST6GALNAC3 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000028/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.76412227A>C, NC_000001.10:g.76877912A>C, NM_152996.4:c.433A>C, NM_152996.3:c.433A>C, NM_152996.2:c.433A>C, XM_017000937.3:c.487A>C, XM_017000937.2:c.487A>C, XM_017000937.1:c.487A>C, XM_017000941.3:c.169A>C, XM_017000941.2:c.169A>C, XM_017000941.1:c.169A>C, NM_001349109.3:c.433A>C, NM_001349109.2:c.433A>C, NM_001349109.1:c.433A>C, NM_001160011.3:c.433A>C, NM_001160011.2:c.433A>C, NM_001160011.1:c.433A>C, XM_017000939.2:c.487A>C, XM_017000939.1:c.487A>C, NM_001349106.2:c.169A>C, NM_001349106.1:c.169A>C, NM_001349111.2:c.469A>C, NM_001349111.1:c.469A>C, NR_146056.2:n.554A>C, NR_146056.1:n.616A>C, NM_001349107.2:c.433A>C, NM_001349107.1:c.433A>C, NM_001349108.2:c.238A>C, NM_001349108.1:c.238A>C, NM_001349105.2:c.238A>C, NM_001349105.1:c.238A>C, NM_001349110.2:c.433A>C, NM_001349110.1:c.433A>C, XM_047417095.1:c.433A>C, XM_047417099.1:c.469A>C, NP_694541.2:p.Lys145Gln, XP_016856426.1:p.Lys163Gln, XP_016856430.1:p.Lys57Gln, NP_001336038.1:p.Lys145Gln, NP_001153483.1:p.Lys145Gln, XP_016856428.1:p.Lys163Gln, NP_001336035.1:p.Lys57Gln, NP_001336040.1:p.Lys157Gln, NP_001336036.1:p.Lys145Gln, NP_001336037.1:p.Lys80Gln, NP_001336034.1:p.Lys80Gln, NP_001336039.1:p.Lys145Gln, XP_047273051.1:p.Lys145Gln, XP_047273055.1:p.Lys157Gln

                        12.

                        rs1424890947 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->GC [Show Flanks]
                          Chromosome:
                          1:76412395 (GRCh38)
                          1:76878081 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:76412395::GC
                          Gene:
                          ST6GALNAC3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000001.11:g.76412395_76412396insGC, NC_000001.10:g.76878080_76878081insGC, NM_152996.4:c.601_602insGC, NM_152996.3:c.601_602insGC, NM_152996.2:c.601_602insGC, XM_017000937.3:c.655_656insGC, XM_017000937.2:c.655_656insGC, XM_017000937.1:c.655_656insGC, XM_017000941.3:c.337_338insGC, XM_017000941.2:c.337_338insGC, XM_017000941.1:c.337_338insGC, NM_001349109.3:c.601_602insGC, NM_001349109.2:c.601_602insGC, NM_001349109.1:c.601_602insGC, NM_001160011.3:c.601_602insGC, NM_001160011.2:c.601_602insGC, NM_001160011.1:c.601_602insGC, XM_017000939.2:c.655_656insGC, XM_017000939.1:c.655_656insGC, NM_001349106.2:c.337_338insGC, NM_001349106.1:c.337_338insGC, NM_001349111.2:c.637_638insGC, NM_001349111.1:c.637_638insGC, NR_146056.2:n.722_723insGC, NR_146056.1:n.784_785insGC, NM_001349107.2:c.601_602insGC, NM_001349107.1:c.601_602insGC, NM_001349108.2:c.406_407insGC, NM_001349108.1:c.406_407insGC, NM_001349105.2:c.406_407insGC, NM_001349105.1:c.406_407insGC, NM_001349110.2:c.601_602insGC, NM_001349110.1:c.601_602insGC, XM_047417095.1:c.601_602insGC, XM_047417099.1:c.637_638insGC, NP_694541.2:p.Lys201fs, XP_016856426.1:p.Lys219fs, XP_016856430.1:p.Lys113fs, NP_001336038.1:p.Lys201fs, NP_001153483.1:p.Lys201fs, XP_016856428.1:p.Lys219fs, NP_001336035.1:p.Lys113fs, NP_001336040.1:p.Lys213fs, NP_001336036.1:p.Lys201fs, NP_001336037.1:p.Lys136fs, NP_001336034.1:p.Lys136fs, NP_001336039.1:p.Lys201fs, XP_047273051.1:p.Lys201fs, XP_047273055.1:p.Lys213fs

                          13.

                          rs1421199744 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:76313946 (GRCh38)
                            1:76779631 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:76313945:T:C
                            Gene:
                            ST6GALNAC3 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.76313946T>C, NC_000001.10:g.76779631T>C, NM_152996.4:c.160T>C, NM_152996.3:c.160T>C, NM_152996.2:c.160T>C, XM_017000937.3:c.214T>C, XM_017000937.2:c.214T>C, XM_017000937.1:c.214T>C, XM_017000941.3:c.-105T>C, XM_017000941.2:c.-105T>C, XM_017000941.1:c.-105T>C, NM_001349109.3:c.160T>C, NM_001349109.2:c.160T>C, NM_001349109.1:c.160T>C, NM_001160011.3:c.160T>C, NM_001160011.2:c.160T>C, NM_001160011.1:c.160T>C, XM_017000939.2:c.214T>C, XM_017000939.1:c.214T>C, NM_001349106.2:c.-105T>C, NM_001349106.1:c.-105T>C, NM_001349111.2:c.196T>C, NM_001349111.1:c.196T>C, NR_146056.2:n.281T>C, NR_146056.1:n.343T>C, NM_001349107.2:c.160T>C, NM_001349107.1:c.160T>C, NM_001349110.2:c.160T>C, NM_001349110.1:c.160T>C, XM_047417095.1:c.160T>C, XM_047417099.1:c.196T>C, NP_694541.2:p.Tyr54His, XP_016856426.1:p.Tyr72His, NP_001336038.1:p.Tyr54His, NP_001153483.1:p.Tyr54His, XP_016856428.1:p.Tyr72His, NP_001336040.1:p.Tyr66His, NP_001336036.1:p.Tyr54His, NP_001336039.1:p.Tyr54His, XP_047273051.1:p.Tyr54His, XP_047273055.1:p.Tyr66His

                            14.

                            rs1402502375 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              1:76412407 (GRCh38)
                              1:76878092 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:76412406:G:A,NC_000001.11:76412406:G:T
                              Gene:
                              ST6GALNAC3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000001.11:g.76412407G>A, NC_000001.11:g.76412407G>T, NC_000001.10:g.76878092G>A, NC_000001.10:g.76878092G>T, NM_152996.4:c.613G>A, NM_152996.4:c.613G>T, NM_152996.3:c.613G>A, NM_152996.3:c.613G>T, NM_152996.2:c.613G>A, NM_152996.2:c.613G>T, XM_017000937.3:c.667G>A, XM_017000937.3:c.667G>T, XM_017000937.2:c.667G>A, XM_017000937.2:c.667G>T, XM_017000937.1:c.667G>A, XM_017000937.1:c.667G>T, XM_017000941.3:c.349G>A, XM_017000941.3:c.349G>T, XM_017000941.2:c.349G>A, XM_017000941.2:c.349G>T, XM_017000941.1:c.349G>A, XM_017000941.1:c.349G>T, NM_001349109.3:c.613G>A, NM_001349109.3:c.613G>T, NM_001349109.2:c.613G>A, NM_001349109.2:c.613G>T, NM_001349109.1:c.613G>A, NM_001349109.1:c.613G>T, NM_001160011.3:c.613G>A, NM_001160011.3:c.613G>T, NM_001160011.2:c.613G>A, NM_001160011.2:c.613G>T, NM_001160011.1:c.613G>A, NM_001160011.1:c.613G>T, XM_017000939.2:c.667G>A, XM_017000939.2:c.667G>T, XM_017000939.1:c.667G>A, XM_017000939.1:c.667G>T, NM_001349106.2:c.349G>A, NM_001349106.2:c.349G>T, NM_001349106.1:c.349G>A, NM_001349106.1:c.349G>T, NM_001349111.2:c.649G>A, NM_001349111.2:c.649G>T, NM_001349111.1:c.649G>A, NM_001349111.1:c.649G>T, NR_146056.2:n.734G>A, NR_146056.2:n.734G>T, NR_146056.1:n.796G>A, NR_146056.1:n.796G>T, NM_001349107.2:c.613G>A, NM_001349107.2:c.613G>T, NM_001349107.1:c.613G>A, NM_001349107.1:c.613G>T, NM_001349108.2:c.418G>A, NM_001349108.2:c.418G>T, NM_001349108.1:c.418G>A, NM_001349108.1:c.418G>T, NM_001349105.2:c.418G>A, NM_001349105.2:c.418G>T, NM_001349105.1:c.418G>A, NM_001349105.1:c.418G>T, NM_001349110.2:c.613G>A, NM_001349110.2:c.613G>T, NM_001349110.1:c.613G>A, NM_001349110.1:c.613G>T, XM_047417095.1:c.613G>A, XM_047417095.1:c.613G>T, XM_047417099.1:c.649G>A, XM_047417099.1:c.649G>T, NP_694541.2:p.Gly205Arg, NP_694541.2:p.Gly205Trp, XP_016856426.1:p.Gly223Arg, XP_016856426.1:p.Gly223Trp, XP_016856430.1:p.Gly117Arg, XP_016856430.1:p.Gly117Trp, NP_001336038.1:p.Gly205Arg, NP_001336038.1:p.Gly205Trp, NP_001153483.1:p.Gly205Arg, NP_001153483.1:p.Gly205Trp, XP_016856428.1:p.Gly223Arg, XP_016856428.1:p.Gly223Trp, NP_001336035.1:p.Gly117Arg, NP_001336035.1:p.Gly117Trp, NP_001336040.1:p.Gly217Arg, NP_001336040.1:p.Gly217Trp, NP_001336036.1:p.Gly205Arg, NP_001336036.1:p.Gly205Trp, NP_001336037.1:p.Gly140Arg, NP_001336037.1:p.Gly140Trp, NP_001336034.1:p.Gly140Arg, NP_001336034.1:p.Gly140Trp, NP_001336039.1:p.Gly205Arg, NP_001336039.1:p.Gly205Trp, XP_047273051.1:p.Gly205Arg, XP_047273051.1:p.Gly205Trp, XP_047273055.1:p.Gly217Arg, XP_047273055.1:p.Gly217Trp

                              15.

                              rs1399900890 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                1:76313968 (GRCh38)
                                1:76779653 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:76313967:A:T
                                Gene:
                                ST6GALNAC3 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.76313968A>T, NC_000001.10:g.76779653A>T, NM_152996.4:c.182A>T, NM_152996.3:c.182A>T, NM_152996.2:c.182A>T, XM_017000937.3:c.236A>T, XM_017000937.2:c.236A>T, XM_017000937.1:c.236A>T, XM_017000941.3:c.-83A>T, XM_017000941.2:c.-83A>T, XM_017000941.1:c.-83A>T, NM_001349109.3:c.182A>T, NM_001349109.2:c.182A>T, NM_001349109.1:c.182A>T, NM_001160011.3:c.182A>T, NM_001160011.2:c.182A>T, NM_001160011.1:c.182A>T, XM_017000939.2:c.236A>T, XM_017000939.1:c.236A>T, NM_001349106.2:c.-83A>T, NM_001349106.1:c.-83A>T, NM_001349111.2:c.218A>T, NM_001349111.1:c.218A>T, NR_146056.2:n.303A>T, NR_146056.1:n.365A>T, NM_001349107.2:c.182A>T, NM_001349107.1:c.182A>T, NM_001349110.2:c.182A>T, NM_001349110.1:c.182A>T, XM_047417095.1:c.182A>T, XM_047417099.1:c.218A>T, NP_694541.2:p.His61Leu, XP_016856426.1:p.His79Leu, NP_001336038.1:p.His61Leu, NP_001153483.1:p.His61Leu, XP_016856428.1:p.His79Leu, NP_001336040.1:p.His73Leu, NP_001336036.1:p.His61Leu, NP_001336039.1:p.His61Leu, XP_047273051.1:p.His61Leu, XP_047273055.1:p.His73Leu

                                16.

                                rs1396207236 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:76412401 (GRCh38)
                                  1:76878086 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:76412400:G:A
                                  Gene:
                                  ST6GALNAC3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  HGVS:
                                  NC_000001.11:g.76412401G>A, NC_000001.10:g.76878086G>A, NM_152996.4:c.607G>A, NM_152996.3:c.607G>A, NM_152996.2:c.607G>A, XM_017000937.3:c.661G>A, XM_017000937.2:c.661G>A, XM_017000937.1:c.661G>A, XM_017000941.3:c.343G>A, XM_017000941.2:c.343G>A, XM_017000941.1:c.343G>A, NM_001349109.3:c.607G>A, NM_001349109.2:c.607G>A, NM_001349109.1:c.607G>A, NM_001160011.3:c.607G>A, NM_001160011.2:c.607G>A, NM_001160011.1:c.607G>A, XM_017000939.2:c.661G>A, XM_017000939.1:c.661G>A, NM_001349106.2:c.343G>A, NM_001349106.1:c.343G>A, NM_001349111.2:c.643G>A, NM_001349111.1:c.643G>A, NR_146056.2:n.728G>A, NR_146056.1:n.790G>A, NM_001349107.2:c.607G>A, NM_001349107.1:c.607G>A, NM_001349108.2:c.412G>A, NM_001349108.1:c.412G>A, NM_001349105.2:c.412G>A, NM_001349105.1:c.412G>A, NM_001349110.2:c.607G>A, NM_001349110.1:c.607G>A, XM_047417095.1:c.607G>A, XM_047417099.1:c.643G>A, NP_694541.2:p.Glu203Lys, XP_016856426.1:p.Glu221Lys, XP_016856430.1:p.Glu115Lys, NP_001336038.1:p.Glu203Lys, NP_001153483.1:p.Glu203Lys, XP_016856428.1:p.Glu221Lys, NP_001336035.1:p.Glu115Lys, NP_001336040.1:p.Glu215Lys, NP_001336036.1:p.Glu203Lys, NP_001336037.1:p.Glu138Lys, NP_001336034.1:p.Glu138Lys, NP_001336039.1:p.Glu203Lys, XP_047273051.1:p.Glu203Lys, XP_047273055.1:p.Glu215Lys

                                  17.

                                  rs1390391101 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:76412087 (GRCh38)
                                    1:76877772 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:76412086:T:C
                                    Gene:
                                    ST6GALNAC3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_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_000001.11:g.76412087T>C, NC_000001.10:g.76877772T>C, NM_152996.4:c.293T>C, NM_152996.3:c.293T>C, NM_152996.2:c.293T>C, XM_017000937.3:c.347T>C, XM_017000937.2:c.347T>C, XM_017000937.1:c.347T>C, XM_017000941.3:c.29T>C, XM_017000941.2:c.29T>C, XM_017000941.1:c.29T>C, NM_001349109.3:c.293T>C, NM_001349109.2:c.293T>C, NM_001349109.1:c.293T>C, NM_001160011.3:c.293T>C, NM_001160011.2:c.293T>C, NM_001160011.1:c.293T>C, XM_017000939.2:c.347T>C, XM_017000939.1:c.347T>C, NM_001349106.2:c.29T>C, NM_001349106.1:c.29T>C, NM_001349111.2:c.329T>C, NM_001349111.1:c.329T>C, NR_146056.2:n.414T>C, NR_146056.1:n.476T>C, NM_001349107.2:c.293T>C, NM_001349107.1:c.293T>C, NM_001349108.2:c.98T>C, NM_001349108.1:c.98T>C, NM_001349105.2:c.98T>C, NM_001349105.1:c.98T>C, NM_001349110.2:c.293T>C, NM_001349110.1:c.293T>C, XM_047417095.1:c.293T>C, XM_047417099.1:c.329T>C, NP_694541.2:p.Ile98Thr, XP_016856426.1:p.Ile116Thr, XP_016856430.1:p.Ile10Thr, NP_001336038.1:p.Ile98Thr, NP_001153483.1:p.Ile98Thr, XP_016856428.1:p.Ile116Thr, NP_001336035.1:p.Ile10Thr, NP_001336040.1:p.Ile110Thr, NP_001336036.1:p.Ile98Thr, NP_001336037.1:p.Ile33Thr, NP_001336034.1:p.Ile33Thr, NP_001336039.1:p.Ile98Thr, XP_047273051.1:p.Ile98Thr, XP_047273055.1:p.Ile110Thr

                                    18.

                                    rs1378098227 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      1:76412231 (GRCh38)
                                      1:76877916 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:76412230:A:T
                                      Gene:
                                      ST6GALNAC3 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.76412231A>T, NC_000001.10:g.76877916A>T, NM_152996.4:c.437A>T, NM_152996.3:c.437A>T, NM_152996.2:c.437A>T, XM_017000937.3:c.491A>T, XM_017000937.2:c.491A>T, XM_017000937.1:c.491A>T, XM_017000941.3:c.173A>T, XM_017000941.2:c.173A>T, XM_017000941.1:c.173A>T, NM_001349109.3:c.437A>T, NM_001349109.2:c.437A>T, NM_001349109.1:c.437A>T, NM_001160011.3:c.437A>T, NM_001160011.2:c.437A>T, NM_001160011.1:c.437A>T, XM_017000939.2:c.491A>T, XM_017000939.1:c.491A>T, NM_001349106.2:c.173A>T, NM_001349106.1:c.173A>T, NM_001349111.2:c.473A>T, NM_001349111.1:c.473A>T, NR_146056.2:n.558A>T, NR_146056.1:n.620A>T, NM_001349107.2:c.437A>T, NM_001349107.1:c.437A>T, NM_001349108.2:c.242A>T, NM_001349108.1:c.242A>T, NM_001349105.2:c.242A>T, NM_001349105.1:c.242A>T, NM_001349110.2:c.437A>T, NM_001349110.1:c.437A>T, XM_047417095.1:c.437A>T, XM_047417099.1:c.473A>T, NP_694541.2:p.Glu146Val, XP_016856426.1:p.Glu164Val, XP_016856430.1:p.Glu58Val, NP_001336038.1:p.Glu146Val, NP_001153483.1:p.Glu146Val, XP_016856428.1:p.Glu164Val, NP_001336035.1:p.Glu58Val, NP_001336040.1:p.Glu158Val, NP_001336036.1:p.Glu146Val, NP_001336037.1:p.Glu81Val, NP_001336034.1:p.Glu81Val, NP_001336039.1:p.Glu146Val, XP_047273051.1:p.Glu146Val, XP_047273055.1:p.Glu158Val

                                      19.

                                      rs1371067961 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:76412323 (GRCh38)
                                        1:76878008 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:76412322:G:A
                                        Gene:
                                        ST6GALNAC3 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.76412323G>A, NC_000001.10:g.76878008G>A, NM_152996.4:c.529G>A, NM_152996.3:c.529G>A, NM_152996.2:c.529G>A, XM_017000937.3:c.583G>A, XM_017000937.2:c.583G>A, XM_017000937.1:c.583G>A, XM_017000941.3:c.265G>A, XM_017000941.2:c.265G>A, XM_017000941.1:c.265G>A, NM_001349109.3:c.529G>A, NM_001349109.2:c.529G>A, NM_001349109.1:c.529G>A, NM_001160011.3:c.529G>A, NM_001160011.2:c.529G>A, NM_001160011.1:c.529G>A, XM_017000939.2:c.583G>A, XM_017000939.1:c.583G>A, NM_001349106.2:c.265G>A, NM_001349106.1:c.265G>A, NM_001349111.2:c.565G>A, NM_001349111.1:c.565G>A, NR_146056.2:n.650G>A, NR_146056.1:n.712G>A, NM_001349107.2:c.529G>A, NM_001349107.1:c.529G>A, NM_001349108.2:c.334G>A, NM_001349108.1:c.334G>A, NM_001349105.2:c.334G>A, NM_001349105.1:c.334G>A, NM_001349110.2:c.529G>A, NM_001349110.1:c.529G>A, XM_047417095.1:c.529G>A, XM_047417099.1:c.565G>A, NP_694541.2:p.Val177Ile, XP_016856426.1:p.Val195Ile, XP_016856430.1:p.Val89Ile, NP_001336038.1:p.Val177Ile, NP_001153483.1:p.Val177Ile, XP_016856428.1:p.Val195Ile, NP_001336035.1:p.Val89Ile, NP_001336040.1:p.Val189Ile, NP_001336036.1:p.Val177Ile, NP_001336037.1:p.Val112Ile, NP_001336034.1:p.Val112Ile, NP_001336039.1:p.Val177Ile, XP_047273051.1:p.Val177Ile, XP_047273055.1:p.Val189Ile

                                        20.

                                        rs1362228594 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:76412271 (GRCh38)
                                          1:76877956 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:76412270:C:T
                                          Gene:
                                          ST6GALNAC3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.76412271C>T, NC_000001.10:g.76877956C>T, NM_152996.4:c.477C>T, NM_152996.3:c.477C>T, NM_152996.2:c.477C>T, XM_017000937.3:c.531C>T, XM_017000937.2:c.531C>T, XM_017000937.1:c.531C>T, XM_017000941.3:c.213C>T, XM_017000941.2:c.213C>T, XM_017000941.1:c.213C>T, NM_001349109.3:c.477C>T, NM_001349109.2:c.477C>T, NM_001349109.1:c.477C>T, NM_001160011.3:c.477C>T, NM_001160011.2:c.477C>T, NM_001160011.1:c.477C>T, XM_017000939.2:c.531C>T, XM_017000939.1:c.531C>T, NM_001349106.2:c.213C>T, NM_001349106.1:c.213C>T, NM_001349111.2:c.513C>T, NM_001349111.1:c.513C>T, NR_146056.2:n.598C>T, NR_146056.1:n.660C>T, NM_001349107.2:c.477C>T, NM_001349107.1:c.477C>T, NM_001349108.2:c.282C>T, NM_001349108.1:c.282C>T, NM_001349105.2:c.282C>T, NM_001349105.1:c.282C>T, NM_001349110.2:c.477C>T, NM_001349110.1:c.477C>T, XM_047417095.1:c.477C>T, XM_047417099.1:c.513C>T

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