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Items: 1 to 20 of 296

1.

rs1489946674 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:126408166 (GRCh38)
    11:126278061 (GRCh37)
    Canonical SPDI:
    NC_000011.10:126408165:G:A
    Gene:
    ST3GAL4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.126408166G>A, NC_000011.9:g.126278061G>A, NG_053025.1:g.57522G>A, NM_006278.3:c.397G>A, NM_006278.2:c.397G>A, NM_001348397.2:c.472G>A, NM_001348397.1:c.472G>A, NR_145671.2:n.626G>A, NR_145671.1:n.667G>A, NM_001254759.2:c.406G>A, NM_001254759.1:c.406G>A, NM_001348396.2:c.472G>A, NM_001348396.1:c.472G>A, NM_001348399.2:c.409G>A, NM_001348399.1:c.409G>A, NM_001254757.2:c.409G>A, NM_001254757.1:c.409G>A, NM_001348400.2:c.397G>A, NM_001348400.1:c.397G>A, NM_001254758.2:c.409G>A, NM_001254758.1:c.409G>A, NM_001348398.2:c.397G>A, NM_001348398.1:c.397G>A, XM_024448658.2:c.409G>A, XM_024448658.1:c.409G>A, XM_047427426.1:c.460G>A, XM_047427422.1:c.478G>A, XM_047427424.1:c.466G>A, XM_047427425.1:c.460G>A, XM_047427423.1:c.472G>A, XM_047427421.1:c.520G>A, XM_047427418.1:c.409G>A, XM_047427420.1:c.397G>A, NP_006269.1:p.Ala133Thr, NP_001335326.1:p.Ala158Thr, NP_001241688.1:p.Ala136Thr, NP_001335325.1:p.Ala158Thr, NP_001335328.1:p.Ala137Thr, NP_001241686.1:p.Ala137Thr, NP_001335329.1:p.Ala133Thr, NP_001241687.1:p.Ala137Thr, NP_001335327.1:p.Ala133Thr, XP_024304426.1:p.Ala137Thr, XP_047283382.1:p.Ala154Thr, XP_047283378.1:p.Ala160Thr, XP_047283380.1:p.Ala156Thr, XP_047283381.1:p.Ala154Thr, XP_047283379.1:p.Ala158Thr, XP_047283377.1:p.Ala174Thr, XP_047283374.1:p.Ala137Thr, XP_047283376.1:p.Ala133Thr

    2.

    rs1488987536 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      11:126414092 (GRCh38)
      11:126283987 (GRCh37)
      Canonical SPDI:
      NC_000011.10:126414091:GGG:GG
      Gene:
      ST3GAL4 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,stop_gained
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      HGVS:
      NC_000011.10:g.126414094del, NC_000011.9:g.126283989del, NG_053025.1:g.63450del, NM_006278.3:c.*47del, NM_006278.2:c.*47del, NM_001348397.2:c.*47del, NM_001348397.1:c.*47del, NR_145671.2:n.1441del, NR_145671.1:n.1482del, NM_001254759.2:c.*47del, NM_001254759.1:c.*47del, NM_001348396.2:c.*47del, NM_001348396.1:c.*47del, NM_001348399.2:c.*47del, NM_001348399.1:c.*47del, NM_001254757.2:c.*47del, NM_001254757.1:c.*47del, NM_001348400.2:c.*47del, NM_001348400.1:c.*47del, NM_001254758.2:c.*47del, NM_001254758.1:c.*47del, NM_001348398.2:c.955del, NM_001348398.1:c.955del, XM_024448658.2:c.*47del, XM_024448658.1:c.*47del, XM_047427426.1:c.*47del, XM_047427422.1:c.*47del, XM_047427424.1:c.*47del, XM_047427425.1:c.*47del, XM_047427423.1:c.*47del, XM_047427421.1:c.*47del, XM_047427418.1:c.*47del, XM_047427420.1:c.*47del, NP_001335327.1:p.Trp318_Val319insTer

      3.

      rs1488134186 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:126407343 (GRCh38)
        11:126277238 (GRCh37)
        Canonical SPDI:
        NC_000011.10:126407342:G:A
        Gene:
        ST3GAL4 (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=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000011.10:g.126407343G>A, NC_000011.9:g.126277238G>A, NG_053025.1:g.56699G>A, NM_006278.3:c.262G>A, NM_006278.2:c.262G>A, NM_001348397.2:c.337G>A, NM_001348397.1:c.337G>A, NR_145671.2:n.491G>A, NR_145671.1:n.532G>A, NM_001254759.2:c.271G>A, NM_001254759.1:c.271G>A, NM_001348396.2:c.337G>A, NM_001348396.1:c.337G>A, NM_001348399.2:c.274G>A, NM_001348399.1:c.274G>A, NM_001254757.2:c.274G>A, NM_001254757.1:c.274G>A, NM_001348400.2:c.262G>A, NM_001348400.1:c.262G>A, NM_001254758.2:c.274G>A, NM_001254758.1:c.274G>A, NM_001348398.2:c.262G>A, NM_001348398.1:c.262G>A, XM_024448658.2:c.274G>A, XM_024448658.1:c.274G>A, XM_047427426.1:c.325G>A, XM_047427422.1:c.343G>A, XM_047427424.1:c.331G>A, XM_047427425.1:c.325G>A, XM_047427423.1:c.337G>A, XM_047427421.1:c.385G>A, XM_047427418.1:c.274G>A, XM_047427420.1:c.262G>A, NP_006269.1:p.Gly88Arg, NP_001335326.1:p.Gly113Arg, NP_001241688.1:p.Gly91Arg, NP_001335325.1:p.Gly113Arg, NP_001335328.1:p.Gly92Arg, NP_001241686.1:p.Gly92Arg, NP_001335329.1:p.Gly88Arg, NP_001241687.1:p.Gly92Arg, NP_001335327.1:p.Gly88Arg, XP_024304426.1:p.Gly92Arg, XP_047283382.1:p.Gly109Arg, XP_047283378.1:p.Gly115Arg, XP_047283380.1:p.Gly111Arg, XP_047283381.1:p.Gly109Arg, XP_047283379.1:p.Gly113Arg, XP_047283377.1:p.Gly129Arg, XP_047283374.1:p.Gly92Arg, XP_047283376.1:p.Gly88Arg

        4.

        rs1485314223 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:126407600 (GRCh38)
          11:126277495 (GRCh37)
          Canonical SPDI:
          NC_000011.10:126407599:A:G
          Gene:
          ST3GAL4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000047/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.126407600A>G, NC_000011.9:g.126277495A>G, NG_053025.1:g.56956A>G, NM_006278.3:c.295A>G, NM_006278.2:c.295A>G, NM_001348397.2:c.370A>G, NM_001348397.1:c.370A>G, NR_145671.2:n.524A>G, NR_145671.1:n.565A>G, NM_001254759.2:c.304A>G, NM_001254759.1:c.304A>G, NM_001348396.2:c.370A>G, NM_001348396.1:c.370A>G, NM_001348399.2:c.307A>G, NM_001348399.1:c.307A>G, NM_001254757.2:c.307A>G, NM_001254757.1:c.307A>G, NM_001348400.2:c.295A>G, NM_001348400.1:c.295A>G, NM_001254758.2:c.307A>G, NM_001254758.1:c.307A>G, NM_001348398.2:c.295A>G, NM_001348398.1:c.295A>G, XM_024448658.2:c.307A>G, XM_024448658.1:c.307A>G, XM_047427426.1:c.358A>G, XM_047427422.1:c.376A>G, XM_047427424.1:c.364A>G, XM_047427425.1:c.358A>G, XM_047427423.1:c.370A>G, XM_047427421.1:c.418A>G, XM_047427418.1:c.307A>G, XM_047427420.1:c.295A>G, NP_006269.1:p.Ile99Val, NP_001335326.1:p.Ile124Val, NP_001241688.1:p.Ile102Val, NP_001335325.1:p.Ile124Val, NP_001335328.1:p.Ile103Val, NP_001241686.1:p.Ile103Val, NP_001335329.1:p.Ile99Val, NP_001241687.1:p.Ile103Val, NP_001335327.1:p.Ile99Val, XP_024304426.1:p.Ile103Val, XP_047283382.1:p.Ile120Val, XP_047283378.1:p.Ile126Val, XP_047283380.1:p.Ile122Val, XP_047283381.1:p.Ile120Val, XP_047283379.1:p.Ile124Val, XP_047283377.1:p.Ile140Val, XP_047283374.1:p.Ile103Val, XP_047283376.1:p.Ile99Val

          5.

          rs1481660672 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            11:126408445 (GRCh38)
            11:126278340 (GRCh37)
            Canonical SPDI:
            NC_000011.10:126408444:C:T
            Gene:
            ST3GAL4 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000011.10:g.126408445C>T, NC_000011.9:g.126278340C>T, NG_053025.1:g.57801C>T, NM_006278.3:c.564C>T, NM_006278.2:c.564C>T, NM_001348397.2:c.639C>T, NM_001348397.1:c.639C>T, NR_145671.2:n.793C>T, NR_145671.1:n.834C>T, NM_001254759.2:c.573C>T, NM_001254759.1:c.573C>T, NM_001348396.2:c.639C>T, NM_001348396.1:c.639C>T, NM_001348399.2:c.576C>T, NM_001348399.1:c.576C>T, NM_001254757.2:c.576C>T, NM_001254757.1:c.576C>T, NM_001348400.2:c.564C>T, NM_001348400.1:c.564C>T, NM_001254758.2:c.576C>T, NM_001254758.1:c.576C>T, NM_001348398.2:c.564C>T, NM_001348398.1:c.564C>T, XM_024448658.2:c.576C>T, XM_024448658.1:c.576C>T, XM_047427426.1:c.627C>T, XM_047427422.1:c.645C>T, XM_047427424.1:c.633C>T, XM_047427425.1:c.627C>T, XM_047427423.1:c.639C>T, XM_047427421.1:c.687C>T, XM_047427418.1:c.576C>T, XM_047427420.1:c.564C>T

            6.

            rs1472257738 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              11:126409311 (GRCh38)
              11:126279206 (GRCh37)
              Canonical SPDI:
              NC_000011.10:126409310:T:A
              Gene:
              ST3GAL4 (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=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000011.10:g.126409311T>A, NC_000011.9:g.126279206T>A, NG_053025.1:g.58667T>A, NM_006278.3:c.659T>A, NM_006278.2:c.659T>A, NM_001348397.2:c.734T>A, NM_001348397.1:c.734T>A, NR_145671.2:n.888T>A, NR_145671.1:n.929T>A, NM_001254759.2:c.668T>A, NM_001254759.1:c.668T>A, NM_001348396.2:c.734T>A, NM_001348396.1:c.734T>A, NM_001348399.2:c.671T>A, NM_001348399.1:c.671T>A, NM_001254757.2:c.671T>A, NM_001254757.1:c.671T>A, NM_001348400.2:c.659T>A, NM_001348400.1:c.659T>A, NM_001254758.2:c.671T>A, NM_001254758.1:c.671T>A, NM_001348398.2:c.659T>A, NM_001348398.1:c.659T>A, XM_024448658.2:c.671T>A, XM_024448658.1:c.671T>A, XM_047427426.1:c.722T>A, XM_047427422.1:c.740T>A, XM_047427424.1:c.728T>A, XM_047427425.1:c.722T>A, XM_047427423.1:c.734T>A, XM_047427421.1:c.782T>A, XM_047427418.1:c.671T>A, XM_047427420.1:c.659T>A, NP_006269.1:p.Val220Asp, NP_001335326.1:p.Val245Asp, NP_001241688.1:p.Val223Asp, NP_001335325.1:p.Val245Asp, NP_001335328.1:p.Val224Asp, NP_001241686.1:p.Val224Asp, NP_001335329.1:p.Val220Asp, NP_001241687.1:p.Val224Asp, NP_001335327.1:p.Val220Asp, XP_024304426.1:p.Val224Asp, XP_047283382.1:p.Val241Asp, XP_047283378.1:p.Val247Asp, XP_047283380.1:p.Val243Asp, XP_047283381.1:p.Val241Asp, XP_047283379.1:p.Val245Asp, XP_047283377.1:p.Val261Asp, XP_047283374.1:p.Val224Asp, XP_047283376.1:p.Val220Asp

              7.

              rs1470966002 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:126406167 (GRCh38)
                11:126276062 (GRCh37)
                Canonical SPDI:
                NC_000011.10:126406166:G:A
                Gene:
                ST3GAL4 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                HGVS:

                8.

                rs1468689012 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  11:126408376 (GRCh38)
                  11:126278271 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:126408375:C:G
                  Gene:
                  ST3GAL4 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000011.10:g.126408376C>G, NC_000011.9:g.126278271C>G, NG_053025.1:g.57732C>G, NM_006278.3:c.495C>G, NM_006278.2:c.495C>G, NM_001348397.2:c.570C>G, NM_001348397.1:c.570C>G, NR_145671.2:n.724C>G, NR_145671.1:n.765C>G, NM_001254759.2:c.504C>G, NM_001254759.1:c.504C>G, NM_001348396.2:c.570C>G, NM_001348396.1:c.570C>G, NM_001348399.2:c.507C>G, NM_001348399.1:c.507C>G, NM_001254757.2:c.507C>G, NM_001254757.1:c.507C>G, NM_001348400.2:c.495C>G, NM_001348400.1:c.495C>G, NM_001254758.2:c.507C>G, NM_001254758.1:c.507C>G, NM_001348398.2:c.495C>G, NM_001348398.1:c.495C>G, XM_024448658.2:c.507C>G, XM_024448658.1:c.507C>G, XM_047427426.1:c.558C>G, XM_047427422.1:c.576C>G, XM_047427424.1:c.564C>G, XM_047427425.1:c.558C>G, XM_047427423.1:c.570C>G, XM_047427421.1:c.618C>G, XM_047427418.1:c.507C>G, XM_047427420.1:c.495C>G, NP_006269.1:p.Tyr165Ter, NP_001335326.1:p.Tyr190Ter, NP_001241688.1:p.Tyr168Ter, NP_001335325.1:p.Tyr190Ter, NP_001335328.1:p.Tyr169Ter, NP_001241686.1:p.Tyr169Ter, NP_001335329.1:p.Tyr165Ter, NP_001241687.1:p.Tyr169Ter, NP_001335327.1:p.Tyr165Ter, XP_024304426.1:p.Tyr169Ter, XP_047283382.1:p.Tyr186Ter, XP_047283378.1:p.Tyr192Ter, XP_047283380.1:p.Tyr188Ter, XP_047283381.1:p.Tyr186Ter, XP_047283379.1:p.Tyr190Ter, XP_047283377.1:p.Tyr206Ter, XP_047283374.1:p.Tyr169Ter, XP_047283376.1:p.Tyr165Ter

                  9.

                  rs1458895515 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    11:126407630 (GRCh38)
                    11:126277525 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:126407629:C:G
                    Gene:
                    ST3GAL4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.126407630C>G, NC_000011.9:g.126277525C>G, NG_053025.1:g.56986C>G, NM_006278.3:c.325C>G, NM_006278.2:c.325C>G, NM_001348397.2:c.400C>G, NM_001348397.1:c.400C>G, NR_145671.2:n.554C>G, NR_145671.1:n.595C>G, NM_001254759.2:c.334C>G, NM_001254759.1:c.334C>G, NM_001348396.2:c.400C>G, NM_001348396.1:c.400C>G, NM_001348399.2:c.337C>G, NM_001348399.1:c.337C>G, NM_001254757.2:c.337C>G, NM_001254757.1:c.337C>G, NM_001348400.2:c.325C>G, NM_001348400.1:c.325C>G, NM_001254758.2:c.337C>G, NM_001254758.1:c.337C>G, NM_001348398.2:c.325C>G, NM_001348398.1:c.325C>G, XM_024448658.2:c.337C>G, XM_024448658.1:c.337C>G, XM_047427426.1:c.388C>G, XM_047427422.1:c.406C>G, XM_047427424.1:c.394C>G, XM_047427425.1:c.388C>G, XM_047427423.1:c.400C>G, XM_047427421.1:c.448C>G, XM_047427418.1:c.337C>G, XM_047427420.1:c.325C>G, NP_006269.1:p.Gln109Glu, NP_001335326.1:p.Gln134Glu, NP_001241688.1:p.Gln112Glu, NP_001335325.1:p.Gln134Glu, NP_001335328.1:p.Gln113Glu, NP_001241686.1:p.Gln113Glu, NP_001335329.1:p.Gln109Glu, NP_001241687.1:p.Gln113Glu, NP_001335327.1:p.Gln109Glu, XP_024304426.1:p.Gln113Glu, XP_047283382.1:p.Gln130Glu, XP_047283378.1:p.Gln136Glu, XP_047283380.1:p.Gln132Glu, XP_047283381.1:p.Gln130Glu, XP_047283379.1:p.Gln134Glu, XP_047283377.1:p.Gln150Glu, XP_047283374.1:p.Gln113Glu, XP_047283376.1:p.Gln109Glu

                    10.

                    rs1458371414 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:126408464 (GRCh38)
                      11:126278359 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:126408463:T:C
                      Gene:
                      ST3GAL4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.126408464T>C, NC_000011.9:g.126278359T>C, NG_053025.1:g.57820T>C, NM_006278.3:c.583T>C, NM_006278.2:c.583T>C, NM_001348397.2:c.658T>C, NM_001348397.1:c.658T>C, NR_145671.2:n.812T>C, NR_145671.1:n.853T>C, NM_001254759.2:c.592T>C, NM_001254759.1:c.592T>C, NM_001348396.2:c.658T>C, NM_001348396.1:c.658T>C, NM_001348399.2:c.595T>C, NM_001348399.1:c.595T>C, NM_001254757.2:c.595T>C, NM_001254757.1:c.595T>C, NM_001348400.2:c.583T>C, NM_001348400.1:c.583T>C, NM_001254758.2:c.595T>C, NM_001254758.1:c.595T>C, NM_001348398.2:c.583T>C, NM_001348398.1:c.583T>C, XM_024448658.2:c.595T>C, XM_024448658.1:c.595T>C, XM_047427426.1:c.646T>C, XM_047427422.1:c.664T>C, XM_047427424.1:c.652T>C, XM_047427425.1:c.646T>C, XM_047427423.1:c.658T>C, XM_047427421.1:c.706T>C, XM_047427418.1:c.595T>C, XM_047427420.1:c.583T>C, NP_006269.1:p.Trp195Arg, NP_001335326.1:p.Trp220Arg, NP_001241688.1:p.Trp198Arg, NP_001335325.1:p.Trp220Arg, NP_001335328.1:p.Trp199Arg, NP_001241686.1:p.Trp199Arg, NP_001335329.1:p.Trp195Arg, NP_001241687.1:p.Trp199Arg, NP_001335327.1:p.Trp195Arg, XP_024304426.1:p.Trp199Arg, XP_047283382.1:p.Trp216Arg, XP_047283378.1:p.Trp222Arg, XP_047283380.1:p.Trp218Arg, XP_047283381.1:p.Trp216Arg, XP_047283379.1:p.Trp220Arg, XP_047283377.1:p.Trp236Arg, XP_047283374.1:p.Trp199Arg, XP_047283376.1:p.Trp195Arg

                      11.

                      rs1453916218 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAG>- [Show Flanks]
                        Chromosome:
                        11:126408491 (GRCh38)
                        11:126278386 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:126408487:AAGAAG:AAG
                        Gene:
                        ST3GAL4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
                        Validated:
                        by frequency
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.126408488AAG[1], NC_000011.9:g.126278383AAG[1], NG_053025.1:g.57844AAG[1], NM_006278.3:c.607AAG[1], NM_006278.2:c.607AAG[1], NM_001348397.2:c.682AAG[1], NM_001348397.1:c.682AAG[1], NR_145671.2:n.836AAG[1], NR_145671.1:n.877AAG[1], NM_001254759.2:c.616AAG[1], NM_001254759.1:c.616AAG[1], NM_001348396.2:c.682AAG[1], NM_001348396.1:c.682AAG[1], NM_001348399.2:c.619AAG[1], NM_001348399.1:c.619AAG[1], NM_001254757.2:c.619AAG[1], NM_001254757.1:c.619AAG[1], NM_001348400.2:c.607AAG[1], NM_001348400.1:c.607AAG[1], NM_001254758.2:c.619AAG[1], NM_001254758.1:c.619AAG[1], NM_001348398.2:c.607AAG[1], NM_001348398.1:c.607AAG[1], XM_024448658.2:c.619AAG[1], XM_024448658.1:c.619AAG[1], XM_047427426.1:c.670AAG[1], XM_047427422.1:c.688AAG[1], XM_047427424.1:c.676AAG[1], XM_047427425.1:c.670AAG[1], XM_047427423.1:c.682AAG[1], XM_047427421.1:c.730AAG[1], XM_047427418.1:c.619AAG[1], XM_047427420.1:c.607AAG[1], NP_006269.1:p.Lys204del, NP_001335326.1:p.Lys229del, NP_001241688.1:p.Lys207del, NP_001335325.1:p.Lys229del, NP_001335328.1:p.Lys208del, NP_001241686.1:p.Lys208del, NP_001335329.1:p.Lys204del, NP_001241687.1:p.Lys208del, NP_001335327.1:p.Lys204del, XP_024304426.1:p.Lys208del, XP_047283382.1:p.Lys225del, XP_047283378.1:p.Lys231del, XP_047283380.1:p.Lys227del, XP_047283381.1:p.Lys225del, XP_047283379.1:p.Lys229del, XP_047283377.1:p.Lys245del, XP_047283374.1:p.Lys208del, XP_047283376.1:p.Lys204del

                        12.

                        rs1449869042 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:126406976 (GRCh38)
                          11:126276871 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:126406975:G:A
                          Gene:
                          ST3GAL4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.126406976G>A, NC_000011.9:g.126276871G>A, NG_053025.1:g.56332G>A, NM_006278.3:c.123G>A, NM_006278.2:c.123G>A, NM_001348397.2:c.198G>A, NM_001348397.1:c.198G>A, NR_145671.2:n.352G>A, NR_145671.1:n.393G>A, NM_001254759.2:c.132G>A, NM_001254759.1:c.132G>A, NM_001348396.2:c.198G>A, NM_001348396.1:c.198G>A, NM_001348399.2:c.135G>A, NM_001348399.1:c.135G>A, NM_001254757.2:c.135G>A, NM_001254757.1:c.135G>A, NM_001348400.2:c.123G>A, NM_001348400.1:c.123G>A, NM_001254758.2:c.135G>A, NM_001254758.1:c.135G>A, NM_001348398.2:c.123G>A, NM_001348398.1:c.123G>A, XM_024448658.2:c.135G>A, XM_024448658.1:c.135G>A, XM_047427426.1:c.186G>A, XM_047427422.1:c.204G>A, XM_047427424.1:c.192G>A, XM_047427425.1:c.186G>A, XM_047427423.1:c.198G>A, XM_047427421.1:c.246G>A, XM_047427418.1:c.135G>A, XM_047427420.1:c.123G>A

                          13.

                          rs1446808112 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            11:126408398 (GRCh38)
                            11:126278293 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:126408397:C:A
                            Gene:
                            ST3GAL4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.126408398C>A, NC_000011.9:g.126278293C>A, NG_053025.1:g.57754C>A, NM_006278.3:c.517C>A, NM_006278.2:c.517C>A, NM_001348397.2:c.592C>A, NM_001348397.1:c.592C>A, NR_145671.2:n.746C>A, NR_145671.1:n.787C>A, NM_001254759.2:c.526C>A, NM_001254759.1:c.526C>A, NM_001348396.2:c.592C>A, NM_001348396.1:c.592C>A, NM_001348399.2:c.529C>A, NM_001348399.1:c.529C>A, NM_001254757.2:c.529C>A, NM_001254757.1:c.529C>A, NM_001348400.2:c.517C>A, NM_001348400.1:c.517C>A, NM_001254758.2:c.529C>A, NM_001254758.1:c.529C>A, NM_001348398.2:c.517C>A, NM_001348398.1:c.517C>A, XM_024448658.2:c.529C>A, XM_024448658.1:c.529C>A, XM_047427426.1:c.580C>A, XM_047427422.1:c.598C>A, XM_047427424.1:c.586C>A, XM_047427425.1:c.580C>A, XM_047427423.1:c.592C>A, XM_047427421.1:c.640C>A, XM_047427418.1:c.529C>A, XM_047427420.1:c.517C>A, NP_006269.1:p.Pro173Thr, NP_001335326.1:p.Pro198Thr, NP_001241688.1:p.Pro176Thr, NP_001335325.1:p.Pro198Thr, NP_001335328.1:p.Pro177Thr, NP_001241686.1:p.Pro177Thr, NP_001335329.1:p.Pro173Thr, NP_001241687.1:p.Pro177Thr, NP_001335327.1:p.Pro173Thr, XP_024304426.1:p.Pro177Thr, XP_047283382.1:p.Pro194Thr, XP_047283378.1:p.Pro200Thr, XP_047283380.1:p.Pro196Thr, XP_047283381.1:p.Pro194Thr, XP_047283379.1:p.Pro198Thr, XP_047283377.1:p.Pro214Thr, XP_047283374.1:p.Pro177Thr, XP_047283376.1:p.Pro173Thr

                            14.

                            rs1442797508 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              11:126414044 (GRCh38)
                              11:126283939 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:126414043:C:G
                              Gene:
                              ST3GAL4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000008/2 (TOPMED)
                              G=0.00006/1 (TOMMO)
                              HGVS:
                              NC_000011.10:g.126414044C>G, NC_000011.9:g.126283939C>G, NG_053025.1:g.63400C>G, NM_006278.3:c.987C>G, NM_006278.2:c.987C>G, NM_001348397.2:c.1062C>G, NM_001348397.1:c.1062C>G, NR_145671.2:n.1391C>G, NR_145671.1:n.1432C>G, NM_001254759.2:c.996C>G, NM_001254759.1:c.996C>G, NM_001348396.2:c.1062C>G, NM_001348396.1:c.1062C>G, NM_001348399.2:c.999C>G, NM_001348399.1:c.999C>G, NM_001254757.2:c.999C>G, NM_001254757.1:c.999C>G, NM_001348400.2:c.987C>G, NM_001348400.1:c.987C>G, NM_001254758.2:c.999C>G, NM_001254758.1:c.999C>G, NM_001348398.2:c.905C>G, NM_001348398.1:c.905C>G, XM_024448658.2:c.999C>G, XM_024448658.1:c.999C>G, XM_047427426.1:c.1050C>G, XM_047427422.1:c.1068C>G, XM_047427424.1:c.1056C>G, XM_047427425.1:c.1050C>G, XM_047427423.1:c.1062C>G, XM_047427421.1:c.1110C>G, XM_047427418.1:c.999C>G, XM_047427420.1:c.987C>G, NP_006269.1:p.Phe329Leu, NP_001335326.1:p.Phe354Leu, NP_001241688.1:p.Phe332Leu, NP_001335325.1:p.Phe354Leu, NP_001335328.1:p.Phe333Leu, NP_001241686.1:p.Phe333Leu, NP_001335329.1:p.Phe329Leu, NP_001241687.1:p.Phe333Leu, NP_001335327.1:p.Ser302Cys, XP_024304426.1:p.Phe333Leu, XP_047283382.1:p.Phe350Leu, XP_047283378.1:p.Phe356Leu, XP_047283380.1:p.Phe352Leu, XP_047283381.1:p.Phe350Leu, XP_047283379.1:p.Phe354Leu, XP_047283377.1:p.Phe370Leu, XP_047283374.1:p.Phe333Leu, XP_047283376.1:p.Phe329Leu

                              15.

                              rs1440420671 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                11:126414059 (GRCh38)
                                11:126283954 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:126414058:G:
                                Gene:
                                ST3GAL4 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.126414059del, NC_000011.9:g.126283954del, NG_053025.1:g.63415del, NM_006278.3:c.*12del, NM_006278.2:c.*12del, NM_001348397.2:c.*12del, NM_001348397.1:c.*12del, NR_145671.2:n.1406del, NR_145671.1:n.1447del, NM_001254759.2:c.*12del, NM_001254759.1:c.*12del, NM_001348396.2:c.*12del, NM_001348396.1:c.*12del, NM_001348399.2:c.*12del, NM_001348399.1:c.*12del, NM_001254757.2:c.*12del, NM_001254757.1:c.*12del, NM_001348400.2:c.*12del, NM_001348400.1:c.*12del, NM_001254758.2:c.*12del, NM_001254758.1:c.*12del, NM_001348398.2:c.920del, NM_001348398.1:c.920del, XM_024448658.2:c.*12del, XM_024448658.1:c.*12del, XM_047427426.1:c.*12del, XM_047427422.1:c.*12del, XM_047427424.1:c.*12del, XM_047427425.1:c.*12del, XM_047427423.1:c.*12del, XM_047427421.1:c.*12del, XM_047427418.1:c.*12del, XM_047427420.1:c.*12del, NP_001335327.1:p.Ser307fs

                                16.

                                rs1439703235 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  11:126407269 (GRCh38)
                                  11:126277164 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:126407268:C:G
                                  Gene:
                                  ST3GAL4 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.126407269C>G, NC_000011.9:g.126277164C>G, NG_053025.1:g.56625C>G, NM_006278.3:c.188C>G, NM_006278.2:c.188C>G, NM_001348397.2:c.263C>G, NM_001348397.1:c.263C>G, NR_145671.2:n.417C>G, NR_145671.1:n.458C>G, NM_001254759.2:c.197C>G, NM_001254759.1:c.197C>G, NM_001348396.2:c.263C>G, NM_001348396.1:c.263C>G, NM_001348399.2:c.200C>G, NM_001348399.1:c.200C>G, NM_001254757.2:c.200C>G, NM_001254757.1:c.200C>G, NM_001348400.2:c.188C>G, NM_001348400.1:c.188C>G, NM_001254758.2:c.200C>G, NM_001254758.1:c.200C>G, NM_001348398.2:c.188C>G, NM_001348398.1:c.188C>G, XM_024448658.2:c.200C>G, XM_024448658.1:c.200C>G, XM_047427426.1:c.251C>G, XM_047427422.1:c.269C>G, XM_047427424.1:c.257C>G, XM_047427425.1:c.251C>G, XM_047427423.1:c.263C>G, XM_047427421.1:c.311C>G, XM_047427418.1:c.200C>G, XM_047427420.1:c.188C>G, NP_006269.1:p.Pro63Arg, NP_001335326.1:p.Pro88Arg, NP_001241688.1:p.Pro66Arg, NP_001335325.1:p.Pro88Arg, NP_001335328.1:p.Pro67Arg, NP_001241686.1:p.Pro67Arg, NP_001335329.1:p.Pro63Arg, NP_001241687.1:p.Pro67Arg, NP_001335327.1:p.Pro63Arg, XP_024304426.1:p.Pro67Arg, XP_047283382.1:p.Pro84Arg, XP_047283378.1:p.Pro90Arg, XP_047283380.1:p.Pro86Arg, XP_047283381.1:p.Pro84Arg, XP_047283379.1:p.Pro88Arg, XP_047283377.1:p.Pro104Arg, XP_047283374.1:p.Pro67Arg, XP_047283376.1:p.Pro63Arg

                                  17.

                                  rs1439685817 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    T>- [Show Flanks]
                                    Chromosome:
                                    11:126414079 (GRCh38)
                                    11:126283974 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:126414078:T:
                                    Gene:
                                    ST3GAL4 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.126414079del, NC_000011.9:g.126283974del, NG_053025.1:g.63435del, NM_006278.3:c.*32del, NM_006278.2:c.*32del, NM_001348397.2:c.*32del, NM_001348397.1:c.*32del, NR_145671.2:n.1426del, NR_145671.1:n.1467del, NM_001254759.2:c.*32del, NM_001254759.1:c.*32del, NM_001348396.2:c.*32del, NM_001348396.1:c.*32del, NM_001348399.2:c.*32del, NM_001348399.1:c.*32del, NM_001254757.2:c.*32del, NM_001254757.1:c.*32del, NM_001348400.2:c.*32del, NM_001348400.1:c.*32del, NM_001254758.2:c.*32del, NM_001254758.1:c.*32del, NM_001348398.2:c.940del, NM_001348398.1:c.940del, XM_024448658.2:c.*32del, XM_024448658.1:c.*32del, XM_047427426.1:c.*32del, XM_047427422.1:c.*32del, XM_047427424.1:c.*32del, XM_047427425.1:c.*32del, XM_047427423.1:c.*32del, XM_047427421.1:c.*32del, XM_047427418.1:c.*32del, XM_047427420.1:c.*32del, NP_001335327.1:p.Tyr314fs

                                    18.

                                    rs1434131621 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      11:126414169 (GRCh38)
                                      11:126284064 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:126414168:A:G
                                      Gene:
                                      ST3GAL4 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000011.10:g.126414169A>G, NC_000011.9:g.126284064A>G, NG_053025.1:g.63525A>G, NM_006278.3:c.*122A>G, NM_006278.2:c.*122A>G, NM_001348397.2:c.*122A>G, NM_001348397.1:c.*122A>G, NR_145671.2:n.1516A>G, NR_145671.1:n.1557A>G, NM_001254759.2:c.*122A>G, NM_001254759.1:c.*122A>G, NM_001348396.2:c.*122A>G, NM_001348396.1:c.*122A>G, NM_001348399.2:c.*122A>G, NM_001348399.1:c.*122A>G, NM_001254757.2:c.*122A>G, NM_001254757.1:c.*122A>G, NM_001348400.2:c.*122A>G, NM_001348400.1:c.*122A>G, NM_001254758.2:c.*122A>G, NM_001254758.1:c.*122A>G, NM_001348398.2:c.1030A>G, NM_001348398.1:c.1030A>G, XM_024448658.2:c.*122A>G, XM_024448658.1:c.*122A>G, XM_047427426.1:c.*122A>G, XM_047427422.1:c.*122A>G, XM_047427424.1:c.*122A>G, XM_047427425.1:c.*122A>G, XM_047427423.1:c.*122A>G, XM_047427421.1:c.*122A>G, XM_047427418.1:c.*122A>G, XM_047427420.1:c.*122A>G, NP_001335327.1:p.Ser344Gly

                                      19.

                                      rs1429394566 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        11:126407575 (GRCh38)
                                        11:126277470 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:126407574:G:C
                                        Gene:
                                        ST3GAL4 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.126407575G>C, NC_000011.9:g.126277470G>C, NG_053025.1:g.56931G>C, NM_006278.3:c.270G>C, NM_006278.2:c.270G>C, NM_001348397.2:c.345G>C, NM_001348397.1:c.345G>C, NR_145671.2:n.499G>C, NR_145671.1:n.540G>C, NM_001254759.2:c.279G>C, NM_001254759.1:c.279G>C, NM_001348396.2:c.345G>C, NM_001348396.1:c.345G>C, NM_001348399.2:c.282G>C, NM_001348399.1:c.282G>C, NM_001254757.2:c.282G>C, NM_001254757.1:c.282G>C, NM_001348400.2:c.270G>C, NM_001348400.1:c.270G>C, NM_001254758.2:c.282G>C, NM_001254758.1:c.282G>C, NM_001348398.2:c.270G>C, NM_001348398.1:c.270G>C, XM_024448658.2:c.282G>C, XM_024448658.1:c.282G>C, XM_047427426.1:c.333G>C, XM_047427422.1:c.351G>C, XM_047427424.1:c.339G>C, XM_047427425.1:c.333G>C, XM_047427423.1:c.345G>C, XM_047427421.1:c.393G>C, XM_047427418.1:c.282G>C, XM_047427420.1:c.270G>C, NP_006269.1:p.Glu90Asp, NP_001335326.1:p.Glu115Asp, NP_001241688.1:p.Glu93Asp, NP_001335325.1:p.Glu115Asp, NP_001335328.1:p.Glu94Asp, NP_001241686.1:p.Glu94Asp, NP_001335329.1:p.Glu90Asp, NP_001241687.1:p.Glu94Asp, NP_001335327.1:p.Glu90Asp, XP_024304426.1:p.Glu94Asp, XP_047283382.1:p.Glu111Asp, XP_047283378.1:p.Glu117Asp, XP_047283380.1:p.Glu113Asp, XP_047283381.1:p.Glu111Asp, XP_047283379.1:p.Glu115Asp, XP_047283377.1:p.Glu131Asp, XP_047283374.1:p.Glu94Asp, XP_047283376.1:p.Glu90Asp

                                        20.

                                        rs1428431141 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:126408133 (GRCh38)
                                          11:126278028 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:126408132:G:A
                                          Gene:
                                          ST3GAL4 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.126408133G>A, NC_000011.9:g.126278028G>A, NG_053025.1:g.57489G>A, NM_006278.3:c.364G>A, NM_006278.2:c.364G>A, NM_001348397.2:c.439G>A, NM_001348397.1:c.439G>A, NR_145671.2:n.593G>A, NR_145671.1:n.634G>A, NM_001254759.2:c.373G>A, NM_001254759.1:c.373G>A, NM_001348396.2:c.439G>A, NM_001348396.1:c.439G>A, NM_001348399.2:c.376G>A, NM_001348399.1:c.376G>A, NM_001254757.2:c.376G>A, NM_001254757.1:c.376G>A, NM_001348400.2:c.364G>A, NM_001348400.1:c.364G>A, NM_001254758.2:c.376G>A, NM_001254758.1:c.376G>A, NM_001348398.2:c.364G>A, NM_001348398.1:c.364G>A, XM_024448658.2:c.376G>A, XM_024448658.1:c.376G>A, XM_047427426.1:c.427G>A, XM_047427422.1:c.445G>A, XM_047427424.1:c.433G>A, XM_047427425.1:c.427G>A, XM_047427423.1:c.439G>A, XM_047427421.1:c.487G>A, XM_047427418.1:c.376G>A, XM_047427420.1:c.364G>A, NP_006269.1:p.Gly122Arg, NP_001335326.1:p.Gly147Arg, NP_001241688.1:p.Gly125Arg, NP_001335325.1:p.Gly147Arg, NP_001335328.1:p.Gly126Arg, NP_001241686.1:p.Gly126Arg, NP_001335329.1:p.Gly122Arg, NP_001241687.1:p.Gly126Arg, NP_001335327.1:p.Gly122Arg, XP_024304426.1:p.Gly126Arg, XP_047283382.1:p.Gly143Arg, XP_047283378.1:p.Gly149Arg, XP_047283380.1:p.Gly145Arg, XP_047283381.1:p.Gly143Arg, XP_047283379.1:p.Gly147Arg, XP_047283377.1:p.Gly163Arg, XP_047283374.1:p.Gly126Arg, XP_047283376.1:p.Gly122Arg

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