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Links from Protein

Items: 1 to 20 of 417

1.

rs1487120498 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    19:48750778 (GRCh38)
    19:49254035 (GRCh37)
    Canonical SPDI:
    NC_000019.10:48750777:G:A
    Gene:
    FUT1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1486913817 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      19:48750572 (GRCh38)
      19:49253829 (GRCh37)
      Canonical SPDI:
      NC_000019.10:48750571:CCC:CC
      Gene:
      FUT1 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CC=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1486610811 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:48750698 (GRCh38)
        19:49253955 (GRCh37)
        Canonical SPDI:
        NC_000019.10:48750697:G:A
        Gene:
        FUT1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (GnomAD_exomes)
        A=0.000019/5 (TOPMED)
        HGVS:
        4.

        rs1486106461 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          19:48750959 (GRCh38)
          19:49254216 (GRCh37)
          Canonical SPDI:
          NC_000019.10:48750958:C:A
          Gene:
          FUT1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000224/1 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000223/1 (Estonian)
          HGVS:
          5.

          rs1485786212 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:48751023 (GRCh38)
            19:49254280 (GRCh37)
            Canonical SPDI:
            NC_000019.10:48751022:C:T
            Gene:
            FUT1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1483232187 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:48750836 (GRCh38)
              19:49254093 (GRCh37)
              Canonical SPDI:
              NC_000019.10:48750835:C:G
              Gene:
              FUT1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              7.

              rs1481292218 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:48750403 (GRCh38)
                19:49253660 (GRCh37)
                Canonical SPDI:
                NC_000019.10:48750402:G:A
                Gene:
                FUT1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1481279420 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  19:48750414 (GRCh38)
                  19:49253671 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:48750413:G:C
                  Gene:
                  FUT1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1478969940 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    19:48751020 (GRCh38)
                    19:49254277 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:48751019:G:C
                    Gene:
                    FUT1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1478012875 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      19:48751013 (GRCh38)
                      19:49254270 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:48751012:CC:C
                      Gene:
                      FUT1 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1476743810 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:48751100 (GRCh38)
                        19:49254357 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:48751099:G:A
                        Gene:
                        FUT1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1476413435 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          19:48751099 (GRCh38)
                          19:49254356 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:48751098:C:T
                          Gene:
                          FUT1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          C=0.5/1 (SGDP_PRJ)
                          HGVS:
                          13.

                          rs1472659802 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:48750681 (GRCh38)
                            19:49253938 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:48750680:G:A
                            Gene:
                            FUT1 (Varview)
                            Functional Consequence:
                            stop_gained,coding_sequence_variant
                            HGVS:
                            14.

                            rs1469792663 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              19:48751256 (GRCh38)
                              19:49254513 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:48751255:A:T
                              Gene:
                              FUT1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1469074926 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:48750989 (GRCh38)
                                19:49254246 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:48750988:G:A
                                Gene:
                                FUT1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1465563357 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  19:48750659 (GRCh38)
                                  19:49253916 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:48750658:C:G,NC_000019.10:48750658:C:T
                                  Gene:
                                  FUT1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000061/1 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000012/3 (GnomAD_exomes)
                                  G=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1463494177 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    19:48751205 (GRCh38)
                                    19:49254462 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:48751204:T:C
                                    Gene:
                                    FUT1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1461351924 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:48750636 (GRCh38)
                                      19:49253893 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:48750635:C:T
                                      Gene:
                                      FUT1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      HGVS:
                                      19.

                                      rs1458182907 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        19:48750329 (GRCh38)
                                        19:49253586 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:48750328:G:C
                                        Gene:
                                        FUT1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1454153701 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:48750900 (GRCh38)
                                          19:49254157 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:48750899:G:A
                                          Gene:
                                          FUT1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000111/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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