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Links from Protein

Items: 1 to 20 of 289

2.

rs1481302172 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:837977 (GRCh38)
    11:837977 (GRCh37)
    Canonical SPDI:
    NC_000011.10:837976:G:A
    Gene:
    CD151 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000008/2 (TOPMED)
    HGVS:
    3.
    5.
    7.

    rs1463539548 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:836792 (GRCh38)
      11:836792 (GRCh37)
      Canonical SPDI:
      NC_000011.10:836791:C:T
      Gene:
      CD151 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      8.

      rs1462210138 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AGG>- [Show Flanks]
        Chromosome:
        11:837353 (GRCh38)
        11:837353 (GRCh37)
        Canonical SPDI:
        NC_000011.10:837349:AGGAGG:AGG
        Gene:
        CD151 (Varview)
        Functional Consequence:
        coding_sequence_variant,splice_donor_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGGAGG=0./0 (ALFA)
        -=0.000004/1 (GnomAD_exomes)
        -=0.000004/1 (TOPMED)
        HGVS:
        10.
        11.

        rs1449730015 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          11:837267 (GRCh38)
          11:837267 (GRCh37)
          Canonical SPDI:
          NC_000011.10:837266:G:C
          Gene:
          CD151 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          14.
          15.
          16.

          rs1436831302 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            11:836333 (GRCh38)
            11:836333 (GRCh37)
            Canonical SPDI:
            NC_000011.10:836332:C:G
            Gene:
            CD151 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (TOPMED)
            HGVS:
            17.

            rs1432446493 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:837597 (GRCh38)
              11:837597 (GRCh37)
              Canonical SPDI:
              NC_000011.10:837596:C:T
              Gene:
              CD151 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              18.

              rs1432316905 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                11:836807 (GRCh38)
                11:836807 (GRCh37)
                Canonical SPDI:
                NC_000011.10:836806:C:A
                Gene:
                CD151 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000014/2 (GnomAD)
                HGVS:

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