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Links from Protein

Items: 1 to 20 of 1000

1.

rs1490921022 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:29317871 (GRCh38)
    1:29644383 (GRCh37)
    Canonical SPDI:
    NC_000001.11:29317870:A:G
    Gene:
    PTPRU (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    G=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490905370 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:29323374 (GRCh38)
      1:29649886 (GRCh37)
      Canonical SPDI:
      NC_000001.11:29323373:T:C
      Gene:
      PTPRU (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:
      3.
      4.

      rs1487021838 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        1:29312677 (GRCh38)
        1:29639189 (GRCh37)
        Canonical SPDI:
        NC_000001.11:29312676:T:G
        Gene:
        PTPRU (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        5.

        rs1486983260 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:29292011 (GRCh38)
          1:29618523 (GRCh37)
          Canonical SPDI:
          NC_000001.11:29292010:G:A
          Gene:
          PTPRU (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000012/3 (GnomAD_exomes)
          HGVS:
          6.

          rs1485779400 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:29258682 (GRCh38)
            1:29585194 (GRCh37)
            Canonical SPDI:
            NC_000001.11:29258681:T:C
            Gene:
            PTPRU (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            7.

            rs1485227658 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:29279465 (GRCh38)
              1:29605977 (GRCh37)
              Canonical SPDI:
              NC_000001.11:29279464:C:T
              Gene:
              PTPRU (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000047/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              8.

              rs1485089113 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:29255291 (GRCh38)
                1:29581803 (GRCh37)
                Canonical SPDI:
                NC_000001.11:29255290:G:A
                Gene:
                PTPRU (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                HGVS:
                9.

                rs1484999693 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:29317828 (GRCh38)
                  1:29644340 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:29317827:C:G
                  Gene:
                  PTPRU (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1484354323 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:29316046 (GRCh38)
                    1:29642558 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:29316045:G:C
                    Gene:
                    PTPRU (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    11.
                    12.

                    rs1483129819 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      1:29259301 (GRCh38)
                      1:29585813 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:29259300:A:T
                      Gene:
                      PTPRU (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      13.

                      rs1479166204 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        1:29312672 (GRCh38)
                        1:29639184 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:29312671:C:A
                        Gene:
                        PTPRU (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        14.

                        rs1478494323 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:29312611 (GRCh38)
                          1:29639123 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:29312610:T:C
                          Gene:
                          PTPRU (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          17.

                          rs1477115276 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            1:29312698 (GRCh38)
                            1:29639210 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:29312697:C:G
                            Gene:
                            PTPRU (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            18.

                            rs1476973794 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GAG>- [Show Flanks]
                              Chromosome:
                              1:29291912 (GRCh38)
                              1:29618424 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:29291909:AGGAG:AG
                              Gene:
                              PTPRU (Varview)
                              Functional Consequence:
                              inframe_deletion,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AG=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000012/3 (GnomAD_exomes)
                              -=0.000023/6 (TOPMED)
                              HGVS:
                              19.

                              rs1476871993 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:29275532 (GRCh38)
                                1:29602044 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:29275531:A:G
                                Gene:
                                PTPRU (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                20.

                                rs1475479461 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:29303959 (GRCh38)
                                  1:29630471 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:29303958:C:T
                                  Gene:
                                  PTPRU (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:

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