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Links from Protein

Items: 1 to 20 of 490

1.

rs1486990063 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    A>- [Show Flanks]
    Chromosome:
    17:41515937 (GRCh38)
    17:39672189 (GRCh37)
    Canonical SPDI:
    NC_000017.11:41515936:A:
    Gene:
    KRT15 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000051/1 (ALFA)
    -=0.000008/2 (TOPMED)
    -=0.000012/3 (GnomAD_exomes)
    -=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1483317138 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:41518589 (GRCh38)
      17:39674841 (GRCh37)
      Canonical SPDI:
      NC_000017.11:41518588:C:T
      Gene:
      KRT15 (Varview), MIR6510 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1483219262 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        17:41518824 (GRCh38)
        17:39675076 (GRCh37)
        Canonical SPDI:
        NC_000017.11:41518823:T:A
        Gene:
        KRT15 (Varview), MIR6510 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000006/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1481678602 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          17:41516145 (GRCh38)
          17:39672397 (GRCh37)
          Canonical SPDI:
          NC_000017.11:41516144:C:A
          Gene:
          KRT15 (Varview)
          Functional Consequence:
          stop_gained,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:
          7.

          rs1478719795 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            17:41515574 (GRCh38)
            17:39671826 (GRCh37)
            Canonical SPDI:
            NC_000017.11:41515573:A:C
            Gene:
            KRT15 (Varview)
            Functional Consequence:
            coding_sequence_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:
            8.

            rs1474162804 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:41518462 (GRCh38)
              17:39674714 (GRCh37)
              Canonical SPDI:
              NC_000017.11:41518461:C:T
              Gene:
              KRT15 (Varview), MIR6510 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              9.

              rs1471720981 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:41515518 (GRCh38)
                17:39671770 (GRCh37)
                Canonical SPDI:
                NC_000017.11:41515517:G:A
                Gene:
                KRT15 (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                10.

                rs1470786935 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:41516819 (GRCh38)
                  17:39673071 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:41516818:T:C
                  Gene:
                  KRT15 (Varview), MIR6510 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  11.

                  rs1468870713 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    17:41518801 (GRCh38)
                    17:39675053 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:41518800:A:G
                    Gene:
                    KRT15 (Varview), MIR6510 (Varview)
                    Functional Consequence:
                    synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000142/2 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    12.

                    rs1467279693 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:41518724 (GRCh38)
                      17:39674976 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:41518723:A:G
                      Gene:
                      KRT15 (Varview), MIR6510 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,missense_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:
                      13.

                      rs1466393767 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:41518772 (GRCh38)
                        17:39675024 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:41518771:C:T
                        Gene:
                        KRT15 (Varview), MIR6510 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        14.

                        rs1461889419 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:41516883 (GRCh38)
                          17:39673135 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:41516882:C:T
                          Gene:
                          KRT15 (Varview), MIR6510 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.00003/1 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000011/3 (TOPMED)
                          HGVS:
                          15.

                          rs1454793278 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:41516131 (GRCh38)
                            17:39672383 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:41516130:C:T
                            Gene:
                            KRT15 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            16.

                            rs1454522745 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              17:41518638 (GRCh38)
                              17:39674890 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:41518637:T:A
                              Gene:
                              KRT15 (Varview), MIR6510 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000008/1 (GnomAD)
                              HGVS:
                              17.

                              rs1452716504 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                17:41518781 (GRCh38)
                                17:39675033 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:41518780:C:G
                                Gene:
                                KRT15 (Varview), MIR6510 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant,missense_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:
                                18.

                                rs1451631884 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:41515491 (GRCh38)
                                  17:39671743 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:41515490:G:A
                                  Gene:
                                  KRT15 (Varview)
                                  Functional Consequence:
                                  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:
                                  19.

                                  rs1450911988 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:41515516 (GRCh38)
                                    17:39671768 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:41515515:C:T
                                    Gene:
                                    KRT15 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    20.

                                    rs1449841577 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      17:41516130 (GRCh38)
                                      17:39672382 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:41516129:C:A
                                      Gene:
                                      KRT15 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:

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