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Links from Protein

Items: 1 to 20 of 377

1.

rs1490276944 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:42680104 (GRCh38)
    17:40832122 (GRCh37)
    Canonical SPDI:
    NC_000017.11:42680103:T:C
    Gene:
    CCR10 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1483925753 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:42680193 (GRCh38)
      17:40832211 (GRCh37)
      Canonical SPDI:
      NC_000017.11:42680192:G:A
      Gene:
      CCR10 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000051/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1481832562 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:42680195 (GRCh38)
        17:40832213 (GRCh37)
        Canonical SPDI:
        NC_000017.11:42680194:C:T
        Gene:
        CCR10 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0./0 (GnomAD)
        HGVS:
        4.

        rs1481518680 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          17:42680496 (GRCh38)
          17:40832514 (GRCh37)
          Canonical SPDI:
          NC_000017.11:42680495:A:T
          Gene:
          CCR10 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1480341520 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            17:42680038 (GRCh38)
            17:40832056 (GRCh37)
            Canonical SPDI:
            NC_000017.11:42680037:T:A
            Gene:
            CCR10 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1479584708 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              17:42680434 (GRCh38)
              17:40832452 (GRCh37)
              Canonical SPDI:
              NC_000017.11:42680433:G:A,NC_000017.11:42680433:G:C
              Gene:
              CCR10 (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              A=0.000071/1 (TOMMO)
              HGVS:
              7.

              rs1479568709 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:42679887 (GRCh38)
                17:40831905 (GRCh37)
                Canonical SPDI:
                NC_000017.11:42679886:A:G
                Gene:
                CCR10 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000005/1 (GnomAD_exomes)
                HGVS:
                8.

                rs1475303327 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  17:42680592 (GRCh38)
                  17:40832610 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:42680591:T:A
                  Gene:
                  CCR10 (Varview), CNTNAP1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1474937998 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    17:42680254 (GRCh38)
                    17:40832272 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:42680253:A:C
                    Gene:
                    CCR10 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1474693679 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      17:42679583 (GRCh38)
                      17:40831601 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:42679582:C:G
                      Gene:
                      CCR10 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1474053695 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A,G [Show Flanks]
                        Chromosome:
                        17:42681806 (GRCh38)
                        17:40833824 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:42681805:T:A,NC_000017.11:42681805:T:G
                        Gene:
                        CCR10 (Varview), CNTNAP1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1472800207 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          17:42679609 (GRCh38)
                          17:40831627 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:42679608:GGGG:GGG
                          Gene:
                          CCR10 (Varview)
                          Functional Consequence:
                          frameshift_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GGG=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1469738877 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GTGG>- [Show Flanks]
                            Chromosome:
                            17:42680448 (GRCh38)
                            17:40832466 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:42680442:GGTGGGTGG:GGTGG
                            Gene:
                            CCR10 (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1468437397 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:42679658 (GRCh38)
                              17:40831676 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:42679657:C:T
                              Gene:
                              CCR10 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              HGVS:
                              15.

                              rs1468258547 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                17:42680368 (GRCh38)
                                17:40832386 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:42680367:C:A
                                Gene:
                                CCR10 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                HGVS:
                                16.

                                rs1460837059 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  17:42679915 (GRCh38)
                                  17:40831933 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:42679914:G:T
                                  Gene:
                                  CCR10 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  HGVS:
                                  17.

                                  rs1459838889 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    17:42679566 (GRCh38)
                                    17:40831584 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:42679565:G:A,NC_000017.11:42679565:G:C
                                    Gene:
                                    CCR10 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000019/5 (TOPMED)
                                    C=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1459623477 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:42680240 (GRCh38)
                                      17:40832258 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:42680239:G:T
                                      Gene:
                                      CCR10 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1459378307 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:42680074 (GRCh38)
                                        17:40832092 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:42680073:G:A
                                        Gene:
                                        CCR10 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000111/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1459033010 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:42679837 (GRCh38)
                                          17:40831855 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:42679836:G:A
                                          Gene:
                                          CCR10 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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