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Links from Protein

Items: 1 to 20 of 283

1.

rs1486899949 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:70833766 (GRCh38)
    2:71060897 (GRCh37)
    Canonical SPDI:
    NC_000002.12:70833765:T:C
    Gene:
    CD207 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.000028/1 (ALFA)
    C=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1484480925 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:70830880 (GRCh38)
      2:71058011 (GRCh37)
      Canonical SPDI:
      NC_000002.12:70830879:T:C
      Gene:
      CD207 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1484329235 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:70835500 (GRCh38)
        2:71062631 (GRCh37)
        Canonical SPDI:
        NC_000002.12:70835499:C:T
        Gene:
        CD207 (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:
        4.

        rs1473627381 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          2:70830878 (GRCh38)
          2:71058009 (GRCh37)
          Canonical SPDI:
          NC_000002.12:70830877:C:
          Gene:
          CD207 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,frameshift_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000019/5 (TOPMED)
          -=0.000029/4 (GnomAD)
          HGVS:
          5.

          rs1472064613 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:70833931 (GRCh38)
            2:71061062 (GRCh37)
            Canonical SPDI:
            NC_000002.12:70833930:C:T
            Gene:
            CD207 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1469093146 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              2:70832955 (GRCh38)
              2:71060086 (GRCh37)
              Canonical SPDI:
              NC_000002.12:70832954:T:G
              Gene:
              CD207 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000056/2 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1451373781 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                2:70835604 (GRCh38)
                2:71062735 (GRCh37)
                Canonical SPDI:
                NC_000002.12:70835603:G:A,NC_000002.12:70835603:G:C,NC_000002.12:70835603:G:T
                Gene:
                CD207 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.70835604G>A, NC_000002.12:g.70835604G>C, NC_000002.12:g.70835604G>T, NW_004504299.1:g.401885G>A, NW_004504299.1:g.401885G>C, NW_004504299.1:g.401885G>T, NG_033914.1:g.5220C>T, NG_033914.1:g.5220C>G, NG_033914.1:g.5220C>A, NM_015717.5:c.77C>T, NM_015717.5:c.77C>G, NM_015717.5:c.77C>A, NM_015717.4:c.77C>T, NM_015717.4:c.77C>G, NM_015717.4:c.77C>A, NM_015717.3:c.77C>T, NM_015717.3:c.77C>G, NM_015717.3:c.77C>A, NC_000002.11:g.71062735G>A, NC_000002.11:g.71062735G>C, NC_000002.11:g.71062735G>T, XM_011532876.3:c.77C>T, XM_011532876.3:c.77C>G, XM_011532876.3:c.77C>A, XM_011532876.2:c.77C>T, XM_011532876.2:c.77C>G, XM_011532876.2:c.77C>A, XM_011532876.1:c.77C>T, XM_011532876.1:c.77C>G, XM_011532876.1:c.77C>A, XM_011532875.3:c.77C>T, XM_011532875.3:c.77C>G, XM_011532875.3:c.77C>A, XM_011532875.2:c.77C>T, XM_011532875.2:c.77C>G, XM_011532875.2:c.77C>A, XM_011532875.1:c.77C>T, XM_011532875.1:c.77C>G, XM_011532875.1:c.77C>A, NP_056532.4:p.Pro26Leu, NP_056532.4:p.Pro26Arg, NP_056532.4:p.Pro26His, XP_011531178.1:p.Pro26Leu, XP_011531178.1:p.Pro26Arg, XP_011531178.1:p.Pro26His, XP_011531177.1:p.Pro26Leu, XP_011531177.1:p.Pro26Arg, XP_011531177.1:p.Pro26His
                9.

                rs1442651567 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:70832903 (GRCh38)
                  2:71060034 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:70832902:C:G
                  Gene:
                  CD207 (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:
                  10.

                  rs1441117520 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:70833858 (GRCh38)
                    2:71060989 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:70833857:T:C
                    Gene:
                    CD207 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    11.

                    rs1423107223 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:70835711 (GRCh38)
                      2:71062841 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:70835710:C:T
                      Gene:
                      CD207 (Varview)
                      Functional Consequence:
                      stop_gained,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      12.

                      rs1420246271 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:70830845 (GRCh38)
                        2:71057976 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:70830844:G:C
                        Gene:
                        CD207 (Varview)
                        Functional Consequence:
                        intron_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1420062497 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:70835495 (GRCh38)
                          2:71062626 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:70835494:G:A
                          Gene:
                          CD207 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          14.

                          rs1413136498 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:70830835 (GRCh38)
                            2:71057966 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:70830834:A:T
                            Gene:
                            CD207 (Varview)
                            Functional Consequence:
                            missense_variant,3_prime_UTR_variant,intron_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.

                            rs1410571403 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:70833677 (GRCh38)
                              2:71060808 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:70833676:C:T
                              Gene:
                              CD207 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (GnomAD_exomes)
                              T=0.000011/3 (TOPMED)
                              T=0.000014/2 (GnomAD)
                              HGVS:
                              16.

                              rs1407926923 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                2:70833803 (GRCh38)
                                2:71060934 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:70833802:C:
                                Gene:
                                CD207 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.000043/1 (ALFA)
                                -=0.000004/1 (GnomAD_exomes)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1407077670 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:70830858 (GRCh38)
                                  2:71057989 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:70830857:C:T
                                  Gene:
                                  CD207 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,coding_sequence_variant,intron_variant,stop_gained
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1406646296 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:70833917 (GRCh38)
                                    2:71061048 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:70833916:A:G
                                    Gene:
                                    CD207 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000087/2 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000009/2 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1403253376 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:70835551 (GRCh38)
                                      2:71062682 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:70835550:C:T
                                      Gene:
                                      CD207 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000028/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (GnomAD_exomes)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:

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