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Links from Protein

Items: 1 to 20 of 210

1.

rs1490542199 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    13:95560263 (GRCh38)
    13:96212517 (GRCh37)
    Canonical SPDI:
    NC_000013.11:95560262:T:G
    Gene:
    CLDN10 (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:
    2.

    rs1489951611 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      13:95577976 (GRCh38)
      13:96230230 (GRCh37)
      Canonical SPDI:
      NC_000013.11:95577975:A:C
      Gene:
      CLDN10 (Varview), DZIP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_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.

      rs1489849412 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        13:95577930 (GRCh38)
        13:96230184 (GRCh37)
        Canonical SPDI:
        NC_000013.11:95577929:G:A
        Gene:
        CLDN10 (Varview), DZIP1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000094/1 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        A=0.00003/8 (TOPMED)
        HGVS:
        4.

        rs1489227581 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          13:95577267 (GRCh38)
          13:96229521 (GRCh37)
          Canonical SPDI:
          NC_000013.11:95577266:A:G
          Gene:
          CLDN10 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_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.

          rs1487772163 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            13:95433933 (GRCh38)
            13:96086187 (GRCh37)
            Canonical SPDI:
            NC_000013.11:95433932:G:A
            Gene:
            CLDN10 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1487018586 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              13:95433958 (GRCh38)
              13:96086212 (GRCh37)
              Canonical SPDI:
              NC_000013.11:95433957:G:C
              Gene:
              CLDN10 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1478418791 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                13:95433918 (GRCh38)
                13:96086172 (GRCh37)
                Canonical SPDI:
                NC_000013.11:95433917:A:G
                Gene:
                CLDN10 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1475288348 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  13:95433927 (GRCh38)
                  13:96086181 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:95433926:A:G
                  Gene:
                  CLDN10 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1473514461 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:95577935 (GRCh38)
                    13:96230189 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:95577934:C:T
                    Gene:
                    CLDN10 (Varview), DZIP1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1463871001 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      13:95560410 (GRCh38)
                      13:96212664 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:95560409:A:G
                      Gene:
                      CLDN10 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1461876248 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        13:95434042 (GRCh38)
                        13:96086296 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:95434041:T:C
                        Gene:
                        CLDN10 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        C=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1460544920 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          13:95577272 (GRCh38)
                          13:96229526 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:95577271:C:T
                          Gene:
                          CLDN10 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.0001/1 (ALFA)
                          HGVS:
                          13.

                          rs1460171508 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            13:95560386 (GRCh38)
                            13:96212640 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:95560385:G:T
                            Gene:
                            CLDN10 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            15.

                            rs1458302687 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              13:95577963 (GRCh38)
                              13:96230217 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:95577962:T:C
                              Gene:
                              CLDN10 (Varview), DZIP1 (Varview)
                              Functional Consequence:
                              synonymous_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1455117013 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                13:95433903 (GRCh38)
                                13:96086157 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:95433902:A:G
                                Gene:
                                CLDN10 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                17.

                                rs1439350594 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  13:95433935 (GRCh38)
                                  13:96086189 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:95433934:C:A,NC_000013.11:95433934:C:T
                                  Gene:
                                  CLDN10 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  18.

                                  rs1434863547 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    13:95577288 (GRCh38)
                                    13:96229542 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:95577287:T:C
                                    Gene:
                                    CLDN10 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1434172775 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      13:95434032 (GRCh38)
                                      13:96086286 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:95434031:A:G
                                      Gene:
                                      CLDN10 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000012/3 (GnomAD_exomes)
                                      G=0.000015/4 (TOPMED)
                                      G=0.00005/7 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1429577826 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        13:95577993 (GRCh38)
                                        13:96230247 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:95577992:T:G
                                        Gene:
                                        CLDN10 (Varview), DZIP1 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:

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