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Links from Protein

Items: 1 to 20 of 771

1.

rs1490610836 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    22:36506357 (GRCh38)
    22:36902404 (GRCh37)
    Canonical SPDI:
    NC_000022.11:36506356:G:C
    Gene:
    FOXRED2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000014/2 (GnomAD)
    C=0.000026/7 (TOPMED)
    HGVS:
    2.

    rs1487889646 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      22:36506366 (GRCh38)
      22:36902413 (GRCh37)
      Canonical SPDI:
      NC_000022.11:36506365:G:A
      Gene:
      FOXRED2 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      4.

      rs1483069612 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        22:36496139 (GRCh38)
        22:36892186 (GRCh37)
        Canonical SPDI:
        NC_000022.11:36496138:T:C
        Gene:
        FOXRED2 (Varview), LOC105373020 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        6.
        7.
        8.

        rs1479166501 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:36506411 (GRCh38)
          22:36902458 (GRCh37)
          Canonical SPDI:
          NC_000022.11:36506410:G:A
          Gene:
          FOXRED2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          HGVS:
          9.

          rs1477208607 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            22:36506325 (GRCh38)
            22:36902372 (GRCh37)
            Canonical SPDI:
            NC_000022.11:36506324:T:C
            Gene:
            FOXRED2 (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:
            10.
            11.

            rs1474906306 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CCC>- [Show Flanks]
              Chromosome:
              22:36504316 (GRCh38)
              22:36900363 (GRCh37)
              Canonical SPDI:
              NC_000022.11:36504315:CCC:
              Gene:
              FOXRED2 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,inframe_deletion
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              12.

              rs1474647601 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                22:36506060 (GRCh38)
                22:36902107 (GRCh37)
                Canonical SPDI:
                NC_000022.11:36506059:G:A,NC_000022.11:36506059:G:C,NC_000022.11:36506059:G:T
                Gene:
                FOXRED2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000022.11:g.36506060G>A, NC_000022.11:g.36506060G>C, NC_000022.11:g.36506060G>T, NC_000022.10:g.36902107G>A, NC_000022.10:g.36902107G>C, NC_000022.10:g.36902107G>T, NM_024955.6:c.363C>T, NM_024955.6:c.363C>G, NM_024955.6:c.363C>A, NM_024955.5:c.363C>T, NM_024955.5:c.363C>G, NM_024955.5:c.363C>A, NM_001102371.2:c.363C>T, NM_001102371.2:c.363C>G, NM_001102371.2:c.363C>A, NM_001102371.1:c.363C>T, NM_001102371.1:c.363C>G, NM_001102371.1:c.363C>A, NM_001363041.2:c.363C>T, NM_001363041.2:c.363C>G, NM_001363041.2:c.363C>A, NM_001363041.1:c.363C>T, NM_001363041.1:c.363C>G, NM_001363041.1:c.363C>A, NM_001363042.2:c.363C>T, NM_001363042.2:c.363C>G, NM_001363042.2:c.363C>A, NM_001363042.1:c.363C>T, NM_001363042.1:c.363C>G, NM_001363042.1:c.363C>A, XM_047441496.1:c.363C>T, XM_047441496.1:c.363C>G, XM_047441496.1:c.363C>A, XM_047441497.1:c.363C>T, XM_047441497.1:c.363C>G, XM_047441497.1:c.363C>A, NP_079231.4:p.Asp121Glu, NP_079231.4:p.Asp121Glu, NP_001095841.1:p.Asp121Glu, NP_001095841.1:p.Asp121Glu, NP_001349970.1:p.Asp121Glu, NP_001349970.1:p.Asp121Glu, NP_001349971.1:p.Asp121Glu, NP_001349971.1:p.Asp121Glu, XP_047297452.1:p.Asp121Glu, XP_047297452.1:p.Asp121Glu, XP_047297453.1:p.Asp121Glu, XP_047297453.1:p.Asp121Glu
                13.

                rs1473955034 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  22:36506374 (GRCh38)
                  22:36902421 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:36506373:G:A
                  Gene:
                  FOXRED2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  HGVS:
                  14.

                  rs1473456674 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    22:36496184 (GRCh38)
                    22:36892231 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:36496183:C:T
                    Gene:
                    FOXRED2 (Varview), LOC105373020 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    15.

                    rs1471031593 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      22:36506096 (GRCh38)
                      22:36902143 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:36506095:C:T
                      Gene:
                      FOXRED2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      16.

                      rs1470282875 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:36490138 (GRCh38)
                        22:36886185 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:36490137:C:T
                        Gene:
                        FOXRED2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        17.

                        rs1469768853 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          22:36506216 (GRCh38)
                          22:36902263 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:36506215:G:A
                          Gene:
                          FOXRED2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000028/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000008/2 (TOPMED)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          20.

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