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Links from Protein

Items: 1 to 20 of 981

1.

rs1489902680 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:133101550 (GRCh38)
    9:135976937 (GRCh37)
    Canonical SPDI:
    NC_000009.12:133101549:C:T
    Gene:
    RALGDS (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    HGVS:
    2.

    rs1488816156 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      9:133112063 (GRCh38)
      9:135987450 (GRCh37)
      Canonical SPDI:
      NC_000009.12:133112062:G:C
      Gene:
      RALGDS (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1487710168 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:133106662 (GRCh38)
        9:135982049 (GRCh37)
        Canonical SPDI:
        NC_000009.12:133106661:C:T
        Gene:
        RALGDS (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        T=0.000023/6 (TOPMED)
        T=0.000106/2 (TOMMO)
        HGVS:
        4.

        rs1486583138 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:133098593 (GRCh38)
          9:135973980 (GRCh37)
          Canonical SPDI:
          NC_000009.12:133098592:G:A
          Gene:
          RALGDS (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.
          6.

          rs1482802229 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            9:133108696 (GRCh38)
            9:135984083 (GRCh37)
            Canonical SPDI:
            NC_000009.12:133108695:T:C
            Gene:
            RALGDS (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000142/2 (ALFA)
            C=0.000023/6 (TOPMED)
            C=0.000029/4 (GnomAD)
            HGVS:
            7.
            8.
            9.
            10.
            11.

            rs1474739348 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:133108697 (GRCh38)
              9:135984084 (GRCh37)
              Canonical SPDI:
              NC_000009.12:133108696:C:T
              Gene:
              RALGDS (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:
              12.

              rs1473621060 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                9:133108313 (GRCh38)
                9:135983700 (GRCh37)
                Canonical SPDI:
                NC_000009.12:133108312:G:A,NC_000009.12:133108312:G:C,NC_000009.12:133108312:G:T
                Gene:
                RALGDS (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000007/1 (GnomAD_exomes)
                A=0.000049/13 (TOPMED)
                HGVS:
                NC_000009.12:g.133108313G>A, NC_000009.12:g.133108313G>C, NC_000009.12:g.133108313G>T, NC_000009.11:g.135983700G>A, NC_000009.11:g.135983700G>C, NC_000009.11:g.135983700G>T, NM_006266.4:c.872C>T, NM_006266.4:c.872C>G, NM_006266.4:c.872C>A, NM_006266.3:c.872C>T, NM_006266.3:c.872C>G, NM_006266.3:c.872C>A, NM_001042368.3:c.707C>T, NM_001042368.3:c.707C>G, NM_001042368.3:c.707C>A, NM_001042368.2:c.707C>T, NM_001042368.2:c.707C>G, NM_001042368.2:c.707C>A, NM_001271775.2:c.869C>T, NM_001271775.2:c.869C>G, NM_001271775.2:c.869C>A, NM_001271775.1:c.869C>T, NM_001271775.1:c.869C>G, NM_001271775.1:c.869C>A, NM_001271776.2:c.836C>T, NM_001271776.2:c.836C>G, NM_001271776.2:c.836C>A, NM_001271776.1:c.836C>T, NM_001271776.1:c.836C>G, NM_001271776.1:c.836C>A, NM_001271774.2:c.785C>T, NM_001271774.2:c.785C>G, NM_001271774.2:c.785C>A, NM_001271774.1:c.785C>T, NM_001271774.1:c.785C>G, NM_001271774.1:c.785C>A, NP_006257.1:p.Pro291Leu, NP_006257.1:p.Pro291Arg, NP_006257.1:p.Pro291Gln, NP_001035827.1:p.Pro236Leu, NP_001035827.1:p.Pro236Arg, NP_001035827.1:p.Pro236Gln, NP_001258704.1:p.Pro290Leu, NP_001258704.1:p.Pro290Arg, NP_001258704.1:p.Pro290Gln, NP_001258705.1:p.Pro279Leu, NP_001258705.1:p.Pro279Arg, NP_001258705.1:p.Pro279Gln, NP_001258703.1:p.Pro262Leu, NP_001258703.1:p.Pro262Arg, NP_001258703.1:p.Pro262Gln
                13.

                rs1473614334 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:133101714 (GRCh38)
                  9:135977101 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:133101713:A:G
                  Gene:
                  RALGDS (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  15.

                  rs1471532175 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:133103785 (GRCh38)
                    9:135979172 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:133103784:G:A
                    Gene:
                    RALGDS (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    16.
                    17.

                    rs1470073438 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      9:133106737 (GRCh38)
                      9:135982124 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:133106736:G:C
                      Gene:
                      RALGDS (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000031/1 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      18.

                      rs1468636452 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->AGTTCCAGAGCT [Show Flanks]
                        Chromosome:
                        9:133108178 (GRCh38)
                        9:135983566 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:133108178:CTAGTTCCAGAGCT:CTAGTTCCAGAGCTAGTTCCAGAGCT
                        Gene:
                        RALGDS (Varview)
                        Functional Consequence:
                        coding_sequence_variant,inframe_insertion
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CTAGTTCCAGAGCTAGTTCCAGAGCT=0./0 (ALFA)
                        CTAGTTCCAGAG=0.000004/1 (GnomAD_exomes)
                        CTAGTTCCAGAG=0.000004/1 (TOPMED)
                        HGVS:
                        19.
                        20.

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