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Items: 1 to 20 of 1016

1.

rs1490873455 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    2:54987539 (GRCh38)
    2:55214675 (GRCh37)
    Canonical SPDI:
    NC_000002.12:54987538:T:A,NC_000002.12:54987538:T:C
    Gene:
    RTN4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000028/1 (ALFA)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000002.12:g.54987539T>A, NC_000002.12:g.54987539T>C, NC_000002.11:g.55214675T>A, NC_000002.11:g.55214675T>C, NG_029037.2:g.155293A>T, NG_029037.2:g.155293A>G, NM_020532.5:c.3173A>T, NM_020532.5:c.3173A>G, NM_020532.4:c.3173A>T, NM_020532.4:c.3173A>G, NM_153828.3:c.716A>T, NM_153828.3:c.716A>G, NM_153828.2:c.716A>T, NM_153828.2:c.716A>G, NM_007008.3:c.194A>T, NM_007008.3:c.194A>G, NM_007008.2:c.194A>T, NM_007008.2:c.194A>G, NM_001321859.2:c.2555A>T, NM_001321859.2:c.2555A>G, NM_001321859.1:c.2555A>T, NM_001321859.1:c.2555A>G, NM_001321904.2:c.2555A>T, NM_001321904.2:c.2555A>G, NM_001321904.1:c.2555A>T, NM_001321904.1:c.2555A>G, NM_001321863.2:c.2555A>T, NM_001321863.2:c.2555A>G, NM_001321863.1:c.2555A>T, NM_001321863.1:c.2555A>G, NM_001321861.2:c.2555A>T, NM_001321861.2:c.2555A>G, NM_001321861.1:c.2555A>T, NM_001321861.1:c.2555A>G, NM_001321862.2:c.2555A>T, NM_001321862.2:c.2555A>G, NM_001321862.1:c.2555A>T, NM_001321862.1:c.2555A>G, NM_207521.2:c.2555A>T, NM_207521.2:c.2555A>G, NM_207521.1:c.2555A>T, NM_207521.1:c.2555A>G, NM_207520.2:c.773A>T, NM_207520.2:c.773A>G, NM_207520.1:c.773A>T, NM_207520.1:c.773A>G, NR_135829.2:n.294A>T, NR_135829.2:n.294A>G, NR_135829.1:n.294A>T, NR_135829.1:n.294A>G, NR_135830.2:n.238A>T, NR_135830.2:n.238A>G, NR_135830.1:n.272A>T, NR_135830.1:n.272A>G, NM_001321860.1:c.2555A>T, NM_001321860.1:c.2555A>G, NP_065393.1:p.Lys1058Met, NP_065393.1:p.Lys1058Arg, NP_722550.1:p.Lys239Met, NP_722550.1:p.Lys239Arg, NP_008939.1:p.Lys65Met, NP_008939.1:p.Lys65Arg, NP_001308788.1:p.Lys852Met, NP_001308788.1:p.Lys852Arg, NP_001308833.1:p.Lys852Met, NP_001308833.1:p.Lys852Arg, NP_001308792.1:p.Lys852Met, NP_001308792.1:p.Lys852Arg, NP_001308790.1:p.Lys852Met, NP_001308790.1:p.Lys852Arg, NP_001308791.1:p.Lys852Met, NP_001308791.1:p.Lys852Arg, NP_997404.1:p.Lys852Met, NP_997404.1:p.Lys852Arg, NP_997403.1:p.Lys258Met, NP_997403.1:p.Lys258Arg, NP_001308789.1:p.Lys852Met, NP_001308789.1:p.Lys852Arg
    2.

    rs1490870452 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      2:55027278 (GRCh38)
      2:55254414 (GRCh37)
      Canonical SPDI:
      NC_000002.12:55027277:T:C,NC_000002.12:55027277:T:G
      Gene:
      RTN4 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.55027278T>C, NC_000002.12:g.55027278T>G, NC_000002.11:g.55254414T>C, NC_000002.11:g.55254414T>G, NG_029037.2:g.115554A>G, NG_029037.2:g.115554A>C, NM_020532.5:c.821A>G, NM_020532.5:c.821A>C, NM_020532.4:c.821A>G, NM_020532.4:c.821A>C, NM_001321859.2:c.203A>G, NM_001321859.2:c.203A>C, NM_001321859.1:c.203A>G, NM_001321859.1:c.203A>C, NM_001321904.2:c.203A>G, NM_001321904.2:c.203A>C, NM_001321904.1:c.203A>G, NM_001321904.1:c.203A>C, NM_001321863.2:c.203A>G, NM_001321863.2:c.203A>C, NM_001321863.1:c.203A>G, NM_001321863.1:c.203A>C, NM_001321861.2:c.203A>G, NM_001321861.2:c.203A>C, NM_001321861.1:c.203A>G, NM_001321861.1:c.203A>C, NM_001321862.2:c.203A>G, NM_001321862.2:c.203A>C, NM_001321862.1:c.203A>G, NM_001321862.1:c.203A>C, NM_207521.2:c.203A>G, NM_207521.2:c.203A>C, NM_207521.1:c.203A>G, NM_207521.1:c.203A>C, NM_001321860.1:c.203A>G, NM_001321860.1:c.203A>C, NP_065393.1:p.Lys274Arg, NP_065393.1:p.Lys274Thr, NP_001308788.1:p.Lys68Arg, NP_001308788.1:p.Lys68Thr, NP_001308833.1:p.Lys68Arg, NP_001308833.1:p.Lys68Thr, NP_001308792.1:p.Lys68Arg, NP_001308792.1:p.Lys68Thr, NP_001308790.1:p.Lys68Arg, NP_001308790.1:p.Lys68Thr, NP_001308791.1:p.Lys68Arg, NP_001308791.1:p.Lys68Thr, NP_997404.1:p.Lys68Arg, NP_997404.1:p.Lys68Thr, NP_001308789.1:p.Lys68Arg, NP_001308789.1:p.Lys68Thr
      6.

      rs1487959519 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        2:55025886 (GRCh38)
        2:55253022 (GRCh37)
        Canonical SPDI:
        NC_000002.12:55025885:G:A,NC_000002.12:55025885:G:C
        Gene:
        RTN4 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000014/2 (GnomAD)
        HGVS:
        NC_000002.12:g.55025886G>A, NC_000002.12:g.55025886G>C, NC_000002.11:g.55253022G>A, NC_000002.11:g.55253022G>C, NG_029037.2:g.116946C>T, NG_029037.2:g.116946C>G, NM_020532.5:c.2213C>T, NM_020532.5:c.2213C>G, NM_020532.4:c.2213C>T, NM_020532.4:c.2213C>G, NM_001321859.2:c.1595C>T, NM_001321859.2:c.1595C>G, NM_001321859.1:c.1595C>T, NM_001321859.1:c.1595C>G, NM_001321904.2:c.1595C>T, NM_001321904.2:c.1595C>G, NM_001321904.1:c.1595C>T, NM_001321904.1:c.1595C>G, NM_001321863.2:c.1595C>T, NM_001321863.2:c.1595C>G, NM_001321863.1:c.1595C>T, NM_001321863.1:c.1595C>G, NM_001321861.2:c.1595C>T, NM_001321861.2:c.1595C>G, NM_001321861.1:c.1595C>T, NM_001321861.1:c.1595C>G, NM_001321862.2:c.1595C>T, NM_001321862.2:c.1595C>G, NM_001321862.1:c.1595C>T, NM_001321862.1:c.1595C>G, NM_207521.2:c.1595C>T, NM_207521.2:c.1595C>G, NM_207521.1:c.1595C>T, NM_207521.1:c.1595C>G, NM_001321860.1:c.1595C>T, NM_001321860.1:c.1595C>G, NP_065393.1:p.Ser738Phe, NP_065393.1:p.Ser738Cys, NP_001308788.1:p.Ser532Phe, NP_001308788.1:p.Ser532Cys, NP_001308833.1:p.Ser532Phe, NP_001308833.1:p.Ser532Cys, NP_001308792.1:p.Ser532Phe, NP_001308792.1:p.Ser532Cys, NP_001308790.1:p.Ser532Phe, NP_001308790.1:p.Ser532Cys, NP_001308791.1:p.Ser532Phe, NP_001308791.1:p.Ser532Cys, NP_997404.1:p.Ser532Phe, NP_997404.1:p.Ser532Cys, NP_001308789.1:p.Ser532Phe, NP_001308789.1:p.Ser532Cys
        10.

        rs1482309554 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:55026266 (GRCh38)
          2:55253402 (GRCh37)
          Canonical SPDI:
          NC_000002.12:55026265:C:T
          Gene:
          RTN4 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          14.

          rs1473227859 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            2:54982557 (GRCh38)
            2:55209693 (GRCh37)
            Canonical SPDI:
            NC_000002.12:54982556:G:A,NC_000002.12:54982556:G:C
            Gene:
            RTN4 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000043/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.54982557G>A, NC_000002.12:g.54982557G>C, NC_000002.11:g.55209693G>A, NC_000002.11:g.55209693G>C, NG_029037.2:g.160275C>T, NG_029037.2:g.160275C>G, NM_020532.5:c.3318C>T, NM_020532.5:c.3318C>G, NM_020532.4:c.3318C>T, NM_020532.4:c.3318C>G, NM_153828.3:c.861C>T, NM_153828.3:c.861C>G, NM_153828.2:c.861C>T, NM_153828.2:c.861C>G, NM_007008.3:c.339C>T, NM_007008.3:c.339C>G, NM_007008.2:c.339C>T, NM_007008.2:c.339C>G, NM_001321859.2:c.2700C>T, NM_001321859.2:c.2700C>G, NM_001321859.1:c.2700C>T, NM_001321859.1:c.2700C>G, NM_001321904.2:c.2700C>T, NM_001321904.2:c.2700C>G, NM_001321904.1:c.2700C>T, NM_001321904.1:c.2700C>G, NM_001321863.2:c.2700C>T, NM_001321863.2:c.2700C>G, NM_001321863.1:c.2700C>T, NM_001321863.1:c.2700C>G, NM_001321861.2:c.2700C>T, NM_001321861.2:c.2700C>G, NM_001321861.1:c.2700C>T, NM_001321861.1:c.2700C>G, NM_001321862.2:c.2700C>T, NM_001321862.2:c.2700C>G, NM_001321862.1:c.2700C>T, NM_001321862.1:c.2700C>G, NM_207521.2:c.2700C>T, NM_207521.2:c.2700C>G, NM_207521.1:c.2700C>T, NM_207521.1:c.2700C>G, NM_207520.2:c.918C>T, NM_207520.2:c.918C>G, NM_207520.1:c.918C>T, NM_207520.1:c.918C>G, NR_135829.2:n.439C>T, NR_135829.2:n.439C>G, NR_135829.1:n.439C>T, NR_135829.1:n.439C>G, NR_135830.2:n.383C>T, NR_135830.2:n.383C>G, NR_135830.1:n.417C>T, NR_135830.1:n.417C>G, NM_001321860.1:c.2700C>T, NM_001321860.1:c.2700C>G
            15.

            rs1472647615 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              2:55025376 (GRCh38)
              2:55252512 (GRCh37)
              Canonical SPDI:
              NC_000002.12:55025375:C:G,NC_000002.12:55025375:C:T
              Gene:
              RTN4 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.55025376C>G, NC_000002.12:g.55025376C>T, NC_000002.11:g.55252512C>G, NC_000002.11:g.55252512C>T, NG_029037.2:g.117456G>C, NG_029037.2:g.117456G>A, NM_020532.5:c.2723G>C, NM_020532.5:c.2723G>A, NM_020532.4:c.2723G>C, NM_020532.4:c.2723G>A, NM_001321859.2:c.2105G>C, NM_001321859.2:c.2105G>A, NM_001321859.1:c.2105G>C, NM_001321859.1:c.2105G>A, NM_001321904.2:c.2105G>C, NM_001321904.2:c.2105G>A, NM_001321904.1:c.2105G>C, NM_001321904.1:c.2105G>A, NM_001321863.2:c.2105G>C, NM_001321863.2:c.2105G>A, NM_001321863.1:c.2105G>C, NM_001321863.1:c.2105G>A, NM_001321861.2:c.2105G>C, NM_001321861.2:c.2105G>A, NM_001321861.1:c.2105G>C, NM_001321861.1:c.2105G>A, NM_001321862.2:c.2105G>C, NM_001321862.2:c.2105G>A, NM_001321862.1:c.2105G>C, NM_001321862.1:c.2105G>A, NM_207521.2:c.2105G>C, NM_207521.2:c.2105G>A, NM_207521.1:c.2105G>C, NM_207521.1:c.2105G>A, NM_001321860.1:c.2105G>C, NM_001321860.1:c.2105G>A, NP_065393.1:p.Gly908Ala, NP_065393.1:p.Gly908Glu, NP_001308788.1:p.Gly702Ala, NP_001308788.1:p.Gly702Glu, NP_001308833.1:p.Gly702Ala, NP_001308833.1:p.Gly702Glu, NP_001308792.1:p.Gly702Ala, NP_001308792.1:p.Gly702Glu, NP_001308790.1:p.Gly702Ala, NP_001308790.1:p.Gly702Glu, NP_001308791.1:p.Gly702Ala, NP_001308791.1:p.Gly702Glu, NP_997404.1:p.Gly702Ala, NP_997404.1:p.Gly702Glu, NP_001308789.1:p.Gly702Ala, NP_001308789.1:p.Gly702Glu
              16.

              rs1472135023 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:55025450 (GRCh38)
                2:55252586 (GRCh37)
                Canonical SPDI:
                NC_000002.12:55025449:A:G
                Gene:
                RTN4 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                19.

                rs1470964858 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:55026296 (GRCh38)
                  2:55253432 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:55026295:T:C
                  Gene:
                  RTN4 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  20.

                  rs1470142012 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    2:55026115 (GRCh38)
                    2:55253251 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:55026114:C:G,NC_000002.12:55026114:C:T
                    Gene:
                    RTN4 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    T=0.000071/1 (TOMMO)
                    HGVS:
                    NC_000002.12:g.55026115C>G, NC_000002.12:g.55026115C>T, NC_000002.11:g.55253251C>G, NC_000002.11:g.55253251C>T, NG_029037.2:g.116717G>C, NG_029037.2:g.116717G>A, NM_020532.5:c.1984G>C, NM_020532.5:c.1984G>A, NM_020532.4:c.1984G>C, NM_020532.4:c.1984G>A, NM_001321859.2:c.1366G>C, NM_001321859.2:c.1366G>A, NM_001321859.1:c.1366G>C, NM_001321859.1:c.1366G>A, NM_001321904.2:c.1366G>C, NM_001321904.2:c.1366G>A, NM_001321904.1:c.1366G>C, NM_001321904.1:c.1366G>A, NM_001321863.2:c.1366G>C, NM_001321863.2:c.1366G>A, NM_001321863.1:c.1366G>C, NM_001321863.1:c.1366G>A, NM_001321861.2:c.1366G>C, NM_001321861.2:c.1366G>A, NM_001321861.1:c.1366G>C, NM_001321861.1:c.1366G>A, NM_001321862.2:c.1366G>C, NM_001321862.2:c.1366G>A, NM_001321862.1:c.1366G>C, NM_001321862.1:c.1366G>A, NM_207521.2:c.1366G>C, NM_207521.2:c.1366G>A, NM_207521.1:c.1366G>C, NM_207521.1:c.1366G>A, NM_001321860.1:c.1366G>C, NM_001321860.1:c.1366G>A, NP_065393.1:p.Ala662Pro, NP_065393.1:p.Ala662Thr, NP_001308788.1:p.Ala456Pro, NP_001308788.1:p.Ala456Thr, NP_001308833.1:p.Ala456Pro, NP_001308833.1:p.Ala456Thr, NP_001308792.1:p.Ala456Pro, NP_001308792.1:p.Ala456Thr, NP_001308790.1:p.Ala456Pro, NP_001308790.1:p.Ala456Thr, NP_001308791.1:p.Ala456Pro, NP_001308791.1:p.Ala456Thr, NP_997404.1:p.Ala456Pro, NP_997404.1:p.Ala456Thr, NP_001308789.1:p.Ala456Pro, NP_001308789.1:p.Ala456Thr

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