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Items: 1 to 20 of 251

1.

rs1482014739 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    10:88314590 (GRCh38)
    10:90074347 (GRCh37)
    Canonical SPDI:
    NC_000010.11:88314589:C:A,NC_000010.11:88314589:C:T
    Gene:
    RNLS (Varview), LOC101929727 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.88314590C>A, NC_000010.11:g.88314590C>T, NC_000010.10:g.90074347C>A, NC_000010.10:g.90074347C>T, XM_011539924.4:c.752G>T, XM_011539924.4:c.752G>A, XM_011539924.3:c.752G>T, XM_011539924.3:c.752G>A, XM_011539924.2:c.752G>T, XM_011539924.2:c.752G>A, XM_011539924.1:c.752G>T, XM_011539924.1:c.752G>A, NM_018363.4:c.752G>T, NM_018363.4:c.752G>A, NM_018363.3:c.752G>T, NM_018363.3:c.752G>A, XM_005269948.4:c.503G>T, XM_005269948.4:c.503G>A, XM_005269948.3:c.503G>T, XM_005269948.3:c.503G>A, XM_005269948.2:c.503G>T, XM_005269948.2:c.503G>A, XM_005269948.1:c.503G>T, XM_005269948.1:c.503G>A, XM_011539927.4:c.752G>T, XM_011539927.4:c.752G>A, XM_011539927.3:c.752G>T, XM_011539927.3:c.752G>A, XM_011539927.2:c.752G>T, XM_011539927.2:c.752G>A, XM_011539927.1:c.752G>T, XM_011539927.1:c.752G>A, XM_017016380.3:c.752G>T, XM_017016380.3:c.752G>A, XM_017016380.2:c.752G>T, XM_017016380.2:c.752G>A, XM_017016380.1:c.752G>T, XM_017016380.1:c.752G>A, XM_017016382.3:c.503G>T, XM_017016382.3:c.503G>A, XM_017016382.2:c.503G>T, XM_017016382.2:c.503G>A, XM_017016382.1:c.503G>T, XM_017016382.1:c.503G>A, XR_001747122.3:n.880G>T, XR_001747122.3:n.880G>A, XR_001747122.2:n.2042G>T, XR_001747122.2:n.2042G>A, XR_001747122.1:n.813G>T, XR_001747122.1:n.813G>A, NM_001031709.3:c.752G>T, NM_001031709.3:c.752G>A, NM_001031709.2:c.752G>T, NM_001031709.2:c.752G>A, XM_017016381.3:c.752G>T, XM_017016381.3:c.752G>A, XM_017016381.2:c.752G>T, XM_017016381.2:c.752G>A, XM_017016381.1:c.752G>T, XM_017016381.1:c.752G>A, XM_017016385.2:c.266G>T, XM_017016385.2:c.266G>A, XM_017016385.1:c.266G>T, XM_017016385.1:c.266G>A, XM_047425435.1:c.752G>T, XM_047425435.1:c.752G>A, XM_047425436.1:c.503G>T, XM_047425436.1:c.503G>A, XP_011538226.1:p.Gly251Val, XP_011538226.1:p.Gly251Glu, NP_060833.1:p.Gly251Val, NP_060833.1:p.Gly251Glu, XP_005270005.1:p.Gly168Val, XP_005270005.1:p.Gly168Glu, XP_011538229.1:p.Gly251Val, XP_011538229.1:p.Gly251Glu, XP_016871869.1:p.Gly251Val, XP_016871869.1:p.Gly251Glu, XP_016871871.1:p.Gly168Val, XP_016871871.1:p.Gly168Glu, NP_001026879.2:p.Gly251Val, NP_001026879.2:p.Gly251Glu, XP_016871870.1:p.Gly251Val, XP_016871870.1:p.Gly251Glu, XP_016871874.1:p.Gly89Val, XP_016871874.1:p.Gly89Glu, XP_047281391.1:p.Gly251Val, XP_047281391.1:p.Gly251Glu, XP_047281392.1:p.Gly168Val, XP_047281392.1:p.Gly168Glu

    2.

    rs1480874437 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:88314502 (GRCh38)
      10:90074259 (GRCh37)
      Canonical SPDI:
      NC_000010.11:88314501:T:C
      Gene:
      RNLS (Varview), LOC101929727 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.88314502T>C, NC_000010.10:g.90074259T>C, XM_011539924.4:c.840A>G, XM_011539924.3:c.840A>G, XM_011539924.2:c.840A>G, XM_011539924.1:c.840A>G, NM_018363.4:c.840A>G, NM_018363.3:c.840A>G, XM_005269948.4:c.591A>G, XM_005269948.3:c.591A>G, XM_005269948.2:c.591A>G, XM_005269948.1:c.591A>G, XM_011539927.4:c.840A>G, XM_011539927.3:c.840A>G, XM_011539927.2:c.840A>G, XM_011539927.1:c.840A>G, XM_017016380.3:c.840A>G, XM_017016380.2:c.840A>G, XM_017016380.1:c.840A>G, XM_017016382.3:c.591A>G, XM_017016382.2:c.591A>G, XM_017016382.1:c.591A>G, XR_001747122.3:n.968A>G, XR_001747122.2:n.2130A>G, XR_001747122.1:n.901A>G, NM_001031709.3:c.840A>G, NM_001031709.2:c.840A>G, XM_017016381.3:c.840A>G, XM_017016381.2:c.840A>G, XM_017016381.1:c.840A>G, XM_017016385.2:c.354A>G, XM_017016385.1:c.354A>G, XM_047425435.1:c.840A>G, XM_047425436.1:c.591A>G

      3.

      rs1476570776 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:88362556 (GRCh38)
        10:90122313 (GRCh37)
        Canonical SPDI:
        NC_000010.11:88362555:A:G
        Gene:
        RNLS (Varview), LOC101929727 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000010.11:g.88362556A>G, NC_000010.10:g.90122313A>G, XM_005269949.6:c.696T>C, XM_005269949.5:c.696T>C, XM_005269949.4:c.696T>C, XM_005269949.3:c.696T>C, XM_005269949.2:c.696T>C, XM_005269949.1:c.696T>C, XM_011539924.4:c.696T>C, XM_011539924.3:c.696T>C, XM_011539924.2:c.696T>C, XM_011539924.1:c.696T>C, NM_018363.4:c.696T>C, NM_018363.3:c.696T>C, XM_005269948.4:c.447T>C, XM_005269948.3:c.447T>C, XM_005269948.2:c.447T>C, XM_005269948.1:c.447T>C, XM_011539927.4:c.696T>C, XM_011539927.3:c.696T>C, XM_011539927.2:c.696T>C, XM_011539927.1:c.696T>C, XM_017016380.3:c.696T>C, XM_017016380.2:c.696T>C, XM_017016380.1:c.696T>C, XM_017016382.3:c.447T>C, XM_017016382.2:c.447T>C, XM_017016382.1:c.447T>C, XR_001747122.3:n.824T>C, XR_001747122.2:n.1986T>C, XR_001747122.1:n.757T>C, NM_001031709.3:c.696T>C, NM_001031709.2:c.696T>C, XM_017016381.3:c.696T>C, XM_017016381.2:c.696T>C, XM_017016381.1:c.696T>C, XM_005269947.3:c.696T>C, XM_005269947.2:c.696T>C, XM_005269947.1:c.696T>C, XM_017016384.3:c.447T>C, XM_017016384.2:c.447T>C, XM_017016384.1:c.447T>C, XM_017016385.2:c.210T>C, XM_017016385.1:c.210T>C, XM_047425435.1:c.696T>C, XM_047425436.1:c.447T>C

        4.

        rs1474063040 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          10:88275023 (GRCh38)
          10:90034781 (GRCh37)
          Canonical SPDI:
          NC_000010.11:88275023:A:AA
          Gene:
          RNLS (Varview), LOC101929727 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AA=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (GnomAD_exomes)
          A=0.000015/4 (TOPMED)
          HGVS:

          5.

          rs1472836064 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            10:88314494 (GRCh38)
            10:90074251 (GRCh37)
            Canonical SPDI:
            NC_000010.11:88314493:G:A,NC_000010.11:88314493:G:C
            Gene:
            RNLS (Varview), LOC101929727 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            HGVS:
            NC_000010.11:g.88314494G>A, NC_000010.11:g.88314494G>C, NC_000010.10:g.90074251G>A, NC_000010.10:g.90074251G>C, XM_011539924.4:c.848C>T, XM_011539924.4:c.848C>G, XM_011539924.3:c.848C>T, XM_011539924.3:c.848C>G, XM_011539924.2:c.848C>T, XM_011539924.2:c.848C>G, XM_011539924.1:c.848C>T, XM_011539924.1:c.848C>G, NM_018363.4:c.848C>T, NM_018363.4:c.848C>G, NM_018363.3:c.848C>T, NM_018363.3:c.848C>G, XM_005269948.4:c.599C>T, XM_005269948.4:c.599C>G, XM_005269948.3:c.599C>T, XM_005269948.3:c.599C>G, XM_005269948.2:c.599C>T, XM_005269948.2:c.599C>G, XM_005269948.1:c.599C>T, XM_005269948.1:c.599C>G, XM_011539927.4:c.848C>T, XM_011539927.4:c.848C>G, XM_011539927.3:c.848C>T, XM_011539927.3:c.848C>G, XM_011539927.2:c.848C>T, XM_011539927.2:c.848C>G, XM_011539927.1:c.848C>T, XM_011539927.1:c.848C>G, XM_017016380.3:c.848C>T, XM_017016380.3:c.848C>G, XM_017016380.2:c.848C>T, XM_017016380.2:c.848C>G, XM_017016380.1:c.848C>T, XM_017016380.1:c.848C>G, XM_017016382.3:c.599C>T, XM_017016382.3:c.599C>G, XM_017016382.2:c.599C>T, XM_017016382.2:c.599C>G, XM_017016382.1:c.599C>T, XM_017016382.1:c.599C>G, XR_001747122.3:n.976C>T, XR_001747122.3:n.976C>G, XR_001747122.2:n.2138C>T, XR_001747122.2:n.2138C>G, XR_001747122.1:n.909C>T, XR_001747122.1:n.909C>G, NM_001031709.3:c.848C>T, NM_001031709.3:c.848C>G, NM_001031709.2:c.848C>T, NM_001031709.2:c.848C>G, XM_017016381.3:c.848C>T, XM_017016381.3:c.848C>G, XM_017016381.2:c.848C>T, XM_017016381.2:c.848C>G, XM_017016381.1:c.848C>T, XM_017016381.1:c.848C>G, XM_017016385.2:c.362C>T, XM_017016385.2:c.362C>G, XM_017016385.1:c.362C>T, XM_017016385.1:c.362C>G, XM_047425435.1:c.848C>T, XM_047425435.1:c.848C>G, XM_047425436.1:c.599C>T, XM_047425436.1:c.599C>G, XP_011538226.1:p.Thr283Ile, XP_011538226.1:p.Thr283Ser, NP_060833.1:p.Thr283Ile, NP_060833.1:p.Thr283Ser, XP_005270005.1:p.Thr200Ile, XP_005270005.1:p.Thr200Ser, XP_011538229.1:p.Thr283Ile, XP_011538229.1:p.Thr283Ser, XP_016871869.1:p.Thr283Ile, XP_016871869.1:p.Thr283Ser, XP_016871871.1:p.Thr200Ile, XP_016871871.1:p.Thr200Ser, NP_001026879.2:p.Thr283Ile, NP_001026879.2:p.Thr283Ser, XP_016871870.1:p.Thr283Ile, XP_016871870.1:p.Thr283Ser, XP_016871874.1:p.Thr121Ile, XP_016871874.1:p.Thr121Ser, XP_047281391.1:p.Thr283Ile, XP_047281391.1:p.Thr283Ser, XP_047281392.1:p.Thr200Ile, XP_047281392.1:p.Thr200Ser

            6.

            rs1466568620 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              10:88573023 (GRCh38)
              10:90332780 (GRCh37)
              Canonical SPDI:
              NC_000010.11:88573022:T:C
              Gene:
              RNLS (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.88573023T>C, NC_000010.10:g.90332780T>C, XM_005269949.6:c.406A>G, XM_005269949.5:c.406A>G, XM_005269949.4:c.406A>G, XM_005269949.3:c.406A>G, XM_005269949.2:c.406A>G, XM_005269949.1:c.406A>G, XM_011539924.4:c.406A>G, XM_011539924.3:c.406A>G, XM_011539924.2:c.406A>G, XM_011539924.1:c.406A>G, NM_018363.4:c.406A>G, NM_018363.3:c.406A>G, XM_005269948.4:c.157A>G, XM_005269948.3:c.157A>G, XM_005269948.2:c.157A>G, XM_005269948.1:c.157A>G, XM_011539927.4:c.406A>G, XM_011539927.3:c.406A>G, XM_011539927.2:c.406A>G, XM_011539927.1:c.406A>G, XM_017016380.3:c.406A>G, XM_017016380.2:c.406A>G, XM_017016380.1:c.406A>G, XM_017016382.3:c.157A>G, XM_017016382.2:c.157A>G, XM_017016382.1:c.157A>G, XR_001747122.3:n.534A>G, XR_001747122.2:n.1696A>G, XR_001747122.1:n.467A>G, NM_001031709.3:c.406A>G, NM_001031709.2:c.406A>G, XM_017016381.3:c.406A>G, XM_017016381.2:c.406A>G, XM_017016381.1:c.406A>G, XM_005269947.3:c.406A>G, XM_005269947.2:c.406A>G, XM_005269947.1:c.406A>G, XM_017016384.3:c.157A>G, XM_017016384.2:c.157A>G, XM_017016384.1:c.157A>G, XM_047425435.1:c.406A>G, XM_047425436.1:c.157A>G, XP_005270006.1:p.Asn136Asp, XP_011538226.1:p.Asn136Asp, NP_060833.1:p.Asn136Asp, XP_005270005.1:p.Asn53Asp, XP_011538229.1:p.Asn136Asp, XP_016871869.1:p.Asn136Asp, XP_016871871.1:p.Asn53Asp, NP_001026879.2:p.Asn136Asp, XP_016871870.1:p.Asn136Asp, XP_005270004.1:p.Asn136Asp, XP_016871873.1:p.Asn53Asp, XP_047281391.1:p.Asn136Asp, XP_047281392.1:p.Asn53Asp

              7.

              rs1453970746 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:88314493 (GRCh38)
                10:90074250 (GRCh37)
                Canonical SPDI:
                NC_000010.11:88314492:G:A
                Gene:
                RNLS (Varview), LOC101929727 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                NC_000010.11:g.88314493G>A, NC_000010.10:g.90074250G>A, XM_011539924.4:c.849C>T, XM_011539924.3:c.849C>T, XM_011539924.2:c.849C>T, XM_011539924.1:c.849C>T, NM_018363.4:c.849C>T, NM_018363.3:c.849C>T, XM_005269948.4:c.600C>T, XM_005269948.3:c.600C>T, XM_005269948.2:c.600C>T, XM_005269948.1:c.600C>T, XM_011539927.4:c.849C>T, XM_011539927.3:c.849C>T, XM_011539927.2:c.849C>T, XM_011539927.1:c.849C>T, XM_017016380.3:c.849C>T, XM_017016380.2:c.849C>T, XM_017016380.1:c.849C>T, XM_017016382.3:c.600C>T, XM_017016382.2:c.600C>T, XM_017016382.1:c.600C>T, XR_001747122.3:n.977C>T, XR_001747122.2:n.2139C>T, XR_001747122.1:n.910C>T, NM_001031709.3:c.849C>T, NM_001031709.2:c.849C>T, XM_017016381.3:c.849C>T, XM_017016381.2:c.849C>T, XM_017016381.1:c.849C>T, XM_017016385.2:c.363C>T, XM_017016385.1:c.363C>T, XM_047425435.1:c.849C>T, XM_047425436.1:c.600C>T

                8.

                rs1451910922 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  10:88314598 (GRCh38)
                  10:90074355 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:88314597:G:A
                  Gene:
                  RNLS (Varview), LOC101929727 (Varview)
                  Functional Consequence:
                  synonymous_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000010.11:g.88314598G>A, NC_000010.10:g.90074355G>A, XM_011539924.4:c.744C>T, XM_011539924.3:c.744C>T, XM_011539924.2:c.744C>T, XM_011539924.1:c.744C>T, NM_018363.4:c.744C>T, NM_018363.3:c.744C>T, XM_005269948.4:c.495C>T, XM_005269948.3:c.495C>T, XM_005269948.2:c.495C>T, XM_005269948.1:c.495C>T, XM_011539927.4:c.744C>T, XM_011539927.3:c.744C>T, XM_011539927.2:c.744C>T, XM_011539927.1:c.744C>T, XM_017016380.3:c.744C>T, XM_017016380.2:c.744C>T, XM_017016380.1:c.744C>T, XM_017016382.3:c.495C>T, XM_017016382.2:c.495C>T, XM_017016382.1:c.495C>T, XR_001747122.3:n.872C>T, XR_001747122.2:n.2034C>T, XR_001747122.1:n.805C>T, NM_001031709.3:c.744C>T, NM_001031709.2:c.744C>T, XM_017016381.3:c.744C>T, XM_017016381.2:c.744C>T, XM_017016381.1:c.744C>T, XM_017016385.2:c.258C>T, XM_017016385.1:c.258C>T, XM_047425435.1:c.744C>T, XM_047425436.1:c.495C>T

                  9.

                  rs1451436445 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    10:88362565 (GRCh38)
                    10:90122322 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:88362564:C:A,NC_000010.11:88362564:C:T
                    Gene:
                    RNLS (Varview), LOC101929727 (Varview)
                    Functional Consequence:
                    synonymous_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                    HGVS:
                    NC_000010.11:g.88362565C>A, NC_000010.11:g.88362565C>T, NC_000010.10:g.90122322C>A, NC_000010.10:g.90122322C>T, XM_005269949.6:c.687G>T, XM_005269949.6:c.687G>A, XM_005269949.5:c.687G>T, XM_005269949.5:c.687G>A, XM_005269949.4:c.687G>T, XM_005269949.4:c.687G>A, XM_005269949.3:c.687G>T, XM_005269949.3:c.687G>A, XM_005269949.2:c.687G>T, XM_005269949.2:c.687G>A, XM_005269949.1:c.687G>T, XM_005269949.1:c.687G>A, XM_011539924.4:c.687G>T, XM_011539924.4:c.687G>A, XM_011539924.3:c.687G>T, XM_011539924.3:c.687G>A, XM_011539924.2:c.687G>T, XM_011539924.2:c.687G>A, XM_011539924.1:c.687G>T, XM_011539924.1:c.687G>A, NM_018363.4:c.687G>T, NM_018363.4:c.687G>A, NM_018363.3:c.687G>T, NM_018363.3:c.687G>A, XM_005269948.4:c.438G>T, XM_005269948.4:c.438G>A, XM_005269948.3:c.438G>T, XM_005269948.3:c.438G>A, XM_005269948.2:c.438G>T, XM_005269948.2:c.438G>A, XM_005269948.1:c.438G>T, XM_005269948.1:c.438G>A, XM_011539927.4:c.687G>T, XM_011539927.4:c.687G>A, XM_011539927.3:c.687G>T, XM_011539927.3:c.687G>A, XM_011539927.2:c.687G>T, XM_011539927.2:c.687G>A, XM_011539927.1:c.687G>T, XM_011539927.1:c.687G>A, XM_017016380.3:c.687G>T, XM_017016380.3:c.687G>A, XM_017016380.2:c.687G>T, XM_017016380.2:c.687G>A, XM_017016380.1:c.687G>T, XM_017016380.1:c.687G>A, XM_017016382.3:c.438G>T, XM_017016382.3:c.438G>A, XM_017016382.2:c.438G>T, XM_017016382.2:c.438G>A, XM_017016382.1:c.438G>T, XM_017016382.1:c.438G>A, XR_001747122.3:n.815G>T, XR_001747122.3:n.815G>A, XR_001747122.2:n.1977G>T, XR_001747122.2:n.1977G>A, XR_001747122.1:n.748G>T, XR_001747122.1:n.748G>A, NM_001031709.3:c.687G>T, NM_001031709.3:c.687G>A, NM_001031709.2:c.687G>T, NM_001031709.2:c.687G>A, XM_017016381.3:c.687G>T, XM_017016381.3:c.687G>A, XM_017016381.2:c.687G>T, XM_017016381.2:c.687G>A, XM_017016381.1:c.687G>T, XM_017016381.1:c.687G>A, XM_005269947.3:c.687G>T, XM_005269947.3:c.687G>A, XM_005269947.2:c.687G>T, XM_005269947.2:c.687G>A, XM_005269947.1:c.687G>T, XM_005269947.1:c.687G>A, XM_017016384.3:c.438G>T, XM_017016384.3:c.438G>A, XM_017016384.2:c.438G>T, XM_017016384.2:c.438G>A, XM_017016384.1:c.438G>T, XM_017016384.1:c.438G>A, XM_017016385.2:c.201G>T, XM_017016385.2:c.201G>A, XM_017016385.1:c.201G>T, XM_017016385.1:c.201G>A, XM_047425435.1:c.687G>T, XM_047425435.1:c.687G>A, XM_047425436.1:c.438G>T, XM_047425436.1:c.438G>A, XP_005270006.1:p.Lys229Asn, XP_011538226.1:p.Lys229Asn, NP_060833.1:p.Lys229Asn, XP_005270005.1:p.Lys146Asn, XP_011538229.1:p.Lys229Asn, XP_016871869.1:p.Lys229Asn, XP_016871871.1:p.Lys146Asn, NP_001026879.2:p.Lys229Asn, XP_016871870.1:p.Lys229Asn, XP_005270004.1:p.Lys229Asn, XP_016871873.1:p.Lys146Asn, XP_016871874.1:p.Lys67Asn, XP_047281391.1:p.Lys229Asn, XP_047281392.1:p.Lys146Asn

                    10.

                    rs1450778976 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      10:88362613 (GRCh38)
                      10:90122371 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:88362613:T:TT
                      Gene:
                      RNLS (Varview), LOC101929727 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.88362614dup, NC_000010.10:g.90122371dup, XM_005269949.6:c.638dup, XM_005269949.5:c.638dup, XM_005269949.4:c.638dup, XM_005269949.3:c.638dup, XM_005269949.2:c.638dup, XM_005269949.1:c.638dup, XM_011539924.4:c.638dup, XM_011539924.3:c.638dup, XM_011539924.2:c.638dup, XM_011539924.1:c.638dup, NM_018363.4:c.638dup, NM_018363.3:c.638dup, XM_005269948.4:c.389dup, XM_005269948.3:c.389dup, XM_005269948.2:c.389dup, XM_005269948.1:c.389dup, XM_011539927.4:c.638dup, XM_011539927.3:c.638dup, XM_011539927.2:c.638dup, XM_011539927.1:c.638dup, XM_017016380.3:c.638dup, XM_017016380.2:c.638dup, XM_017016380.1:c.638dup, XM_017016382.3:c.389dup, XM_017016382.2:c.389dup, XM_017016382.1:c.389dup, XR_001747122.3:n.766dup, XR_001747122.2:n.1928dup, XR_001747122.1:n.699dup, NM_001031709.3:c.638dup, NM_001031709.2:c.638dup, XM_017016381.3:c.638dup, XM_017016381.2:c.638dup, XM_017016381.1:c.638dup, XM_005269947.3:c.638dup, XM_005269947.2:c.638dup, XM_005269947.1:c.638dup, XM_017016384.3:c.389dup, XM_017016384.2:c.389dup, XM_017016384.1:c.389dup, XM_017016385.2:c.152dup, XM_017016385.1:c.152dup, XM_047425435.1:c.638dup, XM_047425436.1:c.389dup, XP_005270006.1:p.Tyr214fs, XP_011538226.1:p.Tyr214fs, NP_060833.1:p.Tyr214fs, XP_005270005.1:p.Tyr131fs, XP_011538229.1:p.Tyr214fs, XP_016871869.1:p.Tyr214fs, XP_016871871.1:p.Tyr131fs, NP_001026879.2:p.Tyr214fs, XP_016871870.1:p.Tyr214fs, XP_005270004.1:p.Tyr214fs, XP_016871873.1:p.Tyr131fs, XP_016871874.1:p.Tyr52fs, XP_047281391.1:p.Tyr214fs, XP_047281392.1:p.Tyr131fs

                      11.

                      rs1444234935 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        10:88362653 (GRCh38)
                        10:90122410 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:88362652:T:C
                        Gene:
                        RNLS (Varview), LOC101929727 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.88362653T>C, NC_000010.10:g.90122410T>C, XM_005269949.6:c.599A>G, XM_005269949.5:c.599A>G, XM_005269949.4:c.599A>G, XM_005269949.3:c.599A>G, XM_005269949.2:c.599A>G, XM_005269949.1:c.599A>G, XM_011539924.4:c.599A>G, XM_011539924.3:c.599A>G, XM_011539924.2:c.599A>G, XM_011539924.1:c.599A>G, NM_018363.4:c.599A>G, NM_018363.3:c.599A>G, XM_005269948.4:c.350A>G, XM_005269948.3:c.350A>G, XM_005269948.2:c.350A>G, XM_005269948.1:c.350A>G, XM_011539927.4:c.599A>G, XM_011539927.3:c.599A>G, XM_011539927.2:c.599A>G, XM_011539927.1:c.599A>G, XM_017016380.3:c.599A>G, XM_017016380.2:c.599A>G, XM_017016380.1:c.599A>G, XM_017016382.3:c.350A>G, XM_017016382.2:c.350A>G, XM_017016382.1:c.350A>G, XR_001747122.3:n.727A>G, XR_001747122.2:n.1889A>G, XR_001747122.1:n.660A>G, NM_001031709.3:c.599A>G, NM_001031709.2:c.599A>G, XM_017016381.3:c.599A>G, XM_017016381.2:c.599A>G, XM_017016381.1:c.599A>G, XM_005269947.3:c.599A>G, XM_005269947.2:c.599A>G, XM_005269947.1:c.599A>G, XM_017016384.3:c.350A>G, XM_017016384.2:c.350A>G, XM_017016384.1:c.350A>G, XM_017016385.2:c.113A>G, XM_017016385.1:c.113A>G, XM_047425435.1:c.599A>G, XM_047425436.1:c.350A>G, XP_005270006.1:p.Tyr200Cys, XP_011538226.1:p.Tyr200Cys, NP_060833.1:p.Tyr200Cys, XP_005270005.1:p.Tyr117Cys, XP_011538229.1:p.Tyr200Cys, XP_016871869.1:p.Tyr200Cys, XP_016871871.1:p.Tyr117Cys, NP_001026879.2:p.Tyr200Cys, XP_016871870.1:p.Tyr200Cys, XP_005270004.1:p.Tyr200Cys, XP_016871873.1:p.Tyr117Cys, XP_016871874.1:p.Tyr38Cys, XP_047281391.1:p.Tyr200Cys, XP_047281392.1:p.Tyr117Cys

                        12.

                        rs1442972094 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:88583161 (GRCh38)
                          10:90342918 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:88583160:C:T
                          Gene:
                          RNLS (Varview), LIPJ (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                          HGVS:
                          NC_000010.11:g.88583161C>T, NC_000010.10:g.90342918C>T, XM_005269949.6:c.30G>A, XM_005269949.5:c.30G>A, XM_005269949.4:c.30G>A, XM_005269949.3:c.30G>A, XM_005269949.2:c.30G>A, XM_005269949.1:c.30G>A, XM_011539924.4:c.30G>A, XM_011539924.3:c.30G>A, XM_011539924.2:c.30G>A, XM_011539924.1:c.30G>A, XM_006717635.4:c.-1078C>T, NM_018363.4:c.30G>A, NM_018363.3:c.30G>A, XM_005269948.4:c.30G>A, XM_005269948.3:c.30G>A, XM_005269948.2:c.30G>A, XM_005269948.1:c.30G>A, XM_011539927.4:c.30G>A, XM_011539927.3:c.30G>A, XM_011539927.2:c.30G>A, XM_011539927.1:c.30G>A, XM_017016380.3:c.30G>A, XM_017016380.2:c.30G>A, XM_017016380.1:c.30G>A, XM_017016382.3:c.30G>A, XM_017016382.2:c.30G>A, XM_017016382.1:c.30G>A, XR_001747122.3:n.158G>A, XR_001747122.2:n.1320G>A, XR_001747122.1:n.91G>A, NM_001031709.3:c.30G>A, NM_001031709.2:c.30G>A, XM_017016381.3:c.30G>A, XM_017016381.2:c.30G>A, XM_017016381.1:c.30G>A, XM_005269947.3:c.30G>A, XM_005269947.2:c.30G>A, XM_005269947.1:c.30G>A, XM_017016384.3:c.30G>A, XM_017016384.2:c.30G>A, XM_017016384.1:c.30G>A, NR_172141.1:n.255C>T, XM_047425435.1:c.30G>A, XM_047425436.1:c.30G>A

                          13.

                          rs1438129082 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TT [Show Flanks]
                            Chromosome:
                            10:88362565 (GRCh38)
                            10:90122323 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:88362565:TT:TTTT
                            Gene:
                            RNLS (Varview), LOC101929727 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TTTT=0./0 (ALFA)
                            TT=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000010.11:g.88362566_88362567dup, NC_000010.10:g.90122323_90122324dup, XM_005269949.6:c.685_686dup, XM_005269949.5:c.685_686dup, XM_005269949.4:c.685_686dup, XM_005269949.3:c.685_686dup, XM_005269949.2:c.685_686dup, XM_005269949.1:c.685_686dup, XM_011539924.4:c.685_686dup, XM_011539924.3:c.685_686dup, XM_011539924.2:c.685_686dup, XM_011539924.1:c.685_686dup, NM_018363.4:c.685_686dup, NM_018363.3:c.685_686dup, XM_005269948.4:c.436_437dup, XM_005269948.3:c.436_437dup, XM_005269948.2:c.436_437dup, XM_005269948.1:c.436_437dup, XM_011539927.4:c.685_686dup, XM_011539927.3:c.685_686dup, XM_011539927.2:c.685_686dup, XM_011539927.1:c.685_686dup, XM_017016380.3:c.685_686dup, XM_017016380.2:c.685_686dup, XM_017016380.1:c.685_686dup, XM_017016382.3:c.436_437dup, XM_017016382.2:c.436_437dup, XM_017016382.1:c.436_437dup, XR_001747122.3:n.813_814dup, XR_001747122.2:n.1975_1976dup, XR_001747122.1:n.746_747dup, NM_001031709.3:c.685_686dup, NM_001031709.2:c.685_686dup, XM_017016381.3:c.685_686dup, XM_017016381.2:c.685_686dup, XM_017016381.1:c.685_686dup, XM_005269947.3:c.685_686dup, XM_005269947.2:c.685_686dup, XM_005269947.1:c.685_686dup, XM_017016384.3:c.436_437dup, XM_017016384.2:c.436_437dup, XM_017016384.1:c.436_437dup, XM_017016385.2:c.199_200dup, XM_017016385.1:c.199_200dup, XM_047425435.1:c.685_686dup, XM_047425436.1:c.436_437dup, XP_005270006.1:p.Lys230fs, XP_011538226.1:p.Lys230fs, NP_060833.1:p.Lys230fs, XP_005270005.1:p.Lys147fs, XP_011538229.1:p.Lys230fs, XP_016871869.1:p.Lys230fs, XP_016871871.1:p.Lys147fs, NP_001026879.2:p.Lys230fs, XP_016871870.1:p.Lys230fs, XP_005270004.1:p.Lys230fs, XP_016871873.1:p.Lys147fs, XP_016871874.1:p.Lys68fs, XP_047281391.1:p.Lys230fs, XP_047281392.1:p.Lys147fs

                            14.

                            rs1432139569 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              10:88583171 (GRCh38)
                              10:90342928 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:88583170:A:G
                              Gene:
                              RNLS (Varview), LIPJ (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000010.11:g.88583171A>G, NC_000010.10:g.90342928A>G, XM_005269949.6:c.20T>C, XM_005269949.5:c.20T>C, XM_005269949.4:c.20T>C, XM_005269949.3:c.20T>C, XM_005269949.2:c.20T>C, XM_005269949.1:c.20T>C, XM_011539924.4:c.20T>C, XM_011539924.3:c.20T>C, XM_011539924.2:c.20T>C, XM_011539924.1:c.20T>C, XM_006717635.4:c.-1068A>G, NM_018363.4:c.20T>C, NM_018363.3:c.20T>C, XM_005269948.4:c.20T>C, XM_005269948.3:c.20T>C, XM_005269948.2:c.20T>C, XM_005269948.1:c.20T>C, XM_011539927.4:c.20T>C, XM_011539927.3:c.20T>C, XM_011539927.2:c.20T>C, XM_011539927.1:c.20T>C, XM_017016380.3:c.20T>C, XM_017016380.2:c.20T>C, XM_017016380.1:c.20T>C, XM_017016382.3:c.20T>C, XM_017016382.2:c.20T>C, XM_017016382.1:c.20T>C, XR_001747122.3:n.148T>C, XR_001747122.2:n.1310T>C, XR_001747122.1:n.81T>C, NM_001031709.3:c.20T>C, NM_001031709.2:c.20T>C, XM_017016381.3:c.20T>C, XM_017016381.2:c.20T>C, XM_017016381.1:c.20T>C, XM_005269947.3:c.20T>C, XM_005269947.2:c.20T>C, XM_005269947.1:c.20T>C, XM_017016384.3:c.20T>C, XM_017016384.2:c.20T>C, XM_017016384.1:c.20T>C, NR_172141.1:n.265A>G, XM_047425435.1:c.20T>C, XM_047425436.1:c.20T>C, XP_005270006.1:p.Val7Ala, XP_011538226.1:p.Val7Ala, NP_060833.1:p.Val7Ala, XP_005270005.1:p.Val7Ala, XP_011538229.1:p.Val7Ala, XP_016871869.1:p.Val7Ala, XP_016871871.1:p.Val7Ala, NP_001026879.2:p.Val7Ala, XP_016871870.1:p.Val7Ala, XP_005270004.1:p.Val7Ala, XP_016871873.1:p.Val7Ala, XP_047281391.1:p.Val7Ala, XP_047281392.1:p.Val7Ala

                              15.

                              rs1424572409 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:88572939 (GRCh38)
                                10:90332696 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:88572938:G:A
                                Gene:
                                RNLS (Varview)
                                Functional Consequence:
                                missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by cluster
                                HGVS:
                                NC_000010.11:g.88572939G>A, NC_000010.10:g.90332696G>A, XM_005269949.6:c.490C>T, XM_005269949.5:c.490C>T, XM_005269949.4:c.490C>T, XM_005269949.3:c.490C>T, XM_005269949.2:c.490C>T, XM_005269949.1:c.490C>T, XM_011539924.4:c.490C>T, XM_011539924.3:c.490C>T, XM_011539924.2:c.490C>T, XM_011539924.1:c.490C>T, NM_018363.4:c.490C>T, NM_018363.3:c.490C>T, XM_005269948.4:c.241C>T, XM_005269948.3:c.241C>T, XM_005269948.2:c.241C>T, XM_005269948.1:c.241C>T, XM_011539927.4:c.490C>T, XM_011539927.3:c.490C>T, XM_011539927.2:c.490C>T, XM_011539927.1:c.490C>T, XM_017016380.3:c.490C>T, XM_017016380.2:c.490C>T, XM_017016380.1:c.490C>T, XM_017016382.3:c.241C>T, XM_017016382.2:c.241C>T, XM_017016382.1:c.241C>T, XR_001747122.3:n.618C>T, XR_001747122.2:n.1780C>T, XR_001747122.1:n.551C>T, NM_001031709.3:c.490C>T, NM_001031709.2:c.490C>T, XM_017016381.3:c.490C>T, XM_017016381.2:c.490C>T, XM_017016381.1:c.490C>T, XM_005269947.3:c.490C>T, XM_005269947.2:c.490C>T, XM_005269947.1:c.490C>T, XM_017016384.3:c.241C>T, XM_017016384.2:c.241C>T, XM_017016384.1:c.241C>T, XM_047425435.1:c.490C>T, XM_047425436.1:c.241C>T, XP_005270006.1:p.Pro164Ser, XP_011538226.1:p.Pro164Ser, NP_060833.1:p.Pro164Ser, XP_005270005.1:p.Pro81Ser, XP_011538229.1:p.Pro164Ser, XP_016871869.1:p.Pro164Ser, XP_016871871.1:p.Pro81Ser, NP_001026879.2:p.Pro164Ser, XP_016871870.1:p.Pro164Ser, XP_005270004.1:p.Pro164Ser, XP_016871873.1:p.Pro81Ser, XP_047281391.1:p.Pro164Ser, XP_047281392.1:p.Pro81Ser

                                16.

                                rs1424501642 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  10:88573055 (GRCh38)
                                  10:90332812 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:88573054:T:G
                                  Gene:
                                  RNLS (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000010.11:g.88573055T>G, NC_000010.10:g.90332812T>G, XM_005269949.6:c.374A>C, XM_005269949.5:c.374A>C, XM_005269949.4:c.374A>C, XM_005269949.3:c.374A>C, XM_005269949.2:c.374A>C, XM_005269949.1:c.374A>C, XM_011539924.4:c.374A>C, XM_011539924.3:c.374A>C, XM_011539924.2:c.374A>C, XM_011539924.1:c.374A>C, NM_018363.4:c.374A>C, NM_018363.3:c.374A>C, XM_005269948.4:c.125A>C, XM_005269948.3:c.125A>C, XM_005269948.2:c.125A>C, XM_005269948.1:c.125A>C, XM_011539927.4:c.374A>C, XM_011539927.3:c.374A>C, XM_011539927.2:c.374A>C, XM_011539927.1:c.374A>C, XM_017016380.3:c.374A>C, XM_017016380.2:c.374A>C, XM_017016380.1:c.374A>C, XM_017016382.3:c.125A>C, XM_017016382.2:c.125A>C, XM_017016382.1:c.125A>C, XR_001747122.3:n.502A>C, XR_001747122.2:n.1664A>C, XR_001747122.1:n.435A>C, NM_001031709.3:c.374A>C, NM_001031709.2:c.374A>C, XM_017016381.3:c.374A>C, XM_017016381.2:c.374A>C, XM_017016381.1:c.374A>C, XM_005269947.3:c.374A>C, XM_005269947.2:c.374A>C, XM_005269947.1:c.374A>C, XM_017016384.3:c.125A>C, XM_017016384.2:c.125A>C, XM_017016384.1:c.125A>C, XM_047425435.1:c.374A>C, XM_047425436.1:c.125A>C, XP_005270006.1:p.Glu125Ala, XP_011538226.1:p.Glu125Ala, NP_060833.1:p.Glu125Ala, XP_005270005.1:p.Glu42Ala, XP_011538229.1:p.Glu125Ala, XP_016871869.1:p.Glu125Ala, XP_016871871.1:p.Glu42Ala, NP_001026879.2:p.Glu125Ala, XP_016871870.1:p.Glu125Ala, XP_005270004.1:p.Glu125Ala, XP_016871873.1:p.Glu42Ala, XP_047281391.1:p.Glu125Ala, XP_047281392.1:p.Glu42Ala

                                  17.

                                  rs1418679185 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    10:88362581 (GRCh38)
                                    10:90122338 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:88362580:A:G
                                    Gene:
                                    RNLS (Varview), LOC101929727 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.88362581A>G, NC_000010.10:g.90122338A>G, XM_005269949.6:c.671T>C, XM_005269949.5:c.671T>C, XM_005269949.4:c.671T>C, XM_005269949.3:c.671T>C, XM_005269949.2:c.671T>C, XM_005269949.1:c.671T>C, XM_011539924.4:c.671T>C, XM_011539924.3:c.671T>C, XM_011539924.2:c.671T>C, XM_011539924.1:c.671T>C, NM_018363.4:c.671T>C, NM_018363.3:c.671T>C, XM_005269948.4:c.422T>C, XM_005269948.3:c.422T>C, XM_005269948.2:c.422T>C, XM_005269948.1:c.422T>C, XM_011539927.4:c.671T>C, XM_011539927.3:c.671T>C, XM_011539927.2:c.671T>C, XM_011539927.1:c.671T>C, XM_017016380.3:c.671T>C, XM_017016380.2:c.671T>C, XM_017016380.1:c.671T>C, XM_017016382.3:c.422T>C, XM_017016382.2:c.422T>C, XM_017016382.1:c.422T>C, XR_001747122.3:n.799T>C, XR_001747122.2:n.1961T>C, XR_001747122.1:n.732T>C, NM_001031709.3:c.671T>C, NM_001031709.2:c.671T>C, XM_017016381.3:c.671T>C, XM_017016381.2:c.671T>C, XM_017016381.1:c.671T>C, XM_005269947.3:c.671T>C, XM_005269947.2:c.671T>C, XM_005269947.1:c.671T>C, XM_017016384.3:c.422T>C, XM_017016384.2:c.422T>C, XM_017016384.1:c.422T>C, XM_017016385.2:c.185T>C, XM_017016385.1:c.185T>C, XM_047425435.1:c.671T>C, XM_047425436.1:c.422T>C, XP_005270006.1:p.Val224Ala, XP_011538226.1:p.Val224Ala, NP_060833.1:p.Val224Ala, XP_005270005.1:p.Val141Ala, XP_011538229.1:p.Val224Ala, XP_016871869.1:p.Val224Ala, XP_016871871.1:p.Val141Ala, NP_001026879.2:p.Val224Ala, XP_016871870.1:p.Val224Ala, XP_005270004.1:p.Val224Ala, XP_016871873.1:p.Val141Ala, XP_016871874.1:p.Val62Ala, XP_047281391.1:p.Val224Ala, XP_047281392.1:p.Val141Ala

                                    18.

                                    rs1418451610 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      10:88274978 (GRCh38)
                                      10:90034735 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:88274977:T:C
                                      Gene:
                                      RNLS (Varview), LOC101929727 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000102/2 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1415349352 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        10:88314515 (GRCh38)
                                        10:90074272 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:88314514:C:G
                                        Gene:
                                        RNLS (Varview), LOC101929727 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.88314515C>G, NC_000010.10:g.90074272C>G, XM_011539924.4:c.827G>C, XM_011539924.3:c.827G>C, XM_011539924.2:c.827G>C, XM_011539924.1:c.827G>C, NM_018363.4:c.827G>C, NM_018363.3:c.827G>C, XM_005269948.4:c.578G>C, XM_005269948.3:c.578G>C, XM_005269948.2:c.578G>C, XM_005269948.1:c.578G>C, XM_011539927.4:c.827G>C, XM_011539927.3:c.827G>C, XM_011539927.2:c.827G>C, XM_011539927.1:c.827G>C, XM_017016380.3:c.827G>C, XM_017016380.2:c.827G>C, XM_017016380.1:c.827G>C, XM_017016382.3:c.578G>C, XM_017016382.2:c.578G>C, XM_017016382.1:c.578G>C, XR_001747122.3:n.955G>C, XR_001747122.2:n.2117G>C, XR_001747122.1:n.888G>C, NM_001031709.3:c.827G>C, NM_001031709.2:c.827G>C, XM_017016381.3:c.827G>C, XM_017016381.2:c.827G>C, XM_017016381.1:c.827G>C, XM_017016385.2:c.341G>C, XM_017016385.1:c.341G>C, XM_047425435.1:c.827G>C, XM_047425436.1:c.578G>C, XP_011538226.1:p.Gly276Ala, NP_060833.1:p.Gly276Ala, XP_005270005.1:p.Gly193Ala, XP_011538229.1:p.Gly276Ala, XP_016871869.1:p.Gly276Ala, XP_016871871.1:p.Gly193Ala, NP_001026879.2:p.Gly276Ala, XP_016871870.1:p.Gly276Ala, XP_016871874.1:p.Gly114Ala, XP_047281391.1:p.Gly276Ala, XP_047281392.1:p.Gly193Ala

                                        20.

                                        rs1407170462 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:88314567 (GRCh38)
                                          10:90074324 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:88314566:T:C
                                          Gene:
                                          RNLS (Varview), LOC101929727 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:
                                          NC_000010.11:g.88314567T>C, NC_000010.10:g.90074324T>C, XM_011539924.4:c.775A>G, XM_011539924.3:c.775A>G, XM_011539924.2:c.775A>G, XM_011539924.1:c.775A>G, NM_018363.4:c.775A>G, NM_018363.3:c.775A>G, XM_005269948.4:c.526A>G, XM_005269948.3:c.526A>G, XM_005269948.2:c.526A>G, XM_005269948.1:c.526A>G, XM_011539927.4:c.775A>G, XM_011539927.3:c.775A>G, XM_011539927.2:c.775A>G, XM_011539927.1:c.775A>G, XM_017016380.3:c.775A>G, XM_017016380.2:c.775A>G, XM_017016380.1:c.775A>G, XM_017016382.3:c.526A>G, XM_017016382.2:c.526A>G, XM_017016382.1:c.526A>G, XR_001747122.3:n.903A>G, XR_001747122.2:n.2065A>G, XR_001747122.1:n.836A>G, NM_001031709.3:c.775A>G, NM_001031709.2:c.775A>G, XM_017016381.3:c.775A>G, XM_017016381.2:c.775A>G, XM_017016381.1:c.775A>G, XM_017016385.2:c.289A>G, XM_017016385.1:c.289A>G, XM_047425435.1:c.775A>G, XM_047425436.1:c.526A>G, XP_011538226.1:p.Ile259Val, NP_060833.1:p.Ile259Val, XP_005270005.1:p.Ile176Val, XP_011538229.1:p.Ile259Val, XP_016871869.1:p.Ile259Val, XP_016871871.1:p.Ile176Val, NP_001026879.2:p.Ile259Val, XP_016871870.1:p.Ile259Val, XP_016871874.1:p.Ile97Val, XP_047281391.1:p.Ile259Val, XP_047281392.1:p.Ile176Val

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