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Items: 1 to 20 of 638

1.

rs1490195236 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:193076008 (GRCh38)
    1:193045138 (GRCh37)
    Canonical SPDI:
    NC_000001.11:193076007:C:T
    Gene:
    RO60 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.193076008C>T, NC_000001.10:g.193045138C>T, XM_006711495.5:c.835C>T, XM_006711495.4:c.835C>T, XM_006711495.3:c.835C>T, XM_006711495.2:c.835C>T, XM_006711495.1:c.835C>T, NM_004600.5:c.769C>T, XM_006711496.4:c.835C>T, XM_006711496.3:c.835C>T, XM_006711496.2:c.835C>T, XM_006711496.1:c.835C>T, XM_006711497.4:c.769C>T, XM_006711497.3:c.769C>T, XM_006711497.2:c.769C>T, XM_006711497.1:c.769C>T, XM_017002181.3:c.769C>T, XM_017002181.2:c.769C>T, XM_017002181.1:c.769C>T, XM_011509922.3:c.-57C>T, XM_011509922.2:c.-57C>T, XM_011509922.1:c.-57C>T, XM_017002180.2:c.835C>T, XM_017002180.1:c.835C>T, NM_001173524.2:c.769C>T, NM_001173524.1:c.769C>T, XM_017002182.2:c.769C>T, XM_017002182.1:c.769C>T, NM_001331020.2:c.-57C>T, NM_001331020.1:c.-57C>T, NM_001042370.2:c.769C>T, NM_001042369.2:c.769C>T, XM_047428924.1:c.769C>T, XM_047428920.1:c.835C>T, NR_033393.1:n.544C>T, NM_001173525.1:c.769C>T, XP_006711558.1:p.His279Tyr, NP_004591.2:p.His257Tyr, XP_006711559.1:p.His279Tyr, XP_006711560.1:p.His257Tyr, XP_016857670.1:p.His257Tyr, XP_016857669.1:p.His279Tyr, NP_001166995.1:p.His257Tyr, XP_016857671.1:p.His257Tyr, NP_001035829.2:p.His257Tyr, NP_001035828.1:p.His257Tyr, XP_047284880.1:p.His257Tyr, XP_047284876.1:p.His279Tyr, NP_001166996.1:p.His257Tyr

    2.

    rs1488904443 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      1:193082211 (GRCh38)
      1:193051341 (GRCh37)
      Canonical SPDI:
      NC_000001.11:193082210:C:A
      Gene:
      RO60 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000001.11:g.193082211C>A, NC_000001.10:g.193051341C>A, XM_006711495.5:c.1295C>A, XM_006711495.4:c.1295C>A, XM_006711495.3:c.1295C>A, XM_006711495.2:c.1295C>A, XM_006711495.1:c.1295C>A, NM_004600.5:c.1229C>A, XM_006711496.4:c.1295C>A, XM_006711496.3:c.1295C>A, XM_006711496.2:c.1295C>A, XM_006711496.1:c.1295C>A, XM_006711497.4:c.1229C>A, XM_006711497.3:c.1229C>A, XM_006711497.2:c.1229C>A, XM_006711497.1:c.1229C>A, XM_017002181.3:c.1229C>A, XM_017002181.2:c.1229C>A, XM_017002181.1:c.1229C>A, XM_011509922.3:c.404C>A, XM_011509922.2:c.404C>A, XM_011509922.1:c.404C>A, XM_017002180.2:c.1295C>A, XM_017002180.1:c.1295C>A, NM_001173524.2:c.1229C>A, NM_001173524.1:c.1229C>A, XM_017002182.2:c.1229C>A, XM_017002182.1:c.1229C>A, NM_001331020.2:c.404C>A, NM_001331020.1:c.404C>A, XM_017002183.2:c.404C>A, XM_017002183.1:c.404C>A, NM_001042370.2:c.1229C>A, NM_001042369.2:c.1229C>A, XM_047428924.1:c.1229C>A, XM_047428920.1:c.1295C>A, NR_033393.1:n.1004C>A, NM_001173525.1:c.1229C>A, XP_006711558.1:p.Ser432Tyr, NP_004591.2:p.Ser410Tyr, XP_006711559.1:p.Ser432Tyr, XP_006711560.1:p.Ser410Tyr, XP_016857670.1:p.Ser410Tyr, XP_011508224.1:p.Ser135Tyr, XP_016857669.1:p.Ser432Tyr, NP_001166995.1:p.Ser410Tyr, XP_016857671.1:p.Ser410Tyr, NP_001317949.1:p.Ser135Tyr, XP_016857672.1:p.Ser135Tyr, NP_001035829.2:p.Ser410Tyr, NP_001035828.1:p.Ser410Tyr, XP_047284880.1:p.Ser410Tyr, XP_047284876.1:p.Ser432Tyr, NP_001166996.1:p.Ser410Tyr

      3.

      rs1488543693 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:193091745 (GRCh38)
        1:193060875 (GRCh37)
        Canonical SPDI:
        NC_000001.11:193091744:T:C
        Gene:
        RO60 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:

        4.

        rs1484040643 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          1:193060121 (GRCh38)
          1:193029251 (GRCh37)
          Canonical SPDI:
          NC_000001.11:193060120:T:A,NC_000001.11:193060120:T:C
          Gene:
          RO60 (Varview), UCHL5 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.193060121T>A, NC_000001.11:g.193060121T>C, NC_000001.10:g.193029251T>A, NC_000001.10:g.193029251T>C, NM_004600.5:c.-123T>A, NM_004600.5:c.-123T>C, XM_006711496.4:c.-123T>A, XM_006711496.4:c.-123T>C, XM_006711496.3:c.-123T>A, XM_006711496.3:c.-123T>C, XM_006711496.2:c.-123T>A, XM_006711496.2:c.-123T>C, XM_006711496.1:c.-123T>A, XM_006711496.1:c.-123T>C, XM_006711497.4:c.-123T>A, XM_006711497.4:c.-123T>C, XM_006711497.3:c.-123T>A, XM_006711497.3:c.-123T>C, XM_006711497.2:c.-123T>A, XM_006711497.2:c.-123T>C, XM_006711497.1:c.-123T>A, XM_006711497.1:c.-123T>C, XM_017002181.3:c.-123T>A, XM_017002181.3:c.-123T>C, XM_017002181.2:c.-123T>A, XM_017002181.2:c.-123T>C, XM_017002181.1:c.-123T>A, XM_017002181.1:c.-123T>C, XM_011509922.3:c.-347T>A, XM_011509922.3:c.-347T>C, XM_011509922.2:c.-347T>A, XM_011509922.2:c.-347T>C, XM_011509922.1:c.-347T>A, XM_011509922.1:c.-347T>C, NM_001042370.2:c.-123T>A, NM_001042370.2:c.-123T>C, NM_001042369.2:c.-123T>A, NM_001042369.2:c.-123T>C, XM_047428924.1:c.-2227T>A, XM_047428924.1:c.-2227T>C, XM_047428920.1:c.-123T>A, XM_047428920.1:c.-123T>C, NM_001173525.1:c.-123T>A, NM_001173525.1:c.-123T>C

          5.

          rs1483393465 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:193069274 (GRCh38)
            1:193038404 (GRCh37)
            Canonical SPDI:
            NC_000001.11:193069273:A:G
            Gene:
            RO60 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.193069274A>G, NC_000001.10:g.193038404A>G, XM_006711495.5:c.220A>G, XM_006711495.4:c.220A>G, XM_006711495.3:c.220A>G, XM_006711495.2:c.220A>G, XM_006711495.1:c.220A>G, NM_004600.5:c.220A>G, XM_006711496.4:c.220A>G, XM_006711496.3:c.220A>G, XM_006711496.2:c.220A>G, XM_006711496.1:c.220A>G, XM_006711497.4:c.220A>G, XM_006711497.3:c.220A>G, XM_006711497.2:c.220A>G, XM_006711497.1:c.220A>G, XM_017002181.3:c.220A>G, XM_017002181.2:c.220A>G, XM_017002181.1:c.220A>G, XM_017002180.2:c.220A>G, XM_017002180.1:c.220A>G, NM_001173524.2:c.220A>G, NM_001173524.1:c.220A>G, XM_017002182.2:c.220A>G, XM_017002182.1:c.220A>G, NM_001042370.2:c.220A>G, NM_001042369.2:c.220A>G, XM_047428924.1:c.220A>G, XM_047428920.1:c.220A>G, NM_001173525.1:c.220A>G, XP_006711558.1:p.Ile74Val, NP_004591.2:p.Ile74Val, XP_006711559.1:p.Ile74Val, XP_006711560.1:p.Ile74Val, XP_016857670.1:p.Ile74Val, XP_016857669.1:p.Ile74Val, NP_001166995.1:p.Ile74Val, XP_016857671.1:p.Ile74Val, NP_001035829.2:p.Ile74Val, NP_001035828.1:p.Ile74Val, XP_047284880.1:p.Ile74Val, XP_047284876.1:p.Ile74Val, NP_001166996.1:p.Ile74Val

            6.

            rs1482916501 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              1:193076646 (GRCh38)
              1:193045776 (GRCh37)
              Canonical SPDI:
              NC_000001.11:193076645:A:C
              Gene:
              RO60 (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:
              NC_000001.11:g.193076646A>C, NC_000001.10:g.193045776A>C, XM_006711495.5:c.1013A>C, XM_006711495.4:c.1013A>C, XM_006711495.3:c.1013A>C, XM_006711495.2:c.1013A>C, XM_006711495.1:c.1013A>C, NM_004600.5:c.947A>C, XM_006711496.4:c.1013A>C, XM_006711496.3:c.1013A>C, XM_006711496.2:c.1013A>C, XM_006711496.1:c.1013A>C, XM_006711497.4:c.947A>C, XM_006711497.3:c.947A>C, XM_006711497.2:c.947A>C, XM_006711497.1:c.947A>C, XM_017002181.3:c.947A>C, XM_017002181.2:c.947A>C, XM_017002181.1:c.947A>C, XM_011509922.3:c.122A>C, XM_011509922.2:c.122A>C, XM_011509922.1:c.122A>C, XM_017002180.2:c.1013A>C, XM_017002180.1:c.1013A>C, NM_001173524.2:c.947A>C, NM_001173524.1:c.947A>C, XM_017002182.2:c.947A>C, XM_017002182.1:c.947A>C, NM_001331020.2:c.122A>C, NM_001331020.1:c.122A>C, XM_017002183.2:c.122A>C, XM_017002183.1:c.122A>C, NM_001042370.2:c.947A>C, NM_001042369.2:c.947A>C, XM_047428924.1:c.947A>C, XM_047428920.1:c.1013A>C, NR_033393.1:n.722A>C, NM_001173525.1:c.947A>C, XP_006711558.1:p.Lys338Thr, NP_004591.2:p.Lys316Thr, XP_006711559.1:p.Lys338Thr, XP_006711560.1:p.Lys316Thr, XP_016857670.1:p.Lys316Thr, XP_011508224.1:p.Lys41Thr, XP_016857669.1:p.Lys338Thr, NP_001166995.1:p.Lys316Thr, XP_016857671.1:p.Lys316Thr, NP_001317949.1:p.Lys41Thr, XP_016857672.1:p.Lys41Thr, NP_001035829.2:p.Lys316Thr, NP_001035828.1:p.Lys316Thr, XP_047284880.1:p.Lys316Thr, XP_047284876.1:p.Lys338Thr, NP_001166996.1:p.Lys316Thr

              7.

              rs1482826587 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                1:193069222 (GRCh38)
                1:193038352 (GRCh37)
                Canonical SPDI:
                NC_000001.11:193069221:A:C
                Gene:
                RO60 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.193069222A>C, NC_000001.10:g.193038352A>C, XM_006711495.5:c.168A>C, XM_006711495.4:c.168A>C, XM_006711495.3:c.168A>C, XM_006711495.2:c.168A>C, XM_006711495.1:c.168A>C, NM_004600.5:c.168A>C, XM_006711496.4:c.168A>C, XM_006711496.3:c.168A>C, XM_006711496.2:c.168A>C, XM_006711496.1:c.168A>C, XM_006711497.4:c.168A>C, XM_006711497.3:c.168A>C, XM_006711497.2:c.168A>C, XM_006711497.1:c.168A>C, XM_017002181.3:c.168A>C, XM_017002181.2:c.168A>C, XM_017002181.1:c.168A>C, XM_017002180.2:c.168A>C, XM_017002180.1:c.168A>C, NM_001173524.2:c.168A>C, NM_001173524.1:c.168A>C, XM_017002182.2:c.168A>C, XM_017002182.1:c.168A>C, NM_001042370.2:c.168A>C, NM_001042369.2:c.168A>C, XM_047428924.1:c.168A>C, XM_047428920.1:c.168A>C, NM_001173525.1:c.168A>C, XP_006711558.1:p.Glu56Asp, NP_004591.2:p.Glu56Asp, XP_006711559.1:p.Glu56Asp, XP_006711560.1:p.Glu56Asp, XP_016857670.1:p.Glu56Asp, XP_016857669.1:p.Glu56Asp, NP_001166995.1:p.Glu56Asp, XP_016857671.1:p.Glu56Asp, NP_001035829.2:p.Glu56Asp, NP_001035828.1:p.Glu56Asp, XP_047284880.1:p.Glu56Asp, XP_047284876.1:p.Glu56Asp, NP_001166996.1:p.Glu56Asp

                8.

                rs1482565930 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  1:193069465 (GRCh38)
                  1:193038595 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:193069464:A:G
                  Gene:
                  RO60 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1482429352 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    1:193059962 (GRCh38)
                    1:193029092 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:193059961:G:C
                    Gene:
                    RO60 (Varview), UCHL5 (Varview)
                    Functional Consequence:
                    missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.193059962G>C, NC_000001.10:g.193029092G>C, XM_006711370.5:c.37C>G, XM_006711370.4:c.37C>G, XM_006711370.3:c.37C>G, XM_006711370.2:c.13C>G, XM_006711370.1:c.37C>G, NM_004600.5:c.-282G>C, XM_006711496.4:c.-282G>C, XM_006711496.3:c.-282G>C, XM_006711496.2:c.-282G>C, XM_006711496.1:c.-282G>C, XM_006711497.4:c.-282G>C, XM_006711497.3:c.-282G>C, XM_006711497.2:c.-282G>C, XM_006711497.1:c.-282G>C, XM_017002181.3:c.-282G>C, XM_017002181.2:c.-282G>C, XM_017002181.1:c.-282G>C, XM_011509922.3:c.-506G>C, XM_011509922.2:c.-506G>C, XM_011509922.1:c.-506G>C, XM_017001438.2:c.-626C>G, NM_001350848.2:c.-626C>G, NM_001350848.1:c.-626C>G, NM_001350850.2:c.-626C>G, NM_001350850.1:c.-626C>G, NM_001350840.2:c.37C>G, NM_001350840.1:c.37C>G, NM_001350844.2:c.37C>G, NM_001350844.1:c.37C>G, NM_001350852.2:c.-626C>G, NM_001350852.1:c.-626C>G, NM_001042370.2:c.-282G>C, NM_001042369.2:c.-282G>C, NR_037607.2:n.115C>G, NR_037607.1:n.146C>G, XM_047428924.1:c.-2386G>C, XM_047428920.1:c.-282G>C, XM_047422329.1:c.37C>G, XM_047422353.1:c.37C>G, NM_001173525.1:c.-282G>C, XP_006711433.3:p.Arg13Gly, NP_001337769.1:p.Arg13Gly, NP_001337773.1:p.Arg13Gly, XP_047278285.1:p.Arg13Gly, XP_047278309.1:p.Arg13Gly

                    10.

                    rs1481374511 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:193082621 (GRCh38)
                      1:193051751 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:193082620:A:G
                      Gene:
                      RO60 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.193082621A>G, NC_000001.10:g.193051751A>G, XM_006711495.5:c.1443A>G, XM_006711495.4:c.1443A>G, XM_006711495.3:c.1443A>G, XM_006711495.2:c.1443A>G, XM_006711495.1:c.1443A>G, NM_004600.5:c.1377A>G, XM_006711496.4:c.1443A>G, XM_006711496.3:c.1443A>G, XM_006711496.2:c.1443A>G, XM_006711496.1:c.1443A>G, XM_006711497.4:c.1377A>G, XM_006711497.3:c.1377A>G, XM_006711497.2:c.1377A>G, XM_006711497.1:c.1377A>G, XM_017002181.3:c.1377A>G, XM_017002181.2:c.1377A>G, XM_017002181.1:c.1377A>G, XM_011509922.3:c.552A>G, XM_011509922.2:c.552A>G, XM_011509922.1:c.552A>G, XM_017002180.2:c.1443A>G, XM_017002180.1:c.1443A>G, NM_001173524.2:c.1377A>G, NM_001173524.1:c.1377A>G, XM_017002182.2:c.1377A>G, XM_017002182.1:c.1377A>G, NM_001331020.2:c.552A>G, NM_001331020.1:c.552A>G, XM_017002183.2:c.552A>G, XM_017002183.1:c.552A>G, NM_001042370.2:c.1377A>G, NM_001042369.2:c.1377A>G, XM_047428924.1:c.1377A>G, XM_047428920.1:c.1443A>G, NR_033393.1:n.1152A>G, NM_001173525.1:c.1377A>G

                      11.

                      rs1481252713 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:193060167 (GRCh38)
                        1:193029297 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:193060166:T:C
                        Gene:
                        RO60 (Varview), UCHL5 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000015/4 (TOPMED)
                        HGVS:

                        12.

                        rs1480894922 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TTCCTACCC [Show Flanks]
                          Chromosome:
                          1:193069415 (GRCh38)
                          1:193038546 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:193069415:TTCCTACCC:TTCCTACCCTTCCTACCC
                          Gene:
                          RO60 (Varview)
                          Functional Consequence:
                          inframe_insertion,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TTCCTACCCTTCCTACCC=0./0 (ALFA)
                          TTCCTACCC=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000001.11:g.193069416_193069424dup, NC_000001.10:g.193038546_193038554dup, XM_006711495.5:c.362_370dup, XM_006711495.4:c.362_370dup, XM_006711495.3:c.362_370dup, XM_006711495.2:c.362_370dup, XM_006711495.1:c.362_370dup, NM_004600.5:c.362_370dup, XM_006711496.4:c.362_370dup, XM_006711496.3:c.362_370dup, XM_006711496.2:c.362_370dup, XM_006711496.1:c.362_370dup, XM_006711497.4:c.362_370dup, XM_006711497.3:c.362_370dup, XM_006711497.2:c.362_370dup, XM_006711497.1:c.362_370dup, XM_017002181.3:c.362_370dup, XM_017002181.2:c.362_370dup, XM_017002181.1:c.362_370dup, XM_017002180.2:c.362_370dup, XM_017002180.1:c.362_370dup, NM_001173524.2:c.362_370dup, NM_001173524.1:c.362_370dup, XM_017002182.2:c.362_370dup, XM_017002182.1:c.362_370dup, NM_001042370.2:c.362_370dup, NM_001042369.2:c.362_370dup, XM_047428924.1:c.362_370dup, XM_047428920.1:c.362_370dup, NM_001173525.1:c.362_370dup, XP_006711558.1:p.His124_Leu125insLeuProThr, NP_004591.2:p.His124_Leu125insLeuProThr, XP_006711559.1:p.His124_Leu125insLeuProThr, XP_006711560.1:p.His124_Leu125insLeuProThr, XP_016857670.1:p.His124_Leu125insLeuProThr, XP_016857669.1:p.His124_Leu125insLeuProThr, NP_001166995.1:p.His124_Leu125insLeuProThr, XP_016857671.1:p.His124_Leu125insLeuProThr, NP_001035829.2:p.His124_Leu125insLeuProThr, NP_001035828.1:p.His124_Leu125insLeuProThr, XP_047284880.1:p.His124_Leu125insLeuProThr, XP_047284876.1:p.His124_Leu125insLeuProThr, NP_001166996.1:p.His124_Leu125insLeuProThr

                          13.

                          rs1480723906 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            1:193059988 (GRCh38)
                            1:193029118 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:193059987:G:A,NC_000001.11:193059987:G:T
                            Gene:
                            RO60 (Varview), UCHL5 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.193059988G>A, NC_000001.11:g.193059988G>T, NC_000001.10:g.193029118G>A, NC_000001.10:g.193029118G>T, XM_006711370.5:c.11C>T, XM_006711370.5:c.11C>A, XM_006711370.4:c.11C>T, XM_006711370.4:c.11C>A, XM_006711370.3:c.11C>T, XM_006711370.3:c.11C>A, XM_006711370.2:c.-14C>T, XM_006711370.2:c.-14C>A, XM_006711370.1:c.11C>T, XM_006711370.1:c.11C>A, NM_004600.5:c.-256G>A, NM_004600.5:c.-256G>T, XM_006711496.4:c.-256G>A, XM_006711496.4:c.-256G>T, XM_006711496.3:c.-256G>A, XM_006711496.3:c.-256G>T, XM_006711496.2:c.-256G>A, XM_006711496.2:c.-256G>T, XM_006711496.1:c.-256G>A, XM_006711496.1:c.-256G>T, XM_006711497.4:c.-256G>A, XM_006711497.4:c.-256G>T, XM_006711497.3:c.-256G>A, XM_006711497.3:c.-256G>T, XM_006711497.2:c.-256G>A, XM_006711497.2:c.-256G>T, XM_006711497.1:c.-256G>A, XM_006711497.1:c.-256G>T, XM_017002181.3:c.-256G>A, XM_017002181.3:c.-256G>T, XM_017002181.2:c.-256G>A, XM_017002181.2:c.-256G>T, XM_017002181.1:c.-256G>A, XM_017002181.1:c.-256G>T, XM_011509922.3:c.-480G>A, XM_011509922.3:c.-480G>T, XM_011509922.2:c.-480G>A, XM_011509922.2:c.-480G>T, XM_011509922.1:c.-480G>A, XM_011509922.1:c.-480G>T, XM_017001438.2:c.-652C>T, XM_017001438.2:c.-652C>A, NM_001350848.2:c.-652C>T, NM_001350848.2:c.-652C>A, NM_001350848.1:c.-652C>T, NM_001350848.1:c.-652C>A, NM_001350850.2:c.-652C>T, NM_001350850.2:c.-652C>A, NM_001350850.1:c.-652C>T, NM_001350850.1:c.-652C>A, NM_001350840.2:c.11C>T, NM_001350840.2:c.11C>A, NM_001350840.1:c.11C>T, NM_001350840.1:c.11C>A, NM_001350844.2:c.11C>T, NM_001350844.2:c.11C>A, NM_001350844.1:c.11C>T, NM_001350844.1:c.11C>A, NM_001350852.2:c.-652C>T, NM_001350852.2:c.-652C>A, NM_001350852.1:c.-652C>T, NM_001350852.1:c.-652C>A, NM_001042370.2:c.-256G>A, NM_001042370.2:c.-256G>T, NM_001042369.2:c.-256G>A, NM_001042369.2:c.-256G>T, NR_037607.2:n.89C>T, NR_037607.2:n.89C>A, NR_037607.1:n.120C>T, NR_037607.1:n.120C>A, XM_047428924.1:c.-2360G>A, XM_047428924.1:c.-2360G>T, XM_047428920.1:c.-256G>A, XM_047428920.1:c.-256G>T, XM_047422329.1:c.11C>T, XM_047422329.1:c.11C>A, XM_047422353.1:c.11C>T, XM_047422353.1:c.11C>A, NM_001173525.1:c.-256G>A, NM_001173525.1:c.-256G>T, XP_006711433.3:p.Pro4Leu, XP_006711433.3:p.Pro4Gln, NP_001337769.1:p.Pro4Leu, NP_001337769.1:p.Pro4Gln, NP_001337773.1:p.Pro4Leu, NP_001337773.1:p.Pro4Gln, XP_047278285.1:p.Pro4Leu, XP_047278285.1:p.Pro4Gln, XP_047278309.1:p.Pro4Leu, XP_047278309.1:p.Pro4Gln

                            14.

                            rs1476445097 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:193084669 (GRCh38)
                              1:193053799 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:193084668:A:G
                              Gene:
                              RO60 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.193084669A>G, NC_000001.10:g.193053799A>G, XM_006711495.5:c.1621A>G, XM_006711495.4:c.1621A>G, XM_006711495.3:c.1621A>G, XM_006711495.2:c.1621A>G, XM_006711495.1:c.1621A>G, NM_004600.5:c.1555A>G, XM_006711496.4:c.1621A>G, XM_006711496.3:c.1621A>G, XM_006711496.2:c.1621A>G, XM_006711496.1:c.1621A>G, XM_006711497.4:c.1555A>G, XM_006711497.3:c.1555A>G, XM_006711497.2:c.1555A>G, XM_006711497.1:c.1555A>G, XM_017002181.3:c.1555A>G, XM_017002181.2:c.1555A>G, XM_017002181.1:c.1555A>G, XM_011509922.3:c.730A>G, XM_011509922.2:c.730A>G, XM_011509922.1:c.730A>G, XM_017002180.2:c.1621A>G, XM_017002180.1:c.1621A>G, NM_001173524.2:c.1555A>G, NM_001173524.1:c.1555A>G, XM_017002182.2:c.1555A>G, XM_017002182.1:c.1555A>G, NM_001331020.2:c.730A>G, NM_001331020.1:c.730A>G, XM_017002183.2:c.730A>G, XM_017002183.1:c.730A>G, NM_001042370.2:c.1555A>G, XM_047428924.1:c.1555A>G, XM_047428920.1:c.1621A>G, NR_033393.1:n.1330A>G, XP_006711558.1:p.Met541Val, NP_004591.2:p.Met519Val, XP_006711559.1:p.Met541Val, XP_006711560.1:p.Met519Val, XP_016857670.1:p.Met519Val, XP_011508224.1:p.Met244Val, XP_016857669.1:p.Met541Val, NP_001166995.1:p.Met519Val, XP_016857671.1:p.Met519Val, NP_001317949.1:p.Met244Val, XP_016857672.1:p.Met244Val, NP_001035829.2:p.Met519Val, XP_047284880.1:p.Met519Val, XP_047284876.1:p.Met541Val

                              15.

                              rs1474634444 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:193075956 (GRCh38)
                                1:193045086 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:193075955:A:G
                                Gene:
                                RO60 (Varview)
                                Functional Consequence:
                                synonymous_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000015/4 (TOPMED)
                                G=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000001.11:g.193075956A>G, NC_000001.10:g.193045086A>G, XM_006711495.5:c.783A>G, XM_006711495.4:c.783A>G, XM_006711495.3:c.783A>G, XM_006711495.2:c.783A>G, XM_006711495.1:c.783A>G, NM_004600.5:c.717A>G, XM_006711496.4:c.783A>G, XM_006711496.3:c.783A>G, XM_006711496.2:c.783A>G, XM_006711496.1:c.783A>G, XM_006711497.4:c.717A>G, XM_006711497.3:c.717A>G, XM_006711497.2:c.717A>G, XM_006711497.1:c.717A>G, XM_017002181.3:c.717A>G, XM_017002181.2:c.717A>G, XM_017002181.1:c.717A>G, XM_011509922.3:c.-109A>G, XM_011509922.2:c.-109A>G, XM_011509922.1:c.-109A>G, XM_017002180.2:c.783A>G, XM_017002180.1:c.783A>G, NM_001173524.2:c.717A>G, NM_001173524.1:c.717A>G, XM_017002182.2:c.717A>G, XM_017002182.1:c.717A>G, NM_001331020.2:c.-109A>G, NM_001331020.1:c.-109A>G, NM_001042370.2:c.717A>G, NM_001042369.2:c.717A>G, XM_047428924.1:c.717A>G, XM_047428920.1:c.783A>G, NR_033393.1:n.492A>G, NM_001173525.1:c.717A>G

                                16.

                                rs1474497931 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  1:193081420 (GRCh38)
                                  1:193050550 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:193081419:G:T
                                  Gene:
                                  RO60 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.193081420G>T, NC_000001.10:g.193050550G>T, XM_006711495.5:c.1209G>T, XM_006711495.4:c.1209G>T, XM_006711495.3:c.1209G>T, XM_006711495.2:c.1209G>T, XM_006711495.1:c.1209G>T, NM_004600.5:c.1143G>T, XM_006711496.4:c.1209G>T, XM_006711496.3:c.1209G>T, XM_006711496.2:c.1209G>T, XM_006711496.1:c.1209G>T, XM_006711497.4:c.1143G>T, XM_006711497.3:c.1143G>T, XM_006711497.2:c.1143G>T, XM_006711497.1:c.1143G>T, XM_017002181.3:c.1143G>T, XM_017002181.2:c.1143G>T, XM_017002181.1:c.1143G>T, XM_011509922.3:c.318G>T, XM_011509922.2:c.318G>T, XM_011509922.1:c.318G>T, XM_017002180.2:c.1209G>T, XM_017002180.1:c.1209G>T, NM_001173524.2:c.1143G>T, NM_001173524.1:c.1143G>T, XM_017002182.2:c.1143G>T, XM_017002182.1:c.1143G>T, NM_001331020.2:c.318G>T, NM_001331020.1:c.318G>T, XM_017002183.2:c.318G>T, XM_017002183.1:c.318G>T, NM_001042370.2:c.1143G>T, NM_001042369.2:c.1143G>T, XM_047428924.1:c.1143G>T, XM_047428920.1:c.1209G>T, NR_033393.1:n.918G>T, NM_001173525.1:c.1143G>T, XP_006711558.1:p.Met403Ile, NP_004591.2:p.Met381Ile, XP_006711559.1:p.Met403Ile, XP_006711560.1:p.Met381Ile, XP_016857670.1:p.Met381Ile, XP_011508224.1:p.Met106Ile, XP_016857669.1:p.Met403Ile, NP_001166995.1:p.Met381Ile, XP_016857671.1:p.Met381Ile, NP_001317949.1:p.Met106Ile, XP_016857672.1:p.Met106Ile, NP_001035829.2:p.Met381Ile, NP_001035828.1:p.Met381Ile, XP_047284880.1:p.Met381Ile, XP_047284876.1:p.Met403Ile, NP_001166996.1:p.Met381Ile

                                  17.

                                  rs1474111302 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:193075825 (GRCh38)
                                    1:193044955 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:193075824:G:A
                                    Gene:
                                    RO60 (Varview)
                                    Functional Consequence:
                                    missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.193075825G>A, NC_000001.10:g.193044955G>A, XM_006711495.5:c.652G>A, XM_006711495.4:c.652G>A, XM_006711495.3:c.652G>A, XM_006711495.2:c.652G>A, XM_006711495.1:c.652G>A, NM_004600.5:c.586G>A, XM_006711496.4:c.652G>A, XM_006711496.3:c.652G>A, XM_006711496.2:c.652G>A, XM_006711496.1:c.652G>A, XM_006711497.4:c.586G>A, XM_006711497.3:c.586G>A, XM_006711497.2:c.586G>A, XM_006711497.1:c.586G>A, XM_017002181.3:c.586G>A, XM_017002181.2:c.586G>A, XM_017002181.1:c.586G>A, XM_011509922.3:c.-240G>A, XM_011509922.2:c.-240G>A, XM_011509922.1:c.-240G>A, XM_017002180.2:c.652G>A, XM_017002180.1:c.652G>A, NM_001173524.2:c.586G>A, NM_001173524.1:c.586G>A, XM_017002182.2:c.586G>A, XM_017002182.1:c.586G>A, NM_001331020.2:c.-240G>A, NM_001331020.1:c.-240G>A, NM_001042370.2:c.586G>A, NM_001042369.2:c.586G>A, XM_047428924.1:c.586G>A, XM_047428920.1:c.652G>A, NR_033393.1:n.361G>A, NM_001173525.1:c.586G>A, XP_006711558.1:p.Ala218Thr, NP_004591.2:p.Ala196Thr, XP_006711559.1:p.Ala218Thr, XP_006711560.1:p.Ala196Thr, XP_016857670.1:p.Ala196Thr, XP_016857669.1:p.Ala218Thr, NP_001166995.1:p.Ala196Thr, XP_016857671.1:p.Ala196Thr, NP_001035829.2:p.Ala196Thr, NP_001035828.1:p.Ala196Thr, XP_047284880.1:p.Ala196Thr, XP_047284876.1:p.Ala218Thr, NP_001166996.1:p.Ala196Thr

                                    18.

                                    rs1473197029 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:193076017 (GRCh38)
                                      1:193045147 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:193076016:A:G
                                      Gene:
                                      RO60 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.193076017A>G, NC_000001.10:g.193045147A>G, XM_006711495.5:c.844A>G, XM_006711495.4:c.844A>G, XM_006711495.3:c.844A>G, XM_006711495.2:c.844A>G, XM_006711495.1:c.844A>G, NM_004600.5:c.778A>G, XM_006711496.4:c.844A>G, XM_006711496.3:c.844A>G, XM_006711496.2:c.844A>G, XM_006711496.1:c.844A>G, XM_006711497.4:c.778A>G, XM_006711497.3:c.778A>G, XM_006711497.2:c.778A>G, XM_006711497.1:c.778A>G, XM_017002181.3:c.778A>G, XM_017002181.2:c.778A>G, XM_017002181.1:c.778A>G, XM_011509922.3:c.-48A>G, XM_011509922.2:c.-48A>G, XM_011509922.1:c.-48A>G, XM_017002180.2:c.844A>G, XM_017002180.1:c.844A>G, NM_001173524.2:c.778A>G, NM_001173524.1:c.778A>G, XM_017002182.2:c.778A>G, XM_017002182.1:c.778A>G, NM_001331020.2:c.-48A>G, NM_001331020.1:c.-48A>G, NM_001042370.2:c.778A>G, NM_001042369.2:c.778A>G, XM_047428924.1:c.778A>G, XM_047428920.1:c.844A>G, NR_033393.1:n.553A>G, NM_001173525.1:c.778A>G, XP_006711558.1:p.Thr282Ala, NP_004591.2:p.Thr260Ala, XP_006711559.1:p.Thr282Ala, XP_006711560.1:p.Thr260Ala, XP_016857670.1:p.Thr260Ala, XP_016857669.1:p.Thr282Ala, NP_001166995.1:p.Thr260Ala, XP_016857671.1:p.Thr260Ala, NP_001035829.2:p.Thr260Ala, NP_001035828.1:p.Thr260Ala, XP_047284880.1:p.Thr260Ala, XP_047284876.1:p.Thr282Ala, NP_001166996.1:p.Thr260Ala

                                      19.

                                      rs1472981316 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->TATTATTTTATACTCCCTT [Show Flanks]
                                        Chromosome:
                                        1:193069180 (GRCh38)
                                        1:193038311 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:193069180::TATTATTTTATACTCCCTT
                                        Gene:
                                        RO60 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant,intron_variant
                                        HGVS:
                                        NC_000001.11:g.193069180_193069181insTATTATTTTATACTCCCTT, NC_000001.10:g.193038310_193038311insTATTATTTTATACTCCCTT, XM_006711495.5:c.126_127insTATTATTTTATACTCCCTT, XM_006711495.4:c.126_127insTATTATTTTATACTCCCTT, XM_006711495.3:c.126_127insTATTATTTTATACTCCCTT, XM_006711495.2:c.126_127insTATTATTTTATACTCCCTT, XM_006711495.1:c.126_127insTATTATTTTATACTCCCTT, NM_004600.5:c.126_127insTATTATTTTATACTCCCTT, XM_006711496.4:c.126_127insTATTATTTTATACTCCCTT, XM_006711496.3:c.126_127insTATTATTTTATACTCCCTT, XM_006711496.2:c.126_127insTATTATTTTATACTCCCTT, XM_006711496.1:c.126_127insTATTATTTTATACTCCCTT, XM_006711497.4:c.126_127insTATTATTTTATACTCCCTT, XM_006711497.3:c.126_127insTATTATTTTATACTCCCTT, XM_006711497.2:c.126_127insTATTATTTTATACTCCCTT, XM_006711497.1:c.126_127insTATTATTTTATACTCCCTT, XM_017002181.3:c.126_127insTATTATTTTATACTCCCTT, XM_017002181.2:c.126_127insTATTATTTTATACTCCCTT, XM_017002181.1:c.126_127insTATTATTTTATACTCCCTT, XM_017002180.2:c.126_127insTATTATTTTATACTCCCTT, XM_017002180.1:c.126_127insTATTATTTTATACTCCCTT, NM_001173524.2:c.126_127insTATTATTTTATACTCCCTT, NM_001173524.1:c.126_127insTATTATTTTATACTCCCTT, XM_017002182.2:c.126_127insTATTATTTTATACTCCCTT, XM_017002182.1:c.126_127insTATTATTTTATACTCCCTT, NM_001042370.2:c.126_127insTATTATTTTATACTCCCTT, NM_001042369.2:c.126_127insTATTATTTTATACTCCCTT, XM_047428924.1:c.126_127insTATTATTTTATACTCCCTT, XM_047428920.1:c.126_127insTATTATTTTATACTCCCTT, NM_001173525.1:c.126_127insTATTATTTTATACTCCCTT, XP_006711558.1:p.Gly43fs, NP_004591.2:p.Gly43fs, XP_006711559.1:p.Gly43fs, XP_006711560.1:p.Gly43fs, XP_016857670.1:p.Gly43fs, XP_016857669.1:p.Gly43fs, NP_001166995.1:p.Gly43fs, XP_016857671.1:p.Gly43fs, NP_001035829.2:p.Gly43fs, NP_001035828.1:p.Gly43fs, XP_047284880.1:p.Gly43fs, XP_047284876.1:p.Gly43fs, NP_001166996.1:p.Gly43fs

                                        20.

                                        rs1472819155 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:193069578 (GRCh38)
                                          1:193038708 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:193069577:A:G
                                          Gene:
                                          RO60 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000071/1 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.193069578A>G, NC_000001.10:g.193038708A>G, XM_006711495.5:c.524A>G, XM_006711495.4:c.524A>G, XM_006711495.3:c.524A>G, XM_006711495.2:c.524A>G, XM_006711495.1:c.524A>G, NM_004600.5:c.524A>G, XM_006711496.4:c.524A>G, XM_006711496.3:c.524A>G, XM_006711496.2:c.524A>G, XM_006711496.1:c.524A>G, XM_006711497.4:c.524A>G, XM_006711497.3:c.524A>G, XM_006711497.2:c.524A>G, XM_006711497.1:c.524A>G, XM_017002181.3:c.524A>G, XM_017002181.2:c.524A>G, XM_017002181.1:c.524A>G, XM_017002180.2:c.524A>G, XM_017002180.1:c.524A>G, NM_001173524.2:c.524A>G, NM_001173524.1:c.524A>G, XM_017002182.2:c.524A>G, XM_017002182.1:c.524A>G, NM_001042370.2:c.524A>G, NM_001042369.2:c.524A>G, XM_047428924.1:c.524A>G, XM_047428920.1:c.524A>G, NM_001173525.1:c.524A>G, XP_006711558.1:p.Asn175Ser, NP_004591.2:p.Asn175Ser, XP_006711559.1:p.Asn175Ser, XP_006711560.1:p.Asn175Ser, XP_016857670.1:p.Asn175Ser, XP_016857669.1:p.Asn175Ser, NP_001166995.1:p.Asn175Ser, XP_016857671.1:p.Asn175Ser, NP_001035829.2:p.Asn175Ser, NP_001035828.1:p.Asn175Ser, XP_047284880.1:p.Asn175Ser, XP_047284876.1:p.Asn175Ser, NP_001166996.1:p.Asn175Ser

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