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Items: 1 to 20 of 669

1.

rs1491166860 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    13:114291744 (GRCh38)
    13:115057220 (GRCh37)
    Canonical SPDI:
    NC_000013.11:114291744:G:GG
    Gene:
    UPF3A (Varview), LOC124903222 (Varview)
    Functional Consequence:
    frameshift_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
    HGVS:
    NC_000013.11:g.114291745dup, NC_000013.10:g.115057220dup, NG_029528.1:g.15162dup, NM_023011.4:c.799dup, NM_023011.3:c.799dup, NM_080687.3:c.700dup, NM_080687.2:c.700dup, NM_001353648.2:c.196dup, NM_001353648.1:c.196dup, NM_001353644.2:c.196dup, NM_001353644.1:c.196dup, NR_148482.2:n.782dup, NR_148482.1:n.799dup, NR_148485.2:n.632dup, NR_148485.1:n.649dup, NM_001353645.1:c.196dup, NM_001353650.1:c.196dup, NM_001353647.1:c.196dup, NR_148491.1:n.646dup, NM_001353646.1:c.196dup, NM_001353649.1:c.196dup, NR_148486.1:n.580dup, NR_148487.1:n.702dup, NR_148492.1:n.679dup, NR_148489.1:n.603dup, NR_148493.1:n.440dup, NR_148496.1:n.580dup, NR_148490.1:n.473dup, NR_148494.1:n.547dup, XM_011534845.3:c.409dup, XM_011534845.2:c.409dup, XM_011534845.1:c.409dup, XM_011534844.2:c.589dup, XM_011534844.1:c.589dup, XM_024449401.2:c.196dup, XM_024449401.1:c.196dup, XM_011534846.2:c.799dup, XM_011534846.1:c.799dup, XM_024449402.2:c.776dup, XM_024449402.1:c.776dup, XM_024449403.2:c.*112dup, XM_047430548.1:c.196dup, XM_047430546.1:c.799dup, XM_047430549.1:c.700dup, NP_075387.1:p.Glu267fs, NP_542418.1:p.Glu234fs, NP_001340577.1:p.Glu66fs, NP_001340573.1:p.Glu66fs, NP_001340574.1:p.Glu66fs, NP_001340579.1:p.Glu66fs, NP_001340576.1:p.Glu66fs, NP_001340575.1:p.Glu66fs, NP_001340578.1:p.Glu66fs, XP_011533147.1:p.Glu137fs, XP_011533146.1:p.Glu197fs, XP_024305169.1:p.Glu66fs, XP_011533148.1:p.Glu267fs, XP_024305170.1:p.Asp260fs, XP_047286504.1:p.Glu66fs, XP_047286502.1:p.Glu267fs, XP_047286505.1:p.Glu234fs

    2.

    rs1490603138 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      13:114291734 (GRCh38)
      13:115057209 (GRCh37)
      Canonical SPDI:
      NC_000013.11:114291733:G:A
      Gene:
      UPF3A (Varview), LOC124903222 (Varview)
      Functional Consequence:
      intron_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.0011/10 (ALFA)
      HGVS:
      NC_000013.11:g.114291734G>A, NC_000013.10:g.115057209G>A, NG_029528.1:g.15151G>A, NM_023011.4:c.788G>A, NM_023011.3:c.788G>A, NM_080687.3:c.689G>A, NM_080687.2:c.689G>A, NM_001353648.2:c.185G>A, NM_001353648.1:c.185G>A, NM_001353644.2:c.185G>A, NM_001353644.1:c.185G>A, NR_148482.2:n.771G>A, NR_148482.1:n.788G>A, NR_148485.2:n.621G>A, NR_148485.1:n.638G>A, NM_001353645.1:c.185G>A, NM_001353650.1:c.185G>A, NM_001353647.1:c.185G>A, NR_148491.1:n.635G>A, NM_001353646.1:c.185G>A, NM_001353649.1:c.185G>A, NR_148486.1:n.569G>A, NR_148487.1:n.691G>A, NR_148492.1:n.668G>A, NR_148489.1:n.592G>A, NR_148493.1:n.429G>A, NR_148496.1:n.569G>A, NR_148490.1:n.462G>A, NR_148494.1:n.536G>A, XM_011534845.3:c.398G>A, XM_011534845.2:c.398G>A, XM_011534845.1:c.398G>A, XM_011534844.2:c.578G>A, XM_011534844.1:c.578G>A, XM_024449401.2:c.185G>A, XM_024449401.1:c.185G>A, XM_011534846.2:c.788G>A, XM_011534846.1:c.788G>A, XM_024449402.2:c.765G>A, XM_024449402.1:c.765G>A, XM_024449403.2:c.*101G>A, XM_047430548.1:c.185G>A, XM_047430546.1:c.788G>A, XM_047430549.1:c.689G>A, NP_075387.1:p.Cys263Tyr, NP_542418.1:p.Cys230Tyr, NP_001340577.1:p.Cys62Tyr, NP_001340573.1:p.Cys62Tyr, NP_001340574.1:p.Cys62Tyr, NP_001340579.1:p.Cys62Tyr, NP_001340576.1:p.Cys62Tyr, NP_001340575.1:p.Cys62Tyr, NP_001340578.1:p.Cys62Tyr, XP_011533147.1:p.Cys133Tyr, XP_011533146.1:p.Cys193Tyr, XP_024305169.1:p.Cys62Tyr, XP_011533148.1:p.Cys263Tyr, XP_024305170.1:p.Met255Ile, XP_047286504.1:p.Cys62Tyr, XP_047286502.1:p.Cys263Tyr, XP_047286505.1:p.Cys230Tyr

      3.

      rs1489391938 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>- [Show Flanks]
        Chromosome:
        13:114291790 (GRCh38)
        13:115057265 (GRCh37)
        Canonical SPDI:
        NC_000013.11:114291789:AA:A
        Gene:
        UPF3A (Varview), LOC124903222 (Varview)
        Functional Consequence:
        frameshift_variant,intron_variant,coding_sequence_variant,downstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        -=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000013.11:g.114291791del, NC_000013.10:g.115057266del, NG_029528.1:g.15208del, NM_023011.4:c.845del, NM_023011.3:c.845del, NM_080687.3:c.746del, NM_080687.2:c.746del, NM_001353648.2:c.242del, NM_001353648.1:c.242del, NM_001353644.2:c.242del, NM_001353644.1:c.242del, NR_148482.2:n.828del, NR_148482.1:n.845del, NR_148485.2:n.678del, NR_148485.1:n.695del, NM_001353645.1:c.242del, NM_001353647.1:c.242del, NR_148491.1:n.692del, NM_001353646.1:c.242del, NR_148486.1:n.626del, NR_148487.1:n.748del, NR_148492.1:n.725del, NR_148489.1:n.649del, NR_148493.1:n.486del, NR_148496.1:n.626del, NR_148490.1:n.519del, NR_148494.1:n.593del, XM_011534845.3:c.455del, XM_011534845.2:c.455del, XM_011534845.1:c.455del, XM_011534844.2:c.635del, XM_011534844.1:c.635del, XM_024449401.2:c.242del, XM_024449401.1:c.242del, XM_011534846.2:c.845del, XM_011534846.1:c.845del, XM_047430548.1:c.242del, XM_047430546.1:c.845del, XM_047430549.1:c.746del, NP_075387.1:p.Lys282fs, NP_542418.1:p.Lys249fs, NP_001340577.1:p.Lys81fs, NP_001340573.1:p.Lys81fs, NP_001340574.1:p.Lys81fs, NP_001340576.1:p.Lys81fs, NP_001340575.1:p.Lys81fs, XP_011533147.1:p.Lys152fs, XP_011533146.1:p.Lys212fs, XP_024305169.1:p.Lys81fs, XP_011533148.1:p.Lys282fs, XP_047286504.1:p.Lys81fs, XP_047286502.1:p.Lys282fs, XP_047286505.1:p.Lys249fs

        4.

        rs1488252112 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          13:114305566 (GRCh38)
          13:115071041 (GRCh37)
          Canonical SPDI:
          NC_000013.11:114305565:C:T
          Gene:
          UPF3A (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000042/11 (TOPMED)
          T=0.000064/9 (GnomAD)
          HGVS:
          NC_000013.11:g.114305566C>T, NC_000013.10:g.115071041C>T, NG_029528.1:g.28983C>T, NM_023011.4:c.*649C>T, NM_023011.3:c.*649C>T, NM_080687.3:c.*649C>T, NM_080687.2:c.*649C>T, NM_001353648.2:c.*649C>T, NM_001353648.1:c.*649C>T, NM_001353644.2:c.*649C>T, NM_001353644.1:c.*649C>T, NR_148482.2:n.1902C>T, NR_148482.1:n.1919C>T, NR_148485.2:n.1594C>T, NR_148485.1:n.1611C>T, NR_148484.2:n.1587C>T, NR_148484.1:n.1604C>T, NM_001353645.1:c.*649C>T, NM_001353650.1:c.*649C>T, NM_001353647.1:c.*649C>T, NR_148491.1:n.1927C>T, NM_001353646.1:c.*649C>T, NM_001353649.1:c.*649C>T, NR_148486.1:n.1861C>T, NR_148487.1:n.1822C>T, NR_148492.1:n.1799C>T, NR_148489.1:n.1723C>T, NR_148493.1:n.1721C>T, NR_148496.1:n.1700C>T, NR_148488.1:n.1669C>T, NR_148490.1:n.1593C>T, NR_148494.1:n.1509C>T, NR_148495.1:n.1397C>T, XM_011534845.3:c.*649C>T, XM_011534845.2:c.*649C>T, XM_011534845.1:c.*649C>T, XM_011534844.2:c.*649C>T, XM_011534844.1:c.*649C>T, XM_024449401.2:c.*649C>T, XM_024449401.1:c.*649C>T, XM_047430548.1:c.*649C>T

          5.

          rs1487779545 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            13:114305685 (GRCh38)
            13:115071160 (GRCh37)
            Canonical SPDI:
            NC_000013.11:114305684:C:G,NC_000013.11:114305684:C:T
            Gene:
            UPF3A (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000021/3 (GnomAD)
            G=0.000071/1 (TOMMO)
            HGVS:
            NC_000013.11:g.114305685C>G, NC_000013.11:g.114305685C>T, NC_000013.10:g.115071160C>G, NC_000013.10:g.115071160C>T, NG_029528.1:g.29102C>G, NG_029528.1:g.29102C>T, NM_023011.4:c.*768C>G, NM_023011.4:c.*768C>T, NM_023011.3:c.*768C>G, NM_023011.3:c.*768C>T, NM_080687.3:c.*768C>G, NM_080687.3:c.*768C>T, NM_080687.2:c.*768C>G, NM_080687.2:c.*768C>T, NM_001353648.2:c.*768C>G, NM_001353648.2:c.*768C>T, NM_001353648.1:c.*768C>G, NM_001353648.1:c.*768C>T, NM_001353644.2:c.*768C>G, NM_001353644.2:c.*768C>T, NM_001353644.1:c.*768C>G, NM_001353644.1:c.*768C>T, NR_148482.2:n.2021C>G, NR_148482.2:n.2021C>T, NR_148482.1:n.2038C>G, NR_148482.1:n.2038C>T, NR_148485.2:n.1713C>G, NR_148485.2:n.1713C>T, NR_148485.1:n.1730C>G, NR_148485.1:n.1730C>T, NR_148484.2:n.1706C>G, NR_148484.2:n.1706C>T, NR_148484.1:n.1723C>G, NR_148484.1:n.1723C>T, NM_001353645.1:c.*768C>G, NM_001353645.1:c.*768C>T, NM_001353650.1:c.*768C>G, NM_001353650.1:c.*768C>T, NM_001353647.1:c.*768C>G, NM_001353647.1:c.*768C>T, NR_148491.1:n.2046C>G, NR_148491.1:n.2046C>T, NM_001353646.1:c.*768C>G, NM_001353646.1:c.*768C>T, NM_001353649.1:c.*768C>G, NM_001353649.1:c.*768C>T, NR_148486.1:n.1980C>G, NR_148486.1:n.1980C>T, NR_148487.1:n.1941C>G, NR_148487.1:n.1941C>T, NR_148492.1:n.1918C>G, NR_148492.1:n.1918C>T, NR_148489.1:n.1842C>G, NR_148489.1:n.1842C>T, NR_148493.1:n.1840C>G, NR_148493.1:n.1840C>T, NR_148496.1:n.1819C>G, NR_148496.1:n.1819C>T, NR_148488.1:n.1788C>G, NR_148488.1:n.1788C>T, NR_148490.1:n.1712C>G, NR_148490.1:n.1712C>T, NR_148494.1:n.1628C>G, NR_148494.1:n.1628C>T, NR_148495.1:n.1516C>G, NR_148495.1:n.1516C>T, XM_011534845.3:c.*768C>G, XM_011534845.3:c.*768C>T, XM_011534845.2:c.*768C>G, XM_011534845.2:c.*768C>T, XM_011534845.1:c.*768C>G, XM_011534845.1:c.*768C>T, XM_011534844.2:c.*768C>G, XM_011534844.2:c.*768C>T, XM_011534844.1:c.*768C>G, XM_011534844.1:c.*768C>T, XM_024449401.2:c.*768C>G, XM_024449401.2:c.*768C>T, XM_024449401.1:c.*768C>G, XM_024449401.1:c.*768C>T, XM_047430548.1:c.*768C>G, XM_047430548.1:c.*768C>T

            6.

            rs1487406474 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              T>- [Show Flanks]
              Chromosome:
              13:114305420 (GRCh38)
              13:115070895 (GRCh37)
              Canonical SPDI:
              NC_000013.11:114305419:TTTT:TTT
              Gene:
              UPF3A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTT=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              NC_000013.11:g.114305423del, NC_000013.10:g.115070898del, NG_029528.1:g.28840del, NM_023011.4:c.*506del, NM_023011.3:c.*506del, NM_080687.3:c.*506del, NM_080687.2:c.*506del, NM_001353648.2:c.*506del, NM_001353648.1:c.*506del, NM_001353644.2:c.*506del, NM_001353644.1:c.*506del, NR_148482.2:n.1759del, NR_148482.1:n.1776del, NR_148485.2:n.1451del, NR_148485.1:n.1468del, NR_148484.2:n.1444del, NR_148484.1:n.1461del, NM_001353645.1:c.*506del, NM_001353650.1:c.*506del, NM_001353647.1:c.*506del, NR_148491.1:n.1784del, NM_001353646.1:c.*506del, NM_001353649.1:c.*506del, NR_148486.1:n.1718del, NR_148487.1:n.1679del, NR_148492.1:n.1656del, NR_148489.1:n.1580del, NR_148493.1:n.1578del, NR_148496.1:n.1557del, NR_148488.1:n.1526del, NR_148490.1:n.1450del, NR_148494.1:n.1366del, NR_148495.1:n.1254del, XM_011534845.3:c.*506del, XM_011534845.2:c.*506del, XM_011534845.1:c.*506del, XM_011534844.2:c.*506del, XM_011534844.1:c.*506del, XM_024449401.2:c.*506del, XM_024449401.1:c.*506del, XM_047430548.1:c.*506del

              7.

              rs1487322346 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                13:114291707 (GRCh38)
                13:115057182 (GRCh37)
                Canonical SPDI:
                NC_000013.11:114291706:A:G
                Gene:
                UPF3A (Varview), LOC124903222 (Varview)
                Functional Consequence:
                intron_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000013.11:g.114291707A>G, NC_000013.10:g.115057182A>G, NG_029528.1:g.15124A>G, NM_023011.4:c.761A>G, NM_023011.3:c.761A>G, NM_080687.3:c.662A>G, NM_080687.2:c.662A>G, NM_001353648.2:c.158A>G, NM_001353648.1:c.158A>G, NM_001353644.2:c.158A>G, NM_001353644.1:c.158A>G, NR_148482.2:n.744A>G, NR_148482.1:n.761A>G, NR_148485.2:n.594A>G, NR_148485.1:n.611A>G, NM_001353645.1:c.158A>G, NM_001353650.1:c.158A>G, NM_001353647.1:c.158A>G, NR_148491.1:n.608A>G, NM_001353646.1:c.158A>G, NM_001353649.1:c.158A>G, NR_148486.1:n.542A>G, NR_148487.1:n.664A>G, NR_148492.1:n.641A>G, NR_148489.1:n.565A>G, NR_148493.1:n.402A>G, NR_148496.1:n.542A>G, NR_148490.1:n.435A>G, NR_148494.1:n.509A>G, XM_011534845.3:c.371A>G, XM_011534845.2:c.371A>G, XM_011534845.1:c.371A>G, XM_011534844.2:c.551A>G, XM_011534844.1:c.551A>G, XM_024449401.2:c.158A>G, XM_024449401.1:c.158A>G, XM_011534846.2:c.761A>G, XM_011534846.1:c.761A>G, XM_024449402.2:c.738A>G, XM_024449402.1:c.738A>G, XM_024449403.2:c.*74A>G, XM_024449403.1:c.*74A>G, XM_047430548.1:c.158A>G, XM_047430546.1:c.761A>G, XM_047430549.1:c.662A>G, NP_075387.1:p.Lys254Arg, NP_542418.1:p.Lys221Arg, NP_001340577.1:p.Lys53Arg, NP_001340573.1:p.Lys53Arg, NP_001340574.1:p.Lys53Arg, NP_001340579.1:p.Lys53Arg, NP_001340576.1:p.Lys53Arg, NP_001340575.1:p.Lys53Arg, NP_001340578.1:p.Lys53Arg, XP_011533147.1:p.Lys124Arg, XP_011533146.1:p.Lys184Arg, XP_024305169.1:p.Lys53Arg, XP_011533148.1:p.Lys254Arg, XP_047286504.1:p.Lys53Arg, XP_047286502.1:p.Lys254Arg, XP_047286505.1:p.Lys221Arg

                8.

                rs1486867009 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  13:114301987 (GRCh38)
                  13:115067462 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:114301986:G:A,NC_000013.11:114301986:G:T
                  Gene:
                  UPF3A (Varview)
                  Functional Consequence:
                  intron_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000005/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000013.11:g.114301987G>A, NC_000013.11:g.114301987G>T, NC_000013.10:g.115067462G>A, NC_000013.10:g.115067462G>T, NG_029528.1:g.25404G>A, NG_029528.1:g.25404G>T, NM_023011.4:c.1264G>A, NM_023011.4:c.1264G>T, NM_023011.3:c.1264G>A, NM_023011.3:c.1264G>T, NM_080687.3:c.1165G>A, NM_080687.3:c.1165G>T, NM_080687.2:c.1165G>A, NM_080687.2:c.1165G>T, NM_001353648.2:c.661G>A, NM_001353648.2:c.661G>T, NM_001353648.1:c.661G>A, NM_001353648.1:c.661G>T, NM_001353644.2:c.661G>A, NM_001353644.2:c.661G>T, NM_001353644.1:c.661G>A, NM_001353644.1:c.661G>T, NR_148482.2:n.1086G>A, NR_148482.2:n.1086G>T, NR_148482.1:n.1103G>A, NR_148482.1:n.1103G>T, NR_148484.2:n.771G>A, NR_148484.2:n.771G>T, NR_148484.1:n.788G>A, NR_148484.1:n.788G>T, NM_001353645.1:c.661G>A, NM_001353645.1:c.661G>T, NM_001353650.1:c.649G>A, NM_001353650.1:c.649G>T, NM_001353647.1:c.661G>A, NM_001353647.1:c.661G>T, NR_148491.1:n.1111G>A, NR_148491.1:n.1111G>T, NM_001353646.1:c.661G>A, NM_001353646.1:c.661G>T, NM_001353649.1:c.649G>A, NM_001353649.1:c.649G>T, NR_148486.1:n.1045G>A, NR_148486.1:n.1045G>T, NR_148487.1:n.1006G>A, NR_148487.1:n.1006G>T, NR_148492.1:n.983G>A, NR_148492.1:n.983G>T, NR_148489.1:n.907G>A, NR_148489.1:n.907G>T, NR_148493.1:n.905G>A, NR_148493.1:n.905G>T, NR_148496.1:n.884G>A, NR_148496.1:n.884G>T, NR_148488.1:n.853G>A, NR_148488.1:n.853G>T, NR_148490.1:n.777G>A, NR_148490.1:n.777G>T, NR_148495.1:n.581G>A, NR_148495.1:n.581G>T, XM_011534845.3:c.874G>A, XM_011534845.3:c.874G>T, XM_011534845.2:c.874G>A, XM_011534845.2:c.874G>T, XM_011534845.1:c.874G>A, XM_011534845.1:c.874G>T, XM_011534844.2:c.1054G>A, XM_011534844.2:c.1054G>T, XM_011534844.1:c.1054G>A, XM_011534844.1:c.1054G>T, XM_024449401.2:c.661G>A, XM_024449401.2:c.661G>T, XM_024449401.1:c.661G>A, XM_024449401.1:c.661G>T, XM_047430548.1:c.661G>A, XM_047430548.1:c.661G>T, XM_047430546.1:c.*239G>A, XM_047430546.1:c.*239G>T, XM_047430549.1:c.*239G>A, XM_047430549.1:c.*239G>T, NP_075387.1:p.Asp422Asn, NP_075387.1:p.Asp422Tyr, NP_542418.1:p.Asp389Asn, NP_542418.1:p.Asp389Tyr, NP_001340577.1:p.Asp221Asn, NP_001340577.1:p.Asp221Tyr, NP_001340573.1:p.Asp221Asn, NP_001340573.1:p.Asp221Tyr, NP_001340574.1:p.Asp221Asn, NP_001340574.1:p.Asp221Tyr, NP_001340579.1:p.Asp217Asn, NP_001340579.1:p.Asp217Tyr, NP_001340576.1:p.Asp221Asn, NP_001340576.1:p.Asp221Tyr, NP_001340575.1:p.Asp221Asn, NP_001340575.1:p.Asp221Tyr, NP_001340578.1:p.Asp217Asn, NP_001340578.1:p.Asp217Tyr, XP_011533147.1:p.Asp292Asn, XP_011533147.1:p.Asp292Tyr, XP_011533146.1:p.Asp352Asn, XP_011533146.1:p.Asp352Tyr, XP_024305169.1:p.Asp221Asn, XP_024305169.1:p.Asp221Tyr, XP_047286504.1:p.Asp221Asn, XP_047286504.1:p.Asp221Tyr

                  9.

                  rs1484313948 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    13:114305291 (GRCh38)
                    13:115070766 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:114305290:C:A,NC_000013.11:114305290:C:T
                    Gene:
                    UPF3A (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    T=0.000156/1 (1000Genomes)
                    HGVS:
                    NC_000013.11:g.114305291C>A, NC_000013.11:g.114305291C>T, NC_000013.10:g.115070766C>A, NC_000013.10:g.115070766C>T, NG_029528.1:g.28708C>A, NG_029528.1:g.28708C>T, NM_023011.4:c.*374C>A, NM_023011.4:c.*374C>T, NM_023011.3:c.*374C>A, NM_023011.3:c.*374C>T, NM_080687.3:c.*374C>A, NM_080687.3:c.*374C>T, NM_080687.2:c.*374C>A, NM_080687.2:c.*374C>T, NM_001353648.2:c.*374C>A, NM_001353648.2:c.*374C>T, NM_001353648.1:c.*374C>A, NM_001353648.1:c.*374C>T, NM_001353644.2:c.*374C>A, NM_001353644.2:c.*374C>T, NM_001353644.1:c.*374C>A, NM_001353644.1:c.*374C>T, NR_148482.2:n.1627C>A, NR_148482.2:n.1627C>T, NR_148482.1:n.1644C>A, NR_148482.1:n.1644C>T, NR_148485.2:n.1319C>A, NR_148485.2:n.1319C>T, NR_148485.1:n.1336C>A, NR_148485.1:n.1336C>T, NR_148484.2:n.1312C>A, NR_148484.2:n.1312C>T, NR_148484.1:n.1329C>A, NR_148484.1:n.1329C>T, NM_001353645.1:c.*374C>A, NM_001353645.1:c.*374C>T, NM_001353650.1:c.*374C>A, NM_001353650.1:c.*374C>T, NM_001353647.1:c.*374C>A, NM_001353647.1:c.*374C>T, NR_148491.1:n.1652C>A, NR_148491.1:n.1652C>T, NM_001353646.1:c.*374C>A, NM_001353646.1:c.*374C>T, NM_001353649.1:c.*374C>A, NM_001353649.1:c.*374C>T, NR_148486.1:n.1586C>A, NR_148486.1:n.1586C>T, NR_148487.1:n.1547C>A, NR_148487.1:n.1547C>T, NR_148492.1:n.1524C>A, NR_148492.1:n.1524C>T, NR_148489.1:n.1448C>A, NR_148489.1:n.1448C>T, NR_148493.1:n.1446C>A, NR_148493.1:n.1446C>T, NR_148496.1:n.1425C>A, NR_148496.1:n.1425C>T, NR_148488.1:n.1394C>A, NR_148488.1:n.1394C>T, NR_148490.1:n.1318C>A, NR_148490.1:n.1318C>T, NR_148494.1:n.1234C>A, NR_148494.1:n.1234C>T, NR_148495.1:n.1122C>A, NR_148495.1:n.1122C>T, XM_011534845.3:c.*374C>A, XM_011534845.3:c.*374C>T, XM_011534845.2:c.*374C>A, XM_011534845.2:c.*374C>T, XM_011534845.1:c.*374C>A, XM_011534845.1:c.*374C>T, XM_011534844.2:c.*374C>A, XM_011534844.2:c.*374C>T, XM_011534844.1:c.*374C>A, XM_011534844.1:c.*374C>T, XM_024449401.2:c.*374C>A, XM_024449401.2:c.*374C>T, XM_024449401.1:c.*374C>A, XM_024449401.1:c.*374C>T, XM_047430548.1:c.*374C>A, XM_047430548.1:c.*374C>T

                    10.

                    rs1482255980 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      13:114305695 (GRCh38)
                      13:115071170 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:114305694:C:T
                      Gene:
                      UPF3A (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000013.11:g.114305695C>T, NC_000013.10:g.115071170C>T, NG_029528.1:g.29112C>T, NM_023011.4:c.*778C>T, NM_023011.3:c.*778C>T, NM_080687.3:c.*778C>T, NM_080687.2:c.*778C>T, NM_001353648.2:c.*778C>T, NM_001353648.1:c.*778C>T, NM_001353644.2:c.*778C>T, NM_001353644.1:c.*778C>T, NR_148482.2:n.2031C>T, NR_148482.1:n.2048C>T, NR_148485.2:n.1723C>T, NR_148485.1:n.1740C>T, NR_148484.2:n.1716C>T, NR_148484.1:n.1733C>T, NM_001353645.1:c.*778C>T, NM_001353650.1:c.*778C>T, NM_001353647.1:c.*778C>T, NR_148491.1:n.2056C>T, NM_001353646.1:c.*778C>T, NM_001353649.1:c.*778C>T, NR_148486.1:n.1990C>T, NR_148487.1:n.1951C>T, NR_148492.1:n.1928C>T, NR_148489.1:n.1852C>T, NR_148493.1:n.1850C>T, NR_148496.1:n.1829C>T, NR_148488.1:n.1798C>T, NR_148490.1:n.1722C>T, NR_148494.1:n.1638C>T, NR_148495.1:n.1526C>T, XM_011534845.3:c.*778C>T, XM_011534845.2:c.*778C>T, XM_011534845.1:c.*778C>T, XM_011534844.2:c.*778C>T, XM_011534844.1:c.*778C>T, XM_024449401.2:c.*778C>T, XM_024449401.1:c.*778C>T, XM_047430548.1:c.*778C>T

                      11.

                      rs1481451578 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        13:114305252 (GRCh38)
                        13:115070727 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:114305251:T:G
                        Gene:
                        UPF3A (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000322/45 (GnomAD)
                        HGVS:
                        NC_000013.11:g.114305252T>G, NC_000013.10:g.115070727T>G, NG_029528.1:g.28669T>G, NM_023011.4:c.*335T>G, NM_023011.3:c.*335T>G, NM_080687.3:c.*335T>G, NM_080687.2:c.*335T>G, NM_001353648.2:c.*335T>G, NM_001353648.1:c.*335T>G, NM_001353644.2:c.*335T>G, NM_001353644.1:c.*335T>G, NR_148482.2:n.1588T>G, NR_148482.1:n.1605T>G, NR_148485.2:n.1280T>G, NR_148485.1:n.1297T>G, NR_148484.2:n.1273T>G, NR_148484.1:n.1290T>G, NM_001353645.1:c.*335T>G, NM_001353650.1:c.*335T>G, NM_001353647.1:c.*335T>G, NR_148491.1:n.1613T>G, NM_001353646.1:c.*335T>G, NM_001353649.1:c.*335T>G, NR_148486.1:n.1547T>G, NR_148487.1:n.1508T>G, NR_148492.1:n.1485T>G, NR_148489.1:n.1409T>G, NR_148493.1:n.1407T>G, NR_148496.1:n.1386T>G, NR_148488.1:n.1355T>G, NR_148490.1:n.1279T>G, NR_148494.1:n.1195T>G, NR_148495.1:n.1083T>G, XM_011534845.3:c.*335T>G, XM_011534845.2:c.*335T>G, XM_011534845.1:c.*335T>G, XM_011534844.2:c.*335T>G, XM_011534844.1:c.*335T>G, XM_024449401.2:c.*335T>G, XM_024449401.1:c.*335T>G, XM_047430548.1:c.*335T>G

                        12.

                        rs1481104736 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          13:114304799 (GRCh38)
                          13:115070274 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:114304798:C:A
                          Gene:
                          UPF3A (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000111/1 (ALFA)
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.114304799C>A, NC_000013.10:g.115070274C>A, NG_029528.1:g.28216C>A, NM_023011.4:c.1313C>A, NM_023011.3:c.1313C>A, NM_080687.3:c.1214C>A, NM_080687.2:c.1214C>A, NM_001353648.2:c.710C>A, NM_001353648.1:c.710C>A, NM_001353644.2:c.710C>A, NM_001353644.1:c.710C>A, NR_148482.2:n.1135C>A, NR_148482.1:n.1152C>A, NR_148485.2:n.827C>A, NR_148485.1:n.844C>A, NR_148484.2:n.820C>A, NR_148484.1:n.837C>A, NM_001353645.1:c.710C>A, NM_001353650.1:c.698C>A, NM_001353647.1:c.710C>A, NR_148491.1:n.1160C>A, NM_001353646.1:c.710C>A, NM_001353649.1:c.698C>A, NR_148486.1:n.1094C>A, NR_148487.1:n.1055C>A, NR_148492.1:n.1032C>A, NR_148489.1:n.956C>A, NR_148493.1:n.954C>A, NR_148496.1:n.933C>A, NR_148488.1:n.902C>A, NR_148490.1:n.826C>A, NR_148494.1:n.742C>A, NR_148495.1:n.630C>A, XM_011534845.3:c.923C>A, XM_011534845.2:c.923C>A, XM_011534845.1:c.923C>A, XM_011534844.2:c.1103C>A, XM_011534844.1:c.1103C>A, XM_024449401.2:c.710C>A, XM_024449401.1:c.710C>A, XM_047430548.1:c.710C>A, NP_075387.1:p.Ala438Asp, NP_542418.1:p.Ala405Asp, NP_001340577.1:p.Ala237Asp, NP_001340573.1:p.Ala237Asp, NP_001340574.1:p.Ala237Asp, NP_001340579.1:p.Ala233Asp, NP_001340576.1:p.Ala237Asp, NP_001340575.1:p.Ala237Asp, NP_001340578.1:p.Ala233Asp, XP_011533147.1:p.Ala308Asp, XP_011533146.1:p.Ala368Asp, XP_024305169.1:p.Ala237Asp, XP_047286504.1:p.Ala237Asp

                          13.

                          rs1479235609 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,T [Show Flanks]
                            Chromosome:
                            13:114286600 (GRCh38)
                            13:115052075 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:114286599:A:C,NC_000013.11:114286599:A:T
                            Gene:
                            UPF3A (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000013.11:g.114286600A>C, NC_000013.11:g.114286600A>T, NC_000013.10:g.115052075A>C, NC_000013.10:g.115052075A>T, NG_029528.1:g.10017A>C, NG_029528.1:g.10017A>T, NM_023011.4:c.602A>C, NM_023011.4:c.602A>T, NM_023011.3:c.602A>C, NM_023011.3:c.602A>T, NM_080687.3:c.503A>C, NM_080687.3:c.503A>T, NM_080687.2:c.503A>C, NM_080687.2:c.503A>T, NM_001353648.2:c.-2A>C, NM_001353648.2:c.-2A>T, NM_001353648.1:c.-2A>C, NM_001353648.1:c.-2A>T, NM_001353644.2:c.-2A>C, NM_001353644.2:c.-2A>T, NM_001353644.1:c.-2A>C, NM_001353644.1:c.-2A>T, NR_148482.2:n.641A>C, NR_148482.2:n.641A>T, NR_148482.1:n.658A>C, NR_148482.1:n.658A>T, NR_148485.2:n.435A>C, NR_148485.2:n.435A>T, NR_148485.1:n.452A>C, NR_148485.1:n.452A>T, NM_001353652.2:c.602A>C, NM_001353652.2:c.602A>T, NM_001353652.1:c.602A>C, NM_001353652.1:c.602A>T, NR_148483.2:n.435A>C, NR_148483.2:n.435A>T, NR_148483.1:n.452A>C, NR_148483.1:n.452A>T, NM_001353651.2:c.503A>C, NM_001353651.2:c.503A>T, NM_001353651.1:c.503A>C, NM_001353651.1:c.503A>T, NM_001353645.1:c.-2A>C, NM_001353645.1:c.-2A>T, NM_001353650.1:c.-2A>C, NM_001353650.1:c.-2A>T, NM_001353647.1:c.-2A>C, NM_001353647.1:c.-2A>T, NR_148491.1:n.505A>C, NR_148491.1:n.505A>T, NM_001353646.1:c.-2A>C, NM_001353646.1:c.-2A>T, NM_001353649.1:c.-2A>C, NM_001353649.1:c.-2A>T, NR_148486.1:n.406A>C, NR_148486.1:n.406A>T, NR_148487.1:n.505A>C, NR_148487.1:n.505A>T, NR_148492.1:n.505A>C, NR_148492.1:n.505A>T, NR_148489.1:n.406A>C, NR_148489.1:n.406A>T, NR_148493.1:n.299A>C, NR_148493.1:n.299A>T, NR_148496.1:n.406A>C, NR_148496.1:n.406A>T, NR_148488.1:n.406A>C, NR_148488.1:n.406A>T, NR_148490.1:n.299A>C, NR_148490.1:n.299A>T, NR_148494.1:n.406A>C, NR_148494.1:n.406A>T, XM_011534845.3:c.212A>C, XM_011534845.3:c.212A>T, XM_011534845.2:c.212A>C, XM_011534845.2:c.212A>T, XM_011534845.1:c.212A>C, XM_011534845.1:c.212A>T, XM_024449401.2:c.-2A>C, XM_024449401.2:c.-2A>T, XM_024449401.1:c.-2A>C, XM_024449401.1:c.-2A>T, XM_011534846.2:c.602A>C, XM_011534846.2:c.602A>T, XM_011534846.1:c.602A>C, XM_011534846.1:c.602A>T, XM_024449402.2:c.602A>C, XM_024449402.2:c.602A>T, XM_024449402.1:c.602A>C, XM_024449402.1:c.602A>T, XM_024449403.2:c.602A>C, XM_024449403.2:c.602A>T, XM_024449403.1:c.602A>C, XM_024449403.1:c.602A>T, XM_047430548.1:c.-2A>C, XM_047430548.1:c.-2A>T, XM_047430546.1:c.602A>C, XM_047430546.1:c.602A>T, XM_047430547.1:c.602A>C, XM_047430547.1:c.602A>T, XM_047430549.1:c.503A>C, XM_047430549.1:c.503A>T, NP_075387.1:p.Glu201Ala, NP_075387.1:p.Glu201Val, NP_542418.1:p.Glu168Ala, NP_542418.1:p.Glu168Val, NP_001340581.1:p.Glu201Ala, NP_001340581.1:p.Glu201Val, NP_001340580.1:p.Glu168Ala, NP_001340580.1:p.Glu168Val, XP_011533147.1:p.Glu71Ala, XP_011533147.1:p.Glu71Val, XP_011533148.1:p.Glu201Ala, XP_011533148.1:p.Glu201Val, XP_024305170.1:p.Glu201Ala, XP_024305170.1:p.Glu201Val, XP_024305171.1:p.Glu201Ala, XP_024305171.1:p.Glu201Val, XP_047286502.1:p.Glu201Ala, XP_047286502.1:p.Glu201Val, XP_047286503.1:p.Glu201Ala, XP_047286503.1:p.Glu201Val, XP_047286505.1:p.Glu168Ala, XP_047286505.1:p.Glu168Val

                            14.

                            rs1478957221 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              13:114291740 (GRCh38)
                              13:115057215 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:114291739:A:C
                              Gene:
                              UPF3A (Varview), LOC124903222 (Varview)
                              Functional Consequence:
                              intron_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000013.11:g.114291740A>C, NC_000013.10:g.115057215A>C, NG_029528.1:g.15157A>C, NM_023011.4:c.794A>C, NM_023011.3:c.794A>C, NM_080687.3:c.695A>C, NM_080687.2:c.695A>C, NM_001353648.2:c.191A>C, NM_001353648.1:c.191A>C, NM_001353644.2:c.191A>C, NM_001353644.1:c.191A>C, NR_148482.2:n.777A>C, NR_148482.1:n.794A>C, NR_148485.2:n.627A>C, NR_148485.1:n.644A>C, NM_001353645.1:c.191A>C, NM_001353650.1:c.191A>C, NM_001353647.1:c.191A>C, NR_148491.1:n.641A>C, NM_001353646.1:c.191A>C, NM_001353649.1:c.191A>C, NR_148486.1:n.575A>C, NR_148487.1:n.697A>C, NR_148492.1:n.674A>C, NR_148489.1:n.598A>C, NR_148493.1:n.435A>C, NR_148496.1:n.575A>C, NR_148490.1:n.468A>C, NR_148494.1:n.542A>C, XM_011534845.3:c.404A>C, XM_011534845.2:c.404A>C, XM_011534845.1:c.404A>C, XM_011534844.2:c.584A>C, XM_011534844.1:c.584A>C, XM_024449401.2:c.191A>C, XM_024449401.1:c.191A>C, XM_011534846.2:c.794A>C, XM_011534846.1:c.794A>C, XM_024449402.2:c.771A>C, XM_024449402.1:c.771A>C, XM_024449403.2:c.*107A>C, XM_047430548.1:c.191A>C, XM_047430546.1:c.794A>C, XM_047430549.1:c.695A>C, NP_075387.1:p.Lys265Thr, NP_542418.1:p.Lys232Thr, NP_001340577.1:p.Lys64Thr, NP_001340573.1:p.Lys64Thr, NP_001340574.1:p.Lys64Thr, NP_001340579.1:p.Lys64Thr, NP_001340576.1:p.Lys64Thr, NP_001340575.1:p.Lys64Thr, NP_001340578.1:p.Lys64Thr, XP_011533147.1:p.Lys135Thr, XP_011533146.1:p.Lys195Thr, XP_024305169.1:p.Lys64Thr, XP_011533148.1:p.Lys265Thr, XP_024305170.1:p.Lys257Asn, XP_047286504.1:p.Lys64Thr, XP_047286502.1:p.Lys265Thr, XP_047286505.1:p.Lys232Thr

                              15.

                              rs1477770939 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                13:114305330 (GRCh38)
                                13:115070805 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:114305329:C:A,NC_000013.11:114305329:C:T
                                Gene:
                                UPF3A (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000034/9 (TOPMED)
                                HGVS:
                                NC_000013.11:g.114305330C>A, NC_000013.11:g.114305330C>T, NC_000013.10:g.115070805C>A, NC_000013.10:g.115070805C>T, NG_029528.1:g.28747C>A, NG_029528.1:g.28747C>T, NM_023011.4:c.*413C>A, NM_023011.4:c.*413C>T, NM_023011.3:c.*413C>A, NM_023011.3:c.*413C>T, NM_080687.3:c.*413C>A, NM_080687.3:c.*413C>T, NM_080687.2:c.*413C>A, NM_080687.2:c.*413C>T, NM_001353648.2:c.*413C>A, NM_001353648.2:c.*413C>T, NM_001353648.1:c.*413C>A, NM_001353648.1:c.*413C>T, NM_001353644.2:c.*413C>A, NM_001353644.2:c.*413C>T, NM_001353644.1:c.*413C>A, NM_001353644.1:c.*413C>T, NR_148482.2:n.1666C>A, NR_148482.2:n.1666C>T, NR_148482.1:n.1683C>A, NR_148482.1:n.1683C>T, NR_148485.2:n.1358C>A, NR_148485.2:n.1358C>T, NR_148485.1:n.1375C>A, NR_148485.1:n.1375C>T, NR_148484.2:n.1351C>A, NR_148484.2:n.1351C>T, NR_148484.1:n.1368C>A, NR_148484.1:n.1368C>T, NM_001353645.1:c.*413C>A, NM_001353645.1:c.*413C>T, NM_001353650.1:c.*413C>A, NM_001353650.1:c.*413C>T, NM_001353647.1:c.*413C>A, NM_001353647.1:c.*413C>T, NR_148491.1:n.1691C>A, NR_148491.1:n.1691C>T, NM_001353646.1:c.*413C>A, NM_001353646.1:c.*413C>T, NM_001353649.1:c.*413C>A, NM_001353649.1:c.*413C>T, NR_148486.1:n.1625C>A, NR_148486.1:n.1625C>T, NR_148487.1:n.1586C>A, NR_148487.1:n.1586C>T, NR_148492.1:n.1563C>A, NR_148492.1:n.1563C>T, NR_148489.1:n.1487C>A, NR_148489.1:n.1487C>T, NR_148493.1:n.1485C>A, NR_148493.1:n.1485C>T, NR_148496.1:n.1464C>A, NR_148496.1:n.1464C>T, NR_148488.1:n.1433C>A, NR_148488.1:n.1433C>T, NR_148490.1:n.1357C>A, NR_148490.1:n.1357C>T, NR_148494.1:n.1273C>A, NR_148494.1:n.1273C>T, NR_148495.1:n.1161C>A, NR_148495.1:n.1161C>T, XM_011534845.3:c.*413C>A, XM_011534845.3:c.*413C>T, XM_011534845.2:c.*413C>A, XM_011534845.2:c.*413C>T, XM_011534845.1:c.*413C>A, XM_011534845.1:c.*413C>T, XM_011534844.2:c.*413C>A, XM_011534844.2:c.*413C>T, XM_011534844.1:c.*413C>A, XM_011534844.1:c.*413C>T, XM_024449401.2:c.*413C>A, XM_024449401.2:c.*413C>T, XM_024449401.1:c.*413C>A, XM_024449401.1:c.*413C>T, XM_047430548.1:c.*413C>A, XM_047430548.1:c.*413C>T

                                16.

                                rs1477290558 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  13:114282117 (GRCh38)
                                  13:115047592 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:114282116:G:A
                                  Gene:
                                  UPF3A (Varview), LOC105370384 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                  HGVS:
                                  NC_000013.11:g.114282117G>A, NC_000013.10:g.115047592G>A, NG_029528.1:g.5534G>A, NM_023011.4:c.304G>A, NM_023011.3:c.304G>A, NM_080687.3:c.304G>A, NM_080687.2:c.304G>A, NR_148482.2:n.343G>A, NR_148482.1:n.360G>A, NR_148485.2:n.343G>A, NR_148485.1:n.360G>A, NM_001353652.2:c.304G>A, NM_001353652.1:c.304G>A, NR_148483.2:n.343G>A, NR_148483.1:n.360G>A, NM_001353651.2:c.304G>A, NM_001353651.1:c.304G>A, NM_001353645.1:c.-565G>A, NM_001353650.1:c.-565G>A, NM_001353647.1:c.-300G>A, NR_148491.1:n.207G>A, NM_001353646.1:c.-201G>A, NM_001353649.1:c.-201G>A, NR_148486.1:n.207G>A, NR_148487.1:n.207G>A, NR_148492.1:n.207G>A, NR_148489.1:n.207G>A, NR_148493.1:n.207G>A, NR_148496.1:n.207G>A, NR_148488.1:n.207G>A, NR_148490.1:n.207G>A, NR_148494.1:n.207G>A, NR_148495.1:n.207G>A, XM_011534844.2:c.304G>A, XM_011534844.1:c.304G>A, XM_011534846.2:c.304G>A, XM_011534846.1:c.304G>A, XM_024449402.2:c.304G>A, XM_024449402.1:c.304G>A, XM_024449403.2:c.304G>A, XM_024449403.1:c.304G>A, XM_047430546.1:c.304G>A, XM_047430547.1:c.304G>A, XM_047430549.1:c.304G>A, NP_075387.1:p.Ala102Thr, NP_542418.1:p.Ala102Thr, NP_001340581.1:p.Ala102Thr, NP_001340580.1:p.Ala102Thr, XP_011533146.1:p.Ala102Thr, XP_011533148.1:p.Ala102Thr, XP_024305170.1:p.Ala102Thr, XP_024305171.1:p.Ala102Thr, XP_047286502.1:p.Ala102Thr, XP_047286503.1:p.Ala102Thr, XP_047286505.1:p.Ala102Thr

                                  17.

                                  rs1473729814 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    13:114281998 (GRCh38)
                                    13:115047473 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:114281997:G:C
                                    Gene:
                                    UPF3A (Varview), LOC105370384 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1473321595 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      13:114281944 (GRCh38)
                                      13:115047419 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:114281943:C:G,NC_000013.11:114281943:C:T
                                      Gene:
                                      UPF3A (Varview), LOC105370384 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.00004/1 (TOMMO)
                                      HGVS:
                                      NC_000013.11:g.114281944C>G, NC_000013.11:g.114281944C>T, NC_000013.10:g.115047419C>G, NC_000013.10:g.115047419C>T, NG_029528.1:g.5361C>G, NG_029528.1:g.5361C>T, NM_001353645.1:c.-738C>G, NM_001353645.1:c.-738C>T, NM_001353650.1:c.-738C>G, NM_001353650.1:c.-738C>T, NM_001353647.1:c.-473C>G, NM_001353647.1:c.-473C>T, NR_148491.1:n.34C>G, NR_148491.1:n.34C>T, NM_001353646.1:c.-374C>G, NM_001353646.1:c.-374C>T, NM_001353649.1:c.-374C>G, NM_001353649.1:c.-374C>T, NR_148486.1:n.34C>G, NR_148486.1:n.34C>T, NR_148487.1:n.34C>G, NR_148487.1:n.34C>T, NR_148492.1:n.34C>G, NR_148492.1:n.34C>T, NR_148489.1:n.34C>G, NR_148489.1:n.34C>T, NR_148493.1:n.34C>G, NR_148493.1:n.34C>T, NR_148496.1:n.34C>G, NR_148496.1:n.34C>T, NR_148488.1:n.34C>G, NR_148488.1:n.34C>T, NR_148490.1:n.34C>G, NR_148490.1:n.34C>T, NR_148494.1:n.34C>G, NR_148494.1:n.34C>T, NR_148495.1:n.34C>G, NR_148495.1:n.34C>T

                                      19.

                                      rs1473042761 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        13:114305411 (GRCh38)
                                        13:115070886 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:114305410:C:T
                                        Gene:
                                        UPF3A (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000013.11:g.114305411C>T, NC_000013.10:g.115070886C>T, NG_029528.1:g.28828C>T, NM_023011.4:c.*494C>T, NM_023011.3:c.*494C>T, NM_080687.3:c.*494C>T, NM_080687.2:c.*494C>T, NM_001353648.2:c.*494C>T, NM_001353648.1:c.*494C>T, NM_001353644.2:c.*494C>T, NM_001353644.1:c.*494C>T, NR_148482.2:n.1747C>T, NR_148482.1:n.1764C>T, NR_148485.2:n.1439C>T, NR_148485.1:n.1456C>T, NR_148484.2:n.1432C>T, NR_148484.1:n.1449C>T, NM_001353645.1:c.*494C>T, NM_001353650.1:c.*494C>T, NM_001353647.1:c.*494C>T, NR_148491.1:n.1772C>T, NM_001353646.1:c.*494C>T, NM_001353649.1:c.*494C>T, NR_148486.1:n.1706C>T, NR_148487.1:n.1667C>T, NR_148492.1:n.1644C>T, NR_148489.1:n.1568C>T, NR_148493.1:n.1566C>T, NR_148496.1:n.1545C>T, NR_148488.1:n.1514C>T, NR_148490.1:n.1438C>T, NR_148494.1:n.1354C>T, NR_148495.1:n.1242C>T, XM_011534845.3:c.*494C>T, XM_011534845.2:c.*494C>T, XM_011534845.1:c.*494C>T, XM_011534844.2:c.*494C>T, XM_011534844.1:c.*494C>T, XM_024449401.2:c.*494C>T, XM_024449401.1:c.*494C>T, XM_047430548.1:c.*494C>T

                                        20.

                                        rs1472165330 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          GCACTGCGATTTTAACCATTTATTAAATAAAAATTTTG>- [Show Flanks]
                                          Chromosome:
                                          13:114305763 (GRCh38)
                                          13:115071238 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:114305757:TTTTGGCACTGCGATTTTAACCATTTATTAAATAAAAATTTTG:TTTTG
                                          Gene:
                                          UPF3A (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTG=0./0 (ALFA)
                                          -=0.000007/1 (GnomAD)
                                          -=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.114305763_114305800del, NC_000013.10:g.115071238_115071275del, NG_029528.1:g.29180_29217del, NM_023011.4:c.*846_*883del, NM_023011.3:c.*846_*883del, NM_080687.3:c.*846_*883del, NM_080687.2:c.*846_*883del, NM_001353648.2:c.*846_*883del, NM_001353648.1:c.*846_*883del, NM_001353644.2:c.*846_*883del, NM_001353644.1:c.*846_*883del, NR_148482.2:n.2099_2136del, NR_148482.1:n.2116_2153del, NR_148485.2:n.1791_1828del, NR_148485.1:n.1808_1845del, NR_148484.2:n.1784_1821del, NR_148484.1:n.1801_1838del, NM_001353645.1:c.*846_*883del, NM_001353650.1:c.*846_*883del, NM_001353647.1:c.*846_*883del, NR_148491.1:n.2124_2161del, NM_001353646.1:c.*846_*883del, NM_001353649.1:c.*846_*883del, NR_148486.1:n.2058_2095del, NR_148487.1:n.2019_2056del, NR_148492.1:n.1996_2033del, NR_148489.1:n.1920_1957del, NR_148493.1:n.1918_1955del, NR_148496.1:n.1897_1934del, NR_148488.1:n.1866_1903del, NR_148490.1:n.1790_1827del, NR_148494.1:n.1706_1743del, NR_148495.1:n.1594_1631del, XM_011534845.3:c.*846_*883del, XM_011534845.2:c.*846_*883del, XM_011534845.1:c.*846_*883del, XM_011534844.2:c.*846_*883del, XM_011534844.1:c.*846_*883del, XM_024449401.2:c.*846_*883del, XM_024449401.1:c.*846_*883del, XM_047430548.1:c.*846_*883del

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