U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 957

1.

rs1490792927 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    18:34223350 (GRCh38)
    18:31803314 (GRCh37)
    Canonical SPDI:
    NC_000018.10:34223349:G:A,NC_000018.10:34223349:G:T
    Gene:
    NOL4 (Varview)
    Functional Consequence:
    upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000018.10:g.34223350G>A, NC_000018.10:g.34223350G>T, NC_000018.9:g.31803314G>A, NC_000018.9:g.31803314G>T, NM_003787.5:c.-97C>T, NM_003787.5:c.-97C>A, NM_003787.4:c.-97C>T, NM_003787.4:c.-97C>A, XM_006722563.4:c.-97C>T, XM_006722563.4:c.-97C>A, XM_006722563.3:c.-97C>T, XM_006722563.3:c.-97C>A, XM_006722563.2:c.-97C>T, XM_006722563.2:c.-97C>A, XM_006722563.1:c.-97C>T, XM_006722563.1:c.-97C>A, XR_935261.4:n.1564C>T, XR_935261.4:n.1564C>A, XR_935261.3:n.76C>T, XR_935261.3:n.76C>A, XR_935261.2:n.1425C>T, XR_935261.2:n.1425C>A, XR_935261.1:n.924C>T, XR_935261.1:n.924C>A, XM_011526237.3:c.-97C>T, XM_011526237.3:c.-97C>A, XM_011526237.2:c.-97C>T, XM_011526237.2:c.-97C>A, XM_011526237.1:c.-97C>T, XM_011526237.1:c.-97C>A, NM_001384472.1:c.-1058C>T, NM_001384472.1:c.-1058C>A, NM_001384467.1:c.-97C>T, NM_001384467.1:c.-97C>A, NM_001384473.1:c.-1062C>T, NM_001384473.1:c.-1062C>A, NM_001384471.1:c.-672C>T, NM_001384471.1:c.-672C>A, NM_001384468.1:c.-97C>T, NM_001384468.1:c.-97C>A, NM_001384469.1:c.-97C>T, NM_001384469.1:c.-97C>A, XM_047437901.1:c.-97C>T, XM_047437901.1:c.-97C>A, XM_047437902.1:c.-97C>T, XM_047437902.1:c.-97C>A, NM_001353233.1:c.-1062C>T, NM_001353233.1:c.-1062C>A, NM_001353237.1:c.-603C>T, NM_001353237.1:c.-603C>A, NM_001353232.1:c.-97C>T, NM_001353232.1:c.-97C>A, NM_001198546.1:c.-97C>T, NM_001198546.1:c.-97C>A, NM_001198548.1:c.-97C>T, NM_001198548.1:c.-97C>A, XM_047437903.1:c.-97C>T, XM_047437903.1:c.-97C>A, XM_047437904.1:c.-97C>T, XM_047437904.1:c.-97C>A

    2.

    rs1489837297 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      18:34223042 (GRCh38)
      18:31803006 (GRCh37)
      Canonical SPDI:
      NC_000018.10:34223041:C:T
      Gene:
      NOL4 (Varview)
      Functional Consequence:
      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000018.10:g.34223042C>T, NC_000018.9:g.31803006C>T, NM_003787.5:c.212G>A, NM_003787.4:c.212G>A, XM_006722563.4:c.212G>A, XM_006722563.3:c.212G>A, XM_006722563.2:c.212G>A, XM_006722563.1:c.212G>A, XR_935261.4:n.1872G>A, XR_935261.3:n.384G>A, XR_935261.2:n.1733G>A, XR_935261.1:n.1232G>A, XM_011526237.3:c.212G>A, XM_011526237.2:c.212G>A, XM_011526237.1:c.212G>A, NM_001384472.1:c.-750G>A, NM_001384467.1:c.212G>A, NM_001384473.1:c.-754G>A, NM_001384471.1:c.-364G>A, NM_001384468.1:c.212G>A, NM_001384469.1:c.212G>A, XM_047437901.1:c.212G>A, XM_047437902.1:c.212G>A, NM_001353233.1:c.-754G>A, NM_001353237.1:c.-295G>A, NM_001353232.1:c.212G>A, NM_001198546.1:c.212G>A, NM_001198548.1:c.212G>A, XM_047437903.1:c.212G>A, XM_047437904.1:c.212G>A, NP_003778.2:p.Arg71His, XP_006722626.1:p.Arg71His, XP_011524539.1:p.Arg71His, NP_001371396.1:p.Arg71His, NP_001371397.1:p.Arg71His, NP_001371398.1:p.Arg71His, XP_047293857.1:p.Arg71His, XP_047293858.1:p.Arg71His, NP_001340161.1:p.Arg71His, NP_001185475.1:p.Arg71His, NP_001185477.1:p.Arg71His, XP_047293859.1:p.Arg71His, XP_047293860.1:p.Arg71His

      3.

      rs1489363514 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        18:33852404 (GRCh38)
        18:31432368 (GRCh37)
        Canonical SPDI:
        NC_000018.10:33852403:T:C,NC_000018.10:33852403:T:G
        Gene:
        NOL4 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        C=0.000008/2 (TOPMED)
        HGVS:
        NC_000018.10:g.33852404T>C, NC_000018.10:g.33852404T>G, NC_000018.9:g.31432368T>C, NC_000018.9:g.31432368T>G, NM_003787.5:c.*438A>G, NM_003787.5:c.*438A>C, NM_003787.4:c.*438A>G, NM_003787.4:c.*438A>C, XM_006722563.4:c.*438A>G, XM_006722563.4:c.*438A>C, XM_006722563.2:c.*438A>G, XM_006722563.2:c.*438A>C, XM_006722563.1:c.*438A>G, XM_006722563.1:c.*438A>C, XM_011526239.4:c.*438A>G, XM_011526239.4:c.*438A>C, XM_011526239.3:c.*438A>G, XM_011526239.3:c.*438A>C, XM_011526239.2:c.*438A>G, XM_011526239.2:c.*438A>C, XM_011526239.1:c.*438A>G, XM_011526239.1:c.*438A>C, XM_011526237.3:c.*438A>G, XM_011526237.3:c.*438A>C, XM_011526237.1:c.*438A>G, XM_011526237.1:c.*438A>C, XM_011526238.3:c.*438A>G, XM_011526238.3:c.*438A>C, XM_011526238.1:c.*438A>G, XM_011526238.1:c.*438A>C, XM_017026058.3:c.*438A>G, XM_017026058.3:c.*438A>C, XM_017026058.2:c.*438A>G, XM_017026058.2:c.*438A>C, XM_017026058.1:c.*438A>G, XM_017026058.1:c.*438A>C, NM_001353235.2:c.*438A>G, NM_001353235.2:c.*438A>C, NM_001353235.1:c.*438A>G, NM_001353235.1:c.*438A>C, NM_001198547.2:c.*438A>G, NM_001198547.2:c.*438A>C, NM_001198547.1:c.*438A>G, NM_001198547.1:c.*438A>C, XM_017026053.2:c.*438A>G, XM_017026053.2:c.*438A>C, XM_017026053.1:c.*438A>G, XM_017026053.1:c.*438A>C, NM_001282527.2:c.*438A>G, NM_001282527.2:c.*438A>C, NM_001282527.1:c.*438A>G, NM_001282527.1:c.*438A>C, NM_001353234.2:c.*438A>G, NM_001353234.2:c.*438A>C, NM_001353234.1:c.*438A>G, NM_001353234.1:c.*438A>C, XM_017026052.2:c.*438A>G, XM_017026052.2:c.*438A>C, XM_017026052.1:c.*438A>G, XM_017026052.1:c.*438A>C, XM_024451279.2:c.*438A>G, XM_024451279.2:c.*438A>C, NM_001198549.2:c.*438A>G, NM_001198549.2:c.*438A>C, NM_001198549.1:c.*438A>G, NM_001198549.1:c.*438A>C, NM_001353236.2:c.*438A>G, NM_001353236.2:c.*438A>C, NM_001353236.1:c.*438A>G, NM_001353236.1:c.*438A>C, NM_001384472.1:c.*438A>G, NM_001384472.1:c.*438A>C, NM_001384467.1:c.*438A>G, NM_001384467.1:c.*438A>C, NM_001384473.1:c.*438A>G, NM_001384473.1:c.*438A>C, NM_001384471.1:c.*438A>G, NM_001384471.1:c.*438A>C, NM_001384468.1:c.*438A>G, NM_001384468.1:c.*438A>C, NM_001384469.1:c.*438A>G, NM_001384469.1:c.*438A>C, XM_047437901.1:c.*438A>G, XM_047437901.1:c.*438A>C, XM_047437902.1:c.*438A>G, XM_047437902.1:c.*438A>C, NM_001384470.1:c.*438A>G, NM_001384470.1:c.*438A>C, NM_001353233.1:c.*438A>G, NM_001353233.1:c.*438A>C, NM_001353237.1:c.*438A>G, NM_001353237.1:c.*438A>C, NM_001353232.1:c.*611A>G, NM_001353232.1:c.*611A>C, NM_001198546.1:c.*438A>G, NM_001198546.1:c.*438A>C, NR_036752.1:n.2391A>G, NR_036752.1:n.2391A>C, NM_001198548.1:c.*438A>G, NM_001198548.1:c.*438A>C, XM_047437905.1:c.*438A>G, XM_047437905.1:c.*438A>C

        4.

        rs1489320515 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          18:33851321 (GRCh38)
          18:31431285 (GRCh37)
          Canonical SPDI:
          NC_000018.10:33851320:A:G
          Gene:
          NOL4 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000018.10:g.33851321A>G, NC_000018.9:g.31431285A>G, NM_003787.5:c.*1521T>C, NM_003787.4:c.*1521T>C, XM_006722563.4:c.*1521T>C, XM_006722563.2:c.*1521T>C, XM_006722563.1:c.*1521T>C, XM_011526239.4:c.*1521T>C, XM_011526239.3:c.*1521T>C, XM_011526239.2:c.*1521T>C, XM_011526239.1:c.*1521T>C, XM_011526237.3:c.*1521T>C, XM_011526237.1:c.*1521T>C, XM_011526238.3:c.*1521T>C, XM_011526238.1:c.*1521T>C, XM_017026058.3:c.*1521T>C, XM_017026058.2:c.*1521T>C, XM_017026058.1:c.*1521T>C, NM_001353235.2:c.*1521T>C, NM_001353235.1:c.*1521T>C, NM_001198547.2:c.*1521T>C, NM_001198547.1:c.*1521T>C, XM_017026053.2:c.*1521T>C, XM_017026053.1:c.*1521T>C, NM_001282527.2:c.*1521T>C, NM_001282527.1:c.*1521T>C, NM_001353234.2:c.*1521T>C, NM_001353234.1:c.*1521T>C, XM_017026052.2:c.*1521T>C, XM_017026052.1:c.*1521T>C, XM_024451279.2:c.*1521T>C, NM_001198549.2:c.*1521T>C, NM_001198549.1:c.*1521T>C, NM_001353236.2:c.*1521T>C, NM_001353236.1:c.*1521T>C, NM_001384472.1:c.*1521T>C, NM_001384467.1:c.*1521T>C, NM_001384473.1:c.*1521T>C, NM_001384471.1:c.*1521T>C, NM_001384468.1:c.*1521T>C, NM_001384469.1:c.*1521T>C, XM_047437901.1:c.*1521T>C, XM_047437902.1:c.*1521T>C, NM_001384470.1:c.*1521T>C, NM_001353233.1:c.*1521T>C, NM_001353237.1:c.*1521T>C, NM_001353232.1:c.*1694T>C, NM_001198546.1:c.*1521T>C, NR_036752.1:n.3474T>C, NM_001198548.1:c.*1521T>C, XM_047437905.1:c.*1521T>C

          5.

          rs1488773680 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            18:33851527 (GRCh38)
            18:31431491 (GRCh37)
            Canonical SPDI:
            NC_000018.10:33851526:A:G
            Gene:
            NOL4 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000019/5 (TOPMED)
            G=0.000342/1 (KOREAN)
            G=0.001092/2 (Korea1K)
            HGVS:
            NC_000018.10:g.33851527A>G, NC_000018.9:g.31431491A>G, NM_003787.5:c.*1315T>C, NM_003787.4:c.*1315T>C, XM_006722563.4:c.*1315T>C, XM_006722563.2:c.*1315T>C, XM_006722563.1:c.*1315T>C, XM_011526239.4:c.*1315T>C, XM_011526239.3:c.*1315T>C, XM_011526239.2:c.*1315T>C, XM_011526239.1:c.*1315T>C, XM_011526237.3:c.*1315T>C, XM_011526237.1:c.*1315T>C, XM_011526238.3:c.*1315T>C, XM_011526238.1:c.*1315T>C, XM_017026058.3:c.*1315T>C, XM_017026058.2:c.*1315T>C, XM_017026058.1:c.*1315T>C, NM_001353235.2:c.*1315T>C, NM_001353235.1:c.*1315T>C, NM_001198547.2:c.*1315T>C, NM_001198547.1:c.*1315T>C, XM_017026053.2:c.*1315T>C, XM_017026053.1:c.*1315T>C, NM_001282527.2:c.*1315T>C, NM_001282527.1:c.*1315T>C, NM_001353234.2:c.*1315T>C, NM_001353234.1:c.*1315T>C, XM_017026052.2:c.*1315T>C, XM_017026052.1:c.*1315T>C, XM_024451279.2:c.*1315T>C, NM_001198549.2:c.*1315T>C, NM_001198549.1:c.*1315T>C, NM_001353236.2:c.*1315T>C, NM_001353236.1:c.*1315T>C, NM_001384472.1:c.*1315T>C, NM_001384467.1:c.*1315T>C, NM_001384473.1:c.*1315T>C, NM_001384471.1:c.*1315T>C, NM_001384468.1:c.*1315T>C, NM_001384469.1:c.*1315T>C, XM_047437901.1:c.*1315T>C, XM_047437902.1:c.*1315T>C, NM_001384470.1:c.*1315T>C, NM_001353233.1:c.*1315T>C, NM_001353237.1:c.*1315T>C, NM_001353232.1:c.*1488T>C, NM_001198546.1:c.*1315T>C, NR_036752.1:n.3268T>C, NM_001198548.1:c.*1315T>C, XM_047437905.1:c.*1315T>C

            6.

            rs1488499377 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              18:34093485 (GRCh38)
              18:31673449 (GRCh37)
              Canonical SPDI:
              NC_000018.10:34093484:T:C
              Gene:
              NOL4 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000018.10:g.34093485T>C, NC_000018.9:g.31673449T>C, NM_003787.5:c.752A>G, NM_003787.4:c.752A>G, XM_006722563.4:c.752A>G, XM_006722563.3:c.752A>G, XM_006722563.2:c.752A>G, XM_006722563.1:c.752A>G, XM_011526239.4:c.287A>G, XM_011526239.3:c.287A>G, XM_011526239.2:c.287A>G, XM_011526239.1:c.287A>G, XR_935261.4:n.2412A>G, XR_935261.3:n.924A>G, XR_935261.2:n.2273A>G, XR_935261.1:n.1772A>G, XM_011526237.3:c.752A>G, XM_011526237.2:c.752A>G, XM_011526237.1:c.752A>G, XM_011526238.3:c.410A>G, XM_011526238.2:c.410A>G, XM_011526238.1:c.410A>G, XM_017026058.3:c.287A>G, XM_017026058.2:c.287A>G, XM_017026058.1:c.287A>G, NM_001353235.2:c.287A>G, NM_001353235.1:c.287A>G, NM_001198547.2:c.530A>G, NM_001198547.1:c.530A>G, XM_017026053.2:c.287A>G, XM_017026053.1:c.287A>G, NM_001282527.2:c.287A>G, NM_001282527.1:c.287A>G, NM_001353234.2:c.530A>G, NM_001353234.1:c.530A>G, XM_017026052.2:c.392A>G, XM_017026052.1:c.392A>G, XM_024451279.2:c.410A>G, XM_024451279.1:c.410A>G, NM_001384472.1:c.-169A>G, NM_001384467.1:c.821A>G, NM_001384473.1:c.-214A>G, NM_001384471.1:c.287A>G, NM_001384468.1:c.821A>G, NM_001384469.1:c.815A>G, XM_047437901.1:c.752A>G, XM_047437902.1:c.752A>G, NM_001384470.1:c.410A>G, NM_001353233.1:c.-214A>G, NM_001353237.1:c.287A>G, NM_001353232.1:c.752A>G, NM_001198546.1:c.752A>G, NR_036752.1:n.980A>G, NM_001198548.1:c.752A>G, XM_047437905.1:c.287A>G, XM_047437903.1:c.752A>G, XM_047437904.1:c.752A>G, NP_003778.2:p.Asn251Ser, XP_006722626.1:p.Asn251Ser, XP_011524541.1:p.Asn96Ser, XP_011524539.1:p.Asn251Ser, XP_011524540.1:p.Asn137Ser, XP_016881547.1:p.Asn96Ser, NP_001340164.1:p.Asn96Ser, NP_001185476.1:p.Asn177Ser, XP_016881542.1:p.Asn96Ser, NP_001269456.1:p.Asn96Ser, NP_001340163.1:p.Asn177Ser, XP_016881541.1:p.Asn131Ser, XP_024307047.1:p.Asn137Ser, NP_001371396.1:p.Asn274Ser, NP_001371400.1:p.Asn96Ser, NP_001371397.1:p.Asn274Ser, NP_001371398.1:p.Asn272Ser, XP_047293857.1:p.Asn251Ser, XP_047293858.1:p.Asn251Ser, NP_001371399.1:p.Asn137Ser, NP_001340166.1:p.Asn96Ser, NP_001340161.1:p.Asn251Ser, NP_001185475.1:p.Asn251Ser, NP_001185477.1:p.Asn251Ser, XP_047293861.1:p.Asn96Ser, XP_047293859.1:p.Asn251Ser, XP_047293860.1:p.Asn251Ser

              7.

              rs1488495953 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                18:34104060 (GRCh38)
                18:31684024 (GRCh37)
                Canonical SPDI:
                NC_000018.10:34104059:G:A
                Gene:
                NOL4 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000018.10:g.34104060G>A, NC_000018.9:g.31684024G>A, NM_003787.5:c.626C>T, NM_003787.4:c.626C>T, XM_006722563.4:c.626C>T, XM_006722563.3:c.626C>T, XM_006722563.2:c.626C>T, XM_006722563.1:c.626C>T, XM_011526239.4:c.161C>T, XM_011526239.3:c.161C>T, XM_011526239.2:c.161C>T, XM_011526239.1:c.161C>T, XR_935261.4:n.2286C>T, XR_935261.3:n.798C>T, XR_935261.2:n.2147C>T, XR_935261.1:n.1646C>T, XM_011526237.3:c.626C>T, XM_011526237.2:c.626C>T, XM_011526237.1:c.626C>T, XM_011526238.3:c.284C>T, XM_011526238.2:c.284C>T, XM_011526238.1:c.284C>T, XM_017026058.3:c.161C>T, XM_017026058.2:c.161C>T, XM_017026058.1:c.161C>T, NM_001353235.2:c.161C>T, NM_001353235.1:c.161C>T, NM_001198547.2:c.404C>T, NM_001198547.1:c.404C>T, XM_017026053.2:c.161C>T, XM_017026053.1:c.161C>T, NM_001282527.2:c.161C>T, NM_001282527.1:c.161C>T, NM_001353234.2:c.404C>T, NM_001353234.1:c.404C>T, XM_017026052.2:c.266C>T, XM_017026052.1:c.266C>T, XM_024451279.2:c.284C>T, XM_024451279.1:c.284C>T, NM_001384472.1:c.-295C>T, NM_001384467.1:c.695C>T, NM_001384473.1:c.-340C>T, NM_001384471.1:c.161C>T, NM_001384468.1:c.695C>T, NM_001384469.1:c.689C>T, XM_047437901.1:c.626C>T, XM_047437902.1:c.626C>T, NM_001384470.1:c.284C>T, NM_001353233.1:c.-340C>T, NM_001353237.1:c.161C>T, NM_001353232.1:c.626C>T, NM_001198546.1:c.626C>T, NR_036752.1:n.854C>T, NM_001198548.1:c.626C>T, XM_047437905.1:c.161C>T, XM_047437903.1:c.626C>T, XM_047437904.1:c.626C>T, NP_003778.2:p.Ser209Leu, XP_006722626.1:p.Ser209Leu, XP_011524541.1:p.Ser54Leu, XP_011524539.1:p.Ser209Leu, XP_011524540.1:p.Ser95Leu, XP_016881547.1:p.Ser54Leu, NP_001340164.1:p.Ser54Leu, NP_001185476.1:p.Ser135Leu, XP_016881542.1:p.Ser54Leu, NP_001269456.1:p.Ser54Leu, NP_001340163.1:p.Ser135Leu, XP_016881541.1:p.Ser89Leu, XP_024307047.1:p.Ser95Leu, NP_001371396.1:p.Ser232Leu, NP_001371400.1:p.Ser54Leu, NP_001371397.1:p.Ser232Leu, NP_001371398.1:p.Ser230Leu, XP_047293857.1:p.Ser209Leu, XP_047293858.1:p.Ser209Leu, NP_001371399.1:p.Ser95Leu, NP_001340166.1:p.Ser54Leu, NP_001340161.1:p.Ser209Leu, NP_001185475.1:p.Ser209Leu, NP_001185477.1:p.Ser209Leu, XP_047293861.1:p.Ser54Leu, XP_047293859.1:p.Ser209Leu, XP_047293860.1:p.Ser209Leu

                8.

                rs1486537303 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  18:34129979 (GRCh38)
                  18:31709943 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:34129978:T:C
                  Gene:
                  NOL4 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000018.10:g.34129979T>C, NC_000018.9:g.31709943T>C, NM_003787.5:c.306A>G, NM_003787.4:c.306A>G, XM_006722563.4:c.306A>G, XM_006722563.3:c.306A>G, XM_006722563.2:c.306A>G, XM_006722563.1:c.306A>G, XR_935261.4:n.1966A>G, XR_935261.3:n.478A>G, XR_935261.2:n.1827A>G, XR_935261.1:n.1326A>G, XM_011526237.3:c.306A>G, XM_011526237.2:c.306A>G, XM_011526237.1:c.306A>G, XM_011526238.3:c.-37A>G, XM_011526238.2:c.-37A>G, XM_011526238.1:c.-37A>G, NM_001353235.2:c.-201A>G, NM_001353235.1:c.-201A>G, NM_001198547.2:c.84A>G, NM_001198547.1:c.84A>G, NM_001282527.2:c.-201A>G, NM_001282527.1:c.-201A>G, NM_001353234.2:c.84A>G, NM_001353234.1:c.84A>G, XM_024451279.2:c.-37A>G, XM_024451279.1:c.-37A>G, NM_001384472.1:c.-656A>G, NM_001384467.1:c.306A>G, NM_001384473.1:c.-660A>G, NM_001384471.1:c.-270A>G, NM_001384468.1:c.306A>G, NM_001384469.1:c.306A>G, XM_047437901.1:c.306A>G, XM_047437902.1:c.306A>G, NM_001384470.1:c.-37A>G, NM_001353233.1:c.-660A>G, NM_001353237.1:c.-201A>G, NM_001353232.1:c.306A>G, NM_001198546.1:c.306A>G, NR_036752.1:n.493A>G, NM_001198548.1:c.306A>G, XM_047437903.1:c.306A>G, XM_047437904.1:c.306A>G

                  9.

                  rs1486118915 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    G>T
                    Chromosome:
                    no mapping
                    Canonical SPDI:

                    10.

                    rs1484235496 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      18:34019519 (GRCh38)
                      18:31599483 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:34019518:C:T
                      Gene:
                      NOL4 (Varview)
                      Functional Consequence:
                      missense_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_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=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000018.10:g.34019519C>T, NC_000018.9:g.31599483C>T, NM_003787.5:c.855G>A, NM_003787.4:c.855G>A, XM_006722563.4:c.855G>A, XM_006722563.3:c.855G>A, XM_006722563.2:c.855G>A, XM_006722563.1:c.855G>A, XM_011526239.4:c.390G>A, XM_011526239.3:c.390G>A, XM_011526239.2:c.390G>A, XM_011526239.1:c.390G>A, XR_935261.4:n.2515G>A, XR_935261.3:n.1027G>A, XR_935261.2:n.2376G>A, XR_935261.1:n.1875G>A, XM_011526237.3:c.855G>A, XM_011526237.2:c.855G>A, XM_011526237.1:c.855G>A, XM_011526238.3:c.513G>A, XM_011526238.2:c.513G>A, XM_011526238.1:c.513G>A, XM_017026058.3:c.390G>A, XM_017026058.2:c.390G>A, XM_017026058.1:c.390G>A, NM_001353235.2:c.390G>A, NM_001353235.1:c.390G>A, NM_001198547.2:c.633G>A, NM_001198547.1:c.633G>A, XM_017026053.2:c.390G>A, XM_017026053.1:c.390G>A, NM_001282527.2:c.390G>A, NM_001282527.1:c.390G>A, NM_001353234.2:c.633G>A, NM_001353234.1:c.633G>A, XM_017026052.2:c.495G>A, XM_017026052.1:c.495G>A, XM_024451279.2:c.513G>A, XM_024451279.1:c.513G>A, NM_001198549.2:c.-1G>A, NM_001198549.1:c.-1G>A, NM_001353236.2:c.-1G>A, NM_001353236.1:c.-1G>A, NM_001384472.1:c.-1G>A, NM_001384467.1:c.924G>A, NM_001384473.1:c.102G>A, NM_001384471.1:c.390G>A, NM_001384468.1:c.924G>A, NM_001384469.1:c.918G>A, XM_047437901.1:c.855G>A, XM_047437902.1:c.855G>A, NM_001384470.1:c.513G>A, NM_001353233.1:c.102G>A, NM_001353237.1:c.390G>A, NM_001353232.1:c.855G>A, NM_001198546.1:c.855G>A, NR_036752.1:n.1083G>A, NM_001198548.1:c.855G>A, XM_047437905.1:c.390G>A, XM_047437903.1:c.*79G>A, XM_047437904.1:c.920G>A, XP_047293860.1:p.Arg307Lys

                      11.

                      rs1483249031 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TTTTTTTTTTTTTT>- [Show Flanks]
                        Chromosome:
                        18:33852436 (GRCh38)
                        18:31432400 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:33852435:TTTTTTTTTTTTTT:
                        Gene:
                        NOL4 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000017/2 (GnomAD)
                        HGVS:
                        NC_000018.10:g.33852436_33852449del, NC_000018.9:g.31432400_31432413del, NM_003787.5:c.*393_*406del, NM_003787.4:c.*393_*406del, XM_006722563.4:c.*393_*406del, XM_006722563.3:c.*393_*406del, XM_006722563.2:c.*393_*406del, XM_006722563.1:c.*393_*406del, XM_011526239.4:c.*393_*406del, XM_011526239.3:c.*393_*406del, XM_011526239.2:c.*393_*406del, XM_011526239.1:c.*393_*406del, XM_011526237.3:c.*393_*406del, XM_011526237.2:c.*393_*406del, XM_011526237.1:c.*393_*406del, XM_011526238.3:c.*393_*406del, XM_011526238.2:c.*393_*406del, XM_011526238.1:c.*393_*406del, XM_017026058.3:c.*393_*406del, XM_017026058.2:c.*393_*406del, XM_017026058.1:c.*393_*406del, NM_001353235.2:c.*393_*406del, NM_001353235.1:c.*393_*406del, NM_001198547.2:c.*393_*406del, NM_001198547.1:c.*393_*406del, XM_017026053.2:c.*393_*406del, XM_017026053.1:c.*393_*406del, NM_001282527.2:c.*393_*406del, NM_001282527.1:c.*393_*406del, NM_001353234.2:c.*393_*406del, NM_001353234.1:c.*393_*406del, XM_017026052.2:c.*393_*406del, XM_017026052.1:c.*393_*406del, XM_024451279.2:c.*393_*406del, XM_024451279.1:c.*393_*406del, NM_001198549.2:c.*393_*406del, NM_001198549.1:c.*393_*406del, NM_001353236.2:c.*393_*406del, NM_001353236.1:c.*393_*406del, NM_001384472.1:c.*393_*406del, NM_001384467.1:c.*393_*406del, NM_001384473.1:c.*393_*406del, NM_001384471.1:c.*393_*406del, NM_001384468.1:c.*393_*406del, NM_001384469.1:c.*393_*406del, XM_047437901.1:c.*393_*406del, XM_047437902.1:c.*393_*406del, NM_001384470.1:c.*393_*406del, NM_001353233.1:c.*393_*406del, NM_001353237.1:c.*393_*406del, NM_001353232.1:c.*566_*579del, NM_001198546.1:c.*393_*406del, NR_036752.1:n.2346_2359del, NM_001198548.1:c.*393_*406del, XM_047437905.1:c.*393_*406del

                        12.

                        rs1483008793 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          18:34093498 (GRCh38)
                          18:31673462 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:34093497:G:T
                          Gene:
                          NOL4 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                          HGVS:
                          NC_000018.10:g.34093498G>T, NC_000018.9:g.31673462G>T, NM_003787.5:c.739C>A, NM_003787.4:c.739C>A, XM_006722563.4:c.739C>A, XM_006722563.3:c.739C>A, XM_006722563.2:c.739C>A, XM_006722563.1:c.739C>A, XM_011526239.4:c.274C>A, XM_011526239.3:c.274C>A, XM_011526239.2:c.274C>A, XM_011526239.1:c.274C>A, XR_935261.4:n.2399C>A, XR_935261.3:n.911C>A, XR_935261.2:n.2260C>A, XR_935261.1:n.1759C>A, XM_011526237.3:c.739C>A, XM_011526237.2:c.739C>A, XM_011526237.1:c.739C>A, XM_011526238.3:c.397C>A, XM_011526238.2:c.397C>A, XM_011526238.1:c.397C>A, XM_017026058.3:c.274C>A, XM_017026058.2:c.274C>A, XM_017026058.1:c.274C>A, NM_001353235.2:c.274C>A, NM_001353235.1:c.274C>A, NM_001198547.2:c.517C>A, NM_001198547.1:c.517C>A, XM_017026053.2:c.274C>A, XM_017026053.1:c.274C>A, NM_001282527.2:c.274C>A, NM_001282527.1:c.274C>A, NM_001353234.2:c.517C>A, NM_001353234.1:c.517C>A, XM_017026052.2:c.379C>A, XM_017026052.1:c.379C>A, XM_024451279.2:c.397C>A, XM_024451279.1:c.397C>A, NM_001384472.1:c.-182C>A, NM_001384467.1:c.808C>A, NM_001384473.1:c.-227C>A, NM_001384471.1:c.274C>A, NM_001384468.1:c.808C>A, NM_001384469.1:c.802C>A, XM_047437901.1:c.739C>A, XM_047437902.1:c.739C>A, NM_001384470.1:c.397C>A, NM_001353233.1:c.-227C>A, NM_001353237.1:c.274C>A, NM_001353232.1:c.739C>A, NM_001198546.1:c.739C>A, NR_036752.1:n.967C>A, NM_001198548.1:c.739C>A, XM_047437905.1:c.274C>A, XM_047437903.1:c.739C>A, XM_047437904.1:c.739C>A, NP_003778.2:p.Gln247Lys, XP_006722626.1:p.Gln247Lys, XP_011524541.1:p.Gln92Lys, XP_011524539.1:p.Gln247Lys, XP_011524540.1:p.Gln133Lys, XP_016881547.1:p.Gln92Lys, NP_001340164.1:p.Gln92Lys, NP_001185476.1:p.Gln173Lys, XP_016881542.1:p.Gln92Lys, NP_001269456.1:p.Gln92Lys, NP_001340163.1:p.Gln173Lys, XP_016881541.1:p.Gln127Lys, XP_024307047.1:p.Gln133Lys, NP_001371396.1:p.Gln270Lys, NP_001371400.1:p.Gln92Lys, NP_001371397.1:p.Gln270Lys, NP_001371398.1:p.Gln268Lys, XP_047293857.1:p.Gln247Lys, XP_047293858.1:p.Gln247Lys, NP_001371399.1:p.Gln133Lys, NP_001340166.1:p.Gln92Lys, NP_001340161.1:p.Gln247Lys, NP_001185475.1:p.Gln247Lys, NP_001185477.1:p.Gln247Lys, XP_047293861.1:p.Gln92Lys, XP_047293859.1:p.Gln247Lys, XP_047293860.1:p.Gln247Lys

                          13.

                          rs1481161389 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            18:33852075 (GRCh38)
                            18:31432039 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:33852074:T:G
                            Gene:
                            NOL4 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000036/5 (GnomAD)
                            HGVS:
                            NC_000018.10:g.33852075T>G, NC_000018.9:g.31432039T>G, NM_003787.5:c.*767A>C, NM_003787.4:c.*767A>C, XM_006722563.4:c.*767A>C, XM_006722563.2:c.*767A>C, XM_006722563.1:c.*767A>C, XM_011526239.4:c.*767A>C, XM_011526239.3:c.*767A>C, XM_011526239.2:c.*767A>C, XM_011526239.1:c.*767A>C, XM_011526237.3:c.*767A>C, XM_011526237.1:c.*767A>C, XM_011526238.3:c.*767A>C, XM_011526238.1:c.*767A>C, XM_017026058.3:c.*767A>C, XM_017026058.2:c.*767A>C, XM_017026058.1:c.*767A>C, NM_001353235.2:c.*767A>C, NM_001353235.1:c.*767A>C, NM_001198547.2:c.*767A>C, NM_001198547.1:c.*767A>C, XM_017026053.2:c.*767A>C, XM_017026053.1:c.*767A>C, NM_001282527.2:c.*767A>C, NM_001282527.1:c.*767A>C, NM_001353234.2:c.*767A>C, NM_001353234.1:c.*767A>C, XM_017026052.2:c.*767A>C, XM_017026052.1:c.*767A>C, XM_024451279.2:c.*767A>C, NM_001198549.2:c.*767A>C, NM_001198549.1:c.*767A>C, NM_001353236.2:c.*767A>C, NM_001353236.1:c.*767A>C, NM_001384472.1:c.*767A>C, NM_001384467.1:c.*767A>C, NM_001384473.1:c.*767A>C, NM_001384471.1:c.*767A>C, NM_001384468.1:c.*767A>C, NM_001384469.1:c.*767A>C, XM_047437901.1:c.*767A>C, XM_047437902.1:c.*767A>C, NM_001384470.1:c.*767A>C, NM_001353233.1:c.*767A>C, NM_001353237.1:c.*767A>C, NM_001353232.1:c.*940A>C, NM_001198546.1:c.*767A>C, NR_036752.1:n.2720A>C, NM_001198548.1:c.*767A>C, XM_047437905.1:c.*767A>C

                            14.

                            rs1480094872 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              18:33883306 (GRCh38)
                              18:31463270 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:33883305:C:T
                              Gene:
                              NOL4 (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000018.10:g.33883306C>T, NC_000018.9:g.31463270C>T, NM_003787.5:c.1661G>A, NM_003787.4:c.1661G>A, XM_006722563.4:c.1661G>A, XM_006722563.3:c.1661G>A, XM_006722563.2:c.1661G>A, XM_006722563.1:c.1661G>A, XM_011526239.4:c.1196G>A, XM_011526239.3:c.1196G>A, XM_011526239.2:c.1196G>A, XM_011526239.1:c.1196G>A, XM_011526237.3:c.1661G>A, XM_011526237.2:c.1661G>A, XM_011526237.1:c.1661G>A, XM_011526238.3:c.1319G>A, XM_011526238.2:c.1319G>A, XM_011526238.1:c.1319G>A, XM_017026058.3:c.1196G>A, XM_017026058.2:c.1196G>A, XM_017026058.1:c.1196G>A, NM_001353235.2:c.1196G>A, NM_001353235.1:c.1196G>A, NM_001198547.2:c.1439G>A, NM_001198547.1:c.1439G>A, XM_017026053.2:c.1196G>A, XM_017026053.1:c.1196G>A, NM_001282527.2:c.1004G>A, NM_001282527.1:c.1004G>A, NM_001353234.2:c.1247G>A, NM_001353234.1:c.1247G>A, XM_017026052.2:c.1301G>A, XM_017026052.1:c.1301G>A, XM_024451279.2:c.1319G>A, XM_024451279.1:c.1319G>A, NM_001198549.2:c.806G>A, NM_001198549.1:c.806G>A, NM_001353236.2:c.614G>A, NM_001353236.1:c.614G>A, NM_001384472.1:c.806G>A, NM_001384467.1:c.1730G>A, NM_001384473.1:c.716G>A, NM_001384471.1:c.1004G>A, NM_001384468.1:c.1538G>A, NM_001384469.1:c.1532G>A, XM_047437901.1:c.1661G>A, XM_047437902.1:c.1661G>A, NM_001384470.1:c.1127G>A, NM_001353233.1:c.908G>A, NM_001353237.1:c.1004G>A, NM_001198546.1:c.1469G>A, NR_036752.1:n.1697G>A, NM_001198548.1:c.1355G>A, XM_047437905.1:c.1004G>A, NP_003778.2:p.Ser554Asn, XP_006722626.1:p.Ser554Asn, XP_011524541.1:p.Ser399Asn, XP_011524539.1:p.Ser554Asn, XP_011524540.1:p.Ser440Asn, XP_016881547.1:p.Ser399Asn, NP_001340164.1:p.Ser399Asn, NP_001185476.1:p.Ser480Asn, XP_016881542.1:p.Ser399Asn, NP_001269456.1:p.Ser335Asn, NP_001340163.1:p.Ser416Asn, XP_016881541.1:p.Ser434Asn, XP_024307047.1:p.Ser440Asn, NP_001185478.1:p.Ser269Asn, NP_001340165.1:p.Ser205Asn, NP_001371401.1:p.Ser269Asn, NP_001371396.1:p.Ser577Asn, NP_001371402.1:p.Ser239Asn, NP_001371400.1:p.Ser335Asn, NP_001371397.1:p.Ser513Asn, NP_001371398.1:p.Ser511Asn, XP_047293857.1:p.Ser554Asn, XP_047293858.1:p.Ser554Asn, NP_001371399.1:p.Ser376Asn, NP_001340162.1:p.Ser303Asn, NP_001340166.1:p.Ser335Asn, NP_001185475.1:p.Ser490Asn, NP_001185477.1:p.Ser452Asn, XP_047293861.1:p.Ser335Asn

                              15.

                              rs1478633027 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                18:33852156 (GRCh38)
                                18:31432120 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:33852155:T:C
                                Gene:
                                NOL4 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000015/4 (TOPMED)
                                C=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000018.10:g.33852156T>C, NC_000018.9:g.31432120T>C, NM_003787.5:c.*686A>G, NM_003787.4:c.*686A>G, XM_006722563.4:c.*686A>G, XM_006722563.2:c.*686A>G, XM_006722563.1:c.*686A>G, XM_011526239.4:c.*686A>G, XM_011526239.3:c.*686A>G, XM_011526239.2:c.*686A>G, XM_011526239.1:c.*686A>G, XM_011526237.3:c.*686A>G, XM_011526237.1:c.*686A>G, XM_011526238.3:c.*686A>G, XM_011526238.1:c.*686A>G, XM_017026058.3:c.*686A>G, XM_017026058.2:c.*686A>G, XM_017026058.1:c.*686A>G, NM_001353235.2:c.*686A>G, NM_001353235.1:c.*686A>G, NM_001198547.2:c.*686A>G, NM_001198547.1:c.*686A>G, XM_017026053.2:c.*686A>G, XM_017026053.1:c.*686A>G, NM_001282527.2:c.*686A>G, NM_001282527.1:c.*686A>G, NM_001353234.2:c.*686A>G, NM_001353234.1:c.*686A>G, XM_017026052.2:c.*686A>G, XM_017026052.1:c.*686A>G, XM_024451279.2:c.*686A>G, NM_001198549.2:c.*686A>G, NM_001198549.1:c.*686A>G, NM_001353236.2:c.*686A>G, NM_001353236.1:c.*686A>G, NM_001384472.1:c.*686A>G, NM_001384467.1:c.*686A>G, NM_001384473.1:c.*686A>G, NM_001384471.1:c.*686A>G, NM_001384468.1:c.*686A>G, NM_001384469.1:c.*686A>G, XM_047437901.1:c.*686A>G, XM_047437902.1:c.*686A>G, NM_001384470.1:c.*686A>G, NM_001353233.1:c.*686A>G, NM_001353237.1:c.*686A>G, NM_001353232.1:c.*859A>G, NM_001198546.1:c.*686A>G, NR_036752.1:n.2639A>G, NM_001198548.1:c.*686A>G, XM_047437905.1:c.*686A>G

                                16.

                                rs1478621055 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  18:33851954 (GRCh38)
                                  18:31431918 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:33851953:G:A
                                  Gene:
                                  NOL4 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000018.10:g.33851954G>A, NC_000018.9:g.31431918G>A, NM_003787.5:c.*888C>T, NM_003787.4:c.*888C>T, XM_006722563.4:c.*888C>T, XM_006722563.2:c.*888C>T, XM_006722563.1:c.*888C>T, XM_011526239.4:c.*888C>T, XM_011526239.3:c.*888C>T, XM_011526239.2:c.*888C>T, XM_011526239.1:c.*888C>T, XM_011526237.3:c.*888C>T, XM_011526237.1:c.*888C>T, XM_011526238.3:c.*888C>T, XM_011526238.1:c.*888C>T, XM_017026058.3:c.*888C>T, XM_017026058.2:c.*888C>T, XM_017026058.1:c.*888C>T, NM_001353235.2:c.*888C>T, NM_001353235.1:c.*888C>T, NM_001198547.2:c.*888C>T, NM_001198547.1:c.*888C>T, XM_017026053.2:c.*888C>T, XM_017026053.1:c.*888C>T, NM_001282527.2:c.*888C>T, NM_001282527.1:c.*888C>T, NM_001353234.2:c.*888C>T, NM_001353234.1:c.*888C>T, XM_017026052.2:c.*888C>T, XM_017026052.1:c.*888C>T, XM_024451279.2:c.*888C>T, NM_001198549.2:c.*888C>T, NM_001198549.1:c.*888C>T, NM_001353236.2:c.*888C>T, NM_001353236.1:c.*888C>T, NM_001384472.1:c.*888C>T, NM_001384467.1:c.*888C>T, NM_001384473.1:c.*888C>T, NM_001384471.1:c.*888C>T, NM_001384468.1:c.*888C>T, NM_001384469.1:c.*888C>T, XM_047437901.1:c.*888C>T, XM_047437902.1:c.*888C>T, NM_001384470.1:c.*888C>T, NM_001353233.1:c.*888C>T, NM_001353237.1:c.*888C>T, NM_001353232.1:c.*1061C>T, NM_001198546.1:c.*888C>T, NR_036752.1:n.2841C>T, NM_001198548.1:c.*888C>T, XM_047437905.1:c.*888C>T

                                  17.

                                  rs1477716527 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    18:34019332 (GRCh38)
                                    18:31599296 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:34019331:C:T
                                    Gene:
                                    NOL4 (Varview)
                                    Functional Consequence:
                                    missense_variant,downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    NC_000018.10:g.34019332C>T, NC_000018.9:g.31599296C>T, NM_003787.5:c.1042G>A, NM_003787.4:c.1042G>A, XM_006722563.4:c.1042G>A, XM_006722563.3:c.1042G>A, XM_006722563.2:c.1042G>A, XM_006722563.1:c.1042G>A, XM_011526239.4:c.577G>A, XM_011526239.3:c.577G>A, XM_011526239.2:c.577G>A, XM_011526239.1:c.577G>A, XR_935261.4:n.2702G>A, XR_935261.3:n.1214G>A, XR_935261.2:n.2563G>A, XR_935261.1:n.2062G>A, XM_011526237.3:c.1042G>A, XM_011526237.2:c.1042G>A, XM_011526237.1:c.1042G>A, XM_011526238.3:c.700G>A, XM_011526238.2:c.700G>A, XM_011526238.1:c.700G>A, XM_017026058.3:c.577G>A, XM_017026058.2:c.577G>A, XM_017026058.1:c.577G>A, NM_001353235.2:c.577G>A, NM_001353235.1:c.577G>A, NM_001198547.2:c.820G>A, NM_001198547.1:c.820G>A, XM_017026053.2:c.577G>A, XM_017026053.1:c.577G>A, NM_001282527.2:c.577G>A, NM_001282527.1:c.577G>A, NM_001353234.2:c.820G>A, NM_001353234.1:c.820G>A, XM_017026052.2:c.682G>A, XM_017026052.1:c.682G>A, XM_024451279.2:c.700G>A, XM_024451279.1:c.700G>A, NM_001198549.2:c.187G>A, NM_001198549.1:c.187G>A, NM_001353236.2:c.187G>A, NM_001353236.1:c.187G>A, NM_001384472.1:c.187G>A, NM_001384467.1:c.1111G>A, NM_001384473.1:c.289G>A, NM_001384471.1:c.577G>A, NM_001384468.1:c.1111G>A, NM_001384469.1:c.1105G>A, XM_047437901.1:c.1042G>A, XM_047437902.1:c.1042G>A, NM_001384470.1:c.700G>A, NM_001353233.1:c.289G>A, NM_001353237.1:c.577G>A, NM_001353232.1:c.1042G>A, NM_001198546.1:c.1042G>A, NR_036752.1:n.1270G>A, NM_001198548.1:c.1042G>A, XM_047437905.1:c.577G>A, XM_047437904.1:c.*129G>A, NP_003778.2:p.Glu348Lys, XP_006722626.1:p.Glu348Lys, XP_011524541.1:p.Glu193Lys, XP_011524539.1:p.Glu348Lys, XP_011524540.1:p.Glu234Lys, XP_016881547.1:p.Glu193Lys, NP_001340164.1:p.Glu193Lys, NP_001185476.1:p.Glu274Lys, XP_016881542.1:p.Glu193Lys, NP_001269456.1:p.Glu193Lys, NP_001340163.1:p.Glu274Lys, XP_016881541.1:p.Glu228Lys, XP_024307047.1:p.Glu234Lys, NP_001185478.1:p.Glu63Lys, NP_001340165.1:p.Glu63Lys, NP_001371401.1:p.Glu63Lys, NP_001371396.1:p.Glu371Lys, NP_001371402.1:p.Glu97Lys, NP_001371400.1:p.Glu193Lys, NP_001371397.1:p.Glu371Lys, NP_001371398.1:p.Glu369Lys, XP_047293857.1:p.Glu348Lys, XP_047293858.1:p.Glu348Lys, NP_001371399.1:p.Glu234Lys, NP_001340162.1:p.Glu97Lys, NP_001340166.1:p.Glu193Lys, NP_001340161.1:p.Glu348Lys, NP_001185475.1:p.Glu348Lys, NP_001185477.1:p.Glu348Lys, XP_047293861.1:p.Glu193Lys

                                    18.

                                    rs1477679789 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      18:33852069 (GRCh38)
                                      18:31432033 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:33852068:T:C
                                      Gene:
                                      NOL4 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000034/9 (TOPMED)
                                      C=0.00005/7 (GnomAD)
                                      HGVS:
                                      NC_000018.10:g.33852069T>C, NC_000018.9:g.31432033T>C, NM_003787.5:c.*773A>G, NM_003787.4:c.*773A>G, XM_006722563.4:c.*773A>G, XM_006722563.2:c.*773A>G, XM_006722563.1:c.*773A>G, XM_011526239.4:c.*773A>G, XM_011526239.3:c.*773A>G, XM_011526239.2:c.*773A>G, XM_011526239.1:c.*773A>G, XM_011526237.3:c.*773A>G, XM_011526237.1:c.*773A>G, XM_011526238.3:c.*773A>G, XM_011526238.1:c.*773A>G, XM_017026058.3:c.*773A>G, XM_017026058.2:c.*773A>G, XM_017026058.1:c.*773A>G, NM_001353235.2:c.*773A>G, NM_001353235.1:c.*773A>G, NM_001198547.2:c.*773A>G, NM_001198547.1:c.*773A>G, XM_017026053.2:c.*773A>G, XM_017026053.1:c.*773A>G, NM_001282527.2:c.*773A>G, NM_001282527.1:c.*773A>G, NM_001353234.2:c.*773A>G, NM_001353234.1:c.*773A>G, XM_017026052.2:c.*773A>G, XM_017026052.1:c.*773A>G, XM_024451279.2:c.*773A>G, NM_001198549.2:c.*773A>G, NM_001198549.1:c.*773A>G, NM_001353236.2:c.*773A>G, NM_001353236.1:c.*773A>G, NM_001384472.1:c.*773A>G, NM_001384467.1:c.*773A>G, NM_001384473.1:c.*773A>G, NM_001384471.1:c.*773A>G, NM_001384468.1:c.*773A>G, NM_001384469.1:c.*773A>G, XM_047437901.1:c.*773A>G, XM_047437902.1:c.*773A>G, NM_001384470.1:c.*773A>G, NM_001353233.1:c.*773A>G, NM_001353237.1:c.*773A>G, NM_001353232.1:c.*946A>G, NM_001198546.1:c.*773A>G, NR_036752.1:n.2726A>G, NM_001198548.1:c.*773A>G, XM_047437905.1:c.*773A>G

                                      19.

                                      rs1474676893 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        18:34223265 (GRCh38)
                                        18:31803229 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:34223264:T:A
                                        Gene:
                                        NOL4 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                        HGVS:

                                        20.

                                        rs1474498289 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          18:33958365 (GRCh38)
                                          18:31538329 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:33958364:G:A
                                          Gene:
                                          NOL4 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.0001/2 (ALFA)
                                          HGVS:
                                          NC_000018.10:g.33958365G>A, NC_000018.9:g.31538329G>A, NM_003787.5:c.1110C>T, NM_003787.4:c.1110C>T, XM_006722563.4:c.1110C>T, XM_006722563.3:c.1110C>T, XM_006722563.2:c.1110C>T, XM_006722563.1:c.1110C>T, XM_011526239.4:c.645C>T, XM_011526239.3:c.645C>T, XM_011526239.2:c.645C>T, XM_011526239.1:c.645C>T, XR_935261.4:n.2770C>T, XR_935261.3:n.1282C>T, XR_935261.2:n.2631C>T, XR_935261.1:n.2130C>T, XM_011526237.3:c.1110C>T, XM_011526237.2:c.1110C>T, XM_011526237.1:c.1110C>T, XM_011526238.3:c.768C>T, XM_011526238.2:c.768C>T, XM_011526238.1:c.768C>T, XM_017026058.3:c.645C>T, XM_017026058.2:c.645C>T, XM_017026058.1:c.645C>T, NM_001353235.2:c.645C>T, NM_001353235.1:c.645C>T, NM_001198547.2:c.888C>T, NM_001198547.1:c.888C>T, XM_017026053.2:c.645C>T, XM_017026053.1:c.645C>T, NM_001282527.2:c.645C>T, NM_001282527.1:c.645C>T, NM_001353234.2:c.888C>T, NM_001353234.1:c.888C>T, XM_017026052.2:c.750C>T, XM_017026052.1:c.750C>T, XM_024451279.2:c.768C>T, XM_024451279.1:c.768C>T, NM_001198549.2:c.255C>T, NM_001198549.1:c.255C>T, NM_001353236.2:c.255C>T, NM_001353236.1:c.255C>T, NM_001384472.1:c.255C>T, NM_001384467.1:c.1179C>T, NM_001384473.1:c.357C>T, NM_001384471.1:c.645C>T, NM_001384468.1:c.1179C>T, NM_001384469.1:c.1173C>T, XM_047437901.1:c.1110C>T, XM_047437902.1:c.1110C>T, NM_001384470.1:c.768C>T, NM_001353233.1:c.357C>T, NM_001353237.1:c.645C>T, NM_001353232.1:c.1110C>T, NM_001198546.1:c.1110C>T, NR_036752.1:n.1338C>T, NM_001198548.1:c.1110C>T, XM_047437905.1:c.645C>T

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...