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Items: 1 to 20 of 680

1.

rs1489696840 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    12:95534073 (GRCh38)
    12:95927849 (GRCh37)
    Canonical SPDI:
    NC_000012.12:95534072:G:C
    Gene:
    USP44 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.95534073G>C, NC_000012.11:g.95927849G>C, NG_052622.1:g.22457C>G, NM_032147.5:c.184C>G, NM_032147.4:c.184C>G, NM_032147.3:c.184C>G, NM_001042403.3:c.184C>G, NM_001042403.2:c.184C>G, NR_125360.3:n.340C>G, NR_125360.2:n.382C>G, NR_125360.1:n.254C>G, NR_144946.2:n.286C>G, NR_144946.1:n.328C>G, NM_001347937.2:c.184C>G, NM_001347937.1:c.184C>G, NM_001278393.2:c.184C>G, NM_001278393.1:c.184C>G, NR_144948.2:n.531C>G, NR_144948.1:n.573C>G, NM_001347936.2:c.184C>G, NM_001347936.1:c.184C>G, NR_144944.2:n.531C>G, NR_144944.1:n.573C>G, NR_144945.2:n.286C>G, NR_144945.1:n.328C>G, NR_144947.2:n.286C>G, NR_144947.1:n.328C>G, XM_011538805.3:c.184C>G, XM_011538805.2:c.184C>G, XM_011538805.1:c.184C>G, XM_011538804.3:c.184C>G, XM_011538804.2:c.184C>G, XM_011538804.1:c.184C>G, XM_011538800.3:c.184C>G, XM_011538800.2:c.184C>G, XM_011538800.1:c.184C>G, XM_011538806.3:c.184C>G, XM_011538806.2:c.184C>G, XM_011538806.1:c.184C>G, XM_005269173.2:c.184C>G, XM_005269173.1:c.184C>G, XM_005269172.2:c.184C>G, XM_005269172.1:c.184C>G, XM_011538802.2:c.184C>G, XM_011538802.1:c.184C>G, XM_011538801.2:c.184C>G, XM_011538801.1:c.184C>G, XM_005269174.2:c.184C>G, XM_005269174.1:c.184C>G, XR_944757.2:n.459C>G, XR_944757.1:n.467C>G, XM_047429644.1:c.184C>G, XM_047429643.1:c.184C>G, XM_047429645.1:c.184C>G, XM_011538803.1:c.184C>G, XM_047429642.1:c.184C>G, XM_047429646.1:c.184C>G, XM_047429647.1:c.184C>G, NP_115523.2:p.Gln62Glu, NP_001035862.1:p.Gln62Glu, NP_001334866.1:p.Gln62Glu, NP_001265322.1:p.Gln62Glu, NP_001334865.1:p.Gln62Glu, XP_011537107.1:p.Gln62Glu, XP_011537106.1:p.Gln62Glu, XP_011537102.1:p.Gln62Glu, XP_011537108.1:p.Gln62Glu, XP_005269230.1:p.Gln62Glu, XP_005269229.1:p.Gln62Glu, XP_011537104.1:p.Gln62Glu, XP_011537103.1:p.Gln62Glu, XP_005269231.1:p.Gln62Glu, XP_047285600.1:p.Gln62Glu, XP_047285599.1:p.Gln62Glu, XP_047285601.1:p.Gln62Glu, XP_011537105.1:p.Gln62Glu, XP_047285598.1:p.Gln62Glu, XP_047285602.1:p.Gln62Glu, XP_047285603.1:p.Gln62Glu

    2.

    rs1488363326 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      12:95534113 (GRCh38)
      12:95927889 (GRCh37)
      Canonical SPDI:
      NC_000012.12:95534112:G:C
      Gene:
      USP44 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.95534113G>C, NC_000012.11:g.95927889G>C, NG_052622.1:g.22417C>G, NM_032147.5:c.144C>G, NM_032147.4:c.144C>G, NM_032147.3:c.144C>G, NM_001042403.3:c.144C>G, NM_001042403.2:c.144C>G, NR_125360.3:n.300C>G, NR_125360.2:n.342C>G, NR_125360.1:n.214C>G, NR_144946.2:n.246C>G, NR_144946.1:n.288C>G, NM_001347937.2:c.144C>G, NM_001347937.1:c.144C>G, NM_001278393.2:c.144C>G, NM_001278393.1:c.144C>G, NR_144948.2:n.491C>G, NR_144948.1:n.533C>G, NM_001347936.2:c.144C>G, NM_001347936.1:c.144C>G, NR_144944.2:n.491C>G, NR_144944.1:n.533C>G, NR_144945.2:n.246C>G, NR_144945.1:n.288C>G, NR_144947.2:n.246C>G, NR_144947.1:n.288C>G, XM_011538805.3:c.144C>G, XM_011538805.2:c.144C>G, XM_011538805.1:c.144C>G, XM_011538804.3:c.144C>G, XM_011538804.2:c.144C>G, XM_011538804.1:c.144C>G, XM_011538800.3:c.144C>G, XM_011538800.2:c.144C>G, XM_011538800.1:c.144C>G, XM_011538806.3:c.144C>G, XM_011538806.2:c.144C>G, XM_011538806.1:c.144C>G, XM_005269173.2:c.144C>G, XM_005269173.1:c.144C>G, XM_005269172.2:c.144C>G, XM_005269172.1:c.144C>G, XM_011538802.2:c.144C>G, XM_011538802.1:c.144C>G, XM_011538801.2:c.144C>G, XM_011538801.1:c.144C>G, XM_005269174.2:c.144C>G, XM_005269174.1:c.144C>G, XR_944757.2:n.419C>G, XR_944757.1:n.427C>G, XM_047429644.1:c.144C>G, XM_047429643.1:c.144C>G, XM_047429645.1:c.144C>G, XM_011538803.1:c.144C>G, XM_047429642.1:c.144C>G, XM_047429646.1:c.144C>G, XM_047429647.1:c.144C>G

      3.

      rs1486186979 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:95518294 (GRCh38)
        12:95912070 (GRCh37)
        Canonical SPDI:
        NC_000012.12:95518293:T:C
        Gene:
        USP44 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.95518294T>C, NC_000012.11:g.95912070T>C, NG_052622.1:g.38236A>G, NM_032147.5:c.1999A>G, NM_032147.4:c.1999A>G, NM_032147.3:c.1999A>G, NM_001042403.3:c.1999A>G, NM_001042403.2:c.1999A>G, NR_125360.3:n.1959A>G, NR_125360.2:n.2001A>G, NR_125360.1:n.1873A>G, NR_144946.2:n.2394A>G, NR_144946.1:n.2436A>G, NM_001347937.2:c.1999A>G, NM_001347937.1:c.1999A>G, NM_001278393.2:c.1999A>G, NM_001278393.1:c.1999A>G, NR_144948.2:n.2237A>G, NR_144948.1:n.2279A>G, NM_001347936.2:c.1999A>G, NM_001347936.1:c.1999A>G, NR_144944.2:n.2150A>G, NR_144944.1:n.2192A>G, NR_144945.2:n.1992A>G, NR_144945.1:n.2034A>G, NR_144947.2:n.1796A>G, NR_144947.1:n.1838A>G, XM_011538805.3:c.2092A>G, XM_011538805.2:c.2092A>G, XM_011538805.1:c.2092A>G, XM_011538804.3:c.2092A>G, XM_011538804.2:c.2092A>G, XM_011538804.1:c.2092A>G, XM_011538800.3:c.2092A>G, XM_011538800.2:c.2092A>G, XM_011538800.1:c.2092A>G, XM_005269173.2:c.2092A>G, XM_005269173.1:c.2092A>G, XM_005269172.2:c.2092A>G, XM_005269172.1:c.2092A>G, XM_011538802.2:c.2092A>G, XM_011538802.1:c.2092A>G, XM_011538801.2:c.2092A>G, XM_011538801.1:c.2092A>G, XM_005269174.2:c.2092A>G, XM_005269174.1:c.2092A>G, XM_047429644.1:c.1999A>G, XM_047429643.1:c.1999A>G, XM_047429645.1:c.1999A>G, XM_011538803.1:c.2092A>G, XM_047429642.1:c.1999A>G, NP_115523.2:p.Lys667Glu, NP_001035862.1:p.Lys667Glu, NP_001334866.1:p.Lys667Glu, NP_001265322.1:p.Lys667Glu, NP_001334865.1:p.Lys667Glu, XP_011537107.1:p.Lys698Glu, XP_011537106.1:p.Lys698Glu, XP_011537102.1:p.Lys698Glu, XP_005269230.1:p.Lys698Glu, XP_005269229.1:p.Lys698Glu, XP_011537104.1:p.Lys698Glu, XP_011537103.1:p.Lys698Glu, XP_005269231.1:p.Lys698Glu, XP_047285600.1:p.Lys667Glu, XP_047285599.1:p.Lys667Glu, XP_047285601.1:p.Lys667Glu, XP_011537105.1:p.Lys698Glu, XP_047285598.1:p.Lys667Glu

        4.

        rs1485230704 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          12:95533110 (GRCh38)
          12:95926886 (GRCh37)
          Canonical SPDI:
          NC_000012.12:95533109:G:T
          Gene:
          USP44 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.95533110G>T, NC_000012.11:g.95926886G>T, NG_052622.1:g.23420C>A, NM_032147.5:c.1147C>A, NM_032147.4:c.1147C>A, NM_032147.3:c.1147C>A, NM_001042403.3:c.1147C>A, NM_001042403.2:c.1147C>A, NR_125360.3:n.1303C>A, NR_125360.2:n.1345C>A, NR_125360.1:n.1217C>A, NR_144946.2:n.1249C>A, NR_144946.1:n.1291C>A, NM_001347937.2:c.1147C>A, NM_001347937.1:c.1147C>A, NM_001278393.2:c.1147C>A, NM_001278393.1:c.1147C>A, NR_144948.2:n.1494C>A, NR_144948.1:n.1536C>A, NM_001347936.2:c.1147C>A, NM_001347936.1:c.1147C>A, NR_144944.2:n.1494C>A, NR_144944.1:n.1536C>A, NR_144945.2:n.1249C>A, NR_144945.1:n.1291C>A, NR_144947.2:n.1249C>A, NR_144947.1:n.1291C>A, XM_011538805.3:c.1147C>A, XM_011538805.2:c.1147C>A, XM_011538805.1:c.1147C>A, XM_011538804.3:c.1147C>A, XM_011538804.2:c.1147C>A, XM_011538804.1:c.1147C>A, XM_011538800.3:c.1147C>A, XM_011538800.2:c.1147C>A, XM_011538800.1:c.1147C>A, XM_011538806.3:c.1147C>A, XM_011538806.2:c.1147C>A, XM_011538806.1:c.1147C>A, XM_005269173.2:c.1147C>A, XM_005269173.1:c.1147C>A, XM_005269172.2:c.1147C>A, XM_005269172.1:c.1147C>A, XM_011538802.2:c.1147C>A, XM_011538802.1:c.1147C>A, XM_011538801.2:c.1147C>A, XM_011538801.1:c.1147C>A, XM_005269174.2:c.1147C>A, XM_005269174.1:c.1147C>A, XR_944757.2:n.1422C>A, XR_944757.1:n.1430C>A, XM_047429644.1:c.1147C>A, XM_047429643.1:c.1147C>A, XM_047429645.1:c.1147C>A, XM_011538803.1:c.1147C>A, XM_047429642.1:c.1147C>A, XM_047429646.1:c.1147C>A, XM_047429647.1:c.1147C>A, NP_115523.2:p.His383Asn, NP_001035862.1:p.His383Asn, NP_001334866.1:p.His383Asn, NP_001265322.1:p.His383Asn, NP_001334865.1:p.His383Asn, XP_011537107.1:p.His383Asn, XP_011537106.1:p.His383Asn, XP_011537102.1:p.His383Asn, XP_011537108.1:p.His383Asn, XP_005269230.1:p.His383Asn, XP_005269229.1:p.His383Asn, XP_011537104.1:p.His383Asn, XP_011537103.1:p.His383Asn, XP_005269231.1:p.His383Asn, XP_047285600.1:p.His383Asn, XP_047285599.1:p.His383Asn, XP_047285601.1:p.His383Asn, XP_011537105.1:p.His383Asn, XP_047285598.1:p.His383Asn, XP_047285602.1:p.His383Asn, XP_047285603.1:p.His383Asn

          5.

          rs1484780567 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            12:95528831 (GRCh38)
            12:95922607 (GRCh37)
            Canonical SPDI:
            NC_000012.12:95528830:TTTTT:TTTT
            Gene:
            USP44 (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTT=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.95528835del, NC_000012.11:g.95922611del, NG_052622.1:g.27699del, NM_032147.5:c.1600del, NM_032147.4:c.1600del, NM_032147.3:c.1600del, NM_001042403.3:c.1600del, NM_001042403.2:c.1600del, NR_144946.2:n.1702del, NR_144946.1:n.1744del, NM_001347937.2:c.1600del, NM_001347937.1:c.1600del, NM_001278393.2:c.1600del, NM_001278393.1:c.1600del, NR_144948.2:n.1947del, NR_144948.1:n.1989del, NM_001347936.2:c.1600del, NM_001347936.1:c.1600del, NR_144945.2:n.1702del, NR_144945.1:n.1744del, XM_011538805.3:c.1600del, XM_011538805.2:c.1600del, XM_011538805.1:c.1600del, XM_011538804.3:c.1600del, XM_011538804.2:c.1600del, XM_011538804.1:c.1600del, XM_011538800.3:c.1600del, XM_011538800.2:c.1600del, XM_011538800.1:c.1600del, XM_005269173.2:c.1600del, XM_005269173.1:c.1600del, XM_005269172.2:c.1600del, XM_005269172.1:c.1600del, XM_011538802.2:c.1600del, XM_011538802.1:c.1600del, XM_011538801.2:c.1600del, XM_011538801.1:c.1600del, XM_005269174.2:c.1600del, XM_005269174.1:c.1600del, XR_944757.2:n.1875del, XR_944757.1:n.1883del, XM_047429644.1:c.1600del, XM_047429643.1:c.1600del, XM_047429645.1:c.1600del, XM_011538803.1:c.1600del, XM_047429642.1:c.1600del, NP_115523.2:p.Ile534fs, NP_001035862.1:p.Ile534fs, NP_001334866.1:p.Ile534fs, NP_001265322.1:p.Ile534fs, NP_001334865.1:p.Ile534fs, XP_011537107.1:p.Ile534fs, XP_011537106.1:p.Ile534fs, XP_011537102.1:p.Ile534fs, XP_005269230.1:p.Ile534fs, XP_005269229.1:p.Ile534fs, XP_011537104.1:p.Ile534fs, XP_011537103.1:p.Ile534fs, XP_005269231.1:p.Ile534fs, XP_047285600.1:p.Ile534fs, XP_047285599.1:p.Ile534fs, XP_047285601.1:p.Ile534fs, XP_011537105.1:p.Ile534fs, XP_047285598.1:p.Ile534fs

            6.

            rs1484712108 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              12:95532862 (GRCh38)
              12:95926638 (GRCh37)
              Canonical SPDI:
              NC_000012.12:95532861:T:C,NC_000012.12:95532861:T:G
              Gene:
              USP44 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000012.12:g.95532862T>C, NC_000012.12:g.95532862T>G, NC_000012.11:g.95926638T>C, NC_000012.11:g.95926638T>G, NG_052622.1:g.23668A>G, NG_052622.1:g.23668A>C, NM_032147.5:c.1395A>G, NM_032147.5:c.1395A>C, NM_032147.4:c.1395A>G, NM_032147.4:c.1395A>C, NM_032147.3:c.1395A>G, NM_032147.3:c.1395A>C, NM_001042403.3:c.1395A>G, NM_001042403.3:c.1395A>C, NM_001042403.2:c.1395A>G, NM_001042403.2:c.1395A>C, NR_125360.3:n.1551A>G, NR_125360.3:n.1551A>C, NR_125360.2:n.1593A>G, NR_125360.2:n.1593A>C, NR_125360.1:n.1465A>G, NR_125360.1:n.1465A>C, NR_144946.2:n.1497A>G, NR_144946.2:n.1497A>C, NR_144946.1:n.1539A>G, NR_144946.1:n.1539A>C, NM_001347937.2:c.1395A>G, NM_001347937.2:c.1395A>C, NM_001347937.1:c.1395A>G, NM_001347937.1:c.1395A>C, NM_001278393.2:c.1395A>G, NM_001278393.2:c.1395A>C, NM_001278393.1:c.1395A>G, NM_001278393.1:c.1395A>C, NR_144948.2:n.1742A>G, NR_144948.2:n.1742A>C, NR_144948.1:n.1784A>G, NR_144948.1:n.1784A>C, NM_001347936.2:c.1395A>G, NM_001347936.2:c.1395A>C, NM_001347936.1:c.1395A>G, NM_001347936.1:c.1395A>C, NR_144944.2:n.1742A>G, NR_144944.2:n.1742A>C, NR_144944.1:n.1784A>G, NR_144944.1:n.1784A>C, NR_144945.2:n.1497A>G, NR_144945.2:n.1497A>C, NR_144945.1:n.1539A>G, NR_144945.1:n.1539A>C, NR_144947.2:n.1497A>G, NR_144947.2:n.1497A>C, NR_144947.1:n.1539A>G, NR_144947.1:n.1539A>C, XM_011538805.3:c.1395A>G, XM_011538805.3:c.1395A>C, XM_011538805.2:c.1395A>G, XM_011538805.2:c.1395A>C, XM_011538805.1:c.1395A>G, XM_011538805.1:c.1395A>C, XM_011538804.3:c.1395A>G, XM_011538804.3:c.1395A>C, XM_011538804.2:c.1395A>G, XM_011538804.2:c.1395A>C, XM_011538804.1:c.1395A>G, XM_011538804.1:c.1395A>C, XM_011538800.3:c.1395A>G, XM_011538800.3:c.1395A>C, XM_011538800.2:c.1395A>G, XM_011538800.2:c.1395A>C, XM_011538800.1:c.1395A>G, XM_011538800.1:c.1395A>C, XM_011538806.3:c.1395A>G, XM_011538806.3:c.1395A>C, XM_011538806.2:c.1395A>G, XM_011538806.2:c.1395A>C, XM_011538806.1:c.1395A>G, XM_011538806.1:c.1395A>C, XM_005269173.2:c.1395A>G, XM_005269173.2:c.1395A>C, XM_005269173.1:c.1395A>G, XM_005269173.1:c.1395A>C, XM_005269172.2:c.1395A>G, XM_005269172.2:c.1395A>C, XM_005269172.1:c.1395A>G, XM_005269172.1:c.1395A>C, XM_011538802.2:c.1395A>G, XM_011538802.2:c.1395A>C, XM_011538802.1:c.1395A>G, XM_011538802.1:c.1395A>C, XM_011538801.2:c.1395A>G, XM_011538801.2:c.1395A>C, XM_011538801.1:c.1395A>G, XM_011538801.1:c.1395A>C, XM_005269174.2:c.1395A>G, XM_005269174.2:c.1395A>C, XM_005269174.1:c.1395A>G, XM_005269174.1:c.1395A>C, XR_944757.2:n.1670A>G, XR_944757.2:n.1670A>C, XR_944757.1:n.1678A>G, XR_944757.1:n.1678A>C, XM_047429644.1:c.1395A>G, XM_047429644.1:c.1395A>C, XM_047429643.1:c.1395A>G, XM_047429643.1:c.1395A>C, XM_047429645.1:c.1395A>G, XM_047429645.1:c.1395A>C, XM_011538803.1:c.1395A>G, XM_011538803.1:c.1395A>C, XM_047429642.1:c.1395A>G, XM_047429642.1:c.1395A>C, XM_047429646.1:c.1395A>G, XM_047429646.1:c.1395A>C, XM_047429647.1:c.1395A>G, XM_047429647.1:c.1395A>C

              7.

              rs1484004459 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:95533783 (GRCh38)
                12:95927559 (GRCh37)
                Canonical SPDI:
                NC_000012.12:95533782:C:T
                Gene:
                USP44 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000031/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.95533783C>T, NC_000012.11:g.95927559C>T, NG_052622.1:g.22747G>A, NM_032147.5:c.474G>A, NM_032147.4:c.474G>A, NM_032147.3:c.474G>A, NM_001042403.3:c.474G>A, NM_001042403.2:c.474G>A, NR_125360.3:n.630G>A, NR_125360.2:n.672G>A, NR_125360.1:n.544G>A, NR_144946.2:n.576G>A, NR_144946.1:n.618G>A, NM_001347937.2:c.474G>A, NM_001347937.1:c.474G>A, NM_001278393.2:c.474G>A, NM_001278393.1:c.474G>A, NR_144948.2:n.821G>A, NR_144948.1:n.863G>A, NM_001347936.2:c.474G>A, NM_001347936.1:c.474G>A, NR_144944.2:n.821G>A, NR_144944.1:n.863G>A, NR_144945.2:n.576G>A, NR_144945.1:n.618G>A, NR_144947.2:n.576G>A, NR_144947.1:n.618G>A, XM_011538805.3:c.474G>A, XM_011538805.2:c.474G>A, XM_011538805.1:c.474G>A, XM_011538804.3:c.474G>A, XM_011538804.2:c.474G>A, XM_011538804.1:c.474G>A, XM_011538800.3:c.474G>A, XM_011538800.2:c.474G>A, XM_011538800.1:c.474G>A, XM_011538806.3:c.474G>A, XM_011538806.2:c.474G>A, XM_011538806.1:c.474G>A, XM_005269173.2:c.474G>A, XM_005269173.1:c.474G>A, XM_005269172.2:c.474G>A, XM_005269172.1:c.474G>A, XM_011538802.2:c.474G>A, XM_011538802.1:c.474G>A, XM_011538801.2:c.474G>A, XM_011538801.1:c.474G>A, XM_005269174.2:c.474G>A, XM_005269174.1:c.474G>A, XR_944757.2:n.749G>A, XR_944757.1:n.757G>A, XM_047429644.1:c.474G>A, XM_047429643.1:c.474G>A, XM_047429645.1:c.474G>A, XM_011538803.1:c.474G>A, XM_047429642.1:c.474G>A, XM_047429646.1:c.474G>A, XM_047429647.1:c.474G>A, NP_115523.2:p.Met158Ile, NP_001035862.1:p.Met158Ile, NP_001334866.1:p.Met158Ile, NP_001265322.1:p.Met158Ile, NP_001334865.1:p.Met158Ile, XP_011537107.1:p.Met158Ile, XP_011537106.1:p.Met158Ile, XP_011537102.1:p.Met158Ile, XP_011537108.1:p.Met158Ile, XP_005269230.1:p.Met158Ile, XP_005269229.1:p.Met158Ile, XP_011537104.1:p.Met158Ile, XP_011537103.1:p.Met158Ile, XP_005269231.1:p.Met158Ile, XP_047285600.1:p.Met158Ile, XP_047285599.1:p.Met158Ile, XP_047285601.1:p.Met158Ile, XP_011537105.1:p.Met158Ile, XP_047285598.1:p.Met158Ile, XP_047285602.1:p.Met158Ile, XP_047285603.1:p.Met158Ile

                8.

                rs1482299832 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:95533303 (GRCh38)
                  12:95927079 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:95533302:T:C
                  Gene:
                  USP44 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.95533303T>C, NC_000012.11:g.95927079T>C, NG_052622.1:g.23227A>G, NM_032147.5:c.954A>G, NM_032147.4:c.954A>G, NM_032147.3:c.954A>G, NM_001042403.3:c.954A>G, NM_001042403.2:c.954A>G, NR_125360.3:n.1110A>G, NR_125360.2:n.1152A>G, NR_125360.1:n.1024A>G, NR_144946.2:n.1056A>G, NR_144946.1:n.1098A>G, NM_001347937.2:c.954A>G, NM_001347937.1:c.954A>G, NM_001278393.2:c.954A>G, NM_001278393.1:c.954A>G, NR_144948.2:n.1301A>G, NR_144948.1:n.1343A>G, NM_001347936.2:c.954A>G, NM_001347936.1:c.954A>G, NR_144944.2:n.1301A>G, NR_144944.1:n.1343A>G, NR_144945.2:n.1056A>G, NR_144945.1:n.1098A>G, NR_144947.2:n.1056A>G, NR_144947.1:n.1098A>G, XM_011538805.3:c.954A>G, XM_011538805.2:c.954A>G, XM_011538805.1:c.954A>G, XM_011538804.3:c.954A>G, XM_011538804.2:c.954A>G, XM_011538804.1:c.954A>G, XM_011538800.3:c.954A>G, XM_011538800.2:c.954A>G, XM_011538800.1:c.954A>G, XM_011538806.3:c.954A>G, XM_011538806.2:c.954A>G, XM_011538806.1:c.954A>G, XM_005269173.2:c.954A>G, XM_005269173.1:c.954A>G, XM_005269172.2:c.954A>G, XM_005269172.1:c.954A>G, XM_011538802.2:c.954A>G, XM_011538802.1:c.954A>G, XM_011538801.2:c.954A>G, XM_011538801.1:c.954A>G, XM_005269174.2:c.954A>G, XM_005269174.1:c.954A>G, XR_944757.2:n.1229A>G, XR_944757.1:n.1237A>G, XM_047429644.1:c.954A>G, XM_047429643.1:c.954A>G, XM_047429645.1:c.954A>G, XM_011538803.1:c.954A>G, XM_047429642.1:c.954A>G, XM_047429646.1:c.954A>G, XM_047429647.1:c.954A>G

                  9.

                  rs1479897349 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:95533602 (GRCh38)
                    12:95927378 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:95533601:G:A
                    Gene:
                    USP44 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.95533602G>A, NC_000012.11:g.95927378G>A, NG_052622.1:g.22928C>T, NM_032147.5:c.655C>T, NM_032147.4:c.655C>T, NM_032147.3:c.655C>T, NM_001042403.3:c.655C>T, NM_001042403.2:c.655C>T, NR_125360.3:n.811C>T, NR_125360.2:n.853C>T, NR_125360.1:n.725C>T, NR_144946.2:n.757C>T, NR_144946.1:n.799C>T, NM_001347937.2:c.655C>T, NM_001347937.1:c.655C>T, NM_001278393.2:c.655C>T, NM_001278393.1:c.655C>T, NR_144948.2:n.1002C>T, NR_144948.1:n.1044C>T, NM_001347936.2:c.655C>T, NM_001347936.1:c.655C>T, NR_144944.2:n.1002C>T, NR_144944.1:n.1044C>T, NR_144945.2:n.757C>T, NR_144945.1:n.799C>T, NR_144947.2:n.757C>T, NR_144947.1:n.799C>T, XM_011538805.3:c.655C>T, XM_011538805.2:c.655C>T, XM_011538805.1:c.655C>T, XM_011538804.3:c.655C>T, XM_011538804.2:c.655C>T, XM_011538804.1:c.655C>T, XM_011538800.3:c.655C>T, XM_011538800.2:c.655C>T, XM_011538800.1:c.655C>T, XM_011538806.3:c.655C>T, XM_011538806.2:c.655C>T, XM_011538806.1:c.655C>T, XM_005269173.2:c.655C>T, XM_005269173.1:c.655C>T, XM_005269172.2:c.655C>T, XM_005269172.1:c.655C>T, XM_011538802.2:c.655C>T, XM_011538802.1:c.655C>T, XM_011538801.2:c.655C>T, XM_011538801.1:c.655C>T, XM_005269174.2:c.655C>T, XM_005269174.1:c.655C>T, XR_944757.2:n.930C>T, XR_944757.1:n.938C>T, XM_047429644.1:c.655C>T, XM_047429643.1:c.655C>T, XM_047429645.1:c.655C>T, XM_011538803.1:c.655C>T, XM_047429642.1:c.655C>T, XM_047429646.1:c.655C>T, XM_047429647.1:c.655C>T, NP_115523.2:p.Leu219Phe, NP_001035862.1:p.Leu219Phe, NP_001334866.1:p.Leu219Phe, NP_001265322.1:p.Leu219Phe, NP_001334865.1:p.Leu219Phe, XP_011537107.1:p.Leu219Phe, XP_011537106.1:p.Leu219Phe, XP_011537102.1:p.Leu219Phe, XP_011537108.1:p.Leu219Phe, XP_005269230.1:p.Leu219Phe, XP_005269229.1:p.Leu219Phe, XP_011537104.1:p.Leu219Phe, XP_011537103.1:p.Leu219Phe, XP_005269231.1:p.Leu219Phe, XP_047285600.1:p.Leu219Phe, XP_047285599.1:p.Leu219Phe, XP_047285601.1:p.Leu219Phe, XP_011537105.1:p.Leu219Phe, XP_047285598.1:p.Leu219Phe, XP_047285602.1:p.Leu219Phe, XP_047285603.1:p.Leu219Phe

                    10.

                    rs1477212495 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:95533620 (GRCh38)
                      12:95927396 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:95533619:T:C
                      Gene:
                      USP44 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.0003/1 (KOREAN)
                      HGVS:
                      NC_000012.12:g.95533620T>C, NC_000012.11:g.95927396T>C, NG_052622.1:g.22910A>G, NM_032147.5:c.637A>G, NM_032147.4:c.637A>G, NM_032147.3:c.637A>G, NM_001042403.3:c.637A>G, NM_001042403.2:c.637A>G, NR_125360.3:n.793A>G, NR_125360.2:n.835A>G, NR_125360.1:n.707A>G, NR_144946.2:n.739A>G, NR_144946.1:n.781A>G, NM_001347937.2:c.637A>G, NM_001347937.1:c.637A>G, NM_001278393.2:c.637A>G, NM_001278393.1:c.637A>G, NR_144948.2:n.984A>G, NR_144948.1:n.1026A>G, NM_001347936.2:c.637A>G, NM_001347936.1:c.637A>G, NR_144944.2:n.984A>G, NR_144944.1:n.1026A>G, NR_144945.2:n.739A>G, NR_144945.1:n.781A>G, NR_144947.2:n.739A>G, NR_144947.1:n.781A>G, XM_011538805.3:c.637A>G, XM_011538805.2:c.637A>G, XM_011538805.1:c.637A>G, XM_011538804.3:c.637A>G, XM_011538804.2:c.637A>G, XM_011538804.1:c.637A>G, XM_011538800.3:c.637A>G, XM_011538800.2:c.637A>G, XM_011538800.1:c.637A>G, XM_011538806.3:c.637A>G, XM_011538806.2:c.637A>G, XM_011538806.1:c.637A>G, XM_005269173.2:c.637A>G, XM_005269173.1:c.637A>G, XM_005269172.2:c.637A>G, XM_005269172.1:c.637A>G, XM_011538802.2:c.637A>G, XM_011538802.1:c.637A>G, XM_011538801.2:c.637A>G, XM_011538801.1:c.637A>G, XM_005269174.2:c.637A>G, XM_005269174.1:c.637A>G, XR_944757.2:n.912A>G, XR_944757.1:n.920A>G, XM_047429644.1:c.637A>G, XM_047429643.1:c.637A>G, XM_047429645.1:c.637A>G, XM_011538803.1:c.637A>G, XM_047429642.1:c.637A>G, XM_047429646.1:c.637A>G, XM_047429647.1:c.637A>G, NP_115523.2:p.Ser213Gly, NP_001035862.1:p.Ser213Gly, NP_001334866.1:p.Ser213Gly, NP_001265322.1:p.Ser213Gly, NP_001334865.1:p.Ser213Gly, XP_011537107.1:p.Ser213Gly, XP_011537106.1:p.Ser213Gly, XP_011537102.1:p.Ser213Gly, XP_011537108.1:p.Ser213Gly, XP_005269230.1:p.Ser213Gly, XP_005269229.1:p.Ser213Gly, XP_011537104.1:p.Ser213Gly, XP_011537103.1:p.Ser213Gly, XP_005269231.1:p.Ser213Gly, XP_047285600.1:p.Ser213Gly, XP_047285599.1:p.Ser213Gly, XP_047285601.1:p.Ser213Gly, XP_011537105.1:p.Ser213Gly, XP_047285598.1:p.Ser213Gly, XP_047285602.1:p.Ser213Gly, XP_047285603.1:p.Ser213Gly

                      11.

                      rs1475962239 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:95533149 (GRCh38)
                        12:95926925 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:95533148:G:A
                        Gene:
                        USP44 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,stop_gained
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000015/4 (TOPMED)
                        HGVS:
                        NC_000012.12:g.95533149G>A, NC_000012.11:g.95926925G>A, NG_052622.1:g.23381C>T, NM_032147.5:c.1108C>T, NM_032147.4:c.1108C>T, NM_032147.3:c.1108C>T, NM_001042403.3:c.1108C>T, NM_001042403.2:c.1108C>T, NR_125360.3:n.1264C>T, NR_125360.2:n.1306C>T, NR_125360.1:n.1178C>T, NR_144946.2:n.1210C>T, NR_144946.1:n.1252C>T, NM_001347937.2:c.1108C>T, NM_001347937.1:c.1108C>T, NM_001278393.2:c.1108C>T, NM_001278393.1:c.1108C>T, NR_144948.2:n.1455C>T, NR_144948.1:n.1497C>T, NM_001347936.2:c.1108C>T, NM_001347936.1:c.1108C>T, NR_144944.2:n.1455C>T, NR_144944.1:n.1497C>T, NR_144945.2:n.1210C>T, NR_144945.1:n.1252C>T, NR_144947.2:n.1210C>T, NR_144947.1:n.1252C>T, XM_011538805.3:c.1108C>T, XM_011538805.2:c.1108C>T, XM_011538805.1:c.1108C>T, XM_011538804.3:c.1108C>T, XM_011538804.2:c.1108C>T, XM_011538804.1:c.1108C>T, XM_011538800.3:c.1108C>T, XM_011538800.2:c.1108C>T, XM_011538800.1:c.1108C>T, XM_011538806.3:c.1108C>T, XM_011538806.2:c.1108C>T, XM_011538806.1:c.1108C>T, XM_005269173.2:c.1108C>T, XM_005269173.1:c.1108C>T, XM_005269172.2:c.1108C>T, XM_005269172.1:c.1108C>T, XM_011538802.2:c.1108C>T, XM_011538802.1:c.1108C>T, XM_011538801.2:c.1108C>T, XM_011538801.1:c.1108C>T, XM_005269174.2:c.1108C>T, XM_005269174.1:c.1108C>T, XR_944757.2:n.1383C>T, XR_944757.1:n.1391C>T, XM_047429644.1:c.1108C>T, XM_047429643.1:c.1108C>T, XM_047429645.1:c.1108C>T, XM_011538803.1:c.1108C>T, XM_047429642.1:c.1108C>T, XM_047429646.1:c.1108C>T, XM_047429647.1:c.1108C>T, NP_115523.2:p.Gln370Ter, NP_001035862.1:p.Gln370Ter, NP_001334866.1:p.Gln370Ter, NP_001265322.1:p.Gln370Ter, NP_001334865.1:p.Gln370Ter, XP_011537107.1:p.Gln370Ter, XP_011537106.1:p.Gln370Ter, XP_011537102.1:p.Gln370Ter, XP_011537108.1:p.Gln370Ter, XP_005269230.1:p.Gln370Ter, XP_005269229.1:p.Gln370Ter, XP_011537104.1:p.Gln370Ter, XP_011537103.1:p.Gln370Ter, XP_005269231.1:p.Gln370Ter, XP_047285600.1:p.Gln370Ter, XP_047285599.1:p.Gln370Ter, XP_047285601.1:p.Gln370Ter, XP_011537105.1:p.Gln370Ter, XP_047285598.1:p.Gln370Ter, XP_047285602.1:p.Gln370Ter, XP_047285603.1:p.Gln370Ter

                        12.

                        rs1475773119 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          12:95518226 (GRCh38)
                          12:95912002 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:95518225:A:C
                          Gene:
                          USP44 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.95518226A>C, NC_000012.11:g.95912002A>C, NG_052622.1:g.38304T>G, NM_032147.5:c.2067T>G, NM_032147.4:c.2067T>G, NM_032147.3:c.2067T>G, NM_001042403.3:c.2067T>G, NM_001042403.2:c.2067T>G, NR_125360.3:n.2027T>G, NR_125360.2:n.2069T>G, NR_125360.1:n.1941T>G, NR_144946.2:n.2462T>G, NR_144946.1:n.2504T>G, NM_001347937.2:c.2067T>G, NM_001347937.1:c.2067T>G, NM_001278393.2:c.2067T>G, NM_001278393.1:c.2067T>G, NR_144948.2:n.2305T>G, NR_144948.1:n.2347T>G, NM_001347936.2:c.2067T>G, NM_001347936.1:c.2067T>G, NR_144944.2:n.2218T>G, NR_144944.1:n.2260T>G, NR_144945.2:n.2060T>G, NR_144945.1:n.2102T>G, NR_144947.2:n.1864T>G, NR_144947.1:n.1906T>G, XM_011538805.3:c.2160T>G, XM_011538805.2:c.2160T>G, XM_011538805.1:c.2160T>G, XM_011538804.3:c.2160T>G, XM_011538804.2:c.2160T>G, XM_011538804.1:c.2160T>G, XM_011538800.3:c.2160T>G, XM_011538800.2:c.2160T>G, XM_011538800.1:c.2160T>G, XM_005269173.2:c.2160T>G, XM_005269173.1:c.2160T>G, XM_005269172.2:c.2160T>G, XM_005269172.1:c.2160T>G, XM_011538802.2:c.2160T>G, XM_011538802.1:c.2160T>G, XM_011538801.2:c.2160T>G, XM_011538801.1:c.2160T>G, XM_005269174.2:c.2160T>G, XM_005269174.1:c.2160T>G, XM_047429644.1:c.2067T>G, XM_047429643.1:c.2067T>G, XM_047429645.1:c.2067T>G, XM_011538803.1:c.2160T>G, XM_047429642.1:c.2067T>G

                          13.

                          rs1474897349 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            12:95533323 (GRCh38)
                            12:95927099 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:95533322:T:A,NC_000012.12:95533322:T:C
                            Gene:
                            USP44 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000012.12:g.95533323T>A, NC_000012.12:g.95533323T>C, NC_000012.11:g.95927099T>A, NC_000012.11:g.95927099T>C, NG_052622.1:g.23207A>T, NG_052622.1:g.23207A>G, NM_032147.5:c.934A>T, NM_032147.5:c.934A>G, NM_032147.4:c.934A>T, NM_032147.4:c.934A>G, NM_032147.3:c.934A>T, NM_032147.3:c.934A>G, NM_001042403.3:c.934A>T, NM_001042403.3:c.934A>G, NM_001042403.2:c.934A>T, NM_001042403.2:c.934A>G, NR_125360.3:n.1090A>T, NR_125360.3:n.1090A>G, NR_125360.2:n.1132A>T, NR_125360.2:n.1132A>G, NR_125360.1:n.1004A>T, NR_125360.1:n.1004A>G, NR_144946.2:n.1036A>T, NR_144946.2:n.1036A>G, NR_144946.1:n.1078A>T, NR_144946.1:n.1078A>G, NM_001347937.2:c.934A>T, NM_001347937.2:c.934A>G, NM_001347937.1:c.934A>T, NM_001347937.1:c.934A>G, NM_001278393.2:c.934A>T, NM_001278393.2:c.934A>G, NM_001278393.1:c.934A>T, NM_001278393.1:c.934A>G, NR_144948.2:n.1281A>T, NR_144948.2:n.1281A>G, NR_144948.1:n.1323A>T, NR_144948.1:n.1323A>G, NM_001347936.2:c.934A>T, NM_001347936.2:c.934A>G, NM_001347936.1:c.934A>T, NM_001347936.1:c.934A>G, NR_144944.2:n.1281A>T, NR_144944.2:n.1281A>G, NR_144944.1:n.1323A>T, NR_144944.1:n.1323A>G, NR_144945.2:n.1036A>T, NR_144945.2:n.1036A>G, NR_144945.1:n.1078A>T, NR_144945.1:n.1078A>G, NR_144947.2:n.1036A>T, NR_144947.2:n.1036A>G, NR_144947.1:n.1078A>T, NR_144947.1:n.1078A>G, XM_011538805.3:c.934A>T, XM_011538805.3:c.934A>G, XM_011538805.2:c.934A>T, XM_011538805.2:c.934A>G, XM_011538805.1:c.934A>T, XM_011538805.1:c.934A>G, XM_011538804.3:c.934A>T, XM_011538804.3:c.934A>G, XM_011538804.2:c.934A>T, XM_011538804.2:c.934A>G, XM_011538804.1:c.934A>T, XM_011538804.1:c.934A>G, XM_011538800.3:c.934A>T, XM_011538800.3:c.934A>G, XM_011538800.2:c.934A>T, XM_011538800.2:c.934A>G, XM_011538800.1:c.934A>T, XM_011538800.1:c.934A>G, XM_011538806.3:c.934A>T, XM_011538806.3:c.934A>G, XM_011538806.2:c.934A>T, XM_011538806.2:c.934A>G, XM_011538806.1:c.934A>T, XM_011538806.1:c.934A>G, XM_005269173.2:c.934A>T, XM_005269173.2:c.934A>G, XM_005269173.1:c.934A>T, XM_005269173.1:c.934A>G, XM_005269172.2:c.934A>T, XM_005269172.2:c.934A>G, XM_005269172.1:c.934A>T, XM_005269172.1:c.934A>G, XM_011538802.2:c.934A>T, XM_011538802.2:c.934A>G, XM_011538802.1:c.934A>T, XM_011538802.1:c.934A>G, XM_011538801.2:c.934A>T, XM_011538801.2:c.934A>G, XM_011538801.1:c.934A>T, XM_011538801.1:c.934A>G, XM_005269174.2:c.934A>T, XM_005269174.2:c.934A>G, XM_005269174.1:c.934A>T, XM_005269174.1:c.934A>G, XR_944757.2:n.1209A>T, XR_944757.2:n.1209A>G, XR_944757.1:n.1217A>T, XR_944757.1:n.1217A>G, XM_047429644.1:c.934A>T, XM_047429644.1:c.934A>G, XM_047429643.1:c.934A>T, XM_047429643.1:c.934A>G, XM_047429645.1:c.934A>T, XM_047429645.1:c.934A>G, XM_011538803.1:c.934A>T, XM_011538803.1:c.934A>G, XM_047429642.1:c.934A>T, XM_047429642.1:c.934A>G, XM_047429646.1:c.934A>T, XM_047429646.1:c.934A>G, XM_047429647.1:c.934A>T, XM_047429647.1:c.934A>G, NP_115523.2:p.Met312Leu, NP_115523.2:p.Met312Val, NP_001035862.1:p.Met312Leu, NP_001035862.1:p.Met312Val, NP_001334866.1:p.Met312Leu, NP_001334866.1:p.Met312Val, NP_001265322.1:p.Met312Leu, NP_001265322.1:p.Met312Val, NP_001334865.1:p.Met312Leu, NP_001334865.1:p.Met312Val, XP_011537107.1:p.Met312Leu, XP_011537107.1:p.Met312Val, XP_011537106.1:p.Met312Leu, XP_011537106.1:p.Met312Val, XP_011537102.1:p.Met312Leu, XP_011537102.1:p.Met312Val, XP_011537108.1:p.Met312Leu, XP_011537108.1:p.Met312Val, XP_005269230.1:p.Met312Leu, XP_005269230.1:p.Met312Val, XP_005269229.1:p.Met312Leu, XP_005269229.1:p.Met312Val, XP_011537104.1:p.Met312Leu, XP_011537104.1:p.Met312Val, XP_011537103.1:p.Met312Leu, XP_011537103.1:p.Met312Val, XP_005269231.1:p.Met312Leu, XP_005269231.1:p.Met312Val, XP_047285600.1:p.Met312Leu, XP_047285600.1:p.Met312Val, XP_047285599.1:p.Met312Leu, XP_047285599.1:p.Met312Val, XP_047285601.1:p.Met312Leu, XP_047285601.1:p.Met312Val, XP_011537105.1:p.Met312Leu, XP_011537105.1:p.Met312Val, XP_047285598.1:p.Met312Leu, XP_047285598.1:p.Met312Val, XP_047285602.1:p.Met312Leu, XP_047285602.1:p.Met312Val, XP_047285603.1:p.Met312Leu, XP_047285603.1:p.Met312Val

                            14.

                            rs1474141572 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              12:95521183 (GRCh38)
                              12:95914959 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:95521182:G:A,NC_000012.12:95521182:G:C
                              Gene:
                              USP44 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000012.12:g.95521183G>A, NC_000012.12:g.95521183G>C, NC_000012.11:g.95914959G>A, NC_000012.11:g.95914959G>C, NG_052622.1:g.35347C>T, NG_052622.1:g.35347C>G, NM_032147.5:c.1753C>T, NM_032147.5:c.1753C>G, NM_032147.4:c.1753C>T, NM_032147.4:c.1753C>G, NM_032147.3:c.1753C>T, NM_032147.3:c.1753C>G, NM_001042403.3:c.1753C>T, NM_001042403.3:c.1753C>G, NM_001042403.2:c.1753C>T, NM_001042403.2:c.1753C>G, NR_125360.3:n.1713C>T, NR_125360.3:n.1713C>G, NR_125360.2:n.1755C>T, NR_125360.2:n.1755C>G, NR_125360.1:n.1627C>T, NR_125360.1:n.1627C>G, NR_144946.2:n.2148C>T, NR_144946.2:n.2148C>G, NR_144946.1:n.2190C>T, NR_144946.1:n.2190C>G, NM_001347937.2:c.1753C>T, NM_001347937.2:c.1753C>G, NM_001347937.1:c.1753C>T, NM_001347937.1:c.1753C>G, NM_001278393.2:c.1753C>T, NM_001278393.2:c.1753C>G, NM_001278393.1:c.1753C>T, NM_001278393.1:c.1753C>G, NR_144948.2:n.1991C>T, NR_144948.2:n.1991C>G, NR_144948.1:n.2033C>T, NR_144948.1:n.2033C>G, NM_001347936.2:c.1753C>T, NM_001347936.2:c.1753C>G, NM_001347936.1:c.1753C>T, NM_001347936.1:c.1753C>G, NR_144944.2:n.1904C>T, NR_144944.2:n.1904C>G, NR_144944.1:n.1946C>T, NR_144944.1:n.1946C>G, NR_144945.2:n.1746C>T, NR_144945.2:n.1746C>G, NR_144945.1:n.1788C>T, NR_144945.1:n.1788C>G, NR_144947.2:n.1550C>T, NR_144947.2:n.1550C>G, NR_144947.1:n.1592C>T, NR_144947.1:n.1592C>G, XM_011538805.3:c.1846C>T, XM_011538805.3:c.1846C>G, XM_011538805.2:c.1846C>T, XM_011538805.2:c.1846C>G, XM_011538805.1:c.1846C>T, XM_011538805.1:c.1846C>G, XM_011538804.3:c.1846C>T, XM_011538804.3:c.1846C>G, XM_011538804.2:c.1846C>T, XM_011538804.2:c.1846C>G, XM_011538804.1:c.1846C>T, XM_011538804.1:c.1846C>G, XM_011538800.3:c.1846C>T, XM_011538800.3:c.1846C>G, XM_011538800.2:c.1846C>T, XM_011538800.2:c.1846C>G, XM_011538800.1:c.1846C>T, XM_011538800.1:c.1846C>G, XM_005269173.2:c.1846C>T, XM_005269173.2:c.1846C>G, XM_005269173.1:c.1846C>T, XM_005269173.1:c.1846C>G, XM_005269172.2:c.1846C>T, XM_005269172.2:c.1846C>G, XM_005269172.1:c.1846C>T, XM_005269172.1:c.1846C>G, XM_011538802.2:c.1846C>T, XM_011538802.2:c.1846C>G, XM_011538802.1:c.1846C>T, XM_011538802.1:c.1846C>G, XM_011538801.2:c.1846C>T, XM_011538801.2:c.1846C>G, XM_011538801.1:c.1846C>T, XM_011538801.1:c.1846C>G, XM_005269174.2:c.1846C>T, XM_005269174.2:c.1846C>G, XM_005269174.1:c.1846C>T, XM_005269174.1:c.1846C>G, XR_944757.2:n.2321C>T, XR_944757.2:n.2321C>G, XR_944757.1:n.2329C>T, XR_944757.1:n.2329C>G, XM_047429644.1:c.1753C>T, XM_047429644.1:c.1753C>G, XM_047429643.1:c.1753C>T, XM_047429643.1:c.1753C>G, XM_047429645.1:c.1753C>T, XM_047429645.1:c.1753C>G, XM_011538803.1:c.1846C>T, XM_011538803.1:c.1846C>G, XM_047429642.1:c.1753C>T, XM_047429642.1:c.1753C>G, NP_115523.2:p.Arg585Ter, NP_115523.2:p.Arg585Gly, NP_001035862.1:p.Arg585Ter, NP_001035862.1:p.Arg585Gly, NP_001334866.1:p.Arg585Ter, NP_001334866.1:p.Arg585Gly, NP_001265322.1:p.Arg585Ter, NP_001265322.1:p.Arg585Gly, NP_001334865.1:p.Arg585Ter, NP_001334865.1:p.Arg585Gly, XP_011537107.1:p.Arg616Ter, XP_011537107.1:p.Arg616Gly, XP_011537106.1:p.Arg616Ter, XP_011537106.1:p.Arg616Gly, XP_011537102.1:p.Arg616Ter, XP_011537102.1:p.Arg616Gly, XP_005269230.1:p.Arg616Ter, XP_005269230.1:p.Arg616Gly, XP_005269229.1:p.Arg616Ter, XP_005269229.1:p.Arg616Gly, XP_011537104.1:p.Arg616Ter, XP_011537104.1:p.Arg616Gly, XP_011537103.1:p.Arg616Ter, XP_011537103.1:p.Arg616Gly, XP_005269231.1:p.Arg616Ter, XP_005269231.1:p.Arg616Gly, XP_047285600.1:p.Arg585Ter, XP_047285600.1:p.Arg585Gly, XP_047285599.1:p.Arg585Ter, XP_047285599.1:p.Arg585Gly, XP_047285601.1:p.Arg585Ter, XP_047285601.1:p.Arg585Gly, XP_011537105.1:p.Arg616Ter, XP_011537105.1:p.Arg616Gly, XP_047285598.1:p.Arg585Ter, XP_047285598.1:p.Arg585Gly

                              15.

                              rs1473190250 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:95533439 (GRCh38)
                                12:95927215 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:95533438:G:A
                                Gene:
                                USP44 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000111/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.95533439G>A, NC_000012.11:g.95927215G>A, NG_052622.1:g.23091C>T, NM_032147.5:c.818C>T, NM_032147.4:c.818C>T, NM_032147.3:c.818C>T, NM_001042403.3:c.818C>T, NM_001042403.2:c.818C>T, NR_125360.3:n.974C>T, NR_125360.2:n.1016C>T, NR_125360.1:n.888C>T, NR_144946.2:n.920C>T, NR_144946.1:n.962C>T, NM_001347937.2:c.818C>T, NM_001347937.1:c.818C>T, NM_001278393.2:c.818C>T, NM_001278393.1:c.818C>T, NR_144948.2:n.1165C>T, NR_144948.1:n.1207C>T, NM_001347936.2:c.818C>T, NM_001347936.1:c.818C>T, NR_144944.2:n.1165C>T, NR_144944.1:n.1207C>T, NR_144945.2:n.920C>T, NR_144945.1:n.962C>T, NR_144947.2:n.920C>T, NR_144947.1:n.962C>T, XM_011538805.3:c.818C>T, XM_011538805.2:c.818C>T, XM_011538805.1:c.818C>T, XM_011538804.3:c.818C>T, XM_011538804.2:c.818C>T, XM_011538804.1:c.818C>T, XM_011538800.3:c.818C>T, XM_011538800.2:c.818C>T, XM_011538800.1:c.818C>T, XM_011538806.3:c.818C>T, XM_011538806.2:c.818C>T, XM_011538806.1:c.818C>T, XM_005269173.2:c.818C>T, XM_005269173.1:c.818C>T, XM_005269172.2:c.818C>T, XM_005269172.1:c.818C>T, XM_011538802.2:c.818C>T, XM_011538802.1:c.818C>T, XM_011538801.2:c.818C>T, XM_011538801.1:c.818C>T, XM_005269174.2:c.818C>T, XM_005269174.1:c.818C>T, XR_944757.2:n.1093C>T, XR_944757.1:n.1101C>T, XM_047429644.1:c.818C>T, XM_047429643.1:c.818C>T, XM_047429645.1:c.818C>T, XM_011538803.1:c.818C>T, XM_047429642.1:c.818C>T, XM_047429646.1:c.818C>T, XM_047429647.1:c.818C>T, NP_115523.2:p.Thr273Ile, NP_001035862.1:p.Thr273Ile, NP_001334866.1:p.Thr273Ile, NP_001265322.1:p.Thr273Ile, NP_001334865.1:p.Thr273Ile, XP_011537107.1:p.Thr273Ile, XP_011537106.1:p.Thr273Ile, XP_011537102.1:p.Thr273Ile, XP_011537108.1:p.Thr273Ile, XP_005269230.1:p.Thr273Ile, XP_005269229.1:p.Thr273Ile, XP_011537104.1:p.Thr273Ile, XP_011537103.1:p.Thr273Ile, XP_005269231.1:p.Thr273Ile, XP_047285600.1:p.Thr273Ile, XP_047285599.1:p.Thr273Ile, XP_047285601.1:p.Thr273Ile, XP_011537105.1:p.Thr273Ile, XP_047285598.1:p.Thr273Ile, XP_047285602.1:p.Thr273Ile, XP_047285603.1:p.Thr273Ile

                                16.

                                rs1471887594 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TCTG>- [Show Flanks]
                                  Chromosome:
                                  12:95533213 (GRCh38)
                                  12:95926989 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:95533210:TGTCTG:TG
                                  Gene:
                                  USP44 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  -=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.95533213_95533216del, NC_000012.11:g.95926989_95926992del, NG_052622.1:g.23316_23319del, NM_032147.5:c.1043_1046del, NM_032147.4:c.1043_1046del, NM_032147.3:c.1043_1046del, NM_001042403.3:c.1043_1046del, NM_001042403.2:c.1043_1046del, NR_125360.3:n.1199_1202del, NR_125360.2:n.1241_1244del, NR_125360.1:n.1113_1116del, NR_144946.2:n.1145_1148del, NR_144946.1:n.1187_1190del, NM_001347937.2:c.1043_1046del, NM_001347937.1:c.1043_1046del, NM_001278393.2:c.1043_1046del, NM_001278393.1:c.1043_1046del, NR_144948.2:n.1390_1393del, NR_144948.1:n.1432_1435del, NM_001347936.2:c.1043_1046del, NM_001347936.1:c.1043_1046del, NR_144944.2:n.1390_1393del, NR_144944.1:n.1432_1435del, NR_144945.2:n.1145_1148del, NR_144945.1:n.1187_1190del, NR_144947.2:n.1145_1148del, NR_144947.1:n.1187_1190del, XM_011538805.3:c.1043_1046del, XM_011538805.2:c.1043_1046del, XM_011538805.1:c.1043_1046del, XM_011538804.3:c.1043_1046del, XM_011538804.2:c.1043_1046del, XM_011538804.1:c.1043_1046del, XM_011538800.3:c.1043_1046del, XM_011538800.2:c.1043_1046del, XM_011538800.1:c.1043_1046del, XM_011538806.3:c.1043_1046del, XM_011538806.2:c.1043_1046del, XM_011538806.1:c.1043_1046del, XM_005269173.2:c.1043_1046del, XM_005269173.1:c.1043_1046del, XM_005269172.2:c.1043_1046del, XM_005269172.1:c.1043_1046del, XM_011538802.2:c.1043_1046del, XM_011538802.1:c.1043_1046del, XM_011538801.2:c.1043_1046del, XM_011538801.1:c.1043_1046del, XM_005269174.2:c.1043_1046del, XM_005269174.1:c.1043_1046del, XR_944757.2:n.1318_1321del, XR_944757.1:n.1326_1329del, XM_047429644.1:c.1043_1046del, XM_047429643.1:c.1043_1046del, XM_047429645.1:c.1043_1046del, XM_011538803.1:c.1043_1046del, XM_047429642.1:c.1043_1046del, XM_047429646.1:c.1043_1046del, XM_047429647.1:c.1043_1046del, NP_115523.2:p.Arg348fs, NP_001035862.1:p.Arg348fs, NP_001334866.1:p.Arg348fs, NP_001265322.1:p.Arg348fs, NP_001334865.1:p.Arg348fs, XP_011537107.1:p.Arg348fs, XP_011537106.1:p.Arg348fs, XP_011537102.1:p.Arg348fs, XP_011537108.1:p.Arg348fs, XP_005269230.1:p.Arg348fs, XP_005269229.1:p.Arg348fs, XP_011537104.1:p.Arg348fs, XP_011537103.1:p.Arg348fs, XP_005269231.1:p.Arg348fs, XP_047285600.1:p.Arg348fs, XP_047285599.1:p.Arg348fs, XP_047285601.1:p.Arg348fs, XP_011537105.1:p.Arg348fs, XP_047285598.1:p.Arg348fs, XP_047285602.1:p.Arg348fs, XP_047285603.1:p.Arg348fs

                                  17.

                                  rs1471847097 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:95533736 (GRCh38)
                                    12:95927512 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:95533735:T:C
                                    Gene:
                                    USP44 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.95533736T>C, NC_000012.11:g.95927512T>C, NG_052622.1:g.22794A>G, NM_032147.5:c.521A>G, NM_032147.4:c.521A>G, NM_032147.3:c.521A>G, NM_001042403.3:c.521A>G, NM_001042403.2:c.521A>G, NR_125360.3:n.677A>G, NR_125360.2:n.719A>G, NR_125360.1:n.591A>G, NR_144946.2:n.623A>G, NR_144946.1:n.665A>G, NM_001347937.2:c.521A>G, NM_001347937.1:c.521A>G, NM_001278393.2:c.521A>G, NM_001278393.1:c.521A>G, NR_144948.2:n.868A>G, NR_144948.1:n.910A>G, NM_001347936.2:c.521A>G, NM_001347936.1:c.521A>G, NR_144944.2:n.868A>G, NR_144944.1:n.910A>G, NR_144945.2:n.623A>G, NR_144945.1:n.665A>G, NR_144947.2:n.623A>G, NR_144947.1:n.665A>G, XM_011538805.3:c.521A>G, XM_011538805.2:c.521A>G, XM_011538805.1:c.521A>G, XM_011538804.3:c.521A>G, XM_011538804.2:c.521A>G, XM_011538804.1:c.521A>G, XM_011538800.3:c.521A>G, XM_011538800.2:c.521A>G, XM_011538800.1:c.521A>G, XM_011538806.3:c.521A>G, XM_011538806.2:c.521A>G, XM_011538806.1:c.521A>G, XM_005269173.2:c.521A>G, XM_005269173.1:c.521A>G, XM_005269172.2:c.521A>G, XM_005269172.1:c.521A>G, XM_011538802.2:c.521A>G, XM_011538802.1:c.521A>G, XM_011538801.2:c.521A>G, XM_011538801.1:c.521A>G, XM_005269174.2:c.521A>G, XM_005269174.1:c.521A>G, XR_944757.2:n.796A>G, XR_944757.1:n.804A>G, XM_047429644.1:c.521A>G, XM_047429643.1:c.521A>G, XM_047429645.1:c.521A>G, XM_011538803.1:c.521A>G, XM_047429642.1:c.521A>G, XM_047429646.1:c.521A>G, XM_047429647.1:c.521A>G, NP_115523.2:p.Lys174Arg, NP_001035862.1:p.Lys174Arg, NP_001334866.1:p.Lys174Arg, NP_001265322.1:p.Lys174Arg, NP_001334865.1:p.Lys174Arg, XP_011537107.1:p.Lys174Arg, XP_011537106.1:p.Lys174Arg, XP_011537102.1:p.Lys174Arg, XP_011537108.1:p.Lys174Arg, XP_005269230.1:p.Lys174Arg, XP_005269229.1:p.Lys174Arg, XP_011537104.1:p.Lys174Arg, XP_011537103.1:p.Lys174Arg, XP_005269231.1:p.Lys174Arg, XP_047285600.1:p.Lys174Arg, XP_047285599.1:p.Lys174Arg, XP_047285601.1:p.Lys174Arg, XP_011537105.1:p.Lys174Arg, XP_047285598.1:p.Lys174Arg, XP_047285602.1:p.Lys174Arg, XP_047285603.1:p.Lys174Arg

                                    18.

                                    rs1465864558 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:95534169 (GRCh38)
                                      12:95927945 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:95534168:C:T
                                      Gene:
                                      USP44 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.95534169C>T, NC_000012.11:g.95927945C>T, NG_052622.1:g.22361G>A, NM_032147.5:c.88G>A, NM_032147.4:c.88G>A, NM_032147.3:c.88G>A, NM_001042403.3:c.88G>A, NM_001042403.2:c.88G>A, NR_125360.3:n.244G>A, NR_125360.2:n.286G>A, NR_125360.1:n.158G>A, NR_144946.2:n.190G>A, NR_144946.1:n.232G>A, NM_001347937.2:c.88G>A, NM_001347937.1:c.88G>A, NM_001278393.2:c.88G>A, NM_001278393.1:c.88G>A, NR_144948.2:n.435G>A, NR_144948.1:n.477G>A, NM_001347936.2:c.88G>A, NM_001347936.1:c.88G>A, NR_144944.2:n.435G>A, NR_144944.1:n.477G>A, NR_144945.2:n.190G>A, NR_144945.1:n.232G>A, NR_144947.2:n.190G>A, NR_144947.1:n.232G>A, XM_011538805.3:c.88G>A, XM_011538805.2:c.88G>A, XM_011538805.1:c.88G>A, XM_011538804.3:c.88G>A, XM_011538804.2:c.88G>A, XM_011538804.1:c.88G>A, XM_011538800.3:c.88G>A, XM_011538800.2:c.88G>A, XM_011538800.1:c.88G>A, XM_011538806.3:c.88G>A, XM_011538806.2:c.88G>A, XM_011538806.1:c.88G>A, XM_005269173.2:c.88G>A, XM_005269173.1:c.88G>A, XM_005269172.2:c.88G>A, XM_005269172.1:c.88G>A, XM_011538802.2:c.88G>A, XM_011538802.1:c.88G>A, XM_011538801.2:c.88G>A, XM_011538801.1:c.88G>A, XM_005269174.2:c.88G>A, XM_005269174.1:c.88G>A, XR_944757.2:n.363G>A, XR_944757.1:n.371G>A, XM_047429644.1:c.88G>A, XM_047429643.1:c.88G>A, XM_047429645.1:c.88G>A, XM_011538803.1:c.88G>A, XM_047429642.1:c.88G>A, XM_047429646.1:c.88G>A, XM_047429647.1:c.88G>A, NP_115523.2:p.Val30Met, NP_001035862.1:p.Val30Met, NP_001334866.1:p.Val30Met, NP_001265322.1:p.Val30Met, NP_001334865.1:p.Val30Met, XP_011537107.1:p.Val30Met, XP_011537106.1:p.Val30Met, XP_011537102.1:p.Val30Met, XP_011537108.1:p.Val30Met, XP_005269230.1:p.Val30Met, XP_005269229.1:p.Val30Met, XP_011537104.1:p.Val30Met, XP_011537103.1:p.Val30Met, XP_005269231.1:p.Val30Met, XP_047285600.1:p.Val30Met, XP_047285599.1:p.Val30Met, XP_047285601.1:p.Val30Met, XP_011537105.1:p.Val30Met, XP_047285598.1:p.Val30Met, XP_047285602.1:p.Val30Met, XP_047285603.1:p.Val30Met

                                      19.

                                      rs1465400560 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        12:95533524 (GRCh38)
                                        12:95927300 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:95533523:C:G
                                        Gene:
                                        USP44 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.95533524C>G, NC_000012.11:g.95927300C>G, NG_052622.1:g.23006G>C, NM_032147.5:c.733G>C, NM_032147.4:c.733G>C, NM_032147.3:c.733G>C, NM_001042403.3:c.733G>C, NM_001042403.2:c.733G>C, NR_125360.3:n.889G>C, NR_125360.2:n.931G>C, NR_125360.1:n.803G>C, NR_144946.2:n.835G>C, NR_144946.1:n.877G>C, NM_001347937.2:c.733G>C, NM_001347937.1:c.733G>C, NM_001278393.2:c.733G>C, NM_001278393.1:c.733G>C, NR_144948.2:n.1080G>C, NR_144948.1:n.1122G>C, NM_001347936.2:c.733G>C, NM_001347936.1:c.733G>C, NR_144944.2:n.1080G>C, NR_144944.1:n.1122G>C, NR_144945.2:n.835G>C, NR_144945.1:n.877G>C, NR_144947.2:n.835G>C, NR_144947.1:n.877G>C, XM_011538805.3:c.733G>C, XM_011538805.2:c.733G>C, XM_011538805.1:c.733G>C, XM_011538804.3:c.733G>C, XM_011538804.2:c.733G>C, XM_011538804.1:c.733G>C, XM_011538800.3:c.733G>C, XM_011538800.2:c.733G>C, XM_011538800.1:c.733G>C, XM_011538806.3:c.733G>C, XM_011538806.2:c.733G>C, XM_011538806.1:c.733G>C, XM_005269173.2:c.733G>C, XM_005269173.1:c.733G>C, XM_005269172.2:c.733G>C, XM_005269172.1:c.733G>C, XM_011538802.2:c.733G>C, XM_011538802.1:c.733G>C, XM_011538801.2:c.733G>C, XM_011538801.1:c.733G>C, XM_005269174.2:c.733G>C, XM_005269174.1:c.733G>C, XR_944757.2:n.1008G>C, XR_944757.1:n.1016G>C, XM_047429644.1:c.733G>C, XM_047429643.1:c.733G>C, XM_047429645.1:c.733G>C, XM_011538803.1:c.733G>C, XM_047429642.1:c.733G>C, XM_047429646.1:c.733G>C, XM_047429647.1:c.733G>C, NP_115523.2:p.Val245Leu, NP_001035862.1:p.Val245Leu, NP_001334866.1:p.Val245Leu, NP_001265322.1:p.Val245Leu, NP_001334865.1:p.Val245Leu, XP_011537107.1:p.Val245Leu, XP_011537106.1:p.Val245Leu, XP_011537102.1:p.Val245Leu, XP_011537108.1:p.Val245Leu, XP_005269230.1:p.Val245Leu, XP_005269229.1:p.Val245Leu, XP_011537104.1:p.Val245Leu, XP_011537103.1:p.Val245Leu, XP_005269231.1:p.Val245Leu, XP_047285600.1:p.Val245Leu, XP_047285599.1:p.Val245Leu, XP_047285601.1:p.Val245Leu, XP_011537105.1:p.Val245Leu, XP_047285598.1:p.Val245Leu, XP_047285602.1:p.Val245Leu, XP_047285603.1:p.Val245Leu

                                        20.

                                        rs1465010025 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:95533191 (GRCh38)
                                          12:95926967 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:95533190:G:A
                                          Gene:
                                          USP44 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.95533191G>A, NC_000012.11:g.95926967G>A, NG_052622.1:g.23339C>T, NM_032147.5:c.1066C>T, NM_032147.4:c.1066C>T, NM_032147.3:c.1066C>T, NM_001042403.3:c.1066C>T, NM_001042403.2:c.1066C>T, NR_125360.3:n.1222C>T, NR_125360.2:n.1264C>T, NR_125360.1:n.1136C>T, NR_144946.2:n.1168C>T, NR_144946.1:n.1210C>T, NM_001347937.2:c.1066C>T, NM_001347937.1:c.1066C>T, NM_001278393.2:c.1066C>T, NM_001278393.1:c.1066C>T, NR_144948.2:n.1413C>T, NR_144948.1:n.1455C>T, NM_001347936.2:c.1066C>T, NM_001347936.1:c.1066C>T, NR_144944.2:n.1413C>T, NR_144944.1:n.1455C>T, NR_144945.2:n.1168C>T, NR_144945.1:n.1210C>T, NR_144947.2:n.1168C>T, NR_144947.1:n.1210C>T, XM_011538805.3:c.1066C>T, XM_011538805.2:c.1066C>T, XM_011538805.1:c.1066C>T, XM_011538804.3:c.1066C>T, XM_011538804.2:c.1066C>T, XM_011538804.1:c.1066C>T, XM_011538800.3:c.1066C>T, XM_011538800.2:c.1066C>T, XM_011538800.1:c.1066C>T, XM_011538806.3:c.1066C>T, XM_011538806.2:c.1066C>T, XM_011538806.1:c.1066C>T, XM_005269173.2:c.1066C>T, XM_005269173.1:c.1066C>T, XM_005269172.2:c.1066C>T, XM_005269172.1:c.1066C>T, XM_011538802.2:c.1066C>T, XM_011538802.1:c.1066C>T, XM_011538801.2:c.1066C>T, XM_011538801.1:c.1066C>T, XM_005269174.2:c.1066C>T, XM_005269174.1:c.1066C>T, XR_944757.2:n.1341C>T, XR_944757.1:n.1349C>T, XM_047429644.1:c.1066C>T, XM_047429643.1:c.1066C>T, XM_047429645.1:c.1066C>T, XM_011538803.1:c.1066C>T, XM_047429642.1:c.1066C>T, XM_047429646.1:c.1066C>T, XM_047429647.1:c.1066C>T

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