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Items: 1 to 20 of 459

1.

rs1488254109 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    21:15808866 (GRCh38)
    21:17181185 (GRCh37)
    Canonical SPDI:
    NC_000021.9:15808865:A:G
    Gene:
    USP25 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000021.9:g.15808866A>G, NC_000021.8:g.17181185A>G, NM_013396.6:c.838A>G, NM_013396.5:c.838A>G, NM_013396.4:c.838A>G, NM_013396.3:c.838A>G, NM_001283041.3:c.838A>G, NM_001283041.2:c.838A>G, NM_001283041.1:c.838A>G, NM_001283042.3:c.838A>G, NM_001283042.2:c.838A>G, NM_001283042.1:c.838A>G, XM_011529535.3:c.838A>G, XM_011529535.2:c.838A>G, XM_011529535.1:c.838A>G, NM_001352560.2:c.175A>G, NM_001352560.1:c.175A>G, NM_001352561.2:c.-499A>G, NM_001352561.1:c.-499A>G, XM_011529529.2:c.838A>G, XM_011529529.1:c.838A>G, XM_047440745.1:c.175A>G, NM_001388301.1:c.-499A>G, NM_001388302.1:c.-499A>G, NM_001388299.1:c.175A>G, NM_001388300.1:c.-247A>G, XM_047440747.1:c.-61A>G, XM_047440749.1:c.838A>G, XM_047440751.1:c.838A>G, NP_037528.3:p.Met280Val, NP_001269970.1:p.Met280Val, NP_001269971.1:p.Met280Val, XP_011527837.1:p.Met280Val, NP_001339489.1:p.Met59Val, XP_011527831.1:p.Met280Val, XP_047296701.1:p.Met59Val, NP_001375228.1:p.Met59Val, XP_047296705.1:p.Met280Val, XP_047296707.1:p.Met280Val

    2.

    rs1486025252 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      21:15799832 (GRCh38)
      21:17172151 (GRCh37)
      Canonical SPDI:
      NC_000021.9:15799831:C:T
      Gene:
      USP25 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000071/1 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000021.9:g.15799832C>T, NC_000021.8:g.17172151C>T, NM_013396.6:c.631C>T, NM_013396.5:c.631C>T, NM_013396.4:c.631C>T, NM_013396.3:c.631C>T, NM_001283041.3:c.631C>T, NM_001283041.2:c.631C>T, NM_001283041.1:c.631C>T, NM_001283042.3:c.631C>T, NM_001283042.2:c.631C>T, NM_001283042.1:c.631C>T, XM_011529535.3:c.631C>T, XM_011529535.2:c.631C>T, XM_011529535.1:c.631C>T, NM_001352560.2:c.-33C>T, NM_001352560.1:c.-33C>T, NM_001352561.2:c.-706C>T, NM_001352561.1:c.-706C>T, XM_011529529.2:c.631C>T, XM_011529529.1:c.631C>T, XM_047440745.1:c.-33C>T, NM_001388301.1:c.-706C>T, NM_001388302.1:c.-706C>T, NM_001388299.1:c.-33C>T, NM_001388300.1:c.-454C>T, XM_047440749.1:c.631C>T, XM_047440751.1:c.631C>T, NP_037528.3:p.Arg211Ter, NP_001269970.1:p.Arg211Ter, NP_001269971.1:p.Arg211Ter, XP_011527837.1:p.Arg211Ter, XP_011527831.1:p.Arg211Ter, XP_047296705.1:p.Arg211Ter, XP_047296707.1:p.Arg211Ter

      3.

      rs1484178022 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        21:15827057 (GRCh38)
        21:17199376 (GRCh37)
        Canonical SPDI:
        NC_000021.9:15827056:C:T
        Gene:
        USP25 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000034/9 (TOPMED)
        HGVS:
        NC_000021.9:g.15827057C>T, NC_000021.8:g.17199376C>T, NM_013396.6:c.1547C>T, NM_013396.5:c.1547C>T, NM_013396.4:c.1547C>T, NM_013396.3:c.1547C>T, XM_005260949.5:c.335C>T, XM_005260949.4:c.335C>T, XM_005260949.3:c.335C>T, XM_005260949.2:c.335C>T, XM_005260949.1:c.335C>T, NM_001283041.3:c.1547C>T, NM_001283041.2:c.1547C>T, NM_001283041.1:c.1547C>T, NM_001283042.3:c.1547C>T, NM_001283042.2:c.1547C>T, NM_001283042.1:c.1547C>T, XM_011529535.3:c.1547C>T, XM_011529535.2:c.1547C>T, XM_011529535.1:c.1547C>T, NM_001352560.2:c.884C>T, NM_001352560.1:c.884C>T, NM_001352561.2:c.335C>T, NM_001352561.1:c.335C>T, XM_011529529.2:c.1547C>T, XM_011529529.1:c.1547C>T, XM_047440745.1:c.884C>T, NM_001388301.1:c.335C>T, NM_001388302.1:c.335C>T, NM_001388299.1:c.884C>T, NM_001388300.1:c.335C>T, XM_047440746.1:c.755C>T, XM_047440747.1:c.650C>T, XM_047440748.1:c.650C>T, XM_047440750.1:c.335C>T, XM_047440749.1:c.1547C>T, XM_047440751.1:c.1547C>T, NP_037528.3:p.Ser516Leu, XP_005261006.1:p.Ser112Leu, NP_001269970.1:p.Ser516Leu, NP_001269971.1:p.Ser516Leu, XP_011527837.1:p.Ser516Leu, NP_001339489.1:p.Ser295Leu, NP_001339490.1:p.Ser112Leu, XP_011527831.1:p.Ser516Leu, XP_047296701.1:p.Ser295Leu, NP_001375230.1:p.Ser112Leu, NP_001375231.1:p.Ser112Leu, NP_001375228.1:p.Ser295Leu, NP_001375229.1:p.Ser112Leu, XP_047296702.1:p.Ser252Leu, XP_047296703.1:p.Ser217Leu, XP_047296704.1:p.Ser217Leu, XP_047296706.1:p.Ser112Leu, XP_047296705.1:p.Ser516Leu, XP_047296707.1:p.Ser516Leu

        4.

        rs1482395948 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          21:15818751 (GRCh38)
          21:17191070 (GRCh37)
          Canonical SPDI:
          NC_000021.9:15818750:G:C
          Gene:
          USP25 (Varview)
          Functional Consequence:
          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000021.9:g.15818751G>C, NC_000021.8:g.17191070G>C, NM_013396.6:c.985G>C, NM_013396.5:c.985G>C, NM_013396.4:c.985G>C, NM_013396.3:c.985G>C, NM_001283041.3:c.985G>C, NM_001283041.2:c.985G>C, NM_001283041.1:c.985G>C, NM_001283042.3:c.985G>C, NM_001283042.2:c.985G>C, NM_001283042.1:c.985G>C, XM_011529535.3:c.985G>C, XM_011529535.2:c.985G>C, XM_011529535.1:c.985G>C, NM_001352560.2:c.322G>C, NM_001352560.1:c.322G>C, NM_001352561.2:c.-352G>C, NM_001352561.1:c.-352G>C, XM_011529529.2:c.985G>C, XM_011529529.1:c.985G>C, XM_047440745.1:c.322G>C, NM_001388301.1:c.-352G>C, NM_001388302.1:c.-352G>C, NM_001388299.1:c.322G>C, NM_001388300.1:c.-100G>C, XM_047440746.1:c.193G>C, XM_047440747.1:c.88G>C, XM_047440748.1:c.88G>C, XM_047440749.1:c.985G>C, XM_047440751.1:c.985G>C, NP_037528.3:p.Gly329Arg, NP_001269970.1:p.Gly329Arg, NP_001269971.1:p.Gly329Arg, XP_011527837.1:p.Gly329Arg, NP_001339489.1:p.Gly108Arg, XP_011527831.1:p.Gly329Arg, XP_047296701.1:p.Gly108Arg, NP_001375228.1:p.Gly108Arg, XP_047296702.1:p.Gly65Arg, XP_047296703.1:p.Gly30Arg, XP_047296704.1:p.Gly30Arg, XP_047296705.1:p.Gly329Arg, XP_047296707.1:p.Gly329Arg

          5.

          rs1481400699 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            21:15827065 (GRCh38)
            21:17199384 (GRCh37)
            Canonical SPDI:
            NC_000021.9:15827064:C:T
            Gene:
            USP25 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000047/1 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000021.9:g.15827065C>T, NC_000021.8:g.17199384C>T, NM_013396.6:c.1555C>T, NM_013396.5:c.1555C>T, NM_013396.4:c.1555C>T, NM_013396.3:c.1555C>T, XM_005260949.5:c.343C>T, XM_005260949.4:c.343C>T, XM_005260949.3:c.343C>T, XM_005260949.2:c.343C>T, XM_005260949.1:c.343C>T, NM_001283041.3:c.1555C>T, NM_001283041.2:c.1555C>T, NM_001283041.1:c.1555C>T, NM_001283042.3:c.1555C>T, NM_001283042.2:c.1555C>T, NM_001283042.1:c.1555C>T, XM_011529535.3:c.1555C>T, XM_011529535.2:c.1555C>T, XM_011529535.1:c.1555C>T, NM_001352560.2:c.892C>T, NM_001352560.1:c.892C>T, NM_001352561.2:c.343C>T, NM_001352561.1:c.343C>T, XM_011529529.2:c.1555C>T, XM_011529529.1:c.1555C>T, XM_047440745.1:c.892C>T, NM_001388301.1:c.343C>T, NM_001388302.1:c.343C>T, NM_001388299.1:c.892C>T, NM_001388300.1:c.343C>T, XM_047440746.1:c.763C>T, XM_047440747.1:c.658C>T, XM_047440748.1:c.658C>T, XM_047440750.1:c.343C>T, XM_047440749.1:c.1555C>T, XM_047440751.1:c.1555C>T, NP_037528.3:p.His519Tyr, XP_005261006.1:p.His115Tyr, NP_001269970.1:p.His519Tyr, NP_001269971.1:p.His519Tyr, XP_011527837.1:p.His519Tyr, NP_001339489.1:p.His298Tyr, NP_001339490.1:p.His115Tyr, XP_011527831.1:p.His519Tyr, XP_047296701.1:p.His298Tyr, NP_001375230.1:p.His115Tyr, NP_001375231.1:p.His115Tyr, NP_001375228.1:p.His298Tyr, NP_001375229.1:p.His115Tyr, XP_047296702.1:p.His255Tyr, XP_047296703.1:p.His220Tyr, XP_047296704.1:p.His220Tyr, XP_047296706.1:p.His115Tyr, XP_047296705.1:p.His519Tyr, XP_047296707.1:p.His519Tyr

            6.

            rs1476990847 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              21:15826978 (GRCh38)
              21:17199297 (GRCh37)
              Canonical SPDI:
              NC_000021.9:15826977:A:G
              Gene:
              USP25 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000021.9:g.15826978A>G, NC_000021.8:g.17199297A>G, NM_013396.6:c.1468A>G, NM_013396.5:c.1468A>G, NM_013396.4:c.1468A>G, NM_013396.3:c.1468A>G, XM_005260949.5:c.256A>G, XM_005260949.4:c.256A>G, XM_005260949.3:c.256A>G, XM_005260949.2:c.256A>G, XM_005260949.1:c.256A>G, NM_001283041.3:c.1468A>G, NM_001283041.2:c.1468A>G, NM_001283041.1:c.1468A>G, NM_001283042.3:c.1468A>G, NM_001283042.2:c.1468A>G, NM_001283042.1:c.1468A>G, XM_011529535.3:c.1468A>G, XM_011529535.2:c.1468A>G, XM_011529535.1:c.1468A>G, NM_001352560.2:c.805A>G, NM_001352560.1:c.805A>G, NM_001352561.2:c.256A>G, NM_001352561.1:c.256A>G, XM_011529529.2:c.1468A>G, XM_011529529.1:c.1468A>G, XM_047440745.1:c.805A>G, NM_001388301.1:c.256A>G, NM_001388302.1:c.256A>G, NM_001388299.1:c.805A>G, NM_001388300.1:c.256A>G, XM_047440746.1:c.676A>G, XM_047440747.1:c.571A>G, XM_047440748.1:c.571A>G, XM_047440750.1:c.256A>G, XM_047440749.1:c.1468A>G, XM_047440751.1:c.1468A>G, NP_037528.3:p.Thr490Ala, XP_005261006.1:p.Thr86Ala, NP_001269970.1:p.Thr490Ala, NP_001269971.1:p.Thr490Ala, XP_011527837.1:p.Thr490Ala, NP_001339489.1:p.Thr269Ala, NP_001339490.1:p.Thr86Ala, XP_011527831.1:p.Thr490Ala, XP_047296701.1:p.Thr269Ala, NP_001375230.1:p.Thr86Ala, NP_001375231.1:p.Thr86Ala, NP_001375228.1:p.Thr269Ala, NP_001375229.1:p.Thr86Ala, XP_047296702.1:p.Thr226Ala, XP_047296703.1:p.Thr191Ala, XP_047296704.1:p.Thr191Ala, XP_047296706.1:p.Thr86Ala, XP_047296705.1:p.Thr490Ala, XP_047296707.1:p.Thr490Ala

              7.

              rs1476766532 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                21:15762922 (GRCh38)
                21:17135241 (GRCh37)
                Canonical SPDI:
                NC_000021.9:15762921:A:G
                Gene:
                USP25 (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000021.9:g.15762922A>G, NC_000021.8:g.17135241A>G, NM_013396.6:c.77A>G, NM_013396.5:c.77A>G, NM_013396.4:c.77A>G, NM_013396.3:c.77A>G, NM_001283041.3:c.77A>G, NM_001283041.2:c.77A>G, NM_001283041.1:c.77A>G, NM_001283042.3:c.77A>G, NM_001283042.2:c.77A>G, NM_001283042.1:c.77A>G, XM_011529535.3:c.77A>G, XM_011529535.2:c.77A>G, XM_011529535.1:c.77A>G, NM_001352560.2:c.-587A>G, NM_001352560.1:c.-587A>G, NM_001352561.2:c.-1136A>G, NM_001352561.1:c.-1136A>G, XM_011529529.2:c.77A>G, XM_011529529.1:c.77A>G, XM_047440745.1:c.-582A>G, NM_001388301.1:c.-1260A>G, NM_001388302.1:c.-1260A>G, NM_001388299.1:c.-582A>G, NM_001388300.1:c.-1008A>G, XM_047440749.1:c.77A>G, XM_047440751.1:c.77A>G, NP_037528.3:p.Glu26Gly, NP_001269970.1:p.Glu26Gly, NP_001269971.1:p.Glu26Gly, XP_011527837.1:p.Glu26Gly, XP_011527831.1:p.Glu26Gly, XP_047296705.1:p.Glu26Gly, XP_047296707.1:p.Glu26Gly

                8.

                rs1475817276 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  21:15730423 (GRCh38)
                  21:17102742 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:15730422:G:T
                  Gene:
                  USP25 (Varview)
                  Functional Consequence:
                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
                  HGVS:
                  NC_000021.9:g.15730423G>T, NC_000021.8:g.17102742G>T, NM_013396.6:c.30G>T, NM_013396.5:c.30G>T, NM_013396.4:c.30G>T, NM_013396.3:c.30G>T, NM_001283041.3:c.30G>T, NM_001283041.2:c.30G>T, NM_001283041.1:c.30G>T, NM_001283042.3:c.30G>T, NM_001283042.2:c.30G>T, NM_001283042.1:c.30G>T, XM_011529535.3:c.30G>T, XM_011529535.2:c.30G>T, XM_011529535.1:c.30G>T, NM_001352560.2:c.-884G>T, NM_001352560.1:c.-884G>T, NM_001352561.2:c.-1183G>T, NM_001352561.1:c.-1183G>T, XM_011529529.2:c.30G>T, XM_011529529.1:c.30G>T, NM_001388301.1:c.-1307G>T, NM_001388302.1:c.-1307G>T, NM_001388299.1:c.-629G>T, NM_001388300.1:c.-1055G>T, XM_047440749.1:c.30G>T, XM_047440751.1:c.30G>T, NP_037528.3:p.Gln10His, NP_001269970.1:p.Gln10His, NP_001269971.1:p.Gln10His, XP_011527837.1:p.Gln10His, XP_011527831.1:p.Gln10His, XP_047296705.1:p.Gln10His, XP_047296707.1:p.Gln10His

                  9.

                  rs1474809387 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    21:15791661 (GRCh38)
                    21:17163980 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:15791660:T:A
                    Gene:
                    USP25 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1473643619 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      21:15827137 (GRCh38)
                      21:17199456 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:15827136:G:A
                      Gene:
                      USP25 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000021.9:g.15827137G>A, NC_000021.8:g.17199456G>A, NM_013396.6:c.1627G>A, NM_013396.5:c.1627G>A, NM_013396.4:c.1627G>A, NM_013396.3:c.1627G>A, XM_005260949.5:c.415G>A, XM_005260949.4:c.415G>A, XM_005260949.3:c.415G>A, XM_005260949.2:c.415G>A, XM_005260949.1:c.415G>A, NM_001283041.3:c.1627G>A, NM_001283041.2:c.1627G>A, NM_001283041.1:c.1627G>A, NM_001283042.3:c.1627G>A, NM_001283042.2:c.1627G>A, NM_001283042.1:c.1627G>A, XM_011529535.3:c.1627G>A, XM_011529535.2:c.1627G>A, XM_011529535.1:c.1627G>A, NM_001352560.2:c.964G>A, NM_001352560.1:c.964G>A, NM_001352561.2:c.415G>A, NM_001352561.1:c.415G>A, XM_011529529.2:c.1627G>A, XM_011529529.1:c.1627G>A, XM_047440745.1:c.964G>A, NM_001388301.1:c.415G>A, NM_001388302.1:c.415G>A, NM_001388299.1:c.964G>A, NM_001388300.1:c.415G>A, XM_047440746.1:c.835G>A, XM_047440747.1:c.730G>A, XM_047440748.1:c.730G>A, XM_047440750.1:c.415G>A, XM_047440749.1:c.1627G>A, XM_047440751.1:c.1627G>A, NP_037528.3:p.Glu543Lys, XP_005261006.1:p.Glu139Lys, NP_001269970.1:p.Glu543Lys, NP_001269971.1:p.Glu543Lys, XP_011527837.1:p.Glu543Lys, NP_001339489.1:p.Glu322Lys, NP_001339490.1:p.Glu139Lys, XP_011527831.1:p.Glu543Lys, XP_047296701.1:p.Glu322Lys, NP_001375230.1:p.Glu139Lys, NP_001375231.1:p.Glu139Lys, NP_001375228.1:p.Glu322Lys, NP_001375229.1:p.Glu139Lys, XP_047296702.1:p.Glu279Lys, XP_047296703.1:p.Glu244Lys, XP_047296704.1:p.Glu244Lys, XP_047296706.1:p.Glu139Lys, XP_047296705.1:p.Glu543Lys, XP_047296707.1:p.Glu543Lys

                      11.

                      rs1472578355 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        21:15811150 (GRCh38)
                        21:17183469 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:15811149:C:A
                        Gene:
                        USP25 (Varview)
                        Functional Consequence:
                        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.00028/5 (TOMMO)
                        HGVS:
                        NC_000021.9:g.15811150C>A, NC_000021.8:g.17183469C>A, NM_013396.6:c.871C>A, NM_013396.5:c.871C>A, NM_013396.4:c.871C>A, NM_013396.3:c.871C>A, NM_001283041.3:c.871C>A, NM_001283041.2:c.871C>A, NM_001283041.1:c.871C>A, NM_001283042.3:c.871C>A, NM_001283042.2:c.871C>A, NM_001283042.1:c.871C>A, XM_011529535.3:c.871C>A, XM_011529535.2:c.871C>A, XM_011529535.1:c.871C>A, NM_001352560.2:c.208C>A, NM_001352560.1:c.208C>A, NM_001352561.2:c.-466C>A, NM_001352561.1:c.-466C>A, XM_011529529.2:c.871C>A, XM_011529529.1:c.871C>A, XM_047440745.1:c.208C>A, NM_001388301.1:c.-466C>A, NM_001388302.1:c.-466C>A, NM_001388299.1:c.208C>A, NM_001388300.1:c.-214C>A, XM_047440746.1:c.79C>A, XM_047440747.1:c.-28C>A, XM_047440748.1:c.-28C>A, XM_047440749.1:c.871C>A, XM_047440751.1:c.871C>A, NP_037528.3:p.Pro291Thr, NP_001269970.1:p.Pro291Thr, NP_001269971.1:p.Pro291Thr, XP_011527837.1:p.Pro291Thr, NP_001339489.1:p.Pro70Thr, XP_011527831.1:p.Pro291Thr, XP_047296701.1:p.Pro70Thr, NP_001375228.1:p.Pro70Thr, XP_047296702.1:p.Pro27Thr, XP_047296705.1:p.Pro291Thr, XP_047296707.1:p.Pro291Thr

                        12.

                        rs1471954201 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          21:15827136 (GRCh38)
                          21:17199455 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:15827135:G:C
                          Gene:
                          USP25 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000008/2 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000021.9:g.15827136G>C, NC_000021.8:g.17199455G>C, NM_013396.6:c.1626G>C, NM_013396.5:c.1626G>C, NM_013396.4:c.1626G>C, NM_013396.3:c.1626G>C, XM_005260949.5:c.414G>C, XM_005260949.4:c.414G>C, XM_005260949.3:c.414G>C, XM_005260949.2:c.414G>C, XM_005260949.1:c.414G>C, NM_001283041.3:c.1626G>C, NM_001283041.2:c.1626G>C, NM_001283041.1:c.1626G>C, NM_001283042.3:c.1626G>C, NM_001283042.2:c.1626G>C, NM_001283042.1:c.1626G>C, XM_011529535.3:c.1626G>C, XM_011529535.2:c.1626G>C, XM_011529535.1:c.1626G>C, NM_001352560.2:c.963G>C, NM_001352560.1:c.963G>C, NM_001352561.2:c.414G>C, NM_001352561.1:c.414G>C, XM_011529529.2:c.1626G>C, XM_011529529.1:c.1626G>C, XM_047440745.1:c.963G>C, NM_001388301.1:c.414G>C, NM_001388302.1:c.414G>C, NM_001388299.1:c.963G>C, NM_001388300.1:c.414G>C, XM_047440746.1:c.834G>C, XM_047440747.1:c.729G>C, XM_047440748.1:c.729G>C, XM_047440750.1:c.414G>C, XM_047440749.1:c.1626G>C, XM_047440751.1:c.1626G>C, NP_037528.3:p.Glu542Asp, XP_005261006.1:p.Glu138Asp, NP_001269970.1:p.Glu542Asp, NP_001269971.1:p.Glu542Asp, XP_011527837.1:p.Glu542Asp, NP_001339489.1:p.Glu321Asp, NP_001339490.1:p.Glu138Asp, XP_011527831.1:p.Glu542Asp, XP_047296701.1:p.Glu321Asp, NP_001375230.1:p.Glu138Asp, NP_001375231.1:p.Glu138Asp, NP_001375228.1:p.Glu321Asp, NP_001375229.1:p.Glu138Asp, XP_047296702.1:p.Glu278Asp, XP_047296703.1:p.Glu243Asp, XP_047296704.1:p.Glu243Asp, XP_047296706.1:p.Glu138Asp, XP_047296705.1:p.Glu542Asp, XP_047296707.1:p.Glu542Asp

                          13.

                          rs1471323489 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            21:15730417 (GRCh38)
                            21:17102736 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:15730416:G:T
                            Gene:
                            USP25 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant
                            HGVS:

                            14.

                            rs1470898197 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              21:15826280 (GRCh38)
                              21:17198599 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:15826279:A:G
                              Gene:
                              USP25 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000021.9:g.15826280A>G, NC_000021.8:g.17198599A>G, NM_013396.6:c.1381A>G, NM_013396.5:c.1381A>G, NM_013396.4:c.1381A>G, NM_013396.3:c.1381A>G, XM_005260949.5:c.169A>G, XM_005260949.4:c.169A>G, XM_005260949.3:c.169A>G, XM_005260949.2:c.169A>G, XM_005260949.1:c.169A>G, NM_001283041.3:c.1381A>G, NM_001283041.2:c.1381A>G, NM_001283041.1:c.1381A>G, NM_001283042.3:c.1381A>G, NM_001283042.2:c.1381A>G, NM_001283042.1:c.1381A>G, XM_011529535.3:c.1381A>G, XM_011529535.2:c.1381A>G, XM_011529535.1:c.1381A>G, NM_001352560.2:c.718A>G, NM_001352560.1:c.718A>G, NM_001352561.2:c.169A>G, NM_001352561.1:c.169A>G, XM_011529529.2:c.1381A>G, XM_011529529.1:c.1381A>G, XM_047440745.1:c.718A>G, NM_001388301.1:c.169A>G, NM_001388302.1:c.169A>G, NM_001388299.1:c.718A>G, NM_001388300.1:c.169A>G, XM_047440746.1:c.589A>G, XM_047440747.1:c.484A>G, XM_047440748.1:c.484A>G, XM_047440750.1:c.169A>G, XM_047440749.1:c.1381A>G, XM_047440751.1:c.1381A>G, NP_037528.3:p.Ser461Gly, XP_005261006.1:p.Ser57Gly, NP_001269970.1:p.Ser461Gly, NP_001269971.1:p.Ser461Gly, XP_011527837.1:p.Ser461Gly, NP_001339489.1:p.Ser240Gly, NP_001339490.1:p.Ser57Gly, XP_011527831.1:p.Ser461Gly, XP_047296701.1:p.Ser240Gly, NP_001375230.1:p.Ser57Gly, NP_001375231.1:p.Ser57Gly, NP_001375228.1:p.Ser240Gly, NP_001375229.1:p.Ser57Gly, XP_047296702.1:p.Ser197Gly, XP_047296703.1:p.Ser162Gly, XP_047296704.1:p.Ser162Gly, XP_047296706.1:p.Ser57Gly, XP_047296705.1:p.Ser461Gly, XP_047296707.1:p.Ser461Gly

                              15.

                              rs1469457645 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                21:15766051 (GRCh38)
                                21:17138370 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:15766050:A:G
                                Gene:
                                USP25 (Varview)
                                Functional Consequence:
                                missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000021.9:g.15766051A>G, NC_000021.8:g.17138370A>G, NM_013396.6:c.178A>G, NM_013396.5:c.178A>G, NM_013396.4:c.178A>G, NM_013396.3:c.178A>G, NM_001283041.3:c.178A>G, NM_001283041.2:c.178A>G, NM_001283041.1:c.178A>G, NM_001283042.3:c.178A>G, NM_001283042.2:c.178A>G, NM_001283042.1:c.178A>G, XM_011529535.3:c.178A>G, XM_011529535.2:c.178A>G, XM_011529535.1:c.178A>G, NM_001352560.2:c.-486A>G, NM_001352560.1:c.-486A>G, NM_001352561.2:c.-1035A>G, NM_001352561.1:c.-1035A>G, XM_011529529.2:c.178A>G, XM_011529529.1:c.178A>G, XM_047440745.1:c.-486A>G, NM_001388301.1:c.-1159A>G, NM_001388302.1:c.-1159A>G, NM_001388299.1:c.-486A>G, NM_001388300.1:c.-907A>G, XM_047440749.1:c.178A>G, XM_047440751.1:c.178A>G, NP_037528.3:p.Lys60Glu, NP_001269970.1:p.Lys60Glu, NP_001269971.1:p.Lys60Glu, XP_011527837.1:p.Lys60Glu, XP_011527831.1:p.Lys60Glu, XP_047296705.1:p.Lys60Glu, XP_047296707.1:p.Lys60Glu

                                16.

                                rs1467871984 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  21:15766020 (GRCh38)
                                  21:17138339 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:15766019:A:G
                                  Gene:
                                  USP25 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1465968125 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    21:15805249 (GRCh38)
                                    21:17177568 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:15805248:C:G,NC_000021.9:15805248:C:T
                                    Gene:
                                    USP25 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000031/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000021.9:g.15805249C>G, NC_000021.9:g.15805249C>T, NC_000021.8:g.17177568C>G, NC_000021.8:g.17177568C>T, NM_013396.6:c.771C>G, NM_013396.6:c.771C>T, NM_013396.5:c.771C>G, NM_013396.5:c.771C>T, NM_013396.4:c.771C>G, NM_013396.4:c.771C>T, NM_013396.3:c.771C>G, NM_013396.3:c.771C>T, NM_001283041.3:c.771C>G, NM_001283041.3:c.771C>T, NM_001283041.2:c.771C>G, NM_001283041.2:c.771C>T, NM_001283041.1:c.771C>G, NM_001283041.1:c.771C>T, NM_001283042.3:c.771C>G, NM_001283042.3:c.771C>T, NM_001283042.2:c.771C>G, NM_001283042.2:c.771C>T, NM_001283042.1:c.771C>G, NM_001283042.1:c.771C>T, XM_011529535.3:c.771C>G, XM_011529535.3:c.771C>T, XM_011529535.2:c.771C>G, XM_011529535.2:c.771C>T, XM_011529535.1:c.771C>G, XM_011529535.1:c.771C>T, NM_001352560.2:c.108C>G, NM_001352560.2:c.108C>T, NM_001352560.1:c.108C>G, NM_001352560.1:c.108C>T, NM_001352561.2:c.-566C>G, NM_001352561.2:c.-566C>T, NM_001352561.1:c.-566C>G, NM_001352561.1:c.-566C>T, XM_011529529.2:c.771C>G, XM_011529529.2:c.771C>T, XM_011529529.1:c.771C>G, XM_011529529.1:c.771C>T, XM_047440745.1:c.108C>G, XM_047440745.1:c.108C>T, NM_001388301.1:c.-566C>G, NM_001388301.1:c.-566C>T, NM_001388302.1:c.-566C>G, NM_001388302.1:c.-566C>T, NM_001388299.1:c.108C>G, NM_001388299.1:c.108C>T, NM_001388300.1:c.-314C>G, NM_001388300.1:c.-314C>T, XM_047440746.1:c.56C>G, XM_047440746.1:c.56C>T, XM_047440748.1:c.-51C>G, XM_047440748.1:c.-51C>T, XM_047440749.1:c.771C>G, XM_047440749.1:c.771C>T, XM_047440751.1:c.771C>G, XM_047440751.1:c.771C>T, NP_037528.3:p.Asp257Glu, NP_001269970.1:p.Asp257Glu, NP_001269971.1:p.Asp257Glu, XP_011527837.1:p.Asp257Glu, NP_001339489.1:p.Asp36Glu, XP_011527831.1:p.Asp257Glu, XP_047296701.1:p.Asp36Glu, NP_001375228.1:p.Asp36Glu, XP_047296702.1:p.Thr19Ser, XP_047296702.1:p.Thr19Ile, XP_047296705.1:p.Asp257Glu, XP_047296707.1:p.Asp257Glu

                                    18.

                                    rs1464056851 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      21:15818760 (GRCh38)
                                      21:17191079 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:15818759:G:T
                                      Gene:
                                      USP25 (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000021.9:g.15818760G>T, NC_000021.8:g.17191079G>T, NM_013396.6:c.994G>T, NM_013396.5:c.994G>T, NM_013396.4:c.994G>T, NM_013396.3:c.994G>T, XM_005260949.5:c.-91G>T, XM_005260949.4:c.-91G>T, XM_005260949.3:c.-91G>T, XM_005260949.2:c.-91G>T, XM_005260949.1:c.-91G>T, NM_001283041.3:c.994G>T, NM_001283041.2:c.994G>T, NM_001283041.1:c.994G>T, NM_001283042.3:c.994G>T, NM_001283042.2:c.994G>T, NM_001283042.1:c.994G>T, XM_011529535.3:c.994G>T, XM_011529535.2:c.994G>T, XM_011529535.1:c.994G>T, NM_001352560.2:c.331G>T, NM_001352560.1:c.331G>T, NM_001352561.2:c.-343G>T, NM_001352561.1:c.-343G>T, XM_011529529.2:c.994G>T, XM_011529529.1:c.994G>T, XM_047440745.1:c.331G>T, NM_001388301.1:c.-343G>T, NM_001388302.1:c.-343G>T, NM_001388299.1:c.331G>T, NM_001388300.1:c.-91G>T, XM_047440746.1:c.202G>T, XM_047440747.1:c.97G>T, XM_047440748.1:c.97G>T, XM_047440749.1:c.994G>T, XM_047440751.1:c.994G>T, NP_037528.3:p.Asp332Tyr, NP_001269970.1:p.Asp332Tyr, NP_001269971.1:p.Asp332Tyr, XP_011527837.1:p.Asp332Tyr, NP_001339489.1:p.Asp111Tyr, XP_011527831.1:p.Asp332Tyr, XP_047296701.1:p.Asp111Tyr, NP_001375228.1:p.Asp111Tyr, XP_047296702.1:p.Asp68Tyr, XP_047296703.1:p.Asp33Tyr, XP_047296704.1:p.Asp33Tyr, XP_047296705.1:p.Asp332Tyr, XP_047296707.1:p.Asp332Tyr

                                      19.

                                      rs1460099823 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        21:15791659 (GRCh38)
                                        21:17163978 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:15791658:A:G
                                        Gene:
                                        USP25 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000021.9:g.15791659A>G, NC_000021.8:g.17163978A>G, NM_013396.6:c.550A>G, NM_013396.5:c.550A>G, NM_013396.4:c.550A>G, NM_013396.3:c.550A>G, NM_001283041.3:c.550A>G, NM_001283041.2:c.550A>G, NM_001283041.1:c.550A>G, NM_001283042.3:c.550A>G, NM_001283042.2:c.550A>G, NM_001283042.1:c.550A>G, XM_011529535.3:c.550A>G, XM_011529535.2:c.550A>G, XM_011529535.1:c.550A>G, NM_001352560.2:c.-114A>G, NM_001352560.1:c.-114A>G, NM_001352561.2:c.-787A>G, NM_001352561.1:c.-787A>G, XM_011529529.2:c.550A>G, XM_011529529.1:c.550A>G, XM_047440745.1:c.-114A>G, NM_001388301.1:c.-787A>G, NM_001388302.1:c.-787A>G, NM_001388299.1:c.-114A>G, NM_001388300.1:c.-535A>G, XM_047440749.1:c.550A>G, XM_047440751.1:c.550A>G, NP_037528.3:p.Ile184Val, NP_001269970.1:p.Ile184Val, NP_001269971.1:p.Ile184Val, XP_011527837.1:p.Ile184Val, XP_011527831.1:p.Ile184Val, XP_047296705.1:p.Ile184Val, XP_047296707.1:p.Ile184Val

                                        20.

                                        rs1459708443 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CAA>- [Show Flanks]
                                          Chromosome:
                                          21:15824992 (GRCh38)
                                          21:17197311 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:15824989:AACAA:AA
                                          Gene:
                                          USP25 (Varview)
                                          Functional Consequence:
                                          inframe_deletion,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          -=0.000008/2 (TOPMED)
                                          -=0.000029/4 (GnomAD)
                                          HGVS:
                                          NC_000021.9:g.15824992_15824994del, NC_000021.8:g.17197311_17197313del, NM_013396.6:c.1235_1237del, NM_013396.5:c.1235_1237del, NM_013396.4:c.1235_1237del, NM_013396.3:c.1235_1237del, XM_005260949.5:c.23_25del, XM_005260949.4:c.23_25del, XM_005260949.3:c.23_25del, XM_005260949.2:c.23_25del, XM_005260949.1:c.23_25del, NM_001283041.3:c.1235_1237del, NM_001283041.2:c.1235_1237del, NM_001283041.1:c.1235_1237del, NM_001283042.3:c.1235_1237del, NM_001283042.2:c.1235_1237del, NM_001283042.1:c.1235_1237del, XM_011529535.3:c.1235_1237del, XM_011529535.2:c.1235_1237del, XM_011529535.1:c.1235_1237del, NM_001352560.2:c.572_574del, NM_001352560.1:c.572_574del, NM_001352561.2:c.23_25del, NM_001352561.1:c.23_25del, XM_011529529.2:c.1235_1237del, XM_011529529.1:c.1235_1237del, XM_047440745.1:c.572_574del, NM_001388301.1:c.23_25del, NM_001388302.1:c.23_25del, NM_001388299.1:c.572_574del, NM_001388300.1:c.23_25del, XM_047440746.1:c.443_445del, XM_047440747.1:c.338_340del, XM_047440748.1:c.338_340del, XM_047440750.1:c.23_25del, XM_047440749.1:c.1235_1237del, XM_047440751.1:c.1235_1237del, NP_037528.3:p.Thr412del, XP_005261006.1:p.Thr8del, NP_001269970.1:p.Thr412del, NP_001269971.1:p.Thr412del, XP_011527837.1:p.Thr412del, NP_001339489.1:p.Thr191del, NP_001339490.1:p.Thr8del, XP_011527831.1:p.Thr412del, XP_047296701.1:p.Thr191del, NP_001375230.1:p.Thr8del, NP_001375231.1:p.Thr8del, NP_001375228.1:p.Thr191del, NP_001375229.1:p.Thr8del, XP_047296702.1:p.Thr148del, XP_047296703.1:p.Thr113del, XP_047296704.1:p.Thr113del, XP_047296706.1:p.Thr8del, XP_047296705.1:p.Thr412del, XP_047296707.1:p.Thr412del

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