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Items: 1 to 20 of 647

1.

rs1488065987 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:21736491 (GRCh38)
    1:22062984 (GRCh37)
    Canonical SPDI:
    NC_000001.11:21736490:T:C
    Gene:
    USP48 (Varview)
    Functional Consequence:
    upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.21736491T>C, NC_000001.10:g.22062984T>C, NG_047203.1:g.51709A>G, NM_032236.8:c.1126A>G, NM_032236.7:c.1126A>G, NM_032236.6:c.1126A>G, NM_032236.5:c.1126A>G, NM_001330394.3:c.1126A>G, NM_001330394.2:c.1126A>G, NM_001330394.1:c.1126A>G, NM_001032730.3:c.1126A>G, NM_001032730.2:c.1126A>G, NM_001032730.1:c.1126A>G, NM_001350168.2:c.1126A>G, NM_001350168.1:c.1126A>G, NM_001350167.2:c.1126A>G, NM_001350167.1:c.1126A>G, NM_001350166.2:c.1126A>G, NM_001350166.1:c.1126A>G, NM_001350164.2:c.1126A>G, NM_001350164.1:c.1126A>G, XM_006710955.5:c.1126A>G, XM_006710955.4:c.1126A>G, XM_006710955.3:c.1126A>G, XM_006710955.2:c.1126A>G, XM_006710955.1:c.1126A>G, XM_011542267.4:c.-133A>G, XM_011542267.3:c.-133A>G, XM_011542267.2:c.-133A>G, XM_011542267.1:c.-133A>G, XM_011542264.2:c.925A>G, XM_011542264.1:c.925A>G, XM_047432027.1:c.1126A>G, XM_047432026.1:c.1126A>G, XM_047432029.1:c.1126A>G, XM_047432030.1:c.1126A>G, XM_047432031.1:c.1126A>G, XM_047432032.1:c.1126A>G, XM_047432033.1:c.1126A>G, NP_115612.4:p.Lys376Glu, NP_001317323.1:p.Lys376Glu, NP_001027902.1:p.Lys376Glu, NP_001337097.1:p.Lys376Glu, NP_001337096.1:p.Lys376Glu, NP_001337095.1:p.Lys376Glu, NP_001337093.1:p.Lys376Glu, XP_006711018.1:p.Lys376Glu, XP_011540566.1:p.Lys309Glu, XP_047287983.1:p.Lys376Glu, XP_047287982.1:p.Lys376Glu, XP_047287985.1:p.Lys376Glu, XP_047287986.1:p.Lys376Glu, XP_047287987.1:p.Lys376Glu, XP_047287988.1:p.Lys376Glu, XP_047287989.1:p.Lys376Glu

    2.

    rs1486494929 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:21752559 (GRCh38)
      1:22079052 (GRCh37)
      Canonical SPDI:
      NC_000001.11:21752558:C:T
      Gene:
      USP48 (Varview)
      Functional Consequence:
      synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.21752559C>T, NC_000001.10:g.22079052C>T, NG_047203.1:g.35641G>A, NM_032236.8:c.633G>A, NM_032236.7:c.633G>A, NM_032236.6:c.633G>A, NM_032236.5:c.633G>A, NM_001330394.3:c.633G>A, NM_001330394.2:c.633G>A, NM_001330394.1:c.633G>A, NM_001032730.3:c.633G>A, NM_001032730.2:c.633G>A, NM_001032730.1:c.633G>A, NM_001350168.2:c.633G>A, NM_001350168.1:c.633G>A, NM_001350167.2:c.633G>A, NM_001350167.1:c.633G>A, NM_001350166.2:c.633G>A, NM_001350166.1:c.633G>A, NM_001350164.2:c.633G>A, NM_001350164.1:c.633G>A, XM_006710955.5:c.633G>A, XM_006710955.4:c.633G>A, XM_006710955.3:c.633G>A, XM_006710955.2:c.633G>A, XM_006710955.1:c.633G>A, XM_011542264.2:c.432G>A, XM_011542264.1:c.432G>A, XM_047432027.1:c.633G>A, XM_047432026.1:c.633G>A, XM_047432029.1:c.633G>A, XM_047432030.1:c.633G>A, XM_047432031.1:c.633G>A, XM_047432032.1:c.633G>A, XM_047432033.1:c.633G>A

      3.

      rs1486135828 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        1:21782887 (GRCh38)
        1:22109380 (GRCh37)
        Canonical SPDI:
        NC_000001.11:21782886:G:A,NC_000001.11:21782886:G:T
        Gene:
        USP48 (Varview)
        Functional Consequence:
        stop_gained,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.21782887G>A, NC_000001.11:g.21782887G>T, NC_000001.10:g.22109380G>A, NC_000001.10:g.22109380G>T, NG_047203.1:g.5313C>T, NG_047203.1:g.5313C>A, NM_032236.8:c.71C>T, NM_032236.8:c.71C>A, NM_032236.7:c.71C>T, NM_032236.7:c.71C>A, NM_032236.6:c.71C>T, NM_032236.6:c.71C>A, NM_032236.5:c.71C>T, NM_032236.5:c.71C>A, NM_001330394.3:c.71C>T, NM_001330394.3:c.71C>A, NM_001330394.2:c.71C>T, NM_001330394.2:c.71C>A, NM_001330394.1:c.71C>T, NM_001330394.1:c.71C>A, NM_001032730.3:c.71C>T, NM_001032730.3:c.71C>A, NM_001032730.2:c.71C>T, NM_001032730.2:c.71C>A, NM_001032730.1:c.71C>T, NM_001032730.1:c.71C>A, NM_001350168.2:c.71C>T, NM_001350168.2:c.71C>A, NM_001350168.1:c.71C>T, NM_001350168.1:c.71C>A, NM_001350167.2:c.71C>T, NM_001350167.2:c.71C>A, NM_001350167.1:c.71C>T, NM_001350167.1:c.71C>A, NM_001350166.2:c.71C>T, NM_001350166.2:c.71C>A, NM_001350166.1:c.71C>T, NM_001350166.1:c.71C>A, NM_001350164.2:c.71C>T, NM_001350164.2:c.71C>A, NM_001350164.1:c.71C>T, NM_001350164.1:c.71C>A, XM_006710955.5:c.71C>T, XM_006710955.5:c.71C>A, XM_006710955.4:c.71C>T, XM_006710955.4:c.71C>A, XM_006710955.3:c.71C>T, XM_006710955.3:c.71C>A, XM_006710955.2:c.71C>T, XM_006710955.2:c.71C>A, XM_006710955.1:c.71C>T, XM_006710955.1:c.71C>A, XM_047432027.1:c.71C>T, XM_047432027.1:c.71C>A, XM_047432026.1:c.71C>T, XM_047432026.1:c.71C>A, XM_047432029.1:c.71C>T, XM_047432029.1:c.71C>A, XM_047432030.1:c.71C>T, XM_047432030.1:c.71C>A, XM_047432031.1:c.71C>T, XM_047432031.1:c.71C>A, XM_047432032.1:c.71C>T, XM_047432032.1:c.71C>A, XM_047432033.1:c.71C>T, XM_047432033.1:c.71C>A, NP_115612.4:p.Ser24Leu, NP_115612.4:p.Ser24Ter, NP_001317323.1:p.Ser24Leu, NP_001317323.1:p.Ser24Ter, NP_001027902.1:p.Ser24Leu, NP_001027902.1:p.Ser24Ter, NP_001337097.1:p.Ser24Leu, NP_001337097.1:p.Ser24Ter, NP_001337096.1:p.Ser24Leu, NP_001337096.1:p.Ser24Ter, NP_001337095.1:p.Ser24Leu, NP_001337095.1:p.Ser24Ter, NP_001337093.1:p.Ser24Leu, NP_001337093.1:p.Ser24Ter, XP_006711018.1:p.Ser24Leu, XP_006711018.1:p.Ser24Ter, XP_047287983.1:p.Ser24Leu, XP_047287983.1:p.Ser24Ter, XP_047287982.1:p.Ser24Leu, XP_047287982.1:p.Ser24Ter, XP_047287985.1:p.Ser24Leu, XP_047287985.1:p.Ser24Ter, XP_047287986.1:p.Ser24Leu, XP_047287986.1:p.Ser24Ter, XP_047287987.1:p.Ser24Leu, XP_047287987.1:p.Ser24Ter, XP_047287988.1:p.Ser24Leu, XP_047287988.1:p.Ser24Ter, XP_047287989.1:p.Ser24Leu, XP_047287989.1:p.Ser24Ter

        4.

        rs1484929989 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          1:21721671 (GRCh38)
          1:22048164 (GRCh37)
          Canonical SPDI:
          NC_000001.11:21721670:A:T
          Gene:
          USP48 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.21721671A>T, NC_000001.10:g.22048164A>T, NG_047203.1:g.66529T>A, NM_032236.8:c.1742T>A, NM_032236.7:c.1742T>A, NM_032236.6:c.1742T>A, NM_032236.5:c.1742T>A, NM_001330394.3:c.1742T>A, NM_001330394.2:c.1742T>A, NM_001330394.1:c.1742T>A, NM_001350168.2:c.1742T>A, NM_001350168.1:c.1742T>A, NM_001350167.2:c.1739T>A, NM_001350167.1:c.1739T>A, NM_001350166.2:c.1739T>A, NM_001350166.1:c.1739T>A, NM_001350164.2:c.1541T>A, NM_001350164.1:c.1541T>A, XM_006710955.5:c.1544T>A, XM_006710955.4:c.1544T>A, XM_006710955.3:c.1544T>A, XM_006710955.2:c.1544T>A, XM_006710955.1:c.1544T>A, XM_011542267.4:c.500T>A, XM_011542267.3:c.500T>A, XM_011542267.2:c.500T>A, XM_011542267.1:c.500T>A, XM_011542268.3:c.500T>A, XM_011542268.2:c.500T>A, XM_011542268.1:c.500T>A, XM_011542264.2:c.1541T>A, XM_011542264.1:c.1541T>A, XM_047432027.1:c.1742T>A, XM_047432026.1:c.1739T>A, XM_047432029.1:c.1544T>A, XM_047432030.1:c.1541T>A, XM_047432031.1:c.1544T>A, XM_047432032.1:c.1742T>A, XM_047432033.1:c.1742T>A, NM_032759.1:c.-128T>A, NP_115612.4:p.Leu581Gln, NP_001317323.1:p.Leu581Gln, NP_001337097.1:p.Leu581Gln, NP_001337096.1:p.Leu580Gln, NP_001337095.1:p.Leu580Gln, NP_001337093.1:p.Leu514Gln, XP_006711018.1:p.Leu515Gln, XP_011540569.1:p.Leu167Gln, XP_011540570.1:p.Leu167Gln, XP_011540566.1:p.Leu514Gln, XP_047287983.1:p.Leu581Gln, XP_047287982.1:p.Leu580Gln, XP_047287985.1:p.Leu515Gln, XP_047287986.1:p.Leu514Gln, XP_047287987.1:p.Leu515Gln, XP_047287988.1:p.Leu581Gln, XP_047287989.1:p.Leu581Gln

          5.

          rs1484648788 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:21706498 (GRCh38)
            1:22032991 (GRCh37)
            Canonical SPDI:
            NC_000001.11:21706497:T:C
            Gene:
            USP48 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            NC_000001.11:g.21706498T>C, NC_000001.10:g.22032991T>C, NG_047203.1:g.81702A>G, NM_032236.8:c.2180A>G, NM_032236.7:c.2180A>G, NM_032236.6:c.2180A>G, NM_032236.5:c.2180A>G, NM_001330394.3:c.2180A>G, NM_001330394.2:c.2180A>G, NM_001330394.1:c.2180A>G, NM_001350168.2:c.2177A>G, NM_001350168.1:c.2177A>G, NM_001350167.2:c.2177A>G, NM_001350167.1:c.2177A>G, NM_001350166.2:c.2174A>G, NM_001350166.1:c.2174A>G, NM_001350164.2:c.1979A>G, NM_001350164.1:c.1979A>G, XM_006710955.5:c.1982A>G, XM_006710955.4:c.1982A>G, XM_006710955.3:c.1982A>G, XM_006710955.2:c.1982A>G, XM_006710955.1:c.1982A>G, XM_011542267.4:c.938A>G, XM_011542267.3:c.938A>G, XM_011542267.2:c.938A>G, XM_011542267.1:c.938A>G, XM_011542268.3:c.938A>G, XM_011542268.2:c.938A>G, XM_011542268.1:c.938A>G, XM_011542264.2:c.1979A>G, XM_011542264.1:c.1979A>G, XM_047432027.1:c.2177A>G, XM_047432026.1:c.2177A>G, XM_047432029.1:c.1979A>G, XM_047432030.1:c.1976A>G, XM_047432031.1:c.1982A>G, XM_047432032.1:c.2180A>G, XM_047432033.1:c.2177A>G, NM_018391.1:c.-164A>G, NP_115612.4:p.Lys727Arg, NP_001317323.1:p.Lys727Arg, NP_001337097.1:p.Lys726Arg, NP_001337096.1:p.Lys726Arg, NP_001337095.1:p.Lys725Arg, NP_001337093.1:p.Lys660Arg, XP_006711018.1:p.Lys661Arg, XP_011540569.1:p.Lys313Arg, XP_011540570.1:p.Lys313Arg, XP_011540566.1:p.Lys660Arg, XP_047287983.1:p.Lys726Arg, XP_047287982.1:p.Lys726Arg, XP_047287985.1:p.Lys660Arg, XP_047287986.1:p.Lys659Arg, XP_047287987.1:p.Lys661Arg, XP_047287988.1:p.Lys727Arg, XP_047287989.1:p.Lys726Arg

            6.

            rs1482538413 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:21721069 (GRCh38)
              1:22047562 (GRCh37)
              Canonical SPDI:
              NC_000001.11:21721068:T:C
              Gene:
              USP48 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000001.11:g.21721069T>C, NC_000001.10:g.22047562T>C, NG_047203.1:g.67131A>G, NM_032236.8:c.1861A>G, NM_032236.7:c.1861A>G, NM_032236.6:c.1861A>G, NM_032236.5:c.1861A>G, NM_001330394.3:c.1861A>G, NM_001330394.2:c.1861A>G, NM_001330394.1:c.1861A>G, NM_001350168.2:c.1858A>G, NM_001350168.1:c.1858A>G, NM_001350167.2:c.1858A>G, NM_001350167.1:c.1858A>G, NM_001350166.2:c.1855A>G, NM_001350166.1:c.1855A>G, NM_001350164.2:c.1660A>G, NM_001350164.1:c.1660A>G, XM_006710955.5:c.1663A>G, XM_006710955.4:c.1663A>G, XM_006710955.3:c.1663A>G, XM_006710955.2:c.1663A>G, XM_006710955.1:c.1663A>G, XM_011542267.4:c.619A>G, XM_011542267.3:c.619A>G, XM_011542267.2:c.619A>G, XM_011542267.1:c.619A>G, XM_011542268.3:c.619A>G, XM_011542268.2:c.619A>G, XM_011542268.1:c.619A>G, XM_011542264.2:c.1660A>G, XM_011542264.1:c.1660A>G, XM_047432027.1:c.1858A>G, XM_047432026.1:c.1858A>G, XM_047432029.1:c.1660A>G, XM_047432030.1:c.1657A>G, XM_047432031.1:c.1663A>G, XM_047432032.1:c.1861A>G, XM_047432033.1:c.1858A>G, NM_032759.1:c.-9A>G, NP_115612.4:p.Asn621Asp, NP_001317323.1:p.Asn621Asp, NP_001337097.1:p.Asn620Asp, NP_001337096.1:p.Asn620Asp, NP_001337095.1:p.Asn619Asp, NP_001337093.1:p.Asn554Asp, XP_006711018.1:p.Asn555Asp, XP_011540569.1:p.Asn207Asp, XP_011540570.1:p.Asn207Asp, XP_011540566.1:p.Asn554Asp, XP_047287983.1:p.Asn620Asp, XP_047287982.1:p.Asn620Asp, XP_047287985.1:p.Asn554Asp, XP_047287986.1:p.Asn553Asp, XP_047287987.1:p.Asn555Asp, XP_047287988.1:p.Asn621Asp, XP_047287989.1:p.Asn620Asp

              7.

              rs1481361898 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                1:21704276 (GRCh38)
                1:22030769 (GRCh37)
                Canonical SPDI:
                NC_000001.11:21704275:T:C
                Gene:
                USP48 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000224/1 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000106/2 (TOMMO)
                C=0.000223/1 (Estonian)
                HGVS:
                NC_000001.11:g.21704276T>C, NC_000001.10:g.22030769T>C, NG_047203.1:g.83924A>G, NM_032236.8:c.2501A>G, NM_032236.7:c.2501A>G, NM_032236.6:c.2501A>G, NM_032236.5:c.2501A>G, NM_001330394.3:c.2501A>G, NM_001330394.2:c.2501A>G, NM_001330394.1:c.2501A>G, NM_001350168.2:c.2498A>G, NM_001350168.1:c.2498A>G, NM_001350167.2:c.2498A>G, NM_001350167.1:c.2498A>G, NM_001350166.2:c.2495A>G, NM_001350166.1:c.2495A>G, NM_001350164.2:c.2300A>G, NM_001350164.1:c.2300A>G, XM_006710955.5:c.2303A>G, XM_006710955.4:c.2303A>G, XM_006710955.3:c.2303A>G, XM_006710955.2:c.2303A>G, XM_006710955.1:c.2303A>G, XM_011542267.4:c.1259A>G, XM_011542267.3:c.1259A>G, XM_011542267.2:c.1259A>G, XM_011542267.1:c.1259A>G, XM_011542268.3:c.1259A>G, XM_011542268.2:c.1259A>G, XM_011542268.1:c.1259A>G, XM_011542264.2:c.2300A>G, XM_011542264.1:c.2300A>G, XM_047432027.1:c.2498A>G, XM_047432026.1:c.2498A>G, XM_047432029.1:c.2300A>G, XM_047432030.1:c.2297A>G, XM_047432031.1:c.2303A>G, XM_047432032.1:c.*93A>G, XM_047432033.1:c.*93A>G, NM_018391.1:c.158A>G, NP_115612.4:p.Tyr834Cys, NP_001317323.1:p.Tyr834Cys, NP_001337097.1:p.Tyr833Cys, NP_001337096.1:p.Tyr833Cys, NP_001337095.1:p.Tyr832Cys, NP_001337093.1:p.Tyr767Cys, XP_006711018.1:p.Tyr768Cys, XP_011540569.1:p.Tyr420Cys, XP_011540570.1:p.Tyr420Cys, XP_011540566.1:p.Tyr767Cys, XP_047287983.1:p.Tyr833Cys, XP_047287982.1:p.Tyr833Cys, XP_047287985.1:p.Tyr767Cys, XP_047287986.1:p.Tyr766Cys, XP_047287987.1:p.Tyr768Cys

                8.

                rs1481034453 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  1:21736561 (GRCh38)
                  1:22063054 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:21736560:G:C
                  Gene:
                  USP48 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  HGVS:
                  NC_000001.11:g.21736561G>C, NC_000001.10:g.22063054G>C, NG_047203.1:g.51639C>G, NM_032236.8:c.1056C>G, NM_032236.7:c.1056C>G, NM_032236.6:c.1056C>G, NM_032236.5:c.1056C>G, NM_001330394.3:c.1056C>G, NM_001330394.2:c.1056C>G, NM_001330394.1:c.1056C>G, NM_001032730.3:c.1056C>G, NM_001032730.2:c.1056C>G, NM_001032730.1:c.1056C>G, NM_001350168.2:c.1056C>G, NM_001350168.1:c.1056C>G, NM_001350167.2:c.1056C>G, NM_001350167.1:c.1056C>G, NM_001350166.2:c.1056C>G, NM_001350166.1:c.1056C>G, NM_001350164.2:c.1056C>G, NM_001350164.1:c.1056C>G, XM_006710955.5:c.1056C>G, XM_006710955.4:c.1056C>G, XM_006710955.3:c.1056C>G, XM_006710955.2:c.1056C>G, XM_006710955.1:c.1056C>G, XM_011542264.2:c.855C>G, XM_011542264.1:c.855C>G, XM_047432027.1:c.1056C>G, XM_047432026.1:c.1056C>G, XM_047432029.1:c.1056C>G, XM_047432030.1:c.1056C>G, XM_047432031.1:c.1056C>G, XM_047432032.1:c.1056C>G, XM_047432033.1:c.1056C>G

                  9.

                  rs1479623983 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:21703587 (GRCh38)
                    1:22030080 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:21703586:C:T
                    Gene:
                    USP48 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,genic_downstream_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_000001.11:g.21703587C>T, NC_000001.10:g.22030080C>T, NG_047203.1:g.84613G>A, NM_032236.8:c.2547G>A, NM_032236.7:c.2547G>A, NM_032236.6:c.2547G>A, NM_032236.5:c.2547G>A, NM_001330394.3:c.2547G>A, NM_001330394.2:c.2547G>A, NM_001330394.1:c.2547G>A, NM_001350168.2:c.2544G>A, NM_001350168.1:c.2544G>A, NM_001350167.2:c.2544G>A, NM_001350167.1:c.2544G>A, NM_001350166.2:c.2541G>A, NM_001350166.1:c.2541G>A, NM_001350164.2:c.2346G>A, NM_001350164.1:c.2346G>A, XM_006710955.5:c.2349G>A, XM_006710955.4:c.2349G>A, XM_006710955.3:c.2349G>A, XM_006710955.2:c.2349G>A, XM_006710955.1:c.2349G>A, XM_011542267.4:c.1305G>A, XM_011542267.3:c.1305G>A, XM_011542267.2:c.1305G>A, XM_011542267.1:c.1305G>A, XM_011542268.3:c.1305G>A, XM_011542268.2:c.1305G>A, XM_011542268.1:c.1305G>A, XM_011542264.2:c.2346G>A, XM_011542264.1:c.2346G>A, XM_047432027.1:c.2544G>A, XM_047432026.1:c.2544G>A, XM_047432029.1:c.2346G>A, XM_047432030.1:c.2343G>A, XM_047432031.1:c.2349G>A, NM_018391.1:c.204G>A

                    10.

                    rs1477732547 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:21747113 (GRCh38)
                      1:22073606 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:21747112:A:G
                      Gene:
                      USP48 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000001.11:g.21747113A>G, NC_000001.10:g.22073606A>G, NG_047203.1:g.41087T>C, NM_032236.8:c.945T>C, NM_032236.7:c.945T>C, NM_032236.6:c.945T>C, NM_032236.5:c.945T>C, NM_001330394.3:c.945T>C, NM_001330394.2:c.945T>C, NM_001330394.1:c.945T>C, NM_001032730.3:c.945T>C, NM_001032730.2:c.945T>C, NM_001032730.1:c.945T>C, NM_001350168.2:c.945T>C, NM_001350168.1:c.945T>C, NM_001350167.2:c.945T>C, NM_001350167.1:c.945T>C, NM_001350166.2:c.945T>C, NM_001350166.1:c.945T>C, NM_001350164.2:c.945T>C, NM_001350164.1:c.945T>C, XM_006710955.5:c.945T>C, XM_006710955.4:c.945T>C, XM_006710955.3:c.945T>C, XM_006710955.2:c.945T>C, XM_006710955.1:c.945T>C, XM_011542264.2:c.744T>C, XM_011542264.1:c.744T>C, XM_047432027.1:c.945T>C, XM_047432026.1:c.945T>C, XM_047432029.1:c.945T>C, XM_047432030.1:c.945T>C, XM_047432031.1:c.945T>C, XM_047432032.1:c.945T>C, XM_047432033.1:c.945T>C

                      11.

                      rs1477050602 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:21756656 (GRCh38)
                        1:22083149 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:21756655:T:C
                        Gene:
                        USP48 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.21756656T>C, NC_000001.10:g.22083149T>C, NG_047203.1:g.31544A>G, NM_032236.8:c.302A>G, NM_032236.7:c.302A>G, NM_032236.6:c.302A>G, NM_032236.5:c.302A>G, NM_001330394.3:c.302A>G, NM_001330394.2:c.302A>G, NM_001330394.1:c.302A>G, NM_001032730.3:c.302A>G, NM_001032730.2:c.302A>G, NM_001032730.1:c.302A>G, NM_001350168.2:c.302A>G, NM_001350168.1:c.302A>G, NM_001350167.2:c.302A>G, NM_001350167.1:c.302A>G, NM_001350166.2:c.302A>G, NM_001350166.1:c.302A>G, NM_001350164.2:c.302A>G, NM_001350164.1:c.302A>G, XM_006710955.5:c.302A>G, XM_006710955.4:c.302A>G, XM_006710955.3:c.302A>G, XM_006710955.2:c.302A>G, XM_006710955.1:c.302A>G, XM_011542264.2:c.101A>G, XM_011542264.1:c.101A>G, XM_047432027.1:c.302A>G, XM_047432026.1:c.302A>G, XM_047432029.1:c.302A>G, XM_047432030.1:c.302A>G, XM_047432031.1:c.302A>G, XM_047432032.1:c.302A>G, XM_047432033.1:c.302A>G, NP_115612.4:p.Asn101Ser, NP_001317323.1:p.Asn101Ser, NP_001027902.1:p.Asn101Ser, NP_001337097.1:p.Asn101Ser, NP_001337096.1:p.Asn101Ser, NP_001337095.1:p.Asn101Ser, NP_001337093.1:p.Asn101Ser, XP_006711018.1:p.Asn101Ser, XP_011540566.1:p.Asn34Ser, XP_047287983.1:p.Asn101Ser, XP_047287982.1:p.Asn101Ser, XP_047287985.1:p.Asn101Ser, XP_047287986.1:p.Asn101Ser, XP_047287987.1:p.Asn101Ser, XP_047287988.1:p.Asn101Ser, XP_047287989.1:p.Asn101Ser

                        12.

                        rs1474143320 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:21757781 (GRCh38)
                          1:22084274 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:21757780:C:T
                          Gene:
                          USP48 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          HGVS:
                          NC_000001.11:g.21757781C>T, NC_000001.10:g.22084274C>T, NG_047203.1:g.30419G>A, NM_032236.8:c.137G>A, NM_032236.7:c.137G>A, NM_032236.6:c.137G>A, NM_032236.5:c.137G>A, NM_001330394.3:c.137G>A, NM_001330394.2:c.137G>A, NM_001330394.1:c.137G>A, NM_001032730.3:c.137G>A, NM_001032730.2:c.137G>A, NM_001032730.1:c.137G>A, NM_001350168.2:c.137G>A, NM_001350168.1:c.137G>A, NM_001350167.2:c.137G>A, NM_001350167.1:c.137G>A, NM_001350166.2:c.137G>A, NM_001350166.1:c.137G>A, NM_001350164.2:c.137G>A, NM_001350164.1:c.137G>A, XM_006710955.5:c.137G>A, XM_006710955.4:c.137G>A, XM_006710955.3:c.137G>A, XM_006710955.2:c.137G>A, XM_006710955.1:c.137G>A, XM_047432027.1:c.137G>A, XM_047432026.1:c.137G>A, XM_047432029.1:c.137G>A, XM_047432030.1:c.137G>A, XM_047432031.1:c.137G>A, XM_047432032.1:c.137G>A, XM_047432033.1:c.137G>A, NP_115612.4:p.Arg46Gln, NP_001317323.1:p.Arg46Gln, NP_001027902.1:p.Arg46Gln, NP_001337097.1:p.Arg46Gln, NP_001337096.1:p.Arg46Gln, NP_001337095.1:p.Arg46Gln, NP_001337093.1:p.Arg46Gln, XP_006711018.1:p.Arg46Gln, XP_047287983.1:p.Arg46Gln, XP_047287982.1:p.Arg46Gln, XP_047287985.1:p.Arg46Gln, XP_047287986.1:p.Arg46Gln, XP_047287987.1:p.Arg46Gln, XP_047287988.1:p.Arg46Gln, XP_047287989.1:p.Arg46Gln

                          13.

                          rs1471073141 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,C [Show Flanks]
                            Chromosome:
                            1:21705761 (GRCh38)
                            1:22032254 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:21705760:T:A,NC_000001.11:21705760:T:C
                            Gene:
                            USP48 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000001.11:g.21705761T>A, NC_000001.11:g.21705761T>C, NC_000001.10:g.22032254T>A, NC_000001.10:g.22032254T>C, NG_047203.1:g.82439A>T, NG_047203.1:g.82439A>G, NM_032236.8:c.2350A>T, NM_032236.8:c.2350A>G, NM_032236.7:c.2350A>T, NM_032236.7:c.2350A>G, NM_032236.6:c.2350A>T, NM_032236.6:c.2350A>G, NM_032236.5:c.2350A>T, NM_032236.5:c.2350A>G, NM_001330394.3:c.2350A>T, NM_001330394.3:c.2350A>G, NM_001330394.2:c.2350A>T, NM_001330394.2:c.2350A>G, NM_001330394.1:c.2350A>T, NM_001330394.1:c.2350A>G, NM_001350168.2:c.2347A>T, NM_001350168.2:c.2347A>G, NM_001350168.1:c.2347A>T, NM_001350168.1:c.2347A>G, NM_001350167.2:c.2347A>T, NM_001350167.2:c.2347A>G, NM_001350167.1:c.2347A>T, NM_001350167.1:c.2347A>G, NM_001350166.2:c.2344A>T, NM_001350166.2:c.2344A>G, NM_001350166.1:c.2344A>T, NM_001350166.1:c.2344A>G, NM_001350164.2:c.2149A>T, NM_001350164.2:c.2149A>G, NM_001350164.1:c.2149A>T, NM_001350164.1:c.2149A>G, XM_006710955.5:c.2152A>T, XM_006710955.5:c.2152A>G, XM_006710955.4:c.2152A>T, XM_006710955.4:c.2152A>G, XM_006710955.3:c.2152A>T, XM_006710955.3:c.2152A>G, XM_006710955.2:c.2152A>T, XM_006710955.2:c.2152A>G, XM_006710955.1:c.2152A>T, XM_006710955.1:c.2152A>G, XM_011542267.4:c.1108A>T, XM_011542267.4:c.1108A>G, XM_011542267.3:c.1108A>T, XM_011542267.3:c.1108A>G, XM_011542267.2:c.1108A>T, XM_011542267.2:c.1108A>G, XM_011542267.1:c.1108A>T, XM_011542267.1:c.1108A>G, XM_011542268.3:c.1108A>T, XM_011542268.3:c.1108A>G, XM_011542268.2:c.1108A>T, XM_011542268.2:c.1108A>G, XM_011542268.1:c.1108A>T, XM_011542268.1:c.1108A>G, XM_011542264.2:c.2149A>T, XM_011542264.2:c.2149A>G, XM_011542264.1:c.2149A>T, XM_011542264.1:c.2149A>G, XM_047432027.1:c.2347A>T, XM_047432027.1:c.2347A>G, XM_047432026.1:c.2347A>T, XM_047432026.1:c.2347A>G, XM_047432029.1:c.2149A>T, XM_047432029.1:c.2149A>G, XM_047432030.1:c.2146A>T, XM_047432030.1:c.2146A>G, XM_047432031.1:c.2152A>T, XM_047432031.1:c.2152A>G, XM_047432032.1:c.2350A>T, XM_047432032.1:c.2350A>G, XM_047432033.1:c.2347A>T, XM_047432033.1:c.2347A>G, NM_018391.1:c.7A>T, NM_018391.1:c.7A>G, NP_115612.4:p.Thr784Ser, NP_115612.4:p.Thr784Ala, NP_001317323.1:p.Thr784Ser, NP_001317323.1:p.Thr784Ala, NP_001337097.1:p.Thr783Ser, NP_001337097.1:p.Thr783Ala, NP_001337096.1:p.Thr783Ser, NP_001337096.1:p.Thr783Ala, NP_001337095.1:p.Thr782Ser, NP_001337095.1:p.Thr782Ala, NP_001337093.1:p.Thr717Ser, NP_001337093.1:p.Thr717Ala, XP_006711018.1:p.Thr718Ser, XP_006711018.1:p.Thr718Ala, XP_011540569.1:p.Thr370Ser, XP_011540569.1:p.Thr370Ala, XP_011540570.1:p.Thr370Ser, XP_011540570.1:p.Thr370Ala, XP_011540566.1:p.Thr717Ser, XP_011540566.1:p.Thr717Ala, XP_047287983.1:p.Thr783Ser, XP_047287983.1:p.Thr783Ala, XP_047287982.1:p.Thr783Ser, XP_047287982.1:p.Thr783Ala, XP_047287985.1:p.Thr717Ser, XP_047287985.1:p.Thr717Ala, XP_047287986.1:p.Thr716Ser, XP_047287986.1:p.Thr716Ala, XP_047287987.1:p.Thr718Ser, XP_047287987.1:p.Thr718Ala, XP_047287988.1:p.Thr784Ser, XP_047287988.1:p.Thr784Ala, XP_047287989.1:p.Thr783Ser, XP_047287989.1:p.Thr783Ala

                            14.

                            rs1471034604 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:21703578 (GRCh38)
                              1:22030071 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:21703577:C:A
                              Gene:
                              USP48 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              HGVS:
                              NC_000001.11:g.21703578C>A, NC_000001.10:g.22030071C>A, NG_047203.1:g.84622G>T, NM_032236.8:c.2556G>T, NM_032236.7:c.2556G>T, NM_032236.6:c.2556G>T, NM_032236.5:c.2556G>T, NM_001330394.3:c.2556G>T, NM_001330394.2:c.2556G>T, NM_001330394.1:c.2556G>T, NM_001350168.2:c.2553G>T, NM_001350168.1:c.2553G>T, NM_001350167.2:c.2553G>T, NM_001350167.1:c.2553G>T, NM_001350166.2:c.2550G>T, NM_001350166.1:c.2550G>T, NM_001350164.2:c.2355G>T, NM_001350164.1:c.2355G>T, XM_006710955.5:c.2358G>T, XM_006710955.4:c.2358G>T, XM_006710955.3:c.2358G>T, XM_006710955.2:c.2358G>T, XM_006710955.1:c.2358G>T, XM_011542267.4:c.1314G>T, XM_011542267.3:c.1314G>T, XM_011542267.2:c.1314G>T, XM_011542267.1:c.1314G>T, XM_011542268.3:c.1314G>T, XM_011542268.2:c.1314G>T, XM_011542268.1:c.1314G>T, XM_011542264.2:c.2355G>T, XM_011542264.1:c.2355G>T, XM_047432027.1:c.2553G>T, XM_047432026.1:c.2553G>T, XM_047432029.1:c.2355G>T, XM_047432030.1:c.2352G>T, XM_047432031.1:c.2358G>T, NM_018391.1:c.213G>T, NP_115612.4:p.Gln852His, NP_001317323.1:p.Gln852His, NP_001337097.1:p.Gln851His, NP_001337096.1:p.Gln851His, NP_001337095.1:p.Gln850His, NP_001337093.1:p.Gln785His, XP_006711018.1:p.Gln786His, XP_011540569.1:p.Gln438His, XP_011540570.1:p.Gln438His, XP_011540566.1:p.Gln785His, XP_047287983.1:p.Gln851His, XP_047287982.1:p.Gln851His, XP_047287985.1:p.Gln785His, XP_047287986.1:p.Gln784His, XP_047287987.1:p.Gln786His

                              15.

                              rs1470433628 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                1:21751609 (GRCh38)
                                1:22078102 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:21751608:G:C
                                Gene:
                                USP48 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000001.11:g.21751609G>C, NC_000001.10:g.22078102G>C, NG_047203.1:g.36591C>G, NM_032236.8:c.672C>G, NM_032236.7:c.672C>G, NM_032236.6:c.672C>G, NM_032236.5:c.672C>G, NM_001330394.3:c.672C>G, NM_001330394.2:c.672C>G, NM_001330394.1:c.672C>G, NM_001032730.3:c.672C>G, NM_001032730.2:c.672C>G, NM_001032730.1:c.672C>G, NM_001350168.2:c.672C>G, NM_001350168.1:c.672C>G, NM_001350167.2:c.672C>G, NM_001350167.1:c.672C>G, NM_001350166.2:c.672C>G, NM_001350166.1:c.672C>G, NM_001350164.2:c.672C>G, NM_001350164.1:c.672C>G, XM_006710955.5:c.672C>G, XM_006710955.4:c.672C>G, XM_006710955.3:c.672C>G, XM_006710955.2:c.672C>G, XM_006710955.1:c.672C>G, XM_011542264.2:c.471C>G, XM_011542264.1:c.471C>G, XM_047432027.1:c.672C>G, XM_047432026.1:c.672C>G, XM_047432029.1:c.672C>G, XM_047432030.1:c.672C>G, XM_047432031.1:c.672C>G, XM_047432032.1:c.672C>G, XM_047432033.1:c.672C>G, NP_115612.4:p.Asn224Lys, NP_001317323.1:p.Asn224Lys, NP_001027902.1:p.Asn224Lys, NP_001337097.1:p.Asn224Lys, NP_001337096.1:p.Asn224Lys, NP_001337095.1:p.Asn224Lys, NP_001337093.1:p.Asn224Lys, XP_006711018.1:p.Asn224Lys, XP_011540566.1:p.Asn157Lys, XP_047287983.1:p.Asn224Lys, XP_047287982.1:p.Asn224Lys, XP_047287985.1:p.Asn224Lys, XP_047287986.1:p.Asn224Lys, XP_047287987.1:p.Asn224Lys, XP_047287988.1:p.Asn224Lys, XP_047287989.1:p.Asn224Lys

                                16.

                                rs1469927988 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:21695066 (GRCh38)
                                  1:22021559 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:21695065:C:A
                                  Gene:
                                  USP48 (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.21695066C>A, NC_000001.10:g.22021559C>A, NG_047203.1:g.93134G>T, NM_032236.8:c.2883G>T, NM_032236.7:c.2883G>T, NM_032236.6:c.2883G>T, NM_032236.5:c.2883G>T, NM_001350168.2:c.2880G>T, NM_001350168.1:c.2880G>T, NM_001350167.2:c.2880G>T, NM_001350167.1:c.2880G>T, NM_001350166.2:c.2877G>T, NM_001350166.1:c.2877G>T, NM_001350164.2:c.2682G>T, NM_001350164.1:c.2682G>T, XM_006710955.5:c.2685G>T, XM_006710955.4:c.2685G>T, XM_006710955.3:c.2685G>T, XM_006710955.2:c.2685G>T, XM_006710955.1:c.2685G>T, XM_011542267.4:c.1641G>T, XM_011542267.3:c.1641G>T, XM_011542267.2:c.1641G>T, XM_011542267.1:c.1641G>T, XM_011542268.3:c.1641G>T, XM_011542268.2:c.1641G>T, XM_011542268.1:c.1641G>T, XM_011542264.2:c.2682G>T, XM_011542264.1:c.2682G>T, XM_047432029.1:c.2682G>T, XM_047432030.1:c.2679G>T, NM_018391.1:c.540G>T, NP_115612.4:p.Gln961His, NP_001337097.1:p.Gln960His, NP_001337096.1:p.Gln960His, NP_001337095.1:p.Gln959His, NP_001337093.1:p.Gln894His, XP_006711018.1:p.Gln895His, XP_011540569.1:p.Gln547His, XP_011540570.1:p.Gln547His, XP_011540566.1:p.Gln894His, XP_047287985.1:p.Gln894His, XP_047287986.1:p.Gln893His

                                  17.

                                  rs1469194735 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:21736551 (GRCh38)
                                    1:22063044 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:21736550:C:T
                                    Gene:
                                    USP48 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.21736551C>T, NC_000001.10:g.22063044C>T, NG_047203.1:g.51649G>A, NM_032236.8:c.1066G>A, NM_032236.7:c.1066G>A, NM_032236.6:c.1066G>A, NM_032236.5:c.1066G>A, NM_001330394.3:c.1066G>A, NM_001330394.2:c.1066G>A, NM_001330394.1:c.1066G>A, NM_001032730.3:c.1066G>A, NM_001032730.2:c.1066G>A, NM_001032730.1:c.1066G>A, NM_001350168.2:c.1066G>A, NM_001350168.1:c.1066G>A, NM_001350167.2:c.1066G>A, NM_001350167.1:c.1066G>A, NM_001350166.2:c.1066G>A, NM_001350166.1:c.1066G>A, NM_001350164.2:c.1066G>A, NM_001350164.1:c.1066G>A, XM_006710955.5:c.1066G>A, XM_006710955.4:c.1066G>A, XM_006710955.3:c.1066G>A, XM_006710955.2:c.1066G>A, XM_006710955.1:c.1066G>A, XM_011542264.2:c.865G>A, XM_011542264.1:c.865G>A, XM_047432027.1:c.1066G>A, XM_047432026.1:c.1066G>A, XM_047432029.1:c.1066G>A, XM_047432030.1:c.1066G>A, XM_047432031.1:c.1066G>A, XM_047432032.1:c.1066G>A, XM_047432033.1:c.1066G>A, NP_115612.4:p.Ala356Thr, NP_001317323.1:p.Ala356Thr, NP_001027902.1:p.Ala356Thr, NP_001337097.1:p.Ala356Thr, NP_001337096.1:p.Ala356Thr, NP_001337095.1:p.Ala356Thr, NP_001337093.1:p.Ala356Thr, XP_006711018.1:p.Ala356Thr, XP_011540566.1:p.Ala289Thr, XP_047287983.1:p.Ala356Thr, XP_047287982.1:p.Ala356Thr, XP_047287985.1:p.Ala356Thr, XP_047287986.1:p.Ala356Thr, XP_047287987.1:p.Ala356Thr, XP_047287988.1:p.Ala356Thr, XP_047287989.1:p.Ala356Thr

                                    18.

                                    rs1467693401 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      1:21782898 (GRCh38)
                                      1:22109391 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:21782897:G:A,NC_000001.11:21782897:G:C
                                      Gene:
                                      USP48 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000025/1 (ALFA)
                                      C=0.000007/1 (GnomAD_exomes)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000001.11:g.21782898G>A, NC_000001.11:g.21782898G>C, NC_000001.10:g.22109391G>A, NC_000001.10:g.22109391G>C, NG_047203.1:g.5302C>T, NG_047203.1:g.5302C>G, NM_032236.8:c.60C>T, NM_032236.8:c.60C>G, NM_032236.7:c.60C>T, NM_032236.7:c.60C>G, NM_032236.6:c.60C>T, NM_032236.6:c.60C>G, NM_032236.5:c.60C>T, NM_032236.5:c.60C>G, NM_001330394.3:c.60C>T, NM_001330394.3:c.60C>G, NM_001330394.2:c.60C>T, NM_001330394.2:c.60C>G, NM_001330394.1:c.60C>T, NM_001330394.1:c.60C>G, NM_001032730.3:c.60C>T, NM_001032730.3:c.60C>G, NM_001032730.2:c.60C>T, NM_001032730.2:c.60C>G, NM_001032730.1:c.60C>T, NM_001032730.1:c.60C>G, NM_001350168.2:c.60C>T, NM_001350168.2:c.60C>G, NM_001350168.1:c.60C>T, NM_001350168.1:c.60C>G, NM_001350167.2:c.60C>T, NM_001350167.2:c.60C>G, NM_001350167.1:c.60C>T, NM_001350167.1:c.60C>G, NM_001350166.2:c.60C>T, NM_001350166.2:c.60C>G, NM_001350166.1:c.60C>T, NM_001350166.1:c.60C>G, NM_001350164.2:c.60C>T, NM_001350164.2:c.60C>G, NM_001350164.1:c.60C>T, NM_001350164.1:c.60C>G, XM_006710955.5:c.60C>T, XM_006710955.5:c.60C>G, XM_006710955.4:c.60C>T, XM_006710955.4:c.60C>G, XM_006710955.3:c.60C>T, XM_006710955.3:c.60C>G, XM_006710955.2:c.60C>T, XM_006710955.2:c.60C>G, XM_006710955.1:c.60C>T, XM_006710955.1:c.60C>G, XM_047432027.1:c.60C>T, XM_047432027.1:c.60C>G, XM_047432026.1:c.60C>T, XM_047432026.1:c.60C>G, XM_047432029.1:c.60C>T, XM_047432029.1:c.60C>G, XM_047432030.1:c.60C>T, XM_047432030.1:c.60C>G, XM_047432031.1:c.60C>T, XM_047432031.1:c.60C>G, XM_047432032.1:c.60C>T, XM_047432032.1:c.60C>G, XM_047432033.1:c.60C>T, XM_047432033.1:c.60C>G

                                      19.

                                      rs1467538189 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:21757755 (GRCh38)
                                        1:22084248 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:21757754:A:G
                                        Gene:
                                        USP48 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.21757755A>G, NC_000001.10:g.22084248A>G, NG_047203.1:g.30445T>C, NM_032236.8:c.163T>C, NM_032236.7:c.163T>C, NM_032236.6:c.163T>C, NM_032236.5:c.163T>C, NM_001330394.3:c.163T>C, NM_001330394.2:c.163T>C, NM_001330394.1:c.163T>C, NM_001032730.3:c.163T>C, NM_001032730.2:c.163T>C, NM_001032730.1:c.163T>C, NM_001350168.2:c.163T>C, NM_001350168.1:c.163T>C, NM_001350167.2:c.163T>C, NM_001350167.1:c.163T>C, NM_001350166.2:c.163T>C, NM_001350166.1:c.163T>C, NM_001350164.2:c.163T>C, NM_001350164.1:c.163T>C, XM_006710955.5:c.163T>C, XM_006710955.4:c.163T>C, XM_006710955.3:c.163T>C, XM_006710955.2:c.163T>C, XM_006710955.1:c.163T>C, XM_047432027.1:c.163T>C, XM_047432026.1:c.163T>C, XM_047432029.1:c.163T>C, XM_047432030.1:c.163T>C, XM_047432031.1:c.163T>C, XM_047432032.1:c.163T>C, XM_047432033.1:c.163T>C

                                        20.

                                        rs1465901168 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          1:21706863 (GRCh38)
                                          1:22033356 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:21706862:A:C
                                          Gene:
                                          USP48 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_downstream_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_000001.11:g.21706863A>C, NC_000001.10:g.22033356A>C, NG_047203.1:g.81337T>G, NM_032236.8:c.1969T>G, NM_032236.7:c.1969T>G, NM_032236.6:c.1969T>G, NM_032236.5:c.1969T>G, NM_001330394.3:c.1969T>G, NM_001330394.2:c.1969T>G, NM_001330394.1:c.1969T>G, NM_001350168.2:c.1966T>G, NM_001350168.1:c.1966T>G, NM_001350167.2:c.1966T>G, NM_001350167.1:c.1966T>G, NM_001350166.2:c.1963T>G, NM_001350166.1:c.1963T>G, NM_001350164.2:c.1768T>G, NM_001350164.1:c.1768T>G, XM_006710955.5:c.1771T>G, XM_006710955.4:c.1771T>G, XM_006710955.3:c.1771T>G, XM_006710955.2:c.1771T>G, XM_006710955.1:c.1771T>G, XM_011542267.4:c.727T>G, XM_011542267.3:c.727T>G, XM_011542267.2:c.727T>G, XM_011542267.1:c.727T>G, XM_011542268.3:c.727T>G, XM_011542268.2:c.727T>G, XM_011542268.1:c.727T>G, XM_011542264.2:c.1768T>G, XM_011542264.1:c.1768T>G, XM_047432027.1:c.1966T>G, XM_047432026.1:c.1966T>G, XM_047432029.1:c.1768T>G, XM_047432030.1:c.1765T>G, XM_047432031.1:c.1771T>G, XM_047432032.1:c.1969T>G, XM_047432033.1:c.1966T>G, NM_032759.1:c.100T>G, NP_115612.4:p.Leu657Val, NP_001317323.1:p.Leu657Val, NP_001337097.1:p.Leu656Val, NP_001337096.1:p.Leu656Val, NP_001337095.1:p.Leu655Val, NP_001337093.1:p.Leu590Val, XP_006711018.1:p.Leu591Val, XP_011540569.1:p.Leu243Val, XP_011540570.1:p.Leu243Val, XP_011540566.1:p.Leu590Val, XP_047287983.1:p.Leu656Val, XP_047287982.1:p.Leu656Val, XP_047287985.1:p.Leu590Val, XP_047287986.1:p.Leu589Val, XP_047287987.1:p.Leu591Val, XP_047287988.1:p.Leu657Val, XP_047287989.1:p.Leu656Val

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