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Items: 1 to 20 of 954

1.

rs1490322867 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:109499724 (GRCh38)
    12:109937529 (GRCh37)
    Canonical SPDI:
    NC_000012.12:109499723:C:T
    Gene:
    UBE3B (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000012.12:g.109499724C>T, NC_000012.11:g.109937529C>T, NG_033898.1:g.27102C>T, NM_130466.4:c.1032C>T, NM_130466.3:c.1032C>T, NM_183415.3:c.1032C>T, NM_183415.2:c.1032C>T, XM_006719681.4:c.1032C>T, XM_006719681.3:c.1032C>T, XM_006719681.2:c.1032C>T, XM_006719681.1:c.1032C>T, XM_006719682.3:c.1032C>T, XM_006719682.2:c.1032C>T, XM_006719682.1:c.1032C>T, XM_005253987.3:c.1032C>T, XM_005253987.2:c.1032C>T, XM_005253987.1:c.1032C>T, XM_011538959.3:c.1032C>T, XM_011538959.2:c.1032C>T, XM_011538959.1:c.1032C>T, XM_011538961.2:c.1032C>T, XM_011538961.1:c.1032C>T, XM_047429852.1:c.1032C>T, XM_047429851.1:c.1032C>T, XM_047429844.1:c.1032C>T, XM_047429845.1:c.1032C>T, XM_047429847.1:c.1032C>T, XM_047429846.1:c.1032C>T, XM_047429849.1:c.1032C>T, XM_047429848.1:c.1032C>T, XM_047429850.1:c.1032C>T, NM_183414.1:c.1032C>T, XM_047429853.1:c.1032C>T, XM_047429854.1:c.1032C>T

    2.

    rs1488346348 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:109501495 (GRCh38)
      12:109939300 (GRCh37)
      Canonical SPDI:
      NC_000012.12:109501494:G:A
      Gene:
      UBE3B (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      A=0.000014/2 (GnomAD)
      HGVS:
      NC_000012.12:g.109501495G>A, NC_000012.11:g.109939300G>A, NG_033898.1:g.28873G>A, NM_130466.4:c.1243G>A, NM_130466.3:c.1243G>A, NM_183415.3:c.1243G>A, NM_183415.2:c.1243G>A, XM_006719681.4:c.1243G>A, XM_006719681.3:c.1243G>A, XM_006719681.2:c.1243G>A, XM_006719681.1:c.1243G>A, XM_006719682.3:c.1243G>A, XM_006719682.2:c.1243G>A, XM_006719682.1:c.1243G>A, XM_005253987.3:c.1243G>A, XM_005253987.2:c.1243G>A, XM_005253987.1:c.1243G>A, XM_011538959.3:c.1243G>A, XM_011538959.2:c.1243G>A, XM_011538959.1:c.1243G>A, XM_011538961.2:c.1243G>A, XM_011538961.1:c.1243G>A, XM_047429852.1:c.1243G>A, XM_047429851.1:c.1243G>A, XM_047429844.1:c.1243G>A, XM_047429845.1:c.1243G>A, XM_047429847.1:c.1243G>A, XM_047429846.1:c.1243G>A, XM_047429849.1:c.1243G>A, XM_047429848.1:c.1243G>A, XM_047429850.1:c.1243G>A, NM_183414.1:c.1243G>A, XM_047429853.1:c.1243G>A, XM_047429854.1:c.1243G>A, NP_569733.2:p.Ala415Thr, NP_904324.1:p.Ala415Thr, XP_006719744.1:p.Ala415Thr, XP_006719745.1:p.Ala415Thr, XP_005254044.1:p.Ala415Thr, XP_011537261.1:p.Ala415Thr, XP_011537263.1:p.Ala415Thr, XP_047285808.1:p.Ala415Thr, XP_047285807.1:p.Ala415Thr, XP_047285800.1:p.Ala415Thr, XP_047285801.1:p.Ala415Thr, XP_047285803.1:p.Ala415Thr, XP_047285802.1:p.Ala415Thr, XP_047285805.1:p.Ala415Thr, XP_047285804.1:p.Ala415Thr, XP_047285806.1:p.Ala415Thr, XP_047285809.1:p.Ala415Thr, XP_047285810.1:p.Ala415Thr

      3.

      rs1487035008 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:109483676 (GRCh38)
        12:109921481 (GRCh37)
        Canonical SPDI:
        NC_000012.12:109483675:G:A
        Gene:
        UBE3B (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000224/1 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000223/1 (Estonian)
        HGVS:
        NC_000012.12:g.109483676G>A, NC_000012.11:g.109921481G>A, NG_033898.1:g.11054G>A, NM_130466.4:c.125G>A, NM_130466.3:c.125G>A, NM_183415.3:c.125G>A, NM_183415.2:c.125G>A, NM_001270449.2:c.125G>A, NM_001270449.1:c.125G>A, NM_001270451.2:c.125G>A, NM_001270451.1:c.125G>A, NM_001270450.2:c.125G>A, NM_001270450.1:c.125G>A, XM_006719681.4:c.125G>A, XM_006719681.3:c.125G>A, XM_006719681.2:c.125G>A, XM_006719681.1:c.125G>A, XM_006719682.3:c.125G>A, XM_006719682.2:c.125G>A, XM_006719682.1:c.125G>A, XM_005253987.3:c.125G>A, XM_005253987.2:c.125G>A, XM_005253987.1:c.125G>A, XM_011538959.3:c.125G>A, XM_011538959.2:c.125G>A, XM_011538959.1:c.125G>A, XM_011538961.2:c.125G>A, XM_011538961.1:c.125G>A, XM_017020196.2:c.125G>A, XM_017020196.1:c.125G>A, XM_047429852.1:c.125G>A, XM_047429851.1:c.125G>A, XM_047429844.1:c.125G>A, XM_047429845.1:c.125G>A, XM_047429847.1:c.125G>A, XM_047429846.1:c.125G>A, XM_047429849.1:c.125G>A, XM_047429848.1:c.125G>A, XM_047429850.1:c.125G>A, NM_183414.1:c.125G>A, XM_047429853.1:c.125G>A, XM_047429854.1:c.125G>A, NP_569733.2:p.Ser42Asn, NP_904324.1:p.Ser42Asn, NP_001257378.1:p.Ser42Asn, NP_001257380.1:p.Ser42Asn, NP_001257379.1:p.Ser42Asn, XP_006719744.1:p.Ser42Asn, XP_006719745.1:p.Ser42Asn, XP_005254044.1:p.Ser42Asn, XP_011537261.1:p.Ser42Asn, XP_011537263.1:p.Ser42Asn, XP_016875685.1:p.Ser42Asn, XP_047285808.1:p.Ser42Asn, XP_047285807.1:p.Ser42Asn, XP_047285800.1:p.Ser42Asn, XP_047285801.1:p.Ser42Asn, XP_047285803.1:p.Ser42Asn, XP_047285802.1:p.Ser42Asn, XP_047285805.1:p.Ser42Asn, XP_047285804.1:p.Ser42Asn, XP_047285806.1:p.Ser42Asn, XP_047285809.1:p.Ser42Asn, XP_047285810.1:p.Ser42Asn

        4.

        rs1486855627 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          12:109521264 (GRCh38)
          12:109959069 (GRCh37)
          Canonical SPDI:
          NC_000012.12:109521263:T:G
          Gene:
          UBE3B (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.109521264T>G, NC_000012.11:g.109959069T>G, NG_033898.1:g.48642T>G, NM_130466.4:c.2193T>G, NM_130466.3:c.2193T>G, NM_183415.3:c.2193T>G, NM_183415.2:c.2193T>G, XM_006719681.4:c.2193T>G, XM_006719681.3:c.2193T>G, XM_006719681.2:c.2193T>G, XM_006719681.1:c.2193T>G, XM_006719682.3:c.2193T>G, XM_006719682.2:c.2193T>G, XM_006719682.1:c.2193T>G, XM_005253987.3:c.2193T>G, XM_005253987.2:c.2193T>G, XM_005253987.1:c.2193T>G, XM_011538959.3:c.2193T>G, XM_011538959.2:c.2193T>G, XM_011538959.1:c.2193T>G, XM_011538961.2:c.2193T>G, XM_011538961.1:c.2193T>G, XM_047429852.1:c.2193T>G, XM_047429851.1:c.2193T>G, XM_047429844.1:c.2193T>G, XM_047429845.1:c.2193T>G, XM_047429847.1:c.2193T>G, XM_047429846.1:c.2193T>G, XM_047429849.1:c.2193T>G, XM_047429848.1:c.2193T>G, XM_047429850.1:c.2193T>G, NM_183414.1:c.*163T>G, XM_047429853.1:c.2193T>G, NP_569733.2:p.Phe731Leu, NP_904324.1:p.Phe731Leu, XP_006719744.1:p.Phe731Leu, XP_006719745.1:p.Phe731Leu, XP_005254044.1:p.Phe731Leu, XP_011537261.1:p.Phe731Leu, XP_011537263.1:p.Phe731Leu, XP_047285808.1:p.Phe731Leu, XP_047285807.1:p.Phe731Leu, XP_047285800.1:p.Phe731Leu, XP_047285801.1:p.Phe731Leu, XP_047285803.1:p.Phe731Leu, XP_047285802.1:p.Phe731Leu, XP_047285805.1:p.Phe731Leu, XP_047285804.1:p.Phe731Leu, XP_047285806.1:p.Phe731Leu, XP_047285809.1:p.Phe731Leu

          5.

          rs1481365359 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:109490000 (GRCh38)
            12:109927805 (GRCh37)
            Canonical SPDI:
            NC_000012.12:109489999:T:C
            Gene:
            UBE3B (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.109490000T>C, NC_000012.11:g.109927805T>C, NG_033898.1:g.17378T>C, NM_130466.4:c.626T>C, NM_130466.3:c.626T>C, NM_183415.3:c.626T>C, NM_183415.2:c.626T>C, NM_001270449.2:c.626T>C, NM_001270449.1:c.626T>C, NM_001270451.2:c.626T>C, NM_001270451.1:c.626T>C, NM_001270450.2:c.626T>C, NM_001270450.1:c.626T>C, XM_006719681.4:c.626T>C, XM_006719681.3:c.626T>C, XM_006719681.2:c.626T>C, XM_006719681.1:c.626T>C, XM_006719682.3:c.626T>C, XM_006719682.2:c.626T>C, XM_006719682.1:c.626T>C, XM_005253987.3:c.626T>C, XM_005253987.2:c.626T>C, XM_005253987.1:c.626T>C, XM_011538959.3:c.626T>C, XM_011538959.2:c.626T>C, XM_011538959.1:c.626T>C, XM_011538961.2:c.626T>C, XM_011538961.1:c.626T>C, XM_017020196.2:c.626T>C, XM_017020196.1:c.626T>C, XM_047429852.1:c.626T>C, XM_047429851.1:c.626T>C, XM_047429844.1:c.626T>C, XM_047429845.1:c.626T>C, XM_047429847.1:c.626T>C, XM_047429846.1:c.626T>C, XM_047429849.1:c.626T>C, XM_047429848.1:c.626T>C, XM_047429850.1:c.626T>C, NM_183414.1:c.626T>C, XM_047429853.1:c.626T>C, XM_047429854.1:c.626T>C, NP_569733.2:p.Leu209Pro, NP_904324.1:p.Leu209Pro, NP_001257378.1:p.Leu209Pro, NP_001257380.1:p.Leu209Pro, NP_001257379.1:p.Leu209Pro, XP_006719744.1:p.Leu209Pro, XP_006719745.1:p.Leu209Pro, XP_005254044.1:p.Leu209Pro, XP_011537261.1:p.Leu209Pro, XP_011537263.1:p.Leu209Pro, XP_016875685.1:p.Leu209Pro, XP_047285808.1:p.Leu209Pro, XP_047285807.1:p.Leu209Pro, XP_047285800.1:p.Leu209Pro, XP_047285801.1:p.Leu209Pro, XP_047285803.1:p.Leu209Pro, XP_047285802.1:p.Leu209Pro, XP_047285805.1:p.Leu209Pro, XP_047285804.1:p.Leu209Pro, XP_047285806.1:p.Leu209Pro, XP_047285809.1:p.Leu209Pro, XP_047285810.1:p.Leu209Pro

            6.

            rs1478131322 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              12:109501404 (GRCh38)
              12:109939209 (GRCh37)
              Canonical SPDI:
              NC_000012.12:109501403:G:C
              Gene:
              UBE3B (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 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000012.12:g.109501404G>C, NC_000012.11:g.109939209G>C, NG_033898.1:g.28782G>C, NM_130466.4:c.1152G>C, NM_130466.3:c.1152G>C, NM_183415.3:c.1152G>C, NM_183415.2:c.1152G>C, XM_006719681.4:c.1152G>C, XM_006719681.3:c.1152G>C, XM_006719681.2:c.1152G>C, XM_006719681.1:c.1152G>C, XM_006719682.3:c.1152G>C, XM_006719682.2:c.1152G>C, XM_006719682.1:c.1152G>C, XM_005253987.3:c.1152G>C, XM_005253987.2:c.1152G>C, XM_005253987.1:c.1152G>C, XM_011538959.3:c.1152G>C, XM_011538959.2:c.1152G>C, XM_011538959.1:c.1152G>C, XM_011538961.2:c.1152G>C, XM_011538961.1:c.1152G>C, XM_047429852.1:c.1152G>C, XM_047429851.1:c.1152G>C, XM_047429844.1:c.1152G>C, XM_047429845.1:c.1152G>C, XM_047429847.1:c.1152G>C, XM_047429846.1:c.1152G>C, XM_047429849.1:c.1152G>C, XM_047429848.1:c.1152G>C, XM_047429850.1:c.1152G>C, NM_183414.1:c.1152G>C, XM_047429853.1:c.1152G>C, XM_047429854.1:c.1152G>C, NP_569733.2:p.Gln384His, NP_904324.1:p.Gln384His, XP_006719744.1:p.Gln384His, XP_006719745.1:p.Gln384His, XP_005254044.1:p.Gln384His, XP_011537261.1:p.Gln384His, XP_011537263.1:p.Gln384His, XP_047285808.1:p.Gln384His, XP_047285807.1:p.Gln384His, XP_047285800.1:p.Gln384His, XP_047285801.1:p.Gln384His, XP_047285803.1:p.Gln384His, XP_047285802.1:p.Gln384His, XP_047285805.1:p.Gln384His, XP_047285804.1:p.Gln384His, XP_047285806.1:p.Gln384His, XP_047285809.1:p.Gln384His, XP_047285810.1:p.Gln384His

              7.

              rs1477875145 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                12:109497867 (GRCh38)
                12:109935672 (GRCh37)
                Canonical SPDI:
                NC_000012.12:109497866:A:C,NC_000012.12:109497866:A:G
                Gene:
                UBE3B (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000012.12:g.109497867A>C, NC_000012.12:g.109497867A>G, NC_000012.11:g.109935672A>C, NC_000012.11:g.109935672A>G, NG_033898.1:g.25245A>C, NG_033898.1:g.25245A>G, NM_130466.4:c.763A>C, NM_130466.4:c.763A>G, NM_130466.3:c.763A>C, NM_130466.3:c.763A>G, NM_183415.3:c.763A>C, NM_183415.3:c.763A>G, NM_183415.2:c.763A>C, NM_183415.2:c.763A>G, XM_006719681.4:c.763A>C, XM_006719681.4:c.763A>G, XM_006719681.3:c.763A>C, XM_006719681.3:c.763A>G, XM_006719681.2:c.763A>C, XM_006719681.2:c.763A>G, XM_006719681.1:c.763A>C, XM_006719681.1:c.763A>G, XM_006719682.3:c.763A>C, XM_006719682.3:c.763A>G, XM_006719682.2:c.763A>C, XM_006719682.2:c.763A>G, XM_006719682.1:c.763A>C, XM_006719682.1:c.763A>G, XM_005253987.3:c.763A>C, XM_005253987.3:c.763A>G, XM_005253987.2:c.763A>C, XM_005253987.2:c.763A>G, XM_005253987.1:c.763A>C, XM_005253987.1:c.763A>G, XM_011538959.3:c.763A>C, XM_011538959.3:c.763A>G, XM_011538959.2:c.763A>C, XM_011538959.2:c.763A>G, XM_011538959.1:c.763A>C, XM_011538959.1:c.763A>G, XM_011538961.2:c.763A>C, XM_011538961.2:c.763A>G, XM_011538961.1:c.763A>C, XM_011538961.1:c.763A>G, XM_047429852.1:c.763A>C, XM_047429852.1:c.763A>G, XM_047429851.1:c.763A>C, XM_047429851.1:c.763A>G, XM_047429844.1:c.763A>C, XM_047429844.1:c.763A>G, XM_047429845.1:c.763A>C, XM_047429845.1:c.763A>G, XM_047429847.1:c.763A>C, XM_047429847.1:c.763A>G, XM_047429846.1:c.763A>C, XM_047429846.1:c.763A>G, XM_047429849.1:c.763A>C, XM_047429849.1:c.763A>G, XM_047429848.1:c.763A>C, XM_047429848.1:c.763A>G, XM_047429850.1:c.763A>C, XM_047429850.1:c.763A>G, NM_183414.1:c.763A>C, NM_183414.1:c.763A>G, XM_047429853.1:c.763A>C, XM_047429853.1:c.763A>G, XM_047429854.1:c.763A>C, XM_047429854.1:c.763A>G, NP_569733.2:p.Ile255Leu, NP_569733.2:p.Ile255Val, NP_904324.1:p.Ile255Leu, NP_904324.1:p.Ile255Val, XP_006719744.1:p.Ile255Leu, XP_006719744.1:p.Ile255Val, XP_006719745.1:p.Ile255Leu, XP_006719745.1:p.Ile255Val, XP_005254044.1:p.Ile255Leu, XP_005254044.1:p.Ile255Val, XP_011537261.1:p.Ile255Leu, XP_011537261.1:p.Ile255Val, XP_011537263.1:p.Ile255Leu, XP_011537263.1:p.Ile255Val, XP_047285808.1:p.Ile255Leu, XP_047285808.1:p.Ile255Val, XP_047285807.1:p.Ile255Leu, XP_047285807.1:p.Ile255Val, XP_047285800.1:p.Ile255Leu, XP_047285800.1:p.Ile255Val, XP_047285801.1:p.Ile255Leu, XP_047285801.1:p.Ile255Val, XP_047285803.1:p.Ile255Leu, XP_047285803.1:p.Ile255Val, XP_047285802.1:p.Ile255Leu, XP_047285802.1:p.Ile255Val, XP_047285805.1:p.Ile255Leu, XP_047285805.1:p.Ile255Val, XP_047285804.1:p.Ile255Leu, XP_047285804.1:p.Ile255Val, XP_047285806.1:p.Ile255Leu, XP_047285806.1:p.Ile255Val, XP_047285809.1:p.Ile255Leu, XP_047285809.1:p.Ile255Val, XP_047285810.1:p.Ile255Leu, XP_047285810.1:p.Ile255Val

                8.

                rs1477148918 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  12:109503154 (GRCh38)
                  12:109940959 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:109503153:A:T
                  Gene:
                  UBE3B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.109503154A>T, NC_000012.11:g.109940959A>T, NG_033898.1:g.30532A>T, NM_130466.4:c.1414A>T, NM_130466.3:c.1414A>T, NM_183415.3:c.1414A>T, NM_183415.2:c.1414A>T, XM_006719681.4:c.1414A>T, XM_006719681.3:c.1414A>T, XM_006719681.2:c.1414A>T, XM_006719681.1:c.1414A>T, XM_006719682.3:c.1414A>T, XM_006719682.2:c.1414A>T, XM_006719682.1:c.1414A>T, XM_005253987.3:c.1414A>T, XM_005253987.2:c.1414A>T, XM_005253987.1:c.1414A>T, XM_011538959.3:c.1414A>T, XM_011538959.2:c.1414A>T, XM_011538959.1:c.1414A>T, XM_011538961.2:c.1414A>T, XM_011538961.1:c.1414A>T, XM_047429852.1:c.1414A>T, XM_047429851.1:c.1414A>T, XM_047429844.1:c.1414A>T, XM_047429845.1:c.1414A>T, XM_047429847.1:c.1414A>T, XM_047429846.1:c.1414A>T, XM_047429849.1:c.1414A>T, XM_047429848.1:c.1414A>T, XM_047429850.1:c.1414A>T, NM_183414.1:c.1414A>T, XM_047429853.1:c.1414A>T, XM_047429854.1:c.1414A>T, NP_569733.2:p.Thr472Ser, NP_904324.1:p.Thr472Ser, XP_006719744.1:p.Thr472Ser, XP_006719745.1:p.Thr472Ser, XP_005254044.1:p.Thr472Ser, XP_011537261.1:p.Thr472Ser, XP_011537263.1:p.Thr472Ser, XP_047285808.1:p.Thr472Ser, XP_047285807.1:p.Thr472Ser, XP_047285800.1:p.Thr472Ser, XP_047285801.1:p.Thr472Ser, XP_047285803.1:p.Thr472Ser, XP_047285802.1:p.Thr472Ser, XP_047285805.1:p.Thr472Ser, XP_047285804.1:p.Thr472Ser, XP_047285806.1:p.Thr472Ser, XP_047285809.1:p.Thr472Ser, XP_047285810.1:p.Thr472Ser

                  9.

                  rs1476397983 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:109521176 (GRCh38)
                    12:109958981 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:109521175:C:T
                    Gene:
                    UBE3B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.109521176C>T, NC_000012.11:g.109958981C>T, NG_033898.1:g.48554C>T, NM_130466.4:c.2105C>T, NM_130466.3:c.2105C>T, NM_183415.3:c.2105C>T, NM_183415.2:c.2105C>T, XM_006719681.4:c.2105C>T, XM_006719681.3:c.2105C>T, XM_006719681.2:c.2105C>T, XM_006719681.1:c.2105C>T, XM_006719682.3:c.2105C>T, XM_006719682.2:c.2105C>T, XM_006719682.1:c.2105C>T, XM_005253987.3:c.2105C>T, XM_005253987.2:c.2105C>T, XM_005253987.1:c.2105C>T, XM_011538959.3:c.2105C>T, XM_011538959.2:c.2105C>T, XM_011538959.1:c.2105C>T, XM_011538961.2:c.2105C>T, XM_011538961.1:c.2105C>T, XM_047429852.1:c.2105C>T, XM_047429851.1:c.2105C>T, XM_047429844.1:c.2105C>T, XM_047429845.1:c.2105C>T, XM_047429847.1:c.2105C>T, XM_047429846.1:c.2105C>T, XM_047429849.1:c.2105C>T, XM_047429848.1:c.2105C>T, XM_047429850.1:c.2105C>T, NM_183414.1:c.*75C>T, XM_047429853.1:c.2105C>T, NP_569733.2:p.Ser702Phe, NP_904324.1:p.Ser702Phe, XP_006719744.1:p.Ser702Phe, XP_006719745.1:p.Ser702Phe, XP_005254044.1:p.Ser702Phe, XP_011537261.1:p.Ser702Phe, XP_011537263.1:p.Ser702Phe, XP_047285808.1:p.Ser702Phe, XP_047285807.1:p.Ser702Phe, XP_047285800.1:p.Ser702Phe, XP_047285801.1:p.Ser702Phe, XP_047285803.1:p.Ser702Phe, XP_047285802.1:p.Ser702Phe, XP_047285805.1:p.Ser702Phe, XP_047285804.1:p.Ser702Phe, XP_047285806.1:p.Ser702Phe, XP_047285809.1:p.Ser702Phe

                    10.

                    rs1475521028 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      12:109483972 (GRCh38)
                      12:109921777 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:109483971:G:A,NC_000012.12:109483971:G:C
                      Gene:
                      UBE3B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000012.12:g.109483972G>A, NC_000012.12:g.109483972G>C, NC_000012.11:g.109921777G>A, NC_000012.11:g.109921777G>C, NG_033898.1:g.11350G>A, NG_033898.1:g.11350G>C, NM_130466.4:c.273G>A, NM_130466.4:c.273G>C, NM_130466.3:c.273G>A, NM_130466.3:c.273G>C, NM_183415.3:c.273G>A, NM_183415.3:c.273G>C, NM_183415.2:c.273G>A, NM_183415.2:c.273G>C, NM_001270449.2:c.273G>A, NM_001270449.2:c.273G>C, NM_001270449.1:c.273G>A, NM_001270449.1:c.273G>C, NM_001270451.2:c.273G>A, NM_001270451.2:c.273G>C, NM_001270451.1:c.273G>A, NM_001270451.1:c.273G>C, NM_001270450.2:c.273G>A, NM_001270450.2:c.273G>C, NM_001270450.1:c.273G>A, NM_001270450.1:c.273G>C, XM_006719681.4:c.273G>A, XM_006719681.4:c.273G>C, XM_006719681.3:c.273G>A, XM_006719681.3:c.273G>C, XM_006719681.2:c.273G>A, XM_006719681.2:c.273G>C, XM_006719681.1:c.273G>A, XM_006719681.1:c.273G>C, XM_006719682.3:c.273G>A, XM_006719682.3:c.273G>C, XM_006719682.2:c.273G>A, XM_006719682.2:c.273G>C, XM_006719682.1:c.273G>A, XM_006719682.1:c.273G>C, XM_005253987.3:c.273G>A, XM_005253987.3:c.273G>C, XM_005253987.2:c.273G>A, XM_005253987.2:c.273G>C, XM_005253987.1:c.273G>A, XM_005253987.1:c.273G>C, XM_011538959.3:c.273G>A, XM_011538959.3:c.273G>C, XM_011538959.2:c.273G>A, XM_011538959.2:c.273G>C, XM_011538959.1:c.273G>A, XM_011538959.1:c.273G>C, XM_011538961.2:c.273G>A, XM_011538961.2:c.273G>C, XM_011538961.1:c.273G>A, XM_011538961.1:c.273G>C, XM_017020196.2:c.273G>A, XM_017020196.2:c.273G>C, XM_017020196.1:c.273G>A, XM_017020196.1:c.273G>C, XM_047429852.1:c.273G>A, XM_047429852.1:c.273G>C, XM_047429851.1:c.273G>A, XM_047429851.1:c.273G>C, XM_047429844.1:c.273G>A, XM_047429844.1:c.273G>C, XM_047429845.1:c.273G>A, XM_047429845.1:c.273G>C, XM_047429847.1:c.273G>A, XM_047429847.1:c.273G>C, XM_047429846.1:c.273G>A, XM_047429846.1:c.273G>C, XM_047429849.1:c.273G>A, XM_047429849.1:c.273G>C, XM_047429848.1:c.273G>A, XM_047429848.1:c.273G>C, XM_047429850.1:c.273G>A, XM_047429850.1:c.273G>C, NM_183414.1:c.273G>A, NM_183414.1:c.273G>C, XM_047429853.1:c.273G>A, XM_047429853.1:c.273G>C, XM_047429854.1:c.273G>A, XM_047429854.1:c.273G>C, NP_569733.2:p.Glu91Asp, NP_904324.1:p.Glu91Asp, NP_001257378.1:p.Glu91Asp, NP_001257380.1:p.Glu91Asp, NP_001257379.1:p.Glu91Asp, XP_006719744.1:p.Glu91Asp, XP_006719745.1:p.Glu91Asp, XP_005254044.1:p.Glu91Asp, XP_011537261.1:p.Glu91Asp, XP_011537263.1:p.Glu91Asp, XP_016875685.1:p.Glu91Asp, XP_047285808.1:p.Glu91Asp, XP_047285807.1:p.Glu91Asp, XP_047285800.1:p.Glu91Asp, XP_047285801.1:p.Glu91Asp, XP_047285803.1:p.Glu91Asp, XP_047285802.1:p.Glu91Asp, XP_047285805.1:p.Glu91Asp, XP_047285804.1:p.Glu91Asp, XP_047285806.1:p.Glu91Asp, XP_047285809.1:p.Glu91Asp, XP_047285810.1:p.Glu91Asp

                      11.

                      rs1474192771 has merged into rs398123021 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AG>- [Show Flanks]
                        Chromosome:
                        12:109521294 (GRCh38)
                        12:109959099 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:109521289:AGAGAG:AGAG
                        Gene:
                        UBE3B (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                        Clinical significance:
                        pathogenic
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000008/1 (ExAC)
                        HGVS:
                        NC_000012.12:g.109521290AG[2], NC_000012.11:g.109959095AG[2], NG_033898.1:g.48668AG[2], NM_130466.4:c.2223_2224del, NM_130466.3:c.2223_2224del, NM_183415.3:c.2223_2224del, NM_183415.2:c.2223_2224del, XM_006719681.4:c.2223_2224del, XM_006719681.3:c.2223_2224del, XM_006719681.2:c.2223_2224del, XM_006719681.1:c.2223_2224del, XM_006719682.3:c.2223_2224del, XM_006719682.2:c.2223_2224del, XM_006719682.1:c.2223_2224del, XM_005253987.3:c.2223_2224del, XM_005253987.2:c.2223_2224del, XM_005253987.1:c.2223_2224del, XM_011538959.3:c.2223_2224del, XM_011538959.2:c.2223_2224del, XM_011538959.1:c.2223_2224del, XM_011538961.2:c.2223_2224del, XM_011538961.1:c.2223_2224del, XM_047429852.1:c.2223_2224del, XM_047429851.1:c.2223_2224del, XM_047429844.1:c.2223_2224del, XM_047429845.1:c.2223_2224del, XM_047429847.1:c.2223_2224del, XM_047429846.1:c.2223_2224del, XM_047429849.1:c.2223_2224del, XM_047429848.1:c.2223_2224del, XM_047429850.1:c.2223_2224del, NM_183414.1:c.*189AG[2], XM_047429853.1:c.2223_2224del, NP_569733.2:p.Arg741fs, NP_904324.1:p.Arg741fs, XP_006719744.1:p.Arg741fs, XP_006719745.1:p.Arg741fs, XP_005254044.1:p.Arg741fs, XP_011537261.1:p.Arg741fs, XP_011537263.1:p.Arg741fs, XP_047285808.1:p.Arg741fs, XP_047285807.1:p.Arg741fs, XP_047285800.1:p.Arg741fs, XP_047285801.1:p.Arg741fs, XP_047285803.1:p.Arg741fs, XP_047285802.1:p.Arg741fs, XP_047285805.1:p.Arg741fs, XP_047285804.1:p.Arg741fs, XP_047285806.1:p.Arg741fs, XP_047285809.1:p.Arg741fs

                        12.

                        rs1474109107 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:109521551 (GRCh38)
                          12:109959356 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:109521550:G:A
                          Gene:
                          UBE3B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                          HGVS:
                          NC_000012.12:g.109521551G>A, NC_000012.11:g.109959356G>A, NG_033898.1:g.48929G>A, NM_130466.4:c.2364G>A, NM_130466.3:c.2364G>A, NM_183415.3:c.2364G>A, NM_183415.2:c.2364G>A, XM_006719681.4:c.2364G>A, XM_006719681.3:c.2364G>A, XM_006719681.2:c.2364G>A, XM_006719681.1:c.2364G>A, XM_006719682.3:c.2364G>A, XM_006719682.2:c.2364G>A, XM_006719682.1:c.2364G>A, XM_005253987.3:c.2364G>A, XM_005253987.2:c.2364G>A, XM_005253987.1:c.2364G>A, XM_011538959.3:c.2364G>A, XM_011538959.2:c.2364G>A, XM_011538959.1:c.2364G>A, XM_011538961.2:c.2364G>A, XM_011538961.1:c.2364G>A, XM_047429852.1:c.2364G>A, XM_047429851.1:c.2364G>A, XM_047429844.1:c.2364G>A, XM_047429845.1:c.2364G>A, XM_047429847.1:c.2364G>A, XM_047429846.1:c.2364G>A, XM_047429849.1:c.2364G>A, XM_047429848.1:c.2364G>A, XM_047429850.1:c.2364G>A, NM_183414.1:c.*334G>A, XM_047429853.1:c.2364G>A

                          13.

                          rs1473785346 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            12:109498295 (GRCh38)
                            12:109936100 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:109498294:A:G
                            Gene:
                            UBE3B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.109498295A>G, NC_000012.11:g.109936100A>G, NG_033898.1:g.25673A>G, NM_130466.4:c.882A>G, NM_130466.3:c.882A>G, NM_183415.3:c.882A>G, NM_183415.2:c.882A>G, XM_006719681.4:c.882A>G, XM_006719681.3:c.882A>G, XM_006719681.2:c.882A>G, XM_006719681.1:c.882A>G, XM_006719682.3:c.882A>G, XM_006719682.2:c.882A>G, XM_006719682.1:c.882A>G, XM_005253987.3:c.882A>G, XM_005253987.2:c.882A>G, XM_005253987.1:c.882A>G, XM_011538959.3:c.882A>G, XM_011538959.2:c.882A>G, XM_011538959.1:c.882A>G, XM_011538961.2:c.882A>G, XM_011538961.1:c.882A>G, XM_047429852.1:c.882A>G, XM_047429851.1:c.882A>G, XM_047429844.1:c.882A>G, XM_047429845.1:c.882A>G, XM_047429847.1:c.882A>G, XM_047429846.1:c.882A>G, XM_047429849.1:c.882A>G, XM_047429848.1:c.882A>G, XM_047429850.1:c.882A>G, NM_183414.1:c.882A>G, XM_047429853.1:c.882A>G, XM_047429854.1:c.882A>G

                            14.

                            rs1472359755 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              12:109543590 (GRCh38)
                              12:109981395 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:109543589:A:G
                              Gene:
                              UBE3B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1472101706 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:109497873 (GRCh38)
                                12:109935678 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:109497872:A:G
                                Gene:
                                UBE3B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000012.12:g.109497873A>G, NC_000012.11:g.109935678A>G, NG_033898.1:g.25251A>G, NM_130466.4:c.769A>G, NM_130466.3:c.769A>G, NM_183415.3:c.769A>G, NM_183415.2:c.769A>G, XM_006719681.4:c.769A>G, XM_006719681.3:c.769A>G, XM_006719681.2:c.769A>G, XM_006719681.1:c.769A>G, XM_006719682.3:c.769A>G, XM_006719682.2:c.769A>G, XM_006719682.1:c.769A>G, XM_005253987.3:c.769A>G, XM_005253987.2:c.769A>G, XM_005253987.1:c.769A>G, XM_011538959.3:c.769A>G, XM_011538959.2:c.769A>G, XM_011538959.1:c.769A>G, XM_011538961.2:c.769A>G, XM_011538961.1:c.769A>G, XM_047429852.1:c.769A>G, XM_047429851.1:c.769A>G, XM_047429844.1:c.769A>G, XM_047429845.1:c.769A>G, XM_047429847.1:c.769A>G, XM_047429846.1:c.769A>G, XM_047429849.1:c.769A>G, XM_047429848.1:c.769A>G, XM_047429850.1:c.769A>G, NM_183414.1:c.769A>G, XM_047429853.1:c.769A>G, XM_047429854.1:c.769A>G, NP_569733.2:p.Ile257Val, NP_904324.1:p.Ile257Val, XP_006719744.1:p.Ile257Val, XP_006719745.1:p.Ile257Val, XP_005254044.1:p.Ile257Val, XP_011537261.1:p.Ile257Val, XP_011537263.1:p.Ile257Val, XP_047285808.1:p.Ile257Val, XP_047285807.1:p.Ile257Val, XP_047285800.1:p.Ile257Val, XP_047285801.1:p.Ile257Val, XP_047285803.1:p.Ile257Val, XP_047285802.1:p.Ile257Val, XP_047285805.1:p.Ile257Val, XP_047285804.1:p.Ile257Val, XP_047285806.1:p.Ile257Val, XP_047285809.1:p.Ile257Val, XP_047285810.1:p.Ile257Val

                                16.

                                rs1469309911 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:109483711 (GRCh38)
                                  12:109921516 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:109483710:A:G
                                  Gene:
                                  UBE3B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.109483711A>G, NC_000012.11:g.109921516A>G, NG_033898.1:g.11089A>G, NM_130466.4:c.160A>G, NM_130466.3:c.160A>G, NM_183415.3:c.160A>G, NM_183415.2:c.160A>G, NM_001270449.2:c.160A>G, NM_001270449.1:c.160A>G, NM_001270451.2:c.160A>G, NM_001270451.1:c.160A>G, NM_001270450.2:c.160A>G, NM_001270450.1:c.160A>G, XM_006719681.4:c.160A>G, XM_006719681.3:c.160A>G, XM_006719681.2:c.160A>G, XM_006719681.1:c.160A>G, XM_006719682.3:c.160A>G, XM_006719682.2:c.160A>G, XM_006719682.1:c.160A>G, XM_005253987.3:c.160A>G, XM_005253987.2:c.160A>G, XM_005253987.1:c.160A>G, XM_011538959.3:c.160A>G, XM_011538959.2:c.160A>G, XM_011538959.1:c.160A>G, XM_011538961.2:c.160A>G, XM_011538961.1:c.160A>G, XM_017020196.2:c.160A>G, XM_017020196.1:c.160A>G, XM_047429852.1:c.160A>G, XM_047429851.1:c.160A>G, XM_047429844.1:c.160A>G, XM_047429845.1:c.160A>G, XM_047429847.1:c.160A>G, XM_047429846.1:c.160A>G, XM_047429849.1:c.160A>G, XM_047429848.1:c.160A>G, XM_047429850.1:c.160A>G, NM_183414.1:c.160A>G, XM_047429853.1:c.160A>G, XM_047429854.1:c.160A>G, NP_569733.2:p.Arg54Gly, NP_904324.1:p.Arg54Gly, NP_001257378.1:p.Arg54Gly, NP_001257380.1:p.Arg54Gly, NP_001257379.1:p.Arg54Gly, XP_006719744.1:p.Arg54Gly, XP_006719745.1:p.Arg54Gly, XP_005254044.1:p.Arg54Gly, XP_011537261.1:p.Arg54Gly, XP_011537263.1:p.Arg54Gly, XP_016875685.1:p.Arg54Gly, XP_047285808.1:p.Arg54Gly, XP_047285807.1:p.Arg54Gly, XP_047285800.1:p.Arg54Gly, XP_047285801.1:p.Arg54Gly, XP_047285803.1:p.Arg54Gly, XP_047285802.1:p.Arg54Gly, XP_047285805.1:p.Arg54Gly, XP_047285804.1:p.Arg54Gly, XP_047285806.1:p.Arg54Gly, XP_047285809.1:p.Arg54Gly, XP_047285810.1:p.Arg54Gly

                                  17.

                                  rs1469215401 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    12:109507592 (GRCh38)
                                    12:109945397 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:109507591:C:A
                                    Gene:
                                    UBE3B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.109507592C>A, NC_000012.11:g.109945397C>A, NG_033898.1:g.34970C>A, NM_130466.4:c.1479C>A, NM_130466.3:c.1479C>A, NM_183415.3:c.1479C>A, NM_183415.2:c.1479C>A, XM_006719681.4:c.1479C>A, XM_006719681.3:c.1479C>A, XM_006719681.2:c.1479C>A, XM_006719681.1:c.1479C>A, XM_006719682.3:c.1479C>A, XM_006719682.2:c.1479C>A, XM_006719682.1:c.1479C>A, XM_005253987.3:c.1479C>A, XM_005253987.2:c.1479C>A, XM_005253987.1:c.1479C>A, XM_011538959.3:c.1479C>A, XM_011538959.2:c.1479C>A, XM_011538959.1:c.1479C>A, XM_011538961.2:c.1479C>A, XM_011538961.1:c.1479C>A, XM_047429852.1:c.1479C>A, XM_047429851.1:c.1479C>A, XM_047429844.1:c.1479C>A, XM_047429845.1:c.1479C>A, XM_047429847.1:c.1479C>A, XM_047429846.1:c.1479C>A, XM_047429849.1:c.1479C>A, XM_047429848.1:c.1479C>A, XM_047429850.1:c.1479C>A, NM_183414.1:c.1479C>A, XM_047429853.1:c.1479C>A, XM_047429854.1:c.1479C>A

                                    18.

                                    rs1468568751 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      GCCTTCTCTGGACT>- [Show Flanks]
                                      Chromosome:
                                      12:109524070 (GRCh38)
                                      12:109961875 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:109524066:ACTGCCTTCTCTGGACT:ACT
                                      Gene:
                                      UBE3B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      ACT=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.109524070_109524083del, NC_000012.11:g.109961875_109961888del, NG_033898.1:g.51448_51461del, NM_130466.4:c.2457_2470del, NM_130466.3:c.2457_2470del, NM_183415.3:c.2457_2470del, NM_183415.2:c.2457_2470del, XM_006719681.4:c.2457_2470del, XM_006719681.3:c.2457_2470del, XM_006719681.2:c.2457_2470del, XM_006719681.1:c.2457_2470del, XM_006719682.3:c.2457_2470del, XM_006719682.2:c.2457_2470del, XM_006719682.1:c.2457_2470del, XM_005253987.3:c.2457_2470del, XM_005253987.2:c.2457_2470del, XM_005253987.1:c.2457_2470del, XM_011538959.3:c.2457_2470del, XM_011538959.2:c.2457_2470del, XM_011538959.1:c.2457_2470del, XM_011538961.2:c.2457_2470del, XM_011538961.1:c.2457_2470del, XM_047429852.1:c.2457_2470del, XM_047429851.1:c.2457_2470del, XM_047429844.1:c.2457_2470del, XM_047429845.1:c.2457_2470del, XM_047429847.1:c.2457_2470del, XM_047429846.1:c.2457_2470del, XM_047429849.1:c.2457_2470del, XM_047429848.1:c.2457_2470del, XM_047429850.1:c.2457_2470del, NM_183414.1:c.*427_*440del, XM_047429853.1:c.2457_2470del, NP_569733.2:p.Pro820fs, NP_904324.1:p.Pro820fs, XP_006719744.1:p.Pro820fs, XP_006719745.1:p.Pro820fs, XP_005254044.1:p.Pro820fs, XP_011537261.1:p.Pro820fs, XP_011537263.1:p.Pro820fs, XP_047285808.1:p.Pro820fs, XP_047285807.1:p.Pro820fs, XP_047285800.1:p.Pro820fs, XP_047285801.1:p.Pro820fs, XP_047285803.1:p.Pro820fs, XP_047285802.1:p.Pro820fs, XP_047285805.1:p.Pro820fs, XP_047285804.1:p.Pro820fs, XP_047285806.1:p.Pro820fs, XP_047285809.1:p.Pro820fs

                                      19.

                                      rs1467791179 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        12:109521462 (GRCh38)
                                        12:109959267 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:109521461:C:G,NC_000012.12:109521461:C:T
                                        Gene:
                                        UBE3B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000012/3 (GnomAD_exomes)
                                        T=0.000014/2 (GnomAD)
                                        T=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.109521462C>G, NC_000012.12:g.109521462C>T, NC_000012.11:g.109959267C>G, NC_000012.11:g.109959267C>T, NG_033898.1:g.48840C>G, NG_033898.1:g.48840C>T, NM_130466.4:c.2275C>G, NM_130466.4:c.2275C>T, NM_130466.3:c.2275C>G, NM_130466.3:c.2275C>T, NM_183415.3:c.2275C>G, NM_183415.3:c.2275C>T, NM_183415.2:c.2275C>G, NM_183415.2:c.2275C>T, XM_006719681.4:c.2275C>G, XM_006719681.4:c.2275C>T, XM_006719681.3:c.2275C>G, XM_006719681.3:c.2275C>T, XM_006719681.2:c.2275C>G, XM_006719681.2:c.2275C>T, XM_006719681.1:c.2275C>G, XM_006719681.1:c.2275C>T, XM_006719682.3:c.2275C>G, XM_006719682.3:c.2275C>T, XM_006719682.2:c.2275C>G, XM_006719682.2:c.2275C>T, XM_006719682.1:c.2275C>G, XM_006719682.1:c.2275C>T, XM_005253987.3:c.2275C>G, XM_005253987.3:c.2275C>T, XM_005253987.2:c.2275C>G, XM_005253987.2:c.2275C>T, XM_005253987.1:c.2275C>G, XM_005253987.1:c.2275C>T, XM_011538959.3:c.2275C>G, XM_011538959.3:c.2275C>T, XM_011538959.2:c.2275C>G, XM_011538959.2:c.2275C>T, XM_011538959.1:c.2275C>G, XM_011538959.1:c.2275C>T, XM_011538961.2:c.2275C>G, XM_011538961.2:c.2275C>T, XM_011538961.1:c.2275C>G, XM_011538961.1:c.2275C>T, XM_047429852.1:c.2275C>G, XM_047429852.1:c.2275C>T, XM_047429851.1:c.2275C>G, XM_047429851.1:c.2275C>T, XM_047429844.1:c.2275C>G, XM_047429844.1:c.2275C>T, XM_047429845.1:c.2275C>G, XM_047429845.1:c.2275C>T, XM_047429847.1:c.2275C>G, XM_047429847.1:c.2275C>T, XM_047429846.1:c.2275C>G, XM_047429846.1:c.2275C>T, XM_047429849.1:c.2275C>G, XM_047429849.1:c.2275C>T, XM_047429848.1:c.2275C>G, XM_047429848.1:c.2275C>T, XM_047429850.1:c.2275C>G, XM_047429850.1:c.2275C>T, NM_183414.1:c.*245C>G, NM_183414.1:c.*245C>T, XM_047429853.1:c.2275C>G, XM_047429853.1:c.2275C>T, NP_569733.2:p.Leu759Val, NP_904324.1:p.Leu759Val, XP_006719744.1:p.Leu759Val, XP_006719745.1:p.Leu759Val, XP_005254044.1:p.Leu759Val, XP_011537261.1:p.Leu759Val, XP_011537263.1:p.Leu759Val, XP_047285808.1:p.Leu759Val, XP_047285807.1:p.Leu759Val, XP_047285800.1:p.Leu759Val, XP_047285801.1:p.Leu759Val, XP_047285803.1:p.Leu759Val, XP_047285802.1:p.Leu759Val, XP_047285805.1:p.Leu759Val, XP_047285804.1:p.Leu759Val, XP_047285806.1:p.Leu759Val, XP_047285809.1:p.Leu759Val

                                        20.

                                        rs1466379783 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:109524108 (GRCh38)
                                          12:109961913 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:109524107:C:T
                                          Gene:
                                          UBE3B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.109524108C>T, NC_000012.11:g.109961913C>T, NG_033898.1:g.51486C>T, NM_130466.4:c.2495C>T, NM_130466.3:c.2495C>T, NM_183415.3:c.2495C>T, NM_183415.2:c.2495C>T, XM_006719681.4:c.2495C>T, XM_006719681.3:c.2495C>T, XM_006719681.2:c.2495C>T, XM_006719681.1:c.2495C>T, XM_006719682.3:c.2495C>T, XM_006719682.2:c.2495C>T, XM_006719682.1:c.2495C>T, XM_005253987.3:c.2495C>T, XM_005253987.2:c.2495C>T, XM_005253987.1:c.2495C>T, XM_011538959.3:c.2495C>T, XM_011538959.2:c.2495C>T, XM_011538959.1:c.2495C>T, XM_011538961.2:c.2495C>T, XM_011538961.1:c.2495C>T, XM_047429852.1:c.2495C>T, XM_047429851.1:c.2495C>T, XM_047429844.1:c.2495C>T, XM_047429845.1:c.2495C>T, XM_047429847.1:c.2495C>T, XM_047429846.1:c.2495C>T, XM_047429849.1:c.2495C>T, XM_047429848.1:c.2495C>T, XM_047429850.1:c.2495C>T, NM_183414.1:c.*465C>T, XM_047429853.1:c.2495C>T, NP_569733.2:p.Ser832Phe, NP_904324.1:p.Ser832Phe, XP_006719744.1:p.Ser832Phe, XP_006719745.1:p.Ser832Phe, XP_005254044.1:p.Ser832Phe, XP_011537261.1:p.Ser832Phe, XP_011537263.1:p.Ser832Phe, XP_047285808.1:p.Ser832Phe, XP_047285807.1:p.Ser832Phe, XP_047285800.1:p.Ser832Phe, XP_047285801.1:p.Ser832Phe, XP_047285803.1:p.Ser832Phe, XP_047285802.1:p.Ser832Phe, XP_047285805.1:p.Ser832Phe, XP_047285804.1:p.Ser832Phe, XP_047285806.1:p.Ser832Phe, XP_047285809.1:p.Ser832Phe

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