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Items: 1 to 20 of 685

1.

rs1490965192 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    16:57153910 (GRCh38)
    16:57187822 (GRCh37)
    Canonical SPDI:
    NC_000016.10:57153909:G:T
    Gene:
    PSME3IP1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000016.10:g.57153910G>T, NC_000016.9:g.57187822G>T, NM_024946.4:c.*380C>A, NM_024946.3:c.*380C>A, NM_024946.2:c.*380C>A, XM_017023681.3:c.*380C>A, XM_017023681.2:c.*380C>A, XM_017023681.1:c.*380C>A, NM_001354103.2:c.*380C>A, NM_001354103.1:c.*380C>A, NM_001354102.2:c.*380C>A, NM_001354102.1:c.*380C>A, NM_001354101.2:c.*380C>A, NM_001354101.1:c.*380C>A, NM_001354099.2:c.*380C>A, NM_001354099.1:c.*380C>A, NM_001354100.2:c.*380C>A, NM_001354100.1:c.*380C>A, NM_001354098.2:c.*380C>A, NM_001354098.1:c.*380C>A, NM_001354096.2:c.*380C>A, NM_001354096.1:c.*380C>A, NM_001354092.2:c.*380C>A, NM_001354092.1:c.*380C>A, NM_001354090.2:c.*380C>A, NM_001354090.1:c.*380C>A, NM_001354085.2:c.*380C>A, NM_001354085.1:c.*380C>A, NM_001354088.2:c.*380C>A, NM_001354088.1:c.*380C>A, NM_001354084.2:c.*380C>A, NM_001354084.1:c.*380C>A, NM_001354089.2:c.*380C>A, NM_001354089.1:c.*380C>A, NM_001354091.2:c.*380C>A, NM_001354091.1:c.*380C>A, NM_001354095.2:c.*380C>A, NM_001354095.1:c.*380C>A, NM_001354094.2:c.*380C>A, NM_001354094.1:c.*380C>A, NM_001354081.2:c.*380C>A, NM_001354081.1:c.*380C>A, NM_001354097.2:c.*380C>A, NM_001354097.1:c.*380C>A, NM_001354086.2:c.*380C>A, NM_001354086.1:c.*380C>A, XM_024450454.2:c.*380C>A, XM_024450454.1:c.*380C>A, NM_001354083.2:c.*380C>A, NM_001354083.1:c.*380C>A, XM_017023703.2:c.*380C>A, XM_017023703.1:c.*380C>A, XM_047434673.1:c.*380C>A, XM_047434670.1:c.*380C>A, XM_047434675.1:c.*380C>A, XM_047434671.1:c.*380C>A, XM_047434672.1:c.*380C>A, XM_047434677.1:c.*380C>A, XM_047434669.1:c.*380C>A, NM_001354087.1:c.*380C>A, NM_001354079.1:c.*380C>A, NM_001354080.1:c.*380C>A, XM_047434676.1:c.*380C>A, XM_047434678.1:c.*380C>A, NM_001354093.1:c.*380C>A, XM_047434679.1:c.*380C>A, XM_047434680.1:c.*380C>A, XM_047434681.1:c.*380C>A, XM_047434668.1:c.*380C>A, NM_001354082.1:c.*380C>A, NM_001354078.1:c.*380C>A, XM_017023704.1:c.*380C>A

    2.

    rs1490946273 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      16:57152736 (GRCh38)
      16:57186648 (GRCh37)
      Canonical SPDI:
      NC_000016.10:57152735:T:A
      Gene:
      PSME3IP1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000016.10:g.57152736T>A, NC_000016.9:g.57186648T>A, NM_024946.4:c.*1554A>T, NM_024946.3:c.*1554A>T, NM_024946.2:c.*1554A>T, XM_017023681.3:c.*1554A>T, XM_017023681.2:c.*1554A>T, XM_017023681.1:c.*1554A>T, NM_001354103.2:c.*1554A>T, NM_001354103.1:c.*1554A>T, NM_001354102.2:c.*1554A>T, NM_001354102.1:c.*1554A>T, NM_001354101.2:c.*1554A>T, NM_001354101.1:c.*1554A>T, NM_001354099.2:c.*1554A>T, NM_001354099.1:c.*1554A>T, NM_001354100.2:c.*1554A>T, NM_001354100.1:c.*1554A>T, NM_001354098.2:c.*1554A>T, NM_001354098.1:c.*1554A>T, NM_001354096.2:c.*1554A>T, NM_001354096.1:c.*1554A>T, NM_001354092.2:c.*1554A>T, NM_001354092.1:c.*1554A>T, NM_001354090.2:c.*1554A>T, NM_001354090.1:c.*1554A>T, NM_001354085.2:c.*1554A>T, NM_001354085.1:c.*1554A>T, NM_001354088.2:c.*1554A>T, NM_001354088.1:c.*1554A>T, NM_001354084.2:c.*1554A>T, NM_001354084.1:c.*1554A>T, NM_001354089.2:c.*1554A>T, NM_001354089.1:c.*1554A>T, NM_001354091.2:c.*1554A>T, NM_001354091.1:c.*1554A>T, NM_001354095.2:c.*1554A>T, NM_001354095.1:c.*1554A>T, NM_001354094.2:c.*1554A>T, NM_001354094.1:c.*1554A>T, NM_001354081.2:c.*1554A>T, NM_001354081.1:c.*1554A>T, NM_001354097.2:c.*1554A>T, NM_001354097.1:c.*1554A>T, NM_001354086.2:c.*1554A>T, NM_001354086.1:c.*1554A>T, XM_024450454.2:c.*1554A>T, XM_024450454.1:c.*1554A>T, NM_001354083.2:c.*1554A>T, NM_001354083.1:c.*1554A>T, XM_017023703.2:c.*1554A>T, XM_017023703.1:c.*1554A>T, XM_047434673.1:c.*1554A>T, XM_047434670.1:c.*1554A>T, XM_047434675.1:c.*1554A>T, XM_047434671.1:c.*1554A>T, XM_047434672.1:c.*1554A>T, XM_047434677.1:c.*1554A>T, XM_047434669.1:c.*1554A>T, NM_001354087.1:c.*1554A>T, NM_001354079.1:c.*1554A>T, NM_001354080.1:c.*1554A>T, XM_047434676.1:c.*1554A>T, XM_047434678.1:c.*1554A>T, NM_001354093.1:c.*1554A>T, XM_047434679.1:c.*1554A>T, XM_047434680.1:c.*1554A>T, XM_047434681.1:c.*1554A>T, XM_047434668.1:c.*1554A>T, NM_001354082.1:c.*1554A>T, NM_001354078.1:c.*1554A>T, XM_017023704.1:c.*1554A>T

      3.

      rs1490129489 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        16:57153163 (GRCh38)
        16:57187075 (GRCh37)
        Canonical SPDI:
        NC_000016.10:57153162:T:C
        Gene:
        PSME3IP1 (Varview)
        Functional Consequence:
        3_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_000016.10:g.57153163T>C, NC_000016.9:g.57187075T>C, NM_024946.4:c.*1127A>G, NM_024946.3:c.*1127A>G, NM_024946.2:c.*1127A>G, XM_017023681.3:c.*1127A>G, XM_017023681.2:c.*1127A>G, XM_017023681.1:c.*1127A>G, NM_001354103.2:c.*1127A>G, NM_001354103.1:c.*1127A>G, NM_001354102.2:c.*1127A>G, NM_001354102.1:c.*1127A>G, NM_001354101.2:c.*1127A>G, NM_001354101.1:c.*1127A>G, NM_001354099.2:c.*1127A>G, NM_001354099.1:c.*1127A>G, NM_001354100.2:c.*1127A>G, NM_001354100.1:c.*1127A>G, NM_001354098.2:c.*1127A>G, NM_001354098.1:c.*1127A>G, NM_001354096.2:c.*1127A>G, NM_001354096.1:c.*1127A>G, NM_001354092.2:c.*1127A>G, NM_001354092.1:c.*1127A>G, NM_001354090.2:c.*1127A>G, NM_001354090.1:c.*1127A>G, NM_001354085.2:c.*1127A>G, NM_001354085.1:c.*1127A>G, NM_001354088.2:c.*1127A>G, NM_001354088.1:c.*1127A>G, NM_001354084.2:c.*1127A>G, NM_001354084.1:c.*1127A>G, NM_001354089.2:c.*1127A>G, NM_001354089.1:c.*1127A>G, NM_001354091.2:c.*1127A>G, NM_001354091.1:c.*1127A>G, NM_001354095.2:c.*1127A>G, NM_001354095.1:c.*1127A>G, NM_001354094.2:c.*1127A>G, NM_001354094.1:c.*1127A>G, NM_001354081.2:c.*1127A>G, NM_001354081.1:c.*1127A>G, NM_001354097.2:c.*1127A>G, NM_001354097.1:c.*1127A>G, NM_001354086.2:c.*1127A>G, NM_001354086.1:c.*1127A>G, XM_024450454.2:c.*1127A>G, XM_024450454.1:c.*1127A>G, NM_001354083.2:c.*1127A>G, NM_001354083.1:c.*1127A>G, XM_017023703.2:c.*1127A>G, XM_017023703.1:c.*1127A>G, XM_047434673.1:c.*1127A>G, XM_047434670.1:c.*1127A>G, XM_047434675.1:c.*1127A>G, XM_047434671.1:c.*1127A>G, XM_047434672.1:c.*1127A>G, XM_047434677.1:c.*1127A>G, XM_047434669.1:c.*1127A>G, NM_001354087.1:c.*1127A>G, NM_001354079.1:c.*1127A>G, NM_001354080.1:c.*1127A>G, XM_047434676.1:c.*1127A>G, XM_047434678.1:c.*1127A>G, NM_001354093.1:c.*1127A>G, XM_047434679.1:c.*1127A>G, XM_047434680.1:c.*1127A>G, XM_047434681.1:c.*1127A>G, XM_047434668.1:c.*1127A>G, NM_001354082.1:c.*1127A>G, NM_001354078.1:c.*1127A>G, XM_017023704.1:c.*1127A>G

        4.

        rs1489956730 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          16:57153801 (GRCh38)
          16:57187713 (GRCh37)
          Canonical SPDI:
          NC_000016.10:57153800:A:C
          Gene:
          PSME3IP1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000011/3 (TOPMED)
          HGVS:
          NC_000016.10:g.57153801A>C, NC_000016.9:g.57187713A>C, NM_024946.4:c.*489T>G, NM_024946.3:c.*489T>G, NM_024946.2:c.*489T>G, XM_017023681.3:c.*489T>G, XM_017023681.2:c.*489T>G, XM_017023681.1:c.*489T>G, NM_001354103.2:c.*489T>G, NM_001354103.1:c.*489T>G, NM_001354102.2:c.*489T>G, NM_001354102.1:c.*489T>G, NM_001354101.2:c.*489T>G, NM_001354101.1:c.*489T>G, NM_001354099.2:c.*489T>G, NM_001354099.1:c.*489T>G, NM_001354100.2:c.*489T>G, NM_001354100.1:c.*489T>G, NM_001354098.2:c.*489T>G, NM_001354098.1:c.*489T>G, NM_001354096.2:c.*489T>G, NM_001354096.1:c.*489T>G, NM_001354092.2:c.*489T>G, NM_001354092.1:c.*489T>G, NM_001354090.2:c.*489T>G, NM_001354090.1:c.*489T>G, NM_001354085.2:c.*489T>G, NM_001354085.1:c.*489T>G, NM_001354088.2:c.*489T>G, NM_001354088.1:c.*489T>G, NM_001354084.2:c.*489T>G, NM_001354084.1:c.*489T>G, NM_001354089.2:c.*489T>G, NM_001354089.1:c.*489T>G, NM_001354091.2:c.*489T>G, NM_001354091.1:c.*489T>G, NM_001354095.2:c.*489T>G, NM_001354095.1:c.*489T>G, NM_001354094.2:c.*489T>G, NM_001354094.1:c.*489T>G, NM_001354081.2:c.*489T>G, NM_001354081.1:c.*489T>G, NM_001354097.2:c.*489T>G, NM_001354097.1:c.*489T>G, NM_001354086.2:c.*489T>G, NM_001354086.1:c.*489T>G, XM_024450454.2:c.*489T>G, XM_024450454.1:c.*489T>G, NM_001354083.2:c.*489T>G, NM_001354083.1:c.*489T>G, XM_017023703.2:c.*489T>G, XM_017023703.1:c.*489T>G, XM_047434673.1:c.*489T>G, XM_047434670.1:c.*489T>G, XM_047434675.1:c.*489T>G, XM_047434671.1:c.*489T>G, XM_047434672.1:c.*489T>G, XM_047434677.1:c.*489T>G, XM_047434669.1:c.*489T>G, NM_001354087.1:c.*489T>G, NM_001354079.1:c.*489T>G, NM_001354080.1:c.*489T>G, XM_047434676.1:c.*489T>G, XM_047434678.1:c.*489T>G, NM_001354093.1:c.*489T>G, XM_047434679.1:c.*489T>G, XM_047434680.1:c.*489T>G, XM_047434681.1:c.*489T>G, XM_047434668.1:c.*489T>G, NM_001354082.1:c.*489T>G, NM_001354078.1:c.*489T>G, XM_017023704.1:c.*489T>G

          5.

          rs1489504889 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            16:57178829 (GRCh38)
            16:57212741 (GRCh37)
            Canonical SPDI:
            NC_000016.10:57178828:T:A
            Gene:
            PSME3IP1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            HGVS:
            NC_000016.10:g.57178829T>A, NC_000016.9:g.57212741T>A, NM_001354103.2:c.-465A>T, NM_001354103.1:c.-465A>T, NM_001354102.2:c.-461A>T, NM_001354102.1:c.-461A>T, NM_001354101.2:c.-412A>T, NM_001354101.1:c.-412A>T, NM_001354099.2:c.-343A>T, NM_001354099.1:c.-343A>T, NM_001354096.2:c.-465A>T, NM_001354096.1:c.-465A>T, NM_001354092.2:c.-461A>T, NM_001354092.1:c.-461A>T, NM_001354090.2:c.-412A>T, NM_001354090.1:c.-412A>T, NM_001354088.2:c.-343A>T, NM_001354088.1:c.-343A>T, NM_001354084.2:c.-343A>T, NM_001354084.1:c.-343A>T, NM_001354095.2:c.-135A>T, NM_001354095.1:c.-135A>T, NM_001354094.2:c.-135A>T, NM_001354094.1:c.-135A>T, XM_047434673.1:c.-1940A>T, XM_047434670.1:c.-1940A>T, XM_047434675.1:c.-1940A>T, XM_047434671.1:c.-1940A>T, XM_047434672.1:c.-1940A>T, XM_047434677.1:c.-2027A>T, XM_047434669.1:c.-1940A>T, NM_001354087.1:c.-465A>T, NM_001354079.1:c.-461A>T, NM_001354080.1:c.-343A>T, XM_047434676.1:c.-310A>T, XM_047434678.1:c.-235A>T, XM_047434679.1:c.-166A>T, XM_047434680.1:c.-135A>T, XM_047434681.1:c.-89A>T

            6.

            rs1487859608 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              16:57153425 (GRCh38)
              16:57187337 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57153424:T:C
              Gene:
              PSME3IP1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000016.10:g.57153425T>C, NC_000016.9:g.57187337T>C, NM_024946.4:c.*865A>G, NM_024946.3:c.*865A>G, NM_024946.2:c.*865A>G, XM_017023681.3:c.*865A>G, XM_017023681.2:c.*865A>G, XM_017023681.1:c.*865A>G, NM_001354103.2:c.*865A>G, NM_001354103.1:c.*865A>G, NM_001354102.2:c.*865A>G, NM_001354102.1:c.*865A>G, NM_001354101.2:c.*865A>G, NM_001354101.1:c.*865A>G, NM_001354099.2:c.*865A>G, NM_001354099.1:c.*865A>G, NM_001354100.2:c.*865A>G, NM_001354100.1:c.*865A>G, NM_001354098.2:c.*865A>G, NM_001354098.1:c.*865A>G, NM_001354096.2:c.*865A>G, NM_001354096.1:c.*865A>G, NM_001354092.2:c.*865A>G, NM_001354092.1:c.*865A>G, NM_001354090.2:c.*865A>G, NM_001354090.1:c.*865A>G, NM_001354085.2:c.*865A>G, NM_001354085.1:c.*865A>G, NM_001354088.2:c.*865A>G, NM_001354088.1:c.*865A>G, NM_001354084.2:c.*865A>G, NM_001354084.1:c.*865A>G, NM_001354089.2:c.*865A>G, NM_001354089.1:c.*865A>G, NM_001354091.2:c.*865A>G, NM_001354091.1:c.*865A>G, NM_001354095.2:c.*865A>G, NM_001354095.1:c.*865A>G, NM_001354094.2:c.*865A>G, NM_001354094.1:c.*865A>G, NM_001354081.2:c.*865A>G, NM_001354081.1:c.*865A>G, NM_001354097.2:c.*865A>G, NM_001354097.1:c.*865A>G, NM_001354086.2:c.*865A>G, NM_001354086.1:c.*865A>G, XM_024450454.2:c.*865A>G, XM_024450454.1:c.*865A>G, NM_001354083.2:c.*865A>G, NM_001354083.1:c.*865A>G, XM_017023703.2:c.*865A>G, XM_017023703.1:c.*865A>G, XM_047434673.1:c.*865A>G, XM_047434670.1:c.*865A>G, XM_047434675.1:c.*865A>G, XM_047434671.1:c.*865A>G, XM_047434672.1:c.*865A>G, XM_047434677.1:c.*865A>G, XM_047434669.1:c.*865A>G, NM_001354087.1:c.*865A>G, NM_001354079.1:c.*865A>G, NM_001354080.1:c.*865A>G, XM_047434676.1:c.*865A>G, XM_047434678.1:c.*865A>G, NM_001354093.1:c.*865A>G, XM_047434679.1:c.*865A>G, XM_047434680.1:c.*865A>G, XM_047434681.1:c.*865A>G, XM_047434668.1:c.*865A>G, NM_001354082.1:c.*865A>G, NM_001354078.1:c.*865A>G, XM_017023704.1:c.*865A>G

              7.

              rs1487322046 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                16:57152589 (GRCh38)
                16:57186501 (GRCh37)
                Canonical SPDI:
                NC_000016.10:57152588:T:C
                Gene:
                PSME3IP1 (Varview)
                Functional Consequence:
                3_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_000016.10:g.57152589T>C, NC_000016.9:g.57186501T>C, NM_024946.4:c.*1701A>G, NM_024946.3:c.*1701A>G, NM_024946.2:c.*1701A>G, XM_017023681.3:c.*1701A>G, XM_017023681.2:c.*1701A>G, XM_017023681.1:c.*1701A>G, NM_001354103.2:c.*1701A>G, NM_001354103.1:c.*1701A>G, NM_001354102.2:c.*1701A>G, NM_001354102.1:c.*1701A>G, NM_001354101.2:c.*1701A>G, NM_001354101.1:c.*1701A>G, NM_001354099.2:c.*1701A>G, NM_001354099.1:c.*1701A>G, NM_001354100.2:c.*1701A>G, NM_001354100.1:c.*1701A>G, NM_001354098.2:c.*1701A>G, NM_001354098.1:c.*1701A>G, NM_001354096.2:c.*1701A>G, NM_001354096.1:c.*1701A>G, NM_001354092.2:c.*1701A>G, NM_001354092.1:c.*1701A>G, NM_001354090.2:c.*1701A>G, NM_001354090.1:c.*1701A>G, NM_001354085.2:c.*1701A>G, NM_001354085.1:c.*1701A>G, NM_001354088.2:c.*1701A>G, NM_001354088.1:c.*1701A>G, NM_001354084.2:c.*1701A>G, NM_001354084.1:c.*1701A>G, NM_001354089.2:c.*1701A>G, NM_001354089.1:c.*1701A>G, NM_001354091.2:c.*1701A>G, NM_001354091.1:c.*1701A>G, NM_001354095.2:c.*1701A>G, NM_001354095.1:c.*1701A>G, NM_001354094.2:c.*1701A>G, NM_001354094.1:c.*1701A>G, NM_001354081.2:c.*1701A>G, NM_001354081.1:c.*1701A>G, NM_001354097.2:c.*1701A>G, NM_001354097.1:c.*1701A>G, NM_001354086.2:c.*1701A>G, NM_001354086.1:c.*1701A>G, XM_024450454.2:c.*1701A>G, XM_024450454.1:c.*1701A>G, NM_001354083.2:c.*1701A>G, NM_001354083.1:c.*1701A>G, XM_017023703.2:c.*1701A>G, XM_017023703.1:c.*1701A>G, XM_047434673.1:c.*1701A>G, XM_047434670.1:c.*1701A>G, XM_047434675.1:c.*1701A>G, XM_047434671.1:c.*1701A>G, XM_047434672.1:c.*1701A>G, XM_047434677.1:c.*1701A>G, XM_047434669.1:c.*1701A>G, NM_001354087.1:c.*1701A>G, NM_001354079.1:c.*1701A>G, NM_001354080.1:c.*1701A>G, XM_047434676.1:c.*1701A>G, XM_047434678.1:c.*1701A>G, NM_001354093.1:c.*1701A>G, XM_047434679.1:c.*1701A>G, XM_047434680.1:c.*1701A>G, XM_047434681.1:c.*1701A>G, XM_047434668.1:c.*1701A>G, NM_001354082.1:c.*1701A>G, NM_001354078.1:c.*1701A>G, XM_017023704.1:c.*1701A>G

                8.

                rs1485377509 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  16:57153671 (GRCh38)
                  16:57187583 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:57153670:G:C
                  Gene:
                  PSME3IP1 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000016.10:g.57153671G>C, NC_000016.9:g.57187583G>C, NM_024946.4:c.*619C>G, NM_024946.3:c.*619C>G, NM_024946.2:c.*619C>G, XM_017023681.3:c.*619C>G, XM_017023681.2:c.*619C>G, XM_017023681.1:c.*619C>G, NM_001354103.2:c.*619C>G, NM_001354103.1:c.*619C>G, NM_001354102.2:c.*619C>G, NM_001354102.1:c.*619C>G, NM_001354101.2:c.*619C>G, NM_001354101.1:c.*619C>G, NM_001354099.2:c.*619C>G, NM_001354099.1:c.*619C>G, NM_001354100.2:c.*619C>G, NM_001354100.1:c.*619C>G, NM_001354098.2:c.*619C>G, NM_001354098.1:c.*619C>G, NM_001354096.2:c.*619C>G, NM_001354096.1:c.*619C>G, NM_001354092.2:c.*619C>G, NM_001354092.1:c.*619C>G, NM_001354090.2:c.*619C>G, NM_001354090.1:c.*619C>G, NM_001354085.2:c.*619C>G, NM_001354085.1:c.*619C>G, NM_001354088.2:c.*619C>G, NM_001354088.1:c.*619C>G, NM_001354084.2:c.*619C>G, NM_001354084.1:c.*619C>G, NM_001354089.2:c.*619C>G, NM_001354089.1:c.*619C>G, NM_001354091.2:c.*619C>G, NM_001354091.1:c.*619C>G, NM_001354095.2:c.*619C>G, NM_001354095.1:c.*619C>G, NM_001354094.2:c.*619C>G, NM_001354094.1:c.*619C>G, NM_001354081.2:c.*619C>G, NM_001354081.1:c.*619C>G, NM_001354097.2:c.*619C>G, NM_001354097.1:c.*619C>G, NM_001354086.2:c.*619C>G, NM_001354086.1:c.*619C>G, XM_024450454.2:c.*619C>G, XM_024450454.1:c.*619C>G, NM_001354083.2:c.*619C>G, NM_001354083.1:c.*619C>G, XM_017023703.2:c.*619C>G, XM_017023703.1:c.*619C>G, XM_047434673.1:c.*619C>G, XM_047434670.1:c.*619C>G, XM_047434675.1:c.*619C>G, XM_047434671.1:c.*619C>G, XM_047434672.1:c.*619C>G, XM_047434677.1:c.*619C>G, XM_047434669.1:c.*619C>G, NM_001354087.1:c.*619C>G, NM_001354079.1:c.*619C>G, NM_001354080.1:c.*619C>G, XM_047434676.1:c.*619C>G, XM_047434678.1:c.*619C>G, NM_001354093.1:c.*619C>G, XM_047434679.1:c.*619C>G, XM_047434680.1:c.*619C>G, XM_047434681.1:c.*619C>G, XM_047434668.1:c.*619C>G, NM_001354082.1:c.*619C>G, NM_001354078.1:c.*619C>G, XM_017023704.1:c.*619C>G

                  9.

                  rs1485325739 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    16:57172831 (GRCh38)
                    16:57206743 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57172830:C:A,NC_000016.10:57172830:C:G
                    Gene:
                    PSME3IP1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.00004/1 (TOMMO)
                    HGVS:
                    NC_000016.10:g.57172831C>A, NC_000016.10:g.57172831C>G, NC_000016.9:g.57206743C>A, NC_000016.9:g.57206743C>G, NM_024946.4:c.171G>T, NM_024946.4:c.171G>C, NM_024946.3:c.171G>T, NM_024946.3:c.171G>C, NM_024946.2:c.171G>T, NM_024946.2:c.171G>C, XM_017023681.3:c.189G>T, XM_017023681.3:c.189G>C, XM_017023681.2:c.189G>T, XM_017023681.2:c.189G>C, XM_017023681.1:c.189G>T, XM_017023681.1:c.189G>C, NM_001354103.2:c.171G>T, NM_001354103.2:c.171G>C, NM_001354103.1:c.171G>T, NM_001354103.1:c.171G>C, NM_001354102.2:c.171G>T, NM_001354102.2:c.171G>C, NM_001354102.1:c.171G>T, NM_001354102.1:c.171G>C, NM_001354101.2:c.171G>T, NM_001354101.2:c.171G>C, NM_001354101.1:c.171G>T, NM_001354101.1:c.171G>C, NM_001354099.2:c.171G>T, NM_001354099.2:c.171G>C, NM_001354099.1:c.171G>T, NM_001354099.1:c.171G>C, NM_001354100.2:c.171G>T, NM_001354100.2:c.171G>C, NM_001354100.1:c.171G>T, NM_001354100.1:c.171G>C, NM_001354098.2:c.249G>T, NM_001354098.2:c.249G>C, NM_001354098.1:c.249G>T, NM_001354098.1:c.249G>C, NM_001354096.2:c.171G>T, NM_001354096.2:c.171G>C, NM_001354096.1:c.171G>T, NM_001354096.1:c.171G>C, NM_001354092.2:c.171G>T, NM_001354092.2:c.171G>C, NM_001354092.1:c.171G>T, NM_001354092.1:c.171G>C, NM_001354090.2:c.171G>T, NM_001354090.2:c.171G>C, NM_001354090.1:c.171G>T, NM_001354090.1:c.171G>C, NM_001354085.2:c.171G>T, NM_001354085.2:c.171G>C, NM_001354085.1:c.171G>T, NM_001354085.1:c.171G>C, NM_001354088.2:c.171G>T, NM_001354088.2:c.171G>C, NM_001354088.1:c.171G>T, NM_001354088.1:c.171G>C, NM_001354084.2:c.171G>T, NM_001354084.2:c.171G>C, NM_001354084.1:c.171G>T, NM_001354084.1:c.171G>C, NM_001354089.2:c.171G>T, NM_001354089.2:c.171G>C, NM_001354089.1:c.171G>T, NM_001354089.1:c.171G>C, NM_001354091.2:c.171G>T, NM_001354091.2:c.171G>C, NM_001354091.1:c.171G>T, NM_001354091.1:c.171G>C, NM_001354095.2:c.171G>T, NM_001354095.2:c.171G>C, NM_001354095.1:c.171G>T, NM_001354095.1:c.171G>C, NM_001354094.2:c.171G>T, NM_001354094.2:c.171G>C, NM_001354094.1:c.171G>T, NM_001354094.1:c.171G>C, NM_001354081.2:c.171G>T, NM_001354081.2:c.171G>C, NM_001354081.1:c.171G>T, NM_001354081.1:c.171G>C, NM_001354097.2:c.171G>T, NM_001354097.2:c.171G>C, NM_001354097.1:c.171G>T, NM_001354097.1:c.171G>C, NM_001354086.2:c.171G>T, NM_001354086.2:c.171G>C, NM_001354086.1:c.171G>T, NM_001354086.1:c.171G>C, XM_024450454.2:c.171G>T, XM_024450454.2:c.171G>C, XM_024450454.1:c.171G>T, XM_024450454.1:c.171G>C, NM_001354083.2:c.171G>T, NM_001354083.2:c.171G>C, NM_001354083.1:c.171G>T, NM_001354083.1:c.171G>C, XM_017023703.2:c.171G>T, XM_017023703.2:c.171G>C, XM_017023703.1:c.171G>T, XM_017023703.1:c.171G>C, XM_047434673.1:c.189G>T, XM_047434673.1:c.189G>C, XM_047434670.1:c.189G>T, XM_047434670.1:c.189G>C, XM_047434675.1:c.189G>T, XM_047434675.1:c.189G>C, XM_047434671.1:c.189G>T, XM_047434671.1:c.189G>C, XM_047434672.1:c.189G>T, XM_047434672.1:c.189G>C, XM_047434677.1:c.171G>T, XM_047434677.1:c.171G>C, XM_047434669.1:c.189G>T, XM_047434669.1:c.189G>C, NM_001354087.1:c.171G>T, NM_001354087.1:c.171G>C, NM_001354079.1:c.171G>T, NM_001354079.1:c.171G>C, NM_001354080.1:c.171G>T, NM_001354080.1:c.171G>C, XM_047434676.1:c.189G>T, XM_047434676.1:c.189G>C, XM_047434678.1:c.171G>T, XM_047434678.1:c.171G>C, NM_001354093.1:c.171G>T, NM_001354093.1:c.171G>C, XM_047434679.1:c.171G>T, XM_047434679.1:c.171G>C, XM_047434680.1:c.171G>T, XM_047434680.1:c.171G>C, XM_047434681.1:c.171G>T, XM_047434681.1:c.171G>C, XM_047434668.1:c.210G>T, XM_047434668.1:c.210G>C, NM_001354082.1:c.171G>T, NM_001354082.1:c.171G>C, NM_001354078.1:c.171G>T, NM_001354078.1:c.171G>C, XM_017023704.1:c.171G>T, XM_017023704.1:c.171G>C, NP_079222.1:p.Arg57Ser, NP_079222.1:p.Arg57Ser, XP_016879170.1:p.Arg63Ser, XP_016879170.1:p.Arg63Ser, NP_001341032.1:p.Arg57Ser, NP_001341032.1:p.Arg57Ser, NP_001341031.1:p.Arg57Ser, NP_001341031.1:p.Arg57Ser, NP_001341030.1:p.Arg57Ser, NP_001341030.1:p.Arg57Ser, NP_001341028.1:p.Arg57Ser, NP_001341028.1:p.Arg57Ser, NP_001341029.1:p.Arg57Ser, NP_001341029.1:p.Arg57Ser, NP_001341027.1:p.Arg83Ser, NP_001341027.1:p.Arg83Ser, NP_001341025.1:p.Arg57Ser, NP_001341025.1:p.Arg57Ser, NP_001341021.1:p.Arg57Ser, NP_001341021.1:p.Arg57Ser, NP_001341019.1:p.Arg57Ser, NP_001341019.1:p.Arg57Ser, NP_001341014.1:p.Arg57Ser, NP_001341014.1:p.Arg57Ser, NP_001341017.1:p.Arg57Ser, NP_001341017.1:p.Arg57Ser, NP_001341013.1:p.Arg57Ser, NP_001341013.1:p.Arg57Ser, NP_001341018.1:p.Arg57Ser, NP_001341018.1:p.Arg57Ser, NP_001341020.1:p.Arg57Ser, NP_001341020.1:p.Arg57Ser, NP_001341024.1:p.Arg57Ser, NP_001341024.1:p.Arg57Ser, NP_001341023.1:p.Arg57Ser, NP_001341023.1:p.Arg57Ser, NP_001341010.1:p.Arg57Ser, NP_001341010.1:p.Arg57Ser, NP_001341026.1:p.Arg57Ser, NP_001341026.1:p.Arg57Ser, NP_001341015.1:p.Arg57Ser, NP_001341015.1:p.Arg57Ser, XP_024306222.1:p.Arg57Ser, XP_024306222.1:p.Arg57Ser, NP_001341012.1:p.Arg57Ser, NP_001341012.1:p.Arg57Ser, XP_016879192.1:p.Arg57Ser, XP_016879192.1:p.Arg57Ser, XP_047290629.1:p.Arg63Ser, XP_047290629.1:p.Arg63Ser, XP_047290626.1:p.Arg63Ser, XP_047290626.1:p.Arg63Ser, XP_047290631.1:p.Arg63Ser, XP_047290631.1:p.Arg63Ser, XP_047290627.1:p.Arg63Ser, XP_047290627.1:p.Arg63Ser, XP_047290628.1:p.Arg63Ser, XP_047290628.1:p.Arg63Ser, XP_047290633.1:p.Arg57Ser, XP_047290633.1:p.Arg57Ser, XP_047290625.1:p.Arg63Ser, XP_047290625.1:p.Arg63Ser, NP_001341016.1:p.Arg57Ser, NP_001341016.1:p.Arg57Ser, NP_001341008.1:p.Arg57Ser, NP_001341008.1:p.Arg57Ser, NP_001341009.1:p.Arg57Ser, NP_001341009.1:p.Arg57Ser, XP_047290632.1:p.Arg63Ser, XP_047290632.1:p.Arg63Ser, XP_047290634.1:p.Arg57Ser, XP_047290634.1:p.Arg57Ser, XP_047290635.1:p.Arg57Ser, XP_047290635.1:p.Arg57Ser, XP_047290636.1:p.Arg57Ser, XP_047290636.1:p.Arg57Ser, XP_047290637.1:p.Arg57Ser, XP_047290637.1:p.Arg57Ser, XP_047290624.1:p.Arg70Ser, XP_047290624.1:p.Arg70Ser, NP_001341011.1:p.Arg57Ser, NP_001341011.1:p.Arg57Ser, NP_001341007.1:p.Arg57Ser, NP_001341007.1:p.Arg57Ser, XP_016879193.1:p.Arg57Ser, XP_016879193.1:p.Arg57Ser

                    10.

                    rs1484780685 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:57154244 (GRCh38)
                      16:57188156 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57154243:T:C
                      Gene:
                      PSME3IP1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_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_000016.10:g.57154244T>C, NC_000016.9:g.57188156T>C, NM_024946.4:c.*46A>G, NM_024946.3:c.*46A>G, NM_024946.2:c.*46A>G, XM_017023681.3:c.*46A>G, XM_017023681.2:c.*46A>G, XM_017023681.1:c.*46A>G, NM_001354103.2:c.*46A>G, NM_001354103.1:c.*46A>G, NM_001354102.2:c.*46A>G, NM_001354102.1:c.*46A>G, NM_001354101.2:c.*46A>G, NM_001354101.1:c.*46A>G, NM_001354099.2:c.*46A>G, NM_001354099.1:c.*46A>G, NM_001354100.2:c.*46A>G, NM_001354100.1:c.*46A>G, NM_001354098.2:c.*46A>G, NM_001354098.1:c.*46A>G, NM_001354096.2:c.*46A>G, NM_001354096.1:c.*46A>G, NM_001354092.2:c.*46A>G, NM_001354092.1:c.*46A>G, NM_001354090.2:c.*46A>G, NM_001354090.1:c.*46A>G, NM_001354085.2:c.*46A>G, NM_001354085.1:c.*46A>G, NM_001354088.2:c.*46A>G, NM_001354088.1:c.*46A>G, NM_001354084.2:c.*46A>G, NM_001354084.1:c.*46A>G, NM_001354089.2:c.*46A>G, NM_001354089.1:c.*46A>G, NM_001354091.2:c.*46A>G, NM_001354091.1:c.*46A>G, NM_001354095.2:c.*46A>G, NM_001354095.1:c.*46A>G, NM_001354094.2:c.*46A>G, NM_001354094.1:c.*46A>G, NM_001354081.2:c.*46A>G, NM_001354081.1:c.*46A>G, NM_001354097.2:c.*46A>G, NM_001354097.1:c.*46A>G, NM_001354086.2:c.*46A>G, NM_001354086.1:c.*46A>G, XM_024450454.2:c.*46A>G, XM_024450454.1:c.*46A>G, NM_001354083.2:c.*46A>G, NM_001354083.1:c.*46A>G, XM_017023703.2:c.*46A>G, XM_017023703.1:c.*46A>G, XM_047434673.1:c.*46A>G, XM_047434670.1:c.*46A>G, XM_047434675.1:c.*46A>G, XM_047434671.1:c.*46A>G, XM_047434672.1:c.*46A>G, XM_047434677.1:c.*46A>G, XM_047434669.1:c.*46A>G, NM_001354087.1:c.*46A>G, NM_001354079.1:c.*46A>G, NM_001354080.1:c.*46A>G, XM_047434676.1:c.*46A>G, XM_047434678.1:c.*46A>G, NM_001354093.1:c.*46A>G, XM_047434679.1:c.*46A>G, XM_047434680.1:c.*46A>G, XM_047434681.1:c.*46A>G, XM_047434668.1:c.*46A>G, NM_001354082.1:c.*46A>G, NM_001354078.1:c.*46A>G, XM_017023704.1:c.*46A>G

                      11.

                      rs1484731642 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:57172252 (GRCh38)
                        16:57206164 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57172251:C:T
                        Gene:
                        PSME3IP1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_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_000016.10:g.57172252C>T, NC_000016.9:g.57206164C>T, NM_024946.4:c.347G>A, NM_024946.3:c.347G>A, NM_024946.2:c.347G>A, XM_017023681.3:c.365G>A, XM_017023681.2:c.365G>A, XM_017023681.1:c.365G>A, NM_001354103.2:c.347G>A, NM_001354103.1:c.347G>A, NM_001354102.2:c.347G>A, NM_001354102.1:c.347G>A, NM_001354101.2:c.347G>A, NM_001354101.1:c.347G>A, NM_001354099.2:c.347G>A, NM_001354099.1:c.347G>A, NM_001354100.2:c.347G>A, NM_001354100.1:c.347G>A, NM_001354098.2:c.425G>A, NM_001354098.1:c.425G>A, NM_001354096.2:c.347G>A, NM_001354096.1:c.347G>A, NM_001354092.2:c.347G>A, NM_001354092.1:c.347G>A, NM_001354090.2:c.347G>A, NM_001354090.1:c.347G>A, NM_001354085.2:c.347G>A, NM_001354085.1:c.347G>A, NM_001354088.2:c.347G>A, NM_001354088.1:c.347G>A, NM_001354084.2:c.347G>A, NM_001354084.1:c.347G>A, NM_001354089.2:c.347G>A, NM_001354089.1:c.347G>A, NM_001354091.2:c.347G>A, NM_001354091.1:c.347G>A, NM_001354095.2:c.347G>A, NM_001354095.1:c.347G>A, NM_001354094.2:c.347G>A, NM_001354094.1:c.347G>A, NM_001354081.2:c.347G>A, NM_001354081.1:c.347G>A, NM_001354097.2:c.347G>A, NM_001354097.1:c.347G>A, NM_001354086.2:c.347G>A, NM_001354086.1:c.347G>A, XM_024450454.2:c.347G>A, XM_024450454.1:c.347G>A, NM_001354083.2:c.347G>A, NM_001354083.1:c.347G>A, XM_017023703.2:c.347G>A, XM_017023703.1:c.347G>A, XM_047434673.1:c.365G>A, XM_047434670.1:c.365G>A, XM_047434675.1:c.365G>A, XM_047434671.1:c.365G>A, XM_047434672.1:c.365G>A, XM_047434677.1:c.347G>A, XM_047434669.1:c.365G>A, NM_001354087.1:c.347G>A, NM_001354079.1:c.347G>A, NM_001354080.1:c.347G>A, XM_047434676.1:c.365G>A, XM_047434678.1:c.347G>A, NM_001354093.1:c.347G>A, XM_047434679.1:c.347G>A, XM_047434680.1:c.347G>A, XM_047434681.1:c.347G>A, XM_047434668.1:c.386G>A, NM_001354082.1:c.347G>A, NM_001354078.1:c.347G>A, XM_017023704.1:c.347G>A, NP_079222.1:p.Arg116Lys, XP_016879170.1:p.Arg122Lys, NP_001341032.1:p.Arg116Lys, NP_001341031.1:p.Arg116Lys, NP_001341030.1:p.Arg116Lys, NP_001341028.1:p.Arg116Lys, NP_001341029.1:p.Arg116Lys, NP_001341027.1:p.Arg142Lys, NP_001341025.1:p.Arg116Lys, NP_001341021.1:p.Arg116Lys, NP_001341019.1:p.Arg116Lys, NP_001341014.1:p.Arg116Lys, NP_001341017.1:p.Arg116Lys, NP_001341013.1:p.Arg116Lys, NP_001341018.1:p.Arg116Lys, NP_001341020.1:p.Arg116Lys, NP_001341024.1:p.Arg116Lys, NP_001341023.1:p.Arg116Lys, NP_001341010.1:p.Arg116Lys, NP_001341026.1:p.Arg116Lys, NP_001341015.1:p.Arg116Lys, XP_024306222.1:p.Arg116Lys, NP_001341012.1:p.Arg116Lys, XP_016879192.1:p.Arg116Lys, XP_047290629.1:p.Arg122Lys, XP_047290626.1:p.Arg122Lys, XP_047290631.1:p.Arg122Lys, XP_047290627.1:p.Arg122Lys, XP_047290628.1:p.Arg122Lys, XP_047290633.1:p.Arg116Lys, XP_047290625.1:p.Arg122Lys, NP_001341016.1:p.Arg116Lys, NP_001341008.1:p.Arg116Lys, NP_001341009.1:p.Arg116Lys, XP_047290632.1:p.Arg122Lys, XP_047290634.1:p.Arg116Lys, XP_047290635.1:p.Arg116Lys, XP_047290636.1:p.Arg116Lys, XP_047290637.1:p.Arg116Lys, XP_047290624.1:p.Arg129Lys, NP_001341011.1:p.Arg116Lys, NP_001341007.1:p.Arg116Lys, XP_016879193.1:p.Arg116Lys

                        12.

                        rs1483637542 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          A>- [Show Flanks]
                          Chromosome:
                          16:57178774 (GRCh38)
                          16:57212686 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57178773:AAAAA:AAAA
                          Gene:
                          PSME3IP1 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAA=0.000071/1 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000016.10:g.57178778del, NC_000016.9:g.57212690del, NM_001354103.2:c.-410del, NM_001354103.1:c.-410del, NM_001354102.2:c.-406del, NM_001354102.1:c.-406del, NM_001354101.2:c.-357del, NM_001354101.1:c.-357del, NM_001354099.2:c.-288del, NM_001354099.1:c.-288del, NM_001354096.2:c.-410del, NM_001354096.1:c.-410del, NM_001354092.2:c.-406del, NM_001354092.1:c.-406del, NM_001354090.2:c.-357del, NM_001354090.1:c.-357del, NM_001354088.2:c.-288del, NM_001354088.1:c.-288del, NM_001354084.2:c.-288del, NM_001354084.1:c.-288del, NM_001354095.2:c.-80del, NM_001354095.1:c.-80del, NM_001354094.2:c.-80del, NM_001354094.1:c.-80del, XM_047434673.1:c.-1885del, XM_047434670.1:c.-1885del, XM_047434675.1:c.-1885del, XM_047434671.1:c.-1885del, XM_047434672.1:c.-1885del, XM_047434677.1:c.-1972del, XM_047434669.1:c.-1885del, NM_001354087.1:c.-410del, NM_001354079.1:c.-406del, NM_001354080.1:c.-288del, XM_047434676.1:c.-255del, XM_047434678.1:c.-180del, XM_047434679.1:c.-111del, XM_047434680.1:c.-80del, XM_047434681.1:c.-34del

                          13.

                          rs1483572383 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            16:57167099 (GRCh38)
                            16:57201011 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57167098:T:G
                            Gene:
                            PSME3IP1 (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=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000016.10:g.57167099T>G, NC_000016.9:g.57201011T>G, NM_024946.4:c.476A>C, NM_024946.3:c.476A>C, NM_024946.2:c.476A>C, XM_017023681.3:c.494A>C, XM_017023681.2:c.494A>C, XM_017023681.1:c.494A>C, NM_001354103.2:c.476A>C, NM_001354103.1:c.476A>C, NM_001354102.2:c.476A>C, NM_001354102.1:c.476A>C, NM_001354101.2:c.476A>C, NM_001354101.1:c.476A>C, NM_001354099.2:c.476A>C, NM_001354099.1:c.476A>C, NM_001354100.2:c.476A>C, NM_001354100.1:c.476A>C, NM_001354098.2:c.554A>C, NM_001354098.1:c.554A>C, NM_001354096.2:c.476A>C, NM_001354096.1:c.476A>C, NM_001354092.2:c.476A>C, NM_001354092.1:c.476A>C, NM_001354090.2:c.476A>C, NM_001354090.1:c.476A>C, NM_001354085.2:c.476A>C, NM_001354085.1:c.476A>C, NM_001354088.2:c.476A>C, NM_001354088.1:c.476A>C, NM_001354084.2:c.476A>C, NM_001354084.1:c.476A>C, NM_001354089.2:c.476A>C, NM_001354089.1:c.476A>C, NM_001354091.2:c.476A>C, NM_001354091.1:c.476A>C, NM_001354095.2:c.476A>C, NM_001354095.1:c.476A>C, NM_001354094.2:c.476A>C, NM_001354094.1:c.476A>C, NM_001354081.2:c.476A>C, NM_001354081.1:c.476A>C, NM_001354097.2:c.476A>C, NM_001354097.1:c.476A>C, NM_001354086.2:c.476A>C, NM_001354086.1:c.476A>C, XM_024450454.2:c.476A>C, XM_024450454.1:c.476A>C, NM_001354083.2:c.476A>C, NM_001354083.1:c.476A>C, XM_017023703.2:c.476A>C, XM_017023703.1:c.476A>C, XM_047434673.1:c.494A>C, XM_047434670.1:c.494A>C, XM_047434675.1:c.494A>C, XM_047434671.1:c.494A>C, XM_047434672.1:c.494A>C, XM_047434677.1:c.476A>C, XM_047434669.1:c.494A>C, NM_001354087.1:c.476A>C, NM_001354079.1:c.476A>C, NM_001354080.1:c.476A>C, XM_047434676.1:c.494A>C, XM_047434678.1:c.476A>C, NM_001354093.1:c.476A>C, XM_047434679.1:c.476A>C, XM_047434680.1:c.476A>C, XM_047434681.1:c.476A>C, XM_047434668.1:c.515A>C, NM_001354082.1:c.476A>C, NM_001354078.1:c.476A>C, XM_017023704.1:c.476A>C, NP_079222.1:p.His159Pro, XP_016879170.1:p.His165Pro, NP_001341032.1:p.His159Pro, NP_001341031.1:p.His159Pro, NP_001341030.1:p.His159Pro, NP_001341028.1:p.His159Pro, NP_001341029.1:p.His159Pro, NP_001341027.1:p.His185Pro, NP_001341025.1:p.His159Pro, NP_001341021.1:p.His159Pro, NP_001341019.1:p.His159Pro, NP_001341014.1:p.His159Pro, NP_001341017.1:p.His159Pro, NP_001341013.1:p.His159Pro, NP_001341018.1:p.His159Pro, NP_001341020.1:p.His159Pro, NP_001341024.1:p.His159Pro, NP_001341023.1:p.His159Pro, NP_001341010.1:p.His159Pro, NP_001341026.1:p.His159Pro, NP_001341015.1:p.His159Pro, XP_024306222.1:p.His159Pro, NP_001341012.1:p.His159Pro, XP_016879192.1:p.His159Pro, XP_047290629.1:p.His165Pro, XP_047290626.1:p.His165Pro, XP_047290631.1:p.His165Pro, XP_047290627.1:p.His165Pro, XP_047290628.1:p.His165Pro, XP_047290633.1:p.His159Pro, XP_047290625.1:p.His165Pro, NP_001341016.1:p.His159Pro, NP_001341008.1:p.His159Pro, NP_001341009.1:p.His159Pro, XP_047290632.1:p.His165Pro, XP_047290634.1:p.His159Pro, XP_047290635.1:p.His159Pro, XP_047290636.1:p.His159Pro, XP_047290637.1:p.His159Pro, XP_047290624.1:p.His172Pro, NP_001341011.1:p.His159Pro, NP_001341007.1:p.His159Pro, XP_016879193.1:p.His159Pro

                            14.

                            rs1482476318 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              16:57152493 (GRCh38)
                              16:57186405 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57152492:T:C
                              Gene:
                              PSME3IP1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000016.10:g.57152493T>C, NC_000016.9:g.57186405T>C, NM_024946.4:c.*1797A>G, NM_024946.3:c.*1797A>G, NM_024946.2:c.*1797A>G, XM_017023681.3:c.*1797A>G, XM_017023681.2:c.*1797A>G, XM_017023681.1:c.*1797A>G, NM_001354103.2:c.*1797A>G, NM_001354103.1:c.*1797A>G, NM_001354102.2:c.*1797A>G, NM_001354102.1:c.*1797A>G, NM_001354101.2:c.*1797A>G, NM_001354101.1:c.*1797A>G, NM_001354099.2:c.*1797A>G, NM_001354099.1:c.*1797A>G, NM_001354100.2:c.*1797A>G, NM_001354100.1:c.*1797A>G, NM_001354098.2:c.*1797A>G, NM_001354098.1:c.*1797A>G, NM_001354096.2:c.*1797A>G, NM_001354096.1:c.*1797A>G, NM_001354092.2:c.*1797A>G, NM_001354092.1:c.*1797A>G, NM_001354090.2:c.*1797A>G, NM_001354090.1:c.*1797A>G, NM_001354085.2:c.*1797A>G, NM_001354085.1:c.*1797A>G, NM_001354088.2:c.*1797A>G, NM_001354088.1:c.*1797A>G, NM_001354084.2:c.*1797A>G, NM_001354084.1:c.*1797A>G, NM_001354089.2:c.*1797A>G, NM_001354089.1:c.*1797A>G, NM_001354091.2:c.*1797A>G, NM_001354091.1:c.*1797A>G, NM_001354095.2:c.*1797A>G, NM_001354095.1:c.*1797A>G, NM_001354094.2:c.*1797A>G, NM_001354094.1:c.*1797A>G, NM_001354081.2:c.*1797A>G, NM_001354081.1:c.*1797A>G, NM_001354097.2:c.*1797A>G, NM_001354097.1:c.*1797A>G, NM_001354086.2:c.*1797A>G, NM_001354086.1:c.*1797A>G, XM_024450454.2:c.*1797A>G, XM_024450454.1:c.*1797A>G, NM_001354083.2:c.*1797A>G, NM_001354083.1:c.*1797A>G, XM_017023703.2:c.*1797A>G, XM_017023703.1:c.*1797A>G, XM_047434673.1:c.*1797A>G, XM_047434670.1:c.*1797A>G, XM_047434675.1:c.*1797A>G, XM_047434671.1:c.*1797A>G, XM_047434672.1:c.*1797A>G, XM_047434677.1:c.*1797A>G, XM_047434669.1:c.*1797A>G, NM_001354087.1:c.*1797A>G, NM_001354079.1:c.*1797A>G, NM_001354080.1:c.*1797A>G, XM_047434676.1:c.*1797A>G, XM_047434678.1:c.*1797A>G, NM_001354093.1:c.*1797A>G, XM_047434679.1:c.*1797A>G, XM_047434680.1:c.*1797A>G, XM_047434681.1:c.*1797A>G, XM_047434668.1:c.*1797A>G, NM_001354082.1:c.*1797A>G, NM_001354078.1:c.*1797A>G, XM_017023704.1:c.*1797A>G

                              15.

                              rs1482007148 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ATA>- [Show Flanks]
                                Chromosome:
                                16:57153355 (GRCh38)
                                16:57187267 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57153351:ATAATA:ATA
                                Gene:
                                PSME3IP1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATAATA=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000011/3 (TOPMED)
                                -=0.001667/1 (NorthernSweden)
                                HGVS:
                                NC_000016.10:g.57153352ATA[1], NC_000016.9:g.57187264ATA[1], NM_024946.4:c.*933TAT[1], NM_024946.3:c.*933TAT[1], NM_024946.2:c.*933TAT[1], XM_017023681.3:c.*933TAT[1], XM_017023681.2:c.*933TAT[1], XM_017023681.1:c.*933TAT[1], NM_001354103.2:c.*933TAT[1], NM_001354103.1:c.*933TAT[1], NM_001354102.2:c.*933TAT[1], NM_001354102.1:c.*933TAT[1], NM_001354101.2:c.*933TAT[1], NM_001354101.1:c.*933TAT[1], NM_001354099.2:c.*933TAT[1], NM_001354099.1:c.*933TAT[1], NM_001354100.2:c.*933TAT[1], NM_001354100.1:c.*933TAT[1], NM_001354098.2:c.*933TAT[1], NM_001354098.1:c.*933TAT[1], NM_001354096.2:c.*933TAT[1], NM_001354096.1:c.*933TAT[1], NM_001354092.2:c.*933TAT[1], NM_001354092.1:c.*933TAT[1], NM_001354090.2:c.*933TAT[1], NM_001354090.1:c.*933TAT[1], NM_001354085.2:c.*933TAT[1], NM_001354085.1:c.*933TAT[1], NM_001354088.2:c.*933TAT[1], NM_001354088.1:c.*933TAT[1], NM_001354084.2:c.*933TAT[1], NM_001354084.1:c.*933TAT[1], NM_001354089.2:c.*933TAT[1], NM_001354089.1:c.*933TAT[1], NM_001354091.2:c.*933TAT[1], NM_001354091.1:c.*933TAT[1], NM_001354095.2:c.*933TAT[1], NM_001354095.1:c.*933TAT[1], NM_001354094.2:c.*933TAT[1], NM_001354094.1:c.*933TAT[1], NM_001354081.2:c.*933TAT[1], NM_001354081.1:c.*933TAT[1], NM_001354097.2:c.*933TAT[1], NM_001354097.1:c.*933TAT[1], NM_001354086.2:c.*933TAT[1], NM_001354086.1:c.*933TAT[1], XM_024450454.2:c.*933TAT[1], XM_024450454.1:c.*933TAT[1], NM_001354083.2:c.*933TAT[1], NM_001354083.1:c.*933TAT[1], XM_017023703.2:c.*933TAT[1], XM_017023703.1:c.*933TAT[1], XM_047434673.1:c.*933TAT[1], XM_047434670.1:c.*933TAT[1], XM_047434675.1:c.*933TAT[1], XM_047434671.1:c.*933TAT[1], XM_047434672.1:c.*933TAT[1], XM_047434677.1:c.*933TAT[1], XM_047434669.1:c.*933TAT[1], NM_001354087.1:c.*933TAT[1], NM_001354079.1:c.*933TAT[1], NM_001354080.1:c.*933TAT[1], XM_047434676.1:c.*933TAT[1], XM_047434678.1:c.*933TAT[1], NM_001354093.1:c.*933TAT[1], XM_047434679.1:c.*933TAT[1], XM_047434680.1:c.*933TAT[1], XM_047434681.1:c.*933TAT[1], XM_047434668.1:c.*933TAT[1], NM_001354082.1:c.*933TAT[1], NM_001354078.1:c.*933TAT[1], XM_017023704.1:c.*933TAT[1]

                                16.

                                rs1481598395 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,T [Show Flanks]
                                  Chromosome:
                                  16:57153509 (GRCh38)
                                  16:57187421 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57153508:A:C,NC_000016.10:57153508:A:T
                                  Gene:
                                  PSME3IP1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000016.10:g.57153509A>C, NC_000016.10:g.57153509A>T, NC_000016.9:g.57187421A>C, NC_000016.9:g.57187421A>T, NM_024946.4:c.*781T>G, NM_024946.4:c.*781T>A, NM_024946.3:c.*781T>G, NM_024946.3:c.*781T>A, NM_024946.2:c.*781T>G, NM_024946.2:c.*781T>A, XM_017023681.3:c.*781T>G, XM_017023681.3:c.*781T>A, XM_017023681.2:c.*781T>G, XM_017023681.2:c.*781T>A, XM_017023681.1:c.*781T>G, XM_017023681.1:c.*781T>A, NM_001354103.2:c.*781T>G, NM_001354103.2:c.*781T>A, NM_001354103.1:c.*781T>G, NM_001354103.1:c.*781T>A, NM_001354102.2:c.*781T>G, NM_001354102.2:c.*781T>A, NM_001354102.1:c.*781T>G, NM_001354102.1:c.*781T>A, NM_001354101.2:c.*781T>G, NM_001354101.2:c.*781T>A, NM_001354101.1:c.*781T>G, NM_001354101.1:c.*781T>A, NM_001354099.2:c.*781T>G, NM_001354099.2:c.*781T>A, NM_001354099.1:c.*781T>G, NM_001354099.1:c.*781T>A, NM_001354100.2:c.*781T>G, NM_001354100.2:c.*781T>A, NM_001354100.1:c.*781T>G, NM_001354100.1:c.*781T>A, NM_001354098.2:c.*781T>G, NM_001354098.2:c.*781T>A, NM_001354098.1:c.*781T>G, NM_001354098.1:c.*781T>A, NM_001354096.2:c.*781T>G, NM_001354096.2:c.*781T>A, NM_001354096.1:c.*781T>G, NM_001354096.1:c.*781T>A, NM_001354092.2:c.*781T>G, NM_001354092.2:c.*781T>A, NM_001354092.1:c.*781T>G, NM_001354092.1:c.*781T>A, NM_001354090.2:c.*781T>G, NM_001354090.2:c.*781T>A, NM_001354090.1:c.*781T>G, NM_001354090.1:c.*781T>A, NM_001354085.2:c.*781T>G, NM_001354085.2:c.*781T>A, NM_001354085.1:c.*781T>G, NM_001354085.1:c.*781T>A, NM_001354088.2:c.*781T>G, NM_001354088.2:c.*781T>A, NM_001354088.1:c.*781T>G, NM_001354088.1:c.*781T>A, NM_001354084.2:c.*781T>G, NM_001354084.2:c.*781T>A, NM_001354084.1:c.*781T>G, NM_001354084.1:c.*781T>A, NM_001354089.2:c.*781T>G, NM_001354089.2:c.*781T>A, NM_001354089.1:c.*781T>G, NM_001354089.1:c.*781T>A, NM_001354091.2:c.*781T>G, NM_001354091.2:c.*781T>A, NM_001354091.1:c.*781T>G, NM_001354091.1:c.*781T>A, NM_001354095.2:c.*781T>G, NM_001354095.2:c.*781T>A, NM_001354095.1:c.*781T>G, NM_001354095.1:c.*781T>A, NM_001354094.2:c.*781T>G, NM_001354094.2:c.*781T>A, NM_001354094.1:c.*781T>G, NM_001354094.1:c.*781T>A, NM_001354081.2:c.*781T>G, NM_001354081.2:c.*781T>A, NM_001354081.1:c.*781T>G, NM_001354081.1:c.*781T>A, NM_001354097.2:c.*781T>G, NM_001354097.2:c.*781T>A, NM_001354097.1:c.*781T>G, NM_001354097.1:c.*781T>A, NM_001354086.2:c.*781T>G, NM_001354086.2:c.*781T>A, NM_001354086.1:c.*781T>G, NM_001354086.1:c.*781T>A, XM_024450454.2:c.*781T>G, XM_024450454.2:c.*781T>A, XM_024450454.1:c.*781T>G, XM_024450454.1:c.*781T>A, NM_001354083.2:c.*781T>G, NM_001354083.2:c.*781T>A, NM_001354083.1:c.*781T>G, NM_001354083.1:c.*781T>A, XM_017023703.2:c.*781T>G, XM_017023703.2:c.*781T>A, XM_017023703.1:c.*781T>G, XM_017023703.1:c.*781T>A, XM_047434673.1:c.*781T>G, XM_047434673.1:c.*781T>A, XM_047434670.1:c.*781T>G, XM_047434670.1:c.*781T>A, XM_047434675.1:c.*781T>G, XM_047434675.1:c.*781T>A, XM_047434671.1:c.*781T>G, XM_047434671.1:c.*781T>A, XM_047434672.1:c.*781T>G, XM_047434672.1:c.*781T>A, XM_047434677.1:c.*781T>G, XM_047434677.1:c.*781T>A, XM_047434669.1:c.*781T>G, XM_047434669.1:c.*781T>A, NM_001354087.1:c.*781T>G, NM_001354087.1:c.*781T>A, NM_001354079.1:c.*781T>G, NM_001354079.1:c.*781T>A, NM_001354080.1:c.*781T>G, NM_001354080.1:c.*781T>A, XM_047434676.1:c.*781T>G, XM_047434676.1:c.*781T>A, XM_047434678.1:c.*781T>G, XM_047434678.1:c.*781T>A, NM_001354093.1:c.*781T>G, NM_001354093.1:c.*781T>A, XM_047434679.1:c.*781T>G, XM_047434679.1:c.*781T>A, XM_047434680.1:c.*781T>G, XM_047434680.1:c.*781T>A, XM_047434681.1:c.*781T>G, XM_047434681.1:c.*781T>A, XM_047434668.1:c.*781T>G, XM_047434668.1:c.*781T>A, NM_001354082.1:c.*781T>G, NM_001354082.1:c.*781T>A, NM_001354078.1:c.*781T>G, NM_001354078.1:c.*781T>A, XM_017023704.1:c.*781T>G, XM_017023704.1:c.*781T>A

                                  17.

                                  rs1481251612 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    16:57152844 (GRCh38)
                                    16:57186756 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57152843:G:C
                                    Gene:
                                    PSME3IP1 (Varview)
                                    Functional Consequence:
                                    3_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_000016.10:g.57152844G>C, NC_000016.9:g.57186756G>C, NM_024946.4:c.*1446C>G, NM_024946.3:c.*1446C>G, NM_024946.2:c.*1446C>G, XM_017023681.3:c.*1446C>G, XM_017023681.2:c.*1446C>G, XM_017023681.1:c.*1446C>G, NM_001354103.2:c.*1446C>G, NM_001354103.1:c.*1446C>G, NM_001354102.2:c.*1446C>G, NM_001354102.1:c.*1446C>G, NM_001354101.2:c.*1446C>G, NM_001354101.1:c.*1446C>G, NM_001354099.2:c.*1446C>G, NM_001354099.1:c.*1446C>G, NM_001354100.2:c.*1446C>G, NM_001354100.1:c.*1446C>G, NM_001354098.2:c.*1446C>G, NM_001354098.1:c.*1446C>G, NM_001354096.2:c.*1446C>G, NM_001354096.1:c.*1446C>G, NM_001354092.2:c.*1446C>G, NM_001354092.1:c.*1446C>G, NM_001354090.2:c.*1446C>G, NM_001354090.1:c.*1446C>G, NM_001354085.2:c.*1446C>G, NM_001354085.1:c.*1446C>G, NM_001354088.2:c.*1446C>G, NM_001354088.1:c.*1446C>G, NM_001354084.2:c.*1446C>G, NM_001354084.1:c.*1446C>G, NM_001354089.2:c.*1446C>G, NM_001354089.1:c.*1446C>G, NM_001354091.2:c.*1446C>G, NM_001354091.1:c.*1446C>G, NM_001354095.2:c.*1446C>G, NM_001354095.1:c.*1446C>G, NM_001354094.2:c.*1446C>G, NM_001354094.1:c.*1446C>G, NM_001354081.2:c.*1446C>G, NM_001354081.1:c.*1446C>G, NM_001354097.2:c.*1446C>G, NM_001354097.1:c.*1446C>G, NM_001354086.2:c.*1446C>G, NM_001354086.1:c.*1446C>G, XM_024450454.2:c.*1446C>G, XM_024450454.1:c.*1446C>G, NM_001354083.2:c.*1446C>G, NM_001354083.1:c.*1446C>G, XM_017023703.2:c.*1446C>G, XM_017023703.1:c.*1446C>G, XM_047434673.1:c.*1446C>G, XM_047434670.1:c.*1446C>G, XM_047434675.1:c.*1446C>G, XM_047434671.1:c.*1446C>G, XM_047434672.1:c.*1446C>G, XM_047434677.1:c.*1446C>G, XM_047434669.1:c.*1446C>G, NM_001354087.1:c.*1446C>G, NM_001354079.1:c.*1446C>G, NM_001354080.1:c.*1446C>G, XM_047434676.1:c.*1446C>G, XM_047434678.1:c.*1446C>G, NM_001354093.1:c.*1446C>G, XM_047434679.1:c.*1446C>G, XM_047434680.1:c.*1446C>G, XM_047434681.1:c.*1446C>G, XM_047434668.1:c.*1446C>G, NM_001354082.1:c.*1446C>G, NM_001354078.1:c.*1446C>G, XM_017023704.1:c.*1446C>G

                                    18.

                                    rs1480345420 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      16:57154298 (GRCh38)
                                      16:57188210 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:57154297:C:A
                                      Gene:
                                      PSME3IP1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000035/1 (TOMMO)
                                      A=0.002397/7 (KOREAN)
                                      HGVS:
                                      NC_000016.10:g.57154298C>A, NC_000016.9:g.57188210C>A, NM_024946.4:c.757G>T, NM_024946.3:c.757G>T, NM_024946.2:c.757G>T, XM_017023681.3:c.775G>T, XM_017023681.2:c.775G>T, XM_017023681.1:c.775G>T, NM_001354103.2:c.757G>T, NM_001354103.1:c.757G>T, NM_001354102.2:c.757G>T, NM_001354102.1:c.757G>T, NM_001354101.2:c.757G>T, NM_001354101.1:c.757G>T, NM_001354099.2:c.757G>T, NM_001354099.1:c.757G>T, NM_001354100.2:c.757G>T, NM_001354100.1:c.757G>T, NM_001354098.2:c.835G>T, NM_001354098.1:c.835G>T, NM_001354096.2:c.757G>T, NM_001354096.1:c.757G>T, NM_001354092.2:c.757G>T, NM_001354092.1:c.757G>T, NM_001354090.2:c.757G>T, NM_001354090.1:c.757G>T, NM_001354085.2:c.757G>T, NM_001354085.1:c.757G>T, NM_001354088.2:c.757G>T, NM_001354088.1:c.757G>T, NM_001354084.2:c.757G>T, NM_001354084.1:c.757G>T, NM_001354089.2:c.757G>T, NM_001354089.1:c.757G>T, NM_001354091.2:c.757G>T, NM_001354091.1:c.757G>T, NM_001354095.2:c.757G>T, NM_001354095.1:c.757G>T, NM_001354094.2:c.757G>T, NM_001354094.1:c.757G>T, NM_001354081.2:c.757G>T, NM_001354081.1:c.757G>T, NM_001354097.2:c.757G>T, NM_001354097.1:c.757G>T, NM_001354086.2:c.757G>T, NM_001354086.1:c.757G>T, XM_024450454.2:c.757G>T, XM_024450454.1:c.757G>T, NM_001354083.2:c.757G>T, NM_001354083.1:c.757G>T, XM_017023703.2:c.757G>T, XM_017023703.1:c.757G>T, XM_047434673.1:c.775G>T, XM_047434670.1:c.775G>T, XM_047434675.1:c.775G>T, XM_047434671.1:c.775G>T, XM_047434672.1:c.775G>T, XM_047434677.1:c.757G>T, XM_047434669.1:c.775G>T, NM_001354087.1:c.757G>T, NM_001354079.1:c.757G>T, NM_001354080.1:c.757G>T, XM_047434676.1:c.775G>T, XM_047434678.1:c.757G>T, NM_001354093.1:c.757G>T, XM_047434679.1:c.757G>T, XM_047434680.1:c.757G>T, XM_047434681.1:c.757G>T, XM_047434668.1:c.796G>T, NM_001354082.1:c.757G>T, NM_001354078.1:c.757G>T, XM_017023704.1:c.757G>T, NP_079222.1:p.Ala253Ser, XP_016879170.1:p.Ala259Ser, NP_001341032.1:p.Ala253Ser, NP_001341031.1:p.Ala253Ser, NP_001341030.1:p.Ala253Ser, NP_001341028.1:p.Ala253Ser, NP_001341029.1:p.Ala253Ser, NP_001341027.1:p.Ala279Ser, NP_001341025.1:p.Ala253Ser, NP_001341021.1:p.Ala253Ser, NP_001341019.1:p.Ala253Ser, NP_001341014.1:p.Ala253Ser, NP_001341017.1:p.Ala253Ser, NP_001341013.1:p.Ala253Ser, NP_001341018.1:p.Ala253Ser, NP_001341020.1:p.Ala253Ser, NP_001341024.1:p.Ala253Ser, NP_001341023.1:p.Ala253Ser, NP_001341010.1:p.Ala253Ser, NP_001341026.1:p.Ala253Ser, NP_001341015.1:p.Ala253Ser, XP_024306222.1:p.Ala253Ser, NP_001341012.1:p.Ala253Ser, XP_016879192.1:p.Ala253Ser, XP_047290629.1:p.Ala259Ser, XP_047290626.1:p.Ala259Ser, XP_047290631.1:p.Ala259Ser, XP_047290627.1:p.Ala259Ser, XP_047290628.1:p.Ala259Ser, XP_047290633.1:p.Ala253Ser, XP_047290625.1:p.Ala259Ser, NP_001341016.1:p.Ala253Ser, NP_001341008.1:p.Ala253Ser, NP_001341009.1:p.Ala253Ser, XP_047290632.1:p.Ala259Ser, XP_047290634.1:p.Ala253Ser, XP_047290635.1:p.Ala253Ser, XP_047290636.1:p.Ala253Ser, XP_047290637.1:p.Ala253Ser, XP_047290624.1:p.Ala266Ser, NP_001341011.1:p.Ala253Ser, NP_001341007.1:p.Ala253Ser, XP_016879193.1:p.Ala253Ser

                                      19.

                                      rs1478553039 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        16:57154259 (GRCh38)
                                        16:57188171 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57154258:G:C
                                        Gene:
                                        PSME3IP1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.57154259G>C, NC_000016.9:g.57188171G>C, NM_024946.4:c.*31C>G, NM_024946.3:c.*31C>G, NM_024946.2:c.*31C>G, XM_017023681.3:c.*31C>G, XM_017023681.2:c.*31C>G, XM_017023681.1:c.*31C>G, NM_001354103.2:c.*31C>G, NM_001354103.1:c.*31C>G, NM_001354102.2:c.*31C>G, NM_001354102.1:c.*31C>G, NM_001354101.2:c.*31C>G, NM_001354101.1:c.*31C>G, NM_001354099.2:c.*31C>G, NM_001354099.1:c.*31C>G, NM_001354100.2:c.*31C>G, NM_001354100.1:c.*31C>G, NM_001354098.2:c.*31C>G, NM_001354098.1:c.*31C>G, NM_001354096.2:c.*31C>G, NM_001354096.1:c.*31C>G, NM_001354092.2:c.*31C>G, NM_001354092.1:c.*31C>G, NM_001354090.2:c.*31C>G, NM_001354090.1:c.*31C>G, NM_001354085.2:c.*31C>G, NM_001354085.1:c.*31C>G, NM_001354088.2:c.*31C>G, NM_001354088.1:c.*31C>G, NM_001354084.2:c.*31C>G, NM_001354084.1:c.*31C>G, NM_001354089.2:c.*31C>G, NM_001354089.1:c.*31C>G, NM_001354091.2:c.*31C>G, NM_001354091.1:c.*31C>G, NM_001354095.2:c.*31C>G, NM_001354095.1:c.*31C>G, NM_001354094.2:c.*31C>G, NM_001354094.1:c.*31C>G, NM_001354081.2:c.*31C>G, NM_001354081.1:c.*31C>G, NM_001354097.2:c.*31C>G, NM_001354097.1:c.*31C>G, NM_001354086.2:c.*31C>G, NM_001354086.1:c.*31C>G, XM_024450454.2:c.*31C>G, XM_024450454.1:c.*31C>G, NM_001354083.2:c.*31C>G, NM_001354083.1:c.*31C>G, XM_017023703.2:c.*31C>G, XM_017023703.1:c.*31C>G, XM_047434673.1:c.*31C>G, XM_047434670.1:c.*31C>G, XM_047434675.1:c.*31C>G, XM_047434671.1:c.*31C>G, XM_047434672.1:c.*31C>G, XM_047434677.1:c.*31C>G, XM_047434669.1:c.*31C>G, NM_001354087.1:c.*31C>G, NM_001354079.1:c.*31C>G, NM_001354080.1:c.*31C>G, XM_047434676.1:c.*31C>G, XM_047434678.1:c.*31C>G, NM_001354093.1:c.*31C>G, XM_047434679.1:c.*31C>G, XM_047434680.1:c.*31C>G, XM_047434681.1:c.*31C>G, XM_047434668.1:c.*31C>G, NM_001354082.1:c.*31C>G, NM_001354078.1:c.*31C>G, XM_017023704.1:c.*31C>G

                                        20.

                                        rs1477363332 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ATCT>- [Show Flanks]
                                          Chromosome:
                                          16:57153124 (GRCh38)
                                          16:57187036 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57153120:TCTATCT:TCT
                                          Gene:
                                          PSME3IP1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TCT=0./0 (ALFA)
                                          -=0.000021/3 (GnomAD)
                                          -=0.000038/10 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.57153124_57153127del, NC_000016.9:g.57187036_57187039del, NM_024946.4:c.*1166_*1169del, NM_024946.3:c.*1166_*1169del, NM_024946.2:c.*1166_*1169del, XM_017023681.3:c.*1166_*1169del, XM_017023681.2:c.*1166_*1169del, XM_017023681.1:c.*1166_*1169del, NM_001354103.2:c.*1166_*1169del, NM_001354103.1:c.*1166_*1169del, NM_001354102.2:c.*1166_*1169del, NM_001354102.1:c.*1166_*1169del, NM_001354101.2:c.*1166_*1169del, NM_001354101.1:c.*1166_*1169del, NM_001354099.2:c.*1166_*1169del, NM_001354099.1:c.*1166_*1169del, NM_001354100.2:c.*1166_*1169del, NM_001354100.1:c.*1166_*1169del, NM_001354098.2:c.*1166_*1169del, NM_001354098.1:c.*1166_*1169del, NM_001354096.2:c.*1166_*1169del, NM_001354096.1:c.*1166_*1169del, NM_001354092.2:c.*1166_*1169del, NM_001354092.1:c.*1166_*1169del, NM_001354090.2:c.*1166_*1169del, NM_001354090.1:c.*1166_*1169del, NM_001354085.2:c.*1166_*1169del, NM_001354085.1:c.*1166_*1169del, NM_001354088.2:c.*1166_*1169del, NM_001354088.1:c.*1166_*1169del, NM_001354084.2:c.*1166_*1169del, NM_001354084.1:c.*1166_*1169del, NM_001354089.2:c.*1166_*1169del, NM_001354089.1:c.*1166_*1169del, NM_001354091.2:c.*1166_*1169del, NM_001354091.1:c.*1166_*1169del, NM_001354095.2:c.*1166_*1169del, NM_001354095.1:c.*1166_*1169del, NM_001354094.2:c.*1166_*1169del, NM_001354094.1:c.*1166_*1169del, NM_001354081.2:c.*1166_*1169del, NM_001354081.1:c.*1166_*1169del, NM_001354097.2:c.*1166_*1169del, NM_001354097.1:c.*1166_*1169del, NM_001354086.2:c.*1166_*1169del, NM_001354086.1:c.*1166_*1169del, XM_024450454.2:c.*1166_*1169del, XM_024450454.1:c.*1166_*1169del, NM_001354083.2:c.*1166_*1169del, NM_001354083.1:c.*1166_*1169del, XM_017023703.2:c.*1166_*1169del, XM_017023703.1:c.*1166_*1169del, XM_047434673.1:c.*1166_*1169del, XM_047434670.1:c.*1166_*1169del, XM_047434675.1:c.*1166_*1169del, XM_047434671.1:c.*1166_*1169del, XM_047434672.1:c.*1166_*1169del, XM_047434677.1:c.*1166_*1169del, XM_047434669.1:c.*1166_*1169del, NM_001354087.1:c.*1166_*1169del, NM_001354079.1:c.*1166_*1169del, NM_001354080.1:c.*1166_*1169del, XM_047434676.1:c.*1166_*1169del, XM_047434678.1:c.*1166_*1169del, NM_001354093.1:c.*1166_*1169del, XM_047434679.1:c.*1166_*1169del, XM_047434680.1:c.*1166_*1169del, XM_047434681.1:c.*1166_*1169del, XM_047434668.1:c.*1166_*1169del, NM_001354082.1:c.*1166_*1169del, NM_001354078.1:c.*1166_*1169del, XM_017023704.1:c.*1166_*1169del

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