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Items: 1 to 20 of 219

1.

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

    2.

    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

      3.

      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

        4.

        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

          5.

          rs1476550709 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:57154351 (GRCh38)
            16:57188263 (GRCh37)
            Canonical SPDI:
            NC_000016.10:57154350:T:C
            Gene:
            PSME3IP1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000016.10:g.57154351T>C, NC_000016.9:g.57188263T>C, NM_024946.4:c.704A>G, NM_024946.3:c.704A>G, NM_024946.2:c.704A>G, XM_017023681.3:c.722A>G, XM_017023681.2:c.722A>G, XM_017023681.1:c.722A>G, NM_001354103.2:c.704A>G, NM_001354103.1:c.704A>G, NM_001354102.2:c.704A>G, NM_001354102.1:c.704A>G, NM_001354101.2:c.704A>G, NM_001354101.1:c.704A>G, NM_001354099.2:c.704A>G, NM_001354099.1:c.704A>G, NM_001354100.2:c.704A>G, NM_001354100.1:c.704A>G, NM_001354098.2:c.782A>G, NM_001354098.1:c.782A>G, NM_001354096.2:c.704A>G, NM_001354096.1:c.704A>G, NM_001354092.2:c.704A>G, NM_001354092.1:c.704A>G, NM_001354090.2:c.704A>G, NM_001354090.1:c.704A>G, NM_001354085.2:c.704A>G, NM_001354085.1:c.704A>G, NM_001354088.2:c.704A>G, NM_001354088.1:c.704A>G, NM_001354084.2:c.704A>G, NM_001354084.1:c.704A>G, NM_001354089.2:c.704A>G, NM_001354089.1:c.704A>G, NM_001354091.2:c.704A>G, NM_001354091.1:c.704A>G, NM_001354095.2:c.704A>G, NM_001354095.1:c.704A>G, NM_001354094.2:c.704A>G, NM_001354094.1:c.704A>G, NM_001354081.2:c.704A>G, NM_001354081.1:c.704A>G, NM_001354097.2:c.704A>G, NM_001354097.1:c.704A>G, NM_001354086.2:c.704A>G, NM_001354086.1:c.704A>G, XM_024450454.2:c.704A>G, XM_024450454.1:c.704A>G, NM_001354083.2:c.704A>G, NM_001354083.1:c.704A>G, XM_017023703.2:c.704A>G, XM_017023703.1:c.704A>G, XM_047434673.1:c.722A>G, XM_047434670.1:c.722A>G, XM_047434675.1:c.722A>G, XM_047434671.1:c.722A>G, XM_047434672.1:c.722A>G, XM_047434677.1:c.704A>G, XM_047434669.1:c.722A>G, NM_001354087.1:c.704A>G, NM_001354079.1:c.704A>G, NM_001354080.1:c.704A>G, XM_047434676.1:c.722A>G, XM_047434678.1:c.704A>G, NM_001354093.1:c.704A>G, XM_047434679.1:c.704A>G, XM_047434680.1:c.704A>G, XM_047434681.1:c.704A>G, XM_047434668.1:c.743A>G, NM_001354082.1:c.704A>G, NM_001354078.1:c.704A>G, XM_017023704.1:c.704A>G, NP_079222.1:p.Asn235Ser, XP_016879170.1:p.Asn241Ser, NP_001341032.1:p.Asn235Ser, NP_001341031.1:p.Asn235Ser, NP_001341030.1:p.Asn235Ser, NP_001341028.1:p.Asn235Ser, NP_001341029.1:p.Asn235Ser, NP_001341027.1:p.Asn261Ser, NP_001341025.1:p.Asn235Ser, NP_001341021.1:p.Asn235Ser, NP_001341019.1:p.Asn235Ser, NP_001341014.1:p.Asn235Ser, NP_001341017.1:p.Asn235Ser, NP_001341013.1:p.Asn235Ser, NP_001341018.1:p.Asn235Ser, NP_001341020.1:p.Asn235Ser, NP_001341024.1:p.Asn235Ser, NP_001341023.1:p.Asn235Ser, NP_001341010.1:p.Asn235Ser, NP_001341026.1:p.Asn235Ser, NP_001341015.1:p.Asn235Ser, XP_024306222.1:p.Asn235Ser, NP_001341012.1:p.Asn235Ser, XP_016879192.1:p.Asn235Ser, XP_047290629.1:p.Asn241Ser, XP_047290626.1:p.Asn241Ser, XP_047290631.1:p.Asn241Ser, XP_047290627.1:p.Asn241Ser, XP_047290628.1:p.Asn241Ser, XP_047290633.1:p.Asn235Ser, XP_047290625.1:p.Asn241Ser, NP_001341016.1:p.Asn235Ser, NP_001341008.1:p.Asn235Ser, NP_001341009.1:p.Asn235Ser, XP_047290632.1:p.Asn241Ser, XP_047290634.1:p.Asn235Ser, XP_047290635.1:p.Asn235Ser, XP_047290636.1:p.Asn235Ser, XP_047290637.1:p.Asn235Ser, XP_047290624.1:p.Asn248Ser, NP_001341011.1:p.Asn235Ser, NP_001341007.1:p.Asn235Ser, XP_016879193.1:p.Asn235Ser

            6.

            rs1475901642 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              16:57172835 (GRCh38)
              16:57206747 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57172834:T:C
              Gene:
              PSME3IP1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000016.10:g.57172835T>C, NC_000016.9:g.57206747T>C, NM_024946.4:c.167A>G, NM_024946.3:c.167A>G, NM_024946.2:c.167A>G, XM_017023681.3:c.185A>G, XM_017023681.2:c.185A>G, XM_017023681.1:c.185A>G, NM_001354103.2:c.167A>G, NM_001354103.1:c.167A>G, NM_001354102.2:c.167A>G, NM_001354102.1:c.167A>G, NM_001354101.2:c.167A>G, NM_001354101.1:c.167A>G, NM_001354099.2:c.167A>G, NM_001354099.1:c.167A>G, NM_001354100.2:c.167A>G, NM_001354100.1:c.167A>G, NM_001354098.2:c.245A>G, NM_001354098.1:c.245A>G, NM_001354096.2:c.167A>G, NM_001354096.1:c.167A>G, NM_001354092.2:c.167A>G, NM_001354092.1:c.167A>G, NM_001354090.2:c.167A>G, NM_001354090.1:c.167A>G, NM_001354085.2:c.167A>G, NM_001354085.1:c.167A>G, NM_001354088.2:c.167A>G, NM_001354088.1:c.167A>G, NM_001354084.2:c.167A>G, NM_001354084.1:c.167A>G, NM_001354089.2:c.167A>G, NM_001354089.1:c.167A>G, NM_001354091.2:c.167A>G, NM_001354091.1:c.167A>G, NM_001354095.2:c.167A>G, NM_001354095.1:c.167A>G, NM_001354094.2:c.167A>G, NM_001354094.1:c.167A>G, NM_001354081.2:c.167A>G, NM_001354081.1:c.167A>G, NM_001354097.2:c.167A>G, NM_001354097.1:c.167A>G, NM_001354086.2:c.167A>G, NM_001354086.1:c.167A>G, XM_024450454.2:c.167A>G, XM_024450454.1:c.167A>G, NM_001354083.2:c.167A>G, NM_001354083.1:c.167A>G, XM_017023703.2:c.167A>G, XM_017023703.1:c.167A>G, XM_047434673.1:c.185A>G, XM_047434670.1:c.185A>G, XM_047434675.1:c.185A>G, XM_047434671.1:c.185A>G, XM_047434672.1:c.185A>G, XM_047434677.1:c.167A>G, XM_047434669.1:c.185A>G, NM_001354087.1:c.167A>G, NM_001354079.1:c.167A>G, NM_001354080.1:c.167A>G, XM_047434676.1:c.185A>G, XM_047434678.1:c.167A>G, NM_001354093.1:c.167A>G, XM_047434679.1:c.167A>G, XM_047434680.1:c.167A>G, XM_047434681.1:c.167A>G, XM_047434668.1:c.206A>G, NM_001354082.1:c.167A>G, NM_001354078.1:c.167A>G, XM_017023704.1:c.167A>G, NP_079222.1:p.Glu56Gly, XP_016879170.1:p.Glu62Gly, NP_001341032.1:p.Glu56Gly, NP_001341031.1:p.Glu56Gly, NP_001341030.1:p.Glu56Gly, NP_001341028.1:p.Glu56Gly, NP_001341029.1:p.Glu56Gly, NP_001341027.1:p.Glu82Gly, NP_001341025.1:p.Glu56Gly, NP_001341021.1:p.Glu56Gly, NP_001341019.1:p.Glu56Gly, NP_001341014.1:p.Glu56Gly, NP_001341017.1:p.Glu56Gly, NP_001341013.1:p.Glu56Gly, NP_001341018.1:p.Glu56Gly, NP_001341020.1:p.Glu56Gly, NP_001341024.1:p.Glu56Gly, NP_001341023.1:p.Glu56Gly, NP_001341010.1:p.Glu56Gly, NP_001341026.1:p.Glu56Gly, NP_001341015.1:p.Glu56Gly, XP_024306222.1:p.Glu56Gly, NP_001341012.1:p.Glu56Gly, XP_016879192.1:p.Glu56Gly, XP_047290629.1:p.Glu62Gly, XP_047290626.1:p.Glu62Gly, XP_047290631.1:p.Glu62Gly, XP_047290627.1:p.Glu62Gly, XP_047290628.1:p.Glu62Gly, XP_047290633.1:p.Glu56Gly, XP_047290625.1:p.Glu62Gly, NP_001341016.1:p.Glu56Gly, NP_001341008.1:p.Glu56Gly, NP_001341009.1:p.Glu56Gly, XP_047290632.1:p.Glu62Gly, XP_047290634.1:p.Glu56Gly, XP_047290635.1:p.Glu56Gly, XP_047290636.1:p.Glu56Gly, XP_047290637.1:p.Glu56Gly, XP_047290624.1:p.Glu69Gly, NP_001341011.1:p.Glu56Gly, NP_001341007.1:p.Glu56Gly, XP_016879193.1:p.Glu56Gly

              7.

              rs1473808420 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:57167165 (GRCh38)
                16:57201077 (GRCh37)
                Canonical SPDI:
                NC_000016.10:57167164:G:A
                Gene:
                PSME3IP1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.57167165G>A, NC_000016.9:g.57201077G>A, NM_024946.4:c.410C>T, NM_024946.3:c.410C>T, NM_024946.2:c.410C>T, XM_017023681.3:c.428C>T, XM_017023681.2:c.428C>T, XM_017023681.1:c.428C>T, NM_001354103.2:c.410C>T, NM_001354103.1:c.410C>T, NM_001354102.2:c.410C>T, NM_001354102.1:c.410C>T, NM_001354101.2:c.410C>T, NM_001354101.1:c.410C>T, NM_001354099.2:c.410C>T, NM_001354099.1:c.410C>T, NM_001354100.2:c.410C>T, NM_001354100.1:c.410C>T, NM_001354098.2:c.488C>T, NM_001354098.1:c.488C>T, NM_001354096.2:c.410C>T, NM_001354096.1:c.410C>T, NM_001354092.2:c.410C>T, NM_001354092.1:c.410C>T, NM_001354090.2:c.410C>T, NM_001354090.1:c.410C>T, NM_001354085.2:c.410C>T, NM_001354085.1:c.410C>T, NM_001354088.2:c.410C>T, NM_001354088.1:c.410C>T, NM_001354084.2:c.410C>T, NM_001354084.1:c.410C>T, NM_001354089.2:c.410C>T, NM_001354089.1:c.410C>T, NM_001354091.2:c.410C>T, NM_001354091.1:c.410C>T, NM_001354095.2:c.410C>T, NM_001354095.1:c.410C>T, NM_001354094.2:c.410C>T, NM_001354094.1:c.410C>T, NM_001354081.2:c.410C>T, NM_001354081.1:c.410C>T, NM_001354097.2:c.410C>T, NM_001354097.1:c.410C>T, NM_001354086.2:c.410C>T, NM_001354086.1:c.410C>T, XM_024450454.2:c.410C>T, XM_024450454.1:c.410C>T, NM_001354083.2:c.410C>T, NM_001354083.1:c.410C>T, XM_017023703.2:c.410C>T, XM_017023703.1:c.410C>T, XM_047434673.1:c.428C>T, XM_047434670.1:c.428C>T, XM_047434675.1:c.428C>T, XM_047434671.1:c.428C>T, XM_047434672.1:c.428C>T, XM_047434677.1:c.410C>T, XM_047434669.1:c.428C>T, NM_001354087.1:c.410C>T, NM_001354079.1:c.410C>T, NM_001354080.1:c.410C>T, XM_047434676.1:c.428C>T, XM_047434678.1:c.410C>T, NM_001354093.1:c.410C>T, XM_047434679.1:c.410C>T, XM_047434680.1:c.410C>T, XM_047434681.1:c.410C>T, XM_047434668.1:c.449C>T, NM_001354082.1:c.410C>T, NM_001354078.1:c.410C>T, XM_017023704.1:c.410C>T, NP_079222.1:p.Thr137Ile, XP_016879170.1:p.Thr143Ile, NP_001341032.1:p.Thr137Ile, NP_001341031.1:p.Thr137Ile, NP_001341030.1:p.Thr137Ile, NP_001341028.1:p.Thr137Ile, NP_001341029.1:p.Thr137Ile, NP_001341027.1:p.Thr163Ile, NP_001341025.1:p.Thr137Ile, NP_001341021.1:p.Thr137Ile, NP_001341019.1:p.Thr137Ile, NP_001341014.1:p.Thr137Ile, NP_001341017.1:p.Thr137Ile, NP_001341013.1:p.Thr137Ile, NP_001341018.1:p.Thr137Ile, NP_001341020.1:p.Thr137Ile, NP_001341024.1:p.Thr137Ile, NP_001341023.1:p.Thr137Ile, NP_001341010.1:p.Thr137Ile, NP_001341026.1:p.Thr137Ile, NP_001341015.1:p.Thr137Ile, XP_024306222.1:p.Thr137Ile, NP_001341012.1:p.Thr137Ile, XP_016879192.1:p.Thr137Ile, XP_047290629.1:p.Thr143Ile, XP_047290626.1:p.Thr143Ile, XP_047290631.1:p.Thr143Ile, XP_047290627.1:p.Thr143Ile, XP_047290628.1:p.Thr143Ile, XP_047290633.1:p.Thr137Ile, XP_047290625.1:p.Thr143Ile, NP_001341016.1:p.Thr137Ile, NP_001341008.1:p.Thr137Ile, NP_001341009.1:p.Thr137Ile, XP_047290632.1:p.Thr143Ile, XP_047290634.1:p.Thr137Ile, XP_047290635.1:p.Thr137Ile, XP_047290636.1:p.Thr137Ile, XP_047290637.1:p.Thr137Ile, XP_047290624.1:p.Thr150Ile, NP_001341011.1:p.Thr137Ile, NP_001341007.1:p.Thr137Ile, XP_016879193.1:p.Thr137Ile

                8.

                rs1469640551 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:57173770 (GRCh38)
                  16:57207682 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:57173769:G:A
                  Gene:
                  PSME3IP1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,stop_gained
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.57173770G>A, NC_000016.9:g.57207682G>A, NM_024946.4:c.85C>T, NM_024946.3:c.85C>T, NM_024946.2:c.85C>T, XM_017023681.3:c.103C>T, XM_017023681.2:c.103C>T, XM_017023681.1:c.103C>T, NM_001354103.2:c.85C>T, NM_001354103.1:c.85C>T, NM_001354102.2:c.85C>T, NM_001354102.1:c.85C>T, NM_001354101.2:c.85C>T, NM_001354101.1:c.85C>T, NM_001354099.2:c.85C>T, NM_001354099.1:c.85C>T, NM_001354100.2:c.85C>T, NM_001354100.1:c.85C>T, NM_001354098.2:c.163C>T, NM_001354098.1:c.163C>T, NM_001354096.2:c.85C>T, NM_001354096.1:c.85C>T, NM_001354092.2:c.85C>T, NM_001354092.1:c.85C>T, NM_001354090.2:c.85C>T, NM_001354090.1:c.85C>T, NM_001354085.2:c.85C>T, NM_001354085.1:c.85C>T, NM_001354088.2:c.85C>T, NM_001354088.1:c.85C>T, NM_001354084.2:c.85C>T, NM_001354084.1:c.85C>T, NM_001354089.2:c.85C>T, NM_001354089.1:c.85C>T, NM_001354091.2:c.85C>T, NM_001354091.1:c.85C>T, NM_001354095.2:c.85C>T, NM_001354095.1:c.85C>T, NM_001354094.2:c.85C>T, NM_001354094.1:c.85C>T, NM_001354081.2:c.85C>T, NM_001354081.1:c.85C>T, NM_001354097.2:c.85C>T, NM_001354097.1:c.85C>T, NM_001354086.2:c.85C>T, NM_001354086.1:c.85C>T, XM_024450454.2:c.85C>T, XM_024450454.1:c.85C>T, NM_001354083.2:c.85C>T, NM_001354083.1:c.85C>T, XM_017023703.2:c.85C>T, XM_017023703.1:c.85C>T, XM_047434673.1:c.103C>T, XM_047434670.1:c.103C>T, XM_047434675.1:c.103C>T, XM_047434671.1:c.103C>T, XM_047434672.1:c.103C>T, XM_047434677.1:c.85C>T, XM_047434669.1:c.103C>T, NM_001354087.1:c.85C>T, NM_001354079.1:c.85C>T, NM_001354080.1:c.85C>T, XM_047434676.1:c.103C>T, XM_047434678.1:c.85C>T, NM_001354093.1:c.85C>T, XM_047434679.1:c.85C>T, XM_047434680.1:c.85C>T, XM_047434681.1:c.85C>T, XM_047434668.1:c.124C>T, NM_001354082.1:c.85C>T, NM_001354078.1:c.85C>T, XM_017023704.1:c.85C>T, NP_079222.1:p.Gln29Ter, XP_016879170.1:p.Gln35Ter, NP_001341032.1:p.Gln29Ter, NP_001341031.1:p.Gln29Ter, NP_001341030.1:p.Gln29Ter, NP_001341028.1:p.Gln29Ter, NP_001341029.1:p.Gln29Ter, NP_001341027.1:p.Gln55Ter, NP_001341025.1:p.Gln29Ter, NP_001341021.1:p.Gln29Ter, NP_001341019.1:p.Gln29Ter, NP_001341014.1:p.Gln29Ter, NP_001341017.1:p.Gln29Ter, NP_001341013.1:p.Gln29Ter, NP_001341018.1:p.Gln29Ter, NP_001341020.1:p.Gln29Ter, NP_001341024.1:p.Gln29Ter, NP_001341023.1:p.Gln29Ter, NP_001341010.1:p.Gln29Ter, NP_001341026.1:p.Gln29Ter, NP_001341015.1:p.Gln29Ter, XP_024306222.1:p.Gln29Ter, NP_001341012.1:p.Gln29Ter, XP_016879192.1:p.Gln29Ter, XP_047290629.1:p.Gln35Ter, XP_047290626.1:p.Gln35Ter, XP_047290631.1:p.Gln35Ter, XP_047290627.1:p.Gln35Ter, XP_047290628.1:p.Gln35Ter, XP_047290633.1:p.Gln29Ter, XP_047290625.1:p.Gln35Ter, NP_001341016.1:p.Gln29Ter, NP_001341008.1:p.Gln29Ter, NP_001341009.1:p.Gln29Ter, XP_047290632.1:p.Gln35Ter, XP_047290634.1:p.Gln29Ter, XP_047290635.1:p.Gln29Ter, XP_047290636.1:p.Gln29Ter, XP_047290637.1:p.Gln29Ter, XP_047290624.1:p.Gln42Ter, NP_001341011.1:p.Gln29Ter, NP_001341007.1:p.Gln29Ter, XP_016879193.1:p.Gln29Ter

                  9.

                  rs1467325545 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:57154462 (GRCh38)
                    16:57188374 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57154461:G:A
                    Gene:
                    PSME3IP1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000016.10:g.57154462G>A, NC_000016.9:g.57188374G>A, NM_024946.4:c.593C>T, NM_024946.3:c.593C>T, NM_024946.2:c.593C>T, XM_017023681.3:c.611C>T, XM_017023681.2:c.611C>T, XM_017023681.1:c.611C>T, NM_001354103.2:c.593C>T, NM_001354103.1:c.593C>T, NM_001354102.2:c.593C>T, NM_001354102.1:c.593C>T, NM_001354101.2:c.593C>T, NM_001354101.1:c.593C>T, NM_001354099.2:c.593C>T, NM_001354099.1:c.593C>T, NM_001354100.2:c.593C>T, NM_001354100.1:c.593C>T, NM_001354098.2:c.671C>T, NM_001354098.1:c.671C>T, NM_001354096.2:c.593C>T, NM_001354096.1:c.593C>T, NM_001354092.2:c.593C>T, NM_001354092.1:c.593C>T, NM_001354090.2:c.593C>T, NM_001354090.1:c.593C>T, NM_001354085.2:c.593C>T, NM_001354085.1:c.593C>T, NM_001354088.2:c.593C>T, NM_001354088.1:c.593C>T, NM_001354084.2:c.593C>T, NM_001354084.1:c.593C>T, NM_001354089.2:c.593C>T, NM_001354089.1:c.593C>T, NM_001354091.2:c.593C>T, NM_001354091.1:c.593C>T, NM_001354095.2:c.593C>T, NM_001354095.1:c.593C>T, NM_001354094.2:c.593C>T, NM_001354094.1:c.593C>T, NM_001354081.2:c.593C>T, NM_001354081.1:c.593C>T, NM_001354097.2:c.593C>T, NM_001354097.1:c.593C>T, NM_001354086.2:c.593C>T, NM_001354086.1:c.593C>T, XM_024450454.2:c.593C>T, XM_024450454.1:c.593C>T, NM_001354083.2:c.593C>T, NM_001354083.1:c.593C>T, XM_017023703.2:c.593C>T, XM_017023703.1:c.593C>T, XM_047434673.1:c.611C>T, XM_047434670.1:c.611C>T, XM_047434675.1:c.611C>T, XM_047434671.1:c.611C>T, XM_047434672.1:c.611C>T, XM_047434677.1:c.593C>T, XM_047434669.1:c.611C>T, NM_001354087.1:c.593C>T, NM_001354079.1:c.593C>T, NM_001354080.1:c.593C>T, XM_047434676.1:c.611C>T, XM_047434678.1:c.593C>T, NM_001354093.1:c.593C>T, XM_047434679.1:c.593C>T, XM_047434680.1:c.593C>T, XM_047434681.1:c.593C>T, XM_047434668.1:c.632C>T, NM_001354082.1:c.593C>T, NM_001354078.1:c.593C>T, XM_017023704.1:c.593C>T, NP_079222.1:p.Pro198Leu, XP_016879170.1:p.Pro204Leu, NP_001341032.1:p.Pro198Leu, NP_001341031.1:p.Pro198Leu, NP_001341030.1:p.Pro198Leu, NP_001341028.1:p.Pro198Leu, NP_001341029.1:p.Pro198Leu, NP_001341027.1:p.Pro224Leu, NP_001341025.1:p.Pro198Leu, NP_001341021.1:p.Pro198Leu, NP_001341019.1:p.Pro198Leu, NP_001341014.1:p.Pro198Leu, NP_001341017.1:p.Pro198Leu, NP_001341013.1:p.Pro198Leu, NP_001341018.1:p.Pro198Leu, NP_001341020.1:p.Pro198Leu, NP_001341024.1:p.Pro198Leu, NP_001341023.1:p.Pro198Leu, NP_001341010.1:p.Pro198Leu, NP_001341026.1:p.Pro198Leu, NP_001341015.1:p.Pro198Leu, XP_024306222.1:p.Pro198Leu, NP_001341012.1:p.Pro198Leu, XP_016879192.1:p.Pro198Leu, XP_047290629.1:p.Pro204Leu, XP_047290626.1:p.Pro204Leu, XP_047290631.1:p.Pro204Leu, XP_047290627.1:p.Pro204Leu, XP_047290628.1:p.Pro204Leu, XP_047290633.1:p.Pro198Leu, XP_047290625.1:p.Pro204Leu, NP_001341016.1:p.Pro198Leu, NP_001341008.1:p.Pro198Leu, NP_001341009.1:p.Pro198Leu, XP_047290632.1:p.Pro204Leu, XP_047290634.1:p.Pro198Leu, XP_047290635.1:p.Pro198Leu, XP_047290636.1:p.Pro198Leu, XP_047290637.1:p.Pro198Leu, XP_047290624.1:p.Pro211Leu, NP_001341011.1:p.Pro198Leu, NP_001341007.1:p.Pro198Leu, XP_016879193.1:p.Pro198Leu

                    10.

                    rs1466217467 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      16:57164004 (GRCh38)
                      16:57197916 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57164003:G:T
                      Gene:
                      PSME3IP1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000016.10:g.57164004G>T, NC_000016.9:g.57197916G>T, NM_024946.4:c.544C>A, NM_024946.3:c.544C>A, NM_024946.2:c.544C>A, XM_017023681.3:c.562C>A, XM_017023681.2:c.562C>A, XM_017023681.1:c.562C>A, NM_001354103.2:c.544C>A, NM_001354103.1:c.544C>A, NM_001354102.2:c.544C>A, NM_001354102.1:c.544C>A, NM_001354101.2:c.544C>A, NM_001354101.1:c.544C>A, NM_001354099.2:c.544C>A, NM_001354099.1:c.544C>A, NM_001354100.2:c.544C>A, NM_001354100.1:c.544C>A, NM_001354098.2:c.622C>A, NM_001354098.1:c.622C>A, NM_001354096.2:c.544C>A, NM_001354096.1:c.544C>A, NM_001354092.2:c.544C>A, NM_001354092.1:c.544C>A, NM_001354090.2:c.544C>A, NM_001354090.1:c.544C>A, NM_001354085.2:c.544C>A, NM_001354085.1:c.544C>A, NM_001354088.2:c.544C>A, NM_001354088.1:c.544C>A, NM_001354084.2:c.544C>A, NM_001354084.1:c.544C>A, NM_001354089.2:c.544C>A, NM_001354089.1:c.544C>A, NM_001354091.2:c.544C>A, NM_001354091.1:c.544C>A, NM_001354095.2:c.544C>A, NM_001354095.1:c.544C>A, NM_001354094.2:c.544C>A, NM_001354094.1:c.544C>A, NM_001354081.2:c.544C>A, NM_001354081.1:c.544C>A, NM_001354097.2:c.544C>A, NM_001354097.1:c.544C>A, NM_001354086.2:c.544C>A, NM_001354086.1:c.544C>A, XM_024450454.2:c.544C>A, XM_024450454.1:c.544C>A, NM_001354083.2:c.544C>A, NM_001354083.1:c.544C>A, XM_017023703.2:c.544C>A, XM_017023703.1:c.544C>A, XM_047434673.1:c.562C>A, XM_047434670.1:c.562C>A, XM_047434675.1:c.562C>A, XM_047434671.1:c.562C>A, XM_047434672.1:c.562C>A, XM_047434677.1:c.544C>A, XM_047434669.1:c.562C>A, NM_001354087.1:c.544C>A, NM_001354079.1:c.544C>A, NM_001354080.1:c.544C>A, XM_047434676.1:c.562C>A, XM_047434678.1:c.544C>A, NM_001354093.1:c.544C>A, XM_047434679.1:c.544C>A, XM_047434680.1:c.544C>A, XM_047434681.1:c.544C>A, XM_047434668.1:c.583C>A, NM_001354082.1:c.544C>A, NM_001354078.1:c.544C>A, XM_017023704.1:c.544C>A, NP_079222.1:p.Gln182Lys, XP_016879170.1:p.Gln188Lys, NP_001341032.1:p.Gln182Lys, NP_001341031.1:p.Gln182Lys, NP_001341030.1:p.Gln182Lys, NP_001341028.1:p.Gln182Lys, NP_001341029.1:p.Gln182Lys, NP_001341027.1:p.Gln208Lys, NP_001341025.1:p.Gln182Lys, NP_001341021.1:p.Gln182Lys, NP_001341019.1:p.Gln182Lys, NP_001341014.1:p.Gln182Lys, NP_001341017.1:p.Gln182Lys, NP_001341013.1:p.Gln182Lys, NP_001341018.1:p.Gln182Lys, NP_001341020.1:p.Gln182Lys, NP_001341024.1:p.Gln182Lys, NP_001341023.1:p.Gln182Lys, NP_001341010.1:p.Gln182Lys, NP_001341026.1:p.Gln182Lys, NP_001341015.1:p.Gln182Lys, XP_024306222.1:p.Gln182Lys, NP_001341012.1:p.Gln182Lys, XP_016879192.1:p.Gln182Lys, XP_047290629.1:p.Gln188Lys, XP_047290626.1:p.Gln188Lys, XP_047290631.1:p.Gln188Lys, XP_047290627.1:p.Gln188Lys, XP_047290628.1:p.Gln188Lys, XP_047290633.1:p.Gln182Lys, XP_047290625.1:p.Gln188Lys, NP_001341016.1:p.Gln182Lys, NP_001341008.1:p.Gln182Lys, NP_001341009.1:p.Gln182Lys, XP_047290632.1:p.Gln188Lys, XP_047290634.1:p.Gln182Lys, XP_047290635.1:p.Gln182Lys, XP_047290636.1:p.Gln182Lys, XP_047290637.1:p.Gln182Lys, XP_047290624.1:p.Gln195Lys, NP_001341011.1:p.Gln182Lys, NP_001341007.1:p.Gln182Lys, XP_016879193.1:p.Gln182Lys

                      11.

                      rs1465818955 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:57172301 (GRCh38)
                        16:57206213 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57172300:T:C
                        Gene:
                        PSME3IP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000016.10:g.57172301T>C, NC_000016.9:g.57206213T>C, NM_024946.4:c.298A>G, NM_024946.3:c.298A>G, NM_024946.2:c.298A>G, XM_017023681.3:c.316A>G, XM_017023681.2:c.316A>G, XM_017023681.1:c.316A>G, NM_001354103.2:c.298A>G, NM_001354103.1:c.298A>G, NM_001354102.2:c.298A>G, NM_001354102.1:c.298A>G, NM_001354101.2:c.298A>G, NM_001354101.1:c.298A>G, NM_001354099.2:c.298A>G, NM_001354099.1:c.298A>G, NM_001354100.2:c.298A>G, NM_001354100.1:c.298A>G, NM_001354098.2:c.376A>G, NM_001354098.1:c.376A>G, NM_001354096.2:c.298A>G, NM_001354096.1:c.298A>G, NM_001354092.2:c.298A>G, NM_001354092.1:c.298A>G, NM_001354090.2:c.298A>G, NM_001354090.1:c.298A>G, NM_001354085.2:c.298A>G, NM_001354085.1:c.298A>G, NM_001354088.2:c.298A>G, NM_001354088.1:c.298A>G, NM_001354084.2:c.298A>G, NM_001354084.1:c.298A>G, NM_001354089.2:c.298A>G, NM_001354089.1:c.298A>G, NM_001354091.2:c.298A>G, NM_001354091.1:c.298A>G, NM_001354095.2:c.298A>G, NM_001354095.1:c.298A>G, NM_001354094.2:c.298A>G, NM_001354094.1:c.298A>G, NM_001354081.2:c.298A>G, NM_001354081.1:c.298A>G, NM_001354097.2:c.298A>G, NM_001354097.1:c.298A>G, NM_001354086.2:c.298A>G, NM_001354086.1:c.298A>G, XM_024450454.2:c.298A>G, XM_024450454.1:c.298A>G, NM_001354083.2:c.298A>G, NM_001354083.1:c.298A>G, XM_017023703.2:c.298A>G, XM_017023703.1:c.298A>G, XM_047434673.1:c.316A>G, XM_047434670.1:c.316A>G, XM_047434675.1:c.316A>G, XM_047434671.1:c.316A>G, XM_047434672.1:c.316A>G, XM_047434677.1:c.298A>G, XM_047434669.1:c.316A>G, NM_001354087.1:c.298A>G, NM_001354079.1:c.298A>G, NM_001354080.1:c.298A>G, XM_047434676.1:c.316A>G, XM_047434678.1:c.298A>G, NM_001354093.1:c.298A>G, XM_047434679.1:c.298A>G, XM_047434680.1:c.298A>G, XM_047434681.1:c.298A>G, XM_047434668.1:c.337A>G, NM_001354082.1:c.298A>G, NM_001354078.1:c.298A>G, XM_017023704.1:c.298A>G, NP_079222.1:p.Ile100Val, XP_016879170.1:p.Ile106Val, NP_001341032.1:p.Ile100Val, NP_001341031.1:p.Ile100Val, NP_001341030.1:p.Ile100Val, NP_001341028.1:p.Ile100Val, NP_001341029.1:p.Ile100Val, NP_001341027.1:p.Ile126Val, NP_001341025.1:p.Ile100Val, NP_001341021.1:p.Ile100Val, NP_001341019.1:p.Ile100Val, NP_001341014.1:p.Ile100Val, NP_001341017.1:p.Ile100Val, NP_001341013.1:p.Ile100Val, NP_001341018.1:p.Ile100Val, NP_001341020.1:p.Ile100Val, NP_001341024.1:p.Ile100Val, NP_001341023.1:p.Ile100Val, NP_001341010.1:p.Ile100Val, NP_001341026.1:p.Ile100Val, NP_001341015.1:p.Ile100Val, XP_024306222.1:p.Ile100Val, NP_001341012.1:p.Ile100Val, XP_016879192.1:p.Ile100Val, XP_047290629.1:p.Ile106Val, XP_047290626.1:p.Ile106Val, XP_047290631.1:p.Ile106Val, XP_047290627.1:p.Ile106Val, XP_047290628.1:p.Ile106Val, XP_047290633.1:p.Ile100Val, XP_047290625.1:p.Ile106Val, NP_001341016.1:p.Ile100Val, NP_001341008.1:p.Ile100Val, NP_001341009.1:p.Ile100Val, XP_047290632.1:p.Ile106Val, XP_047290634.1:p.Ile100Val, XP_047290635.1:p.Ile100Val, XP_047290636.1:p.Ile100Val, XP_047290637.1:p.Ile100Val, XP_047290624.1:p.Ile113Val, NP_001341011.1:p.Ile100Val, NP_001341007.1:p.Ile100Val, XP_016879193.1:p.Ile100Val

                        12.

                        rs1463346821 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:57173801 (GRCh38)
                          16:57207713 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57173800:C:T
                          Gene:
                          PSME3IP1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000016.10:g.57173801C>T, NC_000016.9:g.57207713C>T, NM_024946.4:c.54G>A, NM_024946.3:c.54G>A, NM_024946.2:c.54G>A, XM_017023681.3:c.72G>A, XM_017023681.2:c.72G>A, XM_017023681.1:c.72G>A, NM_001354103.2:c.54G>A, NM_001354103.1:c.54G>A, NM_001354102.2:c.54G>A, NM_001354102.1:c.54G>A, NM_001354101.2:c.54G>A, NM_001354101.1:c.54G>A, NM_001354099.2:c.54G>A, NM_001354099.1:c.54G>A, NM_001354100.2:c.54G>A, NM_001354100.1:c.54G>A, NM_001354098.2:c.132G>A, NM_001354098.1:c.132G>A, NM_001354096.2:c.54G>A, NM_001354096.1:c.54G>A, NM_001354092.2:c.54G>A, NM_001354092.1:c.54G>A, NM_001354090.2:c.54G>A, NM_001354090.1:c.54G>A, NM_001354085.2:c.54G>A, NM_001354085.1:c.54G>A, NM_001354088.2:c.54G>A, NM_001354088.1:c.54G>A, NM_001354084.2:c.54G>A, NM_001354084.1:c.54G>A, NM_001354089.2:c.54G>A, NM_001354089.1:c.54G>A, NM_001354091.2:c.54G>A, NM_001354091.1:c.54G>A, NM_001354095.2:c.54G>A, NM_001354095.1:c.54G>A, NM_001354094.2:c.54G>A, NM_001354094.1:c.54G>A, NM_001354081.2:c.54G>A, NM_001354081.1:c.54G>A, NM_001354097.2:c.54G>A, NM_001354097.1:c.54G>A, NM_001354086.2:c.54G>A, NM_001354086.1:c.54G>A, XM_024450454.2:c.54G>A, XM_024450454.1:c.54G>A, NM_001354083.2:c.54G>A, NM_001354083.1:c.54G>A, XM_017023703.2:c.54G>A, XM_017023703.1:c.54G>A, XM_047434673.1:c.72G>A, XM_047434670.1:c.72G>A, XM_047434675.1:c.72G>A, XM_047434671.1:c.72G>A, XM_047434672.1:c.72G>A, XM_047434677.1:c.54G>A, XM_047434669.1:c.72G>A, NM_001354087.1:c.54G>A, NM_001354079.1:c.54G>A, NM_001354080.1:c.54G>A, XM_047434676.1:c.72G>A, XM_047434678.1:c.54G>A, NM_001354093.1:c.54G>A, XM_047434679.1:c.54G>A, XM_047434680.1:c.54G>A, XM_047434681.1:c.54G>A, XM_047434668.1:c.93G>A, NM_001354082.1:c.54G>A, NM_001354078.1:c.54G>A, XM_017023704.1:c.54G>A

                          13.

                          rs1460304906 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:57167209 (GRCh38)
                            16:57201121 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57167208:A:G
                            Gene:
                            PSME3IP1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.57167209A>G, NC_000016.9:g.57201121A>G, NM_024946.4:c.366T>C, NM_024946.3:c.366T>C, NM_024946.2:c.366T>C, XM_017023681.3:c.384T>C, XM_017023681.2:c.384T>C, XM_017023681.1:c.384T>C, NM_001354103.2:c.366T>C, NM_001354103.1:c.366T>C, NM_001354102.2:c.366T>C, NM_001354102.1:c.366T>C, NM_001354101.2:c.366T>C, NM_001354101.1:c.366T>C, NM_001354099.2:c.366T>C, NM_001354099.1:c.366T>C, NM_001354100.2:c.366T>C, NM_001354100.1:c.366T>C, NM_001354098.2:c.444T>C, NM_001354098.1:c.444T>C, NM_001354096.2:c.366T>C, NM_001354096.1:c.366T>C, NM_001354092.2:c.366T>C, NM_001354092.1:c.366T>C, NM_001354090.2:c.366T>C, NM_001354090.1:c.366T>C, NM_001354085.2:c.366T>C, NM_001354085.1:c.366T>C, NM_001354088.2:c.366T>C, NM_001354088.1:c.366T>C, NM_001354084.2:c.366T>C, NM_001354084.1:c.366T>C, NM_001354089.2:c.366T>C, NM_001354089.1:c.366T>C, NM_001354091.2:c.366T>C, NM_001354091.1:c.366T>C, NM_001354095.2:c.366T>C, NM_001354095.1:c.366T>C, NM_001354094.2:c.366T>C, NM_001354094.1:c.366T>C, NM_001354081.2:c.366T>C, NM_001354081.1:c.366T>C, NM_001354097.2:c.366T>C, NM_001354097.1:c.366T>C, NM_001354086.2:c.366T>C, NM_001354086.1:c.366T>C, XM_024450454.2:c.366T>C, XM_024450454.1:c.366T>C, NM_001354083.2:c.366T>C, NM_001354083.1:c.366T>C, XM_017023703.2:c.366T>C, XM_017023703.1:c.366T>C, XM_047434673.1:c.384T>C, XM_047434670.1:c.384T>C, XM_047434675.1:c.384T>C, XM_047434671.1:c.384T>C, XM_047434672.1:c.384T>C, XM_047434677.1:c.366T>C, XM_047434669.1:c.384T>C, NM_001354087.1:c.366T>C, NM_001354079.1:c.366T>C, NM_001354080.1:c.366T>C, XM_047434676.1:c.384T>C, XM_047434678.1:c.366T>C, NM_001354093.1:c.366T>C, XM_047434679.1:c.366T>C, XM_047434680.1:c.366T>C, XM_047434681.1:c.366T>C, XM_047434668.1:c.405T>C, NM_001354082.1:c.366T>C, NM_001354078.1:c.366T>C, XM_017023704.1:c.366T>C

                            14.

                            rs1460017504 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              16:57154318 (GRCh38)
                              16:57188230 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57154317:C:G,NC_000016.10:57154317:C:T
                              Gene:
                              PSME3IP1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000051/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000016.10:g.57154318C>G, NC_000016.10:g.57154318C>T, NC_000016.9:g.57188230C>G, NC_000016.9:g.57188230C>T, NM_024946.4:c.737G>C, NM_024946.4:c.737G>A, NM_024946.3:c.737G>C, NM_024946.3:c.737G>A, NM_024946.2:c.737G>C, NM_024946.2:c.737G>A, XM_017023681.3:c.755G>C, XM_017023681.3:c.755G>A, XM_017023681.2:c.755G>C, XM_017023681.2:c.755G>A, XM_017023681.1:c.755G>C, XM_017023681.1:c.755G>A, NM_001354103.2:c.737G>C, NM_001354103.2:c.737G>A, NM_001354103.1:c.737G>C, NM_001354103.1:c.737G>A, NM_001354102.2:c.737G>C, NM_001354102.2:c.737G>A, NM_001354102.1:c.737G>C, NM_001354102.1:c.737G>A, NM_001354101.2:c.737G>C, NM_001354101.2:c.737G>A, NM_001354101.1:c.737G>C, NM_001354101.1:c.737G>A, NM_001354099.2:c.737G>C, NM_001354099.2:c.737G>A, NM_001354099.1:c.737G>C, NM_001354099.1:c.737G>A, NM_001354100.2:c.737G>C, NM_001354100.2:c.737G>A, NM_001354100.1:c.737G>C, NM_001354100.1:c.737G>A, NM_001354098.2:c.815G>C, NM_001354098.2:c.815G>A, NM_001354098.1:c.815G>C, NM_001354098.1:c.815G>A, NM_001354096.2:c.737G>C, NM_001354096.2:c.737G>A, NM_001354096.1:c.737G>C, NM_001354096.1:c.737G>A, NM_001354092.2:c.737G>C, NM_001354092.2:c.737G>A, NM_001354092.1:c.737G>C, NM_001354092.1:c.737G>A, NM_001354090.2:c.737G>C, NM_001354090.2:c.737G>A, NM_001354090.1:c.737G>C, NM_001354090.1:c.737G>A, NM_001354085.2:c.737G>C, NM_001354085.2:c.737G>A, NM_001354085.1:c.737G>C, NM_001354085.1:c.737G>A, NM_001354088.2:c.737G>C, NM_001354088.2:c.737G>A, NM_001354088.1:c.737G>C, NM_001354088.1:c.737G>A, NM_001354084.2:c.737G>C, NM_001354084.2:c.737G>A, NM_001354084.1:c.737G>C, NM_001354084.1:c.737G>A, NM_001354089.2:c.737G>C, NM_001354089.2:c.737G>A, NM_001354089.1:c.737G>C, NM_001354089.1:c.737G>A, NM_001354091.2:c.737G>C, NM_001354091.2:c.737G>A, NM_001354091.1:c.737G>C, NM_001354091.1:c.737G>A, NM_001354095.2:c.737G>C, NM_001354095.2:c.737G>A, NM_001354095.1:c.737G>C, NM_001354095.1:c.737G>A, NM_001354094.2:c.737G>C, NM_001354094.2:c.737G>A, NM_001354094.1:c.737G>C, NM_001354094.1:c.737G>A, NM_001354081.2:c.737G>C, NM_001354081.2:c.737G>A, NM_001354081.1:c.737G>C, NM_001354081.1:c.737G>A, NM_001354097.2:c.737G>C, NM_001354097.2:c.737G>A, NM_001354097.1:c.737G>C, NM_001354097.1:c.737G>A, NM_001354086.2:c.737G>C, NM_001354086.2:c.737G>A, NM_001354086.1:c.737G>C, NM_001354086.1:c.737G>A, XM_024450454.2:c.737G>C, XM_024450454.2:c.737G>A, XM_024450454.1:c.737G>C, XM_024450454.1:c.737G>A, NM_001354083.2:c.737G>C, NM_001354083.2:c.737G>A, NM_001354083.1:c.737G>C, NM_001354083.1:c.737G>A, XM_017023703.2:c.737G>C, XM_017023703.2:c.737G>A, XM_017023703.1:c.737G>C, XM_017023703.1:c.737G>A, XM_047434673.1:c.755G>C, XM_047434673.1:c.755G>A, XM_047434670.1:c.755G>C, XM_047434670.1:c.755G>A, XM_047434675.1:c.755G>C, XM_047434675.1:c.755G>A, XM_047434671.1:c.755G>C, XM_047434671.1:c.755G>A, XM_047434672.1:c.755G>C, XM_047434672.1:c.755G>A, XM_047434677.1:c.737G>C, XM_047434677.1:c.737G>A, XM_047434669.1:c.755G>C, XM_047434669.1:c.755G>A, NM_001354087.1:c.737G>C, NM_001354087.1:c.737G>A, NM_001354079.1:c.737G>C, NM_001354079.1:c.737G>A, NM_001354080.1:c.737G>C, NM_001354080.1:c.737G>A, XM_047434676.1:c.755G>C, XM_047434676.1:c.755G>A, XM_047434678.1:c.737G>C, XM_047434678.1:c.737G>A, NM_001354093.1:c.737G>C, NM_001354093.1:c.737G>A, XM_047434679.1:c.737G>C, XM_047434679.1:c.737G>A, XM_047434680.1:c.737G>C, XM_047434680.1:c.737G>A, XM_047434681.1:c.737G>C, XM_047434681.1:c.737G>A, XM_047434668.1:c.776G>C, XM_047434668.1:c.776G>A, NM_001354082.1:c.737G>C, NM_001354082.1:c.737G>A, NM_001354078.1:c.737G>C, NM_001354078.1:c.737G>A, XM_017023704.1:c.737G>C, XM_017023704.1:c.737G>A, NP_079222.1:p.Arg246Pro, NP_079222.1:p.Arg246Gln, XP_016879170.1:p.Arg252Pro, XP_016879170.1:p.Arg252Gln, NP_001341032.1:p.Arg246Pro, NP_001341032.1:p.Arg246Gln, NP_001341031.1:p.Arg246Pro, NP_001341031.1:p.Arg246Gln, NP_001341030.1:p.Arg246Pro, NP_001341030.1:p.Arg246Gln, NP_001341028.1:p.Arg246Pro, NP_001341028.1:p.Arg246Gln, NP_001341029.1:p.Arg246Pro, NP_001341029.1:p.Arg246Gln, NP_001341027.1:p.Arg272Pro, NP_001341027.1:p.Arg272Gln, NP_001341025.1:p.Arg246Pro, NP_001341025.1:p.Arg246Gln, NP_001341021.1:p.Arg246Pro, NP_001341021.1:p.Arg246Gln, NP_001341019.1:p.Arg246Pro, NP_001341019.1:p.Arg246Gln, NP_001341014.1:p.Arg246Pro, NP_001341014.1:p.Arg246Gln, NP_001341017.1:p.Arg246Pro, NP_001341017.1:p.Arg246Gln, NP_001341013.1:p.Arg246Pro, NP_001341013.1:p.Arg246Gln, NP_001341018.1:p.Arg246Pro, NP_001341018.1:p.Arg246Gln, NP_001341020.1:p.Arg246Pro, NP_001341020.1:p.Arg246Gln, NP_001341024.1:p.Arg246Pro, NP_001341024.1:p.Arg246Gln, NP_001341023.1:p.Arg246Pro, NP_001341023.1:p.Arg246Gln, NP_001341010.1:p.Arg246Pro, NP_001341010.1:p.Arg246Gln, NP_001341026.1:p.Arg246Pro, NP_001341026.1:p.Arg246Gln, NP_001341015.1:p.Arg246Pro, NP_001341015.1:p.Arg246Gln, XP_024306222.1:p.Arg246Pro, XP_024306222.1:p.Arg246Gln, NP_001341012.1:p.Arg246Pro, NP_001341012.1:p.Arg246Gln, XP_016879192.1:p.Arg246Pro, XP_016879192.1:p.Arg246Gln, XP_047290629.1:p.Arg252Pro, XP_047290629.1:p.Arg252Gln, XP_047290626.1:p.Arg252Pro, XP_047290626.1:p.Arg252Gln, XP_047290631.1:p.Arg252Pro, XP_047290631.1:p.Arg252Gln, XP_047290627.1:p.Arg252Pro, XP_047290627.1:p.Arg252Gln, XP_047290628.1:p.Arg252Pro, XP_047290628.1:p.Arg252Gln, XP_047290633.1:p.Arg246Pro, XP_047290633.1:p.Arg246Gln, XP_047290625.1:p.Arg252Pro, XP_047290625.1:p.Arg252Gln, NP_001341016.1:p.Arg246Pro, NP_001341016.1:p.Arg246Gln, NP_001341008.1:p.Arg246Pro, NP_001341008.1:p.Arg246Gln, NP_001341009.1:p.Arg246Pro, NP_001341009.1:p.Arg246Gln, XP_047290632.1:p.Arg252Pro, XP_047290632.1:p.Arg252Gln, XP_047290634.1:p.Arg246Pro, XP_047290634.1:p.Arg246Gln, XP_047290635.1:p.Arg246Pro, XP_047290635.1:p.Arg246Gln, XP_047290636.1:p.Arg246Pro, XP_047290636.1:p.Arg246Gln, XP_047290637.1:p.Arg246Pro, XP_047290637.1:p.Arg246Gln, XP_047290624.1:p.Arg259Pro, XP_047290624.1:p.Arg259Gln, NP_001341011.1:p.Arg246Pro, NP_001341011.1:p.Arg246Gln, NP_001341007.1:p.Arg246Pro, NP_001341007.1:p.Arg246Gln, XP_016879193.1:p.Arg246Pro, XP_016879193.1:p.Arg246Gln

                              15.

                              rs1459086415 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CTC>- [Show Flanks]
                                Chromosome:
                                16:57172864 (GRCh38)
                                16:57206776 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57172859:CCTCCTC:CCTC
                                Gene:
                                PSME3IP1 (Varview)
                                Functional Consequence:
                                inframe_deletion,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CCTC=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000016.10:g.57172861CTC[1], NC_000016.9:g.57206773CTC[1], NM_024946.4:c.137AGG[1], NM_024946.3:c.137AGG[1], NM_024946.2:c.137AGG[1], XM_017023681.3:c.155AGG[1], XM_017023681.2:c.155AGG[1], XM_017023681.1:c.155AGG[1], NM_001354103.2:c.137AGG[1], NM_001354103.1:c.137AGG[1], NM_001354102.2:c.137AGG[1], NM_001354102.1:c.137AGG[1], NM_001354101.2:c.137AGG[1], NM_001354101.1:c.137AGG[1], NM_001354099.2:c.137AGG[1], NM_001354099.1:c.137AGG[1], NM_001354100.2:c.137AGG[1], NM_001354100.1:c.137AGG[1], NM_001354098.2:c.215AGG[1], NM_001354098.1:c.215AGG[1], NM_001354096.2:c.137AGG[1], NM_001354096.1:c.137AGG[1], NM_001354092.2:c.137AGG[1], NM_001354092.1:c.137AGG[1], NM_001354090.2:c.137AGG[1], NM_001354090.1:c.137AGG[1], NM_001354085.2:c.137AGG[1], NM_001354085.1:c.137AGG[1], NM_001354088.2:c.137AGG[1], NM_001354088.1:c.137AGG[1], NM_001354084.2:c.137AGG[1], NM_001354084.1:c.137AGG[1], NM_001354089.2:c.137AGG[1], NM_001354089.1:c.137AGG[1], NM_001354091.2:c.137AGG[1], NM_001354091.1:c.137AGG[1], NM_001354095.2:c.137AGG[1], NM_001354095.1:c.137AGG[1], NM_001354094.2:c.137AGG[1], NM_001354094.1:c.137AGG[1], NM_001354081.2:c.137AGG[1], NM_001354081.1:c.137AGG[1], NM_001354097.2:c.137AGG[1], NM_001354097.1:c.137AGG[1], NM_001354086.2:c.137AGG[1], NM_001354086.1:c.137AGG[1], XM_024450454.2:c.137AGG[1], XM_024450454.1:c.137AGG[1], NM_001354083.2:c.137AGG[1], NM_001354083.1:c.137AGG[1], XM_017023703.2:c.137AGG[1], XM_017023703.1:c.137AGG[1], XM_047434673.1:c.155AGG[1], XM_047434670.1:c.155AGG[1], XM_047434675.1:c.155AGG[1], XM_047434671.1:c.155AGG[1], XM_047434672.1:c.155AGG[1], XM_047434677.1:c.137AGG[1], XM_047434669.1:c.155AGG[1], NM_001354087.1:c.137AGG[1], NM_001354079.1:c.137AGG[1], NM_001354080.1:c.137AGG[1], XM_047434676.1:c.155AGG[1], XM_047434678.1:c.137AGG[1], NM_001354093.1:c.137AGG[1], XM_047434679.1:c.137AGG[1], XM_047434680.1:c.137AGG[1], XM_047434681.1:c.137AGG[1], XM_047434668.1:c.176AGG[1], NM_001354082.1:c.137AGG[1], NM_001354078.1:c.137AGG[1], XM_017023704.1:c.137AGG[1], NP_079222.1:p.Glu47del, XP_016879170.1:p.Glu53del, NP_001341032.1:p.Glu47del, NP_001341031.1:p.Glu47del, NP_001341030.1:p.Glu47del, NP_001341028.1:p.Glu47del, NP_001341029.1:p.Glu47del, NP_001341027.1:p.Glu73del, NP_001341025.1:p.Glu47del, NP_001341021.1:p.Glu47del, NP_001341019.1:p.Glu47del, NP_001341014.1:p.Glu47del, NP_001341017.1:p.Glu47del, NP_001341013.1:p.Glu47del, NP_001341018.1:p.Glu47del, NP_001341020.1:p.Glu47del, NP_001341024.1:p.Glu47del, NP_001341023.1:p.Glu47del, NP_001341010.1:p.Glu47del, NP_001341026.1:p.Glu47del, NP_001341015.1:p.Glu47del, XP_024306222.1:p.Glu47del, NP_001341012.1:p.Glu47del, XP_016879192.1:p.Glu47del, XP_047290629.1:p.Glu53del, XP_047290626.1:p.Glu53del, XP_047290631.1:p.Glu53del, XP_047290627.1:p.Glu53del, XP_047290628.1:p.Glu53del, XP_047290633.1:p.Glu47del, XP_047290625.1:p.Glu53del, NP_001341016.1:p.Glu47del, NP_001341008.1:p.Glu47del, NP_001341009.1:p.Glu47del, XP_047290632.1:p.Glu53del, XP_047290634.1:p.Glu47del, XP_047290635.1:p.Glu47del, XP_047290636.1:p.Glu47del, XP_047290637.1:p.Glu47del, XP_047290624.1:p.Glu60del, NP_001341011.1:p.Glu47del, NP_001341007.1:p.Glu47del, XP_016879193.1:p.Glu47del

                                16.

                                rs1454473075 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  16:57172289 (GRCh38)
                                  16:57206201 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57172288:G:A,NC_000016.10:57172288:G:T
                                  Gene:
                                  PSME3IP1 (Varview)
                                  Functional Consequence:
                                  stop_gained,synonymous_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000016.10:g.57172289G>A, NC_000016.10:g.57172289G>T, NC_000016.9:g.57206201G>A, NC_000016.9:g.57206201G>T, NM_024946.4:c.310C>T, NM_024946.4:c.310C>A, NM_024946.3:c.310C>T, NM_024946.3:c.310C>A, NM_024946.2:c.310C>T, NM_024946.2:c.310C>A, XM_017023681.3:c.328C>T, XM_017023681.3:c.328C>A, XM_017023681.2:c.328C>T, XM_017023681.2:c.328C>A, XM_017023681.1:c.328C>T, XM_017023681.1:c.328C>A, NM_001354103.2:c.310C>T, NM_001354103.2:c.310C>A, NM_001354103.1:c.310C>T, NM_001354103.1:c.310C>A, NM_001354102.2:c.310C>T, NM_001354102.2:c.310C>A, NM_001354102.1:c.310C>T, NM_001354102.1:c.310C>A, NM_001354101.2:c.310C>T, NM_001354101.2:c.310C>A, NM_001354101.1:c.310C>T, NM_001354101.1:c.310C>A, NM_001354099.2:c.310C>T, NM_001354099.2:c.310C>A, NM_001354099.1:c.310C>T, NM_001354099.1:c.310C>A, NM_001354100.2:c.310C>T, NM_001354100.2:c.310C>A, NM_001354100.1:c.310C>T, NM_001354100.1:c.310C>A, NM_001354098.2:c.388C>T, NM_001354098.2:c.388C>A, NM_001354098.1:c.388C>T, NM_001354098.1:c.388C>A, NM_001354096.2:c.310C>T, NM_001354096.2:c.310C>A, NM_001354096.1:c.310C>T, NM_001354096.1:c.310C>A, NM_001354092.2:c.310C>T, NM_001354092.2:c.310C>A, NM_001354092.1:c.310C>T, NM_001354092.1:c.310C>A, NM_001354090.2:c.310C>T, NM_001354090.2:c.310C>A, NM_001354090.1:c.310C>T, NM_001354090.1:c.310C>A, NM_001354085.2:c.310C>T, NM_001354085.2:c.310C>A, NM_001354085.1:c.310C>T, NM_001354085.1:c.310C>A, NM_001354088.2:c.310C>T, NM_001354088.2:c.310C>A, NM_001354088.1:c.310C>T, NM_001354088.1:c.310C>A, NM_001354084.2:c.310C>T, NM_001354084.2:c.310C>A, NM_001354084.1:c.310C>T, NM_001354084.1:c.310C>A, NM_001354089.2:c.310C>T, NM_001354089.2:c.310C>A, NM_001354089.1:c.310C>T, NM_001354089.1:c.310C>A, NM_001354091.2:c.310C>T, NM_001354091.2:c.310C>A, NM_001354091.1:c.310C>T, NM_001354091.1:c.310C>A, NM_001354095.2:c.310C>T, NM_001354095.2:c.310C>A, NM_001354095.1:c.310C>T, NM_001354095.1:c.310C>A, NM_001354094.2:c.310C>T, NM_001354094.2:c.310C>A, NM_001354094.1:c.310C>T, NM_001354094.1:c.310C>A, NM_001354081.2:c.310C>T, NM_001354081.2:c.310C>A, NM_001354081.1:c.310C>T, NM_001354081.1:c.310C>A, NM_001354097.2:c.310C>T, NM_001354097.2:c.310C>A, NM_001354097.1:c.310C>T, NM_001354097.1:c.310C>A, NM_001354086.2:c.310C>T, NM_001354086.2:c.310C>A, NM_001354086.1:c.310C>T, NM_001354086.1:c.310C>A, XM_024450454.2:c.310C>T, XM_024450454.2:c.310C>A, XM_024450454.1:c.310C>T, XM_024450454.1:c.310C>A, NM_001354083.2:c.310C>T, NM_001354083.2:c.310C>A, NM_001354083.1:c.310C>T, NM_001354083.1:c.310C>A, XM_017023703.2:c.310C>T, XM_017023703.2:c.310C>A, XM_017023703.1:c.310C>T, XM_017023703.1:c.310C>A, XM_047434673.1:c.328C>T, XM_047434673.1:c.328C>A, XM_047434670.1:c.328C>T, XM_047434670.1:c.328C>A, XM_047434675.1:c.328C>T, XM_047434675.1:c.328C>A, XM_047434671.1:c.328C>T, XM_047434671.1:c.328C>A, XM_047434672.1:c.328C>T, XM_047434672.1:c.328C>A, XM_047434677.1:c.310C>T, XM_047434677.1:c.310C>A, XM_047434669.1:c.328C>T, XM_047434669.1:c.328C>A, NM_001354087.1:c.310C>T, NM_001354087.1:c.310C>A, NM_001354079.1:c.310C>T, NM_001354079.1:c.310C>A, NM_001354080.1:c.310C>T, NM_001354080.1:c.310C>A, XM_047434676.1:c.328C>T, XM_047434676.1:c.328C>A, XM_047434678.1:c.310C>T, XM_047434678.1:c.310C>A, NM_001354093.1:c.310C>T, NM_001354093.1:c.310C>A, XM_047434679.1:c.310C>T, XM_047434679.1:c.310C>A, XM_047434680.1:c.310C>T, XM_047434680.1:c.310C>A, XM_047434681.1:c.310C>T, XM_047434681.1:c.310C>A, XM_047434668.1:c.349C>T, XM_047434668.1:c.349C>A, NM_001354082.1:c.310C>T, NM_001354082.1:c.310C>A, NM_001354078.1:c.310C>T, NM_001354078.1:c.310C>A, XM_017023704.1:c.310C>T, XM_017023704.1:c.310C>A, NP_079222.1:p.Arg104Ter, XP_016879170.1:p.Arg110Ter, NP_001341032.1:p.Arg104Ter, NP_001341031.1:p.Arg104Ter, NP_001341030.1:p.Arg104Ter, NP_001341028.1:p.Arg104Ter, NP_001341029.1:p.Arg104Ter, NP_001341027.1:p.Arg130Ter, NP_001341025.1:p.Arg104Ter, NP_001341021.1:p.Arg104Ter, NP_001341019.1:p.Arg104Ter, NP_001341014.1:p.Arg104Ter, NP_001341017.1:p.Arg104Ter, NP_001341013.1:p.Arg104Ter, NP_001341018.1:p.Arg104Ter, NP_001341020.1:p.Arg104Ter, NP_001341024.1:p.Arg104Ter, NP_001341023.1:p.Arg104Ter, NP_001341010.1:p.Arg104Ter, NP_001341026.1:p.Arg104Ter, NP_001341015.1:p.Arg104Ter, XP_024306222.1:p.Arg104Ter, NP_001341012.1:p.Arg104Ter, XP_016879192.1:p.Arg104Ter, XP_047290629.1:p.Arg110Ter, XP_047290626.1:p.Arg110Ter, XP_047290631.1:p.Arg110Ter, XP_047290627.1:p.Arg110Ter, XP_047290628.1:p.Arg110Ter, XP_047290633.1:p.Arg104Ter, XP_047290625.1:p.Arg110Ter, NP_001341016.1:p.Arg104Ter, NP_001341008.1:p.Arg104Ter, NP_001341009.1:p.Arg104Ter, XP_047290632.1:p.Arg110Ter, XP_047290634.1:p.Arg104Ter, XP_047290635.1:p.Arg104Ter, XP_047290636.1:p.Arg104Ter, XP_047290637.1:p.Arg104Ter, XP_047290624.1:p.Arg117Ter, NP_001341011.1:p.Arg104Ter, NP_001341007.1:p.Arg104Ter, XP_016879193.1:p.Arg104Ter

                                  17.

                                  rs1453964619 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CCG>- [Show Flanks]
                                    Chromosome:
                                    16:57173783 (GRCh38)
                                    16:57207695 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57173780:CGCCG:CG
                                    Gene:
                                    PSME3IP1 (Varview)
                                    Functional Consequence:
                                    inframe_deletion,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.57173783_57173785del, NC_000016.9:g.57207695_57207697del, NM_024946.4:c.72_74del, NM_024946.3:c.72_74del, NM_024946.2:c.72_74del, XM_017023681.3:c.90_92del, XM_017023681.2:c.90_92del, XM_017023681.1:c.90_92del, NM_001354103.2:c.72_74del, NM_001354103.1:c.72_74del, NM_001354102.2:c.72_74del, NM_001354102.1:c.72_74del, NM_001354101.2:c.72_74del, NM_001354101.1:c.72_74del, NM_001354099.2:c.72_74del, NM_001354099.1:c.72_74del, NM_001354100.2:c.72_74del, NM_001354100.1:c.72_74del, NM_001354098.2:c.150_152del, NM_001354098.1:c.150_152del, NM_001354096.2:c.72_74del, NM_001354096.1:c.72_74del, NM_001354092.2:c.72_74del, NM_001354092.1:c.72_74del, NM_001354090.2:c.72_74del, NM_001354090.1:c.72_74del, NM_001354085.2:c.72_74del, NM_001354085.1:c.72_74del, NM_001354088.2:c.72_74del, NM_001354088.1:c.72_74del, NM_001354084.2:c.72_74del, NM_001354084.1:c.72_74del, NM_001354089.2:c.72_74del, NM_001354089.1:c.72_74del, NM_001354091.2:c.72_74del, NM_001354091.1:c.72_74del, NM_001354095.2:c.72_74del, NM_001354095.1:c.72_74del, NM_001354094.2:c.72_74del, NM_001354094.1:c.72_74del, NM_001354081.2:c.72_74del, NM_001354081.1:c.72_74del, NM_001354097.2:c.72_74del, NM_001354097.1:c.72_74del, NM_001354086.2:c.72_74del, NM_001354086.1:c.72_74del, XM_024450454.2:c.72_74del, XM_024450454.1:c.72_74del, NM_001354083.2:c.72_74del, NM_001354083.1:c.72_74del, XM_017023703.2:c.72_74del, XM_017023703.1:c.72_74del, XM_047434673.1:c.90_92del, XM_047434670.1:c.90_92del, XM_047434675.1:c.90_92del, XM_047434671.1:c.90_92del, XM_047434672.1:c.90_92del, XM_047434677.1:c.72_74del, XM_047434669.1:c.90_92del, NM_001354087.1:c.72_74del, NM_001354079.1:c.72_74del, NM_001354080.1:c.72_74del, XM_047434676.1:c.90_92del, XM_047434678.1:c.72_74del, NM_001354093.1:c.72_74del, XM_047434679.1:c.72_74del, XM_047434680.1:c.72_74del, XM_047434681.1:c.72_74del, XM_047434668.1:c.111_113del, NM_001354082.1:c.72_74del, NM_001354078.1:c.72_74del, XM_017023704.1:c.72_74del, NP_079222.1:p.Arg25del, XP_016879170.1:p.Arg31del, NP_001341032.1:p.Arg25del, NP_001341031.1:p.Arg25del, NP_001341030.1:p.Arg25del, NP_001341028.1:p.Arg25del, NP_001341029.1:p.Arg25del, NP_001341027.1:p.Arg51del, NP_001341025.1:p.Arg25del, NP_001341021.1:p.Arg25del, NP_001341019.1:p.Arg25del, NP_001341014.1:p.Arg25del, NP_001341017.1:p.Arg25del, NP_001341013.1:p.Arg25del, NP_001341018.1:p.Arg25del, NP_001341020.1:p.Arg25del, NP_001341024.1:p.Arg25del, NP_001341023.1:p.Arg25del, NP_001341010.1:p.Arg25del, NP_001341026.1:p.Arg25del, NP_001341015.1:p.Arg25del, XP_024306222.1:p.Arg25del, NP_001341012.1:p.Arg25del, XP_016879192.1:p.Arg25del, XP_047290629.1:p.Arg31del, XP_047290626.1:p.Arg31del, XP_047290631.1:p.Arg31del, XP_047290627.1:p.Arg31del, XP_047290628.1:p.Arg31del, XP_047290633.1:p.Arg25del, XP_047290625.1:p.Arg31del, NP_001341016.1:p.Arg25del, NP_001341008.1:p.Arg25del, NP_001341009.1:p.Arg25del, XP_047290632.1:p.Arg31del, XP_047290634.1:p.Arg25del, XP_047290635.1:p.Arg25del, XP_047290636.1:p.Arg25del, XP_047290637.1:p.Arg25del, XP_047290624.1:p.Arg38del, NP_001341011.1:p.Arg25del, NP_001341007.1:p.Arg25del, XP_016879193.1:p.Arg25del

                                    18.

                                    rs1453171401 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      16:57167198 (GRCh38)
                                      16:57201110 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:57167197:T:C
                                      Gene:
                                      PSME3IP1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.57167198T>C, NC_000016.9:g.57201110T>C, NM_024946.4:c.377A>G, NM_024946.3:c.377A>G, NM_024946.2:c.377A>G, XM_017023681.3:c.395A>G, XM_017023681.2:c.395A>G, XM_017023681.1:c.395A>G, NM_001354103.2:c.377A>G, NM_001354103.1:c.377A>G, NM_001354102.2:c.377A>G, NM_001354102.1:c.377A>G, NM_001354101.2:c.377A>G, NM_001354101.1:c.377A>G, NM_001354099.2:c.377A>G, NM_001354099.1:c.377A>G, NM_001354100.2:c.377A>G, NM_001354100.1:c.377A>G, NM_001354098.2:c.455A>G, NM_001354098.1:c.455A>G, NM_001354096.2:c.377A>G, NM_001354096.1:c.377A>G, NM_001354092.2:c.377A>G, NM_001354092.1:c.377A>G, NM_001354090.2:c.377A>G, NM_001354090.1:c.377A>G, NM_001354085.2:c.377A>G, NM_001354085.1:c.377A>G, NM_001354088.2:c.377A>G, NM_001354088.1:c.377A>G, NM_001354084.2:c.377A>G, NM_001354084.1:c.377A>G, NM_001354089.2:c.377A>G, NM_001354089.1:c.377A>G, NM_001354091.2:c.377A>G, NM_001354091.1:c.377A>G, NM_001354095.2:c.377A>G, NM_001354095.1:c.377A>G, NM_001354094.2:c.377A>G, NM_001354094.1:c.377A>G, NM_001354081.2:c.377A>G, NM_001354081.1:c.377A>G, NM_001354097.2:c.377A>G, NM_001354097.1:c.377A>G, NM_001354086.2:c.377A>G, NM_001354086.1:c.377A>G, XM_024450454.2:c.377A>G, XM_024450454.1:c.377A>G, NM_001354083.2:c.377A>G, NM_001354083.1:c.377A>G, XM_017023703.2:c.377A>G, XM_017023703.1:c.377A>G, XM_047434673.1:c.395A>G, XM_047434670.1:c.395A>G, XM_047434675.1:c.395A>G, XM_047434671.1:c.395A>G, XM_047434672.1:c.395A>G, XM_047434677.1:c.377A>G, XM_047434669.1:c.395A>G, NM_001354087.1:c.377A>G, NM_001354079.1:c.377A>G, NM_001354080.1:c.377A>G, XM_047434676.1:c.395A>G, XM_047434678.1:c.377A>G, NM_001354093.1:c.377A>G, XM_047434679.1:c.377A>G, XM_047434680.1:c.377A>G, XM_047434681.1:c.377A>G, XM_047434668.1:c.416A>G, NM_001354082.1:c.377A>G, NM_001354078.1:c.377A>G, XM_017023704.1:c.377A>G, NP_079222.1:p.Gln126Arg, XP_016879170.1:p.Gln132Arg, NP_001341032.1:p.Gln126Arg, NP_001341031.1:p.Gln126Arg, NP_001341030.1:p.Gln126Arg, NP_001341028.1:p.Gln126Arg, NP_001341029.1:p.Gln126Arg, NP_001341027.1:p.Gln152Arg, NP_001341025.1:p.Gln126Arg, NP_001341021.1:p.Gln126Arg, NP_001341019.1:p.Gln126Arg, NP_001341014.1:p.Gln126Arg, NP_001341017.1:p.Gln126Arg, NP_001341013.1:p.Gln126Arg, NP_001341018.1:p.Gln126Arg, NP_001341020.1:p.Gln126Arg, NP_001341024.1:p.Gln126Arg, NP_001341023.1:p.Gln126Arg, NP_001341010.1:p.Gln126Arg, NP_001341026.1:p.Gln126Arg, NP_001341015.1:p.Gln126Arg, XP_024306222.1:p.Gln126Arg, NP_001341012.1:p.Gln126Arg, XP_016879192.1:p.Gln126Arg, XP_047290629.1:p.Gln132Arg, XP_047290626.1:p.Gln132Arg, XP_047290631.1:p.Gln132Arg, XP_047290627.1:p.Gln132Arg, XP_047290628.1:p.Gln132Arg, XP_047290633.1:p.Gln126Arg, XP_047290625.1:p.Gln132Arg, NP_001341016.1:p.Gln126Arg, NP_001341008.1:p.Gln126Arg, NP_001341009.1:p.Gln126Arg, XP_047290632.1:p.Gln132Arg, XP_047290634.1:p.Gln126Arg, XP_047290635.1:p.Gln126Arg, XP_047290636.1:p.Gln126Arg, XP_047290637.1:p.Gln126Arg, XP_047290624.1:p.Gln139Arg, NP_001341011.1:p.Gln126Arg, NP_001341007.1:p.Gln126Arg, XP_016879193.1:p.Gln126Arg

                                      19.

                                      rs1442007848 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:57172346 (GRCh38)
                                        16:57206258 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57172345: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=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.57172346C>T, NC_000016.9:g.57206258C>T, NM_024946.4:c.253G>A, NM_024946.3:c.253G>A, NM_024946.2:c.253G>A, XM_017023681.3:c.271G>A, XM_017023681.2:c.271G>A, XM_017023681.1:c.271G>A, NM_001354103.2:c.253G>A, NM_001354103.1:c.253G>A, NM_001354102.2:c.253G>A, NM_001354102.1:c.253G>A, NM_001354101.2:c.253G>A, NM_001354101.1:c.253G>A, NM_001354099.2:c.253G>A, NM_001354099.1:c.253G>A, NM_001354100.2:c.253G>A, NM_001354100.1:c.253G>A, NM_001354098.2:c.331G>A, NM_001354098.1:c.331G>A, NM_001354096.2:c.253G>A, NM_001354096.1:c.253G>A, NM_001354092.2:c.253G>A, NM_001354092.1:c.253G>A, NM_001354090.2:c.253G>A, NM_001354090.1:c.253G>A, NM_001354085.2:c.253G>A, NM_001354085.1:c.253G>A, NM_001354088.2:c.253G>A, NM_001354088.1:c.253G>A, NM_001354084.2:c.253G>A, NM_001354084.1:c.253G>A, NM_001354089.2:c.253G>A, NM_001354089.1:c.253G>A, NM_001354091.2:c.253G>A, NM_001354091.1:c.253G>A, NM_001354095.2:c.253G>A, NM_001354095.1:c.253G>A, NM_001354094.2:c.253G>A, NM_001354094.1:c.253G>A, NM_001354081.2:c.253G>A, NM_001354081.1:c.253G>A, NM_001354097.2:c.253G>A, NM_001354097.1:c.253G>A, NM_001354086.2:c.253G>A, NM_001354086.1:c.253G>A, XM_024450454.2:c.253G>A, XM_024450454.1:c.253G>A, NM_001354083.2:c.253G>A, NM_001354083.1:c.253G>A, XM_017023703.2:c.253G>A, XM_017023703.1:c.253G>A, XM_047434673.1:c.271G>A, XM_047434670.1:c.271G>A, XM_047434675.1:c.271G>A, XM_047434671.1:c.271G>A, XM_047434672.1:c.271G>A, XM_047434677.1:c.253G>A, XM_047434669.1:c.271G>A, NM_001354087.1:c.253G>A, NM_001354079.1:c.253G>A, NM_001354080.1:c.253G>A, XM_047434676.1:c.271G>A, XM_047434678.1:c.253G>A, NM_001354093.1:c.253G>A, XM_047434679.1:c.253G>A, XM_047434680.1:c.253G>A, XM_047434681.1:c.253G>A, XM_047434668.1:c.292G>A, NM_001354082.1:c.253G>A, NM_001354078.1:c.253G>A, XM_017023704.1:c.253G>A, NP_079222.1:p.Asp85Asn, XP_016879170.1:p.Asp91Asn, NP_001341032.1:p.Asp85Asn, NP_001341031.1:p.Asp85Asn, NP_001341030.1:p.Asp85Asn, NP_001341028.1:p.Asp85Asn, NP_001341029.1:p.Asp85Asn, NP_001341027.1:p.Asp111Asn, NP_001341025.1:p.Asp85Asn, NP_001341021.1:p.Asp85Asn, NP_001341019.1:p.Asp85Asn, NP_001341014.1:p.Asp85Asn, NP_001341017.1:p.Asp85Asn, NP_001341013.1:p.Asp85Asn, NP_001341018.1:p.Asp85Asn, NP_001341020.1:p.Asp85Asn, NP_001341024.1:p.Asp85Asn, NP_001341023.1:p.Asp85Asn, NP_001341010.1:p.Asp85Asn, NP_001341026.1:p.Asp85Asn, NP_001341015.1:p.Asp85Asn, XP_024306222.1:p.Asp85Asn, NP_001341012.1:p.Asp85Asn, XP_016879192.1:p.Asp85Asn, XP_047290629.1:p.Asp91Asn, XP_047290626.1:p.Asp91Asn, XP_047290631.1:p.Asp91Asn, XP_047290627.1:p.Asp91Asn, XP_047290628.1:p.Asp91Asn, XP_047290633.1:p.Asp85Asn, XP_047290625.1:p.Asp91Asn, NP_001341016.1:p.Asp85Asn, NP_001341008.1:p.Asp85Asn, NP_001341009.1:p.Asp85Asn, XP_047290632.1:p.Asp91Asn, XP_047290634.1:p.Asp85Asn, XP_047290635.1:p.Asp85Asn, XP_047290636.1:p.Asp85Asn, XP_047290637.1:p.Asp85Asn, XP_047290624.1:p.Asp98Asn, NP_001341011.1:p.Asp85Asn, NP_001341007.1:p.Asp85Asn, XP_016879193.1:p.Asp85Asn

                                        20.

                                        rs1438230732 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          16:57173824 (GRCh38)
                                          16:57207736 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57173823:T:C
                                          Gene:
                                          PSME3IP1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.57173824T>C, NC_000016.9:g.57207736T>C, NM_024946.4:c.31A>G, NM_024946.3:c.31A>G, NM_024946.2:c.31A>G, XM_017023681.3:c.49A>G, XM_017023681.2:c.49A>G, XM_017023681.1:c.49A>G, NM_001354103.2:c.31A>G, NM_001354103.1:c.31A>G, NM_001354102.2:c.31A>G, NM_001354102.1:c.31A>G, NM_001354101.2:c.31A>G, NM_001354101.1:c.31A>G, NM_001354099.2:c.31A>G, NM_001354099.1:c.31A>G, NM_001354100.2:c.31A>G, NM_001354100.1:c.31A>G, NM_001354098.2:c.109A>G, NM_001354098.1:c.109A>G, NM_001354096.2:c.31A>G, NM_001354096.1:c.31A>G, NM_001354092.2:c.31A>G, NM_001354092.1:c.31A>G, NM_001354090.2:c.31A>G, NM_001354090.1:c.31A>G, NM_001354085.2:c.31A>G, NM_001354085.1:c.31A>G, NM_001354088.2:c.31A>G, NM_001354088.1:c.31A>G, NM_001354084.2:c.31A>G, NM_001354084.1:c.31A>G, NM_001354089.2:c.31A>G, NM_001354089.1:c.31A>G, NM_001354091.2:c.31A>G, NM_001354091.1:c.31A>G, NM_001354095.2:c.31A>G, NM_001354095.1:c.31A>G, NM_001354094.2:c.31A>G, NM_001354094.1:c.31A>G, NM_001354081.2:c.31A>G, NM_001354081.1:c.31A>G, NM_001354097.2:c.31A>G, NM_001354097.1:c.31A>G, NM_001354086.2:c.31A>G, NM_001354086.1:c.31A>G, XM_024450454.2:c.31A>G, XM_024450454.1:c.31A>G, NM_001354083.2:c.31A>G, NM_001354083.1:c.31A>G, XM_017023703.2:c.31A>G, XM_017023703.1:c.31A>G, XM_047434673.1:c.49A>G, XM_047434670.1:c.49A>G, XM_047434675.1:c.49A>G, XM_047434671.1:c.49A>G, XM_047434672.1:c.49A>G, XM_047434677.1:c.31A>G, XM_047434669.1:c.49A>G, NM_001354087.1:c.31A>G, NM_001354079.1:c.31A>G, NM_001354080.1:c.31A>G, XM_047434676.1:c.49A>G, XM_047434678.1:c.31A>G, NM_001354093.1:c.31A>G, XM_047434679.1:c.31A>G, XM_047434680.1:c.31A>G, XM_047434681.1:c.31A>G, XM_047434668.1:c.70A>G, NM_001354082.1:c.31A>G, NM_001354078.1:c.31A>G, XM_017023704.1:c.31A>G, NP_079222.1:p.Ile11Val, XP_016879170.1:p.Ile17Val, NP_001341032.1:p.Ile11Val, NP_001341031.1:p.Ile11Val, NP_001341030.1:p.Ile11Val, NP_001341028.1:p.Ile11Val, NP_001341029.1:p.Ile11Val, NP_001341027.1:p.Ile37Val, NP_001341025.1:p.Ile11Val, NP_001341021.1:p.Ile11Val, NP_001341019.1:p.Ile11Val, NP_001341014.1:p.Ile11Val, NP_001341017.1:p.Ile11Val, NP_001341013.1:p.Ile11Val, NP_001341018.1:p.Ile11Val, NP_001341020.1:p.Ile11Val, NP_001341024.1:p.Ile11Val, NP_001341023.1:p.Ile11Val, NP_001341010.1:p.Ile11Val, NP_001341026.1:p.Ile11Val, NP_001341015.1:p.Ile11Val, XP_024306222.1:p.Ile11Val, NP_001341012.1:p.Ile11Val, XP_016879192.1:p.Ile11Val, XP_047290629.1:p.Ile17Val, XP_047290626.1:p.Ile17Val, XP_047290631.1:p.Ile17Val, XP_047290627.1:p.Ile17Val, XP_047290628.1:p.Ile17Val, XP_047290633.1:p.Ile11Val, XP_047290625.1:p.Ile17Val, NP_001341016.1:p.Ile11Val, NP_001341008.1:p.Ile11Val, NP_001341009.1:p.Ile11Val, XP_047290632.1:p.Ile17Val, XP_047290634.1:p.Ile11Val, XP_047290635.1:p.Ile11Val, XP_047290636.1:p.Ile11Val, XP_047290637.1:p.Ile11Val, XP_047290624.1:p.Ile24Val, NP_001341011.1:p.Ile11Val, NP_001341007.1:p.Ile11Val, XP_016879193.1:p.Ile11Val

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