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Items: 1 to 20 of 2957

1.

rs1490997996 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTG>- [Show Flanks]
    Chromosome:
    9:76706994 (GRCh38)
    9:79321910 (GRCh37)
    Canonical SPDI:
    NC_000009.12:76706990:TTGTTG:TTG
    Gene:
    PRUNE2 (Varview)
    Functional Consequence:
    coding_sequence_variant,inframe_deletion,genic_upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.76706991TTG[1], NC_000009.11:g.79321907TTG[1], XM_006716984.3:c.5278CAA[1], XM_006716984.2:c.5278CAA[1], XM_006716984.1:c.5278CAA[1], XM_011518326.3:c.5278CAA[1], XM_011518326.2:c.5278CAA[1], XM_011518326.1:c.5278CAA[1], XM_011518328.3:c.5278CAA[1], XM_011518328.2:c.5278CAA[1], XM_011518328.1:c.5278CAA[1], XM_011518323.3:c.5278CAA[1], XM_011518323.2:c.5278CAA[1], XM_011518323.1:c.5278CAA[1], NM_015225.3:c.5278CAA[1], NM_015225.2:c.5278CAA[1], XM_005251754.3:c.5278CAA[1], XM_005251754.2:c.5278CAA[1], XM_005251754.1:c.5278CAA[1], XM_017014353.3:c.5278CAA[1], XM_017014353.2:c.5278CAA[1], XM_017014353.1:c.5278CAA[1], XM_006716982.2:c.5278CAA[1], XM_006716982.1:c.5278CAA[1], XM_006716983.2:c.5278CAA[1], XM_006716983.1:c.5278CAA[1], XM_006716985.2:c.5278CAA[1], XM_006716985.1:c.5278CAA[1], XM_006716986.2:c.5278CAA[1], XM_006716986.1:c.5278CAA[1], XM_005251745.2:c.5278CAA[1], XM_005251745.1:c.5278CAA[1], XM_005251746.2:c.5278CAA[1], XM_005251746.1:c.5278CAA[1], XM_005251748.2:c.5278CAA[1], XM_005251748.1:c.5278CAA[1], XM_005251750.2:c.5278CAA[1], XM_005251750.1:c.5278CAA[1], XM_017014346.2:c.5278CAA[1], XM_017014346.1:c.5278CAA[1], XM_011518327.2:c.5278CAA[1], XM_011518327.1:c.5278CAA[1], XM_017014348.2:c.5278CAA[1], XM_017014348.1:c.5278CAA[1], XM_017014349.2:c.5278CAA[1], XM_017014349.1:c.5278CAA[1], XM_005251751.2:c.5278CAA[1], XM_005251751.1:c.5278CAA[1], XM_017014351.2:c.5278CAA[1], XM_017014351.1:c.5278CAA[1], XM_017014352.2:c.5278CAA[1], XM_017014352.1:c.5278CAA[1], NM_001308048.2:c.5278CAA[1], NM_001308048.1:c.5278CAA[1], NM_001308047.2:c.5278CAA[1], NM_001308047.1:c.5278CAA[1], NR_131751.2:n.5226CAA[1], NR_131751.1:n.5199CAA[1], XM_047422880.1:c.5278CAA[1], XM_047422885.1:c.4750CAA[1], XM_047422883.1:c.5278CAA[1], XM_047422884.1:c.5278CAA[1], XM_047422876.1:c.5278CAA[1], XM_047422878.1:c.5278CAA[1], XM_047422879.1:c.5278CAA[1], XM_047422881.1:c.5278CAA[1], XM_047422882.1:c.5278CAA[1], XP_006717047.1:p.Gln1761del, XP_011516628.1:p.Gln1761del, XP_011516630.1:p.Gln1761del, XP_011516625.1:p.Gln1761del, NP_056040.2:p.Gln1761del, XP_005251811.1:p.Gln1761del, XP_016869842.1:p.Gln1761del, XP_006717045.1:p.Gln1761del, XP_006717046.1:p.Gln1761del, XP_006717048.1:p.Gln1761del, XP_006717049.1:p.Gln1761del, XP_005251802.1:p.Gln1761del, XP_005251803.1:p.Gln1761del, XP_005251805.1:p.Gln1761del, XP_005251807.1:p.Gln1761del, XP_016869835.1:p.Gln1761del, XP_011516629.1:p.Gln1761del, XP_016869837.1:p.Gln1761del, XP_016869838.1:p.Gln1761del, XP_005251808.1:p.Gln1761del, XP_016869840.1:p.Gln1761del, XP_016869841.1:p.Gln1761del, NP_001294977.1:p.Gln1761del, NP_001294976.1:p.Gln1761del, XP_047278836.1:p.Gln1761del, XP_047278841.1:p.Gln1585del, XP_047278839.1:p.Gln1761del, XP_047278840.1:p.Gln1761del, XP_047278832.1:p.Gln1761del, XP_047278834.1:p.Gln1761del, XP_047278835.1:p.Gln1761del, XP_047278837.1:p.Gln1761del, XP_047278838.1:p.Gln1761del

    2.

    rs1490595668 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:76850632 (GRCh38)
      9:79465548 (GRCh37)
      Canonical SPDI:
      NC_000009.12:76850631:G:A
      Gene:
      PRUNE2 (Varview)
      Functional Consequence:
      intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.76850632G>A, NC_000009.11:g.79465548G>A, XM_006716984.3:c.175C>T, XM_006716984.2:c.175C>T, XM_006716984.1:c.175C>T, XM_011518326.3:c.175C>T, XM_011518326.2:c.175C>T, XM_011518326.1:c.175C>T, XM_011518328.3:c.175C>T, XM_011518328.2:c.175C>T, XM_011518328.1:c.175C>T, XM_011518323.3:c.175C>T, XM_011518323.2:c.175C>T, XM_011518323.1:c.175C>T, NM_015225.3:c.175C>T, NM_015225.2:c.175C>T, XM_005251754.3:c.175C>T, XM_005251754.2:c.175C>T, XM_005251754.1:c.175C>T, XM_017014353.3:c.175C>T, XM_017014353.2:c.175C>T, XM_017014353.1:c.175C>T, XM_006716982.2:c.175C>T, XM_006716982.1:c.175C>T, XM_006716983.2:c.175C>T, XM_006716983.1:c.175C>T, XM_006716985.2:c.175C>T, XM_006716985.1:c.175C>T, XM_006716986.2:c.175C>T, XM_006716986.1:c.175C>T, XM_005251745.2:c.175C>T, XM_005251745.1:c.175C>T, XM_005251746.2:c.175C>T, XM_005251746.1:c.175C>T, XM_005251748.2:c.175C>T, XM_005251748.1:c.175C>T, XM_005251750.2:c.175C>T, XM_005251750.1:c.175C>T, XM_017014346.2:c.175C>T, XM_017014346.1:c.175C>T, XM_011518327.2:c.175C>T, XM_011518327.1:c.175C>T, XM_017014348.2:c.175C>T, XM_017014348.1:c.175C>T, XM_017014349.2:c.175C>T, XM_017014349.1:c.175C>T, XM_005251751.2:c.175C>T, XM_005251751.1:c.175C>T, XM_017014351.2:c.175C>T, XM_017014351.1:c.175C>T, XM_017014352.2:c.175C>T, XM_017014352.1:c.175C>T, NM_001308048.2:c.175C>T, NM_001308048.1:c.175C>T, NM_001308047.2:c.175C>T, NM_001308047.1:c.175C>T, NM_138818.2:c.175C>T, XM_047422880.1:c.175C>T, XM_047422885.1:c.-354C>T, XM_047422883.1:c.175C>T, XM_047422884.1:c.175C>T, XM_047422876.1:c.175C>T, XM_047422878.1:c.175C>T, XM_047422879.1:c.175C>T, XM_047422881.1:c.175C>T, XM_047422882.1:c.175C>T, NM_138818.1:c.175C>T

      3.

      rs1490272745 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:76826604 (GRCh38)
        9:79441520 (GRCh37)
        Canonical SPDI:
        NC_000009.12:76826603:G:A
        Gene:
        PRUNE2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000009.12:g.76826604G>A, NC_000009.11:g.79441520G>A, XM_006716984.3:c.637C>T, XM_006716984.2:c.637C>T, XM_006716984.1:c.637C>T, XM_011518326.3:c.637C>T, XM_011518326.2:c.637C>T, XM_011518326.1:c.637C>T, XM_011518328.3:c.637C>T, XM_011518328.2:c.637C>T, XM_011518328.1:c.637C>T, XM_011518323.3:c.637C>T, XM_011518323.2:c.637C>T, XM_011518323.1:c.637C>T, NM_015225.3:c.637C>T, NM_015225.2:c.637C>T, XM_005251754.3:c.637C>T, XM_005251754.2:c.637C>T, XM_005251754.1:c.637C>T, XM_017014353.3:c.637C>T, XM_017014353.2:c.637C>T, XM_017014353.1:c.637C>T, XM_006716982.2:c.637C>T, XM_006716982.1:c.637C>T, XM_006716983.2:c.637C>T, XM_006716983.1:c.637C>T, XM_006716985.2:c.637C>T, XM_006716985.1:c.637C>T, XM_006716986.2:c.637C>T, XM_006716986.1:c.637C>T, XM_005251745.2:c.637C>T, XM_005251745.1:c.637C>T, XM_005251746.2:c.637C>T, XM_005251746.1:c.637C>T, XM_005251748.2:c.637C>T, XM_005251748.1:c.637C>T, XM_005251750.2:c.637C>T, XM_005251750.1:c.637C>T, XM_017014346.2:c.637C>T, XM_017014346.1:c.637C>T, XM_011518327.2:c.637C>T, XM_011518327.1:c.637C>T, XM_017014348.2:c.637C>T, XM_017014348.1:c.637C>T, XM_017014349.2:c.637C>T, XM_017014349.1:c.637C>T, XM_005251751.2:c.637C>T, XM_005251751.1:c.637C>T, XM_017014351.2:c.637C>T, XM_017014351.1:c.637C>T, XM_017014352.2:c.637C>T, XM_017014352.1:c.637C>T, NM_001308048.2:c.637C>T, NM_001308048.1:c.637C>T, NM_001308047.2:c.637C>T, NM_001308047.1:c.637C>T, NR_131751.2:n.585C>T, NR_131751.1:n.558C>T, NM_138818.2:c.637C>T, XM_047422880.1:c.637C>T, XM_047422885.1:c.109C>T, XM_047422883.1:c.637C>T, XM_047422884.1:c.637C>T, XM_047422876.1:c.637C>T, XM_047422878.1:c.637C>T, XM_047422879.1:c.637C>T, XM_047422881.1:c.637C>T, XM_047422882.1:c.637C>T, NM_138818.1:c.637C>T, XP_006717047.1:p.Gln213Ter, XP_011516628.1:p.Gln213Ter, XP_011516630.1:p.Gln213Ter, XP_011516625.1:p.Gln213Ter, NP_056040.2:p.Gln213Ter, XP_005251811.1:p.Gln213Ter, XP_016869842.1:p.Gln213Ter, XP_006717045.1:p.Gln213Ter, XP_006717046.1:p.Gln213Ter, XP_006717048.1:p.Gln213Ter, XP_006717049.1:p.Gln213Ter, XP_005251802.1:p.Gln213Ter, XP_005251803.1:p.Gln213Ter, XP_005251805.1:p.Gln213Ter, XP_005251807.1:p.Gln213Ter, XP_016869835.1:p.Gln213Ter, XP_011516629.1:p.Gln213Ter, XP_016869837.1:p.Gln213Ter, XP_016869838.1:p.Gln213Ter, XP_005251808.1:p.Gln213Ter, XP_016869840.1:p.Gln213Ter, XP_016869841.1:p.Gln213Ter, NP_001294977.1:p.Gln213Ter, NP_001294976.1:p.Gln213Ter, XP_047278836.1:p.Gln213Ter, XP_047278841.1:p.Gln37Ter, XP_047278839.1:p.Gln213Ter, XP_047278840.1:p.Gln213Ter, XP_047278832.1:p.Gln213Ter, XP_047278834.1:p.Gln213Ter, XP_047278835.1:p.Gln213Ter, XP_047278837.1:p.Gln213Ter, XP_047278838.1:p.Gln213Ter

        4.

        rs1489658924 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          9:76704097 (GRCh38)
          9:79319013 (GRCh37)
          Canonical SPDI:
          NC_000009.12:76704096:C:A
          Gene:
          PRUNE2 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000009.12:g.76704097C>A, NC_000009.11:g.79319013C>A, XM_006716984.3:c.7516G>T, XM_006716984.2:c.7516G>T, XM_006716984.1:c.7516G>T, XM_011518326.3:c.7516G>T, XM_011518326.2:c.7516G>T, XM_011518326.1:c.7516G>T, XM_011518328.3:c.7516G>T, XM_011518328.2:c.7516G>T, XM_011518328.1:c.7516G>T, XM_011518323.3:c.7516G>T, XM_011518323.2:c.7516G>T, XM_011518323.1:c.7516G>T, NM_015225.3:c.7516G>T, NM_015225.2:c.7516G>T, XM_005251754.3:c.7516G>T, XM_005251754.2:c.7516G>T, XM_005251754.1:c.7516G>T, XM_017014353.3:c.7516G>T, XM_017014353.2:c.7516G>T, XM_017014353.1:c.7516G>T, XM_006716982.2:c.7516G>T, XM_006716982.1:c.7516G>T, XM_006716983.2:c.7516G>T, XM_006716983.1:c.7516G>T, XM_006716985.2:c.7516G>T, XM_006716985.1:c.7516G>T, XM_006716986.2:c.7516G>T, XM_006716986.1:c.7516G>T, XM_005251745.2:c.7516G>T, XM_005251745.1:c.7516G>T, XM_005251746.2:c.7516G>T, XM_005251746.1:c.7516G>T, XM_005251748.2:c.7516G>T, XM_005251748.1:c.7516G>T, XM_005251750.2:c.7516G>T, XM_005251750.1:c.7516G>T, XM_017014346.2:c.7516G>T, XM_017014346.1:c.7516G>T, XM_011518327.2:c.7516G>T, XM_011518327.1:c.7516G>T, XM_017014348.2:c.7516G>T, XM_017014348.1:c.7516G>T, XM_017014349.2:c.7516G>T, XM_017014349.1:c.7516G>T, XM_005251751.2:c.7516G>T, XM_005251751.1:c.7516G>T, XM_017014351.2:c.7516G>T, XM_017014351.1:c.7516G>T, XM_017014352.2:c.7516G>T, XM_017014352.1:c.7516G>T, NM_001308048.2:c.7516G>T, NM_001308048.1:c.7516G>T, NM_001308047.2:c.7516G>T, NM_001308047.1:c.7516G>T, NR_131751.2:n.7464G>T, NR_131751.1:n.7437G>T, XM_047422880.1:c.7516G>T, XM_047422885.1:c.6988G>T, XM_047422883.1:c.7516G>T, XM_047422884.1:c.7516G>T, XM_047422876.1:c.7516G>T, XM_047422878.1:c.7516G>T, XM_047422879.1:c.7516G>T, XM_047422881.1:c.7516G>T, XM_047422882.1:c.7516G>T, XP_006717047.1:p.Ala2506Ser, XP_011516628.1:p.Ala2506Ser, XP_011516630.1:p.Ala2506Ser, XP_011516625.1:p.Ala2506Ser, NP_056040.2:p.Ala2506Ser, XP_005251811.1:p.Ala2506Ser, XP_016869842.1:p.Ala2506Ser, XP_006717045.1:p.Ala2506Ser, XP_006717046.1:p.Ala2506Ser, XP_006717048.1:p.Ala2506Ser, XP_006717049.1:p.Ala2506Ser, XP_005251802.1:p.Ala2506Ser, XP_005251803.1:p.Ala2506Ser, XP_005251805.1:p.Ala2506Ser, XP_005251807.1:p.Ala2506Ser, XP_016869835.1:p.Ala2506Ser, XP_011516629.1:p.Ala2506Ser, XP_016869837.1:p.Ala2506Ser, XP_016869838.1:p.Ala2506Ser, XP_005251808.1:p.Ala2506Ser, XP_016869840.1:p.Ala2506Ser, XP_016869841.1:p.Ala2506Ser, NP_001294977.1:p.Ala2506Ser, NP_001294976.1:p.Ala2506Ser, XP_047278836.1:p.Ala2506Ser, XP_047278841.1:p.Ala2330Ser, XP_047278839.1:p.Ala2506Ser, XP_047278840.1:p.Ala2506Ser, XP_047278832.1:p.Ala2506Ser, XP_047278834.1:p.Ala2506Ser, XP_047278835.1:p.Ala2506Ser, XP_047278837.1:p.Ala2506Ser, XP_047278838.1:p.Ala2506Ser

          5.

          rs1489390318 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:76709256 (GRCh38)
            9:79324172 (GRCh37)
            Canonical SPDI:
            NC_000009.12:76709255:C:T
            Gene:
            PRUNE2 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000009.12:g.76709256C>T, NC_000009.11:g.79324172C>T, XM_006716984.3:c.3018G>A, XM_006716984.2:c.3018G>A, XM_006716984.1:c.3018G>A, XM_011518326.3:c.3018G>A, XM_011518326.2:c.3018G>A, XM_011518326.1:c.3018G>A, XM_011518328.3:c.3018G>A, XM_011518328.2:c.3018G>A, XM_011518328.1:c.3018G>A, XM_011518323.3:c.3018G>A, XM_011518323.2:c.3018G>A, XM_011518323.1:c.3018G>A, NM_015225.3:c.3018G>A, NM_015225.2:c.3018G>A, XM_005251754.3:c.3018G>A, XM_005251754.2:c.3018G>A, XM_005251754.1:c.3018G>A, XM_017014353.3:c.3018G>A, XM_017014353.2:c.3018G>A, XM_017014353.1:c.3018G>A, XM_006716982.2:c.3018G>A, XM_006716982.1:c.3018G>A, XM_006716983.2:c.3018G>A, XM_006716983.1:c.3018G>A, XM_006716985.2:c.3018G>A, XM_006716985.1:c.3018G>A, XM_006716986.2:c.3018G>A, XM_006716986.1:c.3018G>A, XM_005251745.2:c.3018G>A, XM_005251745.1:c.3018G>A, XM_005251746.2:c.3018G>A, XM_005251746.1:c.3018G>A, XM_005251748.2:c.3018G>A, XM_005251748.1:c.3018G>A, XM_005251750.2:c.3018G>A, XM_005251750.1:c.3018G>A, XM_017014346.2:c.3018G>A, XM_017014346.1:c.3018G>A, XM_011518327.2:c.3018G>A, XM_011518327.1:c.3018G>A, XM_017014348.2:c.3018G>A, XM_017014348.1:c.3018G>A, XM_017014349.2:c.3018G>A, XM_017014349.1:c.3018G>A, XM_005251751.2:c.3018G>A, XM_005251751.1:c.3018G>A, XM_017014351.2:c.3018G>A, XM_017014351.1:c.3018G>A, XM_017014352.2:c.3018G>A, XM_017014352.1:c.3018G>A, NM_001308048.2:c.3018G>A, NM_001308048.1:c.3018G>A, NM_001308047.2:c.3018G>A, NM_001308047.1:c.3018G>A, NR_131751.2:n.2966G>A, NR_131751.1:n.2939G>A, XM_047422880.1:c.3018G>A, XM_047422885.1:c.2490G>A, XM_047422883.1:c.3018G>A, XM_047422884.1:c.3018G>A, XM_047422876.1:c.3018G>A, XM_047422878.1:c.3018G>A, XM_047422879.1:c.3018G>A, XM_047422881.1:c.3018G>A, XM_047422882.1:c.3018G>A

            6.

            rs1488434694 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              9:76709722 (GRCh38)
              9:79324638 (GRCh37)
              Canonical SPDI:
              NC_000009.12:76709721:T:C,NC_000009.12:76709721:T:G
              Gene:
              PRUNE2 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              G=0./0 (KOREAN)
              C=0.000004/1 (TOPMED)
              G=0.000546/1 (Korea1K)
              HGVS:
              NC_000009.12:g.76709722T>C, NC_000009.12:g.76709722T>G, NC_000009.11:g.79324638T>C, NC_000009.11:g.79324638T>G, XM_006716984.3:c.2552A>G, XM_006716984.3:c.2552A>C, XM_006716984.2:c.2552A>G, XM_006716984.2:c.2552A>C, XM_006716984.1:c.2552A>G, XM_006716984.1:c.2552A>C, XM_011518326.3:c.2552A>G, XM_011518326.3:c.2552A>C, XM_011518326.2:c.2552A>G, XM_011518326.2:c.2552A>C, XM_011518326.1:c.2552A>G, XM_011518326.1:c.2552A>C, XM_011518328.3:c.2552A>G, XM_011518328.3:c.2552A>C, XM_011518328.2:c.2552A>G, XM_011518328.2:c.2552A>C, XM_011518328.1:c.2552A>G, XM_011518328.1:c.2552A>C, XM_011518323.3:c.2552A>G, XM_011518323.3:c.2552A>C, XM_011518323.2:c.2552A>G, XM_011518323.2:c.2552A>C, XM_011518323.1:c.2552A>G, XM_011518323.1:c.2552A>C, NM_015225.3:c.2552A>G, NM_015225.3:c.2552A>C, NM_015225.2:c.2552A>G, NM_015225.2:c.2552A>C, XM_005251754.3:c.2552A>G, XM_005251754.3:c.2552A>C, XM_005251754.2:c.2552A>G, XM_005251754.2:c.2552A>C, XM_005251754.1:c.2552A>G, XM_005251754.1:c.2552A>C, XM_017014353.3:c.2552A>G, XM_017014353.3:c.2552A>C, XM_017014353.2:c.2552A>G, XM_017014353.2:c.2552A>C, XM_017014353.1:c.2552A>G, XM_017014353.1:c.2552A>C, XM_006716982.2:c.2552A>G, XM_006716982.2:c.2552A>C, XM_006716982.1:c.2552A>G, XM_006716982.1:c.2552A>C, XM_006716983.2:c.2552A>G, XM_006716983.2:c.2552A>C, XM_006716983.1:c.2552A>G, XM_006716983.1:c.2552A>C, XM_006716985.2:c.2552A>G, XM_006716985.2:c.2552A>C, XM_006716985.1:c.2552A>G, XM_006716985.1:c.2552A>C, XM_006716986.2:c.2552A>G, XM_006716986.2:c.2552A>C, XM_006716986.1:c.2552A>G, XM_006716986.1:c.2552A>C, XM_005251745.2:c.2552A>G, XM_005251745.2:c.2552A>C, XM_005251745.1:c.2552A>G, XM_005251745.1:c.2552A>C, XM_005251746.2:c.2552A>G, XM_005251746.2:c.2552A>C, XM_005251746.1:c.2552A>G, XM_005251746.1:c.2552A>C, XM_005251748.2:c.2552A>G, XM_005251748.2:c.2552A>C, XM_005251748.1:c.2552A>G, XM_005251748.1:c.2552A>C, XM_005251750.2:c.2552A>G, XM_005251750.2:c.2552A>C, XM_005251750.1:c.2552A>G, XM_005251750.1:c.2552A>C, XM_017014346.2:c.2552A>G, XM_017014346.2:c.2552A>C, XM_017014346.1:c.2552A>G, XM_017014346.1:c.2552A>C, XM_011518327.2:c.2552A>G, XM_011518327.2:c.2552A>C, XM_011518327.1:c.2552A>G, XM_011518327.1:c.2552A>C, XM_017014348.2:c.2552A>G, XM_017014348.2:c.2552A>C, XM_017014348.1:c.2552A>G, XM_017014348.1:c.2552A>C, XM_017014349.2:c.2552A>G, XM_017014349.2:c.2552A>C, XM_017014349.1:c.2552A>G, XM_017014349.1:c.2552A>C, XM_005251751.2:c.2552A>G, XM_005251751.2:c.2552A>C, XM_005251751.1:c.2552A>G, XM_005251751.1:c.2552A>C, XM_017014351.2:c.2552A>G, XM_017014351.2:c.2552A>C, XM_017014351.1:c.2552A>G, XM_017014351.1:c.2552A>C, XM_017014352.2:c.2552A>G, XM_017014352.2:c.2552A>C, XM_017014352.1:c.2552A>G, XM_017014352.1:c.2552A>C, NM_001308048.2:c.2552A>G, NM_001308048.2:c.2552A>C, NM_001308048.1:c.2552A>G, NM_001308048.1:c.2552A>C, NM_001308047.2:c.2552A>G, NM_001308047.2:c.2552A>C, NM_001308047.1:c.2552A>G, NM_001308047.1:c.2552A>C, NR_131751.2:n.2500A>G, NR_131751.2:n.2500A>C, NR_131751.1:n.2473A>G, NR_131751.1:n.2473A>C, XM_047422880.1:c.2552A>G, XM_047422880.1:c.2552A>C, XM_047422885.1:c.2024A>G, XM_047422885.1:c.2024A>C, XM_047422883.1:c.2552A>G, XM_047422883.1:c.2552A>C, XM_047422884.1:c.2552A>G, XM_047422884.1:c.2552A>C, XM_047422876.1:c.2552A>G, XM_047422876.1:c.2552A>C, XM_047422878.1:c.2552A>G, XM_047422878.1:c.2552A>C, XM_047422879.1:c.2552A>G, XM_047422879.1:c.2552A>C, XM_047422881.1:c.2552A>G, XM_047422881.1:c.2552A>C, XM_047422882.1:c.2552A>G, XM_047422882.1:c.2552A>C, XP_006717047.1:p.Asn851Ser, XP_006717047.1:p.Asn851Thr, XP_011516628.1:p.Asn851Ser, XP_011516628.1:p.Asn851Thr, XP_011516630.1:p.Asn851Ser, XP_011516630.1:p.Asn851Thr, XP_011516625.1:p.Asn851Ser, XP_011516625.1:p.Asn851Thr, NP_056040.2:p.Asn851Ser, NP_056040.2:p.Asn851Thr, XP_005251811.1:p.Asn851Ser, XP_005251811.1:p.Asn851Thr, XP_016869842.1:p.Asn851Ser, XP_016869842.1:p.Asn851Thr, XP_006717045.1:p.Asn851Ser, XP_006717045.1:p.Asn851Thr, XP_006717046.1:p.Asn851Ser, XP_006717046.1:p.Asn851Thr, XP_006717048.1:p.Asn851Ser, XP_006717048.1:p.Asn851Thr, XP_006717049.1:p.Asn851Ser, XP_006717049.1:p.Asn851Thr, XP_005251802.1:p.Asn851Ser, XP_005251802.1:p.Asn851Thr, XP_005251803.1:p.Asn851Ser, XP_005251803.1:p.Asn851Thr, XP_005251805.1:p.Asn851Ser, XP_005251805.1:p.Asn851Thr, XP_005251807.1:p.Asn851Ser, XP_005251807.1:p.Asn851Thr, XP_016869835.1:p.Asn851Ser, XP_016869835.1:p.Asn851Thr, XP_011516629.1:p.Asn851Ser, XP_011516629.1:p.Asn851Thr, XP_016869837.1:p.Asn851Ser, XP_016869837.1:p.Asn851Thr, XP_016869838.1:p.Asn851Ser, XP_016869838.1:p.Asn851Thr, XP_005251808.1:p.Asn851Ser, XP_005251808.1:p.Asn851Thr, XP_016869840.1:p.Asn851Ser, XP_016869840.1:p.Asn851Thr, XP_016869841.1:p.Asn851Ser, XP_016869841.1:p.Asn851Thr, NP_001294977.1:p.Asn851Ser, NP_001294977.1:p.Asn851Thr, NP_001294976.1:p.Asn851Ser, NP_001294976.1:p.Asn851Thr, XP_047278836.1:p.Asn851Ser, XP_047278836.1:p.Asn851Thr, XP_047278841.1:p.Asn675Ser, XP_047278841.1:p.Asn675Thr, XP_047278839.1:p.Asn851Ser, XP_047278839.1:p.Asn851Thr, XP_047278840.1:p.Asn851Ser, XP_047278840.1:p.Asn851Thr, XP_047278832.1:p.Asn851Ser, XP_047278832.1:p.Asn851Thr, XP_047278834.1:p.Asn851Ser, XP_047278834.1:p.Asn851Thr, XP_047278835.1:p.Asn851Ser, XP_047278835.1:p.Asn851Thr, XP_047278837.1:p.Asn851Ser, XP_047278837.1:p.Asn851Thr, XP_047278838.1:p.Asn851Ser, XP_047278838.1:p.Asn851Thr

              7.

              rs1488328973 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:76707103 (GRCh38)
                9:79322019 (GRCh37)
                Canonical SPDI:
                NC_000009.12:76707102:T:C
                Gene:
                PRUNE2 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                HGVS:
                NC_000009.12:g.76707103T>C, NC_000009.11:g.79322019T>C, XM_006716984.3:c.5171A>G, XM_006716984.2:c.5171A>G, XM_006716984.1:c.5171A>G, XM_011518326.3:c.5171A>G, XM_011518326.2:c.5171A>G, XM_011518326.1:c.5171A>G, XM_011518328.3:c.5171A>G, XM_011518328.2:c.5171A>G, XM_011518328.1:c.5171A>G, XM_011518323.3:c.5171A>G, XM_011518323.2:c.5171A>G, XM_011518323.1:c.5171A>G, NM_015225.3:c.5171A>G, NM_015225.2:c.5171A>G, XM_005251754.3:c.5171A>G, XM_005251754.2:c.5171A>G, XM_005251754.1:c.5171A>G, XM_017014353.3:c.5171A>G, XM_017014353.2:c.5171A>G, XM_017014353.1:c.5171A>G, XM_006716982.2:c.5171A>G, XM_006716982.1:c.5171A>G, XM_006716983.2:c.5171A>G, XM_006716983.1:c.5171A>G, XM_006716985.2:c.5171A>G, XM_006716985.1:c.5171A>G, XM_006716986.2:c.5171A>G, XM_006716986.1:c.5171A>G, XM_005251745.2:c.5171A>G, XM_005251745.1:c.5171A>G, XM_005251746.2:c.5171A>G, XM_005251746.1:c.5171A>G, XM_005251748.2:c.5171A>G, XM_005251748.1:c.5171A>G, XM_005251750.2:c.5171A>G, XM_005251750.1:c.5171A>G, XM_017014346.2:c.5171A>G, XM_017014346.1:c.5171A>G, XM_011518327.2:c.5171A>G, XM_011518327.1:c.5171A>G, XM_017014348.2:c.5171A>G, XM_017014348.1:c.5171A>G, XM_017014349.2:c.5171A>G, XM_017014349.1:c.5171A>G, XM_005251751.2:c.5171A>G, XM_005251751.1:c.5171A>G, XM_017014351.2:c.5171A>G, XM_017014351.1:c.5171A>G, XM_017014352.2:c.5171A>G, XM_017014352.1:c.5171A>G, NM_001308048.2:c.5171A>G, NM_001308048.1:c.5171A>G, NM_001308047.2:c.5171A>G, NM_001308047.1:c.5171A>G, NR_131751.2:n.5119A>G, NR_131751.1:n.5092A>G, XM_047422880.1:c.5171A>G, XM_047422885.1:c.4643A>G, XM_047422883.1:c.5171A>G, XM_047422884.1:c.5171A>G, XM_047422876.1:c.5171A>G, XM_047422878.1:c.5171A>G, XM_047422879.1:c.5171A>G, XM_047422881.1:c.5171A>G, XM_047422882.1:c.5171A>G, XP_006717047.1:p.Asn1724Ser, XP_011516628.1:p.Asn1724Ser, XP_011516630.1:p.Asn1724Ser, XP_011516625.1:p.Asn1724Ser, NP_056040.2:p.Asn1724Ser, XP_005251811.1:p.Asn1724Ser, XP_016869842.1:p.Asn1724Ser, XP_006717045.1:p.Asn1724Ser, XP_006717046.1:p.Asn1724Ser, XP_006717048.1:p.Asn1724Ser, XP_006717049.1:p.Asn1724Ser, XP_005251802.1:p.Asn1724Ser, XP_005251803.1:p.Asn1724Ser, XP_005251805.1:p.Asn1724Ser, XP_005251807.1:p.Asn1724Ser, XP_016869835.1:p.Asn1724Ser, XP_011516629.1:p.Asn1724Ser, XP_016869837.1:p.Asn1724Ser, XP_016869838.1:p.Asn1724Ser, XP_005251808.1:p.Asn1724Ser, XP_016869840.1:p.Asn1724Ser, XP_016869841.1:p.Asn1724Ser, NP_001294977.1:p.Asn1724Ser, NP_001294976.1:p.Asn1724Ser, XP_047278836.1:p.Asn1724Ser, XP_047278841.1:p.Asn1548Ser, XP_047278839.1:p.Asn1724Ser, XP_047278840.1:p.Asn1724Ser, XP_047278832.1:p.Asn1724Ser, XP_047278834.1:p.Asn1724Ser, XP_047278835.1:p.Asn1724Ser, XP_047278837.1:p.Asn1724Ser, XP_047278838.1:p.Asn1724Ser

                8.

                rs1488182791 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:76704923 (GRCh38)
                  9:79319839 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:76704922:G:A
                  Gene:
                  PRUNE2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000047/1 (ALFA)
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000009.12:g.76704923G>A, NC_000009.11:g.79319839G>A, XM_006716984.3:c.7351C>T, XM_006716984.2:c.7351C>T, XM_006716984.1:c.7351C>T, XM_011518326.3:c.7351C>T, XM_011518326.2:c.7351C>T, XM_011518326.1:c.7351C>T, XM_011518328.3:c.7351C>T, XM_011518328.2:c.7351C>T, XM_011518328.1:c.7351C>T, XM_011518323.3:c.7351C>T, XM_011518323.2:c.7351C>T, XM_011518323.1:c.7351C>T, NM_015225.3:c.7351C>T, NM_015225.2:c.7351C>T, XM_005251754.3:c.7351C>T, XM_005251754.2:c.7351C>T, XM_005251754.1:c.7351C>T, XM_017014353.3:c.7351C>T, XM_017014353.2:c.7351C>T, XM_017014353.1:c.7351C>T, XM_006716982.2:c.7351C>T, XM_006716982.1:c.7351C>T, XM_006716983.2:c.7351C>T, XM_006716983.1:c.7351C>T, XM_006716985.2:c.7351C>T, XM_006716985.1:c.7351C>T, XM_006716986.2:c.7351C>T, XM_006716986.1:c.7351C>T, XM_005251745.2:c.7351C>T, XM_005251745.1:c.7351C>T, XM_005251746.2:c.7351C>T, XM_005251746.1:c.7351C>T, XM_005251748.2:c.7351C>T, XM_005251748.1:c.7351C>T, XM_005251750.2:c.7351C>T, XM_005251750.1:c.7351C>T, XM_017014346.2:c.7351C>T, XM_017014346.1:c.7351C>T, XM_011518327.2:c.7351C>T, XM_011518327.1:c.7351C>T, XM_017014348.2:c.7351C>T, XM_017014348.1:c.7351C>T, XM_017014349.2:c.7351C>T, XM_017014349.1:c.7351C>T, XM_005251751.2:c.7351C>T, XM_005251751.1:c.7351C>T, XM_017014351.2:c.7351C>T, XM_017014351.1:c.7351C>T, XM_017014352.2:c.7351C>T, XM_017014352.1:c.7351C>T, NM_001308048.2:c.7351C>T, NM_001308048.1:c.7351C>T, NM_001308047.2:c.7351C>T, NM_001308047.1:c.7351C>T, NR_131751.2:n.7299C>T, NR_131751.1:n.7272C>T, XM_047422880.1:c.7351C>T, XM_047422885.1:c.6823C>T, XM_047422883.1:c.7351C>T, XM_047422884.1:c.7351C>T, XM_047422876.1:c.7351C>T, XM_047422878.1:c.7351C>T, XM_047422879.1:c.7351C>T, XM_047422881.1:c.7351C>T, XM_047422882.1:c.7351C>T, XP_006717047.1:p.Pro2451Ser, XP_011516628.1:p.Pro2451Ser, XP_011516630.1:p.Pro2451Ser, XP_011516625.1:p.Pro2451Ser, NP_056040.2:p.Pro2451Ser, XP_005251811.1:p.Pro2451Ser, XP_016869842.1:p.Pro2451Ser, XP_006717045.1:p.Pro2451Ser, XP_006717046.1:p.Pro2451Ser, XP_006717048.1:p.Pro2451Ser, XP_006717049.1:p.Pro2451Ser, XP_005251802.1:p.Pro2451Ser, XP_005251803.1:p.Pro2451Ser, XP_005251805.1:p.Pro2451Ser, XP_005251807.1:p.Pro2451Ser, XP_016869835.1:p.Pro2451Ser, XP_011516629.1:p.Pro2451Ser, XP_016869837.1:p.Pro2451Ser, XP_016869838.1:p.Pro2451Ser, XP_005251808.1:p.Pro2451Ser, XP_016869840.1:p.Pro2451Ser, XP_016869841.1:p.Pro2451Ser, NP_001294977.1:p.Pro2451Ser, NP_001294976.1:p.Pro2451Ser, XP_047278836.1:p.Pro2451Ser, XP_047278841.1:p.Pro2275Ser, XP_047278839.1:p.Pro2451Ser, XP_047278840.1:p.Pro2451Ser, XP_047278832.1:p.Pro2451Ser, XP_047278834.1:p.Pro2451Ser, XP_047278835.1:p.Pro2451Ser, XP_047278837.1:p.Pro2451Ser, XP_047278838.1:p.Pro2451Ser

                  9.

                  rs1487604134 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:76708196 (GRCh38)
                    9:79323112 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:76708195:G:A
                    Gene:
                    PRUNE2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.76708196G>A, NC_000009.11:g.79323112G>A, XM_006716984.3:c.4078C>T, XM_006716984.2:c.4078C>T, XM_006716984.1:c.4078C>T, XM_011518326.3:c.4078C>T, XM_011518326.2:c.4078C>T, XM_011518326.1:c.4078C>T, XM_011518328.3:c.4078C>T, XM_011518328.2:c.4078C>T, XM_011518328.1:c.4078C>T, XM_011518323.3:c.4078C>T, XM_011518323.2:c.4078C>T, XM_011518323.1:c.4078C>T, NM_015225.3:c.4078C>T, NM_015225.2:c.4078C>T, XM_005251754.3:c.4078C>T, XM_005251754.2:c.4078C>T, XM_005251754.1:c.4078C>T, XM_017014353.3:c.4078C>T, XM_017014353.2:c.4078C>T, XM_017014353.1:c.4078C>T, XM_006716982.2:c.4078C>T, XM_006716982.1:c.4078C>T, XM_006716983.2:c.4078C>T, XM_006716983.1:c.4078C>T, XM_006716985.2:c.4078C>T, XM_006716985.1:c.4078C>T, XM_006716986.2:c.4078C>T, XM_006716986.1:c.4078C>T, XM_005251745.2:c.4078C>T, XM_005251745.1:c.4078C>T, XM_005251746.2:c.4078C>T, XM_005251746.1:c.4078C>T, XM_005251748.2:c.4078C>T, XM_005251748.1:c.4078C>T, XM_005251750.2:c.4078C>T, XM_005251750.1:c.4078C>T, XM_017014346.2:c.4078C>T, XM_017014346.1:c.4078C>T, XM_011518327.2:c.4078C>T, XM_011518327.1:c.4078C>T, XM_017014348.2:c.4078C>T, XM_017014348.1:c.4078C>T, XM_017014349.2:c.4078C>T, XM_017014349.1:c.4078C>T, XM_005251751.2:c.4078C>T, XM_005251751.1:c.4078C>T, XM_017014351.2:c.4078C>T, XM_017014351.1:c.4078C>T, XM_017014352.2:c.4078C>T, XM_017014352.1:c.4078C>T, NM_001308048.2:c.4078C>T, NM_001308048.1:c.4078C>T, NM_001308047.2:c.4078C>T, NM_001308047.1:c.4078C>T, NR_131751.2:n.4026C>T, NR_131751.1:n.3999C>T, XM_047422880.1:c.4078C>T, XM_047422885.1:c.3550C>T, XM_047422883.1:c.4078C>T, XM_047422884.1:c.4078C>T, XM_047422876.1:c.4078C>T, XM_047422878.1:c.4078C>T, XM_047422879.1:c.4078C>T, XM_047422881.1:c.4078C>T, XM_047422882.1:c.4078C>T, XP_006717047.1:p.Gln1360Ter, XP_011516628.1:p.Gln1360Ter, XP_011516630.1:p.Gln1360Ter, XP_011516625.1:p.Gln1360Ter, NP_056040.2:p.Gln1360Ter, XP_005251811.1:p.Gln1360Ter, XP_016869842.1:p.Gln1360Ter, XP_006717045.1:p.Gln1360Ter, XP_006717046.1:p.Gln1360Ter, XP_006717048.1:p.Gln1360Ter, XP_006717049.1:p.Gln1360Ter, XP_005251802.1:p.Gln1360Ter, XP_005251803.1:p.Gln1360Ter, XP_005251805.1:p.Gln1360Ter, XP_005251807.1:p.Gln1360Ter, XP_016869835.1:p.Gln1360Ter, XP_011516629.1:p.Gln1360Ter, XP_016869837.1:p.Gln1360Ter, XP_016869838.1:p.Gln1360Ter, XP_005251808.1:p.Gln1360Ter, XP_016869840.1:p.Gln1360Ter, XP_016869841.1:p.Gln1360Ter, NP_001294977.1:p.Gln1360Ter, NP_001294976.1:p.Gln1360Ter, XP_047278836.1:p.Gln1360Ter, XP_047278841.1:p.Gln1184Ter, XP_047278839.1:p.Gln1360Ter, XP_047278840.1:p.Gln1360Ter, XP_047278832.1:p.Gln1360Ter, XP_047278834.1:p.Gln1360Ter, XP_047278835.1:p.Gln1360Ter, XP_047278837.1:p.Gln1360Ter, XP_047278838.1:p.Gln1360Ter

                    10.

                    rs1486834496 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      9:76905954 (GRCh38)
                      9:79520870 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:76905953:A:C
                      Gene:
                      PRUNE2 (Varview)
                      Functional Consequence:
                      missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.76905954A>C, NC_000009.11:g.79520870A>C, XM_006716984.3:c.10T>G, XM_006716984.2:c.10T>G, XM_006716984.1:c.10T>G, XM_011518326.3:c.10T>G, XM_011518326.2:c.10T>G, XM_011518326.1:c.10T>G, XM_011518328.3:c.10T>G, XM_011518328.2:c.10T>G, XM_011518328.1:c.10T>G, XM_011518323.3:c.10T>G, XM_011518323.2:c.10T>G, XM_011518323.1:c.10T>G, NM_015225.3:c.10T>G, NM_015225.2:c.10T>G, XM_005251754.3:c.10T>G, XM_005251754.2:c.10T>G, XM_005251754.1:c.10T>G, XM_017014353.3:c.10T>G, XM_017014353.2:c.10T>G, XM_017014353.1:c.10T>G, XM_006716982.2:c.10T>G, XM_006716982.1:c.10T>G, XM_006716983.2:c.10T>G, XM_006716983.1:c.10T>G, XM_006716985.2:c.10T>G, XM_006716985.1:c.10T>G, XM_006716986.2:c.10T>G, XM_006716986.1:c.10T>G, XM_005251745.2:c.10T>G, XM_005251745.1:c.10T>G, XM_005251746.2:c.10T>G, XM_005251746.1:c.10T>G, XM_005251748.2:c.10T>G, XM_005251748.1:c.10T>G, XM_005251750.2:c.10T>G, XM_005251750.1:c.10T>G, XM_017014346.2:c.10T>G, XM_017014346.1:c.10T>G, XM_011518327.2:c.10T>G, XM_011518327.1:c.10T>G, XM_017014348.2:c.10T>G, XM_017014348.1:c.10T>G, XM_017014349.2:c.10T>G, XM_017014349.1:c.10T>G, XM_005251751.2:c.10T>G, XM_005251751.1:c.10T>G, XM_017014351.2:c.10T>G, XM_017014351.1:c.10T>G, XM_017014352.2:c.10T>G, XM_017014352.1:c.10T>G, NM_001308048.2:c.10T>G, NM_001308048.1:c.10T>G, NM_001308047.2:c.10T>G, NM_001308047.1:c.10T>G, NR_131751.2:n.161T>G, NR_131751.1:n.134T>G, NM_138818.2:c.10T>G, XM_047422880.1:c.10T>G, XM_047422885.1:c.-611T>G, XM_047422883.1:c.10T>G, XM_047422884.1:c.10T>G, XM_047422876.1:c.10T>G, XM_047422878.1:c.10T>G, XM_047422879.1:c.10T>G, XM_047422881.1:c.10T>G, XM_047422882.1:c.10T>G, NM_138818.1:c.10T>G, XP_006717047.1:p.Phe4Val, XP_011516628.1:p.Phe4Val, XP_011516630.1:p.Phe4Val, XP_011516625.1:p.Phe4Val, NP_056040.2:p.Phe4Val, XP_005251811.1:p.Phe4Val, XP_016869842.1:p.Phe4Val, XP_006717045.1:p.Phe4Val, XP_006717046.1:p.Phe4Val, XP_006717048.1:p.Phe4Val, XP_006717049.1:p.Phe4Val, XP_005251802.1:p.Phe4Val, XP_005251803.1:p.Phe4Val, XP_005251805.1:p.Phe4Val, XP_005251807.1:p.Phe4Val, XP_016869835.1:p.Phe4Val, XP_011516629.1:p.Phe4Val, XP_016869837.1:p.Phe4Val, XP_016869838.1:p.Phe4Val, XP_005251808.1:p.Phe4Val, XP_016869840.1:p.Phe4Val, XP_016869841.1:p.Phe4Val, NP_001294977.1:p.Phe4Val, NP_001294976.1:p.Phe4Val, XP_047278836.1:p.Phe4Val, XP_047278839.1:p.Phe4Val, XP_047278840.1:p.Phe4Val, XP_047278832.1:p.Phe4Val, XP_047278834.1:p.Phe4Val, XP_047278835.1:p.Phe4Val, XP_047278837.1:p.Phe4Val, XP_047278838.1:p.Phe4Val

                      11.

                      rs1486749707 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        9:76710240 (GRCh38)
                        9:79325156 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:76710239:A:C
                        Gene:
                        PRUNE2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.76710240A>C, NC_000009.11:g.79325156A>C, XM_006716984.3:c.2034T>G, XM_006716984.2:c.2034T>G, XM_006716984.1:c.2034T>G, XM_011518326.3:c.2034T>G, XM_011518326.2:c.2034T>G, XM_011518326.1:c.2034T>G, XM_011518328.3:c.2034T>G, XM_011518328.2:c.2034T>G, XM_011518328.1:c.2034T>G, XM_011518323.3:c.2034T>G, XM_011518323.2:c.2034T>G, XM_011518323.1:c.2034T>G, NM_015225.3:c.2034T>G, NM_015225.2:c.2034T>G, XM_005251754.3:c.2034T>G, XM_005251754.2:c.2034T>G, XM_005251754.1:c.2034T>G, XM_017014353.3:c.2034T>G, XM_017014353.2:c.2034T>G, XM_017014353.1:c.2034T>G, XM_006716982.2:c.2034T>G, XM_006716982.1:c.2034T>G, XM_006716983.2:c.2034T>G, XM_006716983.1:c.2034T>G, XM_006716985.2:c.2034T>G, XM_006716985.1:c.2034T>G, XM_006716986.2:c.2034T>G, XM_006716986.1:c.2034T>G, XM_005251745.2:c.2034T>G, XM_005251745.1:c.2034T>G, XM_005251746.2:c.2034T>G, XM_005251746.1:c.2034T>G, XM_005251748.2:c.2034T>G, XM_005251748.1:c.2034T>G, XM_005251750.2:c.2034T>G, XM_005251750.1:c.2034T>G, XM_017014346.2:c.2034T>G, XM_017014346.1:c.2034T>G, XM_011518327.2:c.2034T>G, XM_011518327.1:c.2034T>G, XM_017014348.2:c.2034T>G, XM_017014348.1:c.2034T>G, XM_017014349.2:c.2034T>G, XM_017014349.1:c.2034T>G, XM_005251751.2:c.2034T>G, XM_005251751.1:c.2034T>G, XM_017014351.2:c.2034T>G, XM_017014351.1:c.2034T>G, XM_017014352.2:c.2034T>G, XM_017014352.1:c.2034T>G, NM_001308048.2:c.2034T>G, NM_001308048.1:c.2034T>G, NM_001308047.2:c.2034T>G, NM_001308047.1:c.2034T>G, NR_131751.2:n.1982T>G, NR_131751.1:n.1955T>G, XM_047422880.1:c.2034T>G, XM_047422885.1:c.1506T>G, XM_047422883.1:c.2034T>G, XM_047422884.1:c.2034T>G, XM_047422876.1:c.2034T>G, XM_047422878.1:c.2034T>G, XM_047422879.1:c.2034T>G, XM_047422881.1:c.2034T>G, XM_047422882.1:c.2034T>G

                        12.

                        rs1486543414 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          9:76704012 (GRCh38)
                          9:79318928 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:76704011:T:C
                          Gene:
                          PRUNE2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.76704012T>C, NC_000009.11:g.79318928T>C, XM_006716984.3:c.7601A>G, XM_006716984.2:c.7601A>G, XM_006716984.1:c.7601A>G, XM_011518326.3:c.7601A>G, XM_011518326.2:c.7601A>G, XM_011518326.1:c.7601A>G, XM_011518328.3:c.7601A>G, XM_011518328.2:c.7601A>G, XM_011518328.1:c.7601A>G, XM_011518323.3:c.7601A>G, XM_011518323.2:c.7601A>G, XM_011518323.1:c.7601A>G, NM_015225.3:c.7601A>G, NM_015225.2:c.7601A>G, XM_005251754.3:c.7601A>G, XM_005251754.2:c.7601A>G, XM_005251754.1:c.7601A>G, XM_017014353.3:c.7601A>G, XM_017014353.2:c.7601A>G, XM_017014353.1:c.7601A>G, XM_006716982.2:c.7601A>G, XM_006716982.1:c.7601A>G, XM_006716983.2:c.7601A>G, XM_006716983.1:c.7601A>G, XM_006716985.2:c.7601A>G, XM_006716985.1:c.7601A>G, XM_006716986.2:c.7601A>G, XM_006716986.1:c.7601A>G, XM_005251745.2:c.7601A>G, XM_005251745.1:c.7601A>G, XM_005251746.2:c.7601A>G, XM_005251746.1:c.7601A>G, XM_005251748.2:c.7601A>G, XM_005251748.1:c.7601A>G, XM_005251750.2:c.7601A>G, XM_005251750.1:c.7601A>G, XM_017014346.2:c.7601A>G, XM_017014346.1:c.7601A>G, XM_011518327.2:c.7601A>G, XM_011518327.1:c.7601A>G, XM_017014348.2:c.7601A>G, XM_017014348.1:c.7601A>G, XM_017014349.2:c.7601A>G, XM_017014349.1:c.7601A>G, XM_005251751.2:c.7601A>G, XM_005251751.1:c.7601A>G, XM_017014351.2:c.7601A>G, XM_017014351.1:c.7601A>G, XM_017014352.2:c.7601A>G, XM_017014352.1:c.7601A>G, NM_001308048.2:c.7601A>G, NM_001308048.1:c.7601A>G, NM_001308047.2:c.7601A>G, NM_001308047.1:c.7601A>G, NR_131751.2:n.7549A>G, NR_131751.1:n.7522A>G, XM_047422880.1:c.7601A>G, XM_047422885.1:c.7073A>G, XM_047422883.1:c.7601A>G, XM_047422884.1:c.7601A>G, XM_047422876.1:c.7601A>G, XM_047422878.1:c.7601A>G, XM_047422879.1:c.7601A>G, XM_047422881.1:c.7601A>G, XM_047422882.1:c.7601A>G, XP_006717047.1:p.Glu2534Gly, XP_011516628.1:p.Glu2534Gly, XP_011516630.1:p.Glu2534Gly, XP_011516625.1:p.Glu2534Gly, NP_056040.2:p.Glu2534Gly, XP_005251811.1:p.Glu2534Gly, XP_016869842.1:p.Glu2534Gly, XP_006717045.1:p.Glu2534Gly, XP_006717046.1:p.Glu2534Gly, XP_006717048.1:p.Glu2534Gly, XP_006717049.1:p.Glu2534Gly, XP_005251802.1:p.Glu2534Gly, XP_005251803.1:p.Glu2534Gly, XP_005251805.1:p.Glu2534Gly, XP_005251807.1:p.Glu2534Gly, XP_016869835.1:p.Glu2534Gly, XP_011516629.1:p.Glu2534Gly, XP_016869837.1:p.Glu2534Gly, XP_016869838.1:p.Glu2534Gly, XP_005251808.1:p.Glu2534Gly, XP_016869840.1:p.Glu2534Gly, XP_016869841.1:p.Glu2534Gly, NP_001294977.1:p.Glu2534Gly, NP_001294976.1:p.Glu2534Gly, XP_047278836.1:p.Glu2534Gly, XP_047278841.1:p.Glu2358Gly, XP_047278839.1:p.Glu2534Gly, XP_047278840.1:p.Glu2534Gly, XP_047278832.1:p.Glu2534Gly, XP_047278834.1:p.Glu2534Gly, XP_047278835.1:p.Glu2534Gly, XP_047278837.1:p.Glu2534Gly, XP_047278838.1:p.Glu2534Gly

                          13.

                          rs1485697412 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->GG [Show Flanks]
                            Chromosome:
                            9:76703654 (GRCh38)
                            9:79318571 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:76703654:GG:GGGG
                            Gene:
                            PRUNE2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            GG=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.76703655_76703656dup, NC_000009.11:g.79318571_79318572dup, XM_006716984.3:c.7957_7958dup, XM_006716984.2:c.7957_7958dup, XM_006716984.1:c.7957_7958dup, XM_011518326.3:c.7957_7958dup, XM_011518326.2:c.7957_7958dup, XM_011518326.1:c.7957_7958dup, XM_011518328.3:c.7957_7958dup, XM_011518328.2:c.7957_7958dup, XM_011518328.1:c.7957_7958dup, XM_011518323.3:c.7957_7958dup, XM_011518323.2:c.7957_7958dup, XM_011518323.1:c.7957_7958dup, NM_015225.3:c.7957_7958dup, NM_015225.2:c.7957_7958dup, XM_005251754.3:c.7957_7958dup, XM_005251754.2:c.7957_7958dup, XM_005251754.1:c.7957_7958dup, XM_017014353.3:c.7957_7958dup, XM_017014353.2:c.7957_7958dup, XM_017014353.1:c.7957_7958dup, XM_006716982.2:c.7957_7958dup, XM_006716982.1:c.7957_7958dup, XM_006716983.2:c.7957_7958dup, XM_006716983.1:c.7957_7958dup, XM_006716985.2:c.7957_7958dup, XM_006716985.1:c.7957_7958dup, XM_006716986.2:c.7957_7958dup, XM_006716986.1:c.7957_7958dup, XM_005251745.2:c.7957_7958dup, XM_005251745.1:c.7957_7958dup, XM_005251746.2:c.7957_7958dup, XM_005251746.1:c.7957_7958dup, XM_005251748.2:c.7957_7958dup, XM_005251748.1:c.7957_7958dup, XM_005251750.2:c.7957_7958dup, XM_005251750.1:c.7957_7958dup, XM_017014346.2:c.7957_7958dup, XM_017014346.1:c.7957_7958dup, XM_011518327.2:c.7957_7958dup, XM_011518327.1:c.7957_7958dup, XM_017014348.2:c.7957_7958dup, XM_017014348.1:c.7957_7958dup, XM_017014349.2:c.7957_7958dup, XM_017014349.1:c.7957_7958dup, XM_005251751.2:c.7957_7958dup, XM_005251751.1:c.7957_7958dup, XM_017014351.2:c.7957_7958dup, XM_017014351.1:c.7957_7958dup, XM_017014352.2:c.7957_7958dup, XM_017014352.1:c.7957_7958dup, NM_001308048.2:c.7957_7958dup, NM_001308048.1:c.7957_7958dup, NM_001308047.2:c.7957_7958dup, NM_001308047.1:c.7957_7958dup, NR_131751.2:n.7905_7906dup, NR_131751.1:n.7878_7879dup, XM_047422880.1:c.7957_7958dup, XM_047422885.1:c.7429_7430dup, XM_047422883.1:c.7957_7958dup, XM_047422884.1:c.7957_7958dup, XM_047422876.1:c.7957_7958dup, XM_047422878.1:c.7957_7958dup, XM_047422879.1:c.7957_7958dup, XM_047422881.1:c.7957_7958dup, XM_047422882.1:c.7957_7958dup, XP_006717047.1:p.Gly2654fs, XP_011516628.1:p.Gly2654fs, XP_011516630.1:p.Gly2654fs, XP_011516625.1:p.Gly2654fs, NP_056040.2:p.Gly2654fs, XP_005251811.1:p.Gly2654fs, XP_016869842.1:p.Gly2654fs, XP_006717045.1:p.Gly2654fs, XP_006717046.1:p.Gly2654fs, XP_006717048.1:p.Gly2654fs, XP_006717049.1:p.Gly2654fs, XP_005251802.1:p.Gly2654fs, XP_005251803.1:p.Gly2654fs, XP_005251805.1:p.Gly2654fs, XP_005251807.1:p.Gly2654fs, XP_016869835.1:p.Gly2654fs, XP_011516629.1:p.Gly2654fs, XP_016869837.1:p.Gly2654fs, XP_016869838.1:p.Gly2654fs, XP_005251808.1:p.Gly2654fs, XP_016869840.1:p.Gly2654fs, XP_016869841.1:p.Gly2654fs, NP_001294977.1:p.Gly2654fs, NP_001294976.1:p.Gly2654fs, XP_047278836.1:p.Gly2654fs, XP_047278841.1:p.Gly2478fs, XP_047278839.1:p.Gly2654fs, XP_047278840.1:p.Gly2654fs, XP_047278832.1:p.Gly2654fs, XP_047278834.1:p.Gly2654fs, XP_047278835.1:p.Gly2654fs, XP_047278837.1:p.Gly2654fs, XP_047278838.1:p.Gly2654fs

                            14.

                            rs1485114903 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:76709912 (GRCh38)
                              9:79324828 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:76709911:C:T
                              Gene:
                              PRUNE2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000009.12:g.76709912C>T, NC_000009.11:g.79324828C>T, XM_006716984.3:c.2362G>A, XM_006716984.2:c.2362G>A, XM_006716984.1:c.2362G>A, XM_011518326.3:c.2362G>A, XM_011518326.2:c.2362G>A, XM_011518326.1:c.2362G>A, XM_011518328.3:c.2362G>A, XM_011518328.2:c.2362G>A, XM_011518328.1:c.2362G>A, XM_011518323.3:c.2362G>A, XM_011518323.2:c.2362G>A, XM_011518323.1:c.2362G>A, NM_015225.3:c.2362G>A, NM_015225.2:c.2362G>A, XM_005251754.3:c.2362G>A, XM_005251754.2:c.2362G>A, XM_005251754.1:c.2362G>A, XM_017014353.3:c.2362G>A, XM_017014353.2:c.2362G>A, XM_017014353.1:c.2362G>A, XM_006716982.2:c.2362G>A, XM_006716982.1:c.2362G>A, XM_006716983.2:c.2362G>A, XM_006716983.1:c.2362G>A, XM_006716985.2:c.2362G>A, XM_006716985.1:c.2362G>A, XM_006716986.2:c.2362G>A, XM_006716986.1:c.2362G>A, XM_005251745.2:c.2362G>A, XM_005251745.1:c.2362G>A, XM_005251746.2:c.2362G>A, XM_005251746.1:c.2362G>A, XM_005251748.2:c.2362G>A, XM_005251748.1:c.2362G>A, XM_005251750.2:c.2362G>A, XM_005251750.1:c.2362G>A, XM_017014346.2:c.2362G>A, XM_017014346.1:c.2362G>A, XM_011518327.2:c.2362G>A, XM_011518327.1:c.2362G>A, XM_017014348.2:c.2362G>A, XM_017014348.1:c.2362G>A, XM_017014349.2:c.2362G>A, XM_017014349.1:c.2362G>A, XM_005251751.2:c.2362G>A, XM_005251751.1:c.2362G>A, XM_017014351.2:c.2362G>A, XM_017014351.1:c.2362G>A, XM_017014352.2:c.2362G>A, XM_017014352.1:c.2362G>A, NM_001308048.2:c.2362G>A, NM_001308048.1:c.2362G>A, NM_001308047.2:c.2362G>A, NM_001308047.1:c.2362G>A, NR_131751.2:n.2310G>A, NR_131751.1:n.2283G>A, XM_047422880.1:c.2362G>A, XM_047422885.1:c.1834G>A, XM_047422883.1:c.2362G>A, XM_047422884.1:c.2362G>A, XM_047422876.1:c.2362G>A, XM_047422878.1:c.2362G>A, XM_047422879.1:c.2362G>A, XM_047422881.1:c.2362G>A, XM_047422882.1:c.2362G>A, XP_006717047.1:p.Asp788Asn, XP_011516628.1:p.Asp788Asn, XP_011516630.1:p.Asp788Asn, XP_011516625.1:p.Asp788Asn, NP_056040.2:p.Asp788Asn, XP_005251811.1:p.Asp788Asn, XP_016869842.1:p.Asp788Asn, XP_006717045.1:p.Asp788Asn, XP_006717046.1:p.Asp788Asn, XP_006717048.1:p.Asp788Asn, XP_006717049.1:p.Asp788Asn, XP_005251802.1:p.Asp788Asn, XP_005251803.1:p.Asp788Asn, XP_005251805.1:p.Asp788Asn, XP_005251807.1:p.Asp788Asn, XP_016869835.1:p.Asp788Asn, XP_011516629.1:p.Asp788Asn, XP_016869837.1:p.Asp788Asn, XP_016869838.1:p.Asp788Asn, XP_005251808.1:p.Asp788Asn, XP_016869840.1:p.Asp788Asn, XP_016869841.1:p.Asp788Asn, NP_001294977.1:p.Asp788Asn, NP_001294976.1:p.Asp788Asn, XP_047278836.1:p.Asp788Asn, XP_047278841.1:p.Asp612Asn, XP_047278839.1:p.Asp788Asn, XP_047278840.1:p.Asp788Asn, XP_047278832.1:p.Asp788Asn, XP_047278834.1:p.Asp788Asn, XP_047278835.1:p.Asp788Asn, XP_047278837.1:p.Asp788Asn, XP_047278838.1:p.Asp788Asn

                              15.

                              rs1483959345 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                9:76708902 (GRCh38)
                                9:79323818 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:76708901:C:G
                                Gene:
                                PRUNE2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000009.12:g.76708902C>G, NC_000009.11:g.79323818C>G, XM_006716984.3:c.3372G>C, XM_006716984.2:c.3372G>C, XM_006716984.1:c.3372G>C, XM_011518326.3:c.3372G>C, XM_011518326.2:c.3372G>C, XM_011518326.1:c.3372G>C, XM_011518328.3:c.3372G>C, XM_011518328.2:c.3372G>C, XM_011518328.1:c.3372G>C, XM_011518323.3:c.3372G>C, XM_011518323.2:c.3372G>C, XM_011518323.1:c.3372G>C, NM_015225.3:c.3372G>C, NM_015225.2:c.3372G>C, XM_005251754.3:c.3372G>C, XM_005251754.2:c.3372G>C, XM_005251754.1:c.3372G>C, XM_017014353.3:c.3372G>C, XM_017014353.2:c.3372G>C, XM_017014353.1:c.3372G>C, XM_006716982.2:c.3372G>C, XM_006716982.1:c.3372G>C, XM_006716983.2:c.3372G>C, XM_006716983.1:c.3372G>C, XM_006716985.2:c.3372G>C, XM_006716985.1:c.3372G>C, XM_006716986.2:c.3372G>C, XM_006716986.1:c.3372G>C, XM_005251745.2:c.3372G>C, XM_005251745.1:c.3372G>C, XM_005251746.2:c.3372G>C, XM_005251746.1:c.3372G>C, XM_005251748.2:c.3372G>C, XM_005251748.1:c.3372G>C, XM_005251750.2:c.3372G>C, XM_005251750.1:c.3372G>C, XM_017014346.2:c.3372G>C, XM_017014346.1:c.3372G>C, XM_011518327.2:c.3372G>C, XM_011518327.1:c.3372G>C, XM_017014348.2:c.3372G>C, XM_017014348.1:c.3372G>C, XM_017014349.2:c.3372G>C, XM_017014349.1:c.3372G>C, XM_005251751.2:c.3372G>C, XM_005251751.1:c.3372G>C, XM_017014351.2:c.3372G>C, XM_017014351.1:c.3372G>C, XM_017014352.2:c.3372G>C, XM_017014352.1:c.3372G>C, NM_001308048.2:c.3372G>C, NM_001308048.1:c.3372G>C, NM_001308047.2:c.3372G>C, NM_001308047.1:c.3372G>C, NR_131751.2:n.3320G>C, NR_131751.1:n.3293G>C, XM_047422880.1:c.3372G>C, XM_047422885.1:c.2844G>C, XM_047422883.1:c.3372G>C, XM_047422884.1:c.3372G>C, XM_047422876.1:c.3372G>C, XM_047422878.1:c.3372G>C, XM_047422879.1:c.3372G>C, XM_047422881.1:c.3372G>C, XM_047422882.1:c.3372G>C, XP_006717047.1:p.Gln1124His, XP_011516628.1:p.Gln1124His, XP_011516630.1:p.Gln1124His, XP_011516625.1:p.Gln1124His, NP_056040.2:p.Gln1124His, XP_005251811.1:p.Gln1124His, XP_016869842.1:p.Gln1124His, XP_006717045.1:p.Gln1124His, XP_006717046.1:p.Gln1124His, XP_006717048.1:p.Gln1124His, XP_006717049.1:p.Gln1124His, XP_005251802.1:p.Gln1124His, XP_005251803.1:p.Gln1124His, XP_005251805.1:p.Gln1124His, XP_005251807.1:p.Gln1124His, XP_016869835.1:p.Gln1124His, XP_011516629.1:p.Gln1124His, XP_016869837.1:p.Gln1124His, XP_016869838.1:p.Gln1124His, XP_005251808.1:p.Gln1124His, XP_016869840.1:p.Gln1124His, XP_016869841.1:p.Gln1124His, NP_001294977.1:p.Gln1124His, NP_001294976.1:p.Gln1124His, XP_047278836.1:p.Gln1124His, XP_047278841.1:p.Gln948His, XP_047278839.1:p.Gln1124His, XP_047278840.1:p.Gln1124His, XP_047278832.1:p.Gln1124His, XP_047278834.1:p.Gln1124His, XP_047278835.1:p.Gln1124His, XP_047278837.1:p.Gln1124His, XP_047278838.1:p.Gln1124His

                                16.

                                rs1483730208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:76706771 (GRCh38)
                                  9:79321687 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:76706770:G:A
                                  Gene:
                                  PRUNE2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,stop_gained
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000106/2 (TOMMO)
                                  HGVS:
                                  NC_000009.12:g.76706771G>A, NC_000009.11:g.79321687G>A, XM_006716984.3:c.5503C>T, XM_006716984.2:c.5503C>T, XM_006716984.1:c.5503C>T, XM_011518326.3:c.5503C>T, XM_011518326.2:c.5503C>T, XM_011518326.1:c.5503C>T, XM_011518328.3:c.5503C>T, XM_011518328.2:c.5503C>T, XM_011518328.1:c.5503C>T, XM_011518323.3:c.5503C>T, XM_011518323.2:c.5503C>T, XM_011518323.1:c.5503C>T, NM_015225.3:c.5503C>T, NM_015225.2:c.5503C>T, XM_005251754.3:c.5503C>T, XM_005251754.2:c.5503C>T, XM_005251754.1:c.5503C>T, XM_017014353.3:c.5503C>T, XM_017014353.2:c.5503C>T, XM_017014353.1:c.5503C>T, XM_006716982.2:c.5503C>T, XM_006716982.1:c.5503C>T, XM_006716983.2:c.5503C>T, XM_006716983.1:c.5503C>T, XM_006716985.2:c.5503C>T, XM_006716985.1:c.5503C>T, XM_006716986.2:c.5503C>T, XM_006716986.1:c.5503C>T, XM_005251745.2:c.5503C>T, XM_005251745.1:c.5503C>T, XM_005251746.2:c.5503C>T, XM_005251746.1:c.5503C>T, XM_005251748.2:c.5503C>T, XM_005251748.1:c.5503C>T, XM_005251750.2:c.5503C>T, XM_005251750.1:c.5503C>T, XM_017014346.2:c.5503C>T, XM_017014346.1:c.5503C>T, XM_011518327.2:c.5503C>T, XM_011518327.1:c.5503C>T, XM_017014348.2:c.5503C>T, XM_017014348.1:c.5503C>T, XM_017014349.2:c.5503C>T, XM_017014349.1:c.5503C>T, XM_005251751.2:c.5503C>T, XM_005251751.1:c.5503C>T, XM_017014351.2:c.5503C>T, XM_017014351.1:c.5503C>T, XM_017014352.2:c.5503C>T, XM_017014352.1:c.5503C>T, NM_001308048.2:c.5503C>T, NM_001308048.1:c.5503C>T, NM_001308047.2:c.5503C>T, NM_001308047.1:c.5503C>T, NR_131751.2:n.5451C>T, NR_131751.1:n.5424C>T, XM_047422880.1:c.5503C>T, XM_047422885.1:c.4975C>T, XM_047422883.1:c.5503C>T, XM_047422884.1:c.5503C>T, XM_047422876.1:c.5503C>T, XM_047422878.1:c.5503C>T, XM_047422879.1:c.5503C>T, XM_047422881.1:c.5503C>T, XM_047422882.1:c.5503C>T, XP_006717047.1:p.Gln1835Ter, XP_011516628.1:p.Gln1835Ter, XP_011516630.1:p.Gln1835Ter, XP_011516625.1:p.Gln1835Ter, NP_056040.2:p.Gln1835Ter, XP_005251811.1:p.Gln1835Ter, XP_016869842.1:p.Gln1835Ter, XP_006717045.1:p.Gln1835Ter, XP_006717046.1:p.Gln1835Ter, XP_006717048.1:p.Gln1835Ter, XP_006717049.1:p.Gln1835Ter, XP_005251802.1:p.Gln1835Ter, XP_005251803.1:p.Gln1835Ter, XP_005251805.1:p.Gln1835Ter, XP_005251807.1:p.Gln1835Ter, XP_016869835.1:p.Gln1835Ter, XP_011516629.1:p.Gln1835Ter, XP_016869837.1:p.Gln1835Ter, XP_016869838.1:p.Gln1835Ter, XP_005251808.1:p.Gln1835Ter, XP_016869840.1:p.Gln1835Ter, XP_016869841.1:p.Gln1835Ter, NP_001294977.1:p.Gln1835Ter, NP_001294976.1:p.Gln1835Ter, XP_047278836.1:p.Gln1835Ter, XP_047278841.1:p.Gln1659Ter, XP_047278839.1:p.Gln1835Ter, XP_047278840.1:p.Gln1835Ter, XP_047278832.1:p.Gln1835Ter, XP_047278834.1:p.Gln1835Ter, XP_047278835.1:p.Gln1835Ter, XP_047278837.1:p.Gln1835Ter, XP_047278838.1:p.Gln1835Ter

                                  17.

                                  rs1483333877 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:76703900 (GRCh38)
                                    9:79318816 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:76703899:G:A
                                    Gene:
                                    PRUNE2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000009.12:g.76703900G>A, NC_000009.11:g.79318816G>A, XM_006716984.3:c.7713C>T, XM_006716984.2:c.7713C>T, XM_006716984.1:c.7713C>T, XM_011518326.3:c.7713C>T, XM_011518326.2:c.7713C>T, XM_011518326.1:c.7713C>T, XM_011518328.3:c.7713C>T, XM_011518328.2:c.7713C>T, XM_011518328.1:c.7713C>T, XM_011518323.3:c.7713C>T, XM_011518323.2:c.7713C>T, XM_011518323.1:c.7713C>T, NM_015225.3:c.7713C>T, NM_015225.2:c.7713C>T, XM_005251754.3:c.7713C>T, XM_005251754.2:c.7713C>T, XM_005251754.1:c.7713C>T, XM_017014353.3:c.7713C>T, XM_017014353.2:c.7713C>T, XM_017014353.1:c.7713C>T, XM_006716982.2:c.7713C>T, XM_006716982.1:c.7713C>T, XM_006716983.2:c.7713C>T, XM_006716983.1:c.7713C>T, XM_006716985.2:c.7713C>T, XM_006716985.1:c.7713C>T, XM_006716986.2:c.7713C>T, XM_006716986.1:c.7713C>T, XM_005251745.2:c.7713C>T, XM_005251745.1:c.7713C>T, XM_005251746.2:c.7713C>T, XM_005251746.1:c.7713C>T, XM_005251748.2:c.7713C>T, XM_005251748.1:c.7713C>T, XM_005251750.2:c.7713C>T, XM_005251750.1:c.7713C>T, XM_017014346.2:c.7713C>T, XM_017014346.1:c.7713C>T, XM_011518327.2:c.7713C>T, XM_011518327.1:c.7713C>T, XM_017014348.2:c.7713C>T, XM_017014348.1:c.7713C>T, XM_017014349.2:c.7713C>T, XM_017014349.1:c.7713C>T, XM_005251751.2:c.7713C>T, XM_005251751.1:c.7713C>T, XM_017014351.2:c.7713C>T, XM_017014351.1:c.7713C>T, XM_017014352.2:c.7713C>T, XM_017014352.1:c.7713C>T, NM_001308048.2:c.7713C>T, NM_001308048.1:c.7713C>T, NM_001308047.2:c.7713C>T, NM_001308047.1:c.7713C>T, NR_131751.2:n.7661C>T, NR_131751.1:n.7634C>T, XM_047422880.1:c.7713C>T, XM_047422885.1:c.7185C>T, XM_047422883.1:c.7713C>T, XM_047422884.1:c.7713C>T, XM_047422876.1:c.7713C>T, XM_047422878.1:c.7713C>T, XM_047422879.1:c.7713C>T, XM_047422881.1:c.7713C>T, XM_047422882.1:c.7713C>T

                                    18.

                                    rs1483281414 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:76709027 (GRCh38)
                                      9:79323943 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:76709026:T:C
                                      Gene:
                                      PRUNE2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.76709027T>C, NC_000009.11:g.79323943T>C, XM_006716984.3:c.3247A>G, XM_006716984.2:c.3247A>G, XM_006716984.1:c.3247A>G, XM_011518326.3:c.3247A>G, XM_011518326.2:c.3247A>G, XM_011518326.1:c.3247A>G, XM_011518328.3:c.3247A>G, XM_011518328.2:c.3247A>G, XM_011518328.1:c.3247A>G, XM_011518323.3:c.3247A>G, XM_011518323.2:c.3247A>G, XM_011518323.1:c.3247A>G, NM_015225.3:c.3247A>G, NM_015225.2:c.3247A>G, XM_005251754.3:c.3247A>G, XM_005251754.2:c.3247A>G, XM_005251754.1:c.3247A>G, XM_017014353.3:c.3247A>G, XM_017014353.2:c.3247A>G, XM_017014353.1:c.3247A>G, XM_006716982.2:c.3247A>G, XM_006716982.1:c.3247A>G, XM_006716983.2:c.3247A>G, XM_006716983.1:c.3247A>G, XM_006716985.2:c.3247A>G, XM_006716985.1:c.3247A>G, XM_006716986.2:c.3247A>G, XM_006716986.1:c.3247A>G, XM_005251745.2:c.3247A>G, XM_005251745.1:c.3247A>G, XM_005251746.2:c.3247A>G, XM_005251746.1:c.3247A>G, XM_005251748.2:c.3247A>G, XM_005251748.1:c.3247A>G, XM_005251750.2:c.3247A>G, XM_005251750.1:c.3247A>G, XM_017014346.2:c.3247A>G, XM_017014346.1:c.3247A>G, XM_011518327.2:c.3247A>G, XM_011518327.1:c.3247A>G, XM_017014348.2:c.3247A>G, XM_017014348.1:c.3247A>G, XM_017014349.2:c.3247A>G, XM_017014349.1:c.3247A>G, XM_005251751.2:c.3247A>G, XM_005251751.1:c.3247A>G, XM_017014351.2:c.3247A>G, XM_017014351.1:c.3247A>G, XM_017014352.2:c.3247A>G, XM_017014352.1:c.3247A>G, NM_001308048.2:c.3247A>G, NM_001308048.1:c.3247A>G, NM_001308047.2:c.3247A>G, NM_001308047.1:c.3247A>G, NR_131751.2:n.3195A>G, NR_131751.1:n.3168A>G, XM_047422880.1:c.3247A>G, XM_047422885.1:c.2719A>G, XM_047422883.1:c.3247A>G, XM_047422884.1:c.3247A>G, XM_047422876.1:c.3247A>G, XM_047422878.1:c.3247A>G, XM_047422879.1:c.3247A>G, XM_047422881.1:c.3247A>G, XM_047422882.1:c.3247A>G, XP_006717047.1:p.Ser1083Gly, XP_011516628.1:p.Ser1083Gly, XP_011516630.1:p.Ser1083Gly, XP_011516625.1:p.Ser1083Gly, NP_056040.2:p.Ser1083Gly, XP_005251811.1:p.Ser1083Gly, XP_016869842.1:p.Ser1083Gly, XP_006717045.1:p.Ser1083Gly, XP_006717046.1:p.Ser1083Gly, XP_006717048.1:p.Ser1083Gly, XP_006717049.1:p.Ser1083Gly, XP_005251802.1:p.Ser1083Gly, XP_005251803.1:p.Ser1083Gly, XP_005251805.1:p.Ser1083Gly, XP_005251807.1:p.Ser1083Gly, XP_016869835.1:p.Ser1083Gly, XP_011516629.1:p.Ser1083Gly, XP_016869837.1:p.Ser1083Gly, XP_016869838.1:p.Ser1083Gly, XP_005251808.1:p.Ser1083Gly, XP_016869840.1:p.Ser1083Gly, XP_016869841.1:p.Ser1083Gly, NP_001294977.1:p.Ser1083Gly, NP_001294976.1:p.Ser1083Gly, XP_047278836.1:p.Ser1083Gly, XP_047278841.1:p.Ser907Gly, XP_047278839.1:p.Ser1083Gly, XP_047278840.1:p.Ser1083Gly, XP_047278832.1:p.Ser1083Gly, XP_047278834.1:p.Ser1083Gly, XP_047278835.1:p.Ser1083Gly, XP_047278837.1:p.Ser1083Gly, XP_047278838.1:p.Ser1083Gly

                                      19.

                                      rs1483236833 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        9:76703419 (GRCh38)
                                        9:79318335 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:76703418:G:C
                                        Gene:
                                        PRUNE2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.76703419G>C, NC_000009.11:g.79318335G>C, XM_006716984.3:c.8194C>G, XM_006716984.2:c.8194C>G, XM_006716984.1:c.8194C>G, XM_011518326.3:c.8194C>G, XM_011518326.2:c.8194C>G, XM_011518326.1:c.8194C>G, XM_011518328.3:c.8194C>G, XM_011518328.2:c.8194C>G, XM_011518328.1:c.8194C>G, XM_011518323.3:c.8194C>G, XM_011518323.2:c.8194C>G, XM_011518323.1:c.8194C>G, NM_015225.3:c.8194C>G, NM_015225.2:c.8194C>G, XM_005251754.3:c.8194C>G, XM_005251754.2:c.8194C>G, XM_005251754.1:c.8194C>G, XM_017014353.3:c.8194C>G, XM_017014353.2:c.8194C>G, XM_017014353.1:c.8194C>G, XM_006716982.2:c.8194C>G, XM_006716982.1:c.8194C>G, XM_006716983.2:c.8194C>G, XM_006716983.1:c.8194C>G, XM_006716985.2:c.8194C>G, XM_006716985.1:c.8194C>G, XM_006716986.2:c.8194C>G, XM_006716986.1:c.8194C>G, XM_005251745.2:c.8194C>G, XM_005251745.1:c.8194C>G, XM_005251746.2:c.8194C>G, XM_005251746.1:c.8194C>G, XM_005251748.2:c.8194C>G, XM_005251748.1:c.8194C>G, XM_005251750.2:c.8194C>G, XM_005251750.1:c.8194C>G, XM_017014346.2:c.8194C>G, XM_017014346.1:c.8194C>G, XM_011518327.2:c.8194C>G, XM_011518327.1:c.8194C>G, XM_017014348.2:c.8194C>G, XM_017014348.1:c.8194C>G, XM_017014349.2:c.8194C>G, XM_017014349.1:c.8194C>G, XM_005251751.2:c.8194C>G, XM_005251751.1:c.8194C>G, XM_017014351.2:c.8194C>G, XM_017014351.1:c.8194C>G, XM_017014352.2:c.8194C>G, XM_017014352.1:c.8194C>G, NM_001308048.2:c.8194C>G, NM_001308048.1:c.8194C>G, NM_001308047.2:c.8194C>G, NM_001308047.1:c.8194C>G, NR_131751.2:n.8142C>G, NR_131751.1:n.8115C>G, XM_047422880.1:c.8194C>G, XM_047422885.1:c.7666C>G, XM_047422883.1:c.8194C>G, XM_047422884.1:c.8194C>G, XM_047422876.1:c.8194C>G, XM_047422878.1:c.8194C>G, XM_047422879.1:c.8194C>G, XM_047422881.1:c.8194C>G, XM_047422882.1:c.8194C>G, XP_006717047.1:p.Gln2732Glu, XP_011516628.1:p.Gln2732Glu, XP_011516630.1:p.Gln2732Glu, XP_011516625.1:p.Gln2732Glu, NP_056040.2:p.Gln2732Glu, XP_005251811.1:p.Gln2732Glu, XP_016869842.1:p.Gln2732Glu, XP_006717045.1:p.Gln2732Glu, XP_006717046.1:p.Gln2732Glu, XP_006717048.1:p.Gln2732Glu, XP_006717049.1:p.Gln2732Glu, XP_005251802.1:p.Gln2732Glu, XP_005251803.1:p.Gln2732Glu, XP_005251805.1:p.Gln2732Glu, XP_005251807.1:p.Gln2732Glu, XP_016869835.1:p.Gln2732Glu, XP_011516629.1:p.Gln2732Glu, XP_016869837.1:p.Gln2732Glu, XP_016869838.1:p.Gln2732Glu, XP_005251808.1:p.Gln2732Glu, XP_016869840.1:p.Gln2732Glu, XP_016869841.1:p.Gln2732Glu, NP_001294977.1:p.Gln2732Glu, NP_001294976.1:p.Gln2732Glu, XP_047278836.1:p.Gln2732Glu, XP_047278841.1:p.Gln2556Glu, XP_047278839.1:p.Gln2732Glu, XP_047278840.1:p.Gln2732Glu, XP_047278832.1:p.Gln2732Glu, XP_047278834.1:p.Gln2732Glu, XP_047278835.1:p.Gln2732Glu, XP_047278837.1:p.Gln2732Glu, XP_047278838.1:p.Gln2732Glu

                                        20.

                                        rs1482980089 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:76704897 (GRCh38)
                                          9:79319813 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:76704896:A:G
                                          Gene:
                                          PRUNE2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.76704897A>G, NC_000009.11:g.79319813A>G, XM_006716984.3:c.7377T>C, XM_006716984.2:c.7377T>C, XM_006716984.1:c.7377T>C, XM_011518326.3:c.7377T>C, XM_011518326.2:c.7377T>C, XM_011518326.1:c.7377T>C, XM_011518328.3:c.7377T>C, XM_011518328.2:c.7377T>C, XM_011518328.1:c.7377T>C, XM_011518323.3:c.7377T>C, XM_011518323.2:c.7377T>C, XM_011518323.1:c.7377T>C, NM_015225.3:c.7377T>C, NM_015225.2:c.7377T>C, XM_005251754.3:c.7377T>C, XM_005251754.2:c.7377T>C, XM_005251754.1:c.7377T>C, XM_017014353.3:c.7377T>C, XM_017014353.2:c.7377T>C, XM_017014353.1:c.7377T>C, XM_006716982.2:c.7377T>C, XM_006716982.1:c.7377T>C, XM_006716983.2:c.7377T>C, XM_006716983.1:c.7377T>C, XM_006716985.2:c.7377T>C, XM_006716985.1:c.7377T>C, XM_006716986.2:c.7377T>C, XM_006716986.1:c.7377T>C, XM_005251745.2:c.7377T>C, XM_005251745.1:c.7377T>C, XM_005251746.2:c.7377T>C, XM_005251746.1:c.7377T>C, XM_005251748.2:c.7377T>C, XM_005251748.1:c.7377T>C, XM_005251750.2:c.7377T>C, XM_005251750.1:c.7377T>C, XM_017014346.2:c.7377T>C, XM_017014346.1:c.7377T>C, XM_011518327.2:c.7377T>C, XM_011518327.1:c.7377T>C, XM_017014348.2:c.7377T>C, XM_017014348.1:c.7377T>C, XM_017014349.2:c.7377T>C, XM_017014349.1:c.7377T>C, XM_005251751.2:c.7377T>C, XM_005251751.1:c.7377T>C, XM_017014351.2:c.7377T>C, XM_017014351.1:c.7377T>C, XM_017014352.2:c.7377T>C, XM_017014352.1:c.7377T>C, NM_001308048.2:c.7377T>C, NM_001308048.1:c.7377T>C, NM_001308047.2:c.7377T>C, NM_001308047.1:c.7377T>C, NR_131751.2:n.7325T>C, NR_131751.1:n.7298T>C, XM_047422880.1:c.7377T>C, XM_047422885.1:c.6849T>C, XM_047422883.1:c.7377T>C, XM_047422884.1:c.7377T>C, XM_047422876.1:c.7377T>C, XM_047422878.1:c.7377T>C, XM_047422879.1:c.7377T>C, XM_047422881.1:c.7377T>C, XM_047422882.1:c.7377T>C

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