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1.

rs1486565526 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    11:72110563 (GRCh38)
    11:71821609 (GRCh37)
    Canonical SPDI:
    NC_000011.10:72110562:A:G
    Gene:
    ANAPC15 (Varview), LRTOMT (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.72110563A>G, NC_000011.9:g.71821609A>G, NG_021423.1:g.35228A>G, NM_001145308.5:c.*1638A>G, NM_001145308.4:c.*1638A>G, NM_001145309.4:c.*1638A>G, NM_001145309.3:c.*1638A>G, NM_001145310.4:c.*1638A>G, NM_001145310.3:c.*1638A>G, NM_014042.3:c.161T>C, NM_014042.2:c.161T>C, NR_073187.2:n.3611A>G, NR_073188.2:n.3491A>G, NM_001330321.2:c.161T>C, NM_001330321.1:c.161T>C, NM_001278494.2:c.161T>C, NM_001278494.1:c.161T>C, NM_001278493.2:c.161T>C, NM_001278493.1:c.161T>C, NM_001278485.2:c.161T>C, NM_001278485.1:c.161T>C, NM_001278486.2:c.161T>C, NM_001278486.1:c.161T>C, NM_001278488.2:c.161T>C, NM_001278488.1:c.161T>C, NM_001278487.2:c.161T>C, NM_001278487.1:c.161T>C, NM_001278489.2:c.161T>C, NM_001278489.1:c.161T>C, NM_001278492.2:c.161T>C, NM_001278492.1:c.161T>C, NM_001278490.2:c.161T>C, NM_001278490.1:c.161T>C, NR_073187.1:n.3624A>G, NR_073188.1:n.3504A>G, NM_001393444.1:c.161T>C, NM_001393445.1:c.161T>C, NR_171687.1:n.297T>C, NM_001393443.1:c.161T>C, NM_001393431.1:c.161T>C, NM_001393427.1:c.161T>C, NM_001393428.1:c.161T>C, NM_001393429.1:c.161T>C, NM_001393430.1:c.161T>C, NM_001393459.1:c.-95T>C, NM_001393436.1:c.161T>C, NM_001393442.1:c.161T>C, NM_001393441.1:c.161T>C, NM_001393451.1:c.161T>C, NM_001393457.1:c.161T>C, NM_001393455.1:c.161T>C, NM_001393458.1:c.161T>C, NM_001393433.1:c.161T>C, NM_001393435.1:c.161T>C, NM_001393437.1:c.161T>C, NM_001393434.1:c.161T>C, NM_001393454.1:c.161T>C, NM_001393447.1:c.161T>C, NM_001393440.1:c.161T>C, NM_001393453.1:c.161T>C, NM_001393438.1:c.161T>C, NM_001393452.1:c.161T>C, NM_001278491.1:c.161T>C, NM_001393456.1:c.161T>C, NM_001393449.1:c.161T>C, NM_001393446.1:c.161T>C, XM_047426723.1:c.161T>C, NM_001393432.1:c.161T>C, NM_001393450.1:c.161T>C, NM_001393439.1:c.161T>C, NM_001393448.1:c.161T>C, NR_171685.1:n.172T>C, NR_171684.1:n.172T>C, NR_171686.1:n.87T>C, NP_054761.1:p.Ile54Thr, NP_001317250.1:p.Ile54Thr, NP_001265423.1:p.Ile54Thr, NP_001265422.1:p.Ile54Thr, NP_001265414.1:p.Ile54Thr, NP_001265415.1:p.Ile54Thr, NP_001265417.1:p.Ile54Thr, NP_001265416.1:p.Ile54Thr, NP_001265418.1:p.Ile54Thr, NP_001265421.1:p.Ile54Thr, NP_001265419.1:p.Ile54Thr, NP_001380373.1:p.Ile54Thr, NP_001380374.1:p.Ile54Thr, NP_001380372.1:p.Ile54Thr, NP_001380360.1:p.Ile54Thr, NP_001380356.1:p.Ile54Thr, NP_001380357.1:p.Ile54Thr, NP_001380358.1:p.Ile54Thr, NP_001380359.1:p.Ile54Thr, NP_001380365.1:p.Ile54Thr, NP_001380371.1:p.Ile54Thr, NP_001380370.1:p.Ile54Thr, NP_001380380.1:p.Ile54Thr, NP_001380386.1:p.Ile54Thr, NP_001380384.1:p.Ile54Thr, NP_001380387.1:p.Ile54Thr, NP_001380362.1:p.Ile54Thr, NP_001380364.1:p.Ile54Thr, NP_001380366.1:p.Ile54Thr, NP_001380363.1:p.Ile54Thr, NP_001380383.1:p.Ile54Thr, NP_001380376.1:p.Ile54Thr, NP_001380369.1:p.Ile54Thr, NP_001380382.1:p.Ile54Thr, NP_001380367.1:p.Ile54Thr, NP_001380381.1:p.Ile54Thr, NP_001265420.1:p.Ile54Thr, NP_001380385.1:p.Ile54Thr, NP_001380378.1:p.Ile54Thr, NP_001380375.1:p.Ile54Thr, XP_047282679.1:p.Ile54Thr, NP_001380361.1:p.Ile54Thr, NP_001380379.1:p.Ile54Thr, NP_001380368.1:p.Ile54Thr, NP_001380377.1:p.Ile54Thr

    2.

    rs1481762194 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ATC>- [Show Flanks]
      Chromosome:
      11:72110106 (GRCh38)
      11:71821152 (GRCh37)
      Canonical SPDI:
      NC_000011.10:72110101:CATCATC:CATC
      Gene:
      ANAPC15 (Varview), LRTOMT (Varview)
      Functional Consequence:
      inframe_deletion,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.72110103ATC[1], NC_000011.9:g.71821149ATC[1], NG_021423.1:g.34768ATC[1], NM_001145308.5:c.*1178ATC[1], NM_001145308.4:c.*1178ATC[1], NM_001145309.4:c.*1178ATC[1], NM_001145309.3:c.*1178ATC[1], NM_001145310.4:c.*1178ATC[1], NM_001145310.3:c.*1178ATC[1], NM_014042.3:c.299ATG[1], NM_014042.2:c.299ATG[1], NR_073187.2:n.3151ATC[1], NR_073188.2:n.3031ATC[1], NM_001330321.2:c.299ATG[1], NM_001330321.1:c.299ATG[1], NM_001278494.2:c.299ATG[1], NM_001278494.1:c.299ATG[1], NM_001278493.2:c.299ATG[1], NM_001278493.1:c.299ATG[1], NM_001278485.2:c.299ATG[1], NM_001278485.1:c.299ATG[1], NM_001278486.2:c.299ATG[1], NM_001278486.1:c.299ATG[1], NM_001278488.2:c.299ATG[1], NM_001278488.1:c.299ATG[1], NM_001278487.2:c.299ATG[1], NM_001278487.1:c.299ATG[1], NM_001278489.2:c.299ATG[1], NM_001278489.1:c.299ATG[1], NM_001278492.2:c.299ATG[1], NM_001278492.1:c.299ATG[1], NM_001278490.2:c.299ATG[1], NM_001278490.1:c.299ATG[1], NR_073187.1:n.3164ATC[1], NR_073188.1:n.3044ATC[1], NM_001393444.1:c.299ATG[1], NM_001393445.1:c.299ATG[1], NR_171687.1:n.435ATG[1], NM_001393443.1:c.299ATG[1], NM_001393431.1:c.299ATG[1], NM_001393427.1:c.299ATG[1], NM_001393428.1:c.299ATG[1], NM_001393429.1:c.299ATG[1], NM_001393430.1:c.299ATG[1], NM_001393459.1:c.44ATG[1], NM_001393436.1:c.335ATG[1], NM_001393442.1:c.299ATG[1], NM_001393441.1:c.299ATG[1], NM_001393451.1:c.299ATG[1], NM_001393457.1:c.299ATG[1], NM_001393455.1:c.299ATG[1], NM_001393458.1:c.299ATG[1], NM_001393433.1:c.335ATG[1], NM_001393435.1:c.335ATG[1], NM_001393437.1:c.299ATG[1], NM_001393434.1:c.335ATG[1], NM_001393454.1:c.299ATG[1], NM_001393447.1:c.299ATG[1], NM_001393440.1:c.299ATG[1], NM_001393453.1:c.299ATG[1], NM_001393438.1:c.299ATG[1], NM_001393452.1:c.299ATG[1], NM_001278491.1:c.299ATG[1], NM_001393456.1:c.299ATG[1], NM_001393449.1:c.299ATG[1], NM_001393446.1:c.299ATG[1], XM_047426723.1:c.299ATG[1], NM_001393432.1:c.335ATG[1], NM_001393450.1:c.299ATG[1], NM_001393439.1:c.299ATG[1], NM_001393448.1:c.299ATG[1], NR_171685.1:n.310ATG[1], NR_171684.1:n.310ATG[1], NR_171686.1:n.225ATG[1], NP_054761.1:p.Asp101del, NP_001317250.1:p.Asp101del, NP_001265423.1:p.Asp101del, NP_001265422.1:p.Asp101del, NP_001265414.1:p.Asp101del, NP_001265415.1:p.Asp101del, NP_001265417.1:p.Asp101del, NP_001265416.1:p.Asp101del, NP_001265418.1:p.Asp101del, NP_001265421.1:p.Asp101del, NP_001265419.1:p.Asp101del, NP_001380373.1:p.Asp101del, NP_001380374.1:p.Asp101del, NP_001380372.1:p.Asp101del, NP_001380360.1:p.Asp101del, NP_001380356.1:p.Asp101del, NP_001380357.1:p.Asp101del, NP_001380358.1:p.Asp101del, NP_001380359.1:p.Asp101del, NP_001380388.1:p.Asp16del, NP_001380365.1:p.Asp113del, NP_001380371.1:p.Asp101del, NP_001380370.1:p.Asp101del, NP_001380380.1:p.Asp101del, NP_001380386.1:p.Asp101del, NP_001380384.1:p.Asp101del, NP_001380387.1:p.Asp101del, NP_001380362.1:p.Asp113del, NP_001380364.1:p.Asp113del, NP_001380366.1:p.Asp101del, NP_001380363.1:p.Asp113del, NP_001380383.1:p.Asp101del, NP_001380376.1:p.Asp101del, NP_001380369.1:p.Asp101del, NP_001380382.1:p.Asp101del, NP_001380367.1:p.Asp101del, NP_001380381.1:p.Asp101del, NP_001265420.1:p.Asp101del, NP_001380385.1:p.Asp101del, NP_001380378.1:p.Asp101del, NP_001380375.1:p.Asp101del, XP_047282679.1:p.Asp101del, NP_001380361.1:p.Asp113del, NP_001380379.1:p.Asp101del, NP_001380368.1:p.Asp101del, NP_001380377.1:p.Asp101del

      3.

      rs1479468023 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ATC>- [Show Flanks]
        Chromosome:
        11:72110190 (GRCh38)
        11:71821236 (GRCh37)
        Canonical SPDI:
        NC_000011.10:72110184:TCATCATC:TCATC
        Gene:
        ANAPC15 (Varview), LRTOMT (Varview)
        Functional Consequence:
        3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,inframe_deletion
        Validated:
        by frequency,by cluster
        MAF:
        -=0.000007/1 (GnomAD)
        HGVS:
        NC_000011.10:g.72110187ATC[1], NC_000011.9:g.71821233ATC[1], NG_021423.1:g.34852ATC[1], NM_001145308.5:c.*1262ATC[1], NM_001145308.4:c.*1262ATC[1], NM_001145309.4:c.*1262ATC[1], NM_001145309.3:c.*1262ATC[1], NM_001145310.4:c.*1262ATC[1], NM_001145310.3:c.*1262ATC[1], NM_014042.3:c.216TGA[1], NM_014042.2:c.216TGA[1], NR_073187.2:n.3235ATC[1], NR_073188.2:n.3115ATC[1], NM_001330321.2:c.216TGA[1], NM_001330321.1:c.216TGA[1], NM_001278494.2:c.216TGA[1], NM_001278494.1:c.216TGA[1], NM_001278493.2:c.216TGA[1], NM_001278493.1:c.216TGA[1], NM_001278485.2:c.216TGA[1], NM_001278485.1:c.216TGA[1], NM_001278486.2:c.216TGA[1], NM_001278486.1:c.216TGA[1], NM_001278488.2:c.216TGA[1], NM_001278488.1:c.216TGA[1], NM_001278487.2:c.216TGA[1], NM_001278487.1:c.216TGA[1], NM_001278489.2:c.216TGA[1], NM_001278489.1:c.216TGA[1], NM_001278492.2:c.216TGA[1], NM_001278492.1:c.216TGA[1], NM_001278490.2:c.216TGA[1], NM_001278490.1:c.216TGA[1], NR_073187.1:n.3248ATC[1], NR_073188.1:n.3128ATC[1], NM_001393444.1:c.216TGA[1], NM_001393445.1:c.216TGA[1], NR_171687.1:n.352TGA[1], NM_001393443.1:c.216TGA[1], NM_001393431.1:c.216TGA[1], NM_001393427.1:c.216TGA[1], NM_001393428.1:c.216TGA[1], NM_001393429.1:c.216TGA[1], NM_001393430.1:c.216TGA[1], NM_001393459.1:c.-40TGA[1], NM_001393436.1:c.252TGA[1], NM_001393442.1:c.216TGA[1], NM_001393441.1:c.216TGA[1], NM_001393451.1:c.216TGA[1], NM_001393457.1:c.216TGA[1], NM_001393455.1:c.216TGA[1], NM_001393458.1:c.216TGA[1], NM_001393433.1:c.252TGA[1], NM_001393435.1:c.252TGA[1], NM_001393437.1:c.216TGA[1], NM_001393434.1:c.252TGA[1], NM_001393454.1:c.216TGA[1], NM_001393447.1:c.216TGA[1], NM_001393440.1:c.216TGA[1], NM_001393453.1:c.216TGA[1], NM_001393438.1:c.216TGA[1], NM_001393452.1:c.216TGA[1], NM_001278491.1:c.216TGA[1], NM_001393456.1:c.216TGA[1], NM_001393449.1:c.216TGA[1], NM_001393446.1:c.216TGA[1], XM_047426723.1:c.216TGA[1], NM_001393432.1:c.252TGA[1], NM_001393450.1:c.216TGA[1], NM_001393439.1:c.216TGA[1], NM_001393448.1:c.216TGA[1], NR_171685.1:n.227TGA[1], NR_171684.1:n.227TGA[1], NR_171686.1:n.142TGA[1], NP_054761.1:p.Asp73del, NP_001317250.1:p.Asp73del, NP_001265423.1:p.Asp73del, NP_001265422.1:p.Asp73del, NP_001265414.1:p.Asp73del, NP_001265415.1:p.Asp73del, NP_001265417.1:p.Asp73del, NP_001265416.1:p.Asp73del, NP_001265418.1:p.Asp73del, NP_001265421.1:p.Asp73del, NP_001265419.1:p.Asp73del, NP_001380373.1:p.Asp73del, NP_001380374.1:p.Asp73del, NP_001380372.1:p.Asp73del, NP_001380360.1:p.Asp73del, NP_001380356.1:p.Asp73del, NP_001380357.1:p.Asp73del, NP_001380358.1:p.Asp73del, NP_001380359.1:p.Asp73del, NP_001380365.1:p.Asp85del, NP_001380371.1:p.Asp73del, NP_001380370.1:p.Asp73del, NP_001380380.1:p.Asp73del, NP_001380386.1:p.Asp73del, NP_001380384.1:p.Asp73del, NP_001380387.1:p.Asp73del, NP_001380362.1:p.Asp85del, NP_001380364.1:p.Asp85del, NP_001380366.1:p.Asp73del, NP_001380363.1:p.Asp85del, NP_001380383.1:p.Asp73del, NP_001380376.1:p.Asp73del, NP_001380369.1:p.Asp73del, NP_001380382.1:p.Asp73del, NP_001380367.1:p.Asp73del, NP_001380381.1:p.Asp73del, NP_001265420.1:p.Asp73del, NP_001380385.1:p.Asp73del, NP_001380378.1:p.Asp73del, NP_001380375.1:p.Asp73del, XP_047282679.1:p.Asp73del, NP_001380361.1:p.Asp85del, NP_001380379.1:p.Asp73del, NP_001380368.1:p.Asp73del, NP_001380377.1:p.Asp73del

        4.

        rs1474331559 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          11:72109899 (GRCh38)
          11:71820945 (GRCh37)
          Canonical SPDI:
          NC_000011.10:72109898:C:G,NC_000011.10:72109898:C:T
          Gene:
          ANAPC15 (Varview), LRTOMT (Varview), TOMT (Varview)
          Functional Consequence:
          intron_variant,3_prime_UTR_variant,missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000011.10:g.72109899C>G, NC_000011.10:g.72109899C>T, NC_000011.9:g.71820945C>G, NC_000011.9:g.71820945C>T, NG_021423.1:g.34564C>G, NG_021423.1:g.34564C>T, NM_001145308.5:c.*974C>G, NM_001145308.5:c.*974C>T, NM_001145308.4:c.*974C>G, NM_001145308.4:c.*974C>T, NM_001145309.4:c.*974C>G, NM_001145309.4:c.*974C>T, NM_001145309.3:c.*974C>G, NM_001145309.3:c.*974C>T, NM_001145310.4:c.*974C>G, NM_001145310.4:c.*974C>T, NM_001145310.3:c.*974C>G, NM_001145310.3:c.*974C>T, NM_014042.3:c.348G>C, NM_014042.3:c.348G>A, NM_014042.2:c.348G>C, NM_014042.2:c.348G>A, NR_073187.2:n.2947C>G, NR_073187.2:n.2947C>T, NR_073188.2:n.2827C>G, NR_073188.2:n.2827C>T, NM_001278494.2:c.348G>C, NM_001278494.2:c.348G>A, NM_001278494.1:c.348G>C, NM_001278494.1:c.348G>A, NM_001278493.2:c.348G>C, NM_001278493.2:c.348G>A, NM_001278493.1:c.348G>C, NM_001278493.1:c.348G>A, NM_001278485.2:c.360G>C, NM_001278485.2:c.360G>A, NM_001278485.1:c.360G>C, NM_001278485.1:c.360G>A, NM_001278486.2:c.360G>C, NM_001278486.2:c.360G>A, NM_001278486.1:c.360G>C, NM_001278486.1:c.360G>A, NM_001278488.2:c.348G>C, NM_001278488.2:c.348G>A, NM_001278488.1:c.348G>C, NM_001278488.1:c.348G>A, NM_001278487.2:c.348G>C, NM_001278487.2:c.348G>A, NM_001278487.1:c.348G>C, NM_001278487.1:c.348G>A, NM_001278489.2:c.348G>C, NM_001278489.2:c.348G>A, NM_001278489.1:c.348G>C, NM_001278489.1:c.348G>A, NM_001278492.2:c.348G>C, NM_001278492.2:c.348G>A, NM_001278492.1:c.348G>C, NM_001278492.1:c.348G>A, NM_001278490.2:c.348G>C, NM_001278490.2:c.348G>A, NM_001278490.1:c.348G>C, NM_001278490.1:c.348G>A, NR_073187.1:n.2960C>G, NR_073187.1:n.2960C>T, NR_073188.1:n.2840C>G, NR_073188.1:n.2840C>T, NM_001393436.1:c.384G>C, NM_001393436.1:c.384G>A, NM_001393442.1:c.360G>C, NM_001393442.1:c.360G>A, NM_001393441.1:c.360G>C, NM_001393441.1:c.360G>A, NM_001393451.1:c.348G>C, NM_001393451.1:c.348G>A, NM_001393457.1:c.348G>C, NM_001393457.1:c.348G>A, NM_001393455.1:c.348G>C, NM_001393455.1:c.348G>A, NM_001393458.1:c.348G>C, NM_001393458.1:c.348G>A, NM_001393433.1:c.384G>C, NM_001393433.1:c.384G>A, NM_001393435.1:c.384G>C, NM_001393435.1:c.384G>A, NM_001393437.1:c.360G>C, NM_001393437.1:c.360G>A, NM_001393434.1:c.384G>C, NM_001393434.1:c.384G>A, NM_001393454.1:c.348G>C, NM_001393454.1:c.348G>A, NM_001393447.1:c.348G>C, NM_001393447.1:c.348G>A, NM_001393440.1:c.360G>C, NM_001393440.1:c.360G>A, NM_001393453.1:c.348G>C, NM_001393453.1:c.348G>A, NM_001393438.1:c.360G>C, NM_001393438.1:c.360G>A, NM_001393452.1:c.348G>C, NM_001393452.1:c.348G>A, NM_001278491.1:c.348G>C, NM_001278491.1:c.348G>A, NM_001393456.1:c.348G>C, NM_001393456.1:c.348G>A, NM_001393449.1:c.348G>C, NM_001393449.1:c.348G>A, NM_001393446.1:c.348G>C, NM_001393446.1:c.348G>A, XM_047426723.1:c.360G>C, XM_047426723.1:c.360G>A, NM_001393432.1:c.384G>C, NM_001393432.1:c.384G>A, NM_001393450.1:c.348G>C, NM_001393450.1:c.348G>A, NM_001393439.1:c.360G>C, NM_001393439.1:c.360G>A, NM_001393448.1:c.348G>C, NM_001393448.1:c.348G>A, NR_171685.1:n.371G>C, NR_171685.1:n.371G>A, NR_171684.1:n.359G>C, NR_171684.1:n.359G>A, NR_171686.1:n.274G>C, NR_171686.1:n.274G>A, NP_054761.1:p.Gln116His, NP_001265423.1:p.Gln116His, NP_001265422.1:p.Gln116His, NP_001265414.1:p.Gln120His, NP_001265415.1:p.Gln120His, NP_001265417.1:p.Gln116His, NP_001265416.1:p.Gln116His, NP_001265418.1:p.Gln116His, NP_001265421.1:p.Gln116His, NP_001265419.1:p.Gln116His, NP_001380365.1:p.Gln128His, NP_001380371.1:p.Gln120His, NP_001380370.1:p.Gln120His, NP_001380380.1:p.Gln116His, NP_001380386.1:p.Gln116His, NP_001380384.1:p.Gln116His, NP_001380387.1:p.Gln116His, NP_001380362.1:p.Gln128His, NP_001380364.1:p.Gln128His, NP_001380366.1:p.Gln120His, NP_001380363.1:p.Gln128His, NP_001380383.1:p.Gln116His, NP_001380376.1:p.Gln116His, NP_001380369.1:p.Gln120His, NP_001380382.1:p.Gln116His, NP_001380367.1:p.Gln120His, NP_001380381.1:p.Gln116His, NP_001265420.1:p.Gln116His, NP_001380385.1:p.Gln116His, NP_001380378.1:p.Gln116His, NP_001380375.1:p.Gln116His, XP_047282679.1:p.Gln120His, NP_001380361.1:p.Gln128His, NP_001380379.1:p.Gln116His, NP_001380368.1:p.Gln120His, NP_001380377.1:p.Gln116His

          5.

          rs1472776388 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            11:72109893 (GRCh38)
            11:71820939 (GRCh37)
            Canonical SPDI:
            NC_000011.10:72109892:C:
            Gene:
            ANAPC15 (Varview), LRTOMT (Varview), TOMT (Varview)
            Functional Consequence:
            intron_variant,3_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
            HGVS:
            NC_000011.10:g.72109893del, NC_000011.9:g.71820939del, NG_021423.1:g.34558del, NM_001145308.5:c.*968del, NM_001145308.4:c.*968del, NM_001145309.4:c.*968del, NM_001145309.3:c.*968del, NM_001145310.4:c.*968del, NM_001145310.3:c.*968del, NM_014042.3:c.354del, NM_014042.2:c.354del, NR_073187.2:n.2941del, NR_073188.2:n.2821del, NM_001278494.2:c.354del, NM_001278494.1:c.354del, NM_001278493.2:c.354del, NM_001278493.1:c.354del, NM_001278485.2:c.366del, NM_001278485.1:c.366del, NM_001278486.2:c.366del, NM_001278486.1:c.366del, NM_001278488.2:c.354del, NM_001278488.1:c.354del, NM_001278487.2:c.354del, NM_001278487.1:c.354del, NM_001278489.2:c.354del, NM_001278489.1:c.354del, NM_001278492.2:c.354del, NM_001278492.1:c.354del, NM_001278490.2:c.354del, NM_001278490.1:c.354del, NR_073187.1:n.2954del, NR_073188.1:n.2834del, NM_001393436.1:c.390del, NM_001393442.1:c.366del, NM_001393441.1:c.366del, NM_001393451.1:c.354del, NM_001393457.1:c.354del, NM_001393455.1:c.354del, NM_001393458.1:c.354del, NM_001393433.1:c.390del, NM_001393435.1:c.390del, NM_001393437.1:c.366del, NM_001393434.1:c.390del, NM_001393454.1:c.354del, NM_001393447.1:c.354del, NM_001393440.1:c.366del, NM_001393453.1:c.354del, NM_001393438.1:c.366del, NM_001393452.1:c.354del, NM_001278491.1:c.354del, NM_001393456.1:c.354del, NM_001393449.1:c.354del, NM_001393446.1:c.354del, XM_047426723.1:c.366del, NM_001393432.1:c.390del, NM_001393450.1:c.354del, NM_001393439.1:c.366del, NM_001393448.1:c.354del, NR_171685.1:n.377del, NR_171684.1:n.365del, NR_171686.1:n.280del, NP_054761.1:p.Gln118fs, NP_001265423.1:p.Gln118fs, NP_001265422.1:p.Gln118fs, NP_001265414.1:p.Gln122fs, NP_001265415.1:p.Gln122fs, NP_001265417.1:p.Gln118fs, NP_001265416.1:p.Gln118fs, NP_001265418.1:p.Gln118fs, NP_001265421.1:p.Gln118fs, NP_001265419.1:p.Gln118fs, NP_001380365.1:p.Gln130fs, NP_001380371.1:p.Gln122fs, NP_001380370.1:p.Gln122fs, NP_001380380.1:p.Gln118fs, NP_001380386.1:p.Gln118fs, NP_001380384.1:p.Gln118fs, NP_001380387.1:p.Gln118fs, NP_001380362.1:p.Gln130fs, NP_001380364.1:p.Gln130fs, NP_001380366.1:p.Gln122fs, NP_001380363.1:p.Gln130fs, NP_001380383.1:p.Gln118fs, NP_001380376.1:p.Gln118fs, NP_001380369.1:p.Gln122fs, NP_001380382.1:p.Gln118fs, NP_001380367.1:p.Gln122fs, NP_001380381.1:p.Gln118fs, NP_001265420.1:p.Gln118fs, NP_001380385.1:p.Gln118fs, NP_001380378.1:p.Gln118fs, NP_001380375.1:p.Gln118fs, XP_047282679.1:p.Gln122fs, NP_001380361.1:p.Gln130fs, NP_001380379.1:p.Gln118fs, NP_001380368.1:p.Gln122fs, NP_001380377.1:p.Gln118fs

            6.

            rs1469899576 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              11:72110150 (GRCh38)
              11:71821196 (GRCh37)
              Canonical SPDI:
              NC_000011.10:72110149:T:A
              Gene:
              ANAPC15 (Varview), LRTOMT (Varview)
              Functional Consequence:
              3_prime_UTR_variant,initiator_codon_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000011.10:g.72110150T>A, NC_000011.9:g.71821196T>A, NG_021423.1:g.34815T>A, NM_001145308.5:c.*1225T>A, NM_001145308.4:c.*1225T>A, NM_001145309.4:c.*1225T>A, NM_001145309.3:c.*1225T>A, NM_001145310.4:c.*1225T>A, NM_001145310.3:c.*1225T>A, NM_014042.3:c.256A>T, NM_014042.2:c.256A>T, NR_073187.2:n.3198T>A, NR_073188.2:n.3078T>A, NM_001330321.2:c.256A>T, NM_001330321.1:c.256A>T, NM_001278494.2:c.256A>T, NM_001278494.1:c.256A>T, NM_001278493.2:c.256A>T, NM_001278493.1:c.256A>T, NM_001278485.2:c.256A>T, NM_001278485.1:c.256A>T, NM_001278486.2:c.256A>T, NM_001278486.1:c.256A>T, NM_001278488.2:c.256A>T, NM_001278488.1:c.256A>T, NM_001278487.2:c.256A>T, NM_001278487.1:c.256A>T, NM_001278489.2:c.256A>T, NM_001278489.1:c.256A>T, NM_001278492.2:c.256A>T, NM_001278492.1:c.256A>T, NM_001278490.2:c.256A>T, NM_001278490.1:c.256A>T, NR_073187.1:n.3211T>A, NR_073188.1:n.3091T>A, NM_001393444.1:c.256A>T, NM_001393445.1:c.256A>T, NR_171687.1:n.392A>T, NM_001393443.1:c.256A>T, NM_001393431.1:c.256A>T, NM_001393427.1:c.256A>T, NM_001393428.1:c.256A>T, NM_001393429.1:c.256A>T, NM_001393430.1:c.256A>T, NM_001393459.1:c.1A>T, NM_001393436.1:c.292A>T, NM_001393442.1:c.256A>T, NM_001393441.1:c.256A>T, NM_001393451.1:c.256A>T, NM_001393457.1:c.256A>T, NM_001393455.1:c.256A>T, NM_001393458.1:c.256A>T, NM_001393433.1:c.292A>T, NM_001393435.1:c.292A>T, NM_001393437.1:c.256A>T, NM_001393434.1:c.292A>T, NM_001393454.1:c.256A>T, NM_001393447.1:c.256A>T, NM_001393440.1:c.256A>T, NM_001393453.1:c.256A>T, NM_001393438.1:c.256A>T, NM_001393452.1:c.256A>T, NM_001278491.1:c.256A>T, NM_001393456.1:c.256A>T, NM_001393449.1:c.256A>T, NM_001393446.1:c.256A>T, XM_047426723.1:c.256A>T, NM_001393432.1:c.292A>T, NM_001393450.1:c.256A>T, NM_001393439.1:c.256A>T, NM_001393448.1:c.256A>T, NR_171685.1:n.267A>T, NR_171684.1:n.267A>T, NR_171686.1:n.182A>T, NP_054761.1:p.Met86Leu, NP_001317250.1:p.Met86Leu, NP_001265423.1:p.Met86Leu, NP_001265422.1:p.Met86Leu, NP_001265414.1:p.Met86Leu, NP_001265415.1:p.Met86Leu, NP_001265417.1:p.Met86Leu, NP_001265416.1:p.Met86Leu, NP_001265418.1:p.Met86Leu, NP_001265421.1:p.Met86Leu, NP_001265419.1:p.Met86Leu, NP_001380373.1:p.Met86Leu, NP_001380374.1:p.Met86Leu, NP_001380372.1:p.Met86Leu, NP_001380360.1:p.Met86Leu, NP_001380356.1:p.Met86Leu, NP_001380357.1:p.Met86Leu, NP_001380358.1:p.Met86Leu, NP_001380359.1:p.Met86Leu, NP_001380388.1:p.Met1Leu, NP_001380365.1:p.Met98Leu, NP_001380371.1:p.Met86Leu, NP_001380370.1:p.Met86Leu, NP_001380380.1:p.Met86Leu, NP_001380386.1:p.Met86Leu, NP_001380384.1:p.Met86Leu, NP_001380387.1:p.Met86Leu, NP_001380362.1:p.Met98Leu, NP_001380364.1:p.Met98Leu, NP_001380366.1:p.Met86Leu, NP_001380363.1:p.Met98Leu, NP_001380383.1:p.Met86Leu, NP_001380376.1:p.Met86Leu, NP_001380369.1:p.Met86Leu, NP_001380382.1:p.Met86Leu, NP_001380367.1:p.Met86Leu, NP_001380381.1:p.Met86Leu, NP_001265420.1:p.Met86Leu, NP_001380385.1:p.Met86Leu, NP_001380378.1:p.Met86Leu, NP_001380375.1:p.Met86Leu, XP_047282679.1:p.Met86Leu, NP_001380361.1:p.Met98Leu, NP_001380379.1:p.Met86Leu, NP_001380368.1:p.Met86Leu, NP_001380377.1:p.Met86Leu

              7.

              rs1453510077 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:72110127 (GRCh38)
                11:71821173 (GRCh37)
                Canonical SPDI:
                NC_000011.10:72110126:A:G
                Gene:
                ANAPC15 (Varview), LRTOMT (Varview)
                Functional Consequence:
                non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.72110127A>G, NC_000011.9:g.71821173A>G, NG_021423.1:g.34792A>G, NM_001145308.5:c.*1202A>G, NM_001145308.4:c.*1202A>G, NM_001145309.4:c.*1202A>G, NM_001145309.3:c.*1202A>G, NM_001145310.4:c.*1202A>G, NM_001145310.3:c.*1202A>G, NM_014042.3:c.279T>C, NM_014042.2:c.279T>C, NR_073187.2:n.3175A>G, NR_073188.2:n.3055A>G, NM_001330321.2:c.279T>C, NM_001330321.1:c.279T>C, NM_001278494.2:c.279T>C, NM_001278494.1:c.279T>C, NM_001278493.2:c.279T>C, NM_001278493.1:c.279T>C, NM_001278485.2:c.279T>C, NM_001278485.1:c.279T>C, NM_001278486.2:c.279T>C, NM_001278486.1:c.279T>C, NM_001278488.2:c.279T>C, NM_001278488.1:c.279T>C, NM_001278487.2:c.279T>C, NM_001278487.1:c.279T>C, NM_001278489.2:c.279T>C, NM_001278489.1:c.279T>C, NM_001278492.2:c.279T>C, NM_001278492.1:c.279T>C, NM_001278490.2:c.279T>C, NM_001278490.1:c.279T>C, NR_073187.1:n.3188A>G, NR_073188.1:n.3068A>G, NM_001393444.1:c.279T>C, NM_001393445.1:c.279T>C, NR_171687.1:n.415T>C, NM_001393443.1:c.279T>C, NM_001393431.1:c.279T>C, NM_001393427.1:c.279T>C, NM_001393428.1:c.279T>C, NM_001393429.1:c.279T>C, NM_001393430.1:c.279T>C, NM_001393459.1:c.24T>C, NM_001393436.1:c.315T>C, NM_001393442.1:c.279T>C, NM_001393441.1:c.279T>C, NM_001393451.1:c.279T>C, NM_001393457.1:c.279T>C, NM_001393455.1:c.279T>C, NM_001393458.1:c.279T>C, NM_001393433.1:c.315T>C, NM_001393435.1:c.315T>C, NM_001393437.1:c.279T>C, NM_001393434.1:c.315T>C, NM_001393454.1:c.279T>C, NM_001393447.1:c.279T>C, NM_001393440.1:c.279T>C, NM_001393453.1:c.279T>C, NM_001393438.1:c.279T>C, NM_001393452.1:c.279T>C, NM_001278491.1:c.279T>C, NM_001393456.1:c.279T>C, NM_001393449.1:c.279T>C, NM_001393446.1:c.279T>C, XM_047426723.1:c.279T>C, NM_001393432.1:c.315T>C, NM_001393450.1:c.279T>C, NM_001393439.1:c.279T>C, NM_001393448.1:c.279T>C, NR_171685.1:n.290T>C, NR_171684.1:n.290T>C, NR_171686.1:n.205T>C

                8.

                rs1451526157 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  11:72111248 (GRCh38)
                  11:71822294 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:72111247:G:T
                  Gene:
                  ANAPC15 (Varview), LRTOMT (Varview)
                  Functional Consequence:
                  intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000011.10:g.72111248G>T, NC_000011.9:g.71822294G>T, NG_021423.1:g.35913G>T, NM_014042.3:c.29C>A, NM_014042.2:c.29C>A, NM_001330321.2:c.29C>A, NM_001330321.1:c.29C>A, NM_001278494.2:c.29C>A, NM_001278494.1:c.29C>A, NM_001278493.2:c.29C>A, NM_001278493.1:c.29C>A, NM_001278485.2:c.29C>A, NM_001278485.1:c.29C>A, NM_001278486.2:c.29C>A, NM_001278486.1:c.29C>A, NM_001278488.2:c.29C>A, NM_001278488.1:c.29C>A, NM_001278487.2:c.29C>A, NM_001278487.1:c.29C>A, NM_001278489.2:c.29C>A, NM_001278489.1:c.29C>A, NM_001278492.2:c.29C>A, NM_001278492.1:c.29C>A, NM_001278490.2:c.29C>A, NM_001278490.1:c.29C>A, NM_001393444.1:c.29C>A, NM_001393445.1:c.29C>A, NR_171687.1:n.165C>A, NM_001393443.1:c.29C>A, NM_001393431.1:c.29C>A, NM_001393427.1:c.29C>A, NM_001393428.1:c.29C>A, NM_001393429.1:c.29C>A, NM_001393430.1:c.29C>A, NM_001393436.1:c.29C>A, NM_001393442.1:c.29C>A, NM_001393441.1:c.29C>A, NM_001393451.1:c.29C>A, NM_001393457.1:c.29C>A, NM_001393455.1:c.29C>A, NM_001393458.1:c.29C>A, NM_001393433.1:c.29C>A, NM_001393435.1:c.29C>A, NM_001393437.1:c.29C>A, NM_001393434.1:c.29C>A, NM_001393454.1:c.29C>A, NM_001393447.1:c.29C>A, NM_001393440.1:c.29C>A, NM_001393453.1:c.29C>A, NM_001393438.1:c.29C>A, NM_001393452.1:c.29C>A, NM_001278491.1:c.29C>A, NM_001393456.1:c.29C>A, NM_001393449.1:c.29C>A, NM_001393446.1:c.29C>A, XM_047426723.1:c.29C>A, NM_001393432.1:c.29C>A, NM_001393450.1:c.29C>A, NM_001393439.1:c.29C>A, NM_001393448.1:c.29C>A, NP_054761.1:p.Pro10His, NP_001317250.1:p.Pro10His, NP_001265423.1:p.Pro10His, NP_001265422.1:p.Pro10His, NP_001265414.1:p.Pro10His, NP_001265415.1:p.Pro10His, NP_001265417.1:p.Pro10His, NP_001265416.1:p.Pro10His, NP_001265418.1:p.Pro10His, NP_001265421.1:p.Pro10His, NP_001265419.1:p.Pro10His, NP_001380373.1:p.Pro10His, NP_001380374.1:p.Pro10His, NP_001380372.1:p.Pro10His, NP_001380360.1:p.Pro10His, NP_001380356.1:p.Pro10His, NP_001380357.1:p.Pro10His, NP_001380358.1:p.Pro10His, NP_001380359.1:p.Pro10His, NP_001380365.1:p.Pro10His, NP_001380371.1:p.Pro10His, NP_001380370.1:p.Pro10His, NP_001380380.1:p.Pro10His, NP_001380386.1:p.Pro10His, NP_001380384.1:p.Pro10His, NP_001380387.1:p.Pro10His, NP_001380362.1:p.Pro10His, NP_001380364.1:p.Pro10His, NP_001380366.1:p.Pro10His, NP_001380363.1:p.Pro10His, NP_001380383.1:p.Pro10His, NP_001380376.1:p.Pro10His, NP_001380369.1:p.Pro10His, NP_001380382.1:p.Pro10His, NP_001380367.1:p.Pro10His, NP_001380381.1:p.Pro10His, NP_001265420.1:p.Pro10His, NP_001380385.1:p.Pro10His, NP_001380378.1:p.Pro10His, NP_001380375.1:p.Pro10His, XP_047282679.1:p.Pro10His, NP_001380361.1:p.Pro10His, NP_001380379.1:p.Pro10His, NP_001380368.1:p.Pro10His, NP_001380377.1:p.Pro10His

                  9.

                  rs1423476716 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ATCATCCTC>- [Show Flanks]
                    Chromosome:
                    11:72110157 (GRCh38)
                    11:71821203 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:72110150:ATCCTCATCATCCTC:ATCCTC
                    Gene:
                    ANAPC15 (Varview), LRTOMT (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,3_prime_UTR_variant,inframe_deletion
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATCCTC=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000011.10:g.72110157_72110165del, NC_000011.9:g.71821203_71821211del, NG_021423.1:g.34822_34830del, NM_001145308.5:c.*1232_*1240del, NM_001145308.4:c.*1232_*1240del, NM_001145309.4:c.*1232_*1240del, NM_001145309.3:c.*1232_*1240del, NM_001145310.4:c.*1232_*1240del, NM_001145310.3:c.*1232_*1240del, NM_014042.3:c.247_255del, NM_014042.2:c.247_255del, NR_073187.2:n.3205_3213del, NR_073188.2:n.3085_3093del, NM_001330321.2:c.247_255del, NM_001330321.1:c.247_255del, NM_001278494.2:c.247_255del, NM_001278494.1:c.247_255del, NM_001278493.2:c.247_255del, NM_001278493.1:c.247_255del, NM_001278485.2:c.247_255del, NM_001278485.1:c.247_255del, NM_001278486.2:c.247_255del, NM_001278486.1:c.247_255del, NM_001278488.2:c.247_255del, NM_001278488.1:c.247_255del, NM_001278487.2:c.247_255del, NM_001278487.1:c.247_255del, NM_001278489.2:c.247_255del, NM_001278489.1:c.247_255del, NM_001278492.2:c.247_255del, NM_001278492.1:c.247_255del, NM_001278490.2:c.247_255del, NM_001278490.1:c.247_255del, NR_073187.1:n.3218_3226del, NR_073188.1:n.3098_3106del, NM_001393444.1:c.247_255del, NM_001393445.1:c.247_255del, NR_171687.1:n.383_391del, NM_001393443.1:c.247_255del, NM_001393431.1:c.247_255del, NM_001393427.1:c.247_255del, NM_001393428.1:c.247_255del, NM_001393429.1:c.247_255del, NM_001393430.1:c.247_255del, NM_001393459.1:c.-9_-1del, NM_001393436.1:c.283_291del, NM_001393442.1:c.247_255del, NM_001393441.1:c.247_255del, NM_001393451.1:c.247_255del, NM_001393457.1:c.247_255del, NM_001393455.1:c.247_255del, NM_001393458.1:c.247_255del, NM_001393433.1:c.283_291del, NM_001393435.1:c.283_291del, NM_001393437.1:c.247_255del, NM_001393434.1:c.283_291del, NM_001393454.1:c.247_255del, NM_001393447.1:c.247_255del, NM_001393440.1:c.247_255del, NM_001393453.1:c.247_255del, NM_001393438.1:c.247_255del, NM_001393452.1:c.247_255del, NM_001278491.1:c.247_255del, NM_001393456.1:c.247_255del, NM_001393449.1:c.247_255del, NM_001393446.1:c.247_255del, XM_047426723.1:c.247_255del, NM_001393432.1:c.283_291del, NM_001393450.1:c.247_255del, NM_001393439.1:c.247_255del, NM_001393448.1:c.247_255del, NR_171685.1:n.258_266del, NR_171684.1:n.258_266del, NR_171686.1:n.173_181del, NP_054761.1:p.Asp83_Asp85del, NP_001317250.1:p.Asp83_Asp85del, NP_001265423.1:p.Asp83_Asp85del, NP_001265422.1:p.Asp83_Asp85del, NP_001265414.1:p.Asp83_Asp85del, NP_001265415.1:p.Asp83_Asp85del, NP_001265417.1:p.Asp83_Asp85del, NP_001265416.1:p.Asp83_Asp85del, NP_001265418.1:p.Asp83_Asp85del, NP_001265421.1:p.Asp83_Asp85del, NP_001265419.1:p.Asp83_Asp85del, NP_001380373.1:p.Asp83_Asp85del, NP_001380374.1:p.Asp83_Asp85del, NP_001380372.1:p.Asp83_Asp85del, NP_001380360.1:p.Asp83_Asp85del, NP_001380356.1:p.Asp83_Asp85del, NP_001380357.1:p.Asp83_Asp85del, NP_001380358.1:p.Asp83_Asp85del, NP_001380359.1:p.Asp83_Asp85del, NP_001380365.1:p.Asp95_Asp97del, NP_001380371.1:p.Asp83_Asp85del, NP_001380370.1:p.Asp83_Asp85del, NP_001380380.1:p.Asp83_Asp85del, NP_001380386.1:p.Asp83_Asp85del, NP_001380384.1:p.Asp83_Asp85del, NP_001380387.1:p.Asp83_Asp85del, NP_001380362.1:p.Asp95_Asp97del, NP_001380364.1:p.Asp95_Asp97del, NP_001380366.1:p.Asp83_Asp85del, NP_001380363.1:p.Asp95_Asp97del, NP_001380383.1:p.Asp83_Asp85del, NP_001380376.1:p.Asp83_Asp85del, NP_001380369.1:p.Asp83_Asp85del, NP_001380382.1:p.Asp83_Asp85del, NP_001380367.1:p.Asp83_Asp85del, NP_001380381.1:p.Asp83_Asp85del, NP_001265420.1:p.Asp83_Asp85del, NP_001380385.1:p.Asp83_Asp85del, NP_001380378.1:p.Asp83_Asp85del, NP_001380375.1:p.Asp83_Asp85del, XP_047282679.1:p.Asp83_Asp85del, NP_001380361.1:p.Asp95_Asp97del, NP_001380379.1:p.Asp83_Asp85del, NP_001380368.1:p.Asp83_Asp85del, NP_001380377.1:p.Asp83_Asp85del

                    10.

                    rs1417649814 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      11:72111212 (GRCh38)
                      11:71822258 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:72111211:C:A
                      Gene:
                      ANAPC15 (Varview), LRTOMT (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,500B_downstream_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.72111212C>A, NC_000011.9:g.71822258C>A, NG_021423.1:g.35877C>A, NM_014042.3:c.65G>T, NM_014042.2:c.65G>T, NM_001330321.2:c.65G>T, NM_001330321.1:c.65G>T, NM_001278494.2:c.65G>T, NM_001278494.1:c.65G>T, NM_001278493.2:c.65G>T, NM_001278493.1:c.65G>T, NM_001278485.2:c.65G>T, NM_001278485.1:c.65G>T, NM_001278486.2:c.65G>T, NM_001278486.1:c.65G>T, NM_001278488.2:c.65G>T, NM_001278488.1:c.65G>T, NM_001278487.2:c.65G>T, NM_001278487.1:c.65G>T, NM_001278489.2:c.65G>T, NM_001278489.1:c.65G>T, NM_001278492.2:c.65G>T, NM_001278492.1:c.65G>T, NM_001278490.2:c.65G>T, NM_001278490.1:c.65G>T, NM_001393444.1:c.65G>T, NM_001393445.1:c.65G>T, NR_171687.1:n.201G>T, NM_001393443.1:c.65G>T, NM_001393431.1:c.65G>T, NM_001393427.1:c.65G>T, NM_001393428.1:c.65G>T, NM_001393429.1:c.65G>T, NM_001393430.1:c.65G>T, NM_001393436.1:c.65G>T, NM_001393442.1:c.65G>T, NM_001393441.1:c.65G>T, NM_001393451.1:c.65G>T, NM_001393457.1:c.65G>T, NM_001393455.1:c.65G>T, NM_001393458.1:c.65G>T, NM_001393433.1:c.65G>T, NM_001393435.1:c.65G>T, NM_001393437.1:c.65G>T, NM_001393434.1:c.65G>T, NM_001393454.1:c.65G>T, NM_001393447.1:c.65G>T, NM_001393440.1:c.65G>T, NM_001393453.1:c.65G>T, NM_001393438.1:c.65G>T, NM_001393452.1:c.65G>T, NM_001278491.1:c.65G>T, NM_001393456.1:c.65G>T, NM_001393449.1:c.65G>T, NM_001393446.1:c.65G>T, XM_047426723.1:c.65G>T, NM_001393432.1:c.65G>T, NM_001393450.1:c.65G>T, NM_001393439.1:c.65G>T, NM_001393448.1:c.65G>T, NP_054761.1:p.Arg22Leu, NP_001317250.1:p.Arg22Leu, NP_001265423.1:p.Arg22Leu, NP_001265422.1:p.Arg22Leu, NP_001265414.1:p.Arg22Leu, NP_001265415.1:p.Arg22Leu, NP_001265417.1:p.Arg22Leu, NP_001265416.1:p.Arg22Leu, NP_001265418.1:p.Arg22Leu, NP_001265421.1:p.Arg22Leu, NP_001265419.1:p.Arg22Leu, NP_001380373.1:p.Arg22Leu, NP_001380374.1:p.Arg22Leu, NP_001380372.1:p.Arg22Leu, NP_001380360.1:p.Arg22Leu, NP_001380356.1:p.Arg22Leu, NP_001380357.1:p.Arg22Leu, NP_001380358.1:p.Arg22Leu, NP_001380359.1:p.Arg22Leu, NP_001380365.1:p.Arg22Leu, NP_001380371.1:p.Arg22Leu, NP_001380370.1:p.Arg22Leu, NP_001380380.1:p.Arg22Leu, NP_001380386.1:p.Arg22Leu, NP_001380384.1:p.Arg22Leu, NP_001380387.1:p.Arg22Leu, NP_001380362.1:p.Arg22Leu, NP_001380364.1:p.Arg22Leu, NP_001380366.1:p.Arg22Leu, NP_001380363.1:p.Arg22Leu, NP_001380383.1:p.Arg22Leu, NP_001380376.1:p.Arg22Leu, NP_001380369.1:p.Arg22Leu, NP_001380382.1:p.Arg22Leu, NP_001380367.1:p.Arg22Leu, NP_001380381.1:p.Arg22Leu, NP_001265420.1:p.Arg22Leu, NP_001380385.1:p.Arg22Leu, NP_001380378.1:p.Arg22Leu, NP_001380375.1:p.Arg22Leu, XP_047282679.1:p.Arg22Leu, NP_001380361.1:p.Arg22Leu, NP_001380379.1:p.Arg22Leu, NP_001380368.1:p.Arg22Leu, NP_001380377.1:p.Arg22Leu

                      11.

                      rs1413760431 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:72109940 (GRCh38)
                        11:71820986 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:72109939:G:A
                        Gene:
                        ANAPC15 (Varview), LRTOMT (Varview), TOMT (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,500B_downstream_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000012/3 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.72109940G>A, NC_000011.9:g.71820986G>A, NG_021423.1:g.34605G>A, NM_001145308.5:c.*1015G>A, NM_001145308.4:c.*1015G>A, NM_001145309.4:c.*1015G>A, NM_001145309.3:c.*1015G>A, NM_001145310.4:c.*1015G>A, NM_001145310.3:c.*1015G>A, NR_073187.2:n.2988G>A, NR_073188.2:n.2868G>A, NM_001278485.2:c.319C>T, NM_001278485.1:c.319C>T, NM_001278486.2:c.319C>T, NM_001278486.1:c.319C>T, NR_073187.1:n.3001G>A, NR_073188.1:n.2881G>A, NM_001393442.1:c.319C>T, NM_001393441.1:c.319C>T, NM_001393437.1:c.319C>T, NM_001393440.1:c.319C>T, NM_001393438.1:c.319C>T, XM_047426723.1:c.319C>T, NM_001393439.1:c.319C>T, NR_171685.1:n.330C>T, NP_001265414.1:p.Pro107Ser, NP_001265415.1:p.Pro107Ser, NP_001380371.1:p.Pro107Ser, NP_001380370.1:p.Pro107Ser, NP_001380366.1:p.Pro107Ser, NP_001380369.1:p.Pro107Ser, NP_001380367.1:p.Pro107Ser, XP_047282679.1:p.Pro107Ser, NP_001380368.1:p.Pro107Ser

                        12.

                        rs1412783056 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:72109908 (GRCh38)
                          11:71820954 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:72109907:T:C
                          Gene:
                          ANAPC15 (Varview), LRTOMT (Varview), TOMT (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,500B_downstream_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.72109908T>C, NC_000011.9:g.71820954T>C, NG_021423.1:g.34573T>C, NM_001145308.5:c.*983T>C, NM_001145308.4:c.*983T>C, NM_001145309.4:c.*983T>C, NM_001145309.3:c.*983T>C, NM_001145310.4:c.*983T>C, NM_001145310.3:c.*983T>C, NM_014042.3:c.339A>G, NM_014042.2:c.339A>G, NR_073187.2:n.2956T>C, NR_073188.2:n.2836T>C, NM_001278494.2:c.339A>G, NM_001278494.1:c.339A>G, NM_001278493.2:c.339A>G, NM_001278493.1:c.339A>G, NM_001278485.2:c.351A>G, NM_001278485.1:c.351A>G, NM_001278486.2:c.351A>G, NM_001278486.1:c.351A>G, NM_001278488.2:c.339A>G, NM_001278488.1:c.339A>G, NM_001278487.2:c.339A>G, NM_001278487.1:c.339A>G, NM_001278489.2:c.339A>G, NM_001278489.1:c.339A>G, NM_001278492.2:c.339A>G, NM_001278492.1:c.339A>G, NM_001278490.2:c.339A>G, NM_001278490.1:c.339A>G, NR_073187.1:n.2969T>C, NR_073188.1:n.2849T>C, NM_001393436.1:c.375A>G, NM_001393442.1:c.351A>G, NM_001393441.1:c.351A>G, NM_001393451.1:c.339A>G, NM_001393457.1:c.339A>G, NM_001393455.1:c.339A>G, NM_001393458.1:c.339A>G, NM_001393433.1:c.375A>G, NM_001393435.1:c.375A>G, NM_001393437.1:c.351A>G, NM_001393434.1:c.375A>G, NM_001393454.1:c.339A>G, NM_001393447.1:c.339A>G, NM_001393440.1:c.351A>G, NM_001393453.1:c.339A>G, NM_001393438.1:c.351A>G, NM_001393452.1:c.339A>G, NM_001278491.1:c.339A>G, NM_001393456.1:c.339A>G, NM_001393449.1:c.339A>G, NM_001393446.1:c.339A>G, XM_047426723.1:c.351A>G, NM_001393432.1:c.375A>G, NM_001393450.1:c.339A>G, NM_001393439.1:c.351A>G, NM_001393448.1:c.339A>G, NR_171685.1:n.362A>G, NR_171684.1:n.350A>G, NR_171686.1:n.265A>G

                          13.

                          rs1403460092 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:72110137 (GRCh38)
                            11:71821183 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:72110136:T:C
                            Gene:
                            ANAPC15 (Varview), LRTOMT (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_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_000011.10:g.72110137T>C, NC_000011.9:g.71821183T>C, NG_021423.1:g.34802T>C, NM_001145308.5:c.*1212T>C, NM_001145308.4:c.*1212T>C, NM_001145309.4:c.*1212T>C, NM_001145309.3:c.*1212T>C, NM_001145310.4:c.*1212T>C, NM_001145310.3:c.*1212T>C, NM_014042.3:c.269A>G, NM_014042.2:c.269A>G, NR_073187.2:n.3185T>C, NR_073188.2:n.3065T>C, NM_001330321.2:c.269A>G, NM_001330321.1:c.269A>G, NM_001278494.2:c.269A>G, NM_001278494.1:c.269A>G, NM_001278493.2:c.269A>G, NM_001278493.1:c.269A>G, NM_001278485.2:c.269A>G, NM_001278485.1:c.269A>G, NM_001278486.2:c.269A>G, NM_001278486.1:c.269A>G, NM_001278488.2:c.269A>G, NM_001278488.1:c.269A>G, NM_001278487.2:c.269A>G, NM_001278487.1:c.269A>G, NM_001278489.2:c.269A>G, NM_001278489.1:c.269A>G, NM_001278492.2:c.269A>G, NM_001278492.1:c.269A>G, NM_001278490.2:c.269A>G, NM_001278490.1:c.269A>G, NR_073187.1:n.3198T>C, NR_073188.1:n.3078T>C, NM_001393444.1:c.269A>G, NM_001393445.1:c.269A>G, NR_171687.1:n.405A>G, NM_001393443.1:c.269A>G, NM_001393431.1:c.269A>G, NM_001393427.1:c.269A>G, NM_001393428.1:c.269A>G, NM_001393429.1:c.269A>G, NM_001393430.1:c.269A>G, NM_001393459.1:c.14A>G, NM_001393436.1:c.305A>G, NM_001393442.1:c.269A>G, NM_001393441.1:c.269A>G, NM_001393451.1:c.269A>G, NM_001393457.1:c.269A>G, NM_001393455.1:c.269A>G, NM_001393458.1:c.269A>G, NM_001393433.1:c.305A>G, NM_001393435.1:c.305A>G, NM_001393437.1:c.269A>G, NM_001393434.1:c.305A>G, NM_001393454.1:c.269A>G, NM_001393447.1:c.269A>G, NM_001393440.1:c.269A>G, NM_001393453.1:c.269A>G, NM_001393438.1:c.269A>G, NM_001393452.1:c.269A>G, NM_001278491.1:c.269A>G, NM_001393456.1:c.269A>G, NM_001393449.1:c.269A>G, NM_001393446.1:c.269A>G, XM_047426723.1:c.269A>G, NM_001393432.1:c.305A>G, NM_001393450.1:c.269A>G, NM_001393439.1:c.269A>G, NM_001393448.1:c.269A>G, NR_171685.1:n.280A>G, NR_171684.1:n.280A>G, NR_171686.1:n.195A>G, NP_054761.1:p.Asp90Gly, NP_001317250.1:p.Asp90Gly, NP_001265423.1:p.Asp90Gly, NP_001265422.1:p.Asp90Gly, NP_001265414.1:p.Asp90Gly, NP_001265415.1:p.Asp90Gly, NP_001265417.1:p.Asp90Gly, NP_001265416.1:p.Asp90Gly, NP_001265418.1:p.Asp90Gly, NP_001265421.1:p.Asp90Gly, NP_001265419.1:p.Asp90Gly, NP_001380373.1:p.Asp90Gly, NP_001380374.1:p.Asp90Gly, NP_001380372.1:p.Asp90Gly, NP_001380360.1:p.Asp90Gly, NP_001380356.1:p.Asp90Gly, NP_001380357.1:p.Asp90Gly, NP_001380358.1:p.Asp90Gly, NP_001380359.1:p.Asp90Gly, NP_001380388.1:p.Asp5Gly, NP_001380365.1:p.Asp102Gly, NP_001380371.1:p.Asp90Gly, NP_001380370.1:p.Asp90Gly, NP_001380380.1:p.Asp90Gly, NP_001380386.1:p.Asp90Gly, NP_001380384.1:p.Asp90Gly, NP_001380387.1:p.Asp90Gly, NP_001380362.1:p.Asp102Gly, NP_001380364.1:p.Asp102Gly, NP_001380366.1:p.Asp90Gly, NP_001380363.1:p.Asp102Gly, NP_001380383.1:p.Asp90Gly, NP_001380376.1:p.Asp90Gly, NP_001380369.1:p.Asp90Gly, NP_001380382.1:p.Asp90Gly, NP_001380367.1:p.Asp90Gly, NP_001380381.1:p.Asp90Gly, NP_001265420.1:p.Asp90Gly, NP_001380385.1:p.Asp90Gly, NP_001380378.1:p.Asp90Gly, NP_001380375.1:p.Asp90Gly, XP_047282679.1:p.Asp90Gly, NP_001380361.1:p.Asp102Gly, NP_001380379.1:p.Asp90Gly, NP_001380368.1:p.Asp90Gly, NP_001380377.1:p.Asp90Gly

                            14.

                            rs1402569929 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:72109911 (GRCh38)
                              11:71820957 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:72109910:G:A
                              Gene:
                              ANAPC15 (Varview), LRTOMT (Varview), TOMT (Varview)
                              Functional Consequence:
                              500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000071/1 (TOMMO)
                              HGVS:
                              NC_000011.10:g.72109911G>A, NC_000011.9:g.71820957G>A, NG_021423.1:g.34576G>A, NM_001145308.5:c.*986G>A, NM_001145308.4:c.*986G>A, NM_001145309.4:c.*986G>A, NM_001145309.3:c.*986G>A, NM_001145310.4:c.*986G>A, NM_001145310.3:c.*986G>A, NM_014042.3:c.336C>T, NM_014042.2:c.336C>T, NR_073187.2:n.2959G>A, NR_073188.2:n.2839G>A, NM_001278494.2:c.336C>T, NM_001278494.1:c.336C>T, NM_001278493.2:c.336C>T, NM_001278493.1:c.336C>T, NM_001278485.2:c.348C>T, NM_001278485.1:c.348C>T, NM_001278486.2:c.348C>T, NM_001278486.1:c.348C>T, NM_001278488.2:c.336C>T, NM_001278488.1:c.336C>T, NM_001278487.2:c.336C>T, NM_001278487.1:c.336C>T, NM_001278489.2:c.336C>T, NM_001278489.1:c.336C>T, NM_001278492.2:c.336C>T, NM_001278492.1:c.336C>T, NM_001278490.2:c.336C>T, NM_001278490.1:c.336C>T, NR_073187.1:n.2972G>A, NR_073188.1:n.2852G>A, NM_001393436.1:c.372C>T, NM_001393442.1:c.348C>T, NM_001393441.1:c.348C>T, NM_001393451.1:c.336C>T, NM_001393457.1:c.336C>T, NM_001393455.1:c.336C>T, NM_001393458.1:c.336C>T, NM_001393433.1:c.372C>T, NM_001393435.1:c.372C>T, NM_001393437.1:c.348C>T, NM_001393434.1:c.372C>T, NM_001393454.1:c.336C>T, NM_001393447.1:c.336C>T, NM_001393440.1:c.348C>T, NM_001393453.1:c.336C>T, NM_001393438.1:c.348C>T, NM_001393452.1:c.336C>T, NM_001278491.1:c.336C>T, NM_001393456.1:c.336C>T, NM_001393449.1:c.336C>T, NM_001393446.1:c.336C>T, XM_047426723.1:c.348C>T, NM_001393432.1:c.372C>T, NM_001393450.1:c.336C>T, NM_001393439.1:c.348C>T, NM_001393448.1:c.336C>T, NR_171685.1:n.359C>T, NR_171684.1:n.347C>T, NR_171686.1:n.262C>T

                              15.

                              rs1400484644 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:72110548 (GRCh38)
                                11:71821594 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:72110547:G:A
                                Gene:
                                ANAPC15 (Varview), LRTOMT (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000011.10:g.72110548G>A, NC_000011.9:g.71821594G>A, NG_021423.1:g.35213G>A, NM_001145308.5:c.*1623G>A, NM_001145308.4:c.*1623G>A, NM_001145309.4:c.*1623G>A, NM_001145309.3:c.*1623G>A, NM_001145310.4:c.*1623G>A, NM_001145310.3:c.*1623G>A, NM_014042.3:c.176C>T, NM_014042.2:c.176C>T, NR_073187.2:n.3596G>A, NR_073188.2:n.3476G>A, NM_001330321.2:c.176C>T, NM_001330321.1:c.176C>T, NM_001278494.2:c.176C>T, NM_001278494.1:c.176C>T, NM_001278493.2:c.176C>T, NM_001278493.1:c.176C>T, NM_001278485.2:c.176C>T, NM_001278485.1:c.176C>T, NM_001278486.2:c.176C>T, NM_001278486.1:c.176C>T, NM_001278488.2:c.176C>T, NM_001278488.1:c.176C>T, NM_001278487.2:c.176C>T, NM_001278487.1:c.176C>T, NM_001278489.2:c.176C>T, NM_001278489.1:c.176C>T, NM_001278492.2:c.176C>T, NM_001278492.1:c.176C>T, NM_001278490.2:c.176C>T, NM_001278490.1:c.176C>T, NR_073187.1:n.3609G>A, NR_073188.1:n.3489G>A, NM_001393444.1:c.176C>T, NM_001393445.1:c.176C>T, NR_171687.1:n.312C>T, NM_001393443.1:c.176C>T, NM_001393431.1:c.176C>T, NM_001393427.1:c.176C>T, NM_001393428.1:c.176C>T, NM_001393429.1:c.176C>T, NM_001393430.1:c.176C>T, NM_001393459.1:c.-80C>T, NM_001393436.1:c.176C>T, NM_001393442.1:c.176C>T, NM_001393441.1:c.176C>T, NM_001393451.1:c.176C>T, NM_001393457.1:c.176C>T, NM_001393455.1:c.176C>T, NM_001393458.1:c.176C>T, NM_001393433.1:c.176C>T, NM_001393435.1:c.176C>T, NM_001393437.1:c.176C>T, NM_001393434.1:c.176C>T, NM_001393454.1:c.176C>T, NM_001393447.1:c.176C>T, NM_001393440.1:c.176C>T, NM_001393453.1:c.176C>T, NM_001393438.1:c.176C>T, NM_001393452.1:c.176C>T, NM_001278491.1:c.176C>T, NM_001393456.1:c.176C>T, NM_001393449.1:c.176C>T, NM_001393446.1:c.176C>T, XM_047426723.1:c.176C>T, NM_001393432.1:c.176C>T, NM_001393450.1:c.176C>T, NM_001393439.1:c.176C>T, NM_001393448.1:c.176C>T, NR_171685.1:n.187C>T, NR_171684.1:n.187C>T, NR_171686.1:n.102C>T, NP_054761.1:p.Ser59Leu, NP_001317250.1:p.Ser59Leu, NP_001265423.1:p.Ser59Leu, NP_001265422.1:p.Ser59Leu, NP_001265414.1:p.Ser59Leu, NP_001265415.1:p.Ser59Leu, NP_001265417.1:p.Ser59Leu, NP_001265416.1:p.Ser59Leu, NP_001265418.1:p.Ser59Leu, NP_001265421.1:p.Ser59Leu, NP_001265419.1:p.Ser59Leu, NP_001380373.1:p.Ser59Leu, NP_001380374.1:p.Ser59Leu, NP_001380372.1:p.Ser59Leu, NP_001380360.1:p.Ser59Leu, NP_001380356.1:p.Ser59Leu, NP_001380357.1:p.Ser59Leu, NP_001380358.1:p.Ser59Leu, NP_001380359.1:p.Ser59Leu, NP_001380365.1:p.Ser59Leu, NP_001380371.1:p.Ser59Leu, NP_001380370.1:p.Ser59Leu, NP_001380380.1:p.Ser59Leu, NP_001380386.1:p.Ser59Leu, NP_001380384.1:p.Ser59Leu, NP_001380387.1:p.Ser59Leu, NP_001380362.1:p.Ser59Leu, NP_001380364.1:p.Ser59Leu, NP_001380366.1:p.Ser59Leu, NP_001380363.1:p.Ser59Leu, NP_001380383.1:p.Ser59Leu, NP_001380376.1:p.Ser59Leu, NP_001380369.1:p.Ser59Leu, NP_001380382.1:p.Ser59Leu, NP_001380367.1:p.Ser59Leu, NP_001380381.1:p.Ser59Leu, NP_001265420.1:p.Ser59Leu, NP_001380385.1:p.Ser59Leu, NP_001380378.1:p.Ser59Leu, NP_001380375.1:p.Ser59Leu, XP_047282679.1:p.Ser59Leu, NP_001380361.1:p.Ser59Leu, NP_001380379.1:p.Ser59Leu, NP_001380368.1:p.Ser59Leu, NP_001380377.1:p.Ser59Leu

                                16.

                                rs1396831682 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  11:72111248 (GRCh38)
                                  11:71822294 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:72111247:GGG:GG
                                  Gene:
                                  ANAPC15 (Varview), LRTOMT (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant,500B_downstream_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.72111250del, NC_000011.9:g.71822296del, NG_021423.1:g.35915del, NM_014042.3:c.29del, NM_014042.2:c.29del, NM_001330321.2:c.29del, NM_001330321.1:c.29del, NM_001278494.2:c.29del, NM_001278494.1:c.29del, NM_001278493.2:c.29del, NM_001278493.1:c.29del, NM_001278485.2:c.29del, NM_001278485.1:c.29del, NM_001278486.2:c.29del, NM_001278486.1:c.29del, NM_001278488.2:c.29del, NM_001278488.1:c.29del, NM_001278487.2:c.29del, NM_001278487.1:c.29del, NM_001278489.2:c.29del, NM_001278489.1:c.29del, NM_001278492.2:c.29del, NM_001278492.1:c.29del, NM_001278490.2:c.29del, NM_001278490.1:c.29del, NM_001393444.1:c.29del, NM_001393445.1:c.29del, NR_171687.1:n.165del, NM_001393443.1:c.29del, NM_001393431.1:c.29del, NM_001393427.1:c.29del, NM_001393428.1:c.29del, NM_001393429.1:c.29del, NM_001393430.1:c.29del, NM_001393436.1:c.29del, NM_001393442.1:c.29del, NM_001393441.1:c.29del, NM_001393451.1:c.29del, NM_001393457.1:c.29del, NM_001393455.1:c.29del, NM_001393458.1:c.29del, NM_001393433.1:c.29del, NM_001393435.1:c.29del, NM_001393437.1:c.29del, NM_001393434.1:c.29del, NM_001393454.1:c.29del, NM_001393447.1:c.29del, NM_001393440.1:c.29del, NM_001393453.1:c.29del, NM_001393438.1:c.29del, NM_001393452.1:c.29del, NM_001278491.1:c.29del, NM_001393456.1:c.29del, NM_001393449.1:c.29del, NM_001393446.1:c.29del, XM_047426723.1:c.29del, NM_001393432.1:c.29del, NM_001393450.1:c.29del, NM_001393439.1:c.29del, NM_001393448.1:c.29del, NP_054761.1:p.Pro10fs, NP_001317250.1:p.Pro10fs, NP_001265423.1:p.Pro10fs, NP_001265422.1:p.Pro10fs, NP_001265414.1:p.Pro10fs, NP_001265415.1:p.Pro10fs, NP_001265417.1:p.Pro10fs, NP_001265416.1:p.Pro10fs, NP_001265418.1:p.Pro10fs, NP_001265421.1:p.Pro10fs, NP_001265419.1:p.Pro10fs, NP_001380373.1:p.Pro10fs, NP_001380374.1:p.Pro10fs, NP_001380372.1:p.Pro10fs, NP_001380360.1:p.Pro10fs, NP_001380356.1:p.Pro10fs, NP_001380357.1:p.Pro10fs, NP_001380358.1:p.Pro10fs, NP_001380359.1:p.Pro10fs, NP_001380365.1:p.Pro10fs, NP_001380371.1:p.Pro10fs, NP_001380370.1:p.Pro10fs, NP_001380380.1:p.Pro10fs, NP_001380386.1:p.Pro10fs, NP_001380384.1:p.Pro10fs, NP_001380387.1:p.Pro10fs, NP_001380362.1:p.Pro10fs, NP_001380364.1:p.Pro10fs, NP_001380366.1:p.Pro10fs, NP_001380363.1:p.Pro10fs, NP_001380383.1:p.Pro10fs, NP_001380376.1:p.Pro10fs, NP_001380369.1:p.Pro10fs, NP_001380382.1:p.Pro10fs, NP_001380367.1:p.Pro10fs, NP_001380381.1:p.Pro10fs, NP_001265420.1:p.Pro10fs, NP_001380385.1:p.Pro10fs, NP_001380378.1:p.Pro10fs, NP_001380375.1:p.Pro10fs, XP_047282679.1:p.Pro10fs, NP_001380361.1:p.Pro10fs, NP_001380379.1:p.Pro10fs, NP_001380368.1:p.Pro10fs, NP_001380377.1:p.Pro10fs

                                  17.

                                  rs1396349490 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:72109926 (GRCh38)
                                    11:71820972 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:72109925:C:T
                                    Gene:
                                    ANAPC15 (Varview), LRTOMT (Varview), TOMT (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,500B_downstream_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.72109926C>T, NC_000011.9:g.71820972C>T, NG_021423.1:g.34591C>T, NM_001145308.5:c.*1001C>T, NM_001145308.4:c.*1001C>T, NM_001145309.4:c.*1001C>T, NM_001145309.3:c.*1001C>T, NM_001145310.4:c.*1001C>T, NM_001145310.3:c.*1001C>T, NM_014042.3:c.321G>A, NM_014042.2:c.321G>A, NR_073187.2:n.2974C>T, NR_073188.2:n.2854C>T, NM_001278494.2:c.321G>A, NM_001278494.1:c.321G>A, NM_001278493.2:c.321G>A, NM_001278493.1:c.321G>A, NM_001278485.2:c.333G>A, NM_001278485.1:c.333G>A, NM_001278486.2:c.333G>A, NM_001278486.1:c.333G>A, NM_001278488.2:c.321G>A, NM_001278488.1:c.321G>A, NM_001278487.2:c.321G>A, NM_001278487.1:c.321G>A, NM_001278489.2:c.321G>A, NM_001278489.1:c.321G>A, NM_001278492.2:c.321G>A, NM_001278492.1:c.321G>A, NM_001278490.2:c.321G>A, NM_001278490.1:c.321G>A, NR_073187.1:n.2987C>T, NR_073188.1:n.2867C>T, NM_001393436.1:c.357G>A, NM_001393442.1:c.333G>A, NM_001393441.1:c.333G>A, NM_001393451.1:c.321G>A, NM_001393457.1:c.321G>A, NM_001393455.1:c.321G>A, NM_001393458.1:c.321G>A, NM_001393433.1:c.357G>A, NM_001393435.1:c.357G>A, NM_001393437.1:c.333G>A, NM_001393434.1:c.357G>A, NM_001393454.1:c.321G>A, NM_001393447.1:c.321G>A, NM_001393440.1:c.333G>A, NM_001393453.1:c.321G>A, NM_001393438.1:c.333G>A, NM_001393452.1:c.321G>A, NM_001278491.1:c.321G>A, NM_001393456.1:c.321G>A, NM_001393449.1:c.321G>A, NM_001393446.1:c.321G>A, XM_047426723.1:c.333G>A, NM_001393432.1:c.357G>A, NM_001393450.1:c.321G>A, NM_001393439.1:c.333G>A, NM_001393448.1:c.321G>A, NR_171685.1:n.344G>A, NR_171684.1:n.332G>A, NR_171686.1:n.247G>A

                                    18.

                                    rs1393195555 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:72110119 (GRCh38)
                                      11:71821165 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:72110118:T:C
                                      Gene:
                                      ANAPC15 (Varview), LRTOMT (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      C=0.00002/5 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.72110119T>C, NC_000011.9:g.71821165T>C, NG_021423.1:g.34784T>C, NM_001145308.5:c.*1194T>C, NM_001145308.4:c.*1194T>C, NM_001145309.4:c.*1194T>C, NM_001145309.3:c.*1194T>C, NM_001145310.4:c.*1194T>C, NM_001145310.3:c.*1194T>C, NM_014042.3:c.287A>G, NM_014042.2:c.287A>G, NR_073187.2:n.3167T>C, NR_073188.2:n.3047T>C, NM_001330321.2:c.287A>G, NM_001330321.1:c.287A>G, NM_001278494.2:c.287A>G, NM_001278494.1:c.287A>G, NM_001278493.2:c.287A>G, NM_001278493.1:c.287A>G, NM_001278485.2:c.287A>G, NM_001278485.1:c.287A>G, NM_001278486.2:c.287A>G, NM_001278486.1:c.287A>G, NM_001278488.2:c.287A>G, NM_001278488.1:c.287A>G, NM_001278487.2:c.287A>G, NM_001278487.1:c.287A>G, NM_001278489.2:c.287A>G, NM_001278489.1:c.287A>G, NM_001278492.2:c.287A>G, NM_001278492.1:c.287A>G, NM_001278490.2:c.287A>G, NM_001278490.1:c.287A>G, NR_073187.1:n.3180T>C, NR_073188.1:n.3060T>C, NM_001393444.1:c.287A>G, NM_001393445.1:c.287A>G, NR_171687.1:n.423A>G, NM_001393443.1:c.287A>G, NM_001393431.1:c.287A>G, NM_001393427.1:c.287A>G, NM_001393428.1:c.287A>G, NM_001393429.1:c.287A>G, NM_001393430.1:c.287A>G, NM_001393459.1:c.32A>G, NM_001393436.1:c.323A>G, NM_001393442.1:c.287A>G, NM_001393441.1:c.287A>G, NM_001393451.1:c.287A>G, NM_001393457.1:c.287A>G, NM_001393455.1:c.287A>G, NM_001393458.1:c.287A>G, NM_001393433.1:c.323A>G, NM_001393435.1:c.323A>G, NM_001393437.1:c.287A>G, NM_001393434.1:c.323A>G, NM_001393454.1:c.287A>G, NM_001393447.1:c.287A>G, NM_001393440.1:c.287A>G, NM_001393453.1:c.287A>G, NM_001393438.1:c.287A>G, NM_001393452.1:c.287A>G, NM_001278491.1:c.287A>G, NM_001393456.1:c.287A>G, NM_001393449.1:c.287A>G, NM_001393446.1:c.287A>G, XM_047426723.1:c.287A>G, NM_001393432.1:c.323A>G, NM_001393450.1:c.287A>G, NM_001393439.1:c.287A>G, NM_001393448.1:c.287A>G, NR_171685.1:n.298A>G, NR_171684.1:n.298A>G, NR_171686.1:n.213A>G, NP_054761.1:p.Asn96Ser, NP_001317250.1:p.Asn96Ser, NP_001265423.1:p.Asn96Ser, NP_001265422.1:p.Asn96Ser, NP_001265414.1:p.Asn96Ser, NP_001265415.1:p.Asn96Ser, NP_001265417.1:p.Asn96Ser, NP_001265416.1:p.Asn96Ser, NP_001265418.1:p.Asn96Ser, NP_001265421.1:p.Asn96Ser, NP_001265419.1:p.Asn96Ser, NP_001380373.1:p.Asn96Ser, NP_001380374.1:p.Asn96Ser, NP_001380372.1:p.Asn96Ser, NP_001380360.1:p.Asn96Ser, NP_001380356.1:p.Asn96Ser, NP_001380357.1:p.Asn96Ser, NP_001380358.1:p.Asn96Ser, NP_001380359.1:p.Asn96Ser, NP_001380388.1:p.Asn11Ser, NP_001380365.1:p.Asn108Ser, NP_001380371.1:p.Asn96Ser, NP_001380370.1:p.Asn96Ser, NP_001380380.1:p.Asn96Ser, NP_001380386.1:p.Asn96Ser, NP_001380384.1:p.Asn96Ser, NP_001380387.1:p.Asn96Ser, NP_001380362.1:p.Asn108Ser, NP_001380364.1:p.Asn108Ser, NP_001380366.1:p.Asn96Ser, NP_001380363.1:p.Asn108Ser, NP_001380383.1:p.Asn96Ser, NP_001380376.1:p.Asn96Ser, NP_001380369.1:p.Asn96Ser, NP_001380382.1:p.Asn96Ser, NP_001380367.1:p.Asn96Ser, NP_001380381.1:p.Asn96Ser, NP_001265420.1:p.Asn96Ser, NP_001380385.1:p.Asn96Ser, NP_001380378.1:p.Asn96Ser, NP_001380375.1:p.Asn96Ser, XP_047282679.1:p.Asn96Ser, NP_001380361.1:p.Asn108Ser, NP_001380379.1:p.Asn96Ser, NP_001380368.1:p.Asn96Ser, NP_001380377.1:p.Asn96Ser

                                      19.

                                      rs1373978370 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        11:72110187 (GRCh38)
                                        11:71821233 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:72110186:A:C
                                        Gene:
                                        ANAPC15 (Varview), LRTOMT (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000023/6 (TOPMED)
                                        HGVS:
                                        NC_000011.10:g.72110187A>C, NC_000011.9:g.71821233A>C, NG_021423.1:g.34852A>C, NM_001145308.5:c.*1262A>C, NM_001145308.4:c.*1262A>C, NM_001145309.4:c.*1262A>C, NM_001145309.3:c.*1262A>C, NM_001145310.4:c.*1262A>C, NM_001145310.3:c.*1262A>C, NM_014042.3:c.219T>G, NM_014042.2:c.219T>G, NR_073187.2:n.3235A>C, NR_073188.2:n.3115A>C, NM_001330321.2:c.219T>G, NM_001330321.1:c.219T>G, NM_001278494.2:c.219T>G, NM_001278494.1:c.219T>G, NM_001278493.2:c.219T>G, NM_001278493.1:c.219T>G, NM_001278485.2:c.219T>G, NM_001278485.1:c.219T>G, NM_001278486.2:c.219T>G, NM_001278486.1:c.219T>G, NM_001278488.2:c.219T>G, NM_001278488.1:c.219T>G, NM_001278487.2:c.219T>G, NM_001278487.1:c.219T>G, NM_001278489.2:c.219T>G, NM_001278489.1:c.219T>G, NM_001278492.2:c.219T>G, NM_001278492.1:c.219T>G, NM_001278490.2:c.219T>G, NM_001278490.1:c.219T>G, NR_073187.1:n.3248A>C, NR_073188.1:n.3128A>C, NM_001393444.1:c.219T>G, NM_001393445.1:c.219T>G, NR_171687.1:n.355T>G, NM_001393443.1:c.219T>G, NM_001393431.1:c.219T>G, NM_001393427.1:c.219T>G, NM_001393428.1:c.219T>G, NM_001393429.1:c.219T>G, NM_001393430.1:c.219T>G, NM_001393459.1:c.-37T>G, NM_001393436.1:c.255T>G, NM_001393442.1:c.219T>G, NM_001393441.1:c.219T>G, NM_001393451.1:c.219T>G, NM_001393457.1:c.219T>G, NM_001393455.1:c.219T>G, NM_001393458.1:c.219T>G, NM_001393433.1:c.255T>G, NM_001393435.1:c.255T>G, NM_001393437.1:c.219T>G, NM_001393434.1:c.255T>G, NM_001393454.1:c.219T>G, NM_001393447.1:c.219T>G, NM_001393440.1:c.219T>G, NM_001393453.1:c.219T>G, NM_001393438.1:c.219T>G, NM_001393452.1:c.219T>G, NM_001278491.1:c.219T>G, NM_001393456.1:c.219T>G, NM_001393449.1:c.219T>G, NM_001393446.1:c.219T>G, XM_047426723.1:c.219T>G, NM_001393432.1:c.255T>G, NM_001393450.1:c.219T>G, NM_001393439.1:c.219T>G, NM_001393448.1:c.219T>G, NR_171685.1:n.230T>G, NR_171684.1:n.230T>G, NR_171686.1:n.145T>G, NP_054761.1:p.Asp73Glu, NP_001317250.1:p.Asp73Glu, NP_001265423.1:p.Asp73Glu, NP_001265422.1:p.Asp73Glu, NP_001265414.1:p.Asp73Glu, NP_001265415.1:p.Asp73Glu, NP_001265417.1:p.Asp73Glu, NP_001265416.1:p.Asp73Glu, NP_001265418.1:p.Asp73Glu, NP_001265421.1:p.Asp73Glu, NP_001265419.1:p.Asp73Glu, NP_001380373.1:p.Asp73Glu, NP_001380374.1:p.Asp73Glu, NP_001380372.1:p.Asp73Glu, NP_001380360.1:p.Asp73Glu, NP_001380356.1:p.Asp73Glu, NP_001380357.1:p.Asp73Glu, NP_001380358.1:p.Asp73Glu, NP_001380359.1:p.Asp73Glu, NP_001380365.1:p.Asp85Glu, NP_001380371.1:p.Asp73Glu, NP_001380370.1:p.Asp73Glu, NP_001380380.1:p.Asp73Glu, NP_001380386.1:p.Asp73Glu, NP_001380384.1:p.Asp73Glu, NP_001380387.1:p.Asp73Glu, NP_001380362.1:p.Asp85Glu, NP_001380364.1:p.Asp85Glu, NP_001380366.1:p.Asp73Glu, NP_001380363.1:p.Asp85Glu, NP_001380383.1:p.Asp73Glu, NP_001380376.1:p.Asp73Glu, NP_001380369.1:p.Asp73Glu, NP_001380382.1:p.Asp73Glu, NP_001380367.1:p.Asp73Glu, NP_001380381.1:p.Asp73Glu, NP_001265420.1:p.Asp73Glu, NP_001380385.1:p.Asp73Glu, NP_001380378.1:p.Asp73Glu, NP_001380375.1:p.Asp73Glu, XP_047282679.1:p.Asp73Glu, NP_001380361.1:p.Asp85Glu, NP_001380379.1:p.Asp73Glu, NP_001380368.1:p.Asp73Glu, NP_001380377.1:p.Asp73Glu

                                        20.

                                        rs1343607138 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          11:72110557 (GRCh38)
                                          11:71821603 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:72110556:T:C
                                          Gene:
                                          ANAPC15 (Varview), LRTOMT (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.72110557T>C, NC_000011.9:g.71821603T>C, NG_021423.1:g.35222T>C, NM_001145308.5:c.*1632T>C, NM_001145308.4:c.*1632T>C, NM_001145309.4:c.*1632T>C, NM_001145309.3:c.*1632T>C, NM_001145310.4:c.*1632T>C, NM_001145310.3:c.*1632T>C, NM_014042.3:c.167A>G, NM_014042.2:c.167A>G, NR_073187.2:n.3605T>C, NR_073188.2:n.3485T>C, NM_001330321.2:c.167A>G, NM_001330321.1:c.167A>G, NM_001278494.2:c.167A>G, NM_001278494.1:c.167A>G, NM_001278493.2:c.167A>G, NM_001278493.1:c.167A>G, NM_001278485.2:c.167A>G, NM_001278485.1:c.167A>G, NM_001278486.2:c.167A>G, NM_001278486.1:c.167A>G, NM_001278488.2:c.167A>G, NM_001278488.1:c.167A>G, NM_001278487.2:c.167A>G, NM_001278487.1:c.167A>G, NM_001278489.2:c.167A>G, NM_001278489.1:c.167A>G, NM_001278492.2:c.167A>G, NM_001278492.1:c.167A>G, NM_001278490.2:c.167A>G, NM_001278490.1:c.167A>G, NR_073187.1:n.3618T>C, NR_073188.1:n.3498T>C, NM_001393444.1:c.167A>G, NM_001393445.1:c.167A>G, NR_171687.1:n.303A>G, NM_001393443.1:c.167A>G, NM_001393431.1:c.167A>G, NM_001393427.1:c.167A>G, NM_001393428.1:c.167A>G, NM_001393429.1:c.167A>G, NM_001393430.1:c.167A>G, NM_001393459.1:c.-89A>G, NM_001393436.1:c.167A>G, NM_001393442.1:c.167A>G, NM_001393441.1:c.167A>G, NM_001393451.1:c.167A>G, NM_001393457.1:c.167A>G, NM_001393455.1:c.167A>G, NM_001393458.1:c.167A>G, NM_001393433.1:c.167A>G, NM_001393435.1:c.167A>G, NM_001393437.1:c.167A>G, NM_001393434.1:c.167A>G, NM_001393454.1:c.167A>G, NM_001393447.1:c.167A>G, NM_001393440.1:c.167A>G, NM_001393453.1:c.167A>G, NM_001393438.1:c.167A>G, NM_001393452.1:c.167A>G, NM_001278491.1:c.167A>G, NM_001393456.1:c.167A>G, NM_001393449.1:c.167A>G, NM_001393446.1:c.167A>G, XM_047426723.1:c.167A>G, NM_001393432.1:c.167A>G, NM_001393450.1:c.167A>G, NM_001393439.1:c.167A>G, NM_001393448.1:c.167A>G, NR_171685.1:n.178A>G, NR_171684.1:n.178A>G, NR_171686.1:n.93A>G, NP_054761.1:p.Lys56Arg, NP_001317250.1:p.Lys56Arg, NP_001265423.1:p.Lys56Arg, NP_001265422.1:p.Lys56Arg, NP_001265414.1:p.Lys56Arg, NP_001265415.1:p.Lys56Arg, NP_001265417.1:p.Lys56Arg, NP_001265416.1:p.Lys56Arg, NP_001265418.1:p.Lys56Arg, NP_001265421.1:p.Lys56Arg, NP_001265419.1:p.Lys56Arg, NP_001380373.1:p.Lys56Arg, NP_001380374.1:p.Lys56Arg, NP_001380372.1:p.Lys56Arg, NP_001380360.1:p.Lys56Arg, NP_001380356.1:p.Lys56Arg, NP_001380357.1:p.Lys56Arg, NP_001380358.1:p.Lys56Arg, NP_001380359.1:p.Lys56Arg, NP_001380365.1:p.Lys56Arg, NP_001380371.1:p.Lys56Arg, NP_001380370.1:p.Lys56Arg, NP_001380380.1:p.Lys56Arg, NP_001380386.1:p.Lys56Arg, NP_001380384.1:p.Lys56Arg, NP_001380387.1:p.Lys56Arg, NP_001380362.1:p.Lys56Arg, NP_001380364.1:p.Lys56Arg, NP_001380366.1:p.Lys56Arg, NP_001380363.1:p.Lys56Arg, NP_001380383.1:p.Lys56Arg, NP_001380376.1:p.Lys56Arg, NP_001380369.1:p.Lys56Arg, NP_001380382.1:p.Lys56Arg, NP_001380367.1:p.Lys56Arg, NP_001380381.1:p.Lys56Arg, NP_001265420.1:p.Lys56Arg, NP_001380385.1:p.Lys56Arg, NP_001380378.1:p.Lys56Arg, NP_001380375.1:p.Lys56Arg, XP_047282679.1:p.Lys56Arg, NP_001380361.1:p.Lys56Arg, NP_001380379.1:p.Lys56Arg, NP_001380368.1:p.Lys56Arg, NP_001380377.1:p.Lys56Arg

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