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Items: 1 to 20 of 134

1.

rs1484190518 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:44935587 (GRCh38)
    11:44957138 (GRCh37)
    Canonical SPDI:
    NC_000011.10:44935586:G:A
    Gene:
    TP53I11 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000021/3 (GnomAD)
    HGVS:
    NC_000011.10:g.44935587G>A, NC_000011.9:g.44957138G>A, NM_006034.5:c.410C>T, NM_006034.4:c.410C>T, NM_006034.3:c.410C>T, XM_005253227.4:c.410C>T, XM_005253227.3:c.410C>T, XM_005253227.2:c.410C>T, XM_005253227.1:c.410C>T, XM_011520476.3:c.410C>T, XM_011520476.2:c.410C>T, XM_011520476.1:c.410C>T, NM_001258323.3:c.410C>T, NM_001258323.2:c.410C>T, NM_001258323.1:c.410C>T, XM_017018580.3:c.410C>T, XM_017018580.2:c.410C>T, XM_017018580.1:c.410C>T, NM_001258320.2:c.410C>T, NM_001258320.1:c.410C>T, NM_001318390.2:c.176C>T, NM_001318390.1:c.176C>T, XM_011520477.2:c.410C>T, XM_011520477.1:c.410C>T, NR_134612.2:n.779C>T, NR_134612.1:n.800C>T, XM_011520478.2:c.410C>T, XM_011520478.1:c.410C>T, NM_001318384.2:c.410C>T, NM_001318384.1:c.410C>T, XM_017018581.2:c.410C>T, XM_017018581.1:c.410C>T, NM_001318388.2:c.251C>T, NM_001318388.1:c.251C>T, NM_001318389.2:c.185C>T, NM_001318389.1:c.185C>T, NM_001318387.2:c.254C>T, NM_001318387.1:c.254C>T, NM_001258321.1:c.410C>T, NM_001318386.1:c.410C>T, NM_001076787.1:c.410C>T, NM_001318385.1:c.410C>T, NM_001258322.1:c.410C>T, NM_001258324.1:c.410C>T, XM_047427890.1:c.410C>T, XM_047427893.1:c.410C>T, XM_047427891.1:c.410C>T, XM_047427892.1:c.410C>T, NP_006025.2:p.Ala137Val, XP_005253284.1:p.Ala137Val, XP_011518778.1:p.Ala137Val, NP_001245252.1:p.Ala137Val, XP_016874069.1:p.Ala137Val, NP_001245249.1:p.Ala137Val, NP_001305319.1:p.Ala59Val, XP_011518779.1:p.Ala137Val, XP_011518780.1:p.Ala137Val, NP_001305313.1:p.Ala137Val, XP_016874070.1:p.Ala137Val, NP_001305317.1:p.Ala84Val, NP_001305318.1:p.Ala62Val, NP_001305316.1:p.Ala85Val, NP_001245250.1:p.Ala137Val, NP_001305315.1:p.Ala137Val, NP_001305314.1:p.Ala137Val, NP_001245251.1:p.Ala137Val, NP_001245253.1:p.Ala137Val, XP_047283846.1:p.Ala137Val, XP_047283849.1:p.Ala137Val, XP_047283847.1:p.Ala137Val, XP_047283848.1:p.Ala137Val

    2.

    rs1472827352 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      11:44938312 (GRCh38)
      11:44959863 (GRCh37)
      Canonical SPDI:
      NC_000011.10:44938311:A:C
      Gene:
      TP53I11 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.44938312A>C, NC_000011.9:g.44959863A>C, NM_006034.5:c.24T>G, NM_006034.4:c.24T>G, NM_006034.3:c.24T>G, XM_005253227.4:c.24T>G, XM_005253227.3:c.24T>G, XM_005253227.2:c.24T>G, XM_005253227.1:c.24T>G, XM_011520476.3:c.24T>G, XM_011520476.2:c.24T>G, XM_011520476.1:c.24T>G, NM_001258323.3:c.24T>G, NM_001258323.2:c.24T>G, NM_001258323.1:c.24T>G, XM_017018580.3:c.24T>G, XM_017018580.2:c.24T>G, XM_017018580.1:c.24T>G, NM_001258320.2:c.24T>G, NM_001258320.1:c.24T>G, NM_001318390.2:c.-406T>G, NM_001318390.1:c.-406T>G, XM_011520477.2:c.24T>G, XM_011520477.1:c.24T>G, NR_134612.2:n.262T>G, NR_134612.1:n.283T>G, XM_011520478.2:c.24T>G, XM_011520478.1:c.24T>G, NM_001318384.2:c.24T>G, NM_001318384.1:c.24T>G, XM_017018581.2:c.24T>G, XM_017018581.1:c.24T>G, NM_001318388.2:c.-77T>G, NM_001318388.1:c.-77T>G, NM_001318389.2:c.-125T>G, NM_001318389.1:c.-125T>G, NM_001318387.2:c.24T>G, NM_001318387.1:c.24T>G, XM_005253229.2:c.24T>G, XM_005253229.1:c.24T>G, NM_001258321.1:c.24T>G, NM_001318386.1:c.24T>G, NM_001076787.1:c.24T>G, NM_001318385.1:c.24T>G, NM_001258322.1:c.24T>G, NM_001258324.1:c.24T>G, XM_047427890.1:c.24T>G, XM_047427893.1:c.24T>G, XM_047427891.1:c.24T>G, XM_047427892.1:c.24T>G, XM_047427894.1:c.24T>G

      3.

      rs1471098656 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:44938317 (GRCh38)
        11:44959868 (GRCh37)
        Canonical SPDI:
        NC_000011.10:44938316:G:A
        Gene:
        TP53I11 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.44938317G>A, NC_000011.9:g.44959868G>A, NM_006034.5:c.19C>T, NM_006034.4:c.19C>T, NM_006034.3:c.19C>T, XM_005253227.4:c.19C>T, XM_005253227.3:c.19C>T, XM_005253227.2:c.19C>T, XM_005253227.1:c.19C>T, XM_011520476.3:c.19C>T, XM_011520476.2:c.19C>T, XM_011520476.1:c.19C>T, NM_001258323.3:c.19C>T, NM_001258323.2:c.19C>T, NM_001258323.1:c.19C>T, XM_017018580.3:c.19C>T, XM_017018580.2:c.19C>T, XM_017018580.1:c.19C>T, NM_001258320.2:c.19C>T, NM_001258320.1:c.19C>T, NM_001318390.2:c.-411C>T, NM_001318390.1:c.-411C>T, XM_011520477.2:c.19C>T, XM_011520477.1:c.19C>T, NR_134612.2:n.257C>T, NR_134612.1:n.278C>T, XM_011520478.2:c.19C>T, XM_011520478.1:c.19C>T, NM_001318384.2:c.19C>T, NM_001318384.1:c.19C>T, XM_017018581.2:c.19C>T, XM_017018581.1:c.19C>T, NM_001318388.2:c.-82C>T, NM_001318388.1:c.-82C>T, NM_001318389.2:c.-130C>T, NM_001318389.1:c.-130C>T, NM_001318387.2:c.19C>T, NM_001318387.1:c.19C>T, XM_005253229.2:c.19C>T, XM_005253229.1:c.19C>T, NM_001258321.1:c.19C>T, NM_001318386.1:c.19C>T, NM_001076787.1:c.19C>T, NM_001318385.1:c.19C>T, NM_001258322.1:c.19C>T, NM_001258324.1:c.19C>T, XM_047427890.1:c.19C>T, XM_047427893.1:c.19C>T, XM_047427891.1:c.19C>T, XM_047427892.1:c.19C>T, XM_047427894.1:c.19C>T, NP_006025.2:p.Pro7Ser, XP_005253284.1:p.Pro7Ser, XP_011518778.1:p.Pro7Ser, NP_001245252.1:p.Pro7Ser, XP_016874069.1:p.Pro7Ser, NP_001245249.1:p.Pro7Ser, XP_011518779.1:p.Pro7Ser, XP_011518780.1:p.Pro7Ser, NP_001305313.1:p.Pro7Ser, XP_016874070.1:p.Pro7Ser, NP_001305316.1:p.Pro7Ser, XP_005253286.1:p.Pro7Ser, NP_001245250.1:p.Pro7Ser, NP_001305315.1:p.Pro7Ser, NP_001305314.1:p.Pro7Ser, NP_001245251.1:p.Pro7Ser, NP_001245253.1:p.Pro7Ser, XP_047283846.1:p.Pro7Ser, XP_047283849.1:p.Pro7Ser, XP_047283847.1:p.Pro7Ser, XP_047283848.1:p.Pro7Ser, XP_047283850.1:p.Pro7Ser

        4.

        rs1470983007 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          11:44938251 (GRCh38)
          11:44959802 (GRCh37)
          Canonical SPDI:
          NC_000011.10:44938250:C:G
          Gene:
          TP53I11 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000011.10:g.44938251C>G, NC_000011.9:g.44959802C>G, NM_006034.5:c.85G>C, NM_006034.4:c.85G>C, NM_006034.3:c.85G>C, XM_005253227.4:c.85G>C, XM_005253227.3:c.85G>C, XM_005253227.2:c.85G>C, XM_005253227.1:c.85G>C, XM_011520476.3:c.85G>C, XM_011520476.2:c.85G>C, XM_011520476.1:c.85G>C, NM_001258323.3:c.85G>C, NM_001258323.2:c.85G>C, NM_001258323.1:c.85G>C, XM_017018580.3:c.85G>C, XM_017018580.2:c.85G>C, XM_017018580.1:c.85G>C, NM_001258320.2:c.85G>C, NM_001258320.1:c.85G>C, NM_001318390.2:c.-345G>C, NM_001318390.1:c.-345G>C, XM_011520477.2:c.85G>C, XM_011520477.1:c.85G>C, NR_134612.2:n.323G>C, NR_134612.1:n.344G>C, XM_011520478.2:c.85G>C, XM_011520478.1:c.85G>C, NM_001318384.2:c.85G>C, NM_001318384.1:c.85G>C, XM_017018581.2:c.85G>C, XM_017018581.1:c.85G>C, NM_001318388.2:c.-16G>C, NM_001318388.1:c.-16G>C, NM_001318389.2:c.-64G>C, NM_001318389.1:c.-64G>C, NM_001318387.2:c.85G>C, NM_001318387.1:c.85G>C, XM_005253229.2:c.85G>C, XM_005253229.1:c.85G>C, NM_001258321.1:c.85G>C, NM_001318386.1:c.85G>C, NM_001076787.1:c.85G>C, NM_001318385.1:c.85G>C, NM_001258322.1:c.85G>C, NM_001258324.1:c.85G>C, XM_047427890.1:c.85G>C, XM_047427893.1:c.85G>C, XM_047427891.1:c.85G>C, XM_047427892.1:c.85G>C, XM_047427894.1:c.85G>C, NP_006025.2:p.Gly29Arg, XP_005253284.1:p.Gly29Arg, XP_011518778.1:p.Gly29Arg, NP_001245252.1:p.Gly29Arg, XP_016874069.1:p.Gly29Arg, NP_001245249.1:p.Gly29Arg, XP_011518779.1:p.Gly29Arg, XP_011518780.1:p.Gly29Arg, NP_001305313.1:p.Gly29Arg, XP_016874070.1:p.Gly29Arg, NP_001305316.1:p.Gly29Arg, XP_005253286.1:p.Gly29Arg, NP_001245250.1:p.Gly29Arg, NP_001305315.1:p.Gly29Arg, NP_001305314.1:p.Gly29Arg, NP_001245251.1:p.Gly29Arg, NP_001245253.1:p.Gly29Arg, XP_047283846.1:p.Gly29Arg, XP_047283849.1:p.Gly29Arg, XP_047283847.1:p.Gly29Arg, XP_047283848.1:p.Gly29Arg, XP_047283850.1:p.Gly29Arg

          5.

          rs1463804412 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:44934914 (GRCh38)
            11:44956465 (GRCh37)
            Canonical SPDI:
            NC_000011.10:44934913:G:A
            Gene:
            TP53I11 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000011.10:g.44934914G>A, NC_000011.9:g.44956465G>A, NM_006034.5:c.540C>T, NM_006034.4:c.540C>T, NM_006034.3:c.540C>T, XM_005253227.4:c.540C>T, XM_005253227.3:c.540C>T, XM_005253227.2:c.540C>T, XM_005253227.1:c.540C>T, XM_011520476.3:c.540C>T, XM_011520476.2:c.540C>T, XM_011520476.1:c.540C>T, NM_001258323.3:c.540C>T, NM_001258323.2:c.540C>T, NM_001258323.1:c.540C>T, XM_017018580.3:c.540C>T, XM_017018580.2:c.540C>T, XM_017018580.1:c.540C>T, NM_001258320.2:c.540C>T, NM_001258320.1:c.540C>T, NM_001318390.2:c.306C>T, NM_001318390.1:c.306C>T, XM_011520477.2:c.540C>T, XM_011520477.1:c.540C>T, NR_134612.2:n.909C>T, NR_134612.1:n.930C>T, XM_011520478.2:c.540C>T, XM_011520478.1:c.540C>T, NM_001318384.2:c.540C>T, NM_001318384.1:c.540C>T, XM_017018581.2:c.540C>T, XM_017018581.1:c.540C>T, NM_001318388.2:c.381C>T, NM_001318388.1:c.381C>T, NM_001318389.2:c.315C>T, NM_001318389.1:c.315C>T, NM_001318387.2:c.384C>T, NM_001318387.1:c.384C>T, NM_001258321.1:c.540C>T, NM_001318386.1:c.540C>T, NM_001076787.1:c.540C>T, NM_001318385.1:c.540C>T, NM_001258322.1:c.540C>T, NM_001258324.1:c.540C>T, XM_047427890.1:c.540C>T, XM_047427893.1:c.540C>T, XM_047427891.1:c.540C>T, XM_047427892.1:c.540C>T

            6.

            rs1461879524 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              11:44937328 (GRCh38)
              11:44958879 (GRCh37)
              Canonical SPDI:
              NC_000011.10:44937327:C:A
              Gene:
              TP53I11 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
              HGVS:
              NC_000011.10:g.44937328C>A, NC_000011.9:g.44958879C>A, NM_006034.5:c.213G>T, NM_006034.4:c.213G>T, NM_006034.3:c.213G>T, XM_005253227.4:c.213G>T, XM_005253227.3:c.213G>T, XM_005253227.2:c.213G>T, XM_005253227.1:c.213G>T, XM_011520476.3:c.213G>T, XM_011520476.2:c.213G>T, XM_011520476.1:c.213G>T, NM_001258323.3:c.213G>T, NM_001258323.2:c.213G>T, NM_001258323.1:c.213G>T, XM_017018580.3:c.213G>T, XM_017018580.2:c.213G>T, XM_017018580.1:c.213G>T, NM_001258320.2:c.213G>T, NM_001258320.1:c.213G>T, NM_001318390.2:c.-217G>T, NM_001318390.1:c.-217G>T, XM_011520477.2:c.213G>T, XM_011520477.1:c.213G>T, NR_134612.2:n.451G>T, NR_134612.1:n.472G>T, XM_011520478.2:c.213G>T, XM_011520478.1:c.213G>T, NM_001318384.2:c.213G>T, NM_001318384.1:c.213G>T, XM_017018581.2:c.213G>T, XM_017018581.1:c.213G>T, NM_001318388.2:c.54G>T, NM_001318388.1:c.54G>T, NM_001318389.2:c.65G>T, NM_001318389.1:c.65G>T, NM_001318387.2:c.154G>T, NM_001318387.1:c.154G>T, XM_005253229.2:c.213G>T, XM_005253229.1:c.213G>T, NM_001258321.1:c.213G>T, NM_001318386.1:c.213G>T, NM_001076787.1:c.213G>T, NM_001318385.1:c.213G>T, NM_001258322.1:c.213G>T, NM_001258324.1:c.213G>T, XM_047427890.1:c.213G>T, XM_047427893.1:c.213G>T, XM_047427891.1:c.213G>T, XM_047427892.1:c.213G>T, XM_047427894.1:c.213G>T, NP_001305318.1:p.Cys22Phe, NP_001305316.1:p.Ala52Ser

              7.

              rs1457632072 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                11:44938280 (GRCh38)
                11:44959831 (GRCh37)
                Canonical SPDI:
                NC_000011.10:44938279:A:T
                Gene:
                TP53I11 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000011.10:g.44938280A>T, NC_000011.9:g.44959831A>T, NM_006034.5:c.56T>A, NM_006034.4:c.56T>A, NM_006034.3:c.56T>A, XM_005253227.4:c.56T>A, XM_005253227.3:c.56T>A, XM_005253227.2:c.56T>A, XM_005253227.1:c.56T>A, XM_011520476.3:c.56T>A, XM_011520476.2:c.56T>A, XM_011520476.1:c.56T>A, NM_001258323.3:c.56T>A, NM_001258323.2:c.56T>A, NM_001258323.1:c.56T>A, XM_017018580.3:c.56T>A, XM_017018580.2:c.56T>A, XM_017018580.1:c.56T>A, NM_001258320.2:c.56T>A, NM_001258320.1:c.56T>A, NM_001318390.2:c.-374T>A, NM_001318390.1:c.-374T>A, XM_011520477.2:c.56T>A, XM_011520477.1:c.56T>A, NR_134612.2:n.294T>A, NR_134612.1:n.315T>A, XM_011520478.2:c.56T>A, XM_011520478.1:c.56T>A, NM_001318384.2:c.56T>A, NM_001318384.1:c.56T>A, XM_017018581.2:c.56T>A, XM_017018581.1:c.56T>A, NM_001318388.2:c.-45T>A, NM_001318388.1:c.-45T>A, NM_001318389.2:c.-93T>A, NM_001318389.1:c.-93T>A, NM_001318387.2:c.56T>A, NM_001318387.1:c.56T>A, XM_005253229.2:c.56T>A, XM_005253229.1:c.56T>A, NM_001258321.1:c.56T>A, NM_001318386.1:c.56T>A, NM_001076787.1:c.56T>A, NM_001318385.1:c.56T>A, NM_001258322.1:c.56T>A, NM_001258324.1:c.56T>A, XM_047427890.1:c.56T>A, XM_047427893.1:c.56T>A, XM_047427891.1:c.56T>A, XM_047427892.1:c.56T>A, XM_047427894.1:c.56T>A, NP_006025.2:p.Val19Glu, XP_005253284.1:p.Val19Glu, XP_011518778.1:p.Val19Glu, NP_001245252.1:p.Val19Glu, XP_016874069.1:p.Val19Glu, NP_001245249.1:p.Val19Glu, XP_011518779.1:p.Val19Glu, XP_011518780.1:p.Val19Glu, NP_001305313.1:p.Val19Glu, XP_016874070.1:p.Val19Glu, NP_001305316.1:p.Val19Glu, XP_005253286.1:p.Val19Glu, NP_001245250.1:p.Val19Glu, NP_001305315.1:p.Val19Glu, NP_001305314.1:p.Val19Glu, NP_001245251.1:p.Val19Glu, NP_001245253.1:p.Val19Glu, XP_047283846.1:p.Val19Glu, XP_047283849.1:p.Val19Glu, XP_047283847.1:p.Val19Glu, XP_047283848.1:p.Val19Glu, XP_047283850.1:p.Val19Glu

                8.

                rs1454724831 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  11:44938246 (GRCh38)
                  11:44959797 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:44938245:C:A
                  Gene:
                  TP53I11 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  HGVS:
                  NC_000011.10:g.44938246C>A, NC_000011.9:g.44959797C>A, NM_006034.5:c.90G>T, NM_006034.4:c.90G>T, NM_006034.3:c.90G>T, XM_005253227.4:c.90G>T, XM_005253227.3:c.90G>T, XM_005253227.2:c.90G>T, XM_005253227.1:c.90G>T, XM_011520476.3:c.90G>T, XM_011520476.2:c.90G>T, XM_011520476.1:c.90G>T, NM_001258323.3:c.90G>T, NM_001258323.2:c.90G>T, NM_001258323.1:c.90G>T, XM_017018580.3:c.90G>T, XM_017018580.2:c.90G>T, XM_017018580.1:c.90G>T, NM_001258320.2:c.90G>T, NM_001258320.1:c.90G>T, NM_001318390.2:c.-340G>T, NM_001318390.1:c.-340G>T, XM_011520477.2:c.90G>T, XM_011520477.1:c.90G>T, NR_134612.2:n.328G>T, NR_134612.1:n.349G>T, XM_011520478.2:c.90G>T, XM_011520478.1:c.90G>T, NM_001318384.2:c.90G>T, NM_001318384.1:c.90G>T, XM_017018581.2:c.90G>T, XM_017018581.1:c.90G>T, NM_001318388.2:c.-11G>T, NM_001318388.1:c.-11G>T, NM_001318389.2:c.-59G>T, NM_001318389.1:c.-59G>T, NM_001318387.2:c.90G>T, NM_001318387.1:c.90G>T, XM_005253229.2:c.90G>T, XM_005253229.1:c.90G>T, NM_001258321.1:c.90G>T, NM_001318386.1:c.90G>T, NM_001076787.1:c.90G>T, NM_001318385.1:c.90G>T, NM_001258322.1:c.90G>T, NM_001258324.1:c.90G>T, XM_047427890.1:c.90G>T, XM_047427893.1:c.90G>T, XM_047427891.1:c.90G>T, XM_047427892.1:c.90G>T, XM_047427894.1:c.90G>T

                  9.

                  rs1447840900 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:44935009 (GRCh38)
                    11:44956560 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:44935008:C:T
                    Gene:
                    TP53I11 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_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.44935009C>T, NC_000011.9:g.44956560C>T, NM_006034.5:c.445G>A, NM_006034.4:c.445G>A, NM_006034.3:c.445G>A, XM_005253227.4:c.445G>A, XM_005253227.3:c.445G>A, XM_005253227.2:c.445G>A, XM_005253227.1:c.445G>A, XM_011520476.3:c.445G>A, XM_011520476.2:c.445G>A, XM_011520476.1:c.445G>A, NM_001258323.3:c.445G>A, NM_001258323.2:c.445G>A, NM_001258323.1:c.445G>A, XM_017018580.3:c.445G>A, XM_017018580.2:c.445G>A, XM_017018580.1:c.445G>A, NM_001258320.2:c.445G>A, NM_001258320.1:c.445G>A, NM_001318390.2:c.211G>A, NM_001318390.1:c.211G>A, XM_011520477.2:c.445G>A, XM_011520477.1:c.445G>A, NR_134612.2:n.814G>A, NR_134612.1:n.835G>A, XM_011520478.2:c.445G>A, XM_011520478.1:c.445G>A, NM_001318384.2:c.445G>A, NM_001318384.1:c.445G>A, XM_017018581.2:c.445G>A, XM_017018581.1:c.445G>A, NM_001318388.2:c.286G>A, NM_001318388.1:c.286G>A, NM_001318389.2:c.220G>A, NM_001318389.1:c.220G>A, NM_001318387.2:c.289G>A, NM_001318387.1:c.289G>A, NM_001258321.1:c.445G>A, NM_001318386.1:c.445G>A, NM_001076787.1:c.445G>A, NM_001318385.1:c.445G>A, NM_001258322.1:c.445G>A, NM_001258324.1:c.445G>A, XM_047427890.1:c.445G>A, XM_047427893.1:c.445G>A, XM_047427891.1:c.445G>A, XM_047427892.1:c.445G>A, NP_006025.2:p.Ala149Thr, XP_005253284.1:p.Ala149Thr, XP_011518778.1:p.Ala149Thr, NP_001245252.1:p.Ala149Thr, XP_016874069.1:p.Ala149Thr, NP_001245249.1:p.Ala149Thr, NP_001305319.1:p.Ala71Thr, XP_011518779.1:p.Ala149Thr, XP_011518780.1:p.Ala149Thr, NP_001305313.1:p.Ala149Thr, XP_016874070.1:p.Ala149Thr, NP_001305317.1:p.Ala96Thr, NP_001305318.1:p.Ala74Thr, NP_001305316.1:p.Ala97Thr, NP_001245250.1:p.Ala149Thr, NP_001305315.1:p.Ala149Thr, NP_001305314.1:p.Ala149Thr, NP_001245251.1:p.Ala149Thr, NP_001245253.1:p.Ala149Thr, XP_047283846.1:p.Ala149Thr, XP_047283849.1:p.Ala149Thr, XP_047283847.1:p.Ala149Thr, XP_047283848.1:p.Ala149Thr

                    10.

                    rs1446258482 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:44935660 (GRCh38)
                      11:44957211 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:44935659:T:C
                      Gene:
                      TP53I11 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.44935660T>C, NC_000011.9:g.44957211T>C, NM_006034.5:c.337A>G, NM_006034.4:c.337A>G, NM_006034.3:c.337A>G, XM_005253227.4:c.337A>G, XM_005253227.3:c.337A>G, XM_005253227.2:c.337A>G, XM_005253227.1:c.337A>G, XM_011520476.3:c.337A>G, XM_011520476.2:c.337A>G, XM_011520476.1:c.337A>G, NM_001258323.3:c.337A>G, NM_001258323.2:c.337A>G, NM_001258323.1:c.337A>G, XM_017018580.3:c.337A>G, XM_017018580.2:c.337A>G, XM_017018580.1:c.337A>G, NM_001258320.2:c.337A>G, NM_001258320.1:c.337A>G, NM_001318390.2:c.103A>G, NM_001318390.1:c.103A>G, XM_011520477.2:c.337A>G, XM_011520477.1:c.337A>G, NR_134612.2:n.706A>G, NR_134612.1:n.727A>G, XM_011520478.2:c.337A>G, XM_011520478.1:c.337A>G, NM_001318384.2:c.337A>G, NM_001318384.1:c.337A>G, XM_017018581.2:c.337A>G, XM_017018581.1:c.337A>G, NM_001318388.2:c.178A>G, NM_001318388.1:c.178A>G, NM_001318389.2:c.112A>G, NM_001318389.1:c.112A>G, NM_001318387.2:c.181A>G, NM_001318387.1:c.181A>G, NM_001258321.1:c.337A>G, NM_001318386.1:c.337A>G, NM_001076787.1:c.337A>G, NM_001318385.1:c.337A>G, NM_001258322.1:c.337A>G, NM_001258324.1:c.337A>G, XM_047427890.1:c.337A>G, XM_047427893.1:c.337A>G, XM_047427891.1:c.337A>G, XM_047427892.1:c.337A>G, NP_006025.2:p.Ile113Val, XP_005253284.1:p.Ile113Val, XP_011518778.1:p.Ile113Val, NP_001245252.1:p.Ile113Val, XP_016874069.1:p.Ile113Val, NP_001245249.1:p.Ile113Val, NP_001305319.1:p.Ile35Val, XP_011518779.1:p.Ile113Val, XP_011518780.1:p.Ile113Val, NP_001305313.1:p.Ile113Val, XP_016874070.1:p.Ile113Val, NP_001305317.1:p.Ile60Val, NP_001305318.1:p.Ile38Val, NP_001305316.1:p.Ile61Val, NP_001245250.1:p.Ile113Val, NP_001305315.1:p.Ile113Val, NP_001305314.1:p.Ile113Val, NP_001245251.1:p.Ile113Val, NP_001245253.1:p.Ile113Val, XP_047283846.1:p.Ile113Val, XP_047283849.1:p.Ile113Val, XP_047283847.1:p.Ile113Val, XP_047283848.1:p.Ile113Val

                      11.

                      rs1445843793 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        11:44938238 (GRCh38)
                        11:44959789 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:44938237:T:C
                        Gene:
                        TP53I11 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.44938238T>C, NC_000011.9:g.44959789T>C, NM_006034.5:c.98A>G, NM_006034.4:c.98A>G, NM_006034.3:c.98A>G, XM_005253227.4:c.98A>G, XM_005253227.3:c.98A>G, XM_005253227.2:c.98A>G, XM_005253227.1:c.98A>G, XM_011520476.3:c.98A>G, XM_011520476.2:c.98A>G, XM_011520476.1:c.98A>G, NM_001258323.3:c.98A>G, NM_001258323.2:c.98A>G, NM_001258323.1:c.98A>G, XM_017018580.3:c.98A>G, XM_017018580.2:c.98A>G, XM_017018580.1:c.98A>G, NM_001258320.2:c.98A>G, NM_001258320.1:c.98A>G, NM_001318390.2:c.-332A>G, NM_001318390.1:c.-332A>G, XM_011520477.2:c.98A>G, XM_011520477.1:c.98A>G, NR_134612.2:n.336A>G, NR_134612.1:n.357A>G, XM_011520478.2:c.98A>G, XM_011520478.1:c.98A>G, NM_001318384.2:c.98A>G, NM_001318384.1:c.98A>G, XM_017018581.2:c.98A>G, XM_017018581.1:c.98A>G, NM_001318388.2:c.-3A>G, NM_001318388.1:c.-3A>G, NM_001318389.2:c.-51A>G, NM_001318389.1:c.-51A>G, NM_001318387.2:c.98A>G, NM_001318387.1:c.98A>G, XM_005253229.2:c.98A>G, XM_005253229.1:c.98A>G, NM_001258321.1:c.98A>G, NM_001318386.1:c.98A>G, NM_001076787.1:c.98A>G, NM_001318385.1:c.98A>G, NM_001258322.1:c.98A>G, NM_001258324.1:c.98A>G, XM_047427890.1:c.98A>G, XM_047427893.1:c.98A>G, XM_047427891.1:c.98A>G, XM_047427892.1:c.98A>G, XM_047427894.1:c.98A>G, NP_006025.2:p.Glu33Gly, XP_005253284.1:p.Glu33Gly, XP_011518778.1:p.Glu33Gly, NP_001245252.1:p.Glu33Gly, XP_016874069.1:p.Glu33Gly, NP_001245249.1:p.Glu33Gly, XP_011518779.1:p.Glu33Gly, XP_011518780.1:p.Glu33Gly, NP_001305313.1:p.Glu33Gly, XP_016874070.1:p.Glu33Gly, NP_001305316.1:p.Glu33Gly, XP_005253286.1:p.Glu33Gly, NP_001245250.1:p.Glu33Gly, NP_001305315.1:p.Glu33Gly, NP_001305314.1:p.Glu33Gly, NP_001245251.1:p.Glu33Gly, NP_001245253.1:p.Glu33Gly, XP_047283846.1:p.Glu33Gly, XP_047283849.1:p.Glu33Gly, XP_047283847.1:p.Glu33Gly, XP_047283848.1:p.Glu33Gly, XP_047283850.1:p.Glu33Gly

                        12.

                        rs1428315571 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:44935006 (GRCh38)
                          11:44956557 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:44935005:T:C
                          Gene:
                          TP53I11 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000011.10:g.44935006T>C, NC_000011.9:g.44956557T>C, NM_006034.5:c.448A>G, NM_006034.4:c.448A>G, NM_006034.3:c.448A>G, XM_005253227.4:c.448A>G, XM_005253227.3:c.448A>G, XM_005253227.2:c.448A>G, XM_005253227.1:c.448A>G, XM_011520476.3:c.448A>G, XM_011520476.2:c.448A>G, XM_011520476.1:c.448A>G, NM_001258323.3:c.448A>G, NM_001258323.2:c.448A>G, NM_001258323.1:c.448A>G, XM_017018580.3:c.448A>G, XM_017018580.2:c.448A>G, XM_017018580.1:c.448A>G, NM_001258320.2:c.448A>G, NM_001258320.1:c.448A>G, NM_001318390.2:c.214A>G, NM_001318390.1:c.214A>G, XM_011520477.2:c.448A>G, XM_011520477.1:c.448A>G, NR_134612.2:n.817A>G, NR_134612.1:n.838A>G, XM_011520478.2:c.448A>G, XM_011520478.1:c.448A>G, NM_001318384.2:c.448A>G, NM_001318384.1:c.448A>G, XM_017018581.2:c.448A>G, XM_017018581.1:c.448A>G, NM_001318388.2:c.289A>G, NM_001318388.1:c.289A>G, NM_001318389.2:c.223A>G, NM_001318389.1:c.223A>G, NM_001318387.2:c.292A>G, NM_001318387.1:c.292A>G, NM_001258321.1:c.448A>G, NM_001318386.1:c.448A>G, NM_001076787.1:c.448A>G, NM_001318385.1:c.448A>G, NM_001258322.1:c.448A>G, NM_001258324.1:c.448A>G, XM_047427890.1:c.448A>G, XM_047427893.1:c.448A>G, XM_047427891.1:c.448A>G, XM_047427892.1:c.448A>G, NP_006025.2:p.Thr150Ala, XP_005253284.1:p.Thr150Ala, XP_011518778.1:p.Thr150Ala, NP_001245252.1:p.Thr150Ala, XP_016874069.1:p.Thr150Ala, NP_001245249.1:p.Thr150Ala, NP_001305319.1:p.Thr72Ala, XP_011518779.1:p.Thr150Ala, XP_011518780.1:p.Thr150Ala, NP_001305313.1:p.Thr150Ala, XP_016874070.1:p.Thr150Ala, NP_001305317.1:p.Thr97Ala, NP_001305318.1:p.Thr75Ala, NP_001305316.1:p.Thr98Ala, NP_001245250.1:p.Thr150Ala, NP_001305315.1:p.Thr150Ala, NP_001305314.1:p.Thr150Ala, NP_001245251.1:p.Thr150Ala, NP_001245253.1:p.Thr150Ala, XP_047283846.1:p.Thr150Ala, XP_047283849.1:p.Thr150Ala, XP_047283847.1:p.Thr150Ala, XP_047283848.1:p.Thr150Ala

                          13.

                          rs1425898100 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:44938260 (GRCh38)
                            11:44959811 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:44938259:T:C
                            Gene:
                            TP53I11 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000011.10:g.44938260T>C, NC_000011.9:g.44959811T>C, NM_006034.5:c.76A>G, NM_006034.4:c.76A>G, NM_006034.3:c.76A>G, XM_005253227.4:c.76A>G, XM_005253227.3:c.76A>G, XM_005253227.2:c.76A>G, XM_005253227.1:c.76A>G, XM_011520476.3:c.76A>G, XM_011520476.2:c.76A>G, XM_011520476.1:c.76A>G, NM_001258323.3:c.76A>G, NM_001258323.2:c.76A>G, NM_001258323.1:c.76A>G, XM_017018580.3:c.76A>G, XM_017018580.2:c.76A>G, XM_017018580.1:c.76A>G, NM_001258320.2:c.76A>G, NM_001258320.1:c.76A>G, NM_001318390.2:c.-354A>G, NM_001318390.1:c.-354A>G, XM_011520477.2:c.76A>G, XM_011520477.1:c.76A>G, NR_134612.2:n.314A>G, NR_134612.1:n.335A>G, XM_011520478.2:c.76A>G, XM_011520478.1:c.76A>G, NM_001318384.2:c.76A>G, NM_001318384.1:c.76A>G, XM_017018581.2:c.76A>G, XM_017018581.1:c.76A>G, NM_001318388.2:c.-25A>G, NM_001318388.1:c.-25A>G, NM_001318389.2:c.-73A>G, NM_001318389.1:c.-73A>G, NM_001318387.2:c.76A>G, NM_001318387.1:c.76A>G, XM_005253229.2:c.76A>G, XM_005253229.1:c.76A>G, NM_001258321.1:c.76A>G, NM_001318386.1:c.76A>G, NM_001076787.1:c.76A>G, NM_001318385.1:c.76A>G, NM_001258322.1:c.76A>G, NM_001258324.1:c.76A>G, XM_047427890.1:c.76A>G, XM_047427893.1:c.76A>G, XM_047427891.1:c.76A>G, XM_047427892.1:c.76A>G, XM_047427894.1:c.76A>G, NP_006025.2:p.Lys26Glu, XP_005253284.1:p.Lys26Glu, XP_011518778.1:p.Lys26Glu, NP_001245252.1:p.Lys26Glu, XP_016874069.1:p.Lys26Glu, NP_001245249.1:p.Lys26Glu, XP_011518779.1:p.Lys26Glu, XP_011518780.1:p.Lys26Glu, NP_001305313.1:p.Lys26Glu, XP_016874070.1:p.Lys26Glu, NP_001305316.1:p.Lys26Glu, XP_005253286.1:p.Lys26Glu, NP_001245250.1:p.Lys26Glu, NP_001305315.1:p.Lys26Glu, NP_001305314.1:p.Lys26Glu, NP_001245251.1:p.Lys26Glu, NP_001245253.1:p.Lys26Glu, XP_047283846.1:p.Lys26Glu, XP_047283849.1:p.Lys26Glu, XP_047283847.1:p.Lys26Glu, XP_047283848.1:p.Lys26Glu, XP_047283850.1:p.Lys26Glu

                            14.

                            rs1423206072 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:44938227 (GRCh38)
                              11:44959778 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:44938226:C:T
                              Gene:
                              TP53I11 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.0003/1 (KOREAN)
                              HGVS:
                              NC_000011.10:g.44938227C>T, NC_000011.9:g.44959778C>T, NM_006034.5:c.109G>A, NM_006034.4:c.109G>A, NM_006034.3:c.109G>A, XM_005253227.4:c.109G>A, XM_005253227.3:c.109G>A, XM_005253227.2:c.109G>A, XM_005253227.1:c.109G>A, XM_011520476.3:c.109G>A, XM_011520476.2:c.109G>A, XM_011520476.1:c.109G>A, NM_001258323.3:c.109G>A, NM_001258323.2:c.109G>A, NM_001258323.1:c.109G>A, XM_017018580.3:c.109G>A, XM_017018580.2:c.109G>A, XM_017018580.1:c.109G>A, NM_001258320.2:c.109G>A, NM_001258320.1:c.109G>A, NM_001318390.2:c.-321G>A, NM_001318390.1:c.-321G>A, XM_011520477.2:c.109G>A, XM_011520477.1:c.109G>A, NR_134612.2:n.347G>A, NR_134612.1:n.368G>A, XM_011520478.2:c.109G>A, XM_011520478.1:c.109G>A, NM_001318384.2:c.109G>A, NM_001318384.1:c.109G>A, XM_017018581.2:c.109G>A, XM_017018581.1:c.109G>A, NM_001318388.2:c.9G>A, NM_001318388.1:c.9G>A, NM_001318389.2:c.-40G>A, NM_001318389.1:c.-40G>A, NM_001318387.2:c.109G>A, NM_001318387.1:c.109G>A, XM_005253229.2:c.109G>A, XM_005253229.1:c.109G>A, NM_001258321.1:c.109G>A, NM_001318386.1:c.109G>A, NM_001076787.1:c.109G>A, NM_001318385.1:c.109G>A, NM_001258322.1:c.109G>A, NM_001258324.1:c.109G>A, XM_047427890.1:c.109G>A, XM_047427893.1:c.109G>A, XM_047427891.1:c.109G>A, XM_047427892.1:c.109G>A, XM_047427894.1:c.109G>A, NP_006025.2:p.Gly37Arg, XP_005253284.1:p.Gly37Arg, XP_011518778.1:p.Gly37Arg, NP_001245252.1:p.Gly37Arg, XP_016874069.1:p.Gly37Arg, NP_001245249.1:p.Gly37Arg, XP_011518779.1:p.Gly37Arg, XP_011518780.1:p.Gly37Arg, NP_001305313.1:p.Gly37Arg, XP_016874070.1:p.Gly37Arg, NP_001305316.1:p.Gly37Arg, XP_005253286.1:p.Gly37Arg, NP_001245250.1:p.Gly37Arg, NP_001305315.1:p.Gly37Arg, NP_001305314.1:p.Gly37Arg, NP_001245251.1:p.Gly37Arg, NP_001245253.1:p.Gly37Arg, XP_047283846.1:p.Gly37Arg, XP_047283849.1:p.Gly37Arg, XP_047283847.1:p.Gly37Arg, XP_047283848.1:p.Gly37Arg, XP_047283850.1:p.Gly37Arg

                              15.

                              rs1416192330 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:44935591 (GRCh38)
                                11:44957142 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:44935590:C:T
                                Gene:
                                TP53I11 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.44935591C>T, NC_000011.9:g.44957142C>T, NM_006034.5:c.406G>A, NM_006034.4:c.406G>A, NM_006034.3:c.406G>A, XM_005253227.4:c.406G>A, XM_005253227.3:c.406G>A, XM_005253227.2:c.406G>A, XM_005253227.1:c.406G>A, XM_011520476.3:c.406G>A, XM_011520476.2:c.406G>A, XM_011520476.1:c.406G>A, NM_001258323.3:c.406G>A, NM_001258323.2:c.406G>A, NM_001258323.1:c.406G>A, XM_017018580.3:c.406G>A, XM_017018580.2:c.406G>A, XM_017018580.1:c.406G>A, NM_001258320.2:c.406G>A, NM_001258320.1:c.406G>A, NM_001318390.2:c.172G>A, NM_001318390.1:c.172G>A, XM_011520477.2:c.406G>A, XM_011520477.1:c.406G>A, NR_134612.2:n.775G>A, NR_134612.1:n.796G>A, XM_011520478.2:c.406G>A, XM_011520478.1:c.406G>A, NM_001318384.2:c.406G>A, NM_001318384.1:c.406G>A, XM_017018581.2:c.406G>A, XM_017018581.1:c.406G>A, NM_001318388.2:c.247G>A, NM_001318388.1:c.247G>A, NM_001318389.2:c.181G>A, NM_001318389.1:c.181G>A, NM_001318387.2:c.250G>A, NM_001318387.1:c.250G>A, NM_001258321.1:c.406G>A, NM_001318386.1:c.406G>A, NM_001076787.1:c.406G>A, NM_001318385.1:c.406G>A, NM_001258322.1:c.406G>A, NM_001258324.1:c.406G>A, XM_047427890.1:c.406G>A, XM_047427893.1:c.406G>A, XM_047427891.1:c.406G>A, XM_047427892.1:c.406G>A, NP_006025.2:p.Glu136Lys, XP_005253284.1:p.Glu136Lys, XP_011518778.1:p.Glu136Lys, NP_001245252.1:p.Glu136Lys, XP_016874069.1:p.Glu136Lys, NP_001245249.1:p.Glu136Lys, NP_001305319.1:p.Glu58Lys, XP_011518779.1:p.Glu136Lys, XP_011518780.1:p.Glu136Lys, NP_001305313.1:p.Glu136Lys, XP_016874070.1:p.Glu136Lys, NP_001305317.1:p.Glu83Lys, NP_001305318.1:p.Glu61Lys, NP_001305316.1:p.Glu84Lys, NP_001245250.1:p.Glu136Lys, NP_001305315.1:p.Glu136Lys, NP_001305314.1:p.Glu136Lys, NP_001245251.1:p.Glu136Lys, NP_001245253.1:p.Glu136Lys, XP_047283846.1:p.Glu136Lys, XP_047283849.1:p.Glu136Lys, XP_047283847.1:p.Glu136Lys, XP_047283848.1:p.Glu136Lys

                                16.

                                rs1409410956 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  11:44938316 (GRCh38)
                                  11:44959867 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:44938315:G:A,NC_000011.10:44938315:G:T
                                  Gene:
                                  TP53I11 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.44938316G>A, NC_000011.10:g.44938316G>T, NC_000011.9:g.44959867G>A, NC_000011.9:g.44959867G>T, NM_006034.5:c.20C>T, NM_006034.5:c.20C>A, NM_006034.4:c.20C>T, NM_006034.4:c.20C>A, NM_006034.3:c.20C>T, NM_006034.3:c.20C>A, XM_005253227.4:c.20C>T, XM_005253227.4:c.20C>A, XM_005253227.3:c.20C>T, XM_005253227.3:c.20C>A, XM_005253227.2:c.20C>T, XM_005253227.2:c.20C>A, XM_005253227.1:c.20C>T, XM_005253227.1:c.20C>A, XM_011520476.3:c.20C>T, XM_011520476.3:c.20C>A, XM_011520476.2:c.20C>T, XM_011520476.2:c.20C>A, XM_011520476.1:c.20C>T, XM_011520476.1:c.20C>A, NM_001258323.3:c.20C>T, NM_001258323.3:c.20C>A, NM_001258323.2:c.20C>T, NM_001258323.2:c.20C>A, NM_001258323.1:c.20C>T, NM_001258323.1:c.20C>A, XM_017018580.3:c.20C>T, XM_017018580.3:c.20C>A, XM_017018580.2:c.20C>T, XM_017018580.2:c.20C>A, XM_017018580.1:c.20C>T, XM_017018580.1:c.20C>A, NM_001258320.2:c.20C>T, NM_001258320.2:c.20C>A, NM_001258320.1:c.20C>T, NM_001258320.1:c.20C>A, NM_001318390.2:c.-410C>T, NM_001318390.2:c.-410C>A, NM_001318390.1:c.-410C>T, NM_001318390.1:c.-410C>A, XM_011520477.2:c.20C>T, XM_011520477.2:c.20C>A, XM_011520477.1:c.20C>T, XM_011520477.1:c.20C>A, NR_134612.2:n.258C>T, NR_134612.2:n.258C>A, NR_134612.1:n.279C>T, NR_134612.1:n.279C>A, XM_011520478.2:c.20C>T, XM_011520478.2:c.20C>A, XM_011520478.1:c.20C>T, XM_011520478.1:c.20C>A, NM_001318384.2:c.20C>T, NM_001318384.2:c.20C>A, NM_001318384.1:c.20C>T, NM_001318384.1:c.20C>A, XM_017018581.2:c.20C>T, XM_017018581.2:c.20C>A, XM_017018581.1:c.20C>T, XM_017018581.1:c.20C>A, NM_001318388.2:c.-81C>T, NM_001318388.2:c.-81C>A, NM_001318388.1:c.-81C>T, NM_001318388.1:c.-81C>A, NM_001318389.2:c.-129C>T, NM_001318389.2:c.-129C>A, NM_001318389.1:c.-129C>T, NM_001318389.1:c.-129C>A, NM_001318387.2:c.20C>T, NM_001318387.2:c.20C>A, NM_001318387.1:c.20C>T, NM_001318387.1:c.20C>A, XM_005253229.2:c.20C>T, XM_005253229.2:c.20C>A, XM_005253229.1:c.20C>T, XM_005253229.1:c.20C>A, NM_001258321.1:c.20C>T, NM_001258321.1:c.20C>A, NM_001318386.1:c.20C>T, NM_001318386.1:c.20C>A, NM_001076787.1:c.20C>T, NM_001076787.1:c.20C>A, NM_001318385.1:c.20C>T, NM_001318385.1:c.20C>A, NM_001258322.1:c.20C>T, NM_001258322.1:c.20C>A, NM_001258324.1:c.20C>T, NM_001258324.1:c.20C>A, XM_047427890.1:c.20C>T, XM_047427890.1:c.20C>A, XM_047427893.1:c.20C>T, XM_047427893.1:c.20C>A, XM_047427891.1:c.20C>T, XM_047427891.1:c.20C>A, XM_047427892.1:c.20C>T, XM_047427892.1:c.20C>A, XM_047427894.1:c.20C>T, XM_047427894.1:c.20C>A, NP_006025.2:p.Pro7Leu, NP_006025.2:p.Pro7Gln, XP_005253284.1:p.Pro7Leu, XP_005253284.1:p.Pro7Gln, XP_011518778.1:p.Pro7Leu, XP_011518778.1:p.Pro7Gln, NP_001245252.1:p.Pro7Leu, NP_001245252.1:p.Pro7Gln, XP_016874069.1:p.Pro7Leu, XP_016874069.1:p.Pro7Gln, NP_001245249.1:p.Pro7Leu, NP_001245249.1:p.Pro7Gln, XP_011518779.1:p.Pro7Leu, XP_011518779.1:p.Pro7Gln, XP_011518780.1:p.Pro7Leu, XP_011518780.1:p.Pro7Gln, NP_001305313.1:p.Pro7Leu, NP_001305313.1:p.Pro7Gln, XP_016874070.1:p.Pro7Leu, XP_016874070.1:p.Pro7Gln, NP_001305316.1:p.Pro7Leu, NP_001305316.1:p.Pro7Gln, XP_005253286.1:p.Pro7Leu, XP_005253286.1:p.Pro7Gln, NP_001245250.1:p.Pro7Leu, NP_001245250.1:p.Pro7Gln, NP_001305315.1:p.Pro7Leu, NP_001305315.1:p.Pro7Gln, NP_001305314.1:p.Pro7Leu, NP_001305314.1:p.Pro7Gln, NP_001245251.1:p.Pro7Leu, NP_001245251.1:p.Pro7Gln, NP_001245253.1:p.Pro7Leu, NP_001245253.1:p.Pro7Gln, XP_047283846.1:p.Pro7Leu, XP_047283846.1:p.Pro7Gln, XP_047283849.1:p.Pro7Leu, XP_047283849.1:p.Pro7Gln, XP_047283847.1:p.Pro7Leu, XP_047283847.1:p.Pro7Gln, XP_047283848.1:p.Pro7Leu, XP_047283848.1:p.Pro7Gln, XP_047283850.1:p.Pro7Leu, XP_047283850.1:p.Pro7Gln

                                  17.

                                  rs1394828148 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:44938255 (GRCh38)
                                    11:44959806 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:44938254:G:A
                                    Gene:
                                    TP53I11 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.44938255G>A, NC_000011.9:g.44959806G>A, NM_006034.5:c.81C>T, NM_006034.4:c.81C>T, NM_006034.3:c.81C>T, XM_005253227.4:c.81C>T, XM_005253227.3:c.81C>T, XM_005253227.2:c.81C>T, XM_005253227.1:c.81C>T, XM_011520476.3:c.81C>T, XM_011520476.2:c.81C>T, XM_011520476.1:c.81C>T, NM_001258323.3:c.81C>T, NM_001258323.2:c.81C>T, NM_001258323.1:c.81C>T, XM_017018580.3:c.81C>T, XM_017018580.2:c.81C>T, XM_017018580.1:c.81C>T, NM_001258320.2:c.81C>T, NM_001258320.1:c.81C>T, NM_001318390.2:c.-349C>T, NM_001318390.1:c.-349C>T, XM_011520477.2:c.81C>T, XM_011520477.1:c.81C>T, NR_134612.2:n.319C>T, NR_134612.1:n.340C>T, XM_011520478.2:c.81C>T, XM_011520478.1:c.81C>T, NM_001318384.2:c.81C>T, NM_001318384.1:c.81C>T, XM_017018581.2:c.81C>T, XM_017018581.1:c.81C>T, NM_001318388.2:c.-20C>T, NM_001318388.1:c.-20C>T, NM_001318389.2:c.-68C>T, NM_001318389.1:c.-68C>T, NM_001318387.2:c.81C>T, NM_001318387.1:c.81C>T, XM_005253229.2:c.81C>T, XM_005253229.1:c.81C>T, NM_001258321.1:c.81C>T, NM_001318386.1:c.81C>T, NM_001076787.1:c.81C>T, NM_001318385.1:c.81C>T, NM_001258322.1:c.81C>T, NM_001258324.1:c.81C>T, XM_047427890.1:c.81C>T, XM_047427893.1:c.81C>T, XM_047427891.1:c.81C>T, XM_047427892.1:c.81C>T, XM_047427894.1:c.81C>T

                                    18.

                                    rs1392612262 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      C>- [Show Flanks]
                                      Chromosome:
                                      11:44938219 (GRCh38)
                                      11:44959770 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:44938218:C:
                                      Gene:
                                      TP53I11 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000011.10:g.44938219del, NC_000011.9:g.44959770del, NM_006034.5:c.117del, NM_006034.4:c.117del, NM_006034.3:c.117del, XM_005253227.4:c.117del, XM_005253227.3:c.117del, XM_005253227.2:c.117del, XM_005253227.1:c.117del, XM_011520476.3:c.117del, XM_011520476.2:c.117del, XM_011520476.1:c.117del, NM_001258323.3:c.117del, NM_001258323.2:c.117del, NM_001258323.1:c.117del, XM_017018580.3:c.117del, XM_017018580.2:c.117del, XM_017018580.1:c.117del, NM_001258320.2:c.117del, NM_001258320.1:c.117del, NM_001318390.2:c.-313del, NM_001318390.1:c.-313del, XM_011520477.2:c.117del, XM_011520477.1:c.117del, NR_134612.2:n.355del, NR_134612.1:n.376del, XM_011520478.2:c.117del, XM_011520478.1:c.117del, NM_001318384.2:c.117del, NM_001318384.1:c.117del, XM_017018581.2:c.117del, XM_017018581.1:c.117del, NM_001318388.2:c.17del, NM_001318388.1:c.17del, NM_001318389.2:c.-32del, NM_001318389.1:c.-32del, NM_001318387.2:c.117del, NM_001318387.1:c.117del, XM_005253229.2:c.117del, XM_005253229.1:c.117del, NM_001258321.1:c.117del, NM_001318386.1:c.117del, NM_001076787.1:c.117del, NM_001318385.1:c.117del, NM_001258322.1:c.117del, NM_001258324.1:c.117del, XM_047427890.1:c.117del, XM_047427893.1:c.117del, XM_047427891.1:c.117del, XM_047427892.1:c.117del, XM_047427894.1:c.117del, NP_006025.2:p.His40fs, XP_005253284.1:p.His40fs, XP_011518778.1:p.His40fs, NP_001245252.1:p.His40fs, XP_016874069.1:p.His40fs, NP_001245249.1:p.His40fs, XP_011518779.1:p.His40fs, XP_011518780.1:p.His40fs, NP_001305313.1:p.His40fs, XP_016874070.1:p.His40fs, NP_001305317.1:p.Cys6fs, NP_001305316.1:p.His40fs, XP_005253286.1:p.His40fs, NP_001245250.1:p.His40fs, NP_001305315.1:p.His40fs, NP_001305314.1:p.His40fs, NP_001245251.1:p.His40fs, NP_001245253.1:p.His40fs, XP_047283846.1:p.His40fs, XP_047283849.1:p.His40fs, XP_047283847.1:p.His40fs, XP_047283848.1:p.His40fs, XP_047283850.1:p.His40fs

                                      19.

                                      rs1384535639 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:44935629 (GRCh38)
                                        11:44957180 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:44935628:G:A
                                        Gene:
                                        TP53I11 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000071/1 (ALFA)
                                        A=0.000008/2 (GnomAD_exomes)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000011.10:g.44935629G>A, NC_000011.9:g.44957180G>A, NM_006034.5:c.368C>T, NM_006034.4:c.368C>T, NM_006034.3:c.368C>T, XM_005253227.4:c.368C>T, XM_005253227.3:c.368C>T, XM_005253227.2:c.368C>T, XM_005253227.1:c.368C>T, XM_011520476.3:c.368C>T, XM_011520476.2:c.368C>T, XM_011520476.1:c.368C>T, NM_001258323.3:c.368C>T, NM_001258323.2:c.368C>T, NM_001258323.1:c.368C>T, XM_017018580.3:c.368C>T, XM_017018580.2:c.368C>T, XM_017018580.1:c.368C>T, NM_001258320.2:c.368C>T, NM_001258320.1:c.368C>T, NM_001318390.2:c.134C>T, NM_001318390.1:c.134C>T, XM_011520477.2:c.368C>T, XM_011520477.1:c.368C>T, NR_134612.2:n.737C>T, NR_134612.1:n.758C>T, XM_011520478.2:c.368C>T, XM_011520478.1:c.368C>T, NM_001318384.2:c.368C>T, NM_001318384.1:c.368C>T, XM_017018581.2:c.368C>T, XM_017018581.1:c.368C>T, NM_001318388.2:c.209C>T, NM_001318388.1:c.209C>T, NM_001318389.2:c.143C>T, NM_001318389.1:c.143C>T, NM_001318387.2:c.212C>T, NM_001318387.1:c.212C>T, NM_001258321.1:c.368C>T, NM_001318386.1:c.368C>T, NM_001076787.1:c.368C>T, NM_001318385.1:c.368C>T, NM_001258322.1:c.368C>T, NM_001258324.1:c.368C>T, XM_047427890.1:c.368C>T, XM_047427893.1:c.368C>T, XM_047427891.1:c.368C>T, XM_047427892.1:c.368C>T, NP_006025.2:p.Thr123Met, XP_005253284.1:p.Thr123Met, XP_011518778.1:p.Thr123Met, NP_001245252.1:p.Thr123Met, XP_016874069.1:p.Thr123Met, NP_001245249.1:p.Thr123Met, NP_001305319.1:p.Thr45Met, XP_011518779.1:p.Thr123Met, XP_011518780.1:p.Thr123Met, NP_001305313.1:p.Thr123Met, XP_016874070.1:p.Thr123Met, NP_001305317.1:p.Thr70Met, NP_001305318.1:p.Thr48Met, NP_001305316.1:p.Thr71Met, NP_001245250.1:p.Thr123Met, NP_001305315.1:p.Thr123Met, NP_001305314.1:p.Thr123Met, NP_001245251.1:p.Thr123Met, NP_001245253.1:p.Thr123Met, XP_047283846.1:p.Thr123Met, XP_047283849.1:p.Thr123Met, XP_047283847.1:p.Thr123Met, XP_047283848.1:p.Thr123Met

                                        20.

                                        rs1374174517 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:44934950 (GRCh38)
                                          11:44956501 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:44934949:G:A
                                          Gene:
                                          TP53I11 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.44934950G>A, NC_000011.9:g.44956501G>A, NM_006034.5:c.504C>T, NM_006034.4:c.504C>T, NM_006034.3:c.504C>T, XM_005253227.4:c.504C>T, XM_005253227.3:c.504C>T, XM_005253227.2:c.504C>T, XM_005253227.1:c.504C>T, XM_011520476.3:c.504C>T, XM_011520476.2:c.504C>T, XM_011520476.1:c.504C>T, NM_001258323.3:c.504C>T, NM_001258323.2:c.504C>T, NM_001258323.1:c.504C>T, XM_017018580.3:c.504C>T, XM_017018580.2:c.504C>T, XM_017018580.1:c.504C>T, NM_001258320.2:c.504C>T, NM_001258320.1:c.504C>T, NM_001318390.2:c.270C>T, NM_001318390.1:c.270C>T, XM_011520477.2:c.504C>T, XM_011520477.1:c.504C>T, NR_134612.2:n.873C>T, NR_134612.1:n.894C>T, XM_011520478.2:c.504C>T, XM_011520478.1:c.504C>T, NM_001318384.2:c.504C>T, NM_001318384.1:c.504C>T, XM_017018581.2:c.504C>T, XM_017018581.1:c.504C>T, NM_001318388.2:c.345C>T, NM_001318388.1:c.345C>T, NM_001318389.2:c.279C>T, NM_001318389.1:c.279C>T, NM_001318387.2:c.348C>T, NM_001318387.1:c.348C>T, NM_001258321.1:c.504C>T, NM_001318386.1:c.504C>T, NM_001076787.1:c.504C>T, NM_001318385.1:c.504C>T, NM_001258322.1:c.504C>T, NM_001258324.1:c.504C>T, XM_047427890.1:c.504C>T, XM_047427893.1:c.504C>T, XM_047427891.1:c.504C>T, XM_047427892.1:c.504C>T

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