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Items: 1 to 20 of 646

2.

rs1487868349 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    17:7673765 (GRCh38)
    17:7577083 (GRCh37)
    Canonical SPDI:
    NC_000017.11:7673764:C:G,NC_000017.11:7673764:C:T
    Gene:
    TP53 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,missense_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000066/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    T=0.000223/1 (Estonian)
    HGVS:
    NC_000017.11:g.7673765C>G, NC_000017.11:g.7673765C>T, NC_000017.10:g.7577083C>G, NC_000017.10:g.7577083C>T, NG_017013.2:g.18786G>C, NG_017013.2:g.18786G>A, NM_000546.6:c.855G>C, NM_000546.6:c.855G>A, NM_000546.5:c.855G>C, NM_000546.5:c.855G>A, NM_001276696.3:c.738G>C, NM_001276696.3:c.738G>A, NM_001276696.2:c.738G>C, NM_001276696.2:c.738G>A, NM_001276696.1:c.738G>C, NM_001276696.1:c.738G>A, NM_001126114.3:c.855G>C, NM_001126114.3:c.855G>A, NM_001126114.2:c.855G>C, NM_001126114.2:c.855G>A, NM_001276695.3:c.738G>C, NM_001276695.3:c.738G>A, NM_001276695.2:c.738G>C, NM_001276695.2:c.738G>A, NM_001276695.1:c.738G>C, NM_001276695.1:c.738G>A, NM_001126113.3:c.855G>C, NM_001126113.3:c.855G>A, NM_001126113.2:c.855G>C, NM_001126113.2:c.855G>A, NM_001276760.3:c.738G>C, NM_001276760.3:c.738G>A, NM_001276760.2:c.738G>C, NM_001276760.2:c.738G>A, NM_001276760.1:c.738G>C, NM_001276760.1:c.738G>A, NM_001276761.3:c.738G>C, NM_001276761.3:c.738G>A, NM_001276761.2:c.738G>C, NM_001276761.2:c.738G>A, NM_001276761.1:c.738G>C, NM_001276761.1:c.738G>A, NM_001126112.3:c.855G>C, NM_001126112.3:c.855G>A, NM_001126112.2:c.855G>C, NM_001126112.2:c.855G>A, NM_001276698.3:c.378G>C, NM_001276698.3:c.378G>A, NM_001276698.2:c.378G>C, NM_001276698.2:c.378G>A, NM_001276698.1:c.378G>C, NM_001276698.1:c.378G>A, NM_001276699.3:c.378G>C, NM_001276699.3:c.378G>A, NM_001276699.2:c.378G>C, NM_001276699.2:c.378G>A, NM_001276699.1:c.378G>C, NM_001276699.1:c.378G>A, NM_001276697.3:c.378G>C, NM_001276697.3:c.378G>A, NM_001276697.2:c.378G>C, NM_001276697.2:c.378G>A, NM_001276697.1:c.378G>C, NM_001276697.1:c.378G>A, NM_001126118.2:c.738G>C, NM_001126118.2:c.738G>A, NM_001126118.1:c.738G>C, NM_001126118.1:c.738G>A, NM_001126116.2:c.459G>C, NM_001126116.2:c.459G>A, NM_001126116.1:c.459G>C, NM_001126116.1:c.459G>A, NM_001126117.2:c.459G>C, NM_001126117.2:c.459G>A, NM_001126117.1:c.459G>C, NM_001126117.1:c.459G>A, NM_001126115.2:c.459G>C, NM_001126115.2:c.459G>A, NM_001126115.1:c.459G>C, NM_001126115.1:c.459G>A, NM_001407271.1:c.738G>C, NM_001407271.1:c.738G>A, NM_001407270.1:c.855G>C, NM_001407270.1:c.855G>A, NM_001407269.1:c.738G>C, NM_001407269.1:c.738G>A, NM_001407268.1:c.855G>C, NM_001407268.1:c.855G>A, NM_001407263.1:c.738G>C, NM_001407263.1:c.738G>A, NM_001407262.1:c.855G>C, NM_001407262.1:c.855G>A, NM_001407267.1:c.738G>C, NM_001407267.1:c.738G>A, NM_001407266.1:c.855G>C, NM_001407266.1:c.855G>A, NM_001407265.1:c.738G>C, NM_001407265.1:c.738G>A, NM_001407264.1:c.855G>C, NM_001407264.1:c.855G>A, NR_176326.1:n.884G>C, NR_176326.1:n.884G>A, NP_000537.3:p.Glu285Asp, NP_001263625.1:p.Glu246Asp, NP_001119586.1:p.Glu285Asp, NP_001263624.1:p.Glu246Asp, NP_001119585.1:p.Glu285Asp, NP_001263689.1:p.Glu246Asp, NP_001263690.1:p.Glu246Asp, NP_001119584.1:p.Glu285Asp, NP_001263627.1:p.Glu126Asp, NP_001263628.1:p.Glu126Asp, NP_001263626.1:p.Glu126Asp, NP_001119590.1:p.Glu246Asp, NP_001119588.1:p.Glu153Asp, NP_001119589.1:p.Glu153Asp, NP_001119587.1:p.Glu153Asp
    3.

    rs1482894608 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGCAGGTCTTGG>- [Show Flanks]
      Chromosome:
      17:7675188 (GRCh38)
      17:7578506 (GRCh37)
      Canonical SPDI:
      NC_000017.11:7675186:GGGCAGGTCTTGG:G
      Gene:
      TP53 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,inframe_deletion,coding_sequence_variant
      HGVS:
      NC_000017.11:g.7675188_7675199del, NC_000017.10:g.7578506_7578517del, NG_017013.2:g.17353_17364del, NM_000546.6:c.414_425del, NM_000546.5:c.414_425del, NM_001276696.3:c.297_308del, NM_001276696.2:c.297_308del, NM_001276696.1:c.297_308del, NM_001126114.3:c.414_425del, NM_001126114.2:c.414_425del, NM_001276695.3:c.297_308del, NM_001276695.2:c.297_308del, NM_001276695.1:c.297_308del, NM_001126113.3:c.414_425del, NM_001126113.2:c.414_425del, NM_001276760.3:c.297_308del, NM_001276760.2:c.297_308del, NM_001276760.1:c.297_308del, NM_001276761.3:c.297_308del, NM_001276761.2:c.297_308del, NM_001276761.1:c.297_308del, NM_001126112.3:c.414_425del, NM_001126112.2:c.414_425del, NM_001276698.3:c.-64_-53del, NM_001276698.2:c.-64_-53del, NM_001276698.1:c.-64_-53del, NM_001276699.3:c.-64_-53del, NM_001276699.2:c.-64_-53del, NM_001276699.1:c.-64_-53del, NM_001276697.3:c.-64_-53del, NM_001276697.2:c.-64_-53del, NM_001276697.1:c.-64_-53del, NM_001126118.2:c.297_308del, NM_001126118.1:c.297_308del, NM_001126116.2:c.18_29del, NM_001126116.1:c.18_29del, NM_001126117.2:c.18_29del, NM_001126117.1:c.18_29del, NM_001126115.2:c.18_29del, NM_001126115.1:c.18_29del, NM_001407271.1:c.297_308del, NM_001407270.1:c.414_425del, NM_001407269.1:c.297_308del, NM_001407268.1:c.414_425del, NM_001407263.1:c.297_308del, NM_001407262.1:c.414_425del, NM_001407267.1:c.297_308del, NM_001407266.1:c.414_425del, NM_001407265.1:c.297_308del, NM_001407264.1:c.414_425del, NR_176326.1:n.556_567del, NP_000537.3:p.Lys139_Pro142del, NP_001263625.1:p.Lys100_Pro103del, NP_001119586.1:p.Lys139_Pro142del, NP_001263624.1:p.Lys100_Pro103del, NP_001119585.1:p.Lys139_Pro142del, NP_001263689.1:p.Lys100_Pro103del, NP_001263690.1:p.Lys100_Pro103del, NP_001119584.1:p.Lys139_Pro142del, NP_001119590.1:p.Lys100_Pro103del, NP_001119588.1:p.Lys7_Pro10del, NP_001119589.1:p.Lys7_Pro10del, NP_001119587.1:p.Lys7_Pro10del
      4.

      rs1482497533 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C,T [Show Flanks]
        Chromosome:
        17:7676560 (GRCh38)
        17:7579878 (GRCh37)
        Canonical SPDI:
        NC_000017.11:7676559:G:A,NC_000017.11:7676559:G:C,NC_000017.11:7676559:G:T
        Gene:
        TP53 (Varview)
        Functional Consequence:
        coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.7676560G>A, NC_000017.11:g.7676560G>C, NC_000017.11:g.7676560G>T, NC_000017.10:g.7579878G>A, NC_000017.10:g.7579878G>C, NC_000017.10:g.7579878G>T, NG_017013.2:g.15991C>T, NG_017013.2:g.15991C>G, NG_017013.2:g.15991C>A, NM_000546.6:c.35C>T, NM_000546.6:c.35C>G, NM_000546.6:c.35C>A, NM_000546.5:c.35C>T, NM_000546.5:c.35C>G, NM_000546.5:c.35C>A, NM_001276696.3:c.-83C>T, NM_001276696.3:c.-83C>G, NM_001276696.3:c.-83C>A, NM_001276696.2:c.-83C>T, NM_001276696.2:c.-83C>G, NM_001276696.2:c.-83C>A, NM_001276696.1:c.-83C>T, NM_001276696.1:c.-83C>G, NM_001276696.1:c.-83C>A, NM_001126114.3:c.35C>T, NM_001126114.3:c.35C>G, NM_001126114.3:c.35C>A, NM_001126114.2:c.35C>T, NM_001126114.2:c.35C>G, NM_001126114.2:c.35C>A, NM_001276695.3:c.-83C>T, NM_001276695.3:c.-83C>G, NM_001276695.3:c.-83C>A, NM_001276695.2:c.-83C>T, NM_001276695.2:c.-83C>G, NM_001276695.2:c.-83C>A, NM_001276695.1:c.-83C>T, NM_001276695.1:c.-83C>G, NM_001276695.1:c.-83C>A, NM_001126113.3:c.35C>T, NM_001126113.3:c.35C>G, NM_001126113.3:c.35C>A, NM_001126113.2:c.35C>T, NM_001126113.2:c.35C>G, NM_001126113.2:c.35C>A, NM_001276760.3:c.-83C>T, NM_001276760.3:c.-83C>G, NM_001276760.3:c.-83C>A, NM_001276760.2:c.-83C>T, NM_001276760.2:c.-83C>G, NM_001276760.2:c.-83C>A, NM_001276760.1:c.-83C>T, NM_001276760.1:c.-83C>G, NM_001276760.1:c.-83C>A, NM_001276761.3:c.-83C>T, NM_001276761.3:c.-83C>G, NM_001276761.3:c.-83C>A, NM_001276761.2:c.-83C>T, NM_001276761.2:c.-83C>G, NM_001276761.2:c.-83C>A, NM_001276761.1:c.-83C>T, NM_001276761.1:c.-83C>G, NM_001276761.1:c.-83C>A, NM_001126112.3:c.35C>T, NM_001126112.3:c.35C>G, NM_001126112.3:c.35C>A, NM_001126112.2:c.35C>T, NM_001126112.2:c.35C>G, NM_001126112.2:c.35C>A, NM_001126118.2:c.-200C>T, NM_001126118.2:c.-200C>G, NM_001126118.2:c.-200C>A, NM_001126118.1:c.-200C>T, NM_001126118.1:c.-200C>G, NM_001126118.1:c.-200C>A, NM_001407271.1:c.-83C>T, NM_001407271.1:c.-83C>G, NM_001407271.1:c.-83C>A, NM_001407270.1:c.35C>T, NM_001407270.1:c.35C>G, NM_001407270.1:c.35C>A, NM_001407269.1:c.-83C>T, NM_001407269.1:c.-83C>G, NM_001407269.1:c.-83C>A, NM_001407268.1:c.35C>T, NM_001407268.1:c.35C>G, NM_001407268.1:c.35C>A, NM_001407263.1:c.-83C>T, NM_001407263.1:c.-83C>G, NM_001407263.1:c.-83C>A, NM_001407262.1:c.35C>T, NM_001407262.1:c.35C>G, NM_001407262.1:c.35C>A, NM_001407267.1:c.-83C>T, NM_001407267.1:c.-83C>G, NM_001407267.1:c.-83C>A, NM_001407266.1:c.35C>T, NM_001407266.1:c.35C>G, NM_001407266.1:c.35C>A, NM_001407265.1:c.-83C>T, NM_001407265.1:c.-83C>G, NM_001407265.1:c.-83C>A, NM_001407264.1:c.35C>T, NM_001407264.1:c.35C>G, NM_001407264.1:c.35C>A, NR_176326.1:n.177C>T, NR_176326.1:n.177C>G, NR_176326.1:n.177C>A, NP_000537.3:p.Pro12Leu, NP_000537.3:p.Pro12Arg, NP_000537.3:p.Pro12His, NP_001119586.1:p.Pro12Leu, NP_001119586.1:p.Pro12Arg, NP_001119586.1:p.Pro12His, NP_001119585.1:p.Pro12Leu, NP_001119585.1:p.Pro12Arg, NP_001119585.1:p.Pro12His, NP_001119584.1:p.Pro12Leu, NP_001119584.1:p.Pro12Arg, NP_001119584.1:p.Pro12His
        5.

        rs1481427511 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->CA [Show Flanks]
          Chromosome:
          17:7674184 (GRCh38)
          17:7577503 (GRCh37)
          Canonical SPDI:
          NC_000017.11:7674184::CA
          Gene:
          TP53 (Varview)
          Functional Consequence:
          frameshift_variant,coding_sequence_variant
          HGVS:
          NC_000017.11:g.7674184_7674185insCA, NC_000017.10:g.7577502_7577503insCA, NG_017013.2:g.18366_18367insTG, NM_000546.6:c.778_779insTG, NM_000546.5:c.778_779insTG, NM_001276696.3:c.661_662insTG, NM_001276696.2:c.661_662insTG, NM_001276696.1:c.661_662insTG, NM_001126114.3:c.778_779insTG, NM_001126114.2:c.778_779insTG, NM_001276695.3:c.661_662insTG, NM_001276695.2:c.661_662insTG, NM_001276695.1:c.661_662insTG, NM_001126113.3:c.778_779insTG, NM_001126113.2:c.778_779insTG, NM_001276760.3:c.661_662insTG, NM_001276760.2:c.661_662insTG, NM_001276760.1:c.661_662insTG, NM_001276761.3:c.661_662insTG, NM_001276761.2:c.661_662insTG, NM_001276761.1:c.661_662insTG, NM_001126112.3:c.778_779insTG, NM_001126112.2:c.778_779insTG, NM_001276698.3:c.301_302insTG, NM_001276698.2:c.301_302insTG, NM_001276698.1:c.301_302insTG, NM_001276699.3:c.301_302insTG, NM_001276699.2:c.301_302insTG, NM_001276699.1:c.301_302insTG, NM_001276697.3:c.301_302insTG, NM_001276697.2:c.301_302insTG, NM_001276697.1:c.301_302insTG, NM_001126118.2:c.661_662insTG, NM_001126118.1:c.661_662insTG, NM_001126116.2:c.382_383insTG, NM_001126116.1:c.382_383insTG, NM_001126117.2:c.382_383insTG, NM_001126117.1:c.382_383insTG, NM_001126115.2:c.382_383insTG, NM_001126115.1:c.382_383insTG, NM_001407271.1:c.661_662insTG, NM_001407270.1:c.778_779insTG, NM_001407269.1:c.661_662insTG, NM_001407268.1:c.778_779insTG, NM_001407263.1:c.661_662insTG, NM_001407262.1:c.778_779insTG, NM_001407267.1:c.661_662insTG, NM_001407266.1:c.778_779insTG, NM_001407265.1:c.661_662insTG, NM_001407264.1:c.778_779insTG, NR_176326.1:n.807_808insTG, NP_000537.3:p.Ser260fs, NP_001263625.1:p.Ser221fs, NP_001119586.1:p.Ser260fs, NP_001263624.1:p.Ser221fs, NP_001119585.1:p.Ser260fs, NP_001263689.1:p.Ser221fs, NP_001263690.1:p.Ser221fs, NP_001119584.1:p.Ser260fs, NP_001263627.1:p.Ser101fs, NP_001263628.1:p.Ser101fs, NP_001263626.1:p.Ser101fs, NP_001119590.1:p.Ser221fs, NP_001119588.1:p.Ser128fs, NP_001119589.1:p.Ser128fs, NP_001119587.1:p.Ser128fs
          6.

          rs1474317878 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GG>A [Show Flanks]
            Chromosome:
            17:7673787 (GRCh38)
            17:7577105 (GRCh37)
            Canonical SPDI:
            NC_000017.11:7673786:GG:A
            Gene:
            TP53 (Varview)
            Functional Consequence:
            frameshift_variant,coding_sequence_variant
            HGVS:
            NC_000017.11:g.7673787_7673788delinsA, NC_000017.10:g.7577105_7577106delinsA, NG_017013.2:g.18763_18764delinsT, NM_000546.6:c.832_833delinsT, NM_000546.5:c.832_833delinsT, NM_001276696.3:c.715_716delinsT, NM_001276696.2:c.715_716delinsT, NM_001276696.1:c.715_716delinsT, NM_001126114.3:c.832_833delinsT, NM_001126114.2:c.832_833delinsT, NM_001276695.3:c.715_716delinsT, NM_001276695.2:c.715_716delinsT, NM_001276695.1:c.715_716delinsT, NM_001126113.3:c.832_833delinsT, NM_001126113.2:c.832_833delinsT, NM_001276760.3:c.715_716delinsT, NM_001276760.2:c.715_716delinsT, NM_001276760.1:c.715_716delinsT, NM_001276761.3:c.715_716delinsT, NM_001276761.2:c.715_716delinsT, NM_001276761.1:c.715_716delinsT, NM_001126112.3:c.832_833delinsT, NM_001126112.2:c.832_833delinsT, NM_001276698.3:c.355_356delinsT, NM_001276698.2:c.355_356delinsT, NM_001276698.1:c.355_356delinsT, NM_001276699.3:c.355_356delinsT, NM_001276699.2:c.355_356delinsT, NM_001276699.1:c.355_356delinsT, NM_001276697.3:c.355_356delinsT, NM_001276697.2:c.355_356delinsT, NM_001276697.1:c.355_356delinsT, NM_001126118.2:c.715_716delinsT, NM_001126118.1:c.715_716delinsT, NM_001126116.2:c.436_437delinsT, NM_001126116.1:c.436_437delinsT, NM_001126117.2:c.436_437delinsT, NM_001126117.1:c.436_437delinsT, NM_001126115.2:c.436_437delinsT, NM_001126115.1:c.436_437delinsT, NM_001407271.1:c.715_716delinsT, NM_001407270.1:c.832_833delinsT, NM_001407269.1:c.715_716delinsT, NM_001407268.1:c.832_833delinsT, NM_001407263.1:c.715_716delinsT, NM_001407262.1:c.832_833delinsT, NM_001407267.1:c.715_716delinsT, NM_001407266.1:c.832_833delinsT, NM_001407265.1:c.715_716delinsT, NM_001407264.1:c.832_833delinsT, NR_176326.1:n.861_862delinsT, NP_000537.3:p.Pro278fs, NP_001263625.1:p.Pro239fs, NP_001119586.1:p.Pro278fs, NP_001263624.1:p.Pro239fs, NP_001119585.1:p.Pro278fs, NP_001263689.1:p.Pro239fs, NP_001263690.1:p.Pro239fs, NP_001119584.1:p.Pro278fs, NP_001263627.1:p.Pro119fs, NP_001263628.1:p.Pro119fs, NP_001263626.1:p.Pro119fs, NP_001119590.1:p.Pro239fs, NP_001119588.1:p.Pro146fs, NP_001119589.1:p.Pro146fs, NP_001119587.1:p.Pro146fs
            8.

            rs1464727668 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C,G [Show Flanks]
              Chromosome:
              17:7674908 (GRCh38)
              17:7578226 (GRCh37)
              Canonical SPDI:
              NC_000017.11:7674907:T:A,NC_000017.11:7674907:T:C,NC_000017.11:7674907:T:G
              Gene:
              TP53 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by cluster
              HGVS:
              NC_000017.11:g.7674908T>A, NC_000017.11:g.7674908T>C, NC_000017.11:g.7674908T>G, NC_000017.10:g.7578226T>A, NC_000017.10:g.7578226T>C, NC_000017.10:g.7578226T>G, NG_017013.2:g.17643A>T, NG_017013.2:g.17643A>G, NG_017013.2:g.17643A>C, NM_000546.6:c.623A>T, NM_000546.6:c.623A>G, NM_000546.6:c.623A>C, NM_000546.5:c.623A>T, NM_000546.5:c.623A>G, NM_000546.5:c.623A>C, NM_001276696.3:c.506A>T, NM_001276696.3:c.506A>G, NM_001276696.3:c.506A>C, NM_001276696.2:c.506A>T, NM_001276696.2:c.506A>G, NM_001276696.2:c.506A>C, NM_001276696.1:c.506A>T, NM_001276696.1:c.506A>G, NM_001276696.1:c.506A>C, NM_001126114.3:c.623A>T, NM_001126114.3:c.623A>G, NM_001126114.3:c.623A>C, NM_001126114.2:c.623A>T, NM_001126114.2:c.623A>G, NM_001126114.2:c.623A>C, NM_001276695.3:c.506A>T, NM_001276695.3:c.506A>G, NM_001276695.3:c.506A>C, NM_001276695.2:c.506A>T, NM_001276695.2:c.506A>G, NM_001276695.2:c.506A>C, NM_001276695.1:c.506A>T, NM_001276695.1:c.506A>G, NM_001276695.1:c.506A>C, NM_001126113.3:c.623A>T, NM_001126113.3:c.623A>G, NM_001126113.3:c.623A>C, NM_001126113.2:c.623A>T, NM_001126113.2:c.623A>G, NM_001126113.2:c.623A>C, NM_001276760.3:c.506A>T, NM_001276760.3:c.506A>G, NM_001276760.3:c.506A>C, NM_001276760.2:c.506A>T, NM_001276760.2:c.506A>G, NM_001276760.2:c.506A>C, NM_001276760.1:c.506A>T, NM_001276760.1:c.506A>G, NM_001276760.1:c.506A>C, NM_001276761.3:c.506A>T, NM_001276761.3:c.506A>G, NM_001276761.3:c.506A>C, NM_001276761.2:c.506A>T, NM_001276761.2:c.506A>G, NM_001276761.2:c.506A>C, NM_001276761.1:c.506A>T, NM_001276761.1:c.506A>G, NM_001276761.1:c.506A>C, NM_001126112.3:c.623A>T, NM_001126112.3:c.623A>G, NM_001126112.3:c.623A>C, NM_001126112.2:c.623A>T, NM_001126112.2:c.623A>G, NM_001126112.2:c.623A>C, NM_001276698.3:c.146A>T, NM_001276698.3:c.146A>G, NM_001276698.3:c.146A>C, NM_001276698.2:c.146A>T, NM_001276698.2:c.146A>G, NM_001276698.2:c.146A>C, NM_001276698.1:c.146A>T, NM_001276698.1:c.146A>G, NM_001276698.1:c.146A>C, NM_001276699.3:c.146A>T, NM_001276699.3:c.146A>G, NM_001276699.3:c.146A>C, NM_001276699.2:c.146A>T, NM_001276699.2:c.146A>G, NM_001276699.2:c.146A>C, NM_001276699.1:c.146A>T, NM_001276699.1:c.146A>G, NM_001276699.1:c.146A>C, NM_001276697.3:c.146A>T, NM_001276697.3:c.146A>G, NM_001276697.3:c.146A>C, NM_001276697.2:c.146A>T, NM_001276697.2:c.146A>G, NM_001276697.2:c.146A>C, NM_001276697.1:c.146A>T, NM_001276697.1:c.146A>G, NM_001276697.1:c.146A>C, NM_001126118.2:c.506A>T, NM_001126118.2:c.506A>G, NM_001126118.2:c.506A>C, NM_001126118.1:c.506A>T, NM_001126118.1:c.506A>G, NM_001126118.1:c.506A>C, NM_001126116.2:c.227A>T, NM_001126116.2:c.227A>G, NM_001126116.2:c.227A>C, NM_001126116.1:c.227A>T, NM_001126116.1:c.227A>G, NM_001126116.1:c.227A>C, NM_001126117.2:c.227A>T, NM_001126117.2:c.227A>G, NM_001126117.2:c.227A>C, NM_001126117.1:c.227A>T, NM_001126117.1:c.227A>G, NM_001126117.1:c.227A>C, NM_001126115.2:c.227A>T, NM_001126115.2:c.227A>G, NM_001126115.2:c.227A>C, NM_001126115.1:c.227A>T, NM_001126115.1:c.227A>G, NM_001126115.1:c.227A>C, NM_001407271.1:c.506A>T, NM_001407271.1:c.506A>G, NM_001407271.1:c.506A>C, NM_001407270.1:c.623A>T, NM_001407270.1:c.623A>G, NM_001407270.1:c.623A>C, NM_001407269.1:c.506A>T, NM_001407269.1:c.506A>G, NM_001407269.1:c.506A>C, NM_001407268.1:c.623A>T, NM_001407268.1:c.623A>G, NM_001407268.1:c.623A>C, NM_001407263.1:c.506A>T, NM_001407263.1:c.506A>G, NM_001407263.1:c.506A>C, NM_001407262.1:c.623A>T, NM_001407262.1:c.623A>G, NM_001407262.1:c.623A>C, NM_001407267.1:c.506A>T, NM_001407267.1:c.506A>G, NM_001407267.1:c.506A>C, NM_001407266.1:c.623A>T, NM_001407266.1:c.623A>G, NM_001407266.1:c.623A>C, NM_001407265.1:c.506A>T, NM_001407265.1:c.506A>G, NM_001407265.1:c.506A>C, NM_001407264.1:c.623A>T, NM_001407264.1:c.623A>G, NM_001407264.1:c.623A>C, NP_000537.3:p.Asp208Val, NP_000537.3:p.Asp208Gly, NP_000537.3:p.Asp208Ala, NP_001263625.1:p.Asp169Val, NP_001263625.1:p.Asp169Gly, NP_001263625.1:p.Asp169Ala, NP_001119586.1:p.Asp208Val, NP_001119586.1:p.Asp208Gly, NP_001119586.1:p.Asp208Ala, NP_001263624.1:p.Asp169Val, NP_001263624.1:p.Asp169Gly, NP_001263624.1:p.Asp169Ala, NP_001119585.1:p.Asp208Val, NP_001119585.1:p.Asp208Gly, NP_001119585.1:p.Asp208Ala, NP_001263689.1:p.Asp169Val, NP_001263689.1:p.Asp169Gly, NP_001263689.1:p.Asp169Ala, NP_001263690.1:p.Asp169Val, NP_001263690.1:p.Asp169Gly, NP_001263690.1:p.Asp169Ala, NP_001119584.1:p.Asp208Val, NP_001119584.1:p.Asp208Gly, NP_001119584.1:p.Asp208Ala, NP_001263627.1:p.Asp49Val, NP_001263627.1:p.Asp49Gly, NP_001263627.1:p.Asp49Ala, NP_001263628.1:p.Asp49Val, NP_001263628.1:p.Asp49Gly, NP_001263628.1:p.Asp49Ala, NP_001263626.1:p.Asp49Val, NP_001263626.1:p.Asp49Gly, NP_001263626.1:p.Asp49Ala, NP_001119590.1:p.Asp169Val, NP_001119590.1:p.Asp169Gly, NP_001119590.1:p.Asp169Ala, NP_001119588.1:p.Asp76Val, NP_001119588.1:p.Asp76Gly, NP_001119588.1:p.Asp76Ala, NP_001119589.1:p.Asp76Val, NP_001119589.1:p.Asp76Gly, NP_001119589.1:p.Asp76Ala, NP_001119587.1:p.Asp76Val, NP_001119587.1:p.Asp76Gly, NP_001119587.1:p.Asp76Ala
              9.

              rs1462159134 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CC>T [Show Flanks]
                Chromosome:
                17:7673764 (GRCh38)
                17:7577082 (GRCh37)
                Canonical SPDI:
                NC_000017.11:7673763:CC:T
                Gene:
                TP53 (Varview)
                Functional Consequence:
                frameshift_variant,coding_sequence_variant
                HGVS:
                NC_000017.11:g.7673764_7673765delinsT, NC_000017.10:g.7577082_7577083delinsT, NG_017013.2:g.18786_18787delinsA, NM_000546.6:c.855_856delinsA, NM_000546.5:c.855_856delinsA, NM_001276696.3:c.738_739delinsA, NM_001276696.2:c.738_739delinsA, NM_001276696.1:c.738_739delinsA, NM_001126114.3:c.855_856delinsA, NM_001126114.2:c.855_856delinsA, NM_001276695.3:c.738_739delinsA, NM_001276695.2:c.738_739delinsA, NM_001276695.1:c.738_739delinsA, NM_001126113.3:c.855_856delinsA, NM_001126113.2:c.855_856delinsA, NM_001276760.3:c.738_739delinsA, NM_001276760.2:c.738_739delinsA, NM_001276760.1:c.738_739delinsA, NM_001276761.3:c.738_739delinsA, NM_001276761.2:c.738_739delinsA, NM_001276761.1:c.738_739delinsA, NM_001126112.3:c.855_856delinsA, NM_001126112.2:c.855_856delinsA, NM_001276698.3:c.378_379delinsA, NM_001276698.2:c.378_379delinsA, NM_001276698.1:c.378_379delinsA, NM_001276699.3:c.378_379delinsA, NM_001276699.2:c.378_379delinsA, NM_001276699.1:c.378_379delinsA, NM_001276697.3:c.378_379delinsA, NM_001276697.2:c.378_379delinsA, NM_001276697.1:c.378_379delinsA, NM_001126118.2:c.738_739delinsA, NM_001126118.1:c.738_739delinsA, NM_001126116.2:c.459_460delinsA, NM_001126116.1:c.459_460delinsA, NM_001126117.2:c.459_460delinsA, NM_001126117.1:c.459_460delinsA, NM_001126115.2:c.459_460delinsA, NM_001126115.1:c.459_460delinsA, NM_001407271.1:c.738_739delinsA, NM_001407270.1:c.855_856delinsA, NM_001407269.1:c.738_739delinsA, NM_001407268.1:c.855_856delinsA, NM_001407263.1:c.738_739delinsA, NM_001407262.1:c.855_856delinsA, NM_001407267.1:c.738_739delinsA, NM_001407266.1:c.855_856delinsA, NM_001407265.1:c.738_739delinsA, NM_001407264.1:c.855_856delinsA, NR_176326.1:n.884_885delinsA, NP_000537.3:p.Glu286fs, NP_001263625.1:p.Glu247fs, NP_001119586.1:p.Glu286fs, NP_001263624.1:p.Glu247fs, NP_001119585.1:p.Glu286fs, NP_001263689.1:p.Glu247fs, NP_001263690.1:p.Glu247fs, NP_001119584.1:p.Glu286fs, NP_001263627.1:p.Glu127fs, NP_001263628.1:p.Glu127fs, NP_001263626.1:p.Glu127fs, NP_001119590.1:p.Glu247fs, NP_001119588.1:p.Glu154fs, NP_001119589.1:p.Glu154fs, NP_001119587.1:p.Glu154fs
                10.

                rs1460793472 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  17:7676187 (GRCh38)
                  17:7579505 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:7676186:T:A,NC_000017.11:7676186:T:C
                  Gene:
                  TP53 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Clinical significance:
                  uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000017.11:g.7676187T>A, NC_000017.11:g.7676187T>C, NC_000017.10:g.7579505T>A, NC_000017.10:g.7579505T>C, NG_017013.2:g.16364A>T, NG_017013.2:g.16364A>G, NM_000546.6:c.182A>T, NM_000546.6:c.182A>G, NM_000546.5:c.182A>T, NM_000546.5:c.182A>G, NM_001276696.3:c.65A>T, NM_001276696.3:c.65A>G, NM_001276696.2:c.65A>T, NM_001276696.2:c.65A>G, NM_001276696.1:c.65A>T, NM_001276696.1:c.65A>G, NM_001126114.3:c.182A>T, NM_001126114.3:c.182A>G, NM_001126114.2:c.182A>T, NM_001126114.2:c.182A>G, NM_001276695.3:c.65A>T, NM_001276695.3:c.65A>G, NM_001276695.2:c.65A>T, NM_001276695.2:c.65A>G, NM_001276695.1:c.65A>T, NM_001276695.1:c.65A>G, NM_001126113.3:c.182A>T, NM_001126113.3:c.182A>G, NM_001126113.2:c.182A>T, NM_001126113.2:c.182A>G, NM_001276760.3:c.65A>T, NM_001276760.3:c.65A>G, NM_001276760.2:c.65A>T, NM_001276760.2:c.65A>G, NM_001276760.1:c.65A>T, NM_001276760.1:c.65A>G, NM_001276761.3:c.65A>T, NM_001276761.3:c.65A>G, NM_001276761.2:c.65A>T, NM_001276761.2:c.65A>G, NM_001276761.1:c.65A>T, NM_001276761.1:c.65A>G, NM_001126112.3:c.182A>T, NM_001126112.3:c.182A>G, NM_001126112.2:c.182A>T, NM_001126112.2:c.182A>G, NM_001126118.2:c.65A>T, NM_001126118.2:c.65A>G, NM_001126118.1:c.65A>T, NM_001126118.1:c.65A>G, NM_001407271.1:c.65A>T, NM_001407271.1:c.65A>G, NM_001407270.1:c.182A>T, NM_001407270.1:c.182A>G, NM_001407269.1:c.65A>T, NM_001407269.1:c.65A>G, NM_001407268.1:c.182A>T, NM_001407268.1:c.182A>G, NM_001407263.1:c.65A>T, NM_001407263.1:c.65A>G, NM_001407262.1:c.182A>T, NM_001407262.1:c.182A>G, NM_001407267.1:c.65A>T, NM_001407267.1:c.65A>G, NM_001407266.1:c.182A>T, NM_001407266.1:c.182A>G, NM_001407265.1:c.65A>T, NM_001407265.1:c.65A>G, NM_001407264.1:c.182A>T, NM_001407264.1:c.182A>G, NR_176326.1:n.324A>T, NR_176326.1:n.324A>G, NP_000537.3:p.Asp61Val, NP_000537.3:p.Asp61Gly, NP_001263625.1:p.Asp22Val, NP_001263625.1:p.Asp22Gly, NP_001119586.1:p.Asp61Val, NP_001119586.1:p.Asp61Gly, NP_001263624.1:p.Asp22Val, NP_001263624.1:p.Asp22Gly, NP_001119585.1:p.Asp61Val, NP_001119585.1:p.Asp61Gly, NP_001263689.1:p.Asp22Val, NP_001263689.1:p.Asp22Gly, NP_001263690.1:p.Asp22Val, NP_001263690.1:p.Asp22Gly, NP_001119584.1:p.Asp61Val, NP_001119584.1:p.Asp61Gly, NP_001119590.1:p.Asp22Val, NP_001119590.1:p.Asp22Gly
                  11.

                  rs1457582183 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C,T [Show Flanks]
                    Chromosome:
                    17:7673608 (GRCh38)
                    17:7576926 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:7673607:G:A,NC_000017.11:7673607:G:C,NC_000017.11:7673607:G:T
                    Gene:
                    TP53 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.7673608G>A, NC_000017.11:g.7673608G>C, NC_000017.11:g.7673608G>T, NC_000017.10:g.7576926G>A, NC_000017.10:g.7576926G>C, NC_000017.10:g.7576926G>T, NG_017013.2:g.18943C>T, NG_017013.2:g.18943C>G, NG_017013.2:g.18943C>A, NM_000546.6:c.920C>T, NM_000546.6:c.920C>G, NM_000546.6:c.920C>A, NM_000546.5:c.920C>T, NM_000546.5:c.920C>G, NM_000546.5:c.920C>A, NM_001276696.3:c.803C>T, NM_001276696.3:c.803C>G, NM_001276696.3:c.803C>A, NM_001276696.2:c.803C>T, NM_001276696.2:c.803C>G, NM_001276696.2:c.803C>A, NM_001276696.1:c.803C>T, NM_001276696.1:c.803C>G, NM_001276696.1:c.803C>A, NM_001126114.3:c.920C>T, NM_001126114.3:c.920C>G, NM_001126114.3:c.920C>A, NM_001126114.2:c.920C>T, NM_001126114.2:c.920C>G, NM_001126114.2:c.920C>A, NM_001276695.3:c.803C>T, NM_001276695.3:c.803C>G, NM_001276695.3:c.803C>A, NM_001276695.2:c.803C>T, NM_001276695.2:c.803C>G, NM_001276695.2:c.803C>A, NM_001276695.1:c.803C>T, NM_001276695.1:c.803C>G, NM_001276695.1:c.803C>A, NM_001126113.3:c.920C>T, NM_001126113.3:c.920C>G, NM_001126113.3:c.920C>A, NM_001126113.2:c.920C>T, NM_001126113.2:c.920C>G, NM_001126113.2:c.920C>A, NM_001276760.3:c.803C>T, NM_001276760.3:c.803C>G, NM_001276760.3:c.803C>A, NM_001276760.2:c.803C>T, NM_001276760.2:c.803C>G, NM_001276760.2:c.803C>A, NM_001276760.1:c.803C>T, NM_001276760.1:c.803C>G, NM_001276760.1:c.803C>A, NM_001276761.3:c.803C>T, NM_001276761.3:c.803C>G, NM_001276761.3:c.803C>A, NM_001276761.2:c.803C>T, NM_001276761.2:c.803C>G, NM_001276761.2:c.803C>A, NM_001276761.1:c.803C>T, NM_001276761.1:c.803C>G, NM_001276761.1:c.803C>A, NM_001126112.3:c.920C>T, NM_001126112.3:c.920C>G, NM_001126112.3:c.920C>A, NM_001126112.2:c.920C>T, NM_001126112.2:c.920C>G, NM_001126112.2:c.920C>A, NM_001276698.3:c.443C>T, NM_001276698.3:c.443C>G, NM_001276698.3:c.443C>A, NM_001276698.2:c.443C>T, NM_001276698.2:c.443C>G, NM_001276698.2:c.443C>A, NM_001276698.1:c.443C>T, NM_001276698.1:c.443C>G, NM_001276698.1:c.443C>A, NM_001276699.3:c.443C>T, NM_001276699.3:c.443C>G, NM_001276699.3:c.443C>A, NM_001276699.2:c.443C>T, NM_001276699.2:c.443C>G, NM_001276699.2:c.443C>A, NM_001276699.1:c.443C>T, NM_001276699.1:c.443C>G, NM_001276699.1:c.443C>A, NM_001276697.3:c.443C>T, NM_001276697.3:c.443C>G, NM_001276697.3:c.443C>A, NM_001276697.2:c.443C>T, NM_001276697.2:c.443C>G, NM_001276697.2:c.443C>A, NM_001276697.1:c.443C>T, NM_001276697.1:c.443C>G, NM_001276697.1:c.443C>A, NM_001126118.2:c.803C>T, NM_001126118.2:c.803C>G, NM_001126118.2:c.803C>A, NM_001126118.1:c.803C>T, NM_001126118.1:c.803C>G, NM_001126118.1:c.803C>A, NM_001126116.2:c.524C>T, NM_001126116.2:c.524C>G, NM_001126116.2:c.524C>A, NM_001126116.1:c.524C>T, NM_001126116.1:c.524C>G, NM_001126116.1:c.524C>A, NM_001126117.2:c.524C>T, NM_001126117.2:c.524C>G, NM_001126117.2:c.524C>A, NM_001126117.1:c.524C>T, NM_001126117.1:c.524C>G, NM_001126117.1:c.524C>A, NM_001126115.2:c.524C>T, NM_001126115.2:c.524C>G, NM_001126115.2:c.524C>A, NM_001126115.1:c.524C>T, NM_001126115.1:c.524C>G, NM_001126115.1:c.524C>A, NM_001407271.1:c.803C>T, NM_001407271.1:c.803C>G, NM_001407271.1:c.803C>A, NM_001407270.1:c.920C>T, NM_001407270.1:c.920C>G, NM_001407270.1:c.920C>A, NM_001407269.1:c.803C>T, NM_001407269.1:c.803C>G, NM_001407269.1:c.803C>A, NM_001407268.1:c.920C>T, NM_001407268.1:c.920C>G, NM_001407268.1:c.920C>A, NM_001407263.1:c.803C>T, NM_001407263.1:c.803C>G, NM_001407263.1:c.803C>A, NM_001407262.1:c.920C>T, NM_001407262.1:c.920C>G, NM_001407262.1:c.920C>A, NM_001407267.1:c.803C>T, NM_001407267.1:c.803C>G, NM_001407267.1:c.803C>A, NM_001407266.1:c.920C>T, NM_001407266.1:c.920C>G, NM_001407266.1:c.920C>A, NM_001407265.1:c.803C>T, NM_001407265.1:c.803C>G, NM_001407265.1:c.803C>A, NM_001407264.1:c.920C>T, NM_001407264.1:c.920C>G, NM_001407264.1:c.920C>A, NR_176326.1:n.949C>T, NR_176326.1:n.949C>G, NR_176326.1:n.949C>A, NP_000537.3:p.Ala307Val, NP_000537.3:p.Ala307Gly, NP_000537.3:p.Ala307Glu, NP_001263625.1:p.Ala268Val, NP_001263625.1:p.Ala268Gly, NP_001263625.1:p.Ala268Glu, NP_001119586.1:p.Ala307Val, NP_001119586.1:p.Ala307Gly, NP_001119586.1:p.Ala307Glu, NP_001263624.1:p.Ala268Val, NP_001263624.1:p.Ala268Gly, NP_001263624.1:p.Ala268Glu, NP_001119585.1:p.Ala307Val, NP_001119585.1:p.Ala307Gly, NP_001119585.1:p.Ala307Glu, NP_001263689.1:p.Ala268Val, NP_001263689.1:p.Ala268Gly, NP_001263689.1:p.Ala268Glu, NP_001263690.1:p.Ala268Val, NP_001263690.1:p.Ala268Gly, NP_001263690.1:p.Ala268Glu, NP_001119584.1:p.Ala307Val, NP_001119584.1:p.Ala307Gly, NP_001119584.1:p.Ala307Glu, NP_001263627.1:p.Ala148Val, NP_001263627.1:p.Ala148Gly, NP_001263627.1:p.Ala148Glu, NP_001263628.1:p.Ala148Val, NP_001263628.1:p.Ala148Gly, NP_001263628.1:p.Ala148Glu, NP_001263626.1:p.Ala148Val, NP_001263626.1:p.Ala148Gly, NP_001263626.1:p.Ala148Glu, NP_001119590.1:p.Ala268Val, NP_001119590.1:p.Ala268Gly, NP_001119590.1:p.Ala268Glu, NP_001119588.1:p.Ala175Val, NP_001119588.1:p.Ala175Gly, NP_001119588.1:p.Ala175Glu, NP_001119589.1:p.Ala175Val, NP_001119589.1:p.Ala175Gly, NP_001119589.1:p.Ala175Glu, NP_001119587.1:p.Ala175Val, NP_001119587.1:p.Ala175Gly, NP_001119587.1:p.Ala175Glu
                    12.

                    rs1453167097 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G,T [Show Flanks]
                      Chromosome:
                      17:7675172 (GRCh38)
                      17:7578490 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:7675171:A:C,NC_000017.11:7675171:A:G,NC_000017.11:7675171:A:T
                      Gene:
                      TP53 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,missense_variant,coding_sequence_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000017.11:g.7675172A>C, NC_000017.11:g.7675172A>G, NC_000017.11:g.7675172A>T, NC_000017.10:g.7578490A>C, NC_000017.10:g.7578490A>G, NC_000017.10:g.7578490A>T, NG_017013.2:g.17379T>G, NG_017013.2:g.17379T>C, NG_017013.2:g.17379T>A, NM_000546.6:c.440T>G, NM_000546.6:c.440T>C, NM_000546.6:c.440T>A, NM_000546.5:c.440T>G, NM_000546.5:c.440T>C, NM_000546.5:c.440T>A, NM_001276696.3:c.323T>G, NM_001276696.3:c.323T>C, NM_001276696.3:c.323T>A, NM_001276696.2:c.323T>G, NM_001276696.2:c.323T>C, NM_001276696.2:c.323T>A, NM_001276696.1:c.323T>G, NM_001276696.1:c.323T>C, NM_001276696.1:c.323T>A, NM_001126114.3:c.440T>G, NM_001126114.3:c.440T>C, NM_001126114.3:c.440T>A, NM_001126114.2:c.440T>G, NM_001126114.2:c.440T>C, NM_001126114.2:c.440T>A, NM_001276695.3:c.323T>G, NM_001276695.3:c.323T>C, NM_001276695.3:c.323T>A, NM_001276695.2:c.323T>G, NM_001276695.2:c.323T>C, NM_001276695.2:c.323T>A, NM_001276695.1:c.323T>G, NM_001276695.1:c.323T>C, NM_001276695.1:c.323T>A, NM_001126113.3:c.440T>G, NM_001126113.3:c.440T>C, NM_001126113.3:c.440T>A, NM_001126113.2:c.440T>G, NM_001126113.2:c.440T>C, NM_001126113.2:c.440T>A, NM_001276760.3:c.323T>G, NM_001276760.3:c.323T>C, NM_001276760.3:c.323T>A, NM_001276760.2:c.323T>G, NM_001276760.2:c.323T>C, NM_001276760.2:c.323T>A, NM_001276760.1:c.323T>G, NM_001276760.1:c.323T>C, NM_001276760.1:c.323T>A, NM_001276761.3:c.323T>G, NM_001276761.3:c.323T>C, NM_001276761.3:c.323T>A, NM_001276761.2:c.323T>G, NM_001276761.2:c.323T>C, NM_001276761.2:c.323T>A, NM_001276761.1:c.323T>G, NM_001276761.1:c.323T>C, NM_001276761.1:c.323T>A, NM_001126112.3:c.440T>G, NM_001126112.3:c.440T>C, NM_001126112.3:c.440T>A, NM_001126112.2:c.440T>G, NM_001126112.2:c.440T>C, NM_001126112.2:c.440T>A, NM_001276698.3:c.-38T>G, NM_001276698.3:c.-38T>C, NM_001276698.3:c.-38T>A, NM_001276698.2:c.-38T>G, NM_001276698.2:c.-38T>C, NM_001276698.2:c.-38T>A, NM_001276698.1:c.-38T>G, NM_001276698.1:c.-38T>C, NM_001276698.1:c.-38T>A, NM_001276699.3:c.-38T>G, NM_001276699.3:c.-38T>C, NM_001276699.3:c.-38T>A, NM_001276699.2:c.-38T>G, NM_001276699.2:c.-38T>C, NM_001276699.2:c.-38T>A, NM_001276699.1:c.-38T>G, NM_001276699.1:c.-38T>C, NM_001276699.1:c.-38T>A, NM_001276697.3:c.-38T>G, NM_001276697.3:c.-38T>C, NM_001276697.3:c.-38T>A, NM_001276697.2:c.-38T>G, NM_001276697.2:c.-38T>C, NM_001276697.2:c.-38T>A, NM_001276697.1:c.-38T>G, NM_001276697.1:c.-38T>C, NM_001276697.1:c.-38T>A, NM_001126118.2:c.323T>G, NM_001126118.2:c.323T>C, NM_001126118.2:c.323T>A, NM_001126118.1:c.323T>G, NM_001126118.1:c.323T>C, NM_001126118.1:c.323T>A, NM_001126116.2:c.44T>G, NM_001126116.2:c.44T>C, NM_001126116.2:c.44T>A, NM_001126116.1:c.44T>G, NM_001126116.1:c.44T>C, NM_001126116.1:c.44T>A, NM_001126117.2:c.44T>G, NM_001126117.2:c.44T>C, NM_001126117.2:c.44T>A, NM_001126117.1:c.44T>G, NM_001126117.1:c.44T>C, NM_001126117.1:c.44T>A, NM_001126115.2:c.44T>G, NM_001126115.2:c.44T>C, NM_001126115.2:c.44T>A, NM_001126115.1:c.44T>G, NM_001126115.1:c.44T>C, NM_001126115.1:c.44T>A, NM_001407271.1:c.323T>G, NM_001407271.1:c.323T>C, NM_001407271.1:c.323T>A, NM_001407270.1:c.440T>G, NM_001407270.1:c.440T>C, NM_001407270.1:c.440T>A, NM_001407269.1:c.323T>G, NM_001407269.1:c.323T>C, NM_001407269.1:c.323T>A, NM_001407268.1:c.440T>G, NM_001407268.1:c.440T>C, NM_001407268.1:c.440T>A, NM_001407263.1:c.323T>G, NM_001407263.1:c.323T>C, NM_001407263.1:c.323T>A, NM_001407262.1:c.440T>G, NM_001407262.1:c.440T>C, NM_001407262.1:c.440T>A, NM_001407267.1:c.323T>G, NM_001407267.1:c.323T>C, NM_001407267.1:c.323T>A, NM_001407266.1:c.440T>G, NM_001407266.1:c.440T>C, NM_001407266.1:c.440T>A, NM_001407265.1:c.323T>G, NM_001407265.1:c.323T>C, NM_001407265.1:c.323T>A, NM_001407264.1:c.440T>G, NM_001407264.1:c.440T>C, NM_001407264.1:c.440T>A, NR_176326.1:n.582T>G, NR_176326.1:n.582T>C, NR_176326.1:n.582T>A, NP_000537.3:p.Val147Gly, NP_000537.3:p.Val147Ala, NP_000537.3:p.Val147Asp, NP_001263625.1:p.Val108Gly, NP_001263625.1:p.Val108Ala, NP_001263625.1:p.Val108Asp, NP_001119586.1:p.Val147Gly, NP_001119586.1:p.Val147Ala, NP_001119586.1:p.Val147Asp, NP_001263624.1:p.Val108Gly, NP_001263624.1:p.Val108Ala, NP_001263624.1:p.Val108Asp, NP_001119585.1:p.Val147Gly, NP_001119585.1:p.Val147Ala, NP_001119585.1:p.Val147Asp, NP_001263689.1:p.Val108Gly, NP_001263689.1:p.Val108Ala, NP_001263689.1:p.Val108Asp, NP_001263690.1:p.Val108Gly, NP_001263690.1:p.Val108Ala, NP_001263690.1:p.Val108Asp, NP_001119584.1:p.Val147Gly, NP_001119584.1:p.Val147Ala, NP_001119584.1:p.Val147Asp, NP_001119590.1:p.Val108Gly, NP_001119590.1:p.Val108Ala, NP_001119590.1:p.Val108Asp, NP_001119588.1:p.Val15Gly, NP_001119588.1:p.Val15Ala, NP_001119588.1:p.Val15Asp, NP_001119589.1:p.Val15Gly, NP_001119589.1:p.Val15Ala, NP_001119589.1:p.Val15Asp, NP_001119587.1:p.Val15Gly, NP_001119587.1:p.Val15Ala, NP_001119587.1:p.Val15Asp
                      13.

                      rs1452189221 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        17:7674224 (GRCh38)
                        17:7577542 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:7674223:T:C,NC_000017.11:7674223:T:G
                        Gene:
                        TP53 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000017.11:g.7674224T>C, NC_000017.11:g.7674224T>G, NC_000017.10:g.7577542T>C, NC_000017.10:g.7577542T>G, NG_017013.2:g.18327A>G, NG_017013.2:g.18327A>C, NM_000546.6:c.739A>G, NM_000546.6:c.739A>C, NM_000546.5:c.739A>G, NM_000546.5:c.739A>C, NM_001276696.3:c.622A>G, NM_001276696.3:c.622A>C, NM_001276696.2:c.622A>G, NM_001276696.2:c.622A>C, NM_001276696.1:c.622A>G, NM_001276696.1:c.622A>C, NM_001126114.3:c.739A>G, NM_001126114.3:c.739A>C, NM_001126114.2:c.739A>G, NM_001126114.2:c.739A>C, NM_001276695.3:c.622A>G, NM_001276695.3:c.622A>C, NM_001276695.2:c.622A>G, NM_001276695.2:c.622A>C, NM_001276695.1:c.622A>G, NM_001276695.1:c.622A>C, NM_001126113.3:c.739A>G, NM_001126113.3:c.739A>C, NM_001126113.2:c.739A>G, NM_001126113.2:c.739A>C, NM_001276760.3:c.622A>G, NM_001276760.3:c.622A>C, NM_001276760.2:c.622A>G, NM_001276760.2:c.622A>C, NM_001276760.1:c.622A>G, NM_001276760.1:c.622A>C, NM_001276761.3:c.622A>G, NM_001276761.3:c.622A>C, NM_001276761.2:c.622A>G, NM_001276761.2:c.622A>C, NM_001276761.1:c.622A>G, NM_001276761.1:c.622A>C, NM_001126112.3:c.739A>G, NM_001126112.3:c.739A>C, NM_001126112.2:c.739A>G, NM_001126112.2:c.739A>C, NM_001276698.3:c.262A>G, NM_001276698.3:c.262A>C, NM_001276698.2:c.262A>G, NM_001276698.2:c.262A>C, NM_001276698.1:c.262A>G, NM_001276698.1:c.262A>C, NM_001276699.3:c.262A>G, NM_001276699.3:c.262A>C, NM_001276699.2:c.262A>G, NM_001276699.2:c.262A>C, NM_001276699.1:c.262A>G, NM_001276699.1:c.262A>C, NM_001276697.3:c.262A>G, NM_001276697.3:c.262A>C, NM_001276697.2:c.262A>G, NM_001276697.2:c.262A>C, NM_001276697.1:c.262A>G, NM_001276697.1:c.262A>C, NM_001126118.2:c.622A>G, NM_001126118.2:c.622A>C, NM_001126118.1:c.622A>G, NM_001126118.1:c.622A>C, NM_001126116.2:c.343A>G, NM_001126116.2:c.343A>C, NM_001126116.1:c.343A>G, NM_001126116.1:c.343A>C, NM_001126117.2:c.343A>G, NM_001126117.2:c.343A>C, NM_001126117.1:c.343A>G, NM_001126117.1:c.343A>C, NM_001126115.2:c.343A>G, NM_001126115.2:c.343A>C, NM_001126115.1:c.343A>G, NM_001126115.1:c.343A>C, NM_001407271.1:c.622A>G, NM_001407271.1:c.622A>C, NM_001407270.1:c.739A>G, NM_001407270.1:c.739A>C, NM_001407269.1:c.622A>G, NM_001407269.1:c.622A>C, NM_001407268.1:c.739A>G, NM_001407268.1:c.739A>C, NM_001407263.1:c.622A>G, NM_001407263.1:c.622A>C, NM_001407262.1:c.739A>G, NM_001407262.1:c.739A>C, NM_001407267.1:c.622A>G, NM_001407267.1:c.622A>C, NM_001407266.1:c.739A>G, NM_001407266.1:c.739A>C, NM_001407265.1:c.622A>G, NM_001407265.1:c.622A>C, NM_001407264.1:c.739A>G, NM_001407264.1:c.739A>C, NR_176326.1:n.768A>G, NR_176326.1:n.768A>C, NP_000537.3:p.Asn247Asp, NP_000537.3:p.Asn247His, NP_001263625.1:p.Asn208Asp, NP_001263625.1:p.Asn208His, NP_001119586.1:p.Asn247Asp, NP_001119586.1:p.Asn247His, NP_001263624.1:p.Asn208Asp, NP_001263624.1:p.Asn208His, NP_001119585.1:p.Asn247Asp, NP_001119585.1:p.Asn247His, NP_001263689.1:p.Asn208Asp, NP_001263689.1:p.Asn208His, NP_001263690.1:p.Asn208Asp, NP_001263690.1:p.Asn208His, NP_001119584.1:p.Asn247Asp, NP_001119584.1:p.Asn247His, NP_001263627.1:p.Asn88Asp, NP_001263627.1:p.Asn88His, NP_001263628.1:p.Asn88Asp, NP_001263628.1:p.Asn88His, NP_001263626.1:p.Asn88Asp, NP_001263626.1:p.Asn88His, NP_001119590.1:p.Asn208Asp, NP_001119590.1:p.Asn208His, NP_001119588.1:p.Asn115Asp, NP_001119588.1:p.Asn115His, NP_001119589.1:p.Asn115Asp, NP_001119589.1:p.Asn115His, NP_001119587.1:p.Asn115Asp, NP_001119587.1:p.Asn115His
                        14.

                        rs1445371843 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C,G [Show Flanks]
                          Chromosome:
                          17:7676111 (GRCh38)
                          17:7579429 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:7676110:T:A,NC_000017.11:7676110:T:C,NC_000017.11:7676110:T:G
                          Gene:
                          TP53 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
                          Validated:
                          by cluster
                          HGVS:
                          NC_000017.11:g.7676111T>A, NC_000017.11:g.7676111T>C, NC_000017.11:g.7676111T>G, NC_000017.10:g.7579429T>A, NC_000017.10:g.7579429T>C, NC_000017.10:g.7579429T>G, NG_017013.2:g.16440A>T, NG_017013.2:g.16440A>G, NG_017013.2:g.16440A>C, NM_000546.6:c.258A>T, NM_000546.6:c.258A>G, NM_000546.6:c.258A>C, NM_000546.5:c.258A>T, NM_000546.5:c.258A>G, NM_000546.5:c.258A>C, NM_001276696.3:c.141A>T, NM_001276696.3:c.141A>G, NM_001276696.3:c.141A>C, NM_001276696.2:c.141A>T, NM_001276696.2:c.141A>G, NM_001276696.2:c.141A>C, NM_001276696.1:c.141A>T, NM_001276696.1:c.141A>G, NM_001276696.1:c.141A>C, NM_001126114.3:c.258A>T, NM_001126114.3:c.258A>G, NM_001126114.3:c.258A>C, NM_001126114.2:c.258A>T, NM_001126114.2:c.258A>G, NM_001126114.2:c.258A>C, NM_001276695.3:c.141A>T, NM_001276695.3:c.141A>G, NM_001276695.3:c.141A>C, NM_001276695.2:c.141A>T, NM_001276695.2:c.141A>G, NM_001276695.2:c.141A>C, NM_001276695.1:c.141A>T, NM_001276695.1:c.141A>G, NM_001276695.1:c.141A>C, NM_001126113.3:c.258A>T, NM_001126113.3:c.258A>G, NM_001126113.3:c.258A>C, NM_001126113.2:c.258A>T, NM_001126113.2:c.258A>G, NM_001126113.2:c.258A>C, NM_001276760.3:c.141A>T, NM_001276760.3:c.141A>G, NM_001276760.3:c.141A>C, NM_001276760.2:c.141A>T, NM_001276760.2:c.141A>G, NM_001276760.2:c.141A>C, NM_001276760.1:c.141A>T, NM_001276760.1:c.141A>G, NM_001276760.1:c.141A>C, NM_001276761.3:c.141A>T, NM_001276761.3:c.141A>G, NM_001276761.3:c.141A>C, NM_001276761.2:c.141A>T, NM_001276761.2:c.141A>G, NM_001276761.2:c.141A>C, NM_001276761.1:c.141A>T, NM_001276761.1:c.141A>G, NM_001276761.1:c.141A>C, NM_001126112.3:c.258A>T, NM_001126112.3:c.258A>G, NM_001126112.3:c.258A>C, NM_001126112.2:c.258A>T, NM_001126112.2:c.258A>G, NM_001126112.2:c.258A>C, NM_001126118.2:c.141A>T, NM_001126118.2:c.141A>G, NM_001126118.2:c.141A>C, NM_001126118.1:c.141A>T, NM_001126118.1:c.141A>G, NM_001126118.1:c.141A>C, NM_001407271.1:c.141A>T, NM_001407271.1:c.141A>G, NM_001407271.1:c.141A>C, NM_001407270.1:c.258A>T, NM_001407270.1:c.258A>G, NM_001407270.1:c.258A>C, NM_001407269.1:c.141A>T, NM_001407269.1:c.141A>G, NM_001407269.1:c.141A>C, NM_001407268.1:c.258A>T, NM_001407268.1:c.258A>G, NM_001407268.1:c.258A>C, NM_001407263.1:c.141A>T, NM_001407263.1:c.141A>G, NM_001407263.1:c.141A>C, NM_001407262.1:c.258A>T, NM_001407262.1:c.258A>G, NM_001407262.1:c.258A>C, NM_001407267.1:c.141A>T, NM_001407267.1:c.141A>G, NM_001407267.1:c.141A>C, NM_001407266.1:c.258A>T, NM_001407266.1:c.258A>G, NM_001407266.1:c.258A>C, NM_001407265.1:c.141A>T, NM_001407265.1:c.141A>G, NM_001407265.1:c.141A>C, NM_001407264.1:c.258A>T, NM_001407264.1:c.258A>G, NM_001407264.1:c.258A>C, NR_176326.1:n.400A>T, NR_176326.1:n.400A>G, NR_176326.1:n.400A>C
                          15.

                          rs1443098123 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CG [Show Flanks]
                            Chromosome:
                            17:7675135 (GRCh38)
                            17:7578454 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:7675135:GCGCG:GCGCGCG
                            Gene:
                            TP53 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            GC=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.7675137CG[3], NC_000017.10:g.7578455CG[3], NG_017013.2:g.17412GC[3], NM_000546.6:c.475_476dup, NM_000546.5:c.475_476dup, NM_001276696.3:c.358_359dup, NM_001276696.2:c.358_359dup, NM_001276696.1:c.358_359dup, NM_001126114.3:c.475_476dup, NM_001126114.2:c.475_476dup, NM_001276695.3:c.358_359dup, NM_001276695.2:c.358_359dup, NM_001276695.1:c.358_359dup, NM_001126113.3:c.475_476dup, NM_001126113.2:c.475_476dup, NM_001276760.3:c.358_359dup, NM_001276760.2:c.358_359dup, NM_001276760.1:c.358_359dup, NM_001276761.3:c.358_359dup, NM_001276761.2:c.358_359dup, NM_001276761.1:c.358_359dup, NM_001126112.3:c.475_476dup, NM_001126112.2:c.475_476dup, NM_001276698.3:c.-5GC[3], NM_001276698.2:c.-5GC[3], NM_001276698.1:c.-5GC[3], NM_001276699.3:c.-5GC[3], NM_001276699.2:c.-5GC[3], NM_001276699.1:c.-5GC[3], NM_001276697.3:c.-5GC[3], NM_001276697.2:c.-5GC[3], NM_001276697.1:c.-5GC[3], NM_001126118.2:c.358_359dup, NM_001126118.1:c.358_359dup, NM_001126116.2:c.79_80dup, NM_001126116.1:c.79_80dup, NM_001126117.2:c.79_80dup, NM_001126117.1:c.79_80dup, NM_001126115.2:c.79_80dup, NM_001126115.1:c.79_80dup, NM_001407271.1:c.358_359dup, NM_001407270.1:c.475_476dup, NM_001407269.1:c.358_359dup, NM_001407268.1:c.475_476dup, NM_001407263.1:c.358_359dup, NM_001407262.1:c.475_476dup, NM_001407267.1:c.358_359dup, NM_001407266.1:c.475_476dup, NM_001407265.1:c.358_359dup, NM_001407264.1:c.475_476dup, NR_176326.1:n.615GC[3], NP_000537.3:p.Met160fs, NP_001263625.1:p.Met121fs, NP_001119586.1:p.Met160fs, NP_001263624.1:p.Met121fs, NP_001119585.1:p.Met160fs, NP_001263689.1:p.Met121fs, NP_001263690.1:p.Met121fs, NP_001119584.1:p.Met160fs, NP_001119590.1:p.Met121fs, NP_001119588.1:p.Met28fs, NP_001119589.1:p.Met28fs, NP_001119587.1:p.Met28fs
                            16.

                            rs1442824382 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              17:7676199 (GRCh38)
                              17:7579517 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:7676198:T:C,NC_000017.11:7676198:T:G
                              Gene:
                              TP53 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by cluster
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.7676199T>C, NC_000017.11:g.7676199T>G, NC_000017.10:g.7579517T>C, NC_000017.10:g.7579517T>G, NG_017013.2:g.16352A>G, NG_017013.2:g.16352A>C, NM_000546.6:c.170A>G, NM_000546.6:c.170A>C, NM_000546.5:c.170A>G, NM_000546.5:c.170A>C, NM_001276696.3:c.53A>G, NM_001276696.3:c.53A>C, NM_001276696.2:c.53A>G, NM_001276696.2:c.53A>C, NM_001276696.1:c.53A>G, NM_001276696.1:c.53A>C, NM_001126114.3:c.170A>G, NM_001126114.3:c.170A>C, NM_001126114.2:c.170A>G, NM_001126114.2:c.170A>C, NM_001276695.3:c.53A>G, NM_001276695.3:c.53A>C, NM_001276695.2:c.53A>G, NM_001276695.2:c.53A>C, NM_001276695.1:c.53A>G, NM_001276695.1:c.53A>C, NM_001126113.3:c.170A>G, NM_001126113.3:c.170A>C, NM_001126113.2:c.170A>G, NM_001126113.2:c.170A>C, NM_001276760.3:c.53A>G, NM_001276760.3:c.53A>C, NM_001276760.2:c.53A>G, NM_001276760.2:c.53A>C, NM_001276760.1:c.53A>G, NM_001276760.1:c.53A>C, NM_001276761.3:c.53A>G, NM_001276761.3:c.53A>C, NM_001276761.2:c.53A>G, NM_001276761.2:c.53A>C, NM_001276761.1:c.53A>G, NM_001276761.1:c.53A>C, NM_001126112.3:c.170A>G, NM_001126112.3:c.170A>C, NM_001126112.2:c.170A>G, NM_001126112.2:c.170A>C, NM_001126118.2:c.53A>G, NM_001126118.2:c.53A>C, NM_001126118.1:c.53A>G, NM_001126118.1:c.53A>C, NM_001407271.1:c.53A>G, NM_001407271.1:c.53A>C, NM_001407270.1:c.170A>G, NM_001407270.1:c.170A>C, NM_001407269.1:c.53A>G, NM_001407269.1:c.53A>C, NM_001407268.1:c.170A>G, NM_001407268.1:c.170A>C, NM_001407263.1:c.53A>G, NM_001407263.1:c.53A>C, NM_001407262.1:c.170A>G, NM_001407262.1:c.170A>C, NM_001407267.1:c.53A>G, NM_001407267.1:c.53A>C, NM_001407266.1:c.170A>G, NM_001407266.1:c.170A>C, NM_001407265.1:c.53A>G, NM_001407265.1:c.53A>C, NM_001407264.1:c.170A>G, NM_001407264.1:c.170A>C, NR_176326.1:n.312A>G, NR_176326.1:n.312A>C, NP_000537.3:p.Asp57Gly, NP_000537.3:p.Asp57Ala, NP_001263625.1:p.Asp18Gly, NP_001263625.1:p.Asp18Ala, NP_001119586.1:p.Asp57Gly, NP_001119586.1:p.Asp57Ala, NP_001263624.1:p.Asp18Gly, NP_001263624.1:p.Asp18Ala, NP_001119585.1:p.Asp57Gly, NP_001119585.1:p.Asp57Ala, NP_001263689.1:p.Asp18Gly, NP_001263689.1:p.Asp18Ala, NP_001263690.1:p.Asp18Gly, NP_001263690.1:p.Asp18Ala, NP_001119584.1:p.Asp57Gly, NP_001119584.1:p.Asp57Ala, NP_001119590.1:p.Asp18Gly, NP_001119590.1:p.Asp18Ala
                              17.

                              rs1438095083 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                17:7675227 (GRCh38)
                                17:7578545 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:7675226:C:A,NC_000017.11:7675226:C:G,NC_000017.11:7675226:C:T
                                Gene:
                                TP53 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                Clinical significance:
                                uncertain-significance,likely-benign,conflicting-interpretations-of-pathogenicity
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000017.11:g.7675227C>A, NC_000017.11:g.7675227C>G, NC_000017.11:g.7675227C>T, NC_000017.10:g.7578545C>A, NC_000017.10:g.7578545C>G, NC_000017.10:g.7578545C>T, NG_017013.2:g.17324G>T, NG_017013.2:g.17324G>C, NG_017013.2:g.17324G>A, NM_000546.6:c.385G>T, NM_000546.6:c.385G>C, NM_000546.6:c.385G>A, NM_000546.5:c.385G>T, NM_000546.5:c.385G>C, NM_000546.5:c.385G>A, NM_001276696.3:c.268G>T, NM_001276696.3:c.268G>C, NM_001276696.3:c.268G>A, NM_001276696.2:c.268G>T, NM_001276696.2:c.268G>C, NM_001276696.2:c.268G>A, NM_001276696.1:c.268G>T, NM_001276696.1:c.268G>C, NM_001276696.1:c.268G>A, NM_001126114.3:c.385G>T, NM_001126114.3:c.385G>C, NM_001126114.3:c.385G>A, NM_001126114.2:c.385G>T, NM_001126114.2:c.385G>C, NM_001126114.2:c.385G>A, NM_001276695.3:c.268G>T, NM_001276695.3:c.268G>C, NM_001276695.3:c.268G>A, NM_001276695.2:c.268G>T, NM_001276695.2:c.268G>C, NM_001276695.2:c.268G>A, NM_001276695.1:c.268G>T, NM_001276695.1:c.268G>C, NM_001276695.1:c.268G>A, NM_001126113.3:c.385G>T, NM_001126113.3:c.385G>C, NM_001126113.3:c.385G>A, NM_001126113.2:c.385G>T, NM_001126113.2:c.385G>C, NM_001126113.2:c.385G>A, NM_001276760.3:c.268G>T, NM_001276760.3:c.268G>C, NM_001276760.3:c.268G>A, NM_001276760.2:c.268G>T, NM_001276760.2:c.268G>C, NM_001276760.2:c.268G>A, NM_001276760.1:c.268G>T, NM_001276760.1:c.268G>C, NM_001276760.1:c.268G>A, NM_001276761.3:c.268G>T, NM_001276761.3:c.268G>C, NM_001276761.3:c.268G>A, NM_001276761.2:c.268G>T, NM_001276761.2:c.268G>C, NM_001276761.2:c.268G>A, NM_001276761.1:c.268G>T, NM_001276761.1:c.268G>C, NM_001276761.1:c.268G>A, NM_001126112.3:c.385G>T, NM_001126112.3:c.385G>C, NM_001126112.3:c.385G>A, NM_001126112.2:c.385G>T, NM_001126112.2:c.385G>C, NM_001126112.2:c.385G>A, NM_001276698.3:c.-93G>T, NM_001276698.3:c.-93G>C, NM_001276698.3:c.-93G>A, NM_001276698.2:c.-93G>T, NM_001276698.2:c.-93G>C, NM_001276698.2:c.-93G>A, NM_001276698.1:c.-93G>T, NM_001276698.1:c.-93G>C, NM_001276698.1:c.-93G>A, NM_001276699.3:c.-93G>T, NM_001276699.3:c.-93G>C, NM_001276699.3:c.-93G>A, NM_001276699.2:c.-93G>T, NM_001276699.2:c.-93G>C, NM_001276699.2:c.-93G>A, NM_001276699.1:c.-93G>T, NM_001276699.1:c.-93G>C, NM_001276699.1:c.-93G>A, NM_001276697.3:c.-93G>T, NM_001276697.3:c.-93G>C, NM_001276697.3:c.-93G>A, NM_001276697.2:c.-93G>T, NM_001276697.2:c.-93G>C, NM_001276697.2:c.-93G>A, NM_001276697.1:c.-93G>T, NM_001276697.1:c.-93G>C, NM_001276697.1:c.-93G>A, NM_001126118.2:c.268G>T, NM_001126118.2:c.268G>C, NM_001126118.2:c.268G>A, NM_001126118.1:c.268G>T, NM_001126118.1:c.268G>C, NM_001126118.1:c.268G>A, NM_001126116.2:c.-12G>T, NM_001126116.2:c.-12G>C, NM_001126116.2:c.-12G>A, NM_001126116.1:c.-12G>T, NM_001126116.1:c.-12G>C, NM_001126116.1:c.-12G>A, NM_001126117.2:c.-12G>T, NM_001126117.2:c.-12G>C, NM_001126117.2:c.-12G>A, NM_001126117.1:c.-12G>T, NM_001126117.1:c.-12G>C, NM_001126117.1:c.-12G>A, NM_001126115.2:c.-12G>T, NM_001126115.2:c.-12G>C, NM_001126115.2:c.-12G>A, NM_001126115.1:c.-12G>T, NM_001126115.1:c.-12G>C, NM_001126115.1:c.-12G>A, NM_001407271.1:c.268G>T, NM_001407271.1:c.268G>C, NM_001407271.1:c.268G>A, NM_001407270.1:c.385G>T, NM_001407270.1:c.385G>C, NM_001407270.1:c.385G>A, NM_001407269.1:c.268G>T, NM_001407269.1:c.268G>C, NM_001407269.1:c.268G>A, NM_001407268.1:c.385G>T, NM_001407268.1:c.385G>C, NM_001407268.1:c.385G>A, NM_001407263.1:c.268G>T, NM_001407263.1:c.268G>C, NM_001407263.1:c.268G>A, NM_001407262.1:c.385G>T, NM_001407262.1:c.385G>C, NM_001407262.1:c.385G>A, NM_001407267.1:c.268G>T, NM_001407267.1:c.268G>C, NM_001407267.1:c.268G>A, NM_001407266.1:c.385G>T, NM_001407266.1:c.385G>C, NM_001407266.1:c.385G>A, NM_001407265.1:c.268G>T, NM_001407265.1:c.268G>C, NM_001407265.1:c.268G>A, NM_001407264.1:c.385G>T, NM_001407264.1:c.385G>C, NM_001407264.1:c.385G>A, NR_176326.1:n.527G>T, NR_176326.1:n.527G>C, NR_176326.1:n.527G>A, NP_000537.3:p.Ala129Ser, NP_000537.3:p.Ala129Pro, NP_000537.3:p.Ala129Thr, NP_001263625.1:p.Ala90Ser, NP_001263625.1:p.Ala90Pro, NP_001263625.1:p.Ala90Thr, NP_001119586.1:p.Ala129Ser, NP_001119586.1:p.Ala129Pro, NP_001119586.1:p.Ala129Thr, NP_001263624.1:p.Ala90Ser, NP_001263624.1:p.Ala90Pro, NP_001263624.1:p.Ala90Thr, NP_001119585.1:p.Ala129Ser, NP_001119585.1:p.Ala129Pro, NP_001119585.1:p.Ala129Thr, NP_001263689.1:p.Ala90Ser, NP_001263689.1:p.Ala90Pro, NP_001263689.1:p.Ala90Thr, NP_001263690.1:p.Ala90Ser, NP_001263690.1:p.Ala90Pro, NP_001263690.1:p.Ala90Thr, NP_001119584.1:p.Ala129Ser, NP_001119584.1:p.Ala129Pro, NP_001119584.1:p.Ala129Thr, NP_001119590.1:p.Ala90Ser, NP_001119590.1:p.Ala90Pro, NP_001119590.1:p.Ala90Thr
                                18.

                                rs1435537034 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:7674204 (GRCh38)
                                  17:7577522 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:7674203:G:A
                                  Gene:
                                  TP53 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.7674204G>A, NC_000017.10:g.7577522G>A, NG_017013.2:g.18347C>T, NM_000546.6:c.759C>T, NM_000546.5:c.759C>T, NM_001276696.3:c.642C>T, NM_001276696.2:c.642C>T, NM_001276696.1:c.642C>T, NM_001126114.3:c.759C>T, NM_001126114.2:c.759C>T, NM_001276695.3:c.642C>T, NM_001276695.2:c.642C>T, NM_001276695.1:c.642C>T, NM_001126113.3:c.759C>T, NM_001126113.2:c.759C>T, NM_001276760.3:c.642C>T, NM_001276760.2:c.642C>T, NM_001276760.1:c.642C>T, NM_001276761.3:c.642C>T, NM_001276761.2:c.642C>T, NM_001276761.1:c.642C>T, NM_001126112.3:c.759C>T, NM_001126112.2:c.759C>T, NM_001276698.3:c.282C>T, NM_001276698.2:c.282C>T, NM_001276698.1:c.282C>T, NM_001276699.3:c.282C>T, NM_001276699.2:c.282C>T, NM_001276699.1:c.282C>T, NM_001276697.3:c.282C>T, NM_001276697.2:c.282C>T, NM_001276697.1:c.282C>T, NM_001126118.2:c.642C>T, NM_001126118.1:c.642C>T, NM_001126116.2:c.363C>T, NM_001126116.1:c.363C>T, NM_001126117.2:c.363C>T, NM_001126117.1:c.363C>T, NM_001126115.2:c.363C>T, NM_001126115.1:c.363C>T, NM_001407271.1:c.642C>T, NM_001407270.1:c.759C>T, NM_001407269.1:c.642C>T, NM_001407268.1:c.759C>T, NM_001407263.1:c.642C>T, NM_001407262.1:c.759C>T, NM_001407267.1:c.642C>T, NM_001407266.1:c.759C>T, NM_001407265.1:c.642C>T, NM_001407264.1:c.759C>T, NR_176326.1:n.788C>T
                                  19.

                                  rs1432281680 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    17:7673561 (GRCh38)
                                    17:7576879 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:7673560:G:A,NC_000017.11:7673560:G:C,NC_000017.11:7673560:G:T
                                    Gene:
                                    TP53 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000895/4 (ALFA)
                                    C=0.000021/3 (GnomAD)
                                    C=0.001116/5 (Estonian)
                                    HGVS:
                                    NC_000017.11:g.7673561G>A, NC_000017.11:g.7673561G>C, NC_000017.11:g.7673561G>T, NC_000017.10:g.7576879G>A, NC_000017.10:g.7576879G>C, NC_000017.10:g.7576879G>T, NG_017013.2:g.18990C>T, NG_017013.2:g.18990C>G, NG_017013.2:g.18990C>A, NM_000546.6:c.967C>T, NM_000546.6:c.967C>G, NM_000546.6:c.967C>A, NM_000546.5:c.967C>T, NM_000546.5:c.967C>G, NM_000546.5:c.967C>A, NM_001276696.3:c.850C>T, NM_001276696.3:c.850C>G, NM_001276696.3:c.850C>A, NM_001276696.2:c.850C>T, NM_001276696.2:c.850C>G, NM_001276696.2:c.850C>A, NM_001276696.1:c.850C>T, NM_001276696.1:c.850C>G, NM_001276696.1:c.850C>A, NM_001126114.3:c.967C>T, NM_001126114.3:c.967C>G, NM_001126114.3:c.967C>A, NM_001126114.2:c.967C>T, NM_001126114.2:c.967C>G, NM_001126114.2:c.967C>A, NM_001276695.3:c.850C>T, NM_001276695.3:c.850C>G, NM_001276695.3:c.850C>A, NM_001276695.2:c.850C>T, NM_001276695.2:c.850C>G, NM_001276695.2:c.850C>A, NM_001276695.1:c.850C>T, NM_001276695.1:c.850C>G, NM_001276695.1:c.850C>A, NM_001126113.3:c.967C>T, NM_001126113.3:c.967C>G, NM_001126113.3:c.967C>A, NM_001126113.2:c.967C>T, NM_001126113.2:c.967C>G, NM_001126113.2:c.967C>A, NM_001276760.3:c.850C>T, NM_001276760.3:c.850C>G, NM_001276760.3:c.850C>A, NM_001276760.2:c.850C>T, NM_001276760.2:c.850C>G, NM_001276760.2:c.850C>A, NM_001276760.1:c.850C>T, NM_001276760.1:c.850C>G, NM_001276760.1:c.850C>A, NM_001276761.3:c.850C>T, NM_001276761.3:c.850C>G, NM_001276761.3:c.850C>A, NM_001276761.2:c.850C>T, NM_001276761.2:c.850C>G, NM_001276761.2:c.850C>A, NM_001276761.1:c.850C>T, NM_001276761.1:c.850C>G, NM_001276761.1:c.850C>A, NM_001126112.3:c.967C>T, NM_001126112.3:c.967C>G, NM_001126112.3:c.967C>A, NM_001126112.2:c.967C>T, NM_001126112.2:c.967C>G, NM_001126112.2:c.967C>A, NM_001276698.3:c.490C>T, NM_001276698.3:c.490C>G, NM_001276698.3:c.490C>A, NM_001276698.2:c.490C>T, NM_001276698.2:c.490C>G, NM_001276698.2:c.490C>A, NM_001276698.1:c.490C>T, NM_001276698.1:c.490C>G, NM_001276698.1:c.490C>A, NM_001276699.3:c.490C>T, NM_001276699.3:c.490C>G, NM_001276699.3:c.490C>A, NM_001276699.2:c.490C>T, NM_001276699.2:c.490C>G, NM_001276699.2:c.490C>A, NM_001276699.1:c.490C>T, NM_001276699.1:c.490C>G, NM_001276699.1:c.490C>A, NM_001276697.3:c.490C>T, NM_001276697.3:c.490C>G, NM_001276697.3:c.490C>A, NM_001276697.2:c.490C>T, NM_001276697.2:c.490C>G, NM_001276697.2:c.490C>A, NM_001276697.1:c.490C>T, NM_001276697.1:c.490C>G, NM_001276697.1:c.490C>A, NM_001126118.2:c.850C>T, NM_001126118.2:c.850C>G, NM_001126118.2:c.850C>A, NM_001126118.1:c.850C>T, NM_001126118.1:c.850C>G, NM_001126118.1:c.850C>A, NM_001126116.2:c.571C>T, NM_001126116.2:c.571C>G, NM_001126116.2:c.571C>A, NM_001126116.1:c.571C>T, NM_001126116.1:c.571C>G, NM_001126116.1:c.571C>A, NM_001126117.2:c.571C>T, NM_001126117.2:c.571C>G, NM_001126117.2:c.571C>A, NM_001126117.1:c.571C>T, NM_001126117.1:c.571C>G, NM_001126117.1:c.571C>A, NM_001126115.2:c.571C>T, NM_001126115.2:c.571C>G, NM_001126115.2:c.571C>A, NM_001126115.1:c.571C>T, NM_001126115.1:c.571C>G, NM_001126115.1:c.571C>A, NM_001407271.1:c.850C>T, NM_001407271.1:c.850C>G, NM_001407271.1:c.850C>A, NM_001407270.1:c.967C>T, NM_001407270.1:c.967C>G, NM_001407270.1:c.967C>A, NM_001407269.1:c.850C>T, NM_001407269.1:c.850C>G, NM_001407269.1:c.850C>A, NM_001407268.1:c.967C>T, NM_001407268.1:c.967C>G, NM_001407268.1:c.967C>A, NM_001407263.1:c.850C>T, NM_001407263.1:c.850C>G, NM_001407263.1:c.850C>A, NM_001407262.1:c.967C>T, NM_001407262.1:c.967C>G, NM_001407262.1:c.967C>A, NM_001407267.1:c.850C>T, NM_001407267.1:c.850C>G, NM_001407267.1:c.850C>A, NM_001407266.1:c.967C>T, NM_001407266.1:c.967C>G, NM_001407266.1:c.967C>A, NM_001407265.1:c.850C>T, NM_001407265.1:c.850C>G, NM_001407265.1:c.850C>A, NM_001407264.1:c.967C>T, NM_001407264.1:c.967C>G, NM_001407264.1:c.967C>A, NR_176326.1:n.996C>T, NR_176326.1:n.996C>G, NR_176326.1:n.996C>A, NP_000537.3:p.Leu323Val, NP_000537.3:p.Leu323Met, NP_001263625.1:p.Leu284Val, NP_001263625.1:p.Leu284Met, NP_001119586.1:p.Leu323Val, NP_001119586.1:p.Leu323Met, NP_001263624.1:p.Leu284Val, NP_001263624.1:p.Leu284Met, NP_001119585.1:p.Leu323Val, NP_001119585.1:p.Leu323Met, NP_001263689.1:p.Leu284Val, NP_001263689.1:p.Leu284Met, NP_001263690.1:p.Leu284Val, NP_001263690.1:p.Leu284Met, NP_001119584.1:p.Leu323Val, NP_001119584.1:p.Leu323Met, NP_001263627.1:p.Leu164Val, NP_001263627.1:p.Leu164Met, NP_001263628.1:p.Leu164Val, NP_001263628.1:p.Leu164Met, NP_001263626.1:p.Leu164Val, NP_001263626.1:p.Leu164Met, NP_001119590.1:p.Leu284Val, NP_001119590.1:p.Leu284Met, NP_001119588.1:p.Leu191Val, NP_001119588.1:p.Leu191Met, NP_001119589.1:p.Leu191Val, NP_001119589.1:p.Leu191Met, NP_001119587.1:p.Leu191Val, NP_001119587.1:p.Leu191Met
                                    20.

                                    rs1429743956 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      17:7674906 (GRCh38)
                                      17:7578224 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:7674905:T:A,NC_000017.11:7674905:T:C
                                      Gene:
                                      TP53 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,stop_gained
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000017.11:g.7674906T>A, NC_000017.11:g.7674906T>C, NC_000017.10:g.7578224T>A, NC_000017.10:g.7578224T>C, NG_017013.2:g.17645A>T, NG_017013.2:g.17645A>G, NM_000546.6:c.625A>T, NM_000546.6:c.625A>G, NM_000546.5:c.625A>T, NM_000546.5:c.625A>G, NM_001276696.3:c.508A>T, NM_001276696.3:c.508A>G, NM_001276696.2:c.508A>T, NM_001276696.2:c.508A>G, NM_001276696.1:c.508A>T, NM_001276696.1:c.508A>G, NM_001126114.3:c.625A>T, NM_001126114.3:c.625A>G, NM_001126114.2:c.625A>T, NM_001126114.2:c.625A>G, NM_001276695.3:c.508A>T, NM_001276695.3:c.508A>G, NM_001276695.2:c.508A>T, NM_001276695.2:c.508A>G, NM_001276695.1:c.508A>T, NM_001276695.1:c.508A>G, NM_001126113.3:c.625A>T, NM_001126113.3:c.625A>G, NM_001126113.2:c.625A>T, NM_001126113.2:c.625A>G, NM_001276760.3:c.508A>T, NM_001276760.3:c.508A>G, NM_001276760.2:c.508A>T, NM_001276760.2:c.508A>G, NM_001276760.1:c.508A>T, NM_001276760.1:c.508A>G, NM_001276761.3:c.508A>T, NM_001276761.3:c.508A>G, NM_001276761.2:c.508A>T, NM_001276761.2:c.508A>G, NM_001276761.1:c.508A>T, NM_001276761.1:c.508A>G, NM_001126112.3:c.625A>T, NM_001126112.3:c.625A>G, NM_001126112.2:c.625A>T, NM_001126112.2:c.625A>G, NM_001276698.3:c.148A>T, NM_001276698.3:c.148A>G, NM_001276698.2:c.148A>T, NM_001276698.2:c.148A>G, NM_001276698.1:c.148A>T, NM_001276698.1:c.148A>G, NM_001276699.3:c.148A>T, NM_001276699.3:c.148A>G, NM_001276699.2:c.148A>T, NM_001276699.2:c.148A>G, NM_001276699.1:c.148A>T, NM_001276699.1:c.148A>G, NM_001276697.3:c.148A>T, NM_001276697.3:c.148A>G, NM_001276697.2:c.148A>T, NM_001276697.2:c.148A>G, NM_001276697.1:c.148A>T, NM_001276697.1:c.148A>G, NM_001126118.2:c.508A>T, NM_001126118.2:c.508A>G, NM_001126118.1:c.508A>T, NM_001126118.1:c.508A>G, NM_001126116.2:c.229A>T, NM_001126116.2:c.229A>G, NM_001126116.1:c.229A>T, NM_001126116.1:c.229A>G, NM_001126117.2:c.229A>T, NM_001126117.2:c.229A>G, NM_001126117.1:c.229A>T, NM_001126117.1:c.229A>G, NM_001126115.2:c.229A>T, NM_001126115.2:c.229A>G, NM_001126115.1:c.229A>T, NM_001126115.1:c.229A>G, NM_001407271.1:c.508A>T, NM_001407271.1:c.508A>G, NM_001407270.1:c.625A>T, NM_001407270.1:c.625A>G, NM_001407269.1:c.508A>T, NM_001407269.1:c.508A>G, NM_001407268.1:c.625A>T, NM_001407268.1:c.625A>G, NM_001407263.1:c.508A>T, NM_001407263.1:c.508A>G, NM_001407262.1:c.625A>T, NM_001407262.1:c.625A>G, NM_001407267.1:c.508A>T, NM_001407267.1:c.508A>G, NM_001407266.1:c.625A>T, NM_001407266.1:c.625A>G, NM_001407265.1:c.508A>T, NM_001407265.1:c.508A>G, NM_001407264.1:c.625A>T, NM_001407264.1:c.625A>G, NP_000537.3:p.Arg209Ter, NP_000537.3:p.Arg209Gly, NP_001263625.1:p.Arg170Ter, NP_001263625.1:p.Arg170Gly, NP_001119586.1:p.Arg209Ter, NP_001119586.1:p.Arg209Gly, NP_001263624.1:p.Arg170Ter, NP_001263624.1:p.Arg170Gly, NP_001119585.1:p.Arg209Ter, NP_001119585.1:p.Arg209Gly, NP_001263689.1:p.Arg170Ter, NP_001263689.1:p.Arg170Gly, NP_001263690.1:p.Arg170Ter, NP_001263690.1:p.Arg170Gly, NP_001119584.1:p.Arg209Ter, NP_001119584.1:p.Arg209Gly, NP_001263627.1:p.Arg50Ter, NP_001263627.1:p.Arg50Gly, NP_001263628.1:p.Arg50Ter, NP_001263628.1:p.Arg50Gly, NP_001263626.1:p.Arg50Ter, NP_001263626.1:p.Arg50Gly, NP_001119590.1:p.Arg170Ter, NP_001119590.1:p.Arg170Gly, NP_001119588.1:p.Arg77Ter, NP_001119588.1:p.Arg77Gly, NP_001119589.1:p.Arg77Ter, NP_001119589.1:p.Arg77Gly, NP_001119587.1:p.Arg77Ter, NP_001119587.1:p.Arg77Gly

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