1,045 Matching Annotations
  1. Feb 2021
  2. jmg.bmj.com jmg.bmj.com
    Blood functional assay for rapid clinical interpretation of germline TP53 variants
    200
    1. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    2. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    3. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    4. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 85

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    5. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    6. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    7. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    8. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 125

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    9. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 115

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    10. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    11. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 75

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    12. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    13. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 79

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    14. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    15. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    16. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    17. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 102

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    18. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    19. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 90

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    20. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 85

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    21. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 90

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    22. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 116

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    23. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 103

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    24. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 89

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    25. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.761T>C p.(Ile254Thr)

      CGType:Variant Variant:40 CAID:CA397837761
    26. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.3

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    27. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    28. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
    29. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    30. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    31. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 122

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    32. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    33. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    34. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    35. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 79

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    36. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    37. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    38. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    39. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 78

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    40. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    41. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 89

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    42. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 92

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    43. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    44. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 74

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    45. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    46. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    47. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    48. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    49. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    50. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 117

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    51. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    52. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 112

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    53. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 87

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    54. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 92

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    55. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:4 ValidationControl:WildType AssayControl:Normal
    56. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.

      CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451
    57. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.5, 5.7

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the variant in homozygosity.

      CGType:FunctionalAssayResult FuncAssay:3 Variant:4 CAID:CA000049 ClinVarID:35555
    58. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 20.5

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:1 CAID:CA1139768486
    59. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:42 CAID:CA645588451
    60. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.6, 4.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:17 CAID:CA10584593 ClinVarID:246343
    61. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details; This variant was reported as c.323_235del but assumed to be c.323_325del, which corresponds to the reported protein change (p.(Gly108_Phe109delinsVal)).

      CGType:FunctionalAssayResult FuncAssay:3 Variant:12 CAID:CA1139768485
    62. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4, 5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:7 CAID:CA397832246 ClinVarID:481148
    63. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8, 6.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:6 CAID:CA397832401
    64. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.3

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:48 CAID:CA000457 ClinVarID:127824
    65. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:45 CAID:CA16603061 ClinVarID:376644
    66. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 17.1

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:26 CAID:CA000272 ClinVarID:127816
    67. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:20 CAID:CA000225 ClinVarID:127812
    68. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:18 CAID:CA397842793
    69. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:15 CAID:CA000123 ClinVarID:127808
    70. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.9

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:10 CAID:CA000102 ClinVarID:141114
    71. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:8 CAID:CA000071 ClinVarID:185120
    72. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.9

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:35 CAID:CA000343 ClinVarID:127821 ValidationControl:Benign
    73. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.7

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:41 CAID:CA1139768484 ValidationControl:Pathogenic
    74. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1, 6.0

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:36 CAID:CA497717451 ValidationControl:Pathogenic
    75. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:16 CAID:CA000144 ClinVarID:177825 ValidationControl:Pathogenic
    76. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    77. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    78. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    79. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.8

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:25 CAID:CA000259 ClinVarID:142320 ValidationControl:Pathogenic
    80. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    81. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.7

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    82. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 16

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    83. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.3

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    84. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    85. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 16.3

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    86. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 15.4

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    87. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 19.3

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    88. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 9.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    89. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 9.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    90. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.7

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    91. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 15.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    92. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.4

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    93. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    94. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 17.2

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    95. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 19.7

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    96. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    97. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 17.4

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    98. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.7

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    99. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.2

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    100. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    101. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 18.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    102. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 15.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    103. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.7

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    104. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    105. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    106. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.7

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    107. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 9.4

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    108. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.9

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    109. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    110. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 13

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    111. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.4

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    112. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 15.4

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    113. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 13

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    114. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 22.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    115. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    116. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 16.5

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    117. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    118. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.3

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    119. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.5

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    120. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    121. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    122. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    123. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    124. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 14.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    125. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    126. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.9

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    127. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.1

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    128. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    129. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 12.5

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53

      Comment: See Table S3 for details

      CGType:FunctionalAssayResult FuncAssay:3 ValidationControl:WildType AssayControl:Normal
    130. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 82

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    131. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 80

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
    132. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 69

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
    133. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
    134. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
    135. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 77

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
    136. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
    137. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
    138. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 104

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
    139. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 99

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
    140. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
    141. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
    142. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 86

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
    143. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 56

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
    144. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 61

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
    145. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 51

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
    146. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
    147. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 60

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
    148. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 65

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
    149. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 66

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
    150. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 45

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
    151. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 58

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:3 ValidationControl:Pathogenic
    152. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 49

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:2 ValidationControl:Pathogenic
    153. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 83

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    154. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 84

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
    155. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 91

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
    156. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 94

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
    157. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 97

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
    158. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 98

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
    159. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 96

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
    160. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 105

      AssayResultAssertion: Normal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    161. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 88

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 3

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
    162. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 95

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 2

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
    163. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 1

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:2 ValidationControl:WildType AssayControl:Normal
    164. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:5 CAID:CA000013 ClinVarID:12379 ValidationControl:Pathogenic
    165. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:51 CAID:CA000493 ClinVarID:142702 ValidationControl:Pathogenic
    166. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:50 CAID:CA397836336 ValidationControl:Pathogenic
    167. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:49 CAID:CA000468 ClinVarID:127825 ValidationControl:Pathogenic
    168. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.572C>G p.(Pro191Arg)

      CGType:Variant Variant:26 ClinVarID:127816 CAID:CA000272
    169. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:47 CAID:CA16603074 ClinVarID:376659 ValidationControl:Pathogenic
    170. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:40 CAID:CA397837761 ValidationControl:Pathogenic
    171. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:33 CAID:CA16620623 ClinVarID:420137 ValidationControl:Pathogenic
    172. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:31 CAID:CA000308 ClinVarID:182965 ValidationControl:Pathogenic
    173. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:28 CAID:CA16603033 ClinVarID:376612 ValidationControl:Pathogenic
    174. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:27 CAID:CA16603034 ClinVarID:376613 ValidationControl:Pathogenic
    175. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:22 CAID:CA16603066 ClinVarID:376649 ValidationControl:Pathogenic
    176. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:14 CAID:CA397844631 ValidationControl:Pathogenic
    177. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:11 CAID:CA000106 ClinVarID:41723 ValidationControl:Pathogenic
    178. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:44 CAID:CA497716198 ValidationControl:Pathogenic
    179. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:34 CAID:CA645588668 ValidationControl:Pathogenic
    180. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:32 CAID:CA397839547 ClinVarID:458555 ValidationControl:Pathogenic
    181. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:29 CAID:CA1139768487 ValidationControl:Pathogenic
    182. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 8.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:21 CAID:CA645588993 ValidationControl:Pathogenic
    183. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:19 CAID:CA497925664 ClinVarID:634779 ValidationControl:Pathogenic
    184. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:13 CAID:CA645369686 ClinVarID:428860 ValidationControl:Pathogenic
    185. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:9 CAID:CA000073 ClinVarID:182957 ValidationControl:Pathogenic
    186. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:3 ValidationControl:Pathogenic
    187. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:2 ValidationControl:Pathogenic
    188. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:46 CAID:CA000454 ClinVarID:12364 ValidationControl:Pathogenic
    189. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:43 CAID:CA000434 ClinVarID:12366 ValidationControl:Pathogenic
    190. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:39 CAID:CA000387 ClinVarID:12356 ValidationControl:Pathogenic
    191. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:38 CAID:CA000382 ClinVarID:12347 ValidationControl:Pathogenic
    192. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:37 CAID:CA000374 ClinVarID:100815 ValidationControl:Pathogenic
    193. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:30 CAID:CA000302 ClinVarID:135359 ValidationControl:Pathogenic
    194. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:24 CAID:CA000256 ClinVarID:127815 ValidationControl:Pathogenic
    195. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 Variant:23 CAID:CA000251 ClinVarID:12374 ValidationControl:Pathogenic
    196. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 11.5

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 3

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    197. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 2

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    198. shannon_mcnulty 24 Feb 2021
      Supplemental material

      AssayResult: 13.6

      AssayResultAssertion: Normal

      ControlType: Normal, wild type TP53 from control 1

      Comment: See Table S2 for details

      CGType:FunctionalAssayResult FuncAssay:1 ValidationControl:WildType AssayControl:Normal
    199. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.*1175A>C

      CGType:Variant Variant:4 ClinVarID:35555 CAID:CA000049
    200. shannon_mcnulty 24 Feb 2021
      We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.-117G>T

      CGType:Variant Variant:1 CAID:CA1139768486
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    jmg.bmj.com/content/early/2020/10/13/jmedgenet-2020-107059