Table A2.
Patient No. | Age (years) | Sex | p53 Genotype | PEX4 | PIN3 | MDM2SNP309 |
---|---|---|---|---|---|---|
1 | 2.4 | M | P152L | R/R | A1/A1 | G/G |
2 | 5 | F | P219S | R/R | A1/A1 | T/T |
3 | 2.7 | F | Y163C | P/R | A1/A1 | G/T |
4 | 3.7 | M | C275ter | R/R | A1/A1 | T/T |
5 | 1.1 | F | H193P | P/R | A1/A1 | G/T |
6 | 3 | M | T125T c375G>A (r.spl) | R/R | A1/A1 | T/T |
7 | 14.3 | F | F134Y | P/P | A2/A2 | G/T |
8 | 17.8 | F | del exon 10-11 | R/R | A1/A1 | T/T |
9 | 5 | F | R158L | R/R | A1/A1 | G/T |
10 | 14 | M | WT | R/R | A1/A1 | T/T |
11 | 0.5 | F | C229R | R/R | A1/A1 | T/T |
12 | 1.8 | F | G334R | R/R | A1/A1 | G/T |
13 | 2 | M | E180K | R/R | A1/A1 | G/T |
14 | 0.5 | F | T125T c375G>A (r.spl) | P/R | A1/A1 | G/T |
15 | 11 | M | G245C | R/R | A1/A1 | T/T |
16 | 3 | F | G245S | P/R | A1/A1 | T/T |
17 | 1 | F | R337H | R/R | A1/A1 | G/T |
18 | 1 | F | T125T c375G>A (r.spl) | P/R | A1/A2 | G/G |
19 | 15 | F | Q52fs | P/R | A1/A1 | G/G |
20 | 1.4 | F | WT | R/R | A1/A1 | G/T |
21 | 2.3 | F | R158H | P/R | A1/A2 | G/T |
26 | 2.2 | F | WT | R/R | A1/A2 | T/T |
27 | 17 | F | WT | P/R | A1/A1 | G/T |
28 | 13 | F | WT | R/R | A1/A1 | T/T |
29 | F | WT | R/R | A1/A1 | G/T | |
30 | 5 | M | WT | R/R | A1/A1 | G/T |
31 | 0.5 | F | WT | P/P | A1/A2 | G/T |
32 | 3 | M | WT | R/R | A1/A1 | T/T |
33 | 0.5 | F | WT | R/R | A1/A2 | T/T |
34 | 15 | F | WT | R/R | A1/A1 | G/T |
35 | 12 | M | WT | P/R | A1/A2 | T/T |
37 | 0.6 | F | WT | P/R | A1/A1 | G/T |
38 | 2 | F | I254T | P/R | A1/A2 | T/T |
40 | 3.6 | F | WT | R/R | A1/A1 | G/T |
41 | 7.9 | F | S241Y | P/R | A1/A1 | G/T |
42 | 1.4 | F | del exon 10-11 | R/R | A1/A1 | G/T |
43 | M | WT | R/R | A1/A1 | G/T | |
44 | F | C229R | R/R | A1/A1 | T/T | |
45 | 6.2 | M | R273S | P/R | A1/A2 | G/T |
46 | 1.6 | F | WT | R/R | A1/A1 | G/T |
47 | 4 | F | R267Q | P/R | A1/A1 | G/G |
48 | 3 | M | WT | P/P | A1/A2 | G/T |
49 | 0.5 | M | R248L | P/R | A1/A1 | G/T |
50 | 15 | M | P47S | P/P | A1/A1 | T/T |
51 | 17 | M | WT | R/R | A1/A1 | G/T |
52 | 8 | F | WT | P/R | A1/A1 | G/T |
53 | 1 | F | R213P | P/R | A1/A2 | T/T |
54 | 1 | F | WT | R/R | A1/A1 | T/T |
55 | 13 | F | WT | P/R | A1/A1 | G/T |
56 | 20 | F | WT | R/R | A1/A1 | T/T |
57 | 1 | F | WT | R/R | A1/A1 | G/G |
58 | 0.5 | M | E285V | R/R | A1/A1 | G/T |
59 | 7.4 | F | R273H | P/R | A1/A2 | G/T |
61 | 14 | F | WT | P/R | A1/A1 | G/T |
62 | 1 | F | R337H | P/R | A1/A1 | T/T |
64 | 3 | F | del exon 2-10 | P/P | A1/A1 | G/T |
65 | 1 | F | R337H | P/R | A1/A1 | G/T |
66 | 3 | F | R337H | R/R | A1/A1 | G/G |
67 | 3 | F | R337H | R/R | A1/A1 | G/T |
68 | 4 | F | R337H | R/R | A1/A1 | G/G |
70 | 12 | F | WT | P/P | A1/A2 | G/T |
71 | 13 | F | C229R | R/R | A1/A1 | G/T |
72 | F | WT | P/R | A1/A2 | G/T | |
73 | 1.3 | F | WT | R/R | A1/A1 | T/T |
NOTE. See text for details.
Abbreviations: F, female; M, male; SNP, single-nucleotide polymorphism; WT, wild type.