Patient | Age of diagnosis (years) | Age of test (years) | OMS score | Nucleotide change | Amino acid substitution |
---|---|---|---|---|---|
Nd, not determined. | |||||
1 | 4 | 5 | 8 | 215 ins C | Frameshift |
2 | 2 | 20 | 8 | 397 C>T | Arg133Cys |
3 | 3 | 36 | 8 | Idem | Idem |
4 | 5 | 5 | 8 | Idem | Idem |
5 | Nd | 10 | 8 | 403 A>G | Lys135Glu |
6 | 3 | 15 | 8 | 473 C>T | Thr158Met |
7 | 4 | 11 | 8 | Idem | Idem |
8 | Nd | 31 | 8 | Idem | Idem |
9 | 3 | 3 | 8 | 502 C>T | Arg168X |
10 | 4 | 8 | 8 | Idem | Idem |
11 | 3 | 14 | 8 | 763 C>T | Arg255X |
12 | Nd | 14 | 8 | 808 C>T | Arg270X |
13 | 4 | 4 | 8 | Idem | Idem |
14 | 3 | 22 | 8 | Idem | Idem |
15 | 3 | 7.5 | 8 | 880 C>T | Arg270X |
16 | Nd | 15 | 8 | 916 C>T | Arg306Cys |
17 | 6, 5 | 8 | 8 | Idem | Idem |
18 | 3 | 3 | 8 | Idem | Idem |
19 | 4 | 4 | 8 | 964 G>C | Pro322Ala |
20 | Nd | nd | 8 | 1056 del 163 | Frameshift |
21 | 2 | 27 | 8 | 1153 del 44 | Frameshift |
22 | Nd | 21 | 8 | 1162 Del 30 | Frameshift |
23 | 5 | 5 | 8 | 1160 del 21 | |
24 | Nd | 15 | 8 | 1194 Ins T | |
25 | 2 | 7 | 8 | Complex rearrangement | |
26 | Nd | 9 | 8 | No mutation | |
27 | 4 | 8.5 | 8 | No mutation | |
28 | 4 | 10 | 8 | No mutation |