Exon nr | AA position | AA Repeat | Nature – frequency | In tumors* | Allele loss | In normals | In BC patients** |
---|---|---|---|---|---|---|---|
2 | 487 | Glu | 15 bp del – 1 | 4/116 (3.4%) | 1 wt | 1/172 (0.6%) | 7/541 (1.3%) |
 |  |  | 12 bp ins – 11 |  | 2 variants 1 no loss |  |  |
9 | 1741 | Gln | 3 bp del – 1 | 2/110 (1.8%) | 2 wt | 5/162 (3.1%) | 11/539 (2.0%) |
 |  |  | 6 bp del – 4 |  |  |  |  |
 |  |  | 3 bp ins – 4 |  |  |  |  |
 |  |  | 6 bp ins – 10 |  |  |  |  |
10 | 3202 | Gln | 21 bp del – 8 | 1/98 (1%) | 1 variant | 1/146 (0.7%) | 6/530 (1.1%) |
10 | 3380 | Gln | 3 bp del – 5 | 6/115 (5.2%) | 2 wt | 11/148 (7.4%) | 27/351 (7.7%) |
 |  |  | 6 bp del – 15 |  | 4 Variants |  |  |
 |  |  | 3 bp ins – 24 |  |  |  |  |