Table 1 Mutational load in different tissues
From: Low-level constitutional mosaicism of a de novoBRCA1 gene mutation
Tissue | Reads indicating insertion | Total depth at this position | % Reads carrying the insertion | % Heterozygous cells |
|---|---|---|---|---|
Blood (draw 1, extraction 1) | 164 | 3307 | 5.0 | 9.9 |
Blood (draw 1, extraction 2) | 143 | 2889 | 4.9 | 9.9 |
Blood (draw 2) | 127 | 2460 | 5.2 | 10.3 |
Buccal swab | 149 | 2207 | 6.8 | 13.5 |
Normal breast tissue | – | – | 5.0 | 10.0 |
Breast tumour | – | – | 47.0 | Uncertain |
