Mutation | Exon | A. A change | Cohort 1 Dox Fumi n(%) | Cohort 2 Epi n(%) | Cohort 3 Pac n(%) | Germ line | Previous obs.1 |
---|---|---|---|---|---|---|---|
C146G | 4 | Ser 49 Cys | 3 (4.3) | 0 (0.0) | 1 (2.6) | ND | Yes2,3,4 |
C735T | 8 | - | 2 (2.9) | 4 (9.8) | 1 (2.6) | Yes | Yes2,3,4 |
A737C | 8 | Asn 246 Thr | 0 (0.0) | 1 (2.4) | 0 (0.0) | ND | No5 |
C1009T | 9 | Arg 337 Cys | 1 (1.4) | 0 (0.0) | 0 (0.0) | No | No5 |
A1792G | 12 | Ile 598 Val | 1 (1.4) | 0 (0.0) | 0 (0.0) | Yes | No5 |
T2572C | 18 | Phe 858 Leu | 2 (2.9) | 4 (9.8) | 0 (0.0) | Yes | Yes2,3,4 |
C3161G | 23 | Pro 1054 Arg | 5 (7.1) | 5 (12.2) | 1 (2.6) | Yes | Yes2,3,4 |
A3341G | 24 | Lys 1114 Arg | 0 (0.0) | 0 (0.0) | 1 (2.6) | Yes | No5 |
C4258T | 30 | Leu 1420 Phe | 3 (4.3) | 2 (4.9) | 0 (0.0) | Yes | Yes2,3,4 |
T4324C | 30 | Tyr 1442 His | 1 (1.4) | 0 (0.0) | 0 (0.0) | Yes | No5 |
C4578T | 31 | - | 8 (11.4) | 5 (12.2) | 9 (23.7) | Yes | Yes2,3,4 |
A5071C | 35 | Ser 1691 Arg | 1 (1.4) | 0 (0.0) | 0 (0.0) | ND | Yes2,3,4 |
G5557A | 38 | Asp 1853 Asn | 13 (18.6) | 9 (22.0) | 11 (28.9) | Yes | Yes2,3,4 |
T5793C | 40 | - | 1 (1.4) | 1 (2.4) | 0 (0.0) | ND | Yes2,3,4 |
C6217G | 44 | Leu 2073 Val | 0 (0.0) | 1 (2.4) | 0 (0.0) | ND | No5 |
T7390C | 51 | Cys 2464 Arg | 0 (0.0) | 0 (0.0) | 1 (2.6) | Yes | Yes2,3,4 |
del A 8432 | 59 | Frameshift | 0 (0.0) | 0 (0.0) | 1 (2.6) | ND | No5 |