Gene |
Exon/Intron |
Systematic Nomenclature |
Amino Acid modification |
References |
BRCA1 |
exon 2 |
c.68_69delAG |
Stop39 |
Laarabi et al. [5] |
|
exon 5 |
c.181T>G |
C61G |
Tazzite et al. [5] |
|
exon 11 |
c.798_799delTT |
Stop285 |
Tazzite et al. [4] |
|
exon 11 |
c.2805delA |
Stop999 |
Laraqui et al. [6] |
|
exon 11 |
c.3279delC |
Stop1108 |
Tazzite et al. [4] |
|
exon 11 |
c.1016dupA |
Stop345 |
Laraqui et al. [6] |
|
exon 16 |
c.4942A>T |
Stop1648 |
Laraqui et al. [6] |
|
exon 11b |
c.1186A>G |
Q356R |
Tazzite et al. [7] |
|
exon 11b |
c. 1100A>G |
T327T |
Tazzite et al. [7] |
|
exon 17 |
c.5062-5064delGTT |
V1688del |
Tazzite et al. [4] |
|
exon 18 |
c.5095C>T |
R1699W |
Laraqui et al. [6] |
BRCA2 |
exon 11 |
c.3381delT |
Stop1150 |
Tazzite et al. [4] |
|
exon 11 |
c.5073dupA |
W1692MfsX3 |
Laarabi et al. [5] |
|
exon 14 |
c.7110delA |
Stop2376 |
Tazzite et al. [4] |
|
exon 14 |
c.7235insG |
Stop2413 |
Tazzite et al. [4] |
|
intron 6 |
c.517-1G>A |
|
Tazzite et al. [4] |
|