Spliceogenic variants experimentally validated or inferred to
abrogate a BP site† |
Spliceogenic variants
experimentally validated or inferred to abrogate a BP
site† |
Spliceogenic variants experimentally
validated or inferred to abrogate a BP
site† |
BRCA1 |
LRG_292t1:c.135-18T>G |
Wappenschmidt et
al. (2012) |
BRCA1 |
LRG_292t1:c.135-27T>A |
Leman et al.
(2020) |
BRCA1 |
LRG_292t1:c.4358-31_4358-27del |
Leman et al.
(2020) |
BRCA1 |
LRG_292t1:c.4358-33T>G |
Leman et al.
(2020) |
BRCA1 |
LRG_292t1:c.5153-26A>G |
Leman et al.
(2020) |
BRCA1 |
LRG_292t1:c.5153-26A>T |
Leman et al.
(2020) |
BRCA1 |
LRG_292t1:c.5153-27_5153-23del |
Leman et al.
(2020) |
BRCA1 |
LRG_292t1:c.5407-25T>A |
Leman et al.
(2020) |
MLH1 |
LRG_216t1:c.1732-19T>A |
Leman et al.
(2020) |
RAD51C |
LRG_314t1:c.572-23_572-20del |
Leman et al.
(2020) |
RB1 |
LRG_517t1:c.2326-26A>C |
Houdayer et al.
(2008), K. Zhang et al. (2008) |
RB1 |
LRG_517t1:c.2326-26A>G |
Houdayer et al.
(2008) |
XPC |
LRG_472t1:c.413-9T>A |
Khan et al. (2004),
Khan et al. (2010) |
XPC |
LRG_472t1:c.413-24A>G |
Khan et al. (2004),
Khan et al. (2010) |
Deep intronic variants that activate a
pseudoexon‡ |
Deep intronic variants that
activate a pseudoexon‡ |
Deep intronic
variants that activate a pseudoexon‡ |
APC |
LRG_130t1:c.532-941G>A |
Spier et al.
(2012) |
APC |
LRG_130t1:c.1408+731C>T |
Spier et al.
(2012) |
APC |
LRG_130t1:c.1408+735A>T |
Spier et al.
(2012) |
ATM |
U82828.1(ATM_v001):c.1236-405C>T§
|
Cavalieri, Pozzi, Gatti, and Brusco (2013) |
ATM |
LRG_135t1:c.2839-581_2839-578del¶
|
Pagani et al. (2002) |
ATM |
U82828.1(ATM_v001):c.3994-159A>G††
|
Coutinho et al. (2005) |
ATM |
LRG_135t1:c.5763-1050A>G‡‡
|
McConville et al. (1996); Sutton et al. (2004) |
BRCA1 |
LRG_292t1:c.4185+4105C>T |
Montalban et al.
(2019) |
BRCA2 |
LRG_293t1:c.6937+594T>G |
Anczukow et al.
(2012) |
MSH2 |
LRG_218t1:c.212-478T>G |
Clendenning et al.
(2011) |
NF1 |
LRG_214t1:c.288+1137C>T |
Svaasand,
Engebretsen, Ludvigsen, Brechan, and Sjursen (2015) |
NF2 |
LRG_511t1:c.1447-233T>A§§
|
Castellanos et al. (2013) |
RB1 |
LRG_517t1:c.2490-1398A>G¶¶
|
Dehainault et al. (2007) |