ATM |
ataxia telangiectasia mutated isoform 1 |
Missense |
p.I2899M |
|
|
Missense |
p.S974F (a)
|
|
ATR |
ataxia telangiectasia and Rad3 related protein |
Nonsense |
p.W1784* (b)
|
|
|
Missense |
p.S1701F (b)
|
|
|
Missense |
p.E1840Q (c)
|
|
|
Missense |
p.A248S (c)
|
|
BRCA1 |
breast cancer 1, early onset isoform 2 |
Missense |
p.E554G |
|
|
Missense |
p.R1670K (d)
|
|
|
Missense |
p.V627I (d)
|
|
BRCA2 |
breast cancer 2, early onset |
Nonsense |
p.Y2884* |
|
|
Missense |
p.A1411T |
|
|
Missense |
p.E97V (e)
|
|
|
Splice_Site |
(f) |
|
|
Missense |
p.K1530E |
|
BLM |
Bloom syndrome protein |
Missense |
p.D294N (g)
|
|
ERCC5 |
XPG-complementing protein |
Missense |
p.Q1002R (a)
|
|
ERCC6 |
excision repair cross-complementing rodent |
Missense |
p.R928T (h)
|
|
ERCC8 |
excision repair cross-complementing rodent |
Missense |
p.D371H (f)
|
|
FANCC |
Fanconi anemia, complementation group C |
Missense |
p.T319R (b)
|
|
FANCI |
Fanconi anemia, complementation group I isoform |
Missense |
p.C558F |
|
FANCM |
Fanconi anemia, complementation group M |
Missense |
p.I633M (i)
|
|
|
Missense |
p.V1951E (a)
|
|
|
Missense |
p.H2016D (j)
|
|
|
Missense |
p.S981L (k)
|
|
|
Nonsense |
p.Q1701* |
|
RAD50 |
RAD50 homolog isoform 1 |
Missense |
p.E1106Q (e)
|
|
RAD51AP1 |
RAD51 associated protein 1 isoform a |
Missense |
p.S263C |
|
RAD51AP2 |
RAD51 associated protein 2 |
Nonsense |
p.Q5* (d)
|
|
|
Missense |
p.S355R |
|
RAD51C |
RAD51 homolog C isoform 1 |
Missense |
p.M118I (i)
|
|
|
Missense |
p.Q340K (m)
|
|
RAD51L1 |
RAD51-like 1 isoform 2 |
Missense |
p.E167K (g)
|
|
RAD52 |
RAD52 homolog |
Missense |
p.G59R (n)
|
|
RAD54B |
RAD54 homolog B |
Missense |
p.L428V (i)
|
|
RAD9B |
RAD9 homolog B |
Frame_Shift |
p.V412fs (h)
|
|
RADIL |
Rap GTPase interactor |
Missense |
p.P249R (o)
|
|
REV1 |
REV1-like isoform 1 |
Missense |
p.R874W (p)
|
RMI1 |
RMI1, RecQ mediated genome instability 1, |
Missense |
p.E617D (m)
|
|
UBE2E2 |
ubiquitin-conjugating enzyme E2E 2 |
Missense |
p.S46F (h)
|
|
|
Missense |
p.D22H (g)
|
|
UBE2I |
ubiquitin-conjugating enzyme E2I |
Missense |
p.W103C (i)
|
|
UBE2J2 |
ubiquitin conjugating enzyme E2, J2 isoform 1 |
Missense |
p.I113F (j)
|
|
UBE2NL |
ubiquitin-conjugating enzyme E2N-like |
Nonsense |
p.K95* (r)
|
|
UBE2Q1 |
ubiquitin-conjugating enzyme E2Q |
Missense |
p.M206I (k)
|
|
UBE3A |
ubiquitin protein ligase E3A isoform 2 |
Missense |
p.K489E (a)
|
|
|
Missense |
p.S166R |
|
UBE4A |
ubiquitination factor E4A |
Missense |
p.E616K |
|
|
Missense |
p.E822D (i)
|
|
|
Missense |
p.E827K (i)
|
|
|
Missense |
p.L605V |
|
UBE4B |
ubiquitination factor E4B isoform 1 |
Nonsense |
p.E114* (o)
|
|
USP12 |
ubiquitin thiolesterase 12 |
Missense |
p.A341E (j)
|
|
USP13 |
ubiquitin thiolesterase 13 |
Missense |
p.A561T (s)
|
|
|
Missense |
p.P729L (d)
|
|
USP19 |
ubiquitin thioesterase 19 |
Nonsense |
p.Y941* |
|
USP40 |
ubiquitin thioesterase 40 |
Nonsense |
p.G641* (o)
|
|
USP44 |
ubiquitin thiolesterase 44 |
Missense |
p.E226Q (n)
|
|
|
Missense |
p.E167Q (n)
|
|
|
Missense |
p.S64T (n)
|
|
USP7 |
ubiquitin specific peptidase 7 |
Missense |
p.M1070V |
|
USP8 |
ubiquitin specific peptidase 8 |
Missense |
p.D359H (f)
|
|
|
Missense |
p.V736I |
|
USP29 |
ubiquitin specific peptidase 29 |
Missense |
p.T584N (r)
|
|
USP36 |
ubiquitin specific peptidase 36 |
Missense |
p.I191M (k)
|
|
USP45 |
ubiquitin specific peptidase 45 |
Missense |
p.K180R (t)
|
|
USP17L2 |
deubiquitinating enzyme 3 |
Missense |
p.Q430E (k)
|
|
USP4 |
ubiquitin specific protease 4 isoform a |
Missense |
p.R179P (f)
|
|
|
Missense |
p.R40Q (f)
|
|
USP24 |
ubiquitin specific protease 24 |
Missense |
p.Y343H (c)
|
|
USP26 |
ubiquitin-specific protease 26 |
Missense |
p.K734N |
|
|
Missense |
p.V906L (p)
|
|
USP28 |
ubiquitin specific protease 28 |
Missense |
p.E371Q (k)
|
|
USP35 |
ubiquitin specific protease 35 |
Missense |
p.E55K (k)
|
|
USP43 |
ubiquitin specific protease 43 |
Missense |
p.S455F |
|
|
Missense |
p.R206Q (k)
|
|
|
Missense |
p.E834V (t)
|
|
USP47 |
ubiquitin specific protease 47 |
Missense |
p.I1263V |
|
USP51 |
ubiquitin specific protease 51 |
Missense |
p.F624L (j)
|
|
USP9X |
ubiquitin specific protease 9, X-linked isoform |
Missense |
p.P1105L (s)
|
|
|
Missense |
p.W512L (p)
|
|
USP9Y |
ubiquitin specific protease 9, Y-linked |
Missense |
p.I226F |
|
WDR48 |
WD repeat domain 48 |
Splice_Site |
(i) |